WorldWideScience

Sample records for clinical spectrum literature

  1. The effect of dietary supplements on clinical aspects of autism spectrum disorder: A systematic review of the literature.

    Science.gov (United States)

    Gogou, Maria; Kolios, George

    2017-09-01

    Autism spectrum disorder is associated with significant social and financial burden and no definite treatment for this entity has been identified, yet. In recent years there has been an increasing interest in the use of dietary interventions as a complementary therapeutic option for these patients. The aim of this systematic review is to provide high evidence level literature data about the effect of dietary supplements on clinical aspects of children with autism. A comprehensive literature search was conducted using Pubmed as the medical database source. Randomized controlled trials conducted in pediatric populations and including measures of clinical outcomes were considered. A total of 17 eligible prospective studies were selected. Types of dietary supplements evaluated in these studies included amino acids, fatty acids and vitamins/minerals. N-acetylcysteine was shown to exert a beneficial effect on symptoms of irritability. On the other hand, literature data about the efficacy of d-cycloserine and pyridoxine-magnesium supplements was controversial. No significant effect was identified for fatty acids, N,N-dimethylglycine and inositol. Literature data about ascorbic acid and methyl B12 was few, although some encouraging results were found. No serious adverse events were reported in the vast majority of the studies, while the prevalence of adverse reactions was similar between treatment and placebo groups. The use of dietary supplements in children with autism seems to be a safe practice with encouraging data about their clinical efficacy. More studies are needed to further investigate this issue. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  2. Clinical spectrum of onchodermatitis

    International Nuclear Information System (INIS)

    Bari, A.U.

    2007-01-01

    To describe the frequency and to see various dermatological presentations of onchocerciasis in black Africans of Sierra Leone. Local black patients of all age groups, attending dermatology outpatient department of Pak Field Hospital (established as a part of UN peacekeeping mission in Sierra Leone) with clinical diagnosis of onchodermatitis, based on symptomatology and morphological features of the disease, were included. UN troops were excluded. Laboratory investigations including blood complete picture and skin snips were carried out in all patients. Skin biopsy and nodule biopsy was performed in selected cases. Skin manifestations were recorded and categorized into various clinical patterns, i.e. acute, chronic, lichenified, onchocercoma, etc. Data was analyzed by using descriptive statistics in Instat. A total of 3011 patients, belonging to different local tribes, having a variety of skin disorders, were seen during the study period. One hundred and eighty-seven (6.2%) patients were found to have onchodermatitis. Patients were of all ages and both sexes, their ages ranging from 1 month to 73 years. Gender ratio was almost equal. A whole clinical spectrum of onchodermatitis was observed, chronic papular onchodermatitis being the most common pattern. Onchodermatitis with a large spectrum of clinical manifestations was seen in black Africans of the eastern part of Sierra Leone. (author)

  3. Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

    Science.gov (United States)

    Caglayan, Ahmet Okay; Baranoski, Jacob F.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Aslan; Guclu, Bulent; Kaymakcalan, Hande; Aktekin, Berrin; Akgumus, Gozde Tugce; Murray, Phillip B.; Omay, E. Zeynep Erson; Caglar, Caner; Bakircioglu, Mehmet; Sakalar, Yildirim Bayezit; Guzel, Ebru; Demir, Nihat; Tuncer, Oguz; Senturk, Senem; Ekici, Baris; Minja, Frank J.; Šestan, Nenad; Yasuno, Katsuhito; Bilguvar, Kaya; Caksen, Huseyin; Gunel, Murat

    2014-01-01

    BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. Upon further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology – allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of encephaloceles. PMID:25456301

  4. Clinical neurogenetics: autism spectrum disorders.

    Science.gov (United States)

    Mehta, Sunil Q; Golshani, Peyman

    2013-11-01

    Autism spectrum disorders are neurodevelopmental disorders characterized by deficits in social interactions, communication, and repetitive or restricted interests. There is strong evidence that de novo or inherited genetic alterations play a critical role in causing Autism Spectrum Disorders, but non-genetic causes, such as in utero infections, may also play a role. Magnetic resonance imaging based and autopsy studies indicate that early rapid increase in brain size during infancy could underlie the deficits in a large subset of subjects. Clinical studies show benefits for both behavioral and pharmacological treatment strategies. Genotype-specific treatments have the potential for improving outcome in the future. Published by Elsevier Inc.

  5. Carboplatin: the clinical spectrum to date.

    Science.gov (United States)

    Canetta, R; Rozencweig, M; Carter, S K

    1985-09-01

    The existing literature data base on carboplatin updated to June, 1985 has been reviewed. The compound seems to retain the same spectrum of activity as cisplatin, and a definite set of efficacy data is available for ovarian cancer of epithelial origin, small cell carcinoma of the lung and epidermoid carcinoma of the head and neck. A yet unpublished toxicity data base on carboplatin suggests that the compound has an improved therapeutic index over the parent compound, cisplatin, and that it does not seem inferior to another platinum coordination compound currently in clinical trials, iproplatin.

  6. Clinical Spectrum of Propionic Acidaemia

    Directory of Open Access Journals (Sweden)

    Muhammad Rafique

    2013-01-01

    Full Text Available Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA. Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. Results. Twenty-six patients with PA had 133 admissions. The majority (85% of the patients exhibited clinical manifestations in the 1st week of life. Regarding clinical features, lethargy, fever, poor feeding, vomiting, dehydration, muscular hypotonia, respiratory symptoms, encephalopathy, disturbance of tone and reflexes, and malnutrition were observed in 51–92% admissions. Metabolic crises, respiratory diseases, hyperammonaemia, metabolic acidosis, hypoalbuminaemia, and hypocalcaemia were observed in 30–96% admissions. Pancytopenia, ketonuria, hypoproteinemia, hypoglycaemia, and mildly disturbed liver enzymes were found in 12–41% admissions. Generalised brain oedema was detected in 17% and cerebral atrophy in 25% admissions. Gender-wise odd ratio analysis showed value of 1.9 for lethargy, 1.99 for respiratory diseases, 0.55 for anaemia, and 1.82 for hypocalcaemia. Conclusion. Propionic acidaemia usually presents with wide spectrum of clinical features and disturbances of laboratory parameters in early neonatal age. It is associated with significant complications which deteriorate the patients’ quality of life. Perhaps with early diagnosis of the disease and in time intervention, these may be preventable.

  7. Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with kiaa2022 pathogenic variants and review of the literature.

    Science.gov (United States)

    Lorenzo, Melissa; Stolte-Dijkstra, Irene; van Rheenen, Patrick; Smith, Ronald Garth; Scheers, Tom; Walia, Jagdeep S

    2018-04-25

    KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, café-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism. He has gastroesophageal reflux, constipation with delayed rectosigmoid colonic transit time, difficulty regulating temperature, several musculoskeletal issues, and a history of one grand mal seizure. Patient 2, 10-years-old, has mild dysmorphic features, therapy resistant vomiting with diminished motility of the stomach, mild constipation, cortical visual impairment with intermittent strabismus, axial hypotonia, difficulty regulating temperature, and cutaneous mastocytosis. Genetic testing identified KIAA2022 variant c.652C > T(p.Arg218*) in Patient 1, and a novel nonsense de novo variant c.2707G > T(p.Glu903*) in Patient 2. We also summarized features of all reported males with KIAA2022 variants to date. This report not only adds knowledge of a novel pathogenic variant to the KIAA2022 variant database, but also likely extends the spectrum by describing novel dysmorphic features and medical conditions including macroglossia, café-au-lait spots, keratoconus, severe cutaneous mastocytosis, and motility problems of the GI tract, which may help physicians involved in the care of patients with this syndrome. Lastly, we describe the power of social media in bringing families with rare medical conditions together. © 2018 Wiley Periodicals, Inc.

  8. Epidermoid Cysts – A Wide Spectrum of Clinical Presentation and Successful Treatment by Surgery: A Retrospective 10-Year Analysis and Literature Review

    Directory of Open Access Journals (Sweden)

    Uwe Wollina

    2018-01-01

    Full Text Available Epidermoid cysts are common benign lesions of hair-bearing, and less often glabrous skin. They can also occur in oral mucosa and internal organs. In case of cutaneous lesions, an epidermal punctum is a clinical diagnostic hallmark. The clinical presentation is variable leading to some differential diagnoses. Diagnosis of epidermoid cysts needs histopathological confirmation – not only of the potential of malignant transformation. The treatment of choice is surgery. We report a retrospective analysis of 2159 epidermoid cysts treated surgically. Most of the cases can be performed under local anaesthesia. The complication rate of 2.2% is low. To avoid relapses, the cyst wall has to be removed completely. Rare genetic disorders with multiple cysts are Gardner and Lowe syndrome.

  9. Clinical leadership and nursing explored: A literature search.

    Science.gov (United States)

    Stanley, David; Stanley, Karen

    2017-10-27

    To explore what we know of the concept of clinical leadership and what the term means. Clues to the definition of clinical leadership, the attributes of effective and less effective clinical leaders, models of clinical leadership and the barriers that hinder clinical leadership development were explored. While nursing leadership and healthcare leadership are terms that have been evident in nursing and health industry literature for many decades, clinical leadership is a relatively new term and is may still be misunderstood. A search was undertaken of formal and informal literature using a library database and a range of search engines for the words "clinical leadership" and "clinical leadership in nursing." In each case, the full search parameters were employed with searches between 1974-2016. Full-text articles were requested, and English was the preferred language. In total, 3,259 publications were located through seven database search tools, although these included a large number of duplications. Following further informal searches and removing irrelevant material, 27 research or literature review focused papers were retained that included 17 qualitative studies, one quantitative study, one mixed method study, one Delphi study and two that compared other research studies. As well, five literature reviews were retained in the synthesis. The data synthesis resulted five categories: definitions of clinical leadership, characteristics most likely or least associated with clinical leadership, models applied to clinical leadership and limits to clinical leadership development. Clinical leaders are recognised for having their values and beliefs parallel their actions and interventions. They are found across the spectrum of health organisations, often at the highest level for clinical interaction, but not commonly at the highest management level in a ward or unit team and they are seen in all clinical environments. Clinical Leadership and an understanding on how

  10. Autism Spectrum Disorder in Anorexia Nervosa: An Updated Literature Review.

    Science.gov (United States)

    Westwood, Heather; Tchanturia, Kate

    2017-07-01

    There is growing interest in the relationship between anorexia nervosa (AN) and autism spectrum disorder (ASD). This review aimed to synthesise the most recent research on this topic to identify gaps in current knowledge, directions for future research and reflect on implications for treatment. Eight studies assessing the presence of ASD in AN were identified in the literature along with three studies examining the impact of symptoms of ASD on treatment outcome. Research with young people and using parental-report measures suggest lower rates of co-morbidity than previous adult studies. The wide range of diagnostic tools, methodologies and populations studied make it difficult to determine the prevalence of ASD in AN. Despite this, studies consistently report over-representation of symptoms of ASD in AN. Co-morbid AN and ASD may require more intensive treatment or specifically tailored interventions. Future longitudinal research and female-specific diagnostic tools would help elucidate the relationship between these two disorders.

  11. Clinical spectrum of cryptogenic organising pneumonitis.

    Science.gov (United States)

    Bellomo, R; Finlay, M; McLaughlin, P; Tai, E

    1991-01-01

    Cryptogenic organising pneumonitis (bronchiolitis obliterans organising pneumonia) is an uncommon condition that often responds to steroids. It is characterised clinically by constitutional symptoms, pathologically by intra-alveolar organising fibrosis, and radiologically by patchy pulmonary infiltrates. Its full clinical spectrum and course are only partially described and understood. Six patients are described, seen over three years, with considerably diverse clinical and radiological presentations (two had diffuse lung infiltrates, two had peripheral lung infiltrates, and two had localised lobar involvement) and with very varying severity of disease (two with a life threatening illness, three with appreciable subacute constitutional symptoms, and one with mild symptoms). It is concluded that cryptogenic organising pneumonitis can present in various ways. A set of diagnostic criteria are proposed which will help in the recognition of this syndrome, which is probably underdiagnosed. Images PMID:1926023

  12. Vitamin D and Autism Spectrum Disorder: A Literature Review

    Directory of Open Access Journals (Sweden)

    Hajar Mazahery

    2016-04-01

    Full Text Available Low vitamin D status in early development has been hypothesised as an environmental risk factor for Autism Spectrum Disorder (ASD, given the concurrent increase in the prevalence of these two conditions, and the association of vitamin D with many ASD-associated medical conditions. Identification of vitamin D-ASD factors may provide indications for primary and secondary prevention interventions. We systematically reviewed the literature for studies on vitamin D-ASD relationship, including potential mechanistic pathways. We identified seven specific areas, including: latitude, season of conception/birth, maternal migration/ethnicity, vitamin D status of mothers and ASD patients, and vitamin D intervention to prevent and treat ASD. Due to differences in the methodological procedures and inconsistent results, drawing conclusions from the first three areas is difficult. Using a more direct measure of vitamin D status—that is, serum 25(OHD level during pregnancy or childhood—we found growing evidence for a relationship between vitamin D and ASD. These findings are supported by convincing evidence from experimental studies investigating the mechanistic pathways. However, with few primary and secondary prevention intervention trials, this relationship cannot be determined, unless randomised placebo-controlled trials of vitamin D as a preventive or disease-modifying measure in ASD patients are available.

  13. Vitamin D and Autism Spectrum Disorder: A Literature Review

    Science.gov (United States)

    Mazahery, Hajar; Camargo, Carlos A.; Conlon, Cathryn; Beck, Kathryn L.; Kruger, Marlena C.; von Hurst, Pamela R.

    2016-01-01

    Low vitamin D status in early development has been hypothesised as an environmental risk factor for Autism Spectrum Disorder (ASD), given the concurrent increase in the prevalence of these two conditions, and the association of vitamin D with many ASD-associated medical conditions. Identification of vitamin D-ASD factors may provide indications for primary and secondary prevention interventions. We systematically reviewed the literature for studies on vitamin D-ASD relationship, including potential mechanistic pathways. We identified seven specific areas, including: latitude, season of conception/birth, maternal migration/ethnicity, vitamin D status of mothers and ASD patients, and vitamin D intervention to prevent and treat ASD. Due to differences in the methodological procedures and inconsistent results, drawing conclusions from the first three areas is difficult. Using a more direct measure of vitamin D status—that is, serum 25(OH)D level during pregnancy or childhood—we found growing evidence for a relationship between vitamin D and ASD. These findings are supported by convincing evidence from experimental studies investigating the mechanistic pathways. However, with few primary and secondary prevention intervention trials, this relationship cannot be determined, unless randomised placebo-controlled trials of vitamin D as a preventive or disease-modifying measure in ASD patients are available. PMID:27110819

  14. Clinical spectrum of anorexia nervosa in children.

    Science.gov (United States)

    Atkins, D M; Silber, T J

    1993-08-01

    A retrospective review of 21 patients ages 12 years and younger (age of onset range 7 to 12 years) with anorexia nervosa showed diagnostic delay in the youngest ones, high incidence of family psychiatric history, a remarkable severity of illness, and positive response to intensive treatment. Additional findings included significant comorbidity, a distinct subgroup with personality disorder and another with features of the "vulnerable child syndrome." This broad clinical spectrum of anorexia nervosa in children may explain the great variability in outcome. The development of anorexia nervosa in children relates to a complex combination of etiological and trigger factors. Precipitants identified in this study were physical maturation, entry into junior high, loss, or some combination thereof.

  15. Acupuncture for Children with Autism Spectrum Disorders: A Systematic Review of Randomized Clinical Trials

    Science.gov (United States)

    Lee, Myeong Soo; Choi, Tae-Young; Shin, Byung-Cheul; Ernst, Edzard

    2012-01-01

    This study aimed to assess the effectiveness of acupuncture as a treatment for autism spectrum disorders (ASD). We searched the literature using 15 databases. Eleven randomized clinical trials (RCTs) met our inclusion criteria. Most had significant methodological weaknesses. The studies' statistical and clinical heterogeneity prevented us from…

  16. Expanding the mutation and clinical spectrum of Roberts syndrome.

    Science.gov (United States)

    Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

    2016-07-01

    Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. © 2015 Japanese Teratology Society.

  17. Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Paolo Prontera

    2017-09-01

    Full Text Available Moyamoya angiopathy (MA is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735. Our patient also has a deleted FOXD3 of the FOX gene family of transcription factors, which plays an important role in neural crest cell growth and differentiation. As the murine FOXD3−/− model shows craniofacial anomalies and abnormal common carotid artery morphology, it can be hypothesised that FOXD3 is involved in the pathogenesis of the craniofacial and vascular defects observed in our patient. In support of our assumption, we found in the literature another patient with a syndromic form of MA who had a deletion involving another FOX gene (FOXC1. In addition to describing the clinical history of our patient, we have reviewed all of the available literature concerning other patients with a 1p32p31 deletion, including cases from the Decipher database, and we have also reviewed the genetic disorders associated with MA, which is a useful guide for the diagnosis of syndromic form of MA.

  18. IncobotulinumtoxinA in clinical literature.

    Science.gov (United States)

    Lorenc, Z Paul; Kenkel, Jeffrey M; Fagien, Steven; Hirmand, Haideh; Nestor, Mark S; Sclafani, Anthony P; Sykes, Jonathan M; Waldorf, Heidi A

    2013-03-01

    IncobotulinumtoxinA is the third neurotoxin type A to be approved for aesthetic use in the United States. Because incobotulinumtoxinA has been in use in Europe for some time, the clinical literature is fairly replete with references to its properties and characteristics, as well as its safety and efficacy. In North America, 2 pivotal trials, referred to as GL-1 and GL-2, investigated the safety and efficacy of incobotulinumtoxinA in the glabellar region; both are currently in press with another journal. Other published studies of incobotulinumtoxinA are also described in depth in this article, including reports on aesthetic indications, diffusion, therapeutic indications, and studies pertaining to the preclinical and clinical pharmacology of incobotulinumtoxinA. Topics addressed include potency variability, mean concentration, stability and dissociation, and endopeptide immunoassay.

  19. Gender Dysphoria and Autism Spectrum Disorder: A Systematic Review of the Literature.

    Science.gov (United States)

    Glidden, Derek; Bouman, Walter Pierre; Jones, Bethany A; Arcelus, Jon

    2016-01-01

    There is a growing clinical recognition that a significant proportion of patients with gender dysphoria have concurrent autism spectrum disorder (ASD). The purpose of this review is to systematically appraise the current literature regarding the co-occurrence of gender dysphoria and ASD. A systematic literature search using Medline and PubMed, PsycINFO, and Embase was conducted from 1966 to July 2015. Fifty-eight articles were generated from the search. Nineteen of these publications met the inclusion criteria. The literature investigating ASD in children and adolescents with gender dysphoria showed a higher prevalence rate of ASD compared with the general population. There is a limited amount of research in adults. Only one study showed that adults attending services for gender dysphoria had increased ASD scores. Another study showed a larger proportion of adults with atypical gender identity and ASD. Although the research is limited, especially for adults, there is an increasing amount of evidence that suggests a co-occurrence between gender dysphoria and ASD. Further research is vital for educational and clinical purposes. Copyright © 2016 International Society for Sexual Medicine. Published by Elsevier Inc. All rights reserved.

  20. Clinical Genetic Aspects of ASD Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    G. Bradley Schaefer

    2016-01-01

    Full Text Available Early presumptions opined that autism spectrum disorder (ASD was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%–40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%. To date these investigations have focused on etiologic factors that are largely mono-factorial. The currently undiagnosed causes of ASDs will likely be found to have causes that are more complex. Epigenetic, multiple interacting loci, and four dimensional causes (with timing as a variable are likely to be associated with the currently unidentifiable cases. Today, the “Why” is more important than ever. Understanding the causes of ASDs help inform families of important issues such as recurrence risk, prognosis, natural history, and predicting associated co-morbid medical conditions. In the current era of emerging efforts in “personalized medicine”, identifying an etiology will be critical in identifying endo-phenotypic groups and individual variations that will allow for tailored treatment for persons with ASD.

  1. THE CLINICAL SPECTRUM OF AMOEBIC COLITIS*

    African Journals Online (AJOL)

    1971-02-27

    Feb 27, 1971 ... The clinical presentation of acute amoebic colitis and its ... Case 1. A 35-year-old Coloured male presented to the. Medical Outpatient Department with a 2-week ..... necessitate emergency colectomy. ... tion and peritonitis.

  2. Clinical spectrum of silver - Russell syndrome

    Directory of Open Access Journals (Sweden)

    Sapna N.K. Varma

    2013-01-01

    Full Text Available Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.

  3. Scrub typhus: Clinical spectrum and outcome.

    Science.gov (United States)

    Venkategowda, Pradeep M; Rao, S Manimala; Mutkule, Dnyaneshwar P; Rao, Mallela V; Taggu, Alai N

    2015-04-01

    Scrub typhus is one of the differential diagnoses for fever with thrombocytopenia. ARDS associated with Scrub typhus has high morbidity and mortality. To evaluate clinical features, lab values, and outcome in patients with scrub typhus and comparison in patients with or without ARDS. A prospective observational study was conducted on 109 patients with febrile illness and thrombocytopenia during a period of 12 months. All 109 patients were tested with both Immune-chromatography test and Weil felix test. Patients having either Immune-chromatography test/Weil felix test positive have been included and considered as scrub typhus positive whereas negative for both Immune-chromatography and Weil felix test were excluded. Clinical features, lab parameters, and outcome were evaluated in all patients with scrub typhus. Statistical analysis used in this study was T-test. Among 58 patients who were included (After exclusion of 51 patients among total of 109 patients) 34 patients had no ARDS and 24 patients had ARDS. The clinical feature like dyspnoea, cough, low blood pressure (MAPscrub typhus patients group with ARDS. The higher titers of Weil-felix can be correlated with more severe form of disease according to our observation. All 34 Scrub typhus patients without ARDS recovered completely. Among 24 Scrub typhus patients with ARDS, 22 patients recovered, and 2 patients died. Scrub typhus is an important differential diagnosis in a patients having fever with thrombocytopenia. Scrub typhus associated with ARDS has high morbidity and mortality. Early diagnosis and treatment with doxycycline can prevent the occurrence of ARDS.

  4. The clinical spectrum of Lyme neuroborreliosis.

    LENUS (Irish Health Repository)

    Elamin, M

    2010-02-01

    Lyme disease is a multisystem infectious disease, endemic in parts of Europe, including the West of Ireland. Neurological manifestions (neuroborreliosis) are variable. Presenting neurological syndromes include meningitis, cranial neuropathies, myeloradiculitis and mononeuritis multiplex. A lack of specificity in serological diagnosis may add to diagnostic confusion. We reviewed thirty cases of acute Lyme disease in the West of Ireland and found neurological syndromes in 15 (50%), with painful radiculopathy (12 patients; 80%) and cranial neuropathy (7 patients; 46%) occurring frequently. Neuroborreliosis needs to be considered in the differential diagnosis of these neurological syndromes in the appropriate clinical context.

  5. Acute porphyrias: clinical spectrum of hodpitalized patients

    International Nuclear Information System (INIS)

    Sheerani, M.; Urfy, M.Z.; Shahid, B.; Hassan, A.

    2007-01-01

    To determine characteristics, clinical features and triggers of acute porphyria in hospitalized patients presenting to a tertiary care center in Pakistan. Case records of 26 patients hospitalized with diagnosis were identified through computerized hospital patients data. The diagnosis of acute porphyria was based on pertinent clinical features and laboratory investigations after exclusion of other alternative diagnosis and patients previously diagnosed as porphyric. The data was analyzed through SPSS software version 11.0. Twelve patients (46.2%) were males. Mean age was 21 years. Most common manifestation were gastrointestinal (n=22; 88.5%) followed by neurological symptoms (n=14; 54%). Neurological manifestations included seizures (n=9; 34.6%) and neuropathy (n=6; 23%). One patient presented with depression and insomnia. Family history was positive in (n=8; 30.8%). Eighteen (69%) had history of previous attacks at their presentation to the hospital. Most common precipitating factor was eating outside (n=18; 69%). Porphyrias are uncommon and cryptic group of diseases. This study shows a slightly different gender distribution, earlier onset of symptoms, higher number of neuropsychiatric symptoms (especially seizures), more distal neuropathies and different precipitant in the studied subset of patients than described previously in the western studies. (author)

  6. Propofol Frenzy: Clinical Spectrum in 3 Patients.

    Science.gov (United States)

    Carvalho, Diego Z; Townley, Ryan A; Burkle, Christopher M; Rabinstein, Alejandro A; Wijdicks, Eelco F M

    2017-11-01

    Postsedation neuroexcitation is sometimes attributed to intravenous injection of the sedative-hypnotic drug propofol. The movements associated with these events have strongly suggested convulsive activity, but they rarely have been comprehensively evaluated. We present video recordings of 3 healthy young patients who underwent elective surgery under conscious sedation and emerged from sedation with transient but repetitive violent motor activity and impaired consciousness. These manifestations required considerable mobilization of multiple health care workers to protect the patient from inflicting harm. All patients received propofol, and all fully recovered without adverse sequelae. We postulate that these movements are propofol related. Importantly, we found no evidence of seizures clinically or electrographically. Copyright © 2017 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  7. Clinical Spectrum of Disorders of Sexual Differentiation

    International Nuclear Information System (INIS)

    Rehman, U. L.; Ahsan, T.; Jabeen, R.; Zehra, F.

    2016-01-01

    Objective: To describe the mode of presentation and causes of the disorders of sexual differentiation in patients presenting in the Endocrine Clinic. Study Design: Observational study. Place and Duration of Study: The Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from July 2012 to July 2014. Methodology: Patients with phenotypic, psychosocial gender confusion or absence of gender appropriate secondary sexual maturation were enrolled in the study. Patients having chronic systemic disease, as cause of delayed puberty, were excluded from the study. SPSS 13 was used to evaluate the data. Results: A total of 48 patients registered in the study with mean age of 19.9 ± 8 years. Female gender was assigned to 28 (58.3 percentage) of which 8 (28.57 percentage) had genital ambiguity. Male gender was assigned to 20 (41.66 percentage) patients at the time of birth and 7 (35 percentage) of them had ambiguous genitalia. Karyotyping could be done in 36 (75 percentage) patients of which 17 (47.2 percentage) were females and 19 (52.7 percentage) were males. Karyotypic gender of the 19 (48.57 percentage) male patients was 46 XX, 46 XY and 47 XXY; in 4 (21.05 percentage), 5 (26.3 percentage) and 10 (52.6 percentage) patients, respectively with 9 Klinfelter syndrome. Karyotypic gender of 17 (47.42 percentage) female patients were 46 XX, 46 XY and 45 X0; in 5 (29.4 percentage), 3 (17.64 percentage) and 9 (52.9 percentage) patients, respectively. Conclusion: Disorder of sexual development constitutes a small but difficult area of endocrinology with disastrous consequences, especially if assigned wrong sex at birth. Mode of presentation of these cases was diverse ranging from delayed puberty, to gender confusion, to pregnancy in a male. Eventually in an adult patient assignment or reassignment of gender identity was primarily the patient's prerogative. (author)

  8. Clinical Spectrum of Disorders of Sexual Differentiation.

    Science.gov (United States)

    Rehman, Urooj Lal; Ahsan, Tasnim; Jabeen, Rukhshanda; Zehra, Fatima

    2016-03-01

    To describe the mode of presentation and causes of the disorders of sexual differentiation in patients presenting in the Endocrine Clinic. Observational study. The Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from July 2012 to July 2014. Patients with phenotypic, psychosocial gender confusion or absence of gender appropriate secondary sexual maturation were enrolled in the study. Patients having chronic systemic disease, as cause of delayed puberty, were excluded from the study. SPSS 13 was used to evaluate the data. A total of 48 patients registered in the study with mean age of 19.9 ±8 years. Female gender was assigned to 28 (58.3%) of which 8 (28.57%) had genital ambiguity. Male gender was assigned to 20 (41.66%) patients at the time of birth and 7 (35%) of them had ambiguous genitalia. Karyotyping could be done in 36 (75%) patients of which 17 (47.2%) were females and 19 (52.7%) were males. Karyotypic gender of the 19 (48.57%) male patients was 46 XX, 46 XY and 47 XXY; in 4 (21.05%), 5 (26.3%) and 10 (52.6%) patients, respectively with 9 Klinfelter syndrome. Karyotypic gender of 17 (47.42%) female patients were 46 XX, 46 XY and 45 X0; in 5 (29.4%), 3 (17.64%) and 9 (52.9%) patients, respectively. Disorder of sexual development constitutes a small but difficult area of endocrinology with disastrous consequences, especially if assigned wrong sex at birth. Mode of presentation of these cases was diverse ranging from delayed puberty, to gender confusion, to pregnancy in a male. Eventually in an adult patient assignment or reassignment of gender identity was primarily the patient's prerogative.

  9. The co-occurrence of intellectual giftedness and Autism Spectrum Disorders : A literature review

    NARCIS (Netherlands)

    Burger-Veltmeijer, Agnes E.J.; Minnaert, Alexander E.M.G.; Van Houten-van den Bosch, Els J.

    2011-01-01

    This systematic literature review explored the state of the art concerning the theoretical and empirical knowledge of the twice-exceptionality of Intellectual Giftedness and Autism Spectrum Disorders (IG + ASD)(3), in relation to diagnostic and assessment issues. After searching and examining

  10. Oleander toxicity – the clinical spectrum and mortality predictors: an ...

    African Journals Online (AJOL)

    Oleander toxicity – the clinical spectrum and mortality predictors: an observational study. ... This is a prospective, observational study conducted at Villupuram Medical College. Consecutive hospitalized patients who had consumed ... The data were analyzed using standard statistical methods. A total of 101 patients (46 male ...

  11. Expanded clinical spectrum of enhanced S-cone syndrome

    NARCIS (Netherlands)

    Yzer, Suzanne; Barbazetto, Irene; Allikmets, Rando; van Schooneveld, Mary J.; Bergen, Arthur; Tsang, Stephen H.; Jacobson, Samuel G.; Yannuzzi, Lawrence A.

    2013-01-01

    New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy. To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene. Retrospective, noncomparative case series of 31 patients examined

  12. Nanophthalmos: A Review of the Clinical Spectrum and Genetics

    Directory of Open Access Journals (Sweden)

    Pedro C. Carricondo

    2018-01-01

    Full Text Available Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1 and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

  13. Disease spectrum and treatment patterns in a local male infertility clinic.

    Science.gov (United States)

    Ho, K L; Tsu, James H L; Tam, P C; Yiu, M K

    2015-02-01

    To review disease spectrum and treatment patterns in a local male infertility clinic. Case series. Male infertility clinic in a teaching hospital in Hong Kong. Patients who were seen as new cases in a local male infertility clinic between January 2008 and December 2012. Infertility assessment and counselling on treatment options. Disease spectrum and treatment patterns. A total of 387 new patients were assessed in the male infertility clinic. The mean age of the patients and their female partners was 37.2 and 32.1 years, respectively. The median duration of infertility was 3 years. Among the patients, 36.2% had azoospermia, 8.0% had congenital absence of vas deferens, and 48.3% of patients had other abnormalities in semen parameters. The commonest causes of male infertility were unknown (idiopathic), clinically significant varicoceles, congenital absence of vas deferens, mumps after puberty, and erectile or ejaculatory dysfunction. Overall, 66.1% of patients chose assisted reproductive treatment and 12.4% of patients preferred surgical correction of reversible male infertility conditions. Altogether 36.7% of patients required either surgical sperm retrieval or correction of male infertility conditions. The present study provided important local data on the disease spectrum and treatment patterns in a male infertility clinic. The incidences of azoospermia and congenital absence of vas deferens were much higher than those reported in the contemporary literature. A significant proportion of patients required either surgical sperm retrieval or correction of reversible male infertility conditions.

  14. THE EFFECTIVENESS OF MUSIC THERAPY IN AUTISM SPECTRUM DISORDER: A LITERATURE REVIEW

    Directory of Open Access Journals (Sweden)

    Marta Calleja-Bautista

    2016-05-01

    Full Text Available This work includes a review of the literature on music therapy interventions with people with Autism Spectrum Disorder (ASD in order to analyse the degree of effectiveness of these interventions. To conduct this review, a literature search of the relevant databases was performed and, with the inclusion criteria defined, a total of 18 studies were analysed. In 11 of the 18 interventions, statistically significant improvements were obtained, while in the remaining 7 interventions, the improvement did not reach statistical significance, or there was a limitation to the intervention effectiveness in follow-up evaluations. Considering these results, we conclude that music therapy may become a promising practice for improving the communication and social interaction of people with ASD. However, a greater volume of research is still needed to clarify the type of interventions and the areas of the autism spectrum disorder in which these interventions are actually effective.

  15. Clinical education and student satisfaction: An integrative literature review

    Directory of Open Access Journals (Sweden)

    Karen F. Phillips, EdD, MSN, IBCLC, ICCE

    2017-04-01

    Full Text Available The clinical component of undergraduate clinical education is a critical area in nursing programs. Faculty shortages have made recruitment of clinical faculty and clinical teaching more challenging. As such, alternate models of clinical faculty assignments are being explored to address faculty shortages. This article contains an extensive literature review conducted to survey models of clinical education and student satisfaction with the clinical environment. The purpose of this paper is to examine student satisfaction in the clinical learning environment using articles employing the Clinical Learning Environment Inventory (CLEI along with examining the use of alternate clinical staffing models in differing levels of undergraduate nursing students. A literature search focusing on studies published between 2002 and 2015 was conducted from 5 electronic databases. Thirty-five articles were reviewed and 22 were selected for this literature review. The studies reviewed concluded that students favored a more positive and favorable clinical environment than they perceived as being actually present. A supportive clinical learning environment is of paramount importance in securing positive teaching learning outcomes. Nurse educators can apply the results of this review in order to develop and maintain quality clinical teaching and to promote a positive, student-centric, clinical learning environment.

  16. Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

    Directory of Open Access Journals (Sweden)

    Hiren Patt

    2017-11-01

    Full Text Available Objective: To study genotype–phenotype spectrum of triple A syndrome (TAS. Methods: Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8 and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 publications. Results: Median age at presentation was 4.75 years (range: 4–10 and 5 years (range: 1–42 for cohorts 1 and 2, respectively. Alacrima, adrenal insufficiency (AI, achalasia and neurological dysfunction (ND were seen in 8/8, 8/8, 7/8 and 4/8 patients in cohort 1, and in 99, 91, 93 and 79% patients in cohort 2, respectively. In both cohorts, alacrima was present since birth while AI and achalasia manifested before ND. Mineralocorticoid deficiency (MC was uncommon (absent in cohort 1, 12.5% in cohort 2. In cohort 1, splice-site mutation in exon 1 (p.G14Vfs*45 was commonest, followed by a deletion in exon 8 (p.S255Vfs*36. Out of 65 mutations in cohort 2, 14 were recurrent and five exhibited regional clustering. AI was more prevalent, more often a presenting feature, and was diagnosed at younger age in T group (those with truncating mutations as compared to NT (non-truncating mutations group. ND was more prevalent, more common a presenting feature, with later age at onset in NT as compared to T group. Conclusion: Clinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of AAAS mutations in our cohort. Phenotype of T group differs from that of NT group and merits future research.

  17. Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

    Science.gov (United States)

    Patt, Hiren; Koehler, Katrin; Lodha, Sailesh; Yerawar, Chaitanya; Huebner, Angela; Thakkar, Kunal; Arya, Sneha; Nair, Sandhya; Goroshi, Manjunath; Ganesh, Hosahithlu; Sarathi, Vijaya; Lila, Anurag; Bandgar, Tushar; Shah, Nalini

    2017-01-01

    Objective To study genotype–phenotype spectrum of triple A syndrome (TAS). Methods Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8) and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 publications). Results Median age at presentation was 4.75 years (range: 4–10) and 5 years (range: 1–42) for cohorts 1 and 2, respectively. Alacrima, adrenal insufficiency (AI), achalasia and neurological dysfunction (ND) were seen in 8/8, 8/8, 7/8 and 4/8 patients in cohort 1, and in 99, 91, 93 and 79% patients in cohort 2, respectively. In both cohorts, alacrima was present since birth while AI and achalasia manifested before ND. Mineralocorticoid deficiency (MC) was uncommon (absent in cohort 1, 12.5% in cohort 2). In cohort 1, splice-site mutation in exon 1 (p.G14Vfs*45) was commonest, followed by a deletion in exon 8 (p.S255Vfs*36). Out of 65 mutations in cohort 2, 14 were recurrent and five exhibited regional clustering. AI was more prevalent, more often a presenting feature, and was diagnosed at younger age in T group (those with truncating mutations) as compared to NT (non-truncating mutations) group. ND was more prevalent, more common a presenting feature, with later age at onset in NT as compared to T group. Conclusion Clinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of AAAS mutations in our cohort. Phenotype of T group differs from that of NT group and merits future research. PMID:29180348

  18. Pulmonary Arteriovenous Fistula: Clinical and Histologic Spectrum of Four Cases

    Directory of Open Access Journals (Sweden)

    Soomin Ahn

    2016-09-01

    Full Text Available Pulmonary arteriovenous fistula (PAVF is abnormally dilated vessels that provide a right-to-left shunt between pulmonary artery and pulmonary vein and is clinically divided into simple and complex type. Here, we report four cases of surgically resected sporadic PAVFs presenting various clinical and histologic spectrums. Cases 1 (a 57-old-female and 2 (a 54-old-female presented as incidentally identified single aneurysmal fistulas and the lesions were surgically removed without complication. On the other hand, case 3 (an 11-old-male showed diffuse dilated vascular sacs involving both lungs and caused severe hemodynamic and pulmonary dysfunction. Embolization and surgical resection of the main lesion failed to relieve the symptoms. Case 4 (a 36-old-male had a localized multiloculated cyst clinically mimicking congenital cystic adenomatoid malformation. Microscopically, the lesion consisted of dilated thick vessels, consistent with the diagnosis of fistulous arteriovenous malformation/hemangioma.

  19. Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

    Science.gov (United States)

    Yesodharan, Dhanya; Büschenfelde, Uta Meyer Zum; Kutsche, Kerstin; Mohandas Nair, K; Nampoothiri, Sheela

    2018-01-31

    To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosis in subsequent pregnancy owing to the risk of having a severely affected baby. The phenotype-genotype correlation of 4 patients with FDH, over a period of 11 y from the genetic clinic in a tertiary care centre from Kerala, India was done. All four mutation proven patients were females (2 adults and 2 children). One of the adult female subjects were mildly affected, though she had a history of having a severely affected female child who expired on day six. Among the 2 affected children, one of them had an unaffected mother and the other had an affected mother. FDH has a wide clinical spectrum from very subtle findings to severe manifestations. The lethality of the condition in males and the disfigurement and multisystem involvement in females highlights the importance of confirmation of diagnosis by molecular analysis so that the family can be offered prenatal diagnosis in subsequent pregnancy.

  20. Postural Control Impairments in Individuals With Autism Spectrum Disorder: A Critical Review of Current Literature

    Science.gov (United States)

    Memari, Amir Hossein; Ghanouni, Parisa; Shayestehfar, Monir; Ghaheri, Banafsheh

    2014-01-01

    Context: Motor impairments in individuals with autism spectrum disorder (ASD) have been frequently reported. In this review, we narrow our focus on postural control impairments to summarize current literature for patterns, underlying mechanisms, and determinants of posture in this population. Evidence Acquisition: A literature search was conducted through Medline, ISI web of Knowledge, Scopus and Google Scholar to include studies between 1992 and February 2013. Results: Individuals with ASD have problems in maintaining postural control in infancy that well persists into later years. However, the patterns and underlying mechanisms are still unclear. Conclusions: Examining postural control as an endophenotype or early diagnostic marker of autism is a conceptual premise which should be considered in future investigations. At the end of the review, methodological recommendations on the assessment of postural control have also been provided. PMID:25520765

  1. Clinical spectrum of food allergies: a comprehensive review.

    Science.gov (United States)

    Ho, Marco H-K; Wong, Wilfred H-S; Chang, Christopher

    2014-06-01

    Food allergy is defined as an adverse immune response towards food proteins or as a form of a food intolerance associated with a hypersensitive immune response. It should also be reproducible by a double-blind placebo-controlled food challenge. Many reported that food reactions are not allergic but are intolerances. Food allergy often presents to clinicians as a symptom complex. This review focuses on the clinical spectrum and manifestations of various forms of food allergies. According to clinical presentations and allergy testing, there are three types of food allergy: IgE mediated, mixed (IgE/Non-IgE), and non-IgE mediated (cellular, delayed type hypersensitivity). Recent advances in food allergy in early childhood have highlighted increasing recognition of a spectrum of delayed-onset non-IgE-mediated manifestation of food allergy. Common presentations of food allergy in infancy including atopic eczema, infantile colic, and gastroesophageal reflux. These clinical observations are frequently associated with food hypersensitivity and respond to dietary elimination. Non-IgE-mediated food allergy includes a wide range of diseases, from atopic dermatitis to food protein-induced enterocolitis and from eosinophilic esophagitis to celiac disease. The most common food allergies in children include milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. Milk and egg allergies are usually outgrown, but peanut and treenut allergy tends to persist. The prevalence of food allergy in infancy is increasing and may affect up to 15-20 % of infants. The alarming rate of increase calls for a public health approach in the prevention and treatment of food allergy in children.

  2. Clinical Overlap and Psychiatric Comorbidity in Autism Spectrum Disorder in Adulthood: A Case Report

    Directory of Open Access Journals (Sweden)

    João Picoito

    2018-01-01

    Full Text Available Background: Autism Spectrum Disorder (ASD is an early neurodevelopmental disorder that accompanies the individual throughout life. There is a significant clinical overlap of ASD with other psychiatric disorders including personality disorders, psychotic disorders, obsessive-compulsive disorder and depression. Additionally, the presence of high rates of psychiatric comorbidity, often with atypical presentations, delays the ASD diagnosis and makes it more difficult to manage. Aims: To illustrate the complexity of ASD diagnosis and approach in adults. Methods: Report of a clinical case and review of the literature. Results and Conclusion: This paper presents the case of a 46-year-old patient, with ASD, with a long history of interpersonal difficulties and psychiatric symptomatology. Over the years, different diagnoses have been made, particularly schizoid and schizotypal personality disorders, psychosis not otherwise specified and paranoid schizophrenia, which led to poor adherence to treatment, and prevented a full understanding of the patient’s clinical presentation and lifelong struggles.

  3. Clinical nursing and midwifery research: grey literature in African countries.

    Science.gov (United States)

    Sun, C; Dohrn, J; Omoni, G; Malata, A; Klopper, H; Larson, E

    2016-03-01

    This study reviewed grey literature to assess clinical nursing and midwifery research conducted in southern and eastern African countries over the past decade. The shortage of published nursing research from African countries severely limits the ability of practicing nurses and midwives to base clinical decisions on solid evidence. However, little is known regarding unpublished or unindexed clinical research ('grey literature'), a potentially rich source of information. Identifying these sources may reveal resources to assist nurses in providing evidence-based care. This scoping review of grey literature on clinical nursing and midwifery research in southern and eastern African countries helped to identify gaps in research and assess whether these gaps differ from published research. Systematic searches of grey literature were performed. Research was included if it was conducted by nurses in 1 of 25 southern or eastern African countries, between 2004 and 2014 and included patient outcomes. Data were extracted on location, institution, research topic, institutional connections and author information. Chi-square tests were performed to compare differences between indexed and non-indexed literature. We found 262 studies by 287 authors from 17 southern and eastern African countries covering 13 topics. Although all topics were also found in indexed literature and there were statistically significant differences between the number of times, fewer topics were covered in grey literature vs. indexed. Patient satisfaction and experience and traditional health practices were more likely to be published, whereas chronic disease, assault and paediatric-related research were less often published. Generally, there is a paucity of clinical nursing research in this region. This could reflect the shortage of nurses prepared to conduct research in this region. Nurses may find additional resources for evidence in the grey literature. A complete understanding of the state of nursing

  4. Peer Assisted Learning in Clinical Education: Literature Review

    Science.gov (United States)

    Henning, Jolene M.; Weidner, Thomas G.; Marty, Melissa C.

    2008-01-01

    Objective: To examine the occurrence, benefits, and preferences for peer assisted learning (PAL) in medical and allied health clinical education, and to identify areas in athletic training which need further research. Data Sources: Using relevant terms, five databases were searched for the period 1980-2006 regarding literature on the use of PAL in…

  5. [Chronic HCV hepatopathy and cryoglobulinemia. The associated clinical spectrum].

    Science.gov (United States)

    Pellicano, R; Leone, N; Maiocco, I A; Modena, V; Arena, V; Marietti, G; Puiatti, P; Palmas, F; Rizzetto, M; Ponzetto, A

    1999-01-01

    The hepatitis C infection (HCV) has numerous extrahepatic manifestations owing to the systemic nature of the infection itself. HCV infects the cells that carry a CD 81 receptor and show a marked tropism for hepatocytes, bone marrow staminal cells and circulating lymphomonocytes. One consequence of this tropism is the activation of B lymphocyte clones with the consequent production of autoantibodies and cryoglobulins. The secondary event is the formation of circulating immune complexes which, having precipitated at an intravascular level, may cause part of the extrahepatic manifestations associated with these infections. This retrospective study evaluated the manifestations correlated and/or associated with HCV hepatitis and mixed cryoglobulinaemia. This analysis showed that 75% of consecutively studied patients reveal clinically important extrahepatic manifestations. This underlines the "broad spectrum" action played by the hepatitis C virus in the host organism.

  6. Clinical spectrum of rhabdomyolysis presented to pediatric emergency department

    Science.gov (United States)

    2013-01-01

    Background Rhabdomyolysis is a potentially life-threatening syndrome that can develop from a variety of causes. The aim of the work is to analyze the clinical spectrum and to evaluate the prevalence of various etiologies in children, who present to the emergency department (ED) with rhabdomyolysis. Methods During a 6-year study period, we retrospectively analyzed the medical charts of patients, aged 18 years or younger, with a definite diagnosis of rhabdomyolysis and serum creatinine phosphokinase (CK) levels greater than 1000IU/L. We analyzed the clinical spectrum and evaluated the potential risk factors of acute renal failure (ARF). Results Thirty-seven patients (mean age = 10.2 ± 5.5 years), including 26 males and 11 females, were enrolled in the study. Two of the most common presented symptoms in these 37 patients were muscle pain and muscle weakness (83.8% and 73%, respectively). Dark urine was reported in only 5.4% of the patients. The leading cause of rhabdomyolysis in the 0- to 9-year age group was presumed infection, and the leading cause in the 10- to 18-year age group was trauma and exercise. The incidence of ARF associated with rhabdomyolysis was 8.1 % and no child needed for renal replacement therapy (RRT). We did not identify any reliable predictors of ARF or need for RRT. Conclusions The classic triad of symptoms of rhabdomyolysis includes myalgia, weakness and dark urine are not always presented in children. The cause of rhabdomyolysis in younger age is different from that of teenager group. However, the prognosis of rhabdomyolysis was good with appropriate management. PMID:24004920

  7. Clinical Spectrum, Management and Outcome of Neonatal Candidiasis

    International Nuclear Information System (INIS)

    Khan, E. A.; Choudhry, S.; Fatima, M.; Batool, Z.

    2015-01-01

    Objective: To identify clinical spectrum, management and outcome of neonatal candidiasis. Methods: The retrospective study was conducted at the Shifa International Hospital, Islamabad, Pakistan, and comprised microbiological records of all the babies admitted to the Neonatal Intensive Care Unit from January 2009 to January 2014 that were reviewed to identify those with positive candida cultures. Medical records were analysed for demographic and clinical spectrum features, management and outcome. SPSS 16 was used statistical analysis. Results: Of the total 1550 neonatal admissions, 560 (36 percent) had positive cultures, and, of them, candida was isolated in 49(8.8 percent) neonates. Among them, 13(26 percent) had candida albicans and the rest had candida species. Majority were males 34(70 percent), and preterm with 30(61 percent) being <37 weeks. The mean birth weight was 2000±873 grams. Mean age at admission was 6±7.6 days. Overall, 39(80 percent) had >2 risk factors. The commonest site of isolation was blood in 41(84 percent). Besides, 32 (65 percent) received fluconazole alone for treatment. Mean duration of anti-fungal therapy was 10±5 days (range: 1-21 days). Twelve (24 percent) neonates expired and the cause of death was candida sepsis in 10(20 percent) cases. Mortality was not significantly associated with gender, place of birth, gestation, risk factors, length of stay, prior antibiotic exposure or receipt of antifungal prophylaxis except those who were <1500 grams (p<0.05). Conclusion: Approximately one in ten at-risk neonates may develop candida sepsis with high mortality. Early institution of anti-fungal therapy may prove to be life-saving. (author)

  8. Conceptualizations of clinical leadership: a review of the literature

    Science.gov (United States)

    Mianda, Solange; Voce, Anna S

    2017-01-01

    Introduction Poor patient outcomes in South African maternal health settings have been associated with inadequately performing health care providers and poor clinical leadership at the point of care. While skill deficiencies among health care providers have been largely addressed, the provision of clinical leadership has been neglected. In order to develop and implement initiatives to ensure clinical leadership among frontline health care providers, a need was identified to understand the ways in which clinical leadership is conceptualized in the literature. Design Using the systematic quantitative literature review, papers published between 2004 and 2016 were obtained from search engines (Google Scholar and EBSCOhost). Electronic databases (CINHAL, PubMed, Medline, Academic Search Complete, Health Source: Consumer, Health Source: Nursing/Academic, ScienceDirect and Ovid®) and electronic journals (Contemporary Nurse, Journal of Research in Nursing, Australian Journal of Nursing and Midwifery, International Journal of Clinical Leadership) were also searched. Results Using preselected inclusion criteria, 7256 citations were identified. After screening 230 potentially relevant full-text papers for eligibility, 222 papers were excluded because they explored health care leadership or clinical leadership among health care providers other than frontline health care providers. Eight papers met the inclusion criteria for the review. Most studies were conducted in high-income settings. Conceptualizations of clinical leadership share similarities with the conceptualizations of service leadership but differ in focus, with the intent of improving direct patient care. Clinical leadership can be a shared responsibility, performed by every competent frontline health care provider, regardless of the position in the health care system. Conclusion Conceptualizations of clinical leadership among frontline health care providers arise mainly from high-income settings. Understanding the

  9. Conceptualizations of clinical leadership: a review of the literature.

    Science.gov (United States)

    Mianda, Solange; Voce, Anna S

    2017-01-01

    Poor patient outcomes in South African maternal health settings have been associated with inadequately performing health care providers and poor clinical leadership at the point of care. While skill deficiencies among health care providers have been largely addressed, the provision of clinical leadership has been neglected. In order to develop and implement initiatives to ensure clinical leadership among frontline health care providers, a need was identified to understand the ways in which clinical leadership is conceptualized in the literature. Using the systematic quantitative literature review, papers published between 2004 and 2016 were obtained from search engines (Google Scholar and EBSCOhost). Electronic databases (CINHAL, PubMed, Medline, Academic Search Complete, Health Source: Consumer, Health Source: Nursing/Academic, ScienceDirect and Ovid ® ) and electronic journals ( Contemporary Nurse , Journal of Research in Nursing , Australian Journal of Nursing and Midwifery , International Journal of Clinical Leadership ) were also searched. Using preselected inclusion criteria, 7256 citations were identified. After screening 230 potentially relevant full-text papers for eligibility, 222 papers were excluded because they explored health care leadership or clinical leadership among health care providers other than frontline health care providers. Eight papers met the inclusion criteria for the review. Most studies were conducted in high-income settings. Conceptualizations of clinical leadership share similarities with the conceptualizations of service leadership but differ in focus, with the intent of improving direct patient care. Clinical leadership can be a shared responsibility, performed by every competent frontline health care provider, regardless of the position in the health care system. Conceptualizations of clinical leadership among frontline health care providers arise mainly from high-income settings. Understanding the influence of context on

  10. Spectrum

    DEFF Research Database (Denmark)

    Høgfeldt Hansen, Leif

    2016-01-01

    The publication functions as a proces description of the development and construction of an urban furniture SPECTRUM in the city of Gwangju, Republic of Korea. It is used as the cataloque for the exhibition of Spectrum.......The publication functions as a proces description of the development and construction of an urban furniture SPECTRUM in the city of Gwangju, Republic of Korea. It is used as the cataloque for the exhibition of Spectrum....

  11. Improving Clinical Prediction of Bipolar Spectrum Disorders in Youth

    Directory of Open Access Journals (Sweden)

    Thomas W. Frazier

    2014-03-01

    Full Text Available This report evaluates whether classification tree algorithms (CTA may improve the identification of individuals at risk for bipolar spectrum disorders (BPSD. Analyses used the Longitudinal Assessment of Manic Symptoms (LAMS cohort (629 youth, 148 with BPSD and 481 without BPSD. Parent ratings of mania symptoms, stressful life events, parenting stress, and parental history of mania were included as risk factors. Comparable overall accuracy was observed for CTA (75.4% relative to logistic regression (77.6%. However, CTA showed increased sensitivity (0.28 vs. 0.18 at the expense of slightly decreased specificity and positive predictive power. The advantage of CTA algorithms for clinical decision making is demonstrated by the combinations of predictors most useful for altering the probability of BPSD. The 24% sample probability of BPSD was substantially decreased in youth with low screening and baseline parent ratings of mania, negative parental history of mania, and low levels of stressful life events (2%. High screening plus high baseline parent-rated mania nearly doubled the BPSD probability (46%. Future work will benefit from examining additional, powerful predictors, such as alternative data sources (e.g., clinician ratings, neurocognitive test data; these may increase the clinical utility of CTA models further.

  12. Combined classical spindle cell/pleomorphic lipoma spectrum imaging and clinical data

    Energy Technology Data Exchange (ETDEWEB)

    Younan, Yara; Gonzalez, Felix; Umpierrez, Monica; Singer, Adam D. [Emory University Hospital, Department of Radiology and Imaging Sciences Section of Musculoskeletal Imaging, Atlanta, GA (United States); Martinez, Anthony; Edgar, Mark [Emory University Hospital, Department of Pathology, Atlanta, GA (United States); Reimer, Nickolas [Emory University Hospital, Department of Orthopedic Surgery, Atlanta, GA (United States); Subhawong, Ty [University of Miami, Department of Radiology, Miami, FL (United States)

    2018-01-15

    Compile the largest study to date on the imaging and clinical features of the classic spindle cell/pleomorphic lipoma spectrum and suggest this diagnosis be included in the differential for benign and malignant macroscopic fat-containing soft tissue masses regardless of the mass location or patient demographics. An institutional search was performed to identify all available classic-type spindle cell/pleomorphic lipomas with available demographic and imaging data. Images and reports were analyzed by one MSK-trained radiologist and radiographic, anatomic and clinical data were recorded. Additionally, a literature search was performed to identify studies describing the spindle cell lipoma spectrum imaging features and were combined with institutional data. Forty-two institutional cases were identified, 37 of which had MRIs performed among which 21 had images available (T1- and T2-weighted pulse sequences) for review while the remainder had outside reports detailing the mass imaging features. There was a mean age of 57 with 79% of cases occurring in males. Contrary to prior reports, 57% of masses were subcutaneous, and the neck and back region accounted for 26% of cases. When the institutional cases were combined with available data in the literature, there was a new sample size of 91 masses, 74 of which had MRI and/or CT data. Eighty-seven percent of masses were heterogeneous, 51% were composed of less than 75% fat, 65% were in the back, neck or shoulder region, 27% of masses were deep and 91% demonstrated enhancement. Eighty-two percent of patients were males with a mean age of 58 at excision. Imaging features, patient demographics and tumor location alone are not enough to differentiate tumors of the spindle cell lipoma spectrum from other macroscopic fat-containing benign and malignant tumors, and these entities should be included in the same imaging differential diagnosis. (orig.)

  13. The Full Spectrum of Clinical Ethical Issues in Kidney Failure. Findings of a Systematic Qualitative Review.

    Science.gov (United States)

    Kahrass, Hannes; Strech, Daniel; Mertz, Marcel

    2016-01-01

    When treating patients with kidney failure, unavoidable ethical issues often arise. Current clinical practice guidelines some of them, but lack comprehensive information about the full range of relevant ethical issues in kidney failure. A systematic literature review of such ethical issues supports medical professionalism in nephrology, and offers a solid evidential base for efforts that aim to improve ethical conduct in health care. To identify the full spectrum of clinical ethical issues that can arise for patients with kidney failure in a systematic and transparent manner. A systematic review in Medline (publications in English or German between 2000 and 2014) and Google Books (with no restrictions) was conducted. Ethical issues were identified by qualitative text analysis and normative analysis. The literature review retrieved 106 references that together mentioned 27 ethical issues in clinical care of kidney failure. This set of ethical issues was structured into a matrix consisting of seven major categories and further first and second-order categories. The systematically-derived matrix helps raise awareness and understanding of the complexity of ethical issues in kidney failure. It can be used to identify ethical issues that should be addressed in specific training programs for clinicians, clinical practice guidelines, or other types of policies dealing with kidney failure.

  14. Clinical Spectrum of Medium-Sized Vessel Vasculitis.

    Science.gov (United States)

    Alibaz-Oner, Fatma; Koster, Matthew J; Crowson, Cynthia S; Makol, Ashima; Ytterberg, Steven R; Salvarani, Carlo; Matteson, Eric L; Warrington, Kenneth J

    2017-06-01

    Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis of medium-sized visceral vessels. However, cutaneous arteritis (CA) and gastrointestinal (GI) vasculitis are forms of single-organ vasculitis having indistinguishable histopathologic findings from PAN. The aim of this study was to evaluate and compare the clinical characteristics, treatment, and outcomes of patients with systemic PAN, CA, and GI vasculitis. Retrospective cohorts were assembled, consisting of patients with PAN, CA, and GI vasculitis between 1980 and 2014. The demographics, clinical characteristics, treatment, and outcomes of patients were abstracted from medical records. We included 48 patients with PAN, 41 patients with CA, and 19 patients with GI vasculitis. The disease of 1 patient evolved from CA to systemic PAN during the disease course. At diagnosis, 94% of patients with PAN, 93% of patients with CA, and 67% of patients with GI vasculitis were treated with glucocorticoids. Additional immunosuppressive agents were used in 67% of PAN, 37% of GI vasculitis, and 32% of CA cases. The 5-year cumulative relapse rate was 45.2% in CA, and only 9.6% in PAN during a followup of approximately 6 years. No deaths were observed in the CA group. The survival rate at 10 years was 66% in the PAN group and 61% in the GI vasculitis group. Systemic PAN, CA, and GI vasculitis take different clinical courses and therefore may be different diseases, rather than existing on a spectrum of the same disease. Progression of CA to systemic PAN is very rare. Relapse risk is low during followup in PAN. Patients with CA have a higher relapse rate than those with systemic PAN, possibly due to less use of immunosuppressive therapy in CA. © 2016, American College of Rheumatology.

  15. Instructional scaffolding to improve students' skills in evaluating clinical literature.

    Science.gov (United States)

    Dawn, Stefani; Dominguez, Karen D; Troutman, William G; Bond, Rucha; Cone, Catherine

    2011-05-10

    To implement and assess the effectiveness of an activity to teach pharmacy students to critically evaluate clinical literature using instructional scaffolding and a Clinical Trial Evaluation Rubric. The literature evaluation activity centered on a single clinical research article and involved individual, small group, and large group instruction, with carefully structured, evidence-based scaffolds and support materials centered around 3 educational themes: (1) the reader's awareness of text organization, (2) contextual/background information and vocabulary, and (3) questioning, prompting, and self-monitoring (metacognition). Students initially read the article, scored it using the rubric, and wrote an evaluation. Students then worked individually using a worksheet to identify and define 4 to 5 vocabulary/concept knowledge gaps. They then worked in small groups and as a class to further improve their skills. Finally, they assessed the same article using the rubric and writing a second evaluation. Students' rubric scores for the article decreased significantly from a mean pre-activity score of 76.7% to a post-activity score of 61.7%, indicating that their skills in identifying weaknesses in the article's study design had improved. Use of instructional scaffolding in the form of vocabulary supports and the Clinical Trial Evaluation Rubric improved students' ability to critically evaluate a clinical study compared to lecture-based coursework alone.

  16. Clinical Ethics Support for Healthcare Personnel: An Integrative Literature Review.

    Science.gov (United States)

    Rasoal, Dara; Skovdahl, Kirsti; Gifford, Mervyn; Kihlgren, Annica

    2017-12-01

    This study describes which clinical ethics approaches are available to support healthcare personnel in clinical practice in terms of their construction, functions and goals. Healthcare personnel frequently face ethically difficult situations in the course of their work and these issues cover a wide range of areas from prenatal care to end-of-life care. Although various forms of clinical ethics support have been developed, to our knowledge there is a lack of review studies describing which ethics support approaches are available, how they are constructed and their goals in supporting healthcare personnel in clinical practice. This study engages in an integrative literature review. We searched for peer-reviewed academic articles written in English between 2000 and 2016 using specific Mesh terms and manual keywords in CINAHL, MEDLINE and Psych INFO databases. In total, 54 articles worldwide described clinical ethics support approaches that include clinical ethics consultation, clinical ethics committees, moral case deliberation, ethics rounds, ethics discussion groups, and ethics reflection groups. Clinical ethics consultation and clinical ethics committees have various roles and functions in different countries. They can provide healthcare personnel with advice and recommendations regarding the best course of action. Moral case deliberation, ethics rounds, ethics discussion groups and ethics reflection groups support the idea that group reflection increases insight into ethical issues. Clinical ethics support in the form of a "bottom-up" perspective might give healthcare personnel opportunities to think and reflect more than a "top-down" perspective. A "bottom-up" approach leaves the healthcare personnel with the moral responsibility for their choice of action in clinical practice, while a "top-down" approach risks removing such moral responsibility.

  17. Clinical placements in mental health: a literature review.

    Science.gov (United States)

    Happell, Brenda; Gaskin, Cadeyrn J; Byrne, Louise; Welch, Anthony; Gellion, Stephen

    2015-01-01

    Gaining experience in clinical mental health settings is central to the education of health practitioners. To facilitate the ongoing development of knowledge and practice in this area, we performed a review of the literature on clinical placements in mental health settings. Searches in Academic Search Complete, CINAHL, Medline and PsycINFO databases returned 244 records, of which 36 met the selection criteria for this review. Five additional papers were obtained through scanning the reference lists of those papers included from the initial search. The evidence suggests that clinical placements may have multiple benefits (e.g. improving students' skills, knowledge, attitudes towards people with mental health issues and confidence, as well as reducing their fears and anxieties about working in mental health). The location and structure of placements may affect outcomes, with mental health placements in non-mental health settings appearing to have minimal impact on key outcomes. The availability of clinical placements in mental health settings varies considerably among education providers, with some students completing their training without undertaking such structured clinical experiences. Students have generally reported that their placements in mental health settings have been positive and valuable experiences, but have raised concerns about the amount of support they received from education providers and healthcare staff. Several strategies have been shown to enhance clinical placement experiences (e.g. providing students with adequate preparation in the classroom, implementing learning contracts and providing clinical supervision). Educators and healthcare staff need to work together for the betterment of student learning and the healthcare professions.

  18. Usher syndrome in Denmark: mutation spectrum and some clinical observations.

    Science.gov (United States)

    Dad, Shzeena; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth; Grønskov, Karen; Karstensen, Helena Gásdal; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Françoise; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth Birk

    2016-09-01

    Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods. Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of USH1C , USH2A or CLRN1 or by Arrayed Primer EXtension (APEX) method. Mutations in 12 individuals (7 USH1, 5 USH2) were found by targeted NGS of ten known USH genes. Five novel pathogenic variants were identified. We combined our data with previously published, and obtained an overview of the USH mutation spectrum in Denmark, including 100 unrelated individuals; 32 with USH1, 67 with USH2, and 1 with USH3. Macular edema was observed in 44 of 117 individuals. Olfactory function was tested in 12 individuals and found to be within normal range in all. Mutations that lead to USH1 were predominantly identified in MYO7A (75%), whereas all mutations in USH2 cases were identified in USH2A . The MYO7A mutation c.93C>A, p.(Cys31*) accounted for 33% of all USH1 mutations and the USH2A c.2299delG, p.(Glu767Serfs*21) variant accounted for 45% of all USH2 mutations in the Danish cohort.

  19. Conceptualizations of clinical leadership: a review of the literature

    Directory of Open Access Journals (Sweden)

    Mianda S

    2017-10-01

    Full Text Available Solange Mianda, Anna S Voce Department of Public Health Medicine, School of Nursing and Public Health, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa Introduction: Poor patient outcomes in South African maternal health settings have been associated with inadequately performing health care providers and poor clinical leadership at the point of care. While skill deficiencies among health care providers have been largely addressed, the provision of clinical leadership has been neglected. In order to develop and implement initiatives to ensure clinical leadership among frontline health care providers, a need was identified to understand the ways in which clinical leadership is conceptualized in the literature.Design: Using the systematic quantitative literature review, papers published between 2004 and 2016 were obtained from search engines (Google Scholar and EBSCOhost. Electronic databases (CINHAL, PubMed, Medline, Academic Search Complete, Health Source: Consumer, Health Source: Nursing/Academic, ScienceDirect and Ovid® and electronic journals (Contemporary Nurse, Journal of Research in Nursing, Australian Journal of Nursing and Midwifery, International Journal of Clinical Leadership were also searched.Results: Using preselected inclusion criteria, 7256 citations were identified. After screening 230 potentially relevant full-text papers for eligibility, 222 papers were excluded because they explored health care leadership or clinical leadership among health care providers other than frontline health care providers. Eight papers met the inclusion criteria for the review. Most studies were conducted in high-income settings. Conceptualizations of clinical leadership share similarities with the conceptualizations of service leadership but differ in focus, with the intent of improving direct patient care. Clinical leadership can be a shared responsibility, performed by every competent frontline health care provider

  20. [Teaching methods for clinical settings: a literature review].

    Science.gov (United States)

    Brugnolli, Anna; Benaglio, Carla

    2017-01-01

    . Teaching Methods for clinical settings: a review. The teaching process during internship requires several methods to promote the acquisition of more complex technical skills such as relational, decisional and planning abilities. To describe effective teaching methods to promote the learning of relational, decisional and planning skills. A literature review of the teaching methods that have proven most effective, most appreciated by students, and most frequently used in Italian nursing schools. Clinical teaching is a central element to transform clinical experiences during internship in professional competences. The students are gradually brought to become more independent, because they are offered opportunities to practice in real contexts, to receive feedback, to have positive role models, to become more autonomous: all elements that facilitate and potentiate learning. Clinical teaching should be based on a variety of methods. The students value a gradual progression both in clinical experiences and teaching strategies from more supervised methods to methods more oriented towards reflecting on clinical practice and self-directed learning.

  1. Clinical spectrum of Castleman disease-associated neuropathy.

    Science.gov (United States)

    Naddaf, Elie; Dispenzieri, Angela; Mandrekar, Jay; Mauermann, Michelle L

    2016-12-06

    To define the peripheral neuropathy phenotypes associated with Castleman disease. We conducted a retrospective chart review for patients with biopsy-proven Castleman disease evaluated between January 2003 and December 2014. Patients with associated peripheral neuropathy were identified and divided into 2 groups: those with Castleman disease without POEMS syndrome (CD-PN) and those with Castleman disease with POEMS syndrome (CD-POEMS). We used a cohort of patients with POEMS as controls. Clinical, electrodiagnostic, and laboratory characteristics were collected and compared among patient subgroups. There were 7 patients with CD-PN, 20 with CD-POEMS, and 122 with POEMS. Patients with CD-PN had the mildest neuropathy characterized by predominant sensory symptoms with no pain and mild distal sensory deficits (median Neuropathy Impairment Score of 7 points). Although both patients with CD-POEMS and patients with POEMS had a severe sensory and motor neuropathy, patients with CD-POEMS were less affected (median Neuropathy Impairment Score of 33 and 66 points, respectively). The degree of severity was also reflected on electrodiagnostic testing in which patients with CD-PN demonstrated a mild degree of axonal loss, followed by patients with CD-POEMS and then those with POEMS. Demyelinating features, defined by European Federation of Neurologic Societies/Peripheral Nerve Society criteria, were present in 43% of the CD-PN, 78% of the CD-POEMS, and 86% of the POEMS group. There is a spectrum of demyelinating peripheral neuropathies associated with Castleman disease. CD-PN is sensory predominant and is the mildest phenotype, whereas CD-POEMS is a more severe sensory and motor neuropathy. Compared to the POEMS cohort, those with CD-POEMS neuropathy have a similar but less severe phenotype. Whether these patients respond differently to treatment deserves further study. © 2016 American Academy of Neurology.

  2. Clinical spectrum of Castleman disease–associated neuropathy

    Science.gov (United States)

    Naddaf, Elie; Dispenzieri, Angela; Mandrekar, Jay

    2016-01-01

    Objective: To define the peripheral neuropathy phenotypes associated with Castleman disease. Methods: We conducted a retrospective chart review for patients with biopsy-proven Castleman disease evaluated between January 2003 and December 2014. Patients with associated peripheral neuropathy were identified and divided into 2 groups: those with Castleman disease without POEMS syndrome (CD-PN) and those with Castleman disease with POEMS syndrome (CD-POEMS). We used a cohort of patients with POEMS as controls. Clinical, electrodiagnostic, and laboratory characteristics were collected and compared among patient subgroups. Results: There were 7 patients with CD-PN, 20 with CD-POEMS, and 122 with POEMS. Patients with CD-PN had the mildest neuropathy characterized by predominant sensory symptoms with no pain and mild distal sensory deficits (median Neuropathy Impairment Score of 7 points). Although both patients with CD-POEMS and patients with POEMS had a severe sensory and motor neuropathy, patients with CD-POEMS were less affected (median Neuropathy Impairment Score of 33 and 66 points, respectively). The degree of severity was also reflected on electrodiagnostic testing in which patients with CD-PN demonstrated a mild degree of axonal loss, followed by patients with CD-POEMS and then those with POEMS. Demyelinating features, defined by European Federation of Neurologic Societies/Peripheral Nerve Society criteria, were present in 43% of the CD-PN, 78% of the CD-POEMS, and 86% of the POEMS group. Conclusion: There is a spectrum of demyelinating peripheral neuropathies associated with Castleman disease. CD-PN is sensory predominant and is the mildest phenotype, whereas CD-POEMS is a more severe sensory and motor neuropathy. Compared to the POEMS cohort, those with CD-POEMS neuropathy have a similar but less severe phenotype. Whether these patients respond differently to treatment deserves further study. PMID:27807187

  3. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy.

    Science.gov (United States)

    El Achkar, Christelle M; Spence, Sarah J

    2015-06-01

    The association between autism spectrum disorder (ASD) and epilepsy has been described for decades, and yet we still lack the full understanding of this relationship both clinically and at the pathophysiologic level. This review evaluates the available data in the literature pertaining to the clinical characteristics of patients with autism spectrum disorder who develop epilepsy and, conversely, patients with epilepsy who develop autism spectrum disorder. Many studies demonstrate an increased risk of epilepsy in individuals with ASD, but rates vary widely. This variability is likely secondary to the different study methods employed, including the study population and definitions of the disorders. Established risk factors for an increased risk of epilepsy in patients with ASD include intellectual disability and female gender. There is some evidence of an increased risk of epilepsy associated with other factors such as ASD etiology (syndromic), severity of autistic features, developmental regression, and family history. No one epilepsy syndrome or seizure type has been associated, although focal or localization-related seizures are often reported. The age at seizure onset can vary from infancy to adulthood with some evidence of a bimodal age distribution. The severity and intractability of epilepsy in populations with ASD have not been well studied, and there is very little investigation of the role that epilepsy plays in the autism behavioral phenotype. There is evidence of abnormal EEGs (especially epileptiform abnormalities) in children with ASD even in the absence of clinical seizures, but very little is known about this phenomenon and what it means. The development of autism spectrum disorder in patients with epilepsy is less well studied, but there is evidence that the ASD risk is greater in those with epilepsy than in the general population. One of the risk factors is intellectual disability, and there is some evidence that the presence of a particular seizure

  4. Understanding the Self in Individuals with Autism Spectrum Disorders (ASD: A Review of Literature

    Directory of Open Access Journals (Sweden)

    Ann X. Huang

    2017-08-01

    Full Text Available When the system of self is explored in individuals with Autism Spectrum Disorders (ASDs, it is important to measure it via both their own perceptions of the self and their understanding of others’ perceptions on themselves at a multidimensional level. This paper reviews existing research in this area using a three-dimension approach. Researchers have found that impairments in the self-system are usually correlated with these individuals’ social and cognitive functioning levels: high functioning individuals with ASD who have higher IQ are found to have better awareness of their limitations in social and communication domains than those with lower IQ. Many researchers believe that there are impairments in the psychological (but not physical self in individuals with ASD, such as theory of mind deficits due to social and communicative impairments. On the other hand, some researchers argue that individuals with ASD have selective rather than global impairments in the self. In other words, the impairment usually lies in a specific aspect of functioning in individuals with ASD. Insights from the review of existing literature on this topic may be able to shed some lights on the development of effective intervention programs to improve social communication deficits in this population.

  5. Clinical spectrum and outcome of pulmonary nocardiosis: 5-year experience

    Directory of Open Access Journals (Sweden)

    Akashdeep Singh

    2016-01-01

    Full Text Available Background: Pulmonary nocardiosis is a rare but a life-threatening infection caused by Nocardia spp. The diagnosis is often missed and delayed resulting in delay in appropriate treatment and thus higher mortality. Aim: In this study, we aim to evaluate the clinical spectrum and outcome of patients with pulmonary nocardiosis. Methods: A retrospective, 5-year (2009-2014 review of demographic profile, risk factors, clinical manifestations, imaging findings, treatment, and outcome of patients with pulmonary nocardiosis admitted to a tertiary care hospital. Results: The median age of the study subjects was 54 years (range, 16-76 and majority of them (75% were males. The risk factors for pulmonary nocardiosis identified in our study were long-term steroid use (55.6%, chronic lung disease (52.8%, diabetes (27.8%, and solid-organ transplantation (22.2%. All the patients were symptomatic, and the most common symptoms were cough (91.7%, fever (78%, and expectoration (72%. Almost two-third of the patients were initially misdiagnosed and the alternative diagnosis included pulmonary tuberculosis (n = 7, community-acquired pneumonia (n = 5, lung abscess (n = 4, invasive fungal infection (n = 3, lung cancer (n = 2, and Wegener′s granulomatosis (n = 2. The most common radiographic features were consolidation (77.8% and nodules (56%. The mortality rate for indoor patients was 33% despite treatment. Higher mortality rate was observed among those who had brain abscess (100.0%, HIV positivity (100%, need for mechanical ventilation (87.5%, solid-organ transplantation (50%, and elderly (age > 60 years patients (43%. Conclusion: The diagnosis of pulmonary nocardiosis is often missed and delayed resulting in delay in appropriate treatment and thus high mortality. A lower threshold for diagnosing pulmonary nocardiosis needs to be exercised, in chest symptomatic patients with underlying chronic lung diseases or systemic immunosuppression, for the early diagnosis, and

  6. Do Social Stories Help to Decrease Disruptive Behaviour in Children with Autistic Spectrum Disorders? A Review of the Published Literature

    Science.gov (United States)

    Rhodes, Christine

    2014-01-01

    A structured search and identification of themes within the literature regarding the use of Social Stories to decrease disruptive behaviour in children with autistic spectrum disorders is presented. The examination of seven studies showed that the Social Story intervention was successful for the majority of the participants, although the level of…

  7. Vocational Support Approaches in Autism Spectrum Disorder: A Synthesis Review of the Literature

    Science.gov (United States)

    Nicholas, David B.; Attridge, Mark; Zwaigenbaum, Lonnie; Clarke, Margaret

    2015-01-01

    This synthesis-based analysis identifies and reviews studies evaluating vocational resources for adults with autism spectrum disorder. It is based on a larger systematic review of intervention studies in autism spectrum disorder, from which a critical interpretive synthesis was conducted on studies related to vocation and autism spectrum disorder.…

  8. A review on the clinical spectrum and natural history of human influenza.

    Science.gov (United States)

    Punpanich, Warunee; Chotpitayasunondh, Tawee

    2012-10-01

    The objective of this review is to provide updated information on the clinical spectrum and natural history of human influenza, including risk factors for severe disease, and to identify the knowledge gap in this area. We searched the MEDLINE database of the recent literature for the period January 2009 to August 17, 2011 with regard to the abovementioned aspects of human influenza, focusing on A(H1N1)pdm09 and seasonal influenza. The clinical spectrum and outcomes of cases of A(H1N1)pdm09 influenza have been mild and rather indistinguishable from those of seasonal influenza. Sporadic cases covering a wide range of neurological complications have been reported. Underlying predisposing conditions considered to be high-risk for A(H1N1)pdm09 infections are generally similar to those of seasonal influenza, but with two additional risk groups: pregnant women and the morbidly obese. Co-infections with bacteria and D222/N variants or 225G substitution of the viral genome have also been reported to be significant factors associated with the severity of disease. The current knowledge gap includes: (1) a lack of clarification regarding the relatively greater severity of the Mexican A(H1N1)pdm09 influenza outbreak in the early phase of the pandemic; (2) insufficient data on the clinical impact, risk factors, and outcomes of human infections caused by resistant strains of influenza; and (3) insufficient data from less developed countries that would enable them to prioritize strategies for influenza prevention and control. Clinical features and risk factors of A(H1N1)pdm09 are comparable to those of seasonal influenza. Emerging risk factors for severe disease with A(H1N1)pdm09 include morbid obesity, pregnancy, bacterial co-infections, and D222/N variants or 225G substitution of the viral genome. Copyright © 2012 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  9. [Acupuncture for aphasia: a retrospective analysis of clinical literature].

    Science.gov (United States)

    Tan, Jie; Zhang, Hong; Han, Guodong; Ai, Kun; Deng, Shifeng

    2016-04-01

    With the Meta-analysis method, the clinical efficacy of acupuncture and other regular methods for aphasia was evaluated, and the acupoints selection for aphasia was explored. The acupuncture literature of clinical randomized control trials for aphasia published in CNKI, WANFANG, VIP and CBM database was searched; the statistical analysis of clinical efficacy of acupuncture and other regular methods for aphasia was performed by using software Revman 5. 2 provided by Cochrane library. A file of Microsoft Excel was established to perform the analysis of acupoints selection based on frequency analysis method, so as to summarize the characteristics and rules. Totally 385 articles were searched, and 37 articles those met the inclusive criteria was included, involving 1,260 patients in the acupuncture group and 1 238 patients in the control group. The Meta-analysis results showed OR = 3.82, 95% Cl [3.01, 4.85]; rhombus was located on the right side and the funnel plot was nearly symmetry, indicating the treatment effect of the acupuncture group for aphasia was superior to the control group (Z = 11.04, P aphasia is superior to that of speech rehabilitation training and medication treatment alone. The clinical treatment for aphasia focuses on its local effect; the main acupoints are in the head and face, and the meridians are governor vessel, extra channels and conception vessel.

  10. Cytokine Gene Polymorphisms across Tuberculosis Clinical Spectrum in Pakistani Patients

    Science.gov (United States)

    Ansari, Ambreen; Talat, Najeeha; Jamil, Bushra; Hasan, Zahra; Razzaki, Tashmeem; Dawood, Ghaffar; Hussain, Rabia

    2009-01-01

    Background Pakistan ranks 7th globally in terms of tuberculosis (TB) disease burden (incidence 181/100000 pop./yr; prevalence of 329/pop./yr). Reports from different populations show variable associations of TB susceptibility and severity with cytokine gene polymorphisms. Tuberculosis clinical severity is multi-factorial and cytokines play a pivotal role in the modulation of disease severity. We have recently reported that the ratio of two key cytokines (IFNγ and IL10) show significant correlation with the severity spectrum of tuberculosis. The objective of the current study was to analyze the frequency of cytokine gene polymorphisms linked to high and low responder phenotypes (IFNγ +874 T hi→A lo and IL10 −1082 G lo→A hi) in tuberculosis patients. Methods and Findings Study groups were stratified according to disease site as well as disease severity: Pulmonary N = 111 (Minimal, PMN = 19; Moderate, PMD = 63; Advance, PAD = 29); Extra-pulmonary N = 67 (Disseminated DTB = 20, Localized LTB = 47) and compared with healthy controls (TBNA = 188). Genotype analyses were carried out using amplification refractory mutation system-PCR (ARMS-PCR) and stimulated whole blood (WB) culture assay was used for assessing cytokine profiles. Our results suggest that the IFNγ +874 TT genotype and T allele was overrepresented in PMN (p = 0.01) and PMD (p = 0.02). IFNγ +874 TT in combination with IL10 GG lo genotypes showed the highest association (χ2 = 6.66, OR = 6.06, 95% CI = 1.31–28.07, p = 0.01). IFNγ AA lo on the other hand in combination with IL10 GG lo increased the risk of PAD (OR = 5.26; p = 0.005) and DTB (OR = 3.59; p = 0.045). Conclusion These findings are consistent with the role of IL10 in reducing collateral tissue damage and the protective role of IFNγ in limiting disease in the lung. PMID:19274101

  11. Clinical Manifestations of Self-disorders in Schizophrenia Spectrum Conditions

    Directory of Open Access Journals (Sweden)

    Henriksen Mads Gram

    2017-09-01

    Full Text Available This article explores the phenomenologically informed, theoretical and empirical research direction on self-disorders in the schizophrenia spectrum conditions. First, we describe the concept of ‘self’ that is operative in the concept of ‘self-disorders’ and we discuss how this self may be disordered or fragile in the schizophrenia spectrum. Second, we offer a detailed psychopathological presentation and discussion of 3 patients with schizophrenia. The vignettes provide paradigmatic examples of self-disorders in schizophrenia. Third, we summarize the main findings in the current empirical research on self-disorders. These findings consistently indicate that self-disorders constitute a crucial, trait phenotype of the schizophrenia spectrum.

  12. A CLINICAL STUDY TO ANALYSE THE SPECTRUM OF PERITONITIS DUE TO HOLLOW VISCUS PERFORATION

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    Sai Datta

    2015-07-01

    Full Text Available Perforation peritonitis is the one of the common abdominal surgical emergency . The spectrum of etiology of perforation in Tropical countries continues to be different from its Western counterpart. The objective of the study was to highlight the spectrum of perforation peritonitis as encountered at K aturi M edical C ollege and H ospital , G untur. A.P. Hundred consec utive cases of perforation peritonitis over a period of 26 months . (June 2010 - July 2012 were reviewed in terms of clinical presentation, operative findings and postoperative course retrospectively. The most common type of perforation in our series was per forated duodenal ulcer (56 cases followed by Appendicular (16 cases, Ileal (12 cases, Colonic ( 6 cases, Gastric ( 4 cases, Jejunal (2 cases, Gall bladder (2 cases, Anastomotic ulcer ( 2 cases were reported . Despite delay in seeking medical treatment (32%, the overall mortality (11% , favorably comparable with other published series though the overall morbidity (29% was favorable. In contrast to western literature, where lower gastrointestinal tract perforations predominate, upper gastrointestinal tr act perforations constitute the majority of cases in India. Mostly males and elderly people are affected due to injudicious usage of NSAIDS, alcohol, smoking. ( 11 Withdrawal from these habits and using of proton pump inhibitors and H - Pylori eradication which warrant early recognition and prompt treatment to avoid serious complications and death.

  13. Employment Programmes and Interventions Targeting Adults with Autism Spectrum Disorder: A Systematic Review of the Literature

    Science.gov (United States)

    Hedley, Darren; Uljarevic, Mirko; Cameron, Lauren; Halder, Santoshi; Richdale, Amanda; Dissanayake, Cheryl

    2017-01-01

    Individuals with autism spectrum disorder face significant challenges entering the workforce; yet research in this area is limited and the issues are poorly understood. In this systematic review, empirical peer-reviewed studies on employment programmes, interventions and employment-related outcomes in individuals with autism spectrum disorder over…

  14. Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

    Science.gov (United States)

    Sunga, Annette Y; Ricker, Charité; Espenschied, Carin R; Castillo, Danielle; Melas, Marilena; Herzog, Josef; Bannon, Sarah; Cruz-Correa, Marcia; Lynch, Patrick; Solomon, Ilana; Gruber, Stephen B; Weitzel, Jeffrey N

    2017-04-01

    Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations. Copyright © 2017. Published by Elsevier Inc.

  15. WhatsApp in Clinical Practice: A Literature Review.

    Science.gov (United States)

    Mars, Maurice; Scott, Richard E

    2016-01-01

    Several spontaneous telemedicine services using WhatsApp Messenger have started in South Africa raising issues of confidentiality, data security and storage, record keeping and reporting. This study reviewed the literature on WhatsApp in clinical practice, to determine how it is used, and users' satisfaction. Pubmed, Scopus, Science Direct and IEE Expert databases were searched using the search term WhatsApp and Google Scholar using the terms WhatsApp Telemedicine and WhatsApp mHealth. Thirty-two papers covering 17 disciplines were relevant with the most papers, 12, from India. Seventeen papers reported the use of WhatsApp Groups within departments, 14 of which were surgery related disciplines. Groups improved communication and advice given on patient management. Confidentiality was mentioned in 19 papers and consent in five. Data security was partially addressed in 11 papers with little understanding of how data are transmitted and stored. Telemedicine services outside of departmental groups were reported in seven papers and covered emergency triage in maxillofacial, plastic, neuro and general surgery, and cardiology and telestroke. WhatsApp is seen to be a simple, cheap and effective means of communication within the clinical health sector and its use will grow. Users have paid little attention to confidentiality, consent and data security. Guidelines for using WhatsApp for telemedicine are required including downloading. WhatsApp messages to computer for integration with electronic medical records.

  16. Priority setting in clinical nursing practice: literature review.

    Science.gov (United States)

    Hendry, Charles; Walker, Anne

    2004-08-01

    Time is a valuable resource. When nurses experience demands on their services which exceed their available time, then 'rationing' must occur. In clinical practice such rationing requires practitioners to set priorities for care. The aim of this paper is establish what is currently known about priority setting in nursing, including how nurses set priorities and what factors influence this. CINAHL, Medline, ASSIA, and PsychLit databases for the years 1982-2002 were searched, using the terms (clinical decision-making or problem-solving or planning) and (setting priorities or prioriti*). The publications found were used in a selective, descriptive review. Priority setting is an important skill in nursing, and a skill deficit can have serious consequences for patients. Recent studies have suggested that it is a difficult skill for newly qualified nurses to acquire and may not be given sufficient attention in nurse education. Priority setting can be defined as the ordering of nursing problems using notions of urgency and/or importance, in order to establish a preferential order for nursing actions. A number of factors that may impact on priority setting have been identified in the literature. These include: the expertise of the nurse; the patient's condition; the availability of resources; ward organization; philosophies and models of care; the nurse-patient relationship; and the cognitive strategy used by the nurse to set priorities. However, very little empirical work has been conducted in this area. Further study of priority setting in a range of clinical practice settings is necessary. This could inform both practice and education, promote better use of limited resources and maximize patient outcomes.

  17. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

    Science.gov (United States)

    Goh, Elaine Suk-Ying; Li, Chumei; Horsburgh, Sheri; Kasai, Yumi; Kolomietz, Elena; Morel, Chantal France

    2010-02-01

    Roberts syndrome (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, cardiac and renal abnormalities. The syndrome is caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) (Entrez 609353) gene, which is located at 8p21.1, and encodes a protein essential in establishing sister chromatid cohesion during S phase. SC phocomelia (SC) (OMIM #269000), has less severe symmetric limb reduction, flexion contractures of various joints, minor facial anomalies, growth retardation and occasionally, mental retardation. These two syndromes can be considered part of a spectrum, with RBS at the most severe range in which severely affected infants may be stillborn or die in the post-natal period, while individuals with SC phocomelia represent the milder end of the spectrum and typically survive to adulthood. In both presentations, karyotype investigations characteristically reveal premature centromere separation (PCS), otherwise known as heterochromatin repulsion or puffing. There is little literature about the follow-up of adults with the spectrum of RBS/SC phocomelia or their recommended management. We report on an adult presentation of RBS/SC phocomelia spectrum disorder with a history of major cardiac malformation in childhood, normal limbs on physical examination, mild facial anomalies, mild learning difficulties, and PCS. Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow-up guidelines are presented. Copyright 2010 Wiley-Liss, Inc.

  18. Number needed to treat (NNT) in clinical literature: an appraisal.

    Science.gov (United States)

    Mendes, Diogo; Alves, Carlos; Batel-Marques, Francisco

    2017-06-01

    The number needed to treat (NNT) is an absolute effect measure that has been used to assess beneficial and harmful effects of medical interventions. Several methods can be used to calculate NNTs, and they should be applied depending on the different study characteristics, such as the design and type of variable used to measure outcomes. Whether or not the most recommended methods have been applied to calculate NNTs in studies published in the medical literature is yet to be determined. The aim of this study is to assess whether the methods used to calculate NNTs in studies published in medical journals are in line with basic methodological recommendations. The top 25 high-impact factor journals in the "General and/or Internal Medicine" category were screened to identify studies assessing pharmacological interventions and reporting NNTs. Studies were categorized according to their design and the type of variables. NNTs were assessed for completeness (baseline risk, time horizon, and confidence intervals [CIs]). The methods used for calculating NNTs in selected studies were compared to basic methodological recommendations published in the literature. Data were analyzed using descriptive statistics. The search returned 138 citations, of which 51 were selected. Most were meta-analyses (n = 23, 45.1%), followed by clinical trials (n = 17, 33.3%), cohort (n = 9, 17.6%), and case-control studies (n = 2, 3.9%). Binary variables were more common (n = 41, 80.4%) than time-to-event (n = 10, 19.6%) outcomes. Twenty-six studies (51.0%) reported only NNT to benefit (NNTB), 14 (27.5%) reported both NNTB and NNT to harm (NNTH), and 11 (21.6%) reported only NNTH. Baseline risk (n = 37, 72.5%), time horizon (n = 38, 74.5%), and CI (n = 32, 62.7%) for NNTs were not always reported. Basic methodological recommendations to calculate NNTs were not followed in 15 studies (29.4%). The proportion of studies applying non-recommended methods was

  19. Aggression in children with autism spectrum disorders and a clinic-referred comparison group

    Science.gov (United States)

    Farmer, Cristan; Butter, Eric; Mazurek, Micah O.; Cowan, Charles; Lainhart, Janet; Cook, Edwin H.; DeWitt, Mary Beth; Aman, Michael

    2015-01-01

    A gap exists in the literature regarding aggression in autism spectrum disorders (ASD) and how this behavior compares to other groups. In this multisite study, the Children’s Scale for Hostility and Aggression: Reactive/Proactive (C-SHARP) and the Aggression subscale of the Child Behavior Checklist (CBCL) were rated for 414 children with ASD (Autistic Disorder, 69%; PDD-NOS, 24%; Asperger’s Disorder, 7%) and 243 clinic-referred children without ASD, aged 1-21 years (mean age about 7). Participants were not selected for aggressive behavior. Relative to the comparison group, children with ASD were reported to have less aggression and were more likely to be rated as reactive rather than proactive. Among all subjects, sex was not associated with aggression; higher IQ/adaptive behavior and older age were associated with more sophisticated types of aggression while lower scores on IQ, adaptive behavior, and communication measures were associated with more physical aggression. The interaction between demographic variables and diagnosis was significant only for age: younger but not older children with ASD showed less aggression than clinic-referred controls. PMID:24497627

  20. Clinical Supervision in Undergraduate Nursing Students: A Review of the Literature

    Science.gov (United States)

    Franklin, Natasha

    2013-01-01

    The concept of clinical supervision to facilitate the clinical education environment in undergraduate nursing students is well discussed within the literature. Despite the many models of clinical supervision described within the literature there is a lack of clear guidance and direction which clinical supervision model best suits the clinical…

  1. Use of magnetic therapy in clinical neurology: literature review

    Energy Technology Data Exchange (ETDEWEB)

    Shogam, I.I.; Lenchin, V.N.; Baranovskaya, A.V.

    1985-01-01

    A literature survey is presented on the current status of magnetic therapy in clinical neurology. It is generally accepted that the high susceptibility of the nervous system to the magnetic field is due to a large extent to the automatic component. Furthermore, it has also become clear that glial cells are far more susceptible to magnetic fields than are neurons. Controversy prevails on the question of whether the therapeutic effectiveness of magnetic fields involves a direct mechanism of action or an indirect one via reflex mechanisms. Nevertheless, effectiveness of magnetic therapy has been demonstrated and generally accepted in cases dealing with lagophthalmia, ptosis, various neuralgia, radiculitis, neuritis, vascular and infectious pathology of the brain, and so forth. Basically, the effectiveness of such therapy is strongly dependent on the location and the nature of the pathologic process, as well as on the functional status of the autonomic nervous system. In view of this, effective magnetic therapy is highly dependent on individualization of a given approach. 111 References.

  2. Peripheral vestibular vertigo: clinical spectrum and review of ...

    African Journals Online (AJOL)

    Benign paroxysmal positional vertigo 33 (25%), Labyrinthitis 23(17%), menieres disease 19(14%) and cervical spondylosis 14(10.5%) were the leading clinical diagnoses. Trauma accounted for 35% of the aetiological factors while17%was idiopathic. Clinical examination remains the prime technique in accurate diagnosis ...

  3. A multisite study of the clinical diagnosis of different autism spectrum disorders.

    Science.gov (United States)

    Lord, Catherine; Petkova, Eva; Hus, Vanessa; Gan, Weijin; Lu, Feihan; Martin, Donna M; Ousley, Opal; Guy, Lisa; Bernier, Raphael; Gerdts, Jennifer; Algermissen, Molly; Whitaker, Agnes; Sutcliffe, James S; Warren, Zachary; Klin, Ami; Saulnier, Celine; Hanson, Ellen; Hundley, Rachel; Piggot, Judith; Fombonne, Eric; Steiman, Mandy; Miles, Judith; Kanne, Stephen M; Goin-Kochel, Robin P; Peters, Sarika U; Cook, Edwin H; Guter, Stephen; Tjernagel, Jennifer; Green-Snyder, Lee Anne; Bishop, Somer; Esler, Amy; Gotham, Katherine; Luyster, Rhiannon; Miller, Fiona; Olson, Jennifer; Richler, Jennifer; Risi, Susan

    2012-03-01

    Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder-not otherwise specified, and Asperger syndrome) have been used as the diagnostic gold standard, even when information from standardized instruments is available. To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites. Multisite observational study collecting clinical phenotype data (diagnostic, developmental, and demographic) for genetic research. Classification trees were used to identify characteristics that predicted diagnosis across and within sites. Participants were recruited through 12 university-based autism service providers into a genetic study of autism. A total of 2102 probands (1814 male probands) between 4 and 18 years of age (mean [SD] age, 8.93 [3.5] years) who met autism spectrum criteria on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule and who had a clinical diagnosis of an autism spectrum disorder. Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures. Although distributions of scores on standardized measures were similar across sites, significant site differences emerged in best-estimate clinical diagnoses of specific autism spectrum disorders. Relationships between clinical diagnoses and standardized scores, particularly verbal IQ, language level, and core diagnostic features, varied across sites in weighting of information and cutoffs. Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors

  4. New aspects in the clinical spectrum of neonatal lupus

    DEFF Research Database (Denmark)

    Laurinaviciene, Rasa; Christesen, Henrik Thybo; Bygum, Anette

    2012-01-01

    Neonatal lupus erythematosus (NLE) is a rare, passively acquired autoimmune disease, caused by maternal autoantibodies. Characteristic clinical features of NLE are transient rash and congenital heart block (CHB), but also hematological abnormalities and hepatobiliary dysfunction may occur...

  5. Aggression in Children with Autism Spectrum Disorders and a Clinic-Referred Comparison Group

    Science.gov (United States)

    Farmer, Cristan; Butter, Eric; Mazurek, Micah O.; Cowan, Charles; Lainhart, Janet; Cook, Edwin H.; DeWitt, Mary Beth; Aman, Michael

    2015-01-01

    A gap exists in the literature regarding aggression in autism spectrum disorders and how this behavior compares to other groups. In this multisite study, the "Children's Scale for Hostility and Aggression: Reactive/Proactive" and the Aggression subscale of the "Child Behavior Checklist" were rated for 414 children with autism…

  6. Teaching Children with Autism Spectrum Disorder to Recognize and Express Emotion: A Review of the Literature

    Science.gov (United States)

    Daou, Nidal; Hady, Ryma T.; Poulson, Claire L.

    2016-01-01

    The developmental literature has focused extensively on deficits in the expression and recognition of emotion in people with autism, and has reported on the use of interactive tools to address the problems of affect. The behavioral literature has offered interventions to teach children with autism to engage in appropriate affective displays, and…

  7. A Clinical Translation of the Article Titled "Evidence for the Implementation of the Early Start Denver Model for Young Children With Autism Spectrum Disorder".

    Science.gov (United States)

    Shannon, Robin Adair

    2015-01-01

    The purpose of this article is to offer a clinical translation of a literature review titled "Evidence for the Implementation of the Early Start Denver Model for Young Children With Autism Spectrum Disorder" by Ryberg (2015). The literature review was conducted to determine the strength of the research evidence regarding the effectiveness of the Early Start Denver Model in improving cognitive, language, and behavioral functioning of children with autism spectrum disorder. In an effort to narrow the gap between evidence and practice, this clinical translation will discuss the components of the literature review in terms of its rationale for and objectives, methods, results, and implications for evidence-based nursing practice. © The Author(s) 2015.

  8. The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

    Science.gov (United States)

    Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

    2016-01-01

    We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams–Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation. PMID:27617154

  9. Animal-Assisted Intervention for Autism Spectrum Disorder: A Systematic Literature Review

    Science.gov (United States)

    O'Haire, Marguerite E.

    2013-01-01

    The inclusion of animals in therapeutic activities, known as animal-assisted intervention (AAI), has been suggested as a treatment practice for autism spectrum disorder (ASD). This paper presents a systematic review of the empirical research on AAI for ASD. Fourteen studies published in peer-reviewed journals qualified for inclusion. The…

  10. Spectrum of MRI findings in clinical athletic pubalgia.

    Science.gov (United States)

    Zajick, Donald C; Zoga, Adam C; Omar, Imran M; Meyers, William C

    2008-03-01

    Athletic pubalgia is a frequently encountered syndrome for clinicians who treat active patients participating in a wide variety of athletic endeavors worldwide. Pathologies associated with this clinical scenario span anatomically from the pubic symphysis to the hip and include a myriad of poorly understood and incompletely described musculoskeletal entities, many of which are centered about the pubic symphysis and its tendinous attachments. In this article, we discuss the relevant anatomy and pathophysiology for the most frequently encountered of these disorders, using magnetic resonance (MR) images as a guide. We describe an MR imaging protocol tailored to clinical athletic pubalgia. We then review reproducible MRI patterns of pathology about the pubic symphysis, the rectus abdominis/adductor aponeurosis and the inguinal ring, as well as a group of clinically confounding entities remote from the symphysis but visible by MRI.

  11. [Process and key points of clinical literature evaluation of post-marketing traditional Chinese medicine].

    Science.gov (United States)

    Liu, Huan; Xie, Yanming

    2011-10-01

    The clinical literature evaluation of the post-marketing traditional Chinese medicine is a comprehensive evaluation by the comprehensive gain, analysis of the drug, literature of drug efficacy, safety, economy, based on the literature evidence and is part of the evaluation of evidence-based medicine. The literature evaluation in the post-marketing Chinese medicine clinical evaluation is in the foundation and the key position. Through the literature evaluation, it can fully grasp the information, grasp listed drug variety of traditional Chinese medicines second development orientation, make clear further clinical indications, perfect the medicines, etc. This paper discusses the main steps and emphasis of the clinical literature evaluation. Emphasizing security literature evaluation should attach importance to the security of a comprehensive collection drug information. Safety assessment should notice traditional Chinese medicine validity evaluation in improving syndrome, improveing the living quality of patients with special advantage. The economics literature evaluation should pay attention to reliability, sensitivity and practicability of the conclusion.

  12. Childhood Pompe disease: clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    Capelle, C.I. van; Meijden, J.C. van der; Hout, J.M. van den; Jaeken, J.; Baethmann, M.; Voit, T.; Kroos, M.A.; Derks, T.G.; Rubio-Gozalbo, M.E.; Willemsen, M.A.A.P.; Lachmann, R.H.; Mengel, E.; Michelakakis, H.; Jongste, J.C. de; Reuser, A.J.; Ploeg, A.T. van der

    2016-01-01

    BACKGROUND: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the

  13. Childhood Pompe disease: Clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    C.I. van Capelle (Carine); J.C. van der Meijden (Chris); J.M.P. van den Hout (Johanna); J. Jaeken; M. Baethmann; T. Voit; M.A. Kroos (Marian); T.G.J. Derks (Terry G J); M.E. Rubio-Gozalbo (Estela); M.A. Willemsen (Michél); R. Lachmann (Robin); E. Mengel; H. Michelakakis (Helen); J.C. de Jongste (Johan); A.J.J. Reuser (Arnold); A.T. van der Ploeg (Ans)

    2016-01-01

    textabstractBackground: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in

  14. Childhood Pompe disease : clinical spectrum and genotype in 31 patients

    NARCIS (Netherlands)

    van Capelle, C I; van der Meijden, J C; van den Hout, J M P; Jaeken, J; Baethmann, M; Voit, T; Kroos, M A; Derks, T G J; Rubio-Gozalbo, M E; Willemsen, M A; Lachmann, R H; Mengel, E; Michelakakis, H; de Jongste, J C; Reuser, A J J; van der Ploeg, A T

    2016-01-01

    Background: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the

  15. The clinical and endoscopic spectrum of the watermelon stomach

    NARCIS (Netherlands)

    Gostout, C. J.; Viggiano, T. R.; Ahlquist, D. A.; Wang, K. K.; Larson, M. V.; Balm, R.

    1992-01-01

    The watermelon stomach is an uncommon but treatable cause of chronic gastrointestinal bleeding. We report our experience with the clinical and endoscopic features of 45 consecutive patients treated by endoscopic Nd:YAG laser coagulation. The prototypic patient was a woman (71%) with an average age

  16. Oleander toxicity – the clinical spectrum and mortality predictors: an ...

    African Journals Online (AJOL)

    Arun Kumar Agnihotri

    ABSTRACT: A major cause of mortality in Government Villupuram Medical College &. Hospital is due to toxin exposure. Oleander poisoning ranks second in the list being superseded only by organophosphate poisoning. Data on the incidence, clinical features and the determinants of mortality are scanty. Standardized ...

  17. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

    DEFF Research Database (Denmark)

    Semplicini, Claudio; Vissing, John; Dahlqvist, Julia R

    2015-01-01

    OBJECTIVE: To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease. METHODS: All LGMD2E patients followed in participating centers were included. A specific clinical protoc...

  18. Examining the Clinical Correlates of Autism Spectrum Disorder in Youth by Ascertainment Source

    Science.gov (United States)

    Joshi, Gagan; Faraone, Stephen V.; Wozniak, Janet; Petty, Carter; Fried, Ronna; Galdo, Maribel; Furtak, Stephannie L.; McDermott, Katie; Epstien, Cecily; Walker, Rosemary; Caron, Ashley; Feinberg, Leah; Biederman, Joseph

    2014-01-01

    To examine whether presentation of autism spectrum disorder (ASD) and associated patterns of psychiatric comorbidity and dysfunction vary by referral source. ASD youth referred to a specialized ambulatory program for ASD (N = 143) were compared to ASD youth referred to a general child psychiatry clinic (N = 217). More ASD clinic youth met criteria…

  19. Increased Clinical and Neurocognitive Impairment in Children with Autism Spectrum Disorders and Comorbid Bipolar Disorder

    Science.gov (United States)

    Weissman, Adam S.; Bates, Marsha E.

    2010-01-01

    Bipolar (BD) symptomatology is prevalent in children with autism spectrum disorders (ASD) and may lead to increased impairment. The current study compared clinical and neurocognitive impairment in children (7-13 years) diagnosed with ASD (n=55), BD (n=34), ASD + BD (n=23), and a non-clinical control group (n=27). Relative to the ASD group, the ASD…

  20. Molecular detection of TEM broad spectrum β-lactamase in clinical ...

    African Journals Online (AJOL)

    Resistance to β-lactam antibiotics, along with clinical isolates, frequently results to production of β- lactamase enzymes. In recent years, the production of extended spectrum β-lactamases (ESBLs) among clinical isolates, especially Escherichia coli has greatly increased. On the other hand, β lactamase genes have several ...

  1. Clinical and anatomical heterogeneity in autistic spectrum disorder: a structural MRI study.

    LENUS (Irish Health Repository)

    Toal, F

    2010-07-01

    Autistic spectrum disorder (ASD) is characterized by stereotyped\\/obsessional behaviours and social and communicative deficits. However, there is significant variability in the clinical phenotype; for example, people with autism exhibit language delay whereas those with Asperger syndrome do not. It remains unclear whether localized differences in brain anatomy are associated with variation in the clinical phenotype.

  2. Micronodular thymic neoplasms: case series and literature review with emphasis on the spectrum of differentiation.

    Science.gov (United States)

    Mneimneh, Wadad S; Gökmen-Polar, Yesim; Kesler, Kenneth A; Loehrer, Patrick J; Badve, Sunil

    2015-11-01

    We report nine cases of micronodular thymoma with lymphoid B-cell hyperplasia and one case of micronodular thymic carcinoma with lymphoid hyperplasia from our institution. For a better understanding of these rare tumors, clinical records, and histological features of these cases were reviewed, with detailed review of additional 64 literature cases of micronodular thymic neoplasms. The joint analysis identified 64 cases of micronodular thymoma with lymphoid B-cell hyperplasia and 9 cases of micronodular thymic carcinoma with lymphoid hyperplasia. Both groups revealed slight male predilection, with male:female ratio of 1.3:1 and 5:4, and occurred at >40 years of age, with a mean of 64 (41-83) and 62 (42-78) years, respectively. Myasthenia gravis was noted in 3/64 (5%) and 1/9 (11%) patients, respectively. Other systemic, disimmune, or hematologic disorders were noted in 6/64 (9%) and 1/9 (11%) patients, respectively. Components of conventional thymoma were reported in 11/64 (17%) micronodular thymomas with lymphoid B-cell hyperplasia, with transitional morphology between the two components in most of them. Cellular morphology was predominantly spindle in micronodular thymoma with lymphoid B-cell hyperplasia when specified (30/43), and epithelioid in micronodular thymic carcinoma with lymphoid hyperplasia (6/9), and cytological atypia was more encountered in the latter. Dedifferentiation/transformation from micronodular thymoma with lymphoid B-cell hyperplasia to micronodular thymic carcinoma with lymphoid hyperplasia seems to occur in a small subset of cases. Three cases of micronodular thymomas with lymphoid B-cell hyperplasia were described with co-existent low-grade B-cell lymphomas. Follow-up data were available for 30 micronodular thymomas with lymphoid B-cell hyperplasia and 6 micronodular thymic carcinomas with lymphoid hyperplasia, with a mean of 47 (0.2-180) months and 23 (3-39) months, respectively. Patients were alive without disease, except for five

  3. GLUT-1 DEFICIENCY: FROM PATHOPHYSILOGY AND GENETICS TO ABROAD CLINICAL SPECTRUM

    Directory of Open Access Journals (Sweden)

    Arsov Todor

    2016-07-01

    Full Text Available The classical GLUT-1 deficiency syndrome (GLUT-1 DS, De Vivo disease was described over 2 decades ago as a metabolic encephalopathy characterized by developmental delay, secondary microcephaly paroxysmal neurological symptoms (epilepsy and movement disorders. The biochemical parameters of this disease, used in diagnosis, are low levels of glucose in the cerebrospinal fluid, normal level of glucose in the blood and consequent low ratio of cerebrospinal fluid vs. blood glucose levels (<40-45%. So far, more than 200 cases of the classical GLUT-1 DS have been described in the literature. Genetic research demonstrated that this disease is caused by mutations in SLC2A1 gene coding for GLUT-1, a transporter of glucose across the blood brain barrier. Over the last few years the clinical spectrum of GLUT-1 deficiencywas expanded to include other rare diseases such as paroxysmal exertional dyskinesia and early-onset absence epilepsy, but also some more common diseases such as idiopathic generalised epilepsy (1-2%. GLUT-1 deficiency is an important pathophysiological basis of these diseases as early diagnosis (aided by DNA mutation testing and treatment (ketogenic diet could lead to improved disease outcomes.

  4. Tattoo complaints and complications: diagnosis and clinical spectrum.

    Science.gov (United States)

    Serup, Jørgen; Carlsen, Katrina Hutton; Sepehri, Mitra

    2015-01-01

    Tattoos cause a broad range of clinical problems. Mild complaints, especially sensitivity to sun, are very common and seen in 1/5 of cases. Medical complications are dominated by allergy to tattoo pigment haptens or haptens generated in the skin, especially in red tattoos but also in blue and green tattoos. Symptoms are major and can be compared to cumbersome pruritic skin diseases. Tattoo allergies and local reactions show distinct clinical manifestations, with plaque-like, excessive hyperkeratotic, ulcero-necrotic, lymphopathic, neuro-sensory, and scar patterns. Reactions in black tattoos are papulo-nodular and non-allergic and associated with the agglomeration of nanoparticulate carbon black. Tattoo complications include effects on general health conditions and complications in the psycho-social sphere. Tattoo infections with bacteria, especially staphylococci, which may be resistant to multiple antibiotics, may be prominent and may progress into life-threatening sepsis. Contaminated tattoo ink is an open-window risk vector that can lead to epidemic tattoo infections across national borders due to contaminated bulk production. Hepatitis B and C and human immunodeficiency virus (HIV) transferred by tattooing remain a significant risk needing active prevention. It is noteworthy that cancer arising in tattoos, in regional lymph nodes, and in other organs due to tattoo pigments and ingredients has not been detected or noted as a significant clinical problem hitherto, despite millions of people being tattooed for decennia. Clinical observation and epidemiology disagree with register data, which indicate an increased risk of cancer due to chemical carcinogens present in some inks. Registers rely on chronic dosaging of cell lines and animals. However, tattooing in humans is essentially a single-dose exposure, which might explain the observed discrepancy. © 2015 S. Karger AG, Basel.

  5. [The Spectrum of Neuromyotonia: Clinics, Therapy and Outcome].

    Science.gov (United States)

    Wenninger, S; Schoser, B

    2015-08-01

    Neuromyotonia (NM), Isaacs-Zschoke-Mertens syndrome or continuous muscle fiber activity (CMFA), is a rare condition associated with VGKC-antibodies. Clinically, fasciculations, myokymias, muscle stiffness and a myotonic appearance of movements after contraction are typical findings. In addition, CNS-symptoms vary from moderate fatigue, poor concentration and autonomic symptoms to severe encephalopathy in Morvan's syndrome. In electromyography, spontaneous irregular discharges can be found frequently with typical di-, tri- or multiplet single motor unit discharges. In up to 60 %, serum antibodies against VGKC-complexes can be detected. Patients with neuromyotonia were evaluated for clinical symptoms, response to treatment and outcome over a five-year period of follow-up. For evaluation, we used video recording of clinical symptoms, electroneurography, electromyography and myosonography as well as immunological tests (VGKC-complex antibody including CASPR2 and IGL1). Furthermore, cerebral fluid and screening for neoplasias were done. Patients with evidence for neuropathy, myopathy or motor neuron disease, even if diagnosed in the follow-up, were excluded. In 3 of 5 patients, neuromyotonia was diagnosed by electromyography and positive VGKC antibodies. In two patients, diagnosis was based on typical clinical symptoms and electromyographical changes. Anticonvulsants (carbamazepine) for symptomatic treatment were moderately effective in four patients; treatment with i. v. immunoglobulins was highly successful in one patient with high positive VGKC-complex antibody titers. In one patient with low-titer VGKC antibodies, neither anticonvulsants nor i. v. immunoglobulins nor prednisone was a successful treatment. Neuromyotonia is a rare, treatable condition. However, due to the high variability of symptoms, response to therapy and outcome, neuromyotonia treatment needs to be highly individualized. © Georg Thieme Verlag KG Stuttgart · New York.

  6. Clinical spectrum of thrombocytopenia in adult population of karachi

    International Nuclear Information System (INIS)

    Rehman, Z.; Alam, M.; Mubarik, A.; Ahmed, M.

    2001-01-01

    Objective: To determine the etiology and clinical features of patients presenting with bleeding due to thrombocytopenia. Design: A cross sectional study. Place and duration of study:.Th study was carries out at PNS Shifa Hospital, Karachi during the period form 1994-1996. Subjects and Methods: A total of 500 consecutive patients of 15 years or more age with a platelet count of less than 150 x 10/sup 9/L were included in the study. Complete blood count including platelets count was carried out by using electronic counter model T-890 for each patient. Very low platelet count was also confirmed by manual method. Results: among 500 patients of thrombocytopenia the commonest cause was malaria consisting of 216 (43.2%) cases. Megaloblastic anemia was the leading hematological cause, comprising of 31 (6.2%) patients. Other miscellaneous causes like dengue hemorrhagic fever, idiopathic thrombocytopenic purpura aplastic anemia and leukemias were responsible for the rest of cases of thrombocytopenia. Epistaxis followed by gum bleeding was the leading clinical manifestation. Conclusion: We conclude that malaria and viral infections are common causes of transient ghtombocytopenia. Epistaxis and gum bleeding are the leading clinical manifestations in various disease processes in adult population. (author)

  7. Dysautonomia in Autism Spectrum Disorder: Case Reports of a Family with Review of the Literature

    Directory of Open Access Journals (Sweden)

    Derrick Lonsdale

    2011-01-01

    Full Text Available Case histories of a mother and her two children are reported. The mother was a recovered alcoholic. She and her two children, both of whom had symptoms that are typical of autistic spectrum disorder, had dysautonomia. All had intermittently abnormal erythrocyte transketolase studies indicating abnormal thiamine pyrophosphate homeostasis. Both children had unusual concentrations of urinary arsenic. All had symptomatic improvement with diet restriction and supplementary vitamin therapy but quickly relapsed after ingestion of sugar, milk, or wheat. The stress of a heavy metal burden, superimposed on existing genetic or epigenetic risk factors, may be important in the etiology of autism spectrum disorder when in combination. Dysautonomia has been associated with several diseases, including autism, without a common etiology. It is hypothesized that oxidative stress results in loss of cellular energy and causes retardation of hard wiring of the brain in infancy, affecting limbic system control of the autonomic nervous system.

  8. Dysautonomia in Autism Spectrum Disorder: Case Reports of a Family with Review of the Literature

    OpenAIRE

    Lonsdale, Derrick; Shamberger, Raymond J.; Obrenovich, Mark E.

    2011-01-01

    Case histories of a mother and her two children are reported. The mother was a recovered alcoholic. She and her two children, both of whom had symptoms that are typical of autistic spectrum disorder, had dysautonomia. All had intermittently abnormal erythrocyte transketolase studies indicating abnormal thiamine pyrophosphate homeostasis. Both children had unusual concentrations of urinary arsenic. All had symptomatic improvement with diet restriction and supplementary vitamin therapy but qui...

  9. Clinical spectrum of hypopituitarism in India: A single center experience

    Science.gov (United States)

    Gundgurthi, Abhay; Garg, M. K.; Bhardwaj, Reena; Brar, Karninder S.; Kharb, Sandeep; Pandit, Aditi

    2012-01-01

    Objectives: There is paucity of information regarding clinical profile of hypopituitarism from India. We report the clinical profile of hypopituitarism from a tertiary center in North India. Materials and Methods: This study was carried out in patients attending our endocrine center between January 2010 and December 2011. All new patients were studied prospectively and those registered before January 2010 retrospectively. Relevant clinical, hormonal, and imaging data were collected. Dynamic testing for pituitary functions was carried out as necessary. Hormonal deficiencies were defined as per prevailing recommendations. Results: This study included 113 subjects. The mean age was 38.6 ± 17.8 years (range, 4 – 76 years). There were 78 (69%) males and 35 females (31%). There were 22 subjects aged ≤18 years (childhood and adolescence) and 91 adults (>18 years). Visual disturbances were the most common presenting complaint (33%), though headache was the most common symptom (81%). Fifteen percent presented with pituitary apoplexy. Tumors comprised of 84% of cases. Hypogonadism (97%) was the most common abnormality seen followed by hypothyroidism (83.2%), hypoadrenalism (79.6%), growth hormone deficiency (88.1% of the 42 patients tested), and diabetes insipidus (13.3%). Panhypopituitarism was seen in 104 (92%) patients. There were no cases of hypopituitarism secondary to traumatic brain injury, subarachnoid hemorrhage, central nervous system infections, or cranial irradiation to extrasellar tumors. Conclusion: The most common cause of hypopituitarism at tertiary care center is pituitary tumors and the commonest presenting complaint is visual symptoms. Panhypopituitarism is present in 92% cases. PMID:23087868

  10. Clinical spectrum of hypopituitarism in India: A single center experience

    Directory of Open Access Journals (Sweden)

    Abhay Gundgurthi

    2012-01-01

    Full Text Available Objectives: There is paucity of information regarding clinical profile of hypopituitarism from India. We report the clinical profile of hypopituitarism from a tertiary center in North India. Materials and Methods: This study was carried out in patients attending our endocrine center between January 2010 and December 2011. All new patients were studied prospectively and those registered before January 2010 retrospectively. Relevant clinical, hormonal, and imaging data were collected. Dynamic testing for pituitary functions was carried out as necessary. Hormonal deficiencies were defined as per prevailing recommendations. Results: This study included 113 subjects. The mean age was 38.6 ± 17.8 years (range, 4 - 76 years. There were 78 (69% males and 35 females (31%. There were 22 subjects aged ≤18 years (childhood and adolescence and 91 adults (>18 years. Visual disturbances were the most common presenting complaint (33%, though headache was the most common symptom (81%. Fifteen percent presented with pituitary apoplexy. Tumors comprised of 84% of cases. Hypogonadism (97% was the most common abnormality seen followed by hypothyroidism (83.2%, hypoadrenalism (79.6%, growth hormone deficiency (88.1% of the 42 patients tested, and diabetes insipidus (13.3%. Panhypopituitarism was seen in 104 (92% patients. There were no cases of hypopituitarism secondary to traumatic brain injury, subarachnoid hemorrhage, central nervous system infections, or cranial irradiation to extrasellar tumors. Conclusion: The most common cause of hypopituitarism at tertiary care center is pituitary tumors and the commonest presenting complaint is visual symptoms. Panhypopituitarism is present in 92% cases.

  11. Clinical spectrum of paediatric HIV in Nnewi, Nigeria.

    Science.gov (United States)

    Ugochukwu, E F

    2006-01-01

    HIV/AIDS is increasingly becoming a predominant cause of childhood morbidity and mortality in this part of the world. A descriptive, prospective study was carried out at the Nnamdi Azikiwe University Teaching Hospital, Nnewi, Southeast Nigeria, to ascertain the clinical features and probable modes of transmission of HIV infection in Children. Out of 128 HIV -infected children, 53.1% were males and 46.9% females, giving a male: female ratio 1.1:1. They were aged from 3 months to 16 years, with a mean of 4.78 (+/- 3.97) years. Those in the 1-5 year age bracket made up 47.7%. The presumed route of infection was mother-to-child in 79.7% and blood transfusion in 16.4%. Majority (82.0%) presented with WHO clinical stage 3 disease and 55.7% were severely immunosuppressed. The most frequent clinical features were recurrent/persistent fever, persistent cough,weight loss/failure to thrive and generalised lymphadenopathy. There was co-infection with tuberculosis in 15.6% of patients. Eighteen patients (14.0%) were lost to follow up. Six children (4.7%) died during the period under review. They all presented in WHO stage 3 and 4. A hundred percent of the dead children had severe weight loss, 83.3% had generalized lymphadenopathy and recurrent or persistent fever respectively. Fifty percent presented with diarrhea and oral thrush. There was no gender difference in mortality. Mortality was highest among infants. The high rate of vertical transmission of HIV reinforces the need for effective PMTCT interventions in reducing the incidence of HIV in children. A high index of suspicion and awareness of modes of presentation of HIV infection in children is needed for early diagnosis of those infected with HIV.

  12. Primary hyperoxaluria: spectrum of clinical and imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Strauss, Sara B.; Levin, Terry L. [Children' s Hospital of Montefiore Medical Center, Division of Pediatric Radiology, Department of Radiology, Bronx, NY (United States); Waltuch, Temima; Kaskel, Frederick [Children' s Hospital at Montefiore Medical Center, Division of Pediatric Nephrology, Bronx, NY (United States); Bivin, William [Allegheny General Hospital, Department of Pathology, Pittsburgh, PA (United States)

    2017-01-15

    Primary hyperoxaluria is a rare autosomal recessive inborn error of metabolism with three known subtypes. In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. The resultant elevation in serum and urinary oxalate that characterizes primary hyperoxaluria leads to calcium oxalate crystal deposition in multiple organ systems (oxalosis). We review the genetics, pathogenesis, variable clinical presentation and course of this disease as well as its treatment. Emphasis is placed on the characteristic imaging findings before and after definitive treatment with combined liver and renal transplantation. (orig.)

  13. [Clinical spectrum of patients with spontaneous retroperitoneal hematomas].

    Science.gov (United States)

    Sánchez-González, Amada; Riancho-Zarrabeitia, Leyre; Salmón-González, Zaida; Riancho, José Antonio; Valero, Carmen

    2015-10-05

    Spontaneous retroperitoneal hematoma (SRH) is a potentially fatal clinical entity requiring immediate recognition and intervention. The clinical records of 18-year-old and older patients admitted to the University Hospital Marqués de Valdecilla from 2003 to 2013 were reviewed. "Spontaneous" was defined as unrelated to trauma, invasive procedures or bleeding due to aortic aneurysm rupture. Thirty-four patients with SRH (44% were on anticoagulant drugs). One-third of cases had chronic renal insufficiency. Abdominal pain was the most common symptom both in anticoagulated and non-anticoagulated patients (80% in anticoagulated and 89% in non-anticoagulated patients). About one half of the patients developed shock. A CT scan was the most commonly performed diagnostic test, followed by abdominal ultrasound. Most cases were managed conservatively (80%). More than half of the patients (66%) restarted anticoagulation therapy after the acute event with a mean delay of 19 days (range 2-90 days). None of them suffered a new bleeding episode. Restarting the anticoagulation treatment after hematoma resolution seems to be a safe practice. There is an increasing frequency of SRH in non-anticoagulated patients. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  14. Clinical spectrum and diagnostic value of antibodies against the potassium channel-related protein complex☆

    Science.gov (United States)

    Montojo, M.T.; Petit-Pedrol, M.; Graus, F.; Dalmau, J.

    2016-01-01

    Introduction Antibodies against a protein complex that includes voltage-gated potassium channels (VGKC) have been reported in patients with limbic encephalitis, peripheral nerve hyperexcitability, Morvan's syndrome, and a large variety of neurological syndromes. Review summary In this article, a review is presented of the syndromes associated with antibodies against VGKC-related proteins and the main antigens of this protein complex, the proteins LGI1 (leucine rich glioma inactivated protein 1) and Caspr2 (contactin-associated protein-like 2). The conceptual problems and clinical implications of the description of antibodies against VGKC-related proteins other than LGI1 and Caspr2 are also discussed. Although initial studies indicated the occurrence of antibodies against VGKC, recent investigations have shown that the main antigens are a neuronal secreted protein known as LGI1 which modulates synaptic excitability, and a protein called Caspr2 located on the cell surface and processes of neurons of different brain regions, and at the juxtaparanodal region of myelinated axons. While antibodies against LGI1 preferentially associate with classical limbic encephalitis, antibodies against Caspr2 associate with a wider spectrum of symptoms, including Morvan's syndrome, peripheral nerve hyperexcitability or neuromyotonia, and limbic or more extensive encephalitis. In addition there are reports of patients with antibodies against VGKC-related proteins that are different from LGI1 or Caspr2. In these cases, the identity and location of the antigens are unknown, the syndrome association is not specific, and the response to treatment uncertain. Conclusions The discovery of antigens such as LGI1 and Caspr2 has resulted in a clinical and molecular definition of the broad group of diseases previously attributed to antibodies against VGKC. Considering the literature that describes the presence of antibodies against VGKC other than LGI1 and Caspr2 proteins, we propose a practical

  15. Clinical spectrum of impulse control disorders in Parkinson's disease.

    Science.gov (United States)

    Weintraub, Daniel; David, Anthony S; Evans, Andrew H; Grant, Jon E; Stacy, Mark

    2015-02-01

    Impulse control disorders (ICDs), including compulsive gambling, buying, sexual behavior, and eating, are a serious and increasingly recognized psychiatric complication in Parkinson's disease (PD). Other impulsive-compulsive behaviors (ICBs) have been described in PD, including punding (stereotyped, repetitive, purposeless behaviors) and dopamine dysregulation syndrome (DDS; compulsive PD medication overuse). ICDs have been most closely related to the use of dopamine agonists (DAs), perhaps more so at higher doses; in contrast, DDS is primarily associated with shorter-acting, higher-potency dopaminergic medications, such as apomorphine and levodopa. Possible risk factors for ICDs include male sex, younger age and younger age at PD onset, a pre-PD history of ICDs, and a personal or family history of substance abuse, bipolar disorder, or gambling problems. Given the paucity of treatment options and potentially serious consequences, it is critical for PD patients to be monitored closely for development of ICDs as part of routine clinical care. © 2014 International Parkinson and Movement Disorder Society.

  16. Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

    Science.gov (United States)

    Bağci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

    2010-01-01

    Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. 2010 S. Karger AG, Basel.

  17. Childhood acute bacterial meningitis: clinical spectrum, bacteriological profile and outcome

    International Nuclear Information System (INIS)

    Bari, A.; Zeeshan, S.; Rathore, A. W.

    2016-01-01

    Objective: To determine the disease pattern, etiological agents and outcome of childhood acute bacterial meningitis. Study Design: A descriptive study. Place and Duration of Study: Department of Paediatric Medicine, The Children's Hospital, Lahore, from January to December 2012. Methodology: A total of 199 children between the ages of 1 month and 5 years, admitted with the diagnosis of meningitis on the basis of clinical findings and positive cerebrospinal fluid (CSF), were included. In all patients, complete blood count (CBC), CSF culture sensitivity, and blood culture sensitivity were performed. Data was analysed using SPSS version 20. Results: Out of 199 children, 127 (63.8%) were males with M:F ratio of 1.7:1. Mean age was 11.33 ± 12 months. Maximum numbers of children were < 1 year of age, 136 (68.3%). Only 90 (45.2%) children were fully vaccinated according to Expanded Program of Immunisation (EPI) schedule. Presentations with refusal to take feed (p=0.008) and with impaired conscious state were independent predictors of death (p=0.002). Complications were noted in 34 (17%) and were significantly associated with severe malnutrition (p=0.006) and altered conscious level at presentation (p < 0.001). The common pathogens identified on CSF culture were coagulase negative staphylococci (CoNS) in 11 (5.5%) and streptococcus pneumoniae in 5 (2.5%). Overall mortality was 10.1%. The commonest pathogen isolated from children who died was streptococcus pneumoniae (p=0.039). Conclusion: Acute bacterial meningitis mostly affected children under the age of 1 year. CSF culture revealed both Gram-positive and Gram-negative bacteria. The most common pathogen in children who died was streptococcus pneumoniae. (author)

  18. Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

    Science.gov (United States)

    Seys, Elsa; Andrini, Olga; Keck, Mathilde; Mansour-Hendili, Lamisse; Courand, Pierre-Yves; Simian, Christophe; Deschenes, Georges; Kwon, Theresa; Bertholet-Thomas, Aurélia; Bobrie, Guillaume; Borde, Jean Sébastien; Bourdat-Michel, Guylhène; Decramer, Stéphane; Cailliez, Mathilde; Krug, Pauline; Cozette, Paul; Delbet, Jean Daniel; Dubourg, Laurence; Chaveau, Dominique; Fila, Marc; Jourde-Chiche, Noémie; Knebelmann, Bertrand; Lavocat, Marie-Pierre; Lemoine, Sandrine; Djeddi, Djamal; Llanas, Brigitte; Louillet, Ferielle; Merieau, Elodie; Mileva, Maria; Mota-Vieira, Luisa; Mousson, Christiane; Nobili, François; Novo, Robert; Roussey-Kesler, Gwenaëlle; Vrillon, Isabelle; Walsh, Stephen B; Teulon, Jacques; Blanchard, Anne; Vargas-Poussou, Rosa

    2017-08-01

    Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene ( CLCNKB ), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. We detected 60 mutations, including 27 previously unreported mutations. Among patients, 29.5% had a phenotype of ante/neonatal Bartter syndrome (polyhydramnios or diagnosis in the first month of life), 44.5% had classic Bartter syndrome (diagnosis during childhood, hypercalciuria, and/or polyuria), and 26.0% had Gitelman-like syndrome (fortuitous discovery of hypokalemia with hypomagnesemia and/or hypocalciuria in childhood or adulthood). Nine of the ten mutations expressed in vitro decreased or abolished chloride conductance. Severe (large deletions, frameshift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. Electrolyte supplements and indomethacin were used frequently to induce catch-up growth, with few adverse effects. After a median follow-up of 8 (range, 1-41) years in 77 patients, chronic renal failure was detected in 19 patients (25%): one required hemodialysis and four underwent renal transplant. In summary, we report a genotype/phenotype correlation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age at diagnosis, and CKD was observed in all phenotypes. Copyright © 2017 by the American Society of Nephrology.

  19. Spectrum of acute clinical characteristics of diagnosed concussions in college athletes wearing instrumented helmets: clinical article.

    Science.gov (United States)

    Duhaime, Ann-Christine; Beckwith, Jonathan G; Maerlender, Arthur C; McAllister, Thomas W; Crisco, Joseph J; Duma, Stefan M; Brolinson, P Gunnar; Rowson, Steven; Flashman, Laura A; Chu, Jeffrey J; Greenwald, Richard M

    2012-12-01

    alertness. Most diagnoses were based on self-reported symptoms. The mean peak angular and rotational acceleration values for those cases associated with a specific identified impact were 86.1 ± 42.6g (range 16.5-177.9 g) and 3620 ± 2166 rad/sec( 2 ) (range 183-7589 rad/sec( 2 )), respectively. Approximately two-thirds of diagnosed concussions were associated with a specific contact event. Half of all players diagnosed with concussions had delayed or unclear timing of onset of symptoms. Most had no externally observed findings. Diagnosis was usually based on a range of self-reported symptoms after a variable delay. Accelerations clustered in the higher percentiles for all impact events, but encompassed a wide range. These data highlight the heterogeneity of criteria for concussion diagnosis, and in this sports context, its heavy reliance on self-reported symptoms. More specific and standardized definitions of clinical and objective correlates of a "concussion spectrum" may be needed in future research efforts, as well as in the clinical diagnostic arena.

  20. Clinical heterogeneity among people with high functioning autism spectrum conditions: evidence favouring a continuous severity gradient

    Directory of Open Access Journals (Sweden)

    Woodbury-Smith Marc

    2008-02-01

    Full Text Available Abstract Background Autism Spectrum Conditions (ASCs are characterized by a high degree of clinical heterogeneity, but the extent to which this variation represents a severity gradient versus discrete phenotypes is unclear. This issue has complicated genetic studies seeking to investigate the genetic basis of the high hereditability observed clinically in those with an ASC. The aim of this study was to examine the possible clustering of symptoms associated with ASCs to determine whether the observed distribution of symptom type and severity supported either a severity or a symptom subgroup model to account for the phenotypic variation observed within the ASCs. Methods We investigated the responses of a group of adults with higher functioning ASCs on the fifty clinical features examined in the Autism Spectrum Quotient, a screening questionnaire used in the diagnosis of higher functioning ASCs. In contrast to previous studies we have used this instrument with no a priori assumptions about any underlying factor structure of constituent items. The responses obtained were analyzed using complete linkage hierarchical cluster analysis. For the members of each cluster identified the mean score on each Autism Spectrum Quotient question was calculated. Results Autism Spectrum Quotient responses from a total of 333 individuals between the ages of 16.6 and 78.0 years were entered into the hierarchical cluster analysis. The four cluster solution was the one that generated the largest number of clusters that did not also include very small cluster sizes, defined as a membership comprising 10 individuals or fewer. Examination of these clusters demonstrated that they varied in total Autism Spectrum Quotient but that the profiles across the symptoms comprising the Autism Spectrum Quotient did not differ independently of this severity factor. Conclusion These results are consistent with a unitary spectrum model, suggesting that the clinical heterogeneity observed

  1. Anxiety and Quality of Life: Clinically Anxious Children with and without Autism Spectrum Disorders Compared

    Science.gov (United States)

    van Steensel, Francisca J. A.; Bogels, Susan M.; Dirksen, Carmen D.

    2012-01-01

    Comorbid anxiety disorders are common in children with autism spectrum disorders (ASD). However, studies comparing children with ASD to clinically anxious children are rare. This study investigated anxiety problems and health-related quality of life in children with high-functioning ASD and comorbid anxiety disorders (referred to as the ASD…

  2. Anxiety and quality of life: clinically anxious children with and without autism spectrum disorders compared

    NARCIS (Netherlands)

    van Steensel, F.J.A.; Bögels, S.M.; Dirksen, C.D.

    2012-01-01

    Comorbid anxiety disorders are common in children with autism spectrum disorders (ASD). However, studies comparing children with ASD to clinically anxious children are rare. This study investigated anxiety problems and health-related quality of life in children with high-functioning ASD and comorbid

  3. Gender Differences in Co-Morbid Psychopathology and Clinical Management in Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Tsakanikos, Elias; Underwood, Lisa; Kravariti, Eugenia; Bouras, Nick; McCarthy, Jane

    2011-01-01

    The present study examined rates of co-morbid psychopathology and clinical management/care pathways in adult females (N = 50) and males (N = 100) with autism spectrum disorders (ASD) and intellectual disability (ID) living in community settings. We also compared a sub-sample (N = 60) with ASD to an age-, gender- and ID-matched control group (N =…

  4. Demographic and Clinical Correlates of Autism Symptom Domains and Autism Spectrum Diagnosis

    Science.gov (United States)

    Frazier, Thomas W.; Youngstrom, Eric A.; Embacher, Rebecca; Hardan, Antonio Y.; Constantino, John N.; Law, Paul; Findling, Robert L.; Eng, Charis

    2014-01-01

    Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive…

  5. Competitive Employment for Youth with Autism Spectrum Disorders: Early Results from a Randomized Clinical Trial

    Science.gov (United States)

    Wehman, Paul H.; Schall, Carol M.; McDonough, Jennifer; Kregel, John; Brooke, Valerie; Molinelli, Alissa; Ham, Whitney; Graham, Carolyn W.; Riehle, J. Erin; Collins, Holly T.; Thiss, Weston

    2014-01-01

    For most youth with autism spectrum disorders (ASD), employment upon graduation from high school or college is elusive. Employment rates are reported in many studies to be very low despite many years of intensive special education services. This paper presented the preliminary results of a randomized clinical trial of Project SEARCH plus ASD…

  6. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    DEFF Research Database (Denmark)

    Taylor, Jenny C; Martin, Hilary C; Lise, Stefano

    2015-01-01

    To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the numb...

  7. The Clinical Use of Robots for Individuals with Autism Spectrum Disorders: A Critical Review

    Science.gov (United States)

    Diehl, Joshua J.; Schmitt, Lauren M.; Villano, Michael; Crowell, Charles R.

    2012-01-01

    We examined peer-reviewed studies in order to understand the current status of empirically based evidence on the clinical applications of robots in the diagnosis and treatment of Autism Spectrum Disorders (ASD). Studies are organized into four broad categories: (a) the response of individuals with ASD to robots or robot-like behavior in comparison…

  8. Clinical relevance of metronidazole and peripheral neuropathy: a systematic review of the literature.

    Science.gov (United States)

    Goolsby, Tiffany A; Jakeman, Bernadette; Gaynes, Robert P

    2018-03-01

    The objective of this paper was to review and evaluate the literature on metronidazole-associated peripheral neuropathy and determine the relevance in clinical practice. MEDLINE/PubMed, EBSCO, and Google Scholar were searched through February 2017 using the search terms metronidazole and peripheral neuropathy, or polyneuropathy, or paresthesia, or neurotoxicity. Relevant case reports, retrospective studies, surveys, and review articles were included. Bibliographies of all relevant articles were reviewed for additional sources. Overall, metronidazole is generally well tolerated, but serious neurotoxicity, including peripheral neuropathy, has been reported. The overall incidence of peripheral neuropathy associated with metronidazole is unknown. Our review found 36 case reports (40 unique patients) of metronidazole-associated peripheral neuropathy, with most cases (31/40) receiving a >42 g total (>4 weeks) of therapy. In addition, we reviewed 13 clinical studies and found varying rates of peripheral neuropathy from 0 to 50%. Within these clinical studies, we found a higher incidence of peripheral neuropathy in patients receiving >42 g total (>4 weeks) of metronidazole compared with those patients receiving ≤42 g total (17.9% vs. 1.7%). Nearly all patients had complete resolution of symptoms. In conclusion, peripheral neuropathy is rare in patients who receive ≤42 g total of metronidazole. Patients who receive higher total doses may be at higher risk of peripheral neuropathy, but symptoms resolve after discontinuation of therapy in most patients. Antimicrobial stewardship programs may consider use of antibiotic combinations that include metronidazole over broad-spectrum alternatives when treating with ≤42 g total of the drug (≤4 weeks). Published by Elsevier B.V.

  9. Teaching children with autism spectrum disorder to recognize and express emotion: A review of the literature

    Directory of Open Access Journals (Sweden)

    Nidal Daou

    2016-12-01

    Full Text Available The developmental literature hasfocused extensively on deficits in the expression and recognition of emotion in people with autism, and has reported on the use of interactive tools to address the problems of affect. The behavioral literature has offered interventions to teach children with autism to engage in appropriate affective displays, and for these gains to generalize more readily to novel conditions. Nevertheless, the topic of affect intervention remains under-researched. Although a handful of affect-training behavioral studies have been published in the last two decades, more research is needed to determine precisely what would constitute science-based best-practice methods to facilitate socialization in autism. This review examines the developmental and behavioral approaches in the study of affect in autism; it reviews behavior analytic interventions that have been carried out in this context and evaluates reasons and potential solutions for the underrepresentation of this topic. Finally, this review offers recommendations for social-skills training that could be adopted by educators and practitioners.

  10. Teaching Children with Autism Spectrum Disorder to Recognize and Express Emotion: A Review of the Literature

    Directory of Open Access Journals (Sweden)

    Nidal DAOU

    2016-12-01

    Full Text Available The developmental literature has focused extensively on deficits in the expression and recognition of emotion in people with autism, and has reported on the use of interactive tools to address the problems of affect. The behavioral literature has offered interventions to teach children with autism to engage in appropriate affective displays, and for these gains to generalize more readily to novel conditions. Nevertheless, the topic of affect intervention remains under-researched. Although a handful of affect-training behavioral studies have been published in the last two decades, more research is needed to determine precisely what would constitute science-based best-practice methods to facilitate socialization in autism. This review examines the developmental and behavioral approaches in the study of affect in autism; it reviews behavior analytic interventions that have been carried out in this context and evaluates reasons and potential solutions for the underrepresentation of this topic. Finally, this review offers recommendations for social-skills training that could be adopted by educators and practitioners.

  11. Resilience in family members of persons with autism spectrum disorder: a review of the literature.

    Science.gov (United States)

    Bekhet, Abir K; Johnson, Norah L; Zauszniewski, Jaclene A

    2012-10-01

    Worldwide, caregivers find caring for children with Autism Spectrum Disorder (ASD) challenging. Family members must manage many aspects of care giving, which is demanding, overwhelming, and can affect the family members' mental health. However learning how to be resilient may help family members overcome the stress and burden associated with caring for a person with ASD. A search was completed in Medline, PsycINFO, Proquest, Web of Science, and CINAHL using the key words "autism," "caregivers," "mothers," and "fathers," alone and in combination. Inclusion criteria were English language articles reporting studies with samples of children with ASD, as distinct from children with other intellectual or developmental disabilities. Fifty-eight articles that met these inclusion criteria were summarized and, from those, the authors selected 22 articles that included indicators of resilience. This integrative review highlights current research on resilience in adult family members of persons with ASD. Indicators of resilience, risk factors, protective factors, and outcomes of resilience were identified. The review indicates that parents of children with ASD who possess indicators of resilience are better able to manage the adversity associated with caring for children with ASD. Thus, enhancing resilience among family members of persons with autism may be beneficial to both the caregivers and care recipients.

  12. Prenatal and perinatal risk factors and the clinical implications on autism spectrum disorder.

    Science.gov (United States)

    Chien, Yi-Ling; Chou, Miao-Chun; Chou, Wen-Jiun; Wu, Yu-Yu; Tsai, Wen-Che; Chiu, Yen-Nan; Gau, Susan Shur-Fen

    2018-06-01

    Prenatal and perinatal factors may increase the risk of autism spectrum disorder. However, little is known about whether unaffected siblings of probands with autism spectrum disorder also share the phenomenon and whether the prenatal/perinatal factors are related to the clinical severity of autistic symptoms. We compared the frequency of prenatal and perinatal factors among 323 probands with autism spectrum disorder (mean age ± standard deviation, 10.7 ± 3.5 years; males, 91.0%), 257 unaffected siblings (11.7 ± 4.5; 42.8%), and 1504 typically developing controls (8.9 ± 1.6 years; 53.1%); and investigated their effects on the severity of autistic symptoms. We found that probands with autism spectrum disorder and their unaffected siblings had more prenatal/perinatal events than typically developing controls with higher numbers of prenatal/perinatal factors in probands than in unaffected siblings. The prenatal/perinatal events were associated with greater stereotyped behaviors, social-emotional problems, socio-communication deficits, and overall severity. We also found that six prenatal/perinatal factors (i.e. preeclampsia, polyhydramnios, oligoamnios, placenta previa, umbilical cord knot, and gestational diabetes) were associated with the severity of autistic symptoms, particularly stereotyped behaviors and socio-communication deficits. Our findings suggest that prenatal and perinatal factors may potentially moderate the clinical expression of autism spectrum disorder. The underlying mechanism warrants further research.

  13. Esophageal achalasia in children — clinical case and literature review

    Directory of Open Access Journals (Sweden)

    Ivantsiv-Griga I.S.

    2016-05-01

    Full Text Available Introduction. Esophageal achalasia is a primary disorder of the motor function characterized by the increased pressure in the lower esophageal sphincter, impairment of its reflex relaxation and inhibited peristalsis of the esophagus which, in turn, leads to functional obstruction of the distal section of the esophagus. Goal. Improvement of early diagnosis and treatment outcomes of esophageal achalasia in children. Materials and methods. Clinical observation, laboratory and instrumental examination of a 10 year old child with esophageal achalasia. Results. The results of clinical data and laboratory and instrumental examination methods were analized and the diagnosis of esophageal achalasia in a 10 year old male was confirmed. Conclusions. The described clinical case provided an opportunity for a thorough analysis of the clinical aspects of diagnosis and treatment of the given pathology. Esophageal achalasia is a rare pathology in children and has an atypical clinical manifestation; therefore, primary care physicians should study this disorder in detail and make a great effort to diagnose it in a timely manner.

  14. Data-driven analysis of biomedical literature suggests broad-spectrum benefits of culinary herbs and spices.

    Science.gov (United States)

    Rakhi, N K; Tuwani, Rudraksh; Mukherjee, Jagriti; Bagler, Ganesh

    2018-01-01

    Spices and herbs are key dietary ingredients used across cultures worldwide. Beyond their use as flavoring and coloring agents, the popularity of these aromatic plant products in culinary preparations has been attributed to their antimicrobial properties. Last few decades have witnessed an exponential growth of biomedical literature investigating the impact of spices and herbs on health, presenting an opportunity to mine for patterns from empirical evidence. Systematic investigation of empirical evidence to enumerate the health consequences of culinary herbs and spices can provide valuable insights into their therapeutic utility. We implemented a text mining protocol to assess the health impact of spices by assimilating, both, their positive and negative effects. We conclude that spices show broad-spectrum benevolence across a range of disease categories in contrast to negative effects that are comparatively narrow-spectrum. We also implement a strategy for disease-specific culinary recommendations of spices based on their therapeutic tradeoff against adverse effects. Further by integrating spice-phytochemical-disease associations, we identify bioactive spice phytochemicals potentially involved in their therapeutic effects. Our study provides a systems perspective on health effects of culinary spices and herbs with applications for dietary recommendations as well as identification of phytochemicals potentially involved in underlying molecular mechanisms.

  15. Data-driven analysis of biomedical literature suggests broad-spectrum benefits of culinary herbs and spices

    Science.gov (United States)

    Mukherjee, Jagriti

    2018-01-01

    Spices and herbs are key dietary ingredients used across cultures worldwide. Beyond their use as flavoring and coloring agents, the popularity of these aromatic plant products in culinary preparations has been attributed to their antimicrobial properties. Last few decades have witnessed an exponential growth of biomedical literature investigating the impact of spices and herbs on health, presenting an opportunity to mine for patterns from empirical evidence. Systematic investigation of empirical evidence to enumerate the health consequences of culinary herbs and spices can provide valuable insights into their therapeutic utility. We implemented a text mining protocol to assess the health impact of spices by assimilating, both, their positive and negative effects. We conclude that spices show broad-spectrum benevolence across a range of disease categories in contrast to negative effects that are comparatively narrow-spectrum. We also implement a strategy for disease-specific culinary recommendations of spices based on their therapeutic tradeoff against adverse effects. Further by integrating spice-phytochemical-disease associations, we identify bioactive spice phytochemicals potentially involved in their therapeutic effects. Our study provides a systems perspective on health effects of culinary spices and herbs with applications for dietary recommendations as well as identification of phytochemicals potentially involved in underlying molecular mechanisms. PMID:29813110

  16. [Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view].

    Science.gov (United States)

    Szczaluba, Krzysztof

    2014-01-01

    Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.

  17. Insights into the pathogenesis and clinicopathological spectrum of oral vegetable granuloma. Case series with literature review

    Directory of Open Access Journals (Sweden)

    Shankargouda Patil

    2017-10-01

    Full Text Available Oral vegetable granuloma represents an inflammatory lesion of foreign body origin resulting from the implantation of vegetable matter. Controversy regarding its pathogenesis is reflected by the various terminologies used to describe the lesion. Its diverse clinical presentations are due to variations in the antigenic potential of the vegetable material and the host response. As the diagnosis is solely histopathological, it is critical to differentiate vegetable granuloma from other oral granulomatous lesions like tuberculosis, sarcoidosis and Wegner’s granulomatosis. Here, we report six cases with the varied clinicopathological presentation of hyaline ring granulomas in association with different pathological lesions.

  18. [Literature survey on botanical origin and clinical application of traditional Tibetan medicine "Shengdeng"].

    Science.gov (United States)

    Chen, De-Dao; Meng, Xian-Hua; Zhang, Ying-Shan; Chen, Gen-Ping; Huang, Yu-Lan

    2012-10-01

    "Shengdeng" is its Tibetan transliteration referring to many medicines. Tibetan doctors and pharmacists in different areas use different drugs in formulation and clinical application, which are easily confused. In order to grasp the formula and clinical application accurately, we conduct a literature survey on history and current state of botanical origin and clinical application of "Shengdeng", making clear the application of various herbs named "Shengdeng" and providing reference to all Tibetan researchers and clinical workers in formulation and clinical application.

  19. Isotonic saline nasal irrigation in clinical practice: a literature review

    Directory of Open Access Journals (Sweden)

    Sabrina Costa Lima

    Full Text Available Abstract Introduction: Nasal instillation of saline solution has been used as part of the treatment of patients with upper respiratory tract diseases. Despite its use for a number of years, factors such as the amount of saline solution to be used, degree of salinity, method and frequency of application have yet to be fully explained. Objective: Review the reported outcomes of saline nasal irrigation in adults with allergic rhinitis, acute or chronic sinusitis and after functional endoscopic sinus surgery (FESS, and provide evidence to assist physiotherapists in decision making in clinical practice. Methods: A search was conducted of the Pubmed and Cochrane Library databases between 2007 and 2014. A combination of the following descriptors was used as a search strategy: nasal irrigation, nasal lavage, rhinitis, sinusitis, saline, saline solution. Results: Eight clinical trials were included, analyzed according to participant diagnosis. Conclusion: The evidence found was heterogeneous, but contributed to elucidating uncertainties regarding the use of nasal lavage in the clinical practice of physical therapy, such as the protocols used.

  20. Evaluating clinical ethics support in mental healthcare: a systematic literature review.

    NARCIS (Netherlands)

    Hem, M.H.; Pedersen, R.; Norvoll, R.; Molewijk, A.C.

    2015-01-01

    A systematic literature review on evaluation of clinical ethics support services in mental healthcare is presented and discussed. The focus was on (a) forms of clinical ethics support services, (b) evaluation of clinical ethics support services, (c) contexts and participants and (d) results. Five

  1. Clinical spectrum and diagnostic value of antibodies against the potassium channel related protein complex.

    Science.gov (United States)

    Montojo, M T; Petit-Pedrol, M; Graus, F; Dalmau, J

    2015-06-01

    Antibodies against a protein complex that includes voltage-gated potassium channels (VGKC) have been reported in patients with limbic encephalitis, peripheral nerve hyperexcitability, Morvan's syndrome, and a large variety of neurological syndromes. In this article, a review is presented of the syndromes associated with antibodies against VGKC-related proteins and the main antigens of this protein complex, the proteins LGI1 (leucine rich glioma inactivated protein 1) and Caspr2 (contactin-associated protein-like 2). The conceptual problems and clinical implications of the description of antibodies against VGKC-related proteins other than LGI1 and Caspr2 are also discussed. Although initial studies indicated the occurrence of antibodies against VGKC, recent investigations have shown that the main antigens are a neuronal secreted protein known as LGI1 which modulates synaptic excitability, and a protein called Caspr2 located on the cell surface and processes of neurons of different brain regions, and at the juxtaparanodal region of myelinated axons. While antibodies against LGI1 preferentially associate with classical limbic encephalitis, antibodies against Caspr2 associate with a wider spectrum of symptoms, including Morvan's syndrome, peripheral nerve hyperexcitability or neuromyotonia, and limbic or more extensive encephalitis. In addition there are reports of patients with antibodies against VGKC-related proteins that are different from LGI1 or Caspr2. In these cases, the identity and location of the antigens are unknown, the syndrome association is not specific, and the response to treatment uncertain. The discovery of antigens such as LGI1 and Caspr2 has resulted in a clinical and molecular definition of the broad group of diseases previously attributed to antibodies against VGKC. Considering the literature that describes the presence of antibodies against VGKC other than LGI1 and Caspr2 proteins, we propose a practical algorithm for the diagnosis and treatment

  2. Disseminated cysticercosis: clinical spectrum, Toll-like receptor-4 gene polymorphisms and role of albendazole

    Science.gov (United States)

    Qavi, Abdul; Garg, Ravindra Kumar; Malhotra, Hardeep Singh; Jain, Amita; Kumar, Neeraj; Malhotra, Kiran Preet; Srivastava, Pradeep Kumar; Verma, Rajesh; Sharma, Praveen Kumar

    2016-01-01

    Abstract In this study, we describe clinical and imaging spectrum, and the natural course of patients with disseminated cysticercosis. How albendazole affects the course of disease has also been evaluated. We assessed the Toll-like receptor-4 gene polymorphisms, to know the reason for the apparently higher prevalence of disseminated cysticercosis in India. Sixty consecutive patients with disseminated cysticercosis were enrolled. Sixty age-and-sex-matched healthy controls were also enrolled for the purpose of genetic study. Twenty patients, who gave consent, were treated with albendazole along with corticosteroids. Forty patients did not give consent for antiparasitic therapy. Assessment for Toll-like receptor-4 gene polymorphisms (Asp299Gly and Thr399Ile genes) was done. Patients were followed for 6 months. We also performed a literature search of cases published in English language using PubMed electronic database and analyzed 56 cases thus available. There was an increased risk (6.63 fold and 4.61 fold) of disseminated cysticercosis in the presence of Asp299Gly and Thr399Ile polymorphisms in Toll-like receptor-4, respectively. The allelic frequency of Gly (11% vs. 3%, P = 0.024, odds ratio [OR] = 3.52) and Ile alleles (11% vs. 2%, P = 0.009, OR = 4.738) in disseminated cysticercosis was high. Albendazole resulted in complete disappearance of all cerebral lesions in 35% (7/20) patients and reduction in lesion load in remaining 65% (13/20) patients. No significant change in number of cysticercal lesion was noted in patients who did not receive albendazole. No major adverse reaction following antiparasitic treatment was noted. Three deaths were recorded in patients who did not receive antiparasitic treatment. Of the 56 cases reported in PubMed, 33 patients received antiparasitic treatment with follow-up data available for 31 patients. Most (24) of these patients received albendazole. A significant clinical and/or imaging improvements, on follow up, were observed in

  3. International nursing students and what impacts their clinical learning: literature review.

    Science.gov (United States)

    Edgecombe, Kay; Jennings, Michele; Bowden, Margaret

    2013-02-01

    This paper reviews the sparse literature about international nursing students' clinical learning experiences, and also draws on the literature about international higher education students' learning experiences across disciplines as well as nursing students' experiences when undertaking international clinical placements. The paper aims to identify factors that may impact international nursing students' clinical learning with a view to initiating further research into these students' attributes and how to work with these to enhance the students' clinical learning. Issues commonly cited as affecting international students are socialisation, communication, culture, relationships, and unmet expectations and aspirations. International student attributes tend to be included by implication rather than as part of the literature's focus. The review concludes that recognition and valuing of international nursing students' attributes in academic and clinical contexts are needed to facilitate effective strategies to support their clinical practice in new environments. Copyright © 2012. Published by Elsevier Ltd.

  4. Toward an Interdisciplinary Understanding of Sensory Dysfunction in Autism Spectrum Disorder: An Integration of the Neural and Symptom Literatures.

    Science.gov (United States)

    Schauder, Kimberly B; Bennetto, Loisa

    2016-01-01

    Sensory processing differences have long been associated with autism spectrum disorder (ASD), and they have recently been added to the diagnostic criteria for the disorder. The focus on sensory processing in ASD research has increased substantially in the last decade. This research has been approached from two different perspectives: the first focuses on characterizing the symptoms that manifest in response to real world sensory stimulation, and the second focuses on the neural pathways and mechanisms underlying sensory processing. The purpose of this paper is to integrate the empirical literature on sensory processing in ASD from the last decade, including both studies characterizing sensory symptoms and those that investigate neural response to sensory stimuli. We begin with a discussion of definitions to clarify some of the inconsistencies in terminology that currently exist in the field. Next, the sensory symptoms literature is reviewed with a particular focus on developmental considerations and the relationship of sensory symptoms to other core features of the disorder. Then, the neuroscience literature is reviewed with a focus on methodological approaches and specific sensory modalities. Currently, these sensory symptoms and neuroscience perspectives are largely developing independently from each other leading to multiple, but separate, theories and methods, thus creating a multidisciplinary approach to sensory processing in ASD. In order to progress our understanding of sensory processing in ASD, it is now critical to integrate these two research perspectives and move toward an interdisciplinary approach. This will inevitably aid in a better understanding of the underlying biological basis of these symptoms and help realize the translational value through its application to early identification and treatment. The review ends with specific recommendations for future research to help bridge these two research perspectives in order to advance our understanding

  5. Clinical Characteristics of Autism Spectrum Disorder in Israel: Impact of Ethnic and Social Diversities

    OpenAIRE

    Mahajnah, Muhammad; Sharkia, Rajech; Shalabe, Haitham; Terkel-Dawer, Ruth; Akawi, Ashraf; Zelnik, Nathanel

    2015-01-01

    Despite the increased global prevalence and recognition of autistic spectrum disorder (ASD), it is still scarcely reported in the Arab world. Though Israel has a higher prevalence of ASD, a previous national survey of patients diagnosed between 1972 and 2004, demonstrated that 98% of them were of Jewish ancestry. The disproportional low number of Arab children with ASD in Israel is unclear but may reflect lower awareness and cultural bias. In the present study we collected clinical and demogr...

  6. Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis

    OpenAIRE

    Frazier, Thomas W; Youngstrom, Eric A; Embacher, Rebecca; Hardan, Antonio Y; Constantino, John N; Law, Paul; Findling, Robert L; Eng, Charis

    2013-01-01

    Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive Autism Network registry. Social communication and interaction and restricted/repetitive behavior symptoms were obtained using caregiver-reports on the So...

  7. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    OpenAIRE

    Taylor, Jenny C; Martin, Hilary C; Lise, Stefano; Broxholme, John; Cazier, Jean-Baptiste; Rimmer, Andy; Kanapin, Alexander; Lunter, Gerton; Fiddy, Simon; Allan, Chris; Aricescu, A. Radu; Attar, Moustafa; Babbs, Christian; Becq, Jennifer; Beeson, David

    2015-01-01

    To assess factors influencing the success of whole genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases across a broad spectrum of disorders in whom prior screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies for variant calling, filtering, annotation and prioritisation. We found that jointly calling variants across samples, filtering against both local and e...

  8. Association of Schizophrenia Spectrum and Autism Spectrum Disorder (ASD) Symptoms in Children with ASD and Clinic Controls

    Science.gov (United States)

    Gadow, Kenneth D.

    2013-01-01

    Objective: This study examines relations between the severity of specific symptoms of schizophrenia spectrum disorder (SSD) and severity of the three defining symptom domains of autism spectrum disorder (ASD) in children with ASD (N = 147) and child psychiatry outpatient referrals (Controls; N = 339). Method: Participants were subdivided into four…

  9. Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports

    Directory of Open Access Journals (Sweden)

    Harini Sarva

    2016-03-01

    Full Text Available Background: “Classic” stiff person syndrome (SPS features stiffness, anti-glutamic acid decarboxylase (anti-GAD antibodies, and other findings. Anti-GAD antibodies are also detected in some neurological syndromes (such as ataxia in which stiffness is inconsistently present. Patients with otherwise “classic” SPS may either lack anti-GAD antibodies or be seropositive for others. Hence, SPS cases appear to fall within a clinical spectrum that includes conditions such as progressive encephalomyelitis with rigidity and myoclonus (PERM, which exhibits brainstem and autonomic features. We have compiled herein SPS-spectrum cases reported since 2010, and have segregated them on the basis of likely disease mechanism (autoimmune, paraneoplastic, or cryptogenic for analysis. Methods: The phrases “stiff person syndrome”, “PERM”, “anti-GAD antibody syndrome”, and “glycine receptor antibody neurological disorders” were searched for in PubMed in January 2015. The results were narrowed to 72 citations after excluding non-English and duplicate reports. Clinical descriptions, laboratory data, management, and outcomes were categorized, tabulated, and analyzed. Results: Sixty-nine autoimmune, 19 paraneoplastic, and 13 cryptogenic SPS-spectrum cases were identified. SPS was the predominant diagnosis among the groups. Roughly two-thirds of autoimmune and paraneoplastic cases were female. Anti-GAD antibodies were most frequently identified, followed by anti-amphiphysin among paraneoplastic cases and by anti-glycine receptor antibodies among autoimmune cases. Benzodiazepines were the most commonly used medications. Prognosis seemed best for cryptogenic cases; malignancy worsened that of paraneoplastic cases. Discussion: Grouping SPS-spectrum cases by pathophysiology provided insights into work-up, treatment, and prognosis. Ample phenotypic and serologic variations are present within the categories. Ruling out malignancy and autoimmunity is

  10. [Molecular Biology on the Mechanisms of Autism Spectrum Disorder for Clinical Psychiatrists].

    Science.gov (United States)

    Makinodan, Manabu

    2015-01-01

    While, in general, a certain number of clinical psychiatrists might not be familiar with molecular biology, the mechanisms of mental illnesses have been uncovered by molecular biology for decades. Among mental illnesses, even biological psychiatrists and neuroscientists have paid less attention to the biological treatment of autism spectrum disorder (ASD) than Alzheimer's disease and schizophrenia since ASD has been regarded as a developmental disorder that was seemingly untreatable. However, multifaceted methods of molecular biology have revealed the mechanisms that would lead to the medication of ASD. In this article, how molecular biology dissects the pathobiology of ASD is described in order to announce the possibilities of biological treatment for clinical psychiatrists.

  11. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

    DEFF Research Database (Denmark)

    Meeths, Marie; Entesarian, Miriam; Al-Herz, Waleed

    2010-01-01

    Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells...... (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell......-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical...

  12. Tourette Syndrome and Chronic Tic Disorders: The Clinical Spectrum Beyond Tics.

    Science.gov (United States)

    Martino, Davide; Ganos, Christos; Pringsheim, Tamara M

    2017-01-01

    The clinical surveillance and active management of Tourette syndrome (TS) and other primary chronic tic disorders cannot be limited to tics, as these patients manifest a spectrum of sensory-, behavioral-, cognitive-, and sleep-related problems that have a major impact on their functioning and quality of life, influencing enormously clinical decision making on a routine basis. The sensory phenomena of primary tic disorders consist of premonitory urges and heightened sensitivity to external somatosensory and interoceptive stimuli. Recent evidence suggests that raised interoceptive awareness may be related to the classical premonitory urges associated with tics. The burden of behavioral comorbidities is very important in determining the degree of disability of patients with primary tic disorders. Only 10%-15% of these patients presents exclusively with a tic disorder. Obsessive-compulsive disorder (OCD) are common in TS, and the clinical distinction between compulsions and complex tics may be difficult in some cases. "Tic-related OCD" represents a phenomenologically characteristic subtype of OCD, also associated with "just right" phenomena. Probably the presence of comorbid attention deficit/hyperactivity disorder is the main determinant of cognitive dysfunction in TS patients and influences heavily also the risk of developing disruptive behaviors. Mood and anxiety disorders, impulse control disorders, rage attacks, "impulsive" tic-like behaviors (e.g., nonobscene socially inappropriate behaviors, and self-injurious behaviors), and autism spectrum disorders complete the wide psychopathological spectrum of primary chronic tic disorders. Moreover, specific sleep abnormalities have been reported in TS patients, although more research is needed on this specific clinical problem. As in other areas of clinical neuroscience, a comprehensive approach to both motor and nonmotor aspects of this group of disorders will help personalizing treatment interventions and, ultimately

  13. Clinical characteristics of late-onset neuromyelitis optica spectrum disorder: A multicenter retrospective study in Korea.

    Science.gov (United States)

    Seok, Jin Myoung; Cho, Hye-Jin; Ahn, Suk-Won; Cho, Eun Bin; Park, Min Su; Joo, In-Soo; Shin, Ha Young; Kim, Sun-Young; Kim, Byung-Jo; Kim, Jong Kuk; Cho, Joong-Yang; Huh, So-Young; Kwon, Ohyun; Lee, Kwang-Ho; Kim, Byoung Joon; Min, Ju-Hong

    2017-11-01

    There are currently few studies regarding late-onset neuromyelitis optica spectrum disorder (LO-NMOSD). We aimed to describe the characteristic features of patients with LO-NMOSD in Korea. Anti-aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder (NMOSD) from nine tertiary hospitals were reviewed retrospectively. The patients were divided into two groups based on age of onset: LO-NMOSD (⩾50 years of age at onset) versus early-onset neuromyelitis optica spectrum disorder (EO-NMOSD) (<50 years of age at onset). Clinical, laboratory, and magnetic resonance imaging (MRI) parameters were investigated. Among a total of 147 patients (125 female; age of onset, 39.4 ± 15.2 years), 45 patients (30.6%) had an age of onset of more than 50 years. Compared to patients with EO-NMOSD, patients with LO-NMOSD had more frequent isolated spinal cord involvement at onset (64.4% vs 37.2%, p = 0.002), less frequent involvement of the optic nerve (40.0% vs 67.7%, p = 0.002), and less frequent brain MRI lesions (31.1% vs 50.0%, p = 0.034). Furthermore, there was a significant positive correlation between age of onset and Expanded Disability Status Scale (EDSS) score at last follow-up ( r = 0.246, p = 0.003). Age of onset could be an important predictor of lesion location and clinical course of patients with NMOSD.

  14. How to Use the ADI-R for Classifying Autism Spectrum Disorders? Psychometric Properties of Criteria from the Literature in 1,204 Dutch Children

    Science.gov (United States)

    de Bildt, Annelies; Oosterling, Iris J.; van Lang, Natasja D. J.; Kuijper, Sanne; Dekker, Vera; Sytema, Sjoerd; Oerlemans, Anoek M.; van Steijn, Daphne J.; Visser, Janne C.; Rommelse, Nanda N.; Minderaa, Ruud B.; van Engeland, Herman; van der Gaag, Rutger-Jan; Buitelaar, Jan K.; de Jonge, Maretha V.

    2013-01-01

    The algorithm of the Autism Diagnostic Interview-Revised provides criteria for autism versus non-autism according to DSM-IV. Criteria for the broader autism spectrum disorders are needed. This study investigated the validity of seven sets of criteria from the literature, in 1,204 Dutch children (aged 3-18 years) with and without mental…

  15. Effects of the Picture Exchange Communication System (PECS) on Maladaptive Behavior in Children with Autism Spectrum Disorders (ASD): A Review of the Literature

    Science.gov (United States)

    Battaglia, Dana; McDonald, Mary E.

    2015-01-01

    This paper provides an overview of the literature investigating the functional relationship between the use of the Picture Exchange Communication System (PECS) and maladaptive behavior (i.e., aggression, tantrums) in individuals with autism spectrum disorders (ASD). Digital searches were conducted to identify single subject design studies…

  16. Re-thinking clinical assessment: What can we learn from the medical literature?

    International Nuclear Information System (INIS)

    Yielder, Jill; Thompson, Andrea; De Bueger, Tracy

    2012-01-01

    This article explores the literature available in the field of medical education on the topic of clinical assessment, in order to suggest different ways of assessing clinical experience that may not have been considered within undergraduate radiography programmes. The medical literature is contrasted with the clinical assessment currently being used in a medical imaging programme in New Zealand, with the aim of offering suggestions that may benefit the assessment of the clinical and professional elements of radiography programmes more generally. The authors conclude that ideally students need to be assessed in the clinical domain by multiple assessors, with varied assessment methods used repeatedly over a period of time and with the provision of frequent and constructive feedback. Various methods of clinical assessment are suggested and it is emphasised that the methods selected need to be valid, reliable and psychometrically supported. This encourages an evidence-based practice approach that is supportive of on-going programme development and change.

  17. A Review of literature on the clinical psychological study on the hearing impaired in Japan

    OpenAIRE

    Fujitomo, Masakazu

    2002-01-01

    The purpose of this paper was to review literatures about past clinical psychological studies on the hearing impaired in japan, in order to get suggestions about subjects on psychological supports and clinical psychological studies for the hearing impaired in Japan. First, in the topic of the history and subjects on the clinical psychological study and psycological supports for the hearing impaired, it was showed that the pathological viewpoint was taken place for the cultural viewpoint in th...

  18. Factors that influence career progression among postdoctoral clinical academics: a scoping review of the literature

    OpenAIRE

    Ranieri, V.; Barratt, H.; Fulop, N.; Rees, G.

    2016-01-01

    Background: The future of academic medicine is uncertain. Concerns regarding the future availability of qualified and willing trainee clinical academics have been raised worldwide. Of significant concern is our failure to retain postdoctoral trainee clinical academics, who are likely to be our next generation of leaders in scientific discovery. / Objectives: To review the literature about factors that may influence postdoctoral career progression in early career clinical academics. / Design: ...

  19. Factors that influence career progression among postdoctoral clinical academics: a scoping review of the literature

    OpenAIRE

    Ranieri, Veronica; Barratt, Helen; Fulop, Naomi; Rees, Geraint

    2016-01-01

    Background The future of academic medicine is uncertain. Concerns regarding the future availability of qualified and willing trainee clinical academics have been raised worldwide. Of significant concern is our failure to retain postdoctoral trainee clinical academics, who are likely to be our next generation of leaders in scientific discovery. Objectives To review the literature about factors that may influence postdoctoral career progression in early career clinical academics. Design This st...

  20. The Prevalence of Internet Addiction among a Japanese Adolescent Psychiatric Clinic Sample with Autism Spectrum Disorder And/or Attention-Deficit Hyperactivity Disorder: A Cross-Sectional Study

    Science.gov (United States)

    So, Ryuhei; Makino, Kazunori; Fujiwara, Masaki; Hirota, Tomoya; Ohcho, Kozo; Ikeda, Shin; Tsubouchi, Shouko; Inagaki, Masatoshi

    2017-01-01

    Extant literature suggests that autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are risk factors for internet addiction (IA). The present cross-sectional study explored the prevalence of IA among 132 adolescents with ASD and/or ADHD in a Japanese psychiatric clinic using Young's Internet Addiction Test. The…

  1. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Science.gov (United States)

    Lise, Stefano; Broxholme, John; Cazier, Jean-Baptiste; Rimmer, Andy; Kanapin, Alexander; Lunter, Gerton; Fiddy, Simon; Allan, Chris; Aricescu, A. Radu; Attar, Moustafa; Babbs, Christian; Becq, Jennifer; Beeson, David; Bento, Celeste; Bignell, Patricia; Blair, Edward; Buckle, Veronica J; Bull, Katherine; Cais, Ondrej; Cario, Holger; Chapel, Helen; Copley, Richard R; Cornall, Richard; Craft, Jude; Dahan, Karin; Davenport, Emma E; Dendrou, Calliope; Devuyst, Olivier; Fenwick, Aimée L; Flint, Jonathan; Fugger, Lars; Gilbert, Rodney D; Goriely, Anne; Green, Angie; Greger, Ingo H.; Grocock, Russell; Gruszczyk, Anja V; Hastings, Robert; Hatton, Edouard; Higgs, Doug; Hill, Adrian; Holmes, Chris; Howard, Malcolm; Hughes, Linda; Humburg, Peter; Johnson, David; Karpe, Fredrik; Kingsbury, Zoya; Kini, Usha; Knight, Julian C; Krohn, Jonathan; Lamble, Sarah; Langman, Craig; Lonie, Lorne; Luck, Joshua; McCarthy, Davis; McGowan, Simon J; McMullin, Mary Frances; Miller, Kerry A; Murray, Lisa; Németh, Andrea H; Nesbit, M Andrew; Nutt, David; Ormondroyd, Elizabeth; Oturai, Annette Bang; Pagnamenta, Alistair; Patel, Smita Y; Percy, Melanie; Petousi, Nayia; Piazza, Paolo; Piret, Sian E; Polanco-Echeverry, Guadalupe; Popitsch, Niko; Powrie, Fiona; Pugh, Chris; Quek, Lynn; Robbins, Peter A; Robson, Kathryn; Russo, Alexandra; Sahgal, Natasha; van Schouwenburg, Pauline A; Schuh, Anna; Silverman, Earl; Simmons, Alison; Sørensen, Per Soelberg; Sweeney, Elizabeth; Taylor, John; Thakker, Rajesh V; Tomlinson, Ian; Trebes, Amy; Twigg, Stephen RF; Uhlig, Holm H; Vyas, Paresh; Vyse, Tim; Wall, Steven A; Watkins, Hugh; Whyte, Michael P; Witty, Lorna; Wright, Ben; Yau, Chris; Buck, David; Humphray, Sean; Ratcliffe, Peter J; Bell, John I; Wilkie, Andrew OM; Bentley, David; Donnelly, Peter; McVean, Gilean

    2015-01-01

    To assess factors influencing the success of whole genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases across a broad spectrum of disorders in whom prior screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies for variant calling, filtering, annotation and prioritisation. We found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy. Overall, we identified disease causing variants in 21% of cases, rising to 34% (23/68) for Mendelian disorders and 57% (8/14) in trios. We also discovered 32 potentially clinically actionable variants in 18 genes unrelated to the referral disorder, though only four were ultimately considered reportable. Our results demonstrate the value of genome sequencing for routine clinical diagnosis, but also highlight many outstanding challenges. PMID:25985138

  2. Efficacy of the ADEC in Identifying Autism Spectrum Disorder in Clinically Referred Toddlers in the US.

    Science.gov (United States)

    Hedley, Darren; Nevill, Rose E; Monroy-Moreno, Yessica; Fields, Natalie; Wilkins, Jonathan; Butter, Eric; Mulick, James A

    2015-08-01

    The Autism Detection in Early Childhood (ADEC) is a brief, play-based screening tool for the assessment of autism spectrum disorder (ASD) in children aged 12-36 months. We examined the psychometric properties of the ADEC in a clinical sample of toddlers (n = 114) referred to a US pediatric hospital for assessment due to concerns of developmental delay or ASD. The ADEC (cutoff = 11) returned good sensitivity (.93-.94) but poorer specificity (.62-.64) for best estimate clinical diagnosis of ASD, and compared favorably with the ADOS-2. Internal consistency was acceptable, α = .80, and inter-rater reliability was high, ICC = .95. Results support the use of the ADEC as a clinical screen for ASD.

  3. Competencies to enable learning-focused clinical supervision: a thematic analysis of the literature.

    Science.gov (United States)

    Pront, Leeanne; Gillham, David; Schuwirth, Lambert W T

    2016-04-01

    Clinical supervision is essential for development of health professional students and widely recognised as a significant factor influencing student learning. Although considered important, delivery is often founded on personal experience or a series of predetermined steps that offer standardised behavioural approaches. Such a view may limit the capacity to promote individualised student learning in complex clinical environments. The objective of this review was to develop a comprehensive understanding of what is considered 'good' clinical supervision, within health student education. The literature provides many perspectives, so collation and interpretation were needed to aid development and understanding for all clinicians required to perform clinical supervision within their daily practice. A comprehensive thematic literature review was carried out, which included a variety of health disciplines and geographical environments. Literature addressing 'good' clinical supervision consists primarily of descriptive qualitative research comprising mostly small studies that repeated descriptions of student and supervisor opinions of 'good' supervision. Synthesis and thematic analysis of the literature resulted in four 'competency' domains perceived to inform delivery of learning-focused or 'good' clinical supervision. Domains understood to promote student learning are co-dependent and include 'to partner', 'to nurture', 'to engage' and 'to facilitate meaning'. Clinical supervision is a complex phenomenon and establishing a comprehensive understanding across health disciplines can influence the future health workforce. The learning-focused clinical supervision domains presented here provide an alternative perspective of clinical supervision of health students. This paper is the first step in establishing a more comprehensive understanding of learning-focused clinical supervision, which may lead to development of competencies for clinical supervision. © 2016 John Wiley

  4. Validity and reliability of the Structured Clinical Interview for Depersonalization–Derealization Spectrum (SCI-DER

    Directory of Open Access Journals (Sweden)

    Marco Mula

    2008-08-01

    Full Text Available Marco Mula, Stefano Pini, Simona Calugi, Matteo Preve, Matteo Masini, Ilaria Giovannini, Ciro Conversano, Paola Rucci, Giovanni B CassanoDepartment of Psychiatry, Neurobiology, Pharmacology and Biotechnologies, University of Pisa, ItalyAbstract: This study evaluates the validity and reliability of a new instrument developed to assess symptoms of depersonalization: the Structured Clinical Interview for the Depersonalization-Derealization Spectrum (SCI-DER. The instrument is based on a spectrum model that emphasizes soft-signs, sub-threshold syndromes as well as clinical and subsyndromal manifestations. Items of the interview include, in addition to DSM-IV criteria for depersonalization, a number of features derived from clinical experience and from a review of phenomenological descriptions. Study participants included 258 consecutive patients with mood and anxiety disorders, 16.7% bipolar I disorder, 18.6% bipolar II disorder, 32.9% major depression, 22.1% panic disorder, 4.7% obsessive compulsive disorder, and 1.5% generalized anxiety disorder; 2.7% patients were also diagnosed with depersonalization disorder. A comparison group of 42 unselected controls was enrolled at the same site. The SCI-DER showed excellent reliability and good concurrent validity with the Dissociative Experiences Scale. It significantly discriminated subjects with any diagnosis of mood and anxiety disorders from controls and subjects with depersonalization disorder from controls. The hypothesized structure of the instrument was confirmed empirically.Keywords: depersonalization, derealization, mood disorders, anxiety disorders

  5. Clinical leadership in pre-registration nursing programmes--an international literature review.

    Science.gov (United States)

    Brown, Angela; Crookes, Patrick; Dewing, Jan

    2015-01-01

    Clinical leadership and the safety, quality and efficiency of patient/client care are inextricably linked in government reports, major inquiries and the professional literature. This review explores the literature on clinical leadership development within pre-registration nursing programmes. The literature retrieved from a scoping review was evaluated to identify what is already published on the development of clinical leadership within pre-registration nursing programmes. Twenty-seven publications matched the inclusion criteria and were included in this review, 14 journal articles, one thesis and 11 chapters within one book were analysed and three themes were identified: clinical leadership; curriculum content and pedagogy. RESULTS AND MAIN OUTCOMES: This review identified a paucity of literature specifically relating to clinical leadership and pre-registration nursing programmes and what is available is inconclusive and unconvincing. Academics, curriculum development leaders and accreditation bodies have a responsibility to influence how nurses are prepared for the profession as such clinical leadership and the new graduate should be considered an area of greater importance.

  6. Therapeutic songwriting in music therapy, Part II: Comparing the literature with practice across diverse clinical populations

    DEFF Research Database (Denmark)

    Baker, Felicity; Wigram, Tony; Stott, Dave

    2009-01-01

      A growing body of literature on therapeutic songwriting with diverse clinical populations indicates that clinicians employ a wide range of approaches. The purpose of this research was to establish trends in the clinical practice of songwriting as implemented across a range of clinical populations....... Responses to a 21-question on-line survey were obtained from 419 professional music therapists practicing in 29 countries which focused on approaches to songwriting within their practice with a single clinical population. Results suggest that in general, the literature provides good representation for what...... is occurring in clinical practice. Generally, songs were composed with individual clients in single sessions, with lyrics created prior to the music. Clinicians had a significant role in creating the music with improvised and pre-determined musical structures being equally employed.  Chi-square or comparable...

  7. Nurses' clinical reasoning practices that support safe medication administration: An integrative review of the literature.

    Science.gov (United States)

    Rohde, Emily; Domm, Elizabeth

    2018-02-01

    To review the current literature about nurses' clinical reasoning practices that support safe medication administration. The literature about medication administration frequently focuses on avoiding medication errors. Nurses' clinical reasoning used during medication administration to maintain medication safety receives less attention in the literature. As healthcare professionals, nurses work closely with patients, assessing and intervening to promote mediation safety prior to, during and after medication administration. They also provide discharge teaching about using medication safely. Nurses' clinical reasoning and practices that support medication safety are often invisible when the focus is medication errors avoidance. An integrative literature review was guided by Whittemore and Knafl's (Journal of Advanced Nursing, 5, 2005 and 546) five-stage review of the 11 articles that met review criteria. This review is modelled after Gaffney et al.'s (Journal of Clinical Nursing, 25, 2016 and 906) integrative review on medical error recovery. Health databases were accessed and systematically searched for research reporting nurses' clinical reasoning practices that supported safe medication administration. The level and quality of evidence of the included research articles were assessed using The Johns Hopkins Nursing Evidence-Based Practice Rating Scale©. Nurses have a central role in safe medication administration, including but not limited to risk awareness about the potential for medication errors. Nurses assess patients and their medication and use knowledge and clinical reasoning to administer medication safely. Results indicated nurses' use of clinical reasoning to maintain safe medication administration was inadequately articulated in 10 of 11 studies reviewed. Nurses are primarily responsible for safe medication administration. Nurses draw from their foundational knowledge of patient conditions and organisational processes and use clinical reasoning that

  8. Beyond PubMed: Searching the "Grey Literature" for Clinical Trial Results.

    Science.gov (United States)

    Citrome, Leslie

    2014-07-01

    Clinical trial results have been traditionally communicated through the publication of scholarly reports and reviews in biomedical journals. However, this dissemination of information can be delayed or incomplete, making it difficult to appraise new treatments, or in the case of missing data, evaluate older interventions. Going beyond the routine search of PubMed, it is possible to discover additional information in the "grey literature." Examples of the grey literature include clinical trial registries, patent databases, company and industrywide repositories, regulatory agency digital archives, abstracts of paper and poster presentations on meeting/congress websites, industry investor reports and press releases, and institutional and personal websites.

  9. [Titanium or steel as osteosynthesis material : Systematic literature search for clinical evidence].

    Science.gov (United States)

    Joeris, Alexander; Goldhahn, Sabine; Rometsch, Elke; Höntzsch, Dankward

    2017-02-01

    The selection of the appropriate implant material, stainless steel or titanium, is still the decision of the surgeon and/or the affiliated institution. Additionally, remarkable international differences can be found between the different markets, which cannot really be explained. A systematic literature search was performed to verify whether there is clinical evidence for the preference of one material over the other. The systematic literature search was performed utilizing the internet databases PubMed, Cochrane and Web of Science. Comparative studies were included that reported on adult patients with osteosynthesis of extremities after trauma using either stainless steel or titanium implants. Information was extracted about infection rates, incidence of clinically relevant allergies, problems with implant removal and other complications. A total of 18 publications were identified to be eligible and 2 referenced articles were added. In summary, there is insufficient clinical evidence that the use of titanium or steel implants has a positive or negative effect on fracture healing, shows different rates of allergies, different rates of infections or mechanical failure. No supporting evidence could be identified for the difficulties with removal of titanium implants reported by surgeons. This systematic literature search did not provide any clinical evidence for material-related differences between titanium or stainless steel implants for fracture fixation. Based on the current clinical evidence both titanium and steel implants can be considered to be of equal value. The reported difficulties with implant removal are not reflected in the published literature.

  10. Clinical spectrum and various forms of thyrotoxcosis in endocrine clinic of Jinnah Postgraduate Medical Centre

    International Nuclear Information System (INIS)

    Ahsan, T.; Banu, Z.; Jabeen, R.; Farooq, M. U.

    2013-01-01

    Objective: To evaluate clinical symptoms, signs and various forms of thyrotoxicosis, and to assess the thyroid function status at the first 6-week follow-up. Methods: The retrospective chart review involved thyrotoxic patients presenting at the Endocrine Clinic of Jinnah Postgraduate Medical Centre, Karachi, between April 2007 and January 2011. All hyperthyroid patients were included with the exception of those with suspected or proven malignancy. The records were maintained on a structured proforma and analysed statistically to work out frequencies and percentages. Results: A total of 507 patients were included. Most common form of thyrotoxicosis was Graves disease, with diffuse toxic goiter affecting 269 (53%) patients; followed by toxic multinodular goiter in 102 (20.1%); solitary toxic nodule in 56 (11%); thyrotoxicosis without goiter in 44 (8.7%); subclinical hyperthyroidism in 22 (4.3.%); thyroiditis in 9 (1.8%); and thyrotoxicosis with solitary cold nodule in 4 (0.9%). The common presenting symptoms and signs were goiter (n=415; 85.7%), with eye signs present in 137 (27.7%) patients and heart failure in 20 (4.8%) patients. Of the 321 patients who attended the first six-week follow-up, 309 (94.4%) had their FT4 levels checked. Out of them, 130(42.1%) had euthyroid levels; 113 (36.6%) had lower but still toxic level; 36 (11.7%) had no change; and 30(9.7%) became hypothyroid. TSH levels at first follow-up remained suppressed in 211 (73%) patients; normal in 47(16.3%); and increased in 31 (10.7%). Conclusions: Graves disease was found to be the most common cause of hyperthyroidism. At first follow-up 10.4% of patients had become hypothyroid. Therefore the starting dose of antithyroid drugs was reduced in the clinic. Thyroid stimulating hormone assay was of little help in adjusting treatment at the 6-week follow-up, as almost all cases of hypothyroidism could have been picked up on FT4 assay alone. (author)

  11. Classifying risk status of non-clinical adolescents using psychometric indicators for psychosis spectrum disorders.

    Science.gov (United States)

    Fonseca-Pedrero, Eduardo; Gooding, Diane C; Ortuño-Sierra, Javier; Pflum, Madeline; Paino, Mercedes; Muñiz, José

    2016-09-30

    This study is an attempt to evaluate extant psychometric indicators using latent profile analysis for classifying community-derived individuals based on a set of clinical, behavioural, and personality traits considered risk markers for psychosis spectrum disorders. The present investigation included four hundred and forty-nine high-school students between the ages of 12 and 19. We used the following to assess risk: the Prodromal Questionnaire-Brief (PQ-B), Oviedo Schizotypy Assessment Questionnaire (ESQUIZO-Q), Anticipatory and Consummatory Interpersonal Pleasure Scale-Adolescent version (ACIPS-A), and General Health Questionnaire 12 (GHQ-12). Using Latent profile analysis six latent classes (LC) were identified: participants in class 1 (LC1) displayed little or no symptoms and accounted for 38.53% of the sample; class 2 (LC2), who accounted for 28.06%, also produced low mean scores across most measures though they expressed somewhat higher levels of subjective distress; LC3, a positive schizotypy group (10.24%); LC4 (13.36%), a psychosis high-risk group; LC5, a high positive and negative schizotypy group (4.45%); and LC6, a very high distress, severe clinical high-risk group, comprised 5.34% of the sample. The current research indicates that different latent classes of early individuals at risk can be empirically defined in adolescent community samples using psychometric indicators for psychosis spectrum disorders. These findings may have implications for early detection and prevention strategies in psychosis spectrum disorders. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  12. Optimizing participation of children with autism spectrum disorder experiencing sensory challenges: a clinical reasoning framework.

    Science.gov (United States)

    Ashburner, Jill K; Rodger, Sylvia A; Ziviani, Jenny M; Hinder, Elizabeth A

    2014-02-01

    Remedial sensory interventions currently lack supportive evidence and can be challenging to implement for families and clinicians. It may be timely to shift the focus to optimizing participation of children with autism spectrum disorders (ASD) through accommodation and self-regulation of their sensory differences. A framework to guide practitioners in selecting strategies is proposed based on clinical reasoning considerations, including (a) research evidence, (b) client- and family-centredness, (c) practice contexts, (d) occupation-centredness, and (e) risks. Information-sharing with families and coaching constitute the basis for intervention. Specific strategies are identified where sensory aversions or seeking behaviours, challenges with modulation of arousal, or sensory-related behaviours interfere with participation. Self-regulatory strategies are advocated. The application of universal design principles to shared environments is also recommended. The implications of this framework for future research, education, and practice are discussed. The clinical utility of the framework now needs to be tested.

  13. Espectro clínico de tuberculosis cutánea Clinic spectrum of cutaneous tuberculosis

    Directory of Open Access Journals (Sweden)

    G Pizzariello

    2008-09-01

    Full Text Available La Tuberculosis (TBC es producida por el Mycobacterium tuberculosis o bacilo de Koch, y se ha observado en las últimas décadas, una reemergencia de casos pulmonares y extrapulmonares. La TBC cutánea es infrecuente, y presenta un amplio espectro clínico dependiendo del interjuego existente entre el agente, el huésped y el ambiente. TBC cutánea, ilustrándola con casos clínicos de pacientes que concurrieron a nuestro servicio.Tuberculosis (TBC is caused by Mycobacterium tuberculosis or Koch's bacillus, and there was a re-emergence of pulmonary and extrapulmonary cases in the last decades. Cutaneous TBC is uncommon, there is a broad clinical spectrum and an interrelationship between the agent, the guest and the environment. A description of each form of cutaneous TBC was made, illustrating it with clinical cases of patients who were attended in our service.

  14. How to write a surgical clinical research protocol: literature review and practical guide.

    Science.gov (United States)

    Rosenthal, Rachel; Schäfer, Juliane; Briel, Matthias; Bucher, Heiner C; Oertli, Daniel; Dell-Kuster, Salome

    2014-02-01

    The study protocol is the core document of every clinical research project. Clinical research in studies involving surgical interventions presents some specific challenges, which need to be accounted for and described in the study protocol. The aim of this review is to provide a practical guide for developing a clinical study protocol for surgical interventions with a focus on methodologic issues. On the basis of an in-depth literature search of methodologic literature and on some cardinal published surgical trials and observational studies, the authors provides a 10-step guide for developing a clinical study protocol in surgery. This practical guide outlines key methodologic issues important when planning an ethically and scientifically sound research project involving surgical interventions, with the ultimate goal of providing high-level evidence relevant for health care decision making in surgery. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Neuromyelitis Optica and Neuromyelitis Optica Spectrum Disorder Patients in Turkish Cohort: Demographic, Clinical, and Laboratory Features.

    Science.gov (United States)

    Altintas, Ayse; Karabudak, Rana; Balci, Belgin P; Terzi, Murat; Soysal, Aysun; Saip, Sabahattin; Tuncer Kurne, Asli; Uygunoglu, Ugur; Nalbantoglu, Mecbure; Gozubatik Celik, Gokcen; Isik, Nihal; Celik, Yahya; Gokcay, Figen; Duman, Taskin; Boz, Cavit; Yucesan, Canan; Mangan, Mehmet Serhat; Celebisoy, Nese; Diker, Sevda; Colpak Isikay, Ilksen; Kansu, Tulay; Siva, Aksel

    2015-10-01

    Neuromyelitis optica (NMO) is an immune-mediated, chronic relapsing, inflammatory disease characterized by severe attacks of optic neuritis and myelitis. To determine the demographic, clinical, and laboratory features; antibody status; and treatment modalities of patients with NMO and neuromyelitis optica spectrum disorders in a Turkish cohort from 11 centers. A total of 182 patients were included in this study. Data on age at disease onset, sex, type of attacks, clinical presentation, analysis of cerebrospinal fluid, serum antiaquaporin-4 antibody status, annual progression index, and medical and family histories were collected. Mean age was 38.43±12.40 years (range, 13 to 75 y), and mean age at disease onset was 31.29±12.40 years (median, 29 y; range, 10 to 74 y). In NMO group, the rate of NMO immunoglobulin (Ig)G positivity was 62.5%. The annual progression index was significantly higher in the longitudinally extending spinal cord lesion. The mean Expanded Disability Status Scale score was higher in the late than early-onset NMO group. Our results revealed a lower rate of NMO IgG positivity, more severe disability in patients with NMO/neuromyelitis optica spectrum disorders presenting with either transverse myelitis or late-onset NMO, and no correlation between disability and NMO IgG status.

  16. Can Bayesian Theories of Autism Spectrum Disorder Help Improve Clinical Practice?

    Science.gov (United States)

    Haker, Helene; Schneebeli, Maya; Stephan, Klaas Enno

    2016-01-01

    Diagnosis and individualized treatment of autism spectrum disorder (ASD) represent major problems for contemporary psychiatry. Tackling these problems requires guidance by a pathophysiological theory. In this paper, we consider recent theories that re-conceptualize ASD from a "Bayesian brain" perspective, which posit that the core abnormality of ASD resides in perceptual aberrations due to a disbalance in the precision of prediction errors (sensory noise) relative to the precision of predictions (prior beliefs). This results in percepts that are dominated by sensory inputs and less guided by top-down regularization and shifts the perceptual focus to detailed aspects of the environment with difficulties in extracting meaning. While these Bayesian theories have inspired ongoing empirical studies, their clinical implications have not yet been carved out. Here, we consider how this Bayesian perspective on disease mechanisms in ASD might contribute to improving clinical care for affected individuals. Specifically, we describe a computational strategy, based on generative (e.g., hierarchical Bayesian) models of behavioral and functional neuroimaging data, for establishing diagnostic tests. These tests could provide estimates of specific cognitive processes underlying ASD and delineate pathophysiological mechanisms with concrete treatment targets. Written with a clinical audience in mind, this article outlines how the development of computational diagnostics applicable to behavioral and functional neuroimaging data in routine clinical practice could not only fundamentally alter our concept of ASD but eventually also transform the clinical management of this disorder.

  17. How well Are Children with Autism Spectrum Disorder Doing Academically at School? An Overview of the Literature

    Science.gov (United States)

    Keen, Deb; Webster, Amanda; Ridley, Greta

    2016-01-01

    The academic achievement of individuals with autism spectrum disorder has received little attention from researchers despite the importance placed on this by schools, families and students with autism spectrum disorder. Investigating factors that lead to increased academic achievement thus would appear to be very important. A review of the…

  18. The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature

    OpenAIRE

    Abbas, Elham; Cox, Devin M.; Smith, Teri; Butler, Merlin G.

    2016-01-01

    We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and deve...

  19. The role of emotion in clinical decision making: an integrative literature review

    OpenAIRE

    Kozlowski, Desirée; Hutchinson, Marie; Hurley, John; Rowley, Joanne; Sutherland, Joanna

    2017-01-01

    Background Traditionally, clinical decision making has been perceived as a purely rational and cognitive process. Recently, a number of authors have linked emotional intelligence (EI) to clinical decision making (CDM) and calls have been made for an increased focus on EI skills for clinicians. The objective of this integrative literature review was to identify and synthesise the empirical evidence for a role of emotion in CDM. Methods A systematic search of the bibliographic databases PubMed,...

  20. Using Recent BCI Literature to Deepen our Understanding of Clinical Neurofeedback: A Short Review.

    Science.gov (United States)

    Jeunet, Camille; Lotte, Fabien; Batail, Jean-Marie; Philip, Pierre; Micoulaud Franchi, Jean-Arthur

    2018-05-15

    In their recent paper, Alkoby et al. (2017) provide the readership with an extensive and very insightful review of the factors influencing NeuroFeedback (NF) performance. These factors are drawn from both the NF literature and the Brain-Computer Interface (BCI) literature. Our short review aims to complement Alkoby et al.'s review by reporting recent additions to the BCI literature. The object of this paper is to highlight this literature and discuss its potential relevance and usefulness to better understand the processes underlying NF and further improve the design of clinical trials assessing NF efficacy. Indeed, we are convinced that while NF and BCI are fundamentally different in many ways, both the BCI and NF communities could reach compelling achievements by building upon one another. By reviewing the recent BCI literature, we identified three types of factors that influence BCI performance: task-specific, cognitive/motivational and technology-acceptance-related factors. Since BCIs and NF share a common goal (i.e., learning to modulate specific neurophysiological patterns), similar cognitive and neurophysiological processes are likely to be involved during the training process. Thus, the literature on BCI training may help (1) to deepen our understanding of neurofeedback training processes and (2) to understand the variables that influence the clinical efficacy of NF. This may help to properly assess and/or control the influence of these variables during randomized controlled trials. Copyright © 2018 IBRO. Published by Elsevier Ltd. All rights reserved.

  1. The mental health of individuals referred for assessment of autism spectrum disorder in adulthood: A clinic report.

    Science.gov (United States)

    Russell, Ailsa J; Murphy, Clodagh M; Wilson, Ellie; Gillan, Nicola; Brown, Cordelia; Robertson, Dene M; Craig, Michael C; Deeley, Quinton; Zinkstok, Janneke; Johnston, Kate; McAlonan, Grainne M; Spain, Deborah; Murphy, Declan Gm

    2016-07-01

    Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric co-morbidity in autism spectrum disorder remain unclear. A retrospective case review of 859 adults referred for assessment of autism spectrum disorder compares International Classification of Diseases, Tenth Revision diagnoses in those that met criteria for autism spectrum disorder (n = 474) with those that did not (n = 385). Rates of psychiatric diagnosis (>57%) were equivalent across both groups and exceeded general population rates for a number of conditions. The prevalence of anxiety disorders, particularly obsessive compulsive disorder, was significantly higher in adults with autism spectrum disorder than adults without autism spectrum disorder. Limitations of this observational clinic study, which may impact generalisability of the findings, include the lack of standardised structured psychiatric diagnostic assessments by assessors blind to autism spectrum disorder diagnosis and inter-rater reliability. The implications of this study highlight the need for careful consideration of mental health needs in all adults referred for autism spectrum disorder diagnosis. © The Author(s) 2015.

  2. The Clinical Aspects of Mirror Therapy in Rehabilitation: A Systematic Review of the Literature

    Science.gov (United States)

    Rothgangel, Andreas Stefan; Braun, Susy M.; Beurskens, Anna J.; Seitz, Rudiger J.; Wade, Derick T.

    2011-01-01

    The objective of this study was to evaluate the clinical aspects of mirror therapy (MT) interventions after stroke, phantom limb pain and complex regional pain syndrome. A systematic literature search of the Cochrane Database of controlled trials, PubMed/MEDLINE, CINAHL, EMBASE, PsycINFO, PEDro, RehabTrials and Rehadat, was made by two…

  3. Assessing the Clinical Skills of Dental Students: A Review of the Literature

    Science.gov (United States)

    Taylor, Carly L.; Grey, Nick; Satterthwaite, Julian D.

    2013-01-01

    Education, from a student perspective, is largely driven by assessment. An effective assessment tool should be both valid and reliable, yet this is often not achieved. The aim of this literature review is to identify and appraise the evidence base for assessment tools used primarily in evaluating clinical skills of dental students. Methods:…

  4. Validation of autism spectrum disorder diagnoses recorded in the Clinical Practice Research Datalink, 1990–2014

    Directory of Open Access Journals (Sweden)

    Hagberg KW

    2017-09-01

    Full Text Available Katrina Wilcox Hagberg, Susan S Jick Boston Collaborative Drug Surveillance Program, Boston University School of Public Health, Lexington, MA, USA Background: Prior studies have reported that the validity of autism spectrum disorder (ASD diagnoses recorded in the Clinical Practice Research Datalink (CPRD was high; however, diagnostic criteria and screening practices have changed since the last study was published in 2004.Objectives: 1 To calculate the positive predictive value (PPV of ASD diagnoses recorded in the CPRD compared to original medical records and 2 to describe characteristics of cases and use of clinical codes that support the ASD diagnosis as recorded in the electronic data by general practitioners over time.Methods: We identified children with a code for ASD (autism spectrum disorder, autism, Asperger’s, or pervasive developmental disorder in the CPRD from 1990 to 2014. We evaluated presence of codes in the electronic medical record indicating the presence of developmental delay, speech delay, behavioral problems, and other supporting clinical codes (e.g., therapy, referrals, etc.. We also evaluated changes in recording of these clinical codes over time. We compared the information present in the electronic medical record to original medical records for a sample of cases and calculated PPVs of ASD diagnoses recorded in the CPRD.Results: We identified 2154 children with a code for ASD. The mean age at diagnosis was 5.8 years, and 84% of cases were male. The majority (78.4% had 1 ASD diagnosis code in their electronic medical record. Approximately half of the cases had a code indicating behavioral problem, developmental delay, or speech delay, and 24.7% had a code indicating specialist referral or visit. After review of original medical records, the PPV of ASD diagnoses recorded in the CPRD was 91.9%. Conclusion: The results of this study suggest that ASD diagnoses recorded in the CPRD are reliable and can be used with confidence

  5. Spontaneous regression of cerebral arteriovenous malformations: clinical and angiographic analysis with review of the literature

    International Nuclear Information System (INIS)

    Lee, S.K.; Vilela, P.; Willinsky, R.; TerBrugge, K.G.

    2002-01-01

    Spontaneous regression of cerebral arteriovenous malformation (AVM) is rare and poorly understood. We reviewed the clinical and angiographic findings in patients who had spontaneous regression of cerebral AVMs to determine whether common features were present. The clinical and angiographic findings of four cases from our series and 29 cases from the literature were retrospectively reviewed. The clinical and angiographic features analyzed were: age at diagnosis, initial presentation, venous drainage pattern, number of draining veins, location of the AVM, number of arterial feeders, clinical events during the interval period to thrombosis, and interval period to spontaneous thrombosis. Common clinical and angiographic features of spontaneous regression of cerebral AVMs are: intracranial hemorrhage as an initial presentation, small AVMs, and a single draining vein. Spontaneous regression of cerebral AVMs can not be predicted by clinical or angiographic features, therefore it should not be considered as an option in cerebral AVM management, despite its proven occurrence. (orig.)

  6. A survey of Korean medicine doctors' clinical practice patterns for autism spectrum disorder: preliminary research for clinical practice guidelines.

    Science.gov (United States)

    Lee, Jihong; Lee, Sun Haeng; Lee, Boram; Yang, In Jun; Chang, Gyu Tae

    2018-03-13

    The aim of this study was to investigate autism spectrum disorder (ASD) clinical practice patterns of Korean medicine doctors (KMDs) through questionnaire survey. Questionnaires on Korean medicine (KM) treatment for ASD were distributed to 255 KMDs on December 5, 2016. The KMDs were psychiatrists, pediatricians, or general practitioners, who treated patients with ASD. The questionnaire covered items on treatment methods, aims of treatment, KM syndrome differentiation, diagnostic tools, and sociodemographic characteristics. Frequency analysis was conducted to describe the participants and their practices. A total 22.4% KMDs (n = 57/255) completed the questionnaires and 54 KMDs (21.2%) matched the inclusion criteria. The KMDs utilized herbal medicine (27.3%), body acupuncture (17.6%), scalp acupuncture (10.7%), moxibustion (6.4%), and Korean medical psychotherapy (5.9%) to treat ASD. The most commonly prescribed herbal medicine was Yukmijihwang-tang. Forty-eight (88.9%) KMDs responded that they used KM syndrome differentiation. 'Organ system, Qi, Blood, Yin, Yang, Fluid and Humor diagnosis' was most frequently used for syndrome differentiation. ASD was mainly diagnosed based on the fourth edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-IV) and DSM-5. The present study demonstrated the current status of KMDs' diagnosis and treatment of ASD. In future clinical trials and clinical practice guidelines, these findings will provide meaningful information on the actual practice patterns of KMDs.

  7. A retrospective study of toddlers with autism spectrum disorder: Clinical and developmental profile

    Directory of Open Access Journals (Sweden)

    Prahbhjot Malhi

    2014-01-01

    Full Text Available Objective: To retrospectively examine the developmental and clinical characteristics of children with autism spectrum disorders (ASD in the first 2 years of life in order to narrow the interval between parental concern and getting a reliable diagnosis of autism. Materials and Methods: The case records of 21 children in whom a diagnosis of ASD was made in the first 2 years of life and confirmed 6 months to 1 year later were examined. The inclusion criterion was absence of neurological, metabolic, or genetic disorders and sensory or motor impairments. These case records were maintained in the Pediatric Psychology Clinic at the Department of Pediatrics of a tertiary care teaching hospital in North India. Results: The average age at presentation to the clinic was 21.23 months (SD = 2.18. The clinical characteristics that were found in two-thirds or more children included lack of speech, inability to follow verbal commands, lack of pretend play, no index finger pointing, difficulty in playing with toys in a constructive manner, lack of joint attention, and motor stereotypies. The mean IQ was 66.62 (SD = 15.11 and the mean SQ as measured by the Vineland Social Maturity Scale was 80.43 (SD = 17.45. Conclusions: Given the validity of early diagnosis over time, clinicians should be encouraged not only to make an early diagnosis but also to initiate early interventions in children with ASD.

  8. Clinical characteristics of disabling attacks at onset in patients with neuromyelitis optica spectrum disorder.

    Science.gov (United States)

    Seok, Jin Myoung; Cho, Eun Bin; Lee, Hye Lim; Cho, Hye-Jin; Min, Ju-Hong; Lee, Kwang Ho; Kim, Byoung Joon

    2016-09-15

    Individual attacks of neuromyelitis optica (NMO) are generally severe enough to cause disability even after the onset attack. We aimed to elucidate the clinical characteristics of disabling attacks at the onset of NMO. We investigated the clinical characteristics at onset and at first relapse in patients with NMO or NMO spectrum disorder with seropositive for the anti-aquaporin-4 antibody. A disabling attack at onset (DAO) was defined as an onset attack in which, at best recovery (allowing up to one year), patients were unable to walk without assistance or were left functionally blind in at least one affected eye. Fifty-seven patients were enrolled (53 females; onset age, 41.9±14.8years). Ten patients (17.5%) had a DAO; four had become unable to walk without assistance following myelitis, and six had severe visual impairment following optic neuritis despite rescue treatments. Attack severity at nadir was the only clinical factor predicting a DAO (odds ratio, 2.120; 95% CI, 1.162-3.869; P=0.014). The use of immunosuppressants delayed the interval to the first relapse (P=0.003). Our study showed characteristics of NMO onset attacks that caused severe disability. However, no clinically modifiable factors predicted disabling attacks, except attack severity. Copyright © 2016 Elsevier B.V. All rights reserved.

  9. Psoriasis or not? Review of 51 clinically confirmed cases reveals an expanded histopathologic spectrum of psoriasis.

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    Chau, Thinh; Parsi, Kory K; Ogawa, Toru; Kiuru, Maija; Konia, Thomas; Li, Chin-Shang; Fung, Maxwell A

    2017-12-01

    Psoriasis is usually diagnosed clinically, so only non-classic or refractory cases tend to be biopsied. Diagnostic uncertainty persists when dermatopathologists encounter features regarded as non-classic for psoriasis. Define and document classic and non-classic histologic features in skin biopsies from patients with clinically confirmed psoriasis. Minimal clinical diagnostic criteria were informally validated and applied to a consecutive series of biopsies histologically consistent with psoriasis. Clinical confirmation required 2 of the following criteria: (1) classic morphology, (2) classic distribution, (3) nail pitting, and (4) family history, with #1 and/or #2 as 1 criterion in every case RESULTS: Fifty-one biopsies from 46 patients were examined. Classic features of psoriasis included hypogranulosis (96%), club-shaped rete ridges (96%), dermal papilla capillary ectasia (90%), Munro microabscess (78%), suprapapillary plate thinning (63%), spongiform pustules (53%), and regular acanthosis (14%). Non-classic features included irregular acanthosis (84%), junctional vacuolar alteration (76%), spongiosis (76%), dermal neutrophils (69%), necrotic keratinocytes (67%), hypergranulosis (65%), neutrophilic spongiosis (61%), dermal eosinophils (49%), compact orthokeratosis (37%), papillary dermal fibrosis (35%), lichenoid infiltrate (25%), plasma cells (16%), and eosinophilic spongiosis (8%). Psoriasis exhibits a broader histopathologic spectrum. The presence of some non-classic features does not necessarily exclude the possibility of psoriasis. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Symptoms of autism and schizophrenia spectrum disorders in clinically referred youth with oppositional defiant disorder.

    Science.gov (United States)

    Gadow, Kenneth D; Drabick, Deborah A G

    2012-01-01

    Examined autism spectrum disorder (ASD) and schizophrenia spectrum disorder (SSD) symptoms in a clinically referred, non-ASD sample (N=1160; ages 6-18) with and without oppositional defiant disorder (ODD). Mothers and teachers completed DSM-IV-referenced symptom checklists. Youth with ODD were subdivided into angry/irritable symptom (AIS) or noncompliant symptom (NS) subtypes. Two different classification strategies were used: within-informant (source-specific) and between-informant (source-exclusive). For the source-specific strategy, youth were classified AIS, NS, or Control (C) according to mothers' and teachers' ratings separately. A second set of analyses focused on youth classified AIS according to mother or teacher report but not both (source-exclusive) versus both mother and teacher (cross-informant) AIS. Results indicated the mother-defined source-specific AIS groups generally evidenced the most severe ASD and SSD symptoms (AIS>NS>C), but this was more pronounced among younger youth. Teacher-defined source-specific ODD groups exhibited comparable levels of symptom severity (AIS, NS>C) with the exception of SSD (AIS>NS>C; younger youth). Source-exclusive AIS groups were clearly differentiated from each other, but there was little evidence of differential symptom severity in cross-informant versus source-exclusive AIS. These findings were largely dependent on the informant used to define the source-exclusive groups. AIS and NS groups differed in their associations with ASD and SSD symptoms. Informant discrepancy provides valuable information that can inform nosological and clinical concerns and has important implications for studies that use different strategies to configure clinical phenotypes. Copyright © 2012 Elsevier Ltd. All rights reserved.

  11. Spectrum of Disorders Associated with Elevated Serum IgG4 Levels Encountered in Clinical Practice

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    Jay H. Ryu

    2012-01-01

    Full Text Available IgG4-related disease (IgG4-RD is a recently described systemic fibroinflammatory disease associated with elevated circulating levels of IgG4 and manifests a wide spectrum of clinical presentations. Although serum IgG4 level has been described to be the most sensitive and specific laboratory test for the diagnosis of IgG4-RD, it is recognized that an elevated serum IgG4 level can be encountered in other diseases. In this study, we sought to identify the frequency of IgG4-RD and other disease associations in patients with elevated serum IgG4 levels seen in clinical practice. Among 3,300 patients who underwent IgG subclass testing over a 2-year period from January 2009 to December 2010, 158 (4.8% had an elevated serum IgG4 level (>140 mg/dL. IgG4 subclass testing was performed for evaluation of suspected IgG4-RD or immunodeficiency. Twenty-nine patients (18.4% had definite or possible IgG4-RD. Among those patients without IgG4-RD, a broad spectrum of biliary tract, pancreatic, liver, and lung diseases, as well as systemic vasculitis, was diagnosed. We conclude that patients with elevated serum IgG4 levels encountered in clinical practice manifest a wide array of disorders, and only a small minority of them has IgG4-RD.

  12. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations

    Science.gov (United States)

    Al Shibli, Amar; Narchi, Hassib

    2015-01-01

    Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS, except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists. The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children. Clinical symptoms and biochemical markers of GS and classic form of BS (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although BS and GS usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations. PMID:26140272

  13. Gaze palsy, hypogeusia and a probable association with miscarriage of pregnancy--the expanding clinical spectrum of non-opticospinal neuromyelitis optica spectrum disorders: a case report.

    Science.gov (United States)

    Chang, Thashi; Withana, Milinda

    2015-02-10

    Neuromyelitis optica is characterised by optic neuritis, longitudinally-extensive transverse myelitis and presence of anti-aquaporin-4 antibodies in the serum. However, non-opticospinal central nervous system manifestations have been increasingly recognised. Awareness of the widening clinical spectrum of neuromyelitis optica (unified within the nosology of 'neuromyelitis optica spectrum disorders') is key to earlier diagnosis and appropriate therapy. We report 2 patients to illustrate the varied clinical manifestations of neuromyelitis optica spectrum disorders while postulating an effect of anti-aquaporin-4 antibodies on the miscarriage of pregnancy. This is the first report of horizontal gaze palsy as a presenting symptom of neuromyelitis optica spectrum disorders. Patient 1: A 17-year-old Sri Lankan female presented with hypersomnolence, lateral gaze palsy and loss of taste of 1 week duration. Two years previously she had presented with intractable hiccups and vomiting followed by a brainstem syndrome. Magnetic resonance imaging showed a lesion in the left cerebellum extending into the pons while lesions in bilateral hypothalami and medulla noted 2 years ago had resolved. Autoimmune, vasculitis and infection screens were negative. Anti-aquaporin-4 antibodies were detected in serum. All her symptoms resolved with immunosuppressive therapy. Patient 2: A 47-Year-old Sri Lankan female presented with persistent vomiting lasting over 3 weeks. Three years previously, at 25-weeks of her 4(th) pregnancy, she had presented with quadriparesis and was found to have a longitudinally extensive transverse myelitis from C2 to T2 vertebral levels, which gradually improved following intravenous steroid therapy. Magnetic resonance imaging showed a hyper-intense lesion in the area postrema and longitudinally extensive atrophy of the cord corresponding to her previous myelitis. Autoimmune, vasculitis and infection screens were negative. Anti-aquaporin-4 antibodies were detected in

  14. Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Valsamma eEapen

    2013-09-01

    Full Text Available Autism Spectrum Disorder (ASD is amongst the most familial of psychiatric disorders. Twin and family studies have demonstrated a monozygotic concordance rate of 70–90%, dizygotic concordance of around 10% and more than a 20-fold increase in risk for first-degree relatives. Despite major advances in the genetics of autism, the relationship between different aspects of the behavioural and cognitive phenotype and their underlying genetic liability is still unclear. This is complicated by the heterogeneity of autism, which exists at both genetic and phenotypic levels. Given this heterogeneity, one method to find homogeneous entities and link these with specific genotypes would be to pursue endophenotypes. Evidence from neuroimaging, eye tracking and electrophysiology studies supports the hypothesis that, building on genetic vulnerability, ASD emerges from a developmental cascade in which a deficit in attention to social stimuli leads to impaired interactions with primary caregivers. This results in abnormal development of the neurocircuitry responsible for social cognition, which in turn adversely affects later behavioural and functional domains dependent on these early processes, such as language development. Such a model begets a heterogeneous clinical phenotype, and is also supported by studies demonstrating better clinical outcomes with earlier treatment. Treatment response following intensive early behavioural intervention in ASD is also distinctly variable; however, relatively little is known about specific elements of the clinical phenotype that may predict response to current behavioural treatments. This paper overviews the literature regarding genotypes, phenotypes and predictors of response to behavioural intervention in ASD and presents suggestions for future research to explore linkages between these that would enable better identification of, and increased treatment efficacy for, ASD.

  15. Clinical Case Reporting in the Peer-Reviewed Physical Therapy Literature: Time to Move Toward Functioning.

    Science.gov (United States)

    Davenport, Todd E

    2015-12-01

    Physical therapists increasingly are contributing clinical case reports to the health literature, which form the basis for higher quality evidence that has been incorporated into clinical practice guidelines. Yet, few resources exist to assist physical therapists with the basic mechanics and quality standards of producing a clinical case report. This situation is further complicated by the absence of uniform standards for quality in case reporting. The importance of including a concise yet comprehensive description of patient functioning in all physical therapy case reports suggest the potential appropriateness of basing quality guidelines on the World Health Organization's International Classification of Functioning Disability and Health (ICF) model. The purpose of this paper is to assist physical therapists in creating high-quality clinical case reports for the peer-reviewed literature using the ICF model as a guiding framework. Along these lines, current recommendations related to the basic mechanics of writing a successful clinical case report are reviewed, as well and a proposal for uniform clinical case reporting requirements is introduced with the aim to improve the quality and feasibility of clinical case reporting in physical therapy that are informed by the ICF model. Copyright © 2013 John Wiley & Sons, Ltd.

  16. Distinguishing between attention-deficit hyperactivity and fetal alcohol spectrum disorders in children: clinical guidelines

    Directory of Open Access Journals (Sweden)

    Elizabeth Peadon

    2010-08-01

    Full Text Available Elizabeth Peadon, Elizabeth J ElliottDiscipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, AustraliaAbstract: Fetal alcohol spectrum disorders (FASD are the physical and neurodevelopmental outcomes of fetal alcohol exposure. The behavioral phenotype of children with FASD includes difficulties with executive function, memory, planning, processing speed, and attention. Although attention deficit hyperactivity disorder (ADHD is diagnosed in up to 94% of individuals with heavy prenatal alcohol exposure, the exact relationship between FASD and ADHD is unclear. There is some evidence that ADHD in FASD may be a specific clinical subtype and thus may require a different treatment approach. Although traditional behavioral observation scales may not distinguish between the two groups, there is evidence that children with FASD have a different profile on the four-factor model of attention than children with ADHD who do not have FASD. There is a paucity of good scientific evidence on effective interventions for individuals with ADHD and FASD. There is weak evidence that children with FASD and ADHD may have a better response to dexamphetamine than methylphenidate. There is a strong need for larger, high quality studies to examine the relationship between ADHD and FASD and identify effective treatments because management of inattention and hyperactivity may improve learning and ameliorate the common secondary disabilities associated with FASD.Keywords: fetal alcohol spectrum disorders, attention deficit hyperactivity disorder

  17. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    NARCIS (Netherlands)

    Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives T o delineate the clinical spectrum of PURA syndrome and

  18. Self-Reported Autism Spectrum Disorder Symptoms Among Adults Referred to a Gender Identity Clinic.

    Science.gov (United States)

    Vermaat, Lieke E W; van der Miesen, Anna I R; de Vries, Annelou L C; Steensma, Thomas D; Popma, Arne; Cohen-Kettenis, Peggy T; Kreukels, Baudewijntje P C

    The purpose of this study was to (1) investigate autism spectrum disorder (ASD) symptoms in a sample of adults referred for gender dysphoria (GD) compared to typically developing (TD) populations, (2) see whether males assigned at birth with GD (MaB GD s) and females assigned at birth with GD (FaB GD s) differ in ASD symptom levels, (3) study the role of sexual orientation, and (4) investigate ASD symptoms' correlation with GD symptoms. The Autism-Spectrum Quotient (AQ) was used to measure ASD symptoms, and the Utrecht Gender Dysphoria Scale (UGDS) was used to measure the intensity of GD. Mean AQ scores of adults referred for GD (n = 326; 191 MaB GD and 135 FaB GD ) were compared to three TD populations taken from the literature (n = 1316; 667 male and 644 female, 5 birth-assigned sex unknown). The mean AQ score in individuals referred for GD was similar to the TD samples. FaB GD s showed higher mean AQ scores than MaB GD s, and they had mean scores similar to TD individuals of the same experienced gender (TD males). After selecting individuals with an UGDS score indicative of GD, a positive association between ASD and GD symptoms was found. The co-occurrence of GD and ASD in adults may not be as prevalent as previously suggested. Attenuation of sex differences in ASD might explain FaB GD s' and MaB GD s' ASD symptoms' similarity to those of TD individuals of the same experienced gender. Intensity of ASD symptoms might be correlated with intensity of GD symptoms, warranting further studies to elaborate on their potential co-occurrence.

  19. Mobile technology and its use in clinical nursing education: a literature review.

    Science.gov (United States)

    O'Connor, Siobhan; Andrews, Tom

    2015-03-01

    Nursing students face a variety of challenges to learning in clinical practice, from the theory-practice gap, to a lack of clinical supervision and the ad hoc nature of learning in clinical environments. Mobile technology is proposed as one way to address these challenges. This article comprehensively summarizes and critically reviews the available literature on mobile technology used in undergraduate clinical nursing education. It identifies the lack of clear definitions and theory in the current body of evidence; the variety of mobile devices and applications used; the benefits of mobile platforms in nursing education; and the complexity of sociotechnical factors, such as the cost, usability, portability, and quality of mobile tools, that affect their use in undergraduate clinical nursing education. Implications for nursing education and practice are outlined, and recommendations for future research are discussed. Copyright 2015, SLACK Incorporated.

  20. Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

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    Juliana F. Mazzeu

    2007-03-01

    Full Text Available Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS and Wolf-Hirschhorn syndrome (WHS, the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (Array-CGH. In addition to the typical features of PRDS, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness infrequently, or never previously, reported in PRDS. These findings broaden the spectrum of anomalies generally associated with these syndromes.

  1. Clinical Application of the PES/WES Index on Natural Teeth: Case Report and Literature Review

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    Alessandro Lanza

    2017-01-01

    Full Text Available The use of reliable indices to evaluate the aesthetic outcomes in the aesthetic area is an important and objective clinical aid to monitor the results over time. According to the literature various indices were proposed to evaluate aesthetic outcomes of implant-prosthetic rehabilitation of the anterior area like Peri-Implant and Crown Index [PICI], Implant Crown Aesthetic Index [ICAI], Pink Esthetic Score/White Esthetic Score [PES/WES], and Pink Esthetic Score [PES] but none of them was related to prosthetic rehabilitation on natural teeth. The aim of this study is to verify the validity of PES/WES index for natural tooth-prosthetic rehabilitation of the anterior area. As secondary objective, we proposed to evaluate the long-term predictability of this clinical application, one of which is presented below, following the analysis of the most currently accepted literature.

  2. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

    Science.gov (United States)

    Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina

    2017-09-07

    Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and gene-specific) for a clinical suspicion of spEDS have been proposed, but molecular analysis is required to reach a definite diagnosis. The majority of spEDS patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity and/or its complications. To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. Additional 22 patients affected with an overlapping phenotype, i.e., Larsen of Reunion Island syndrome, all carrying a homozygous B4GALT7 mutation, are also recognized. Herein, we report on a 30-year-old Moroccan woman who fitted the minimal criteria to suspect spEDS, but lacked radioulnar synostosis and intellectual disability and presented with neurosensorial hearing loss and limb edema of lymphatic origin. Sanger sequencing of B4GALT7 was performed since the evaluation of the spEDS gene-specific minor criteria suggested this specific subtype. Mutational screening revealed the homozygous c.829G>T, p.Glu277* pathogenetic variant leading to aberrant splicing. Our findings expand both the clinical and mutational spectrum of this ultrarare connective tissue disorder. The comparison of the patient's features with those of the other spEDS and Larsen of Reunion Island syndrome patients reported up to now offers future perspectives for spEDS nosology and clinical research in this field.

  3. The clinical spectrum and antibiotic sensitivity patterns of staphylococcal pyodermas in the community and hospital

    Directory of Open Access Journals (Sweden)

    Shireen Furtado

    2014-01-01

    Full Text Available Context: The uncontrolled use of antibiotics has resulted in a relentless spread of multiresistant strains of Staphylococcus aureus. There are studies conducted in medical colleges in Chandigarh, Chennai, Mumbai and Vellore comparing pyodermas in the community and hospital setting based on clinical and bacteriological parameters. Aims: This study, conducted over 1½ years from March 2009 to August 2010, aimed at analyzing the clinical spectrum and antibiotic sensitivity pattern of community and hospital-associated (HA staphylococcal pyoderma. It also assessed the prevalence of methicillin-resistant S. aureus (MRSA in the community and hospital cohort settings. Subjects and Methods: The study comprised of 200 cases of staphylococcal pyodermas, derived from the community (150 cases and hospital (50 cases. Patients were evaluated based on their clinical presentation; antibiotic susceptibility was tested using the Kirby-Bauer disk diffusion method. Statistical Analysis Used: Statistical significance between individual attributes between the community and HA staphylococcal pyoderma groups was analyzed using Chi-square test and mean differences using student′s t-test. Results: Factors associated with community-associated (CA pyodermas were young age (P = 0.0021, primary pyodermas, and involvement of extremities, while those with HA pyodermas were middle age, secondary pyodermas, and significantly increased body surface involvement (P = 0.041. Incidence of CA-MRSA was 11.3%, while that of HA-MRSA was 18%. Conclusions: A high level of resistance to first-line drugs such as penicillin, ciprofloxacin and cotrimoxazole was observed, more so in the hospital strain than in the community strain. S. aureus demonstrated good susceptibility to cephalosporins. Though the two strains of MRSA differed clinically, they showed 100% sensitivity to vancomycin and linezolid.

  4. Clinical Application of the PES/WES Index on Natural Teeth: Case Report and Literature Review

    OpenAIRE

    Lanza, Alessandro; Di Francesco, Fabrizio; De Marco, Gennaro; Femiano, Felice; Itro, Angelo

    2017-01-01

    The use of reliable indices to evaluate the aesthetic outcomes in the aesthetic area is an important and objective clinical aid to monitor the results over time. According to the literature various indices were proposed to evaluate aesthetic outcomes of implant-prosthetic rehabilitation of the anterior area like Peri-Implant and Crown Index [PICI], Implant Crown Aesthetic Index [ICAI], Pink Esthetic Score/White Esthetic Score [PES/WES], and Pink Esthetic Score [PES] but none of them was relat...

  5. A systematic literature review of automated clinical coding and classification systems.

    Science.gov (United States)

    Stanfill, Mary H; Williams, Margaret; Fenton, Susan H; Jenders, Robert A; Hersh, William R

    2010-01-01

    Clinical coding and classification processes transform natural language descriptions in clinical text into data that can subsequently be used for clinical care, research, and other purposes. This systematic literature review examined studies that evaluated all types of automated coding and classification systems to determine the performance of such systems. Studies indexed in Medline or other relevant databases prior to March 2009 were considered. The 113 studies included in this review show that automated tools exist for a variety of coding and classification purposes, focus on various healthcare specialties, and handle a wide variety of clinical document types. Automated coding and classification systems themselves are not generalizable, nor are the results of the studies evaluating them. Published research shows these systems hold promise, but these data must be considered in context, with performance relative to the complexity of the task and the desired outcome.

  6. Religion, Spirituality, and HIV Clinical Outcomes: A Systematic Review of the Literature.

    Science.gov (United States)

    Doolittle, B R; Justice, A C; Fiellin, D A

    2018-06-01

    This systematic review evaluates the association between religion, spirituality and clinical outcomes in HIV-infected individuals. A systematic literature review was conducted for all English language articles published between 1980 and 2016 in relevant databases. Six hundred fourteen studies were evaluated. 15 met inclusion criteria. Ten (67%) studies reported a positive association between religion or spirituality and a clinical HIV outcome. Two (13%) studies failed to detect such an association; and two (13%) demonstrated a negative association. One study (7%) identified features of religiosity and spirituality that had both negative and positive associations with HIV clinical outcomes. Recognizing the religious or spiritual commitments of patients may serve as an important component of patient care. Further longitudinal studies and interventions might be required to further clarify the potential impact of religion and spirituality on HIV clinical outcomes.

  7. Education and training to support the use of clinical telehealth: A review of the literature.

    Science.gov (United States)

    Edirippulige, S; Armfield, N R

    2017-02-01

    Introduction Despite a growing literature base, substantial investment, and policy changes within governments, the integration of telehealth into routine clinical care has been limited. The availability of appropriate systematic education and training for practitioners has been highlighted as necessary for strong adoption. However, the availability and nature of telehealth-related education and training for practitioners is not understood. By reviewing the literature, we aimed to describe the delivery of education and training in telehealth, with particular focus on content, modes of delivery, types of institutions, and target clinician groups. Methods We performed searches using PubMed, Scopus, Embase, Web of Science, PsycINFO, the Cochrane Library, and ERIC. We included studies that were focused on the delivery of telehealth-related academic or vocational education and training. We extracted information pertaining to country, programs and their participants, and tabulated the results. Results Altogether 388 articles were identified, of which nine studies were selected for final review. Programs from five countries were represented and articles were spread across telemedicine and clinically oriented journals. Education and training in telehealth has been provided as both university level and vocational courses using conventional classroom based delivery methods and e-learning. Reported curriculum items included terminology, clinical applications, the evidence-base, and technological aspects. Conclusions Published evidence in peer-reviewed literature on telehealth education and training is limited. According to this review, a number of topics relating to telehealth have been covered by existing education programs both within tertiary and professional development levels.

  8. Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders

    Science.gov (United States)

    Kim, Ki Chan; Gonzales, Edson Luck; Lázaro, María T.; Choi, Chang Soon; Bahn, Geon Ho; Yoo, Hee Jeong; Shin, Chan Young

    2016-01-01

    Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication impairments, as well as repetitive and restrictive behaviors. The phenotypic heterogeneity of ASD has made it overwhelmingly difficult to determine the exact etiology and pathophysiology underlying the core symptoms, which are often accompanied by comorbidities such as hyperactivity, seizures, and sensorimotor abnormalities. To our benefit, the advent of animal models has allowed us to assess and test diverse risk factors of ASD, both genetic and environmental, and measure their contribution to the manifestation of autistic symptoms. At a broader scale, rodent models have helped consolidate molecular pathways and unify the neurophysiological mechanisms underlying each one of the various etiologies. This approach will potentially enable the stratification of ASD into clinical, molecular, and neurophenotypic subgroups, further proving their translational utility. It is henceforth paramount to establish a common ground of mechanistic theories from complementing results in preclinical research. In this review, we cluster the ASD animal models into lesion and genetic models and further classify them based on the corresponding environmental, epigenetic and genetic factors. Finally, we summarize the symptoms and neuropathological highlights for each model and make critical comparisons that elucidate their clinical and neurobiological relevance. PMID:27133257

  9. Clinical spectrum of psychogenic non epileptic seizures in children; an observational study.

    Science.gov (United States)

    Madaan, Priyanka; Gulati, Sheffali; Chakrabarty, Biswaroop; Sapra, Savita; Sagar, Rajesh; Mohammad, Akbar; Pandey, R M; Tripathi, Manjari

    2018-07-01

    The current study was designed to analyze the clinical spectrum of Psychogenic non-epileptic seizures (PNES) in children. Children aged 6-16years with clinically suspected PNES, confirmed by short-term VEEG (STVEEG{video electroencephalogram}) and induction were classified as per Seneviratne classification. Stressors, associated co morbidities, Verbal IQ (Intelligence Quotient) and behavioral abnormalities were assessed using HTP(House tree person) test, DSM IV (Diagnostic and statistical manual of mental disorders) TR criteria, MISIC (Malin intelligence scale for Indian children) and CBCL (Child behaviour checklist). Eighty children with PNES {45 boys; mean age: 10.5 (±1.6) years} were enrolled. Median delay in diagnosis was 5 months {IQR(interquartile range)- 0.5 to 48 months}) and 45% patients were already on AEDs (antiepileptic drugs). Commonest semiology was dialeptic (42.5%), followed by mixed (28.8%), motor (15%) and nonepileptic aura (13.8%). Family stressors were the commonest followed by school related issues. The most common psychiatric comorbidity was adjustment disorder. Somatic complaints were observed in 50% children. Dialeptic PNES is commonest in children. In resource constrained settings, STVEEG along with induction is a reliable method to diagnose PNES. A comprehensive assessment protocol (including assessment of stressors) is needed for holistic management of pediatric PNES. Copyright © 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  10. Comparative clinical characteristics of neuromyelitis optica spectrum disorders with and without medulla oblongata lesions.

    Science.gov (United States)

    Wang, Yanqiang; Zhang, Lei; Zhang, Bingjun; Dai, Yongqiang; Kang, Zhuang; Lu, Ciyong; Qiu, Wei; Hu, Xueqiang; Lu, Zhengqi

    2014-05-01

    Brainstem involvement, especially the medulla oblongata (MO), has been reported in neuromyelitis optica spectrum disorders (NMOSDs). The purpose of this study was to investigate retrospectively and compare clinical, laboratory, and imaging features of NMOSDs with and without MO lesions. A total of 170 patients with NMOSDs were enrolled, including 44 patients with MO lesions and 126 patients without MO lesions. Clinical features, laboratory tests, and magnetic resonance imaging findings among these patients were assessed. MO lesions were found in 25.9 % of the NMOSDs patients. The mean duration was 13 months. Patients with MO lesions had a higher Annualized relapse rate and Expanded Disability Status Score Scale. Headache, dizziness, nystagmus, dysarthria, intractable hiccup and nausea, choking cough or dysphagia, movement disorders, and neuropathic pain were more common in MO lesion patients. Patients with MO lesions were more frequently complicated with thyroid diseases. Multiple brain involvement, More importantly, Longitudinally extensive transverse myelitis were more frequently found in patients with MO lesions. MO lesions might be a symbol of more severe neurologic deficits and worse prognosis of NMOSDs.

  11. A Study of the Correlation between VEP and Clinical Severity in Children with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Winai Sayorwan

    2018-01-01

    Full Text Available Visual evoked potential (VEP is a technique used to assess the brain’s electrical response to visual stimuli. The aims of this study were to examine neural transmission within the visual pathway through VEP testing in preschool children with autism spectrum disorder (ASD and compare it to age-matched controls, as well as search for a correlation between the VEP parameters and the symptoms of ASD. Participants were composed of ASD children (9 males and typically developing children (8 males and 4 females, aged between 3 and 5 years. Checkerboards were chosen as the pattern-reversal VEP. The clinical severity of ASD was assessed using the Autism Treatment Evaluation Checklist (ATEC and the Vineland Adaptive Behavior Scales 2nd edition (VABS-II. Our findings demonstrated that children with ASD had significantly longer N145 latency compared to the controls. A longer N145 latency correlated with a higher score of ATEC within the sensory/cognitive awareness subdomain. In addition, a slower N145 response was also associated with a lower VABS-II score within the socialization domain. The correlation between longer VEP latency and abnormal behaviors in children with ASD suggests a delayed neural communication within other neural circuits, apart from the visual pathway. These lines of evidence support the possibility of using VEP, along with clinical parameters, for the assessment of ASD severity.

  12. Susceptibility pattern of extended spectrum beta-lactamase producing isolates in various clinical specimens

    International Nuclear Information System (INIS)

    Roshan, M.

    2011-01-01

    Objective: To determine the susceptibility pattern of extended spectrum beta-lactamase (ESBL) producing Gram negative isolates from various clinical specimens. Study Design: Descriptive study. Place and Duration of Study: Microbiology Department, Armed Forces Institute of Pathology, Rawalpindi, from January 2008 to January 2009. Methodology: A total of 308 ESBL producing isolates from various clinical specimens sent to AFIP for culture and sensitivity were identified using standard microbiological techniques and tested for antimicrobial susceptibility. At the same time screening for ESBL production was also done. ESBL production was confirmed by combination disc synergy method. The susceptibility pattern of isolates was then recorded in frequency percentages. Results: Out of the 308 ESBL producing isolates more than 99% were susceptible to carbapenems, 84% to tazobactam/ piperacillin, 81% to sulbactam/cefoperazone, 12% to fluoroquinolones, 13% to cotrimoxazole, 59% to amikacin and 18% to gentamicin. Among the urinary isolates 49% were susceptible to Nitrofurontoin and only 5% to Pipemidic acid. Conclusion: Antibiotic choices in case of ESBL producing isolates are limited and at present only carbapenems can be regarded as treatment of choice. As empirical agents, beta-lactam/beta lactamase inhibitor combinations should be used cautiously for serious infections. Fluoroquinolones showed very poor efficacy. Amikacin can be used alternatively in such cases. Nitrofurantoin is still a good oral agent for treating UTI. (author)

  13. Parents’ Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder—Data from a Norwegian Sample

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    Jarle Johannessen

    2017-05-01

    Full Text Available Clinical genetic testing (CGT of children with autism spectrum disorder (ASD may have positive and negative effects. Knowledge about parents’ attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents’ attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child’s ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49–67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child’s future and cause family conflicts. Parents against CGT (9% were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children’s ASD diagnosis had a weak positive association with parent’s positive attitudes to CGT (p-values range from <0.001 to 0.975. Parents prefer that CGT is offered to those having a child with ASD (65%, when the child’s development deviates from normal (48%, or before pregnancy (36%. A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.

  14. Music therapy in the assessment and treatment of autistic spectrum disorder: clinical application and research evidence.

    Science.gov (United States)

    Wigram, T; Gold, C

    2006-09-01

    Children and adolescents with autistic spectrum disorder (ASD) presenting with significant limitations in conventional forms of verbal and non-verbal communication are found to respond positively to music therapy intervention involving both active, improvizational methods and receptive music therapy approaches. Improvizational musical activity with therapeutic objectives and outcomes has been found to facilitate motivation, communication skills and social interaction, as well as sustaining and developing attention. The structure and predictability found in music assist in reciprocal interaction, from which tolerance, flexibility and social engagement to build relationships emerge, relying on a systematic approach to promote appropriate and meaningful interpersonal responses. Published reports of the value and effectiveness of music therapy as an intervention for children with ASD range from controlled studies to clinical case reports. Further documentation has emphasized the role music therapy plays in diagnostic and clinical assessment. Music therapy assessment can identify limitations and weaknesses in children, as well as strengths and potentials. Research evidence from a systematic review found two randomized controlled trials that examined short-term effects of structured music therapy intervention. Significant effects were found in these studies even with extremely small samples, and the findings are important because they demonstrate the potential of the medium of music for autistic children. Case series studies were identified that examined the effects of improvizational music therapy where communicative behaviour, language development, emotional responsiveness, attention span and behavioural control improved over the course of an intervention of improvizational music therapy.

  15. Longitudinal assessment of clinical risk factors for depression in schizophrenia spectrum disorders.

    Science.gov (United States)

    Onwuameze, Obiora E; Uga, Aghaegbulam; Paradiso, Sergio

    2016-08-01

    During initial assessment of individuals with schizophrenia and related disorders (schizophrenia spectrum disorders [SSDs]), clinicians tend to pay greater attention to psychotic symptoms than mood symptoms, including depression. Depression is reported to influence the course of SSDs, but not much is known about the risk factors for depression in SSDs. In the present study, we examined clinical predictors of depression in SSDs. The sample included 71 patients with SSDs followed in a modified Assertive Community Treatment program, the Community Support Network of Springfield, Illinois. The study design was naturalistic, prospective, and longitudinal (mean follow-up = 8.3 years; SD = 7.3). The GENMOD procedure appropriate for repeated measures analysis with dichotomous outcome variables followed longitudinally was computed. Rates of depression ranged from 18% to 41% over the differing assessment periods. Schizophrenia and schizoaffective disorder did not vary by depression rate. Depression independent of SSD diagnosis was associated with greater hospitalization rates. Clinical variables predict- ing depression were auditory hallucinations, delusions, poor insight, and poor judgment. Psychotic symptoms in the course of SSDs are risk factors for depression. As a consequence, the mental status examination of patients with SSDs with active psychosis should include assessment of mood changes. Further research is warranted to determine if treatment of depression among patients with SSDs may reduce their rates of hospitalization.

  16. Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.

    Science.gov (United States)

    Johannessen, Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Høyland, Anne Lise; Strohmaier, Jana; Heiberg, Arvid; Rietschel, Marcella; Djurovic, Srdjan; Andreassen, Ole A

    2017-05-18

    Clinical genetic testing (CGT) of children with autism spectrum disorder (ASD) may have positive and negative effects. Knowledge about parents' attitudes is needed to ensure good involvement of caregivers, which is crucial for accurate diagnosis and effective clinical management. This study aimed to assess parents' attitudes toward CGT for ASD. Parent members of the Norwegian Autism Society were given a previously untested questionnaire and 1455 answered. Linear regression analyses were conducted to evaluate contribution of parent and child characteristics to attitude statements. Provided it could contribute to a casual explanation of their child's ASD, 76% would undergo CGT. If it would improve the possibilities for early interventions, 74% were positive to CGT. Between 49-67% agreed that CGT could have a negative impact on health insurance, increase their concern for the child's future and cause family conflicts. Parents against CGT (9%) were less optimistic regarding positive effects, but not more concerned with negative impacts. The severity of the children's ASD diagnosis had a weak positive association with parent's positive attitudes to CGT ( p -values range from <0.001 to 0.975). Parents prefer that CGT is offered to those having a child with ASD (65%), when the child's development deviates from normal (48%), or before pregnancy (36%). A majority of the parents of children with ASD are positive to CGT due to possibilities for an etiological explanation.

  17. Chest CT using spectral filtration: radiation dose, image quality, and spectrum of clinical utility

    Energy Technology Data Exchange (ETDEWEB)

    Braun, Franziska M.; Johnson, Thorsten R.C.; Sommer, Wieland H.; Thierfelder, Kolja M.; Meinel, Felix G. [University Hospital Munich, Institute for Clinical Radiology, Munich (Germany)

    2015-06-01

    To determine the radiation dose, image quality, and clinical utility of non-enhanced chest CT with spectral filtration. We retrospectively analysed 25 non-contrast chest CT examinations acquired with spectral filtration (tin-filtered Sn100 kVp spectrum) compared to 25 examinations acquired without spectral filtration (120 kV). Radiation metrics were compared. Image noise was measured. Contrast-to-noise-ratio (CNR) and figure-of-merit (FOM) were calculated. Diagnostic confidence for the assessment of various thoracic pathologies was rated by two independent readers. Effective chest diameters were comparable between groups (P = 0.613). In spectral filtration CT, median CTDI{sub vol}, DLP, and size-specific dose estimate (SSDE) were reduced (0.46 vs. 4.3 mGy, 16 vs. 141 mGy*cm, and 0.65 vs. 5.9 mGy, all P < 0.001). Spectral filtration CT had higher image noise (21.3 vs. 13.2 HU, P < 0.001) and lower CNR (47.2 vs. 75.3, P < 0.001), but was more dose-efficient (FOM 10,659 vs. 2,231/mSv, P < 0.001). Diagnostic confidence for parenchymal lung disease and osseous pathologies was lower with spectral filtration CT, but no significant difference was found for pleural pathologies, pulmonary nodules, or pneumonia. Non-contrast chest CT using spectral filtration appears to be sufficient for the assessment of a considerable spectrum of thoracic pathologies, while providing superior dose efficiency, allowing for substantial radiation dose reduction. (orig.)

  18. Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation.

    Science.gov (United States)

    Guthrie, Whitney; Swineford, Lauren B; Nottke, Charly; Wetherby, Amy M

    2013-05-01

    Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most findings come from high-risk samples, but reports on children screened in community settings are also needed. Stability of diagnosis and Autism Diagnostic Observation Schedule – Toddler Module (ADOS-T) classifications and scores was examined across two time points in a sample of 82 children identified through the FIRST WORDS Project.Children received two comprehensive diagnostic evaluations at average ages of 19.39 (SD = 2.12) and 36.89 (SD = 3.85) months. Stability was 100% when confirming and ruling out a diagnosis of ASD based on a comprehensive diagnostic evaluation that included clinic and home observations,although diagnosis was initially deferred for 17% of the sample. Receiver Operating Characteristic curves revealed excellent sensitivity and acceptable specificity for the ADOS-T compared to concurrent diagnosis. Logistic regressions indicated good predictive value of initial ADOS-T scores for follow-up diagnosis. Finally, both ASD and Non-ASD children demonstrated a decrease in Social Affect scores (i.e.,improvement), whereas children with ASD demonstrated an increase in Restricted and Repetitive Behavior scores (i.e., worsening), changes that were accounted for by nonverbal developmental level in mixed model analyses. Short-term stability was documented for children diagnosed at 19 months on average, although a minority of children initially showed unclear diagnostic presentations.Findings highlight utility of the ADOS-T in making early diagnoses and predicting follow-up diagnoses. Children with ASD demonstrated improvement in social communication behaviors and unfolding of repetitive behaviors, suggesting that certain

  19. Electronic Cigarettes and Vaping: A New Challenge in Clinical Medicine and Public Health. A Literature Review

    Science.gov (United States)

    Palazzolo, Dominic L.

    2013-01-01

    Electronic cigarette (e-cigarette) use, or vaping, in the United States and worldwide is increasing. Their use is highly controversial from scientific, political, financial, psychological, and sociological ideologies. Given the controversial nature of e-cigarettes and vaping, how should medical care providers advise their patients? To effectively face this new challenge, health care professionals need to become more familiar with the existing literature concerning e-cigarettes and vaping, especially the scientific literature. Thus, the aim of this article is to present a review of the scientific evidence-based primary literature concerning electronic cigarettes and vaping. A search of the most current literature using the pubmed database dating back to 2008, and using electronic cigarette(s) or e-cigarette(s) as key words, yielded a total of 66 highly relevant articles. These articles primarily deal with (1) consumer-based surveys regarding personal views on vaping, (2) chemical analysis of e-cigarette cartridges, solutions, and mist, (3) nicotine content, delivery, and pharmacokinetics, and (4) clinical and physiological studies investigating the effects of acute vaping. When compared to the effects of smoking, the scant available literature suggests that vaping could be a “harm reduction” alternative to smoking and a possible means for smoking cessation, at least to the same degree as other Food and Drug Administration-approved nicotine replacement therapies. However, it is unclear if vaping e-cigarettes will reduce or increase nicotine addiction. It is obvious that more rigorous investigations of the acute and long-term health effects of vaping are required to establish the safety and efficacy of these devices; especially parallel experiments comparing the cardiopulmonary effects of vaping to smoking. Only then will the medical community be able to adequately meet the new challenge e-cigarettes and vaping present to clinical medicine and public health. PMID

  20. Electronic cigarettes and vaping: a new challenge in clinical medicine and public health. A literature review.

    Science.gov (United States)

    Palazzolo, Dominic L

    2013-11-18

    Electronic cigarette (e-cigarette) use, or vaping, in the United States and worldwide is increasing. Their use is highly controversial from scientific, political, financial, psychological, and sociological ideologies. Given the controversial nature of e-cigarettes and vaping, how should medical care providers advise their patients? To effectively face this new challenge, health care professionals need to become more familiar with the existing literature concerning e-cigarettes and vaping, especially the scientific literature. Thus, the aim of this article is to present a review of the scientific evidence-based primary literature concerning electronic cigarettes and vaping. A search of the most current literature using the pubmed database dating back to 2008, and using electronic cigarette(s) or e-cigarette(s) as key words, yielded a total of 66 highly relevant articles. These articles primarily deal with (1) consumer-based surveys regarding personal views on vaping, (2) chemical analysis of e-cigarette cartridges, solutions, and mist, (3) nicotine content, delivery, and pharmacokinetics, and (4) clinical and physiological studies investigating the effects of acute vaping. When compared to the effects of smoking, the scant available literature suggests that vaping could be a "harm reduction" alternative to smoking and a possible means for smoking cessation, at least to the same degree as other Food and Drug Administration-approved nicotine replacement therapies. However, it is unclear if vaping e-cigarettes will reduce or increase nicotine addiction. It is obvious that more rigorous investigations of the acute and long-term health effects of vaping are required to establish the safety and efficacy of these devices; especially parallel experiments comparing the cardiopulmonary effects of vaping to smoking. Only then will the medical community be able to adequately meet the new challenge e-cigarettes and vaping present to clinical medicine and public health.

  1. Etiology, clinical spectrum and outcome of metabolic liver diseases in children

    International Nuclear Information System (INIS)

    Roy, A.; Samanta, T.; Purkait, R.; Mukherji, A.

    2013-01-01

    Objective: To determine the etiology, clinical spectrum and outcome of metabolic liver diseases (MLD) in children admitted in a tertiary care hospital of Eastern India. Study Design: An observational study. Place and Duration of Study: Paediatric Liver Clinic and Paediatrics Inpatient Department of Nilratan Sircar Medical College and Hospital, Kolkata, Eastern India, from April 2009 to March 2011. Methodology: All children aged 0 - 12 years having characteristic clinical features along with diagnostic hallmark of any MLDs were included in this study and data were collected on a pre-designed proforma. After appropriate management and discharge, all patients were followed-up for next 6 months. Results: Fifty one children with mean age 4.34 +- 3.78 years (range 2 days +- 12 years), male: female ratio 1.55:1, were studied. The etiologies were Wilson's disease (33.33%, n = 17); glycogen storage disorder (23.53%, n = 12); galactosemia (19.61%, n = 10); non-alcoholic fatty liver disease (11.76%, n = 6); Gaucher disease (5.88%, n = 3); mucopolysaccharidoses (3.92%, n = 2) and familial hyperlipoproteinemia type-I (1.96%, n = 1). Jaundice (n = 24) and hepatomegaly (n = 47), was the commonest symptom and sign respectively. Of the 17 non-responders, most were Wilson's disease (n = 7) cases. There was statistical difference in outcome with respect to INR > 1.3 at diagnosis (p = 0.026). Conclusion: High index of suspicion, early detection and screening, simple dietary modification and cost effective drugs along with good compliance are sufficient to treat and even prevent evolution of most causes of the MLDs. (author)

  2. Limbic encephalitis: Clinical spectrum and long-term outcome from a developing country perspective

    Directory of Open Access Journals (Sweden)

    Sujit Abajirao Jagtap

    2014-01-01

    Full Text Available Introduction: Limbic encephalitis (LE is characterized by rapidly progressive short-term memory loss, psychiatric symptoms and seizures. We describe the clinical spectrum, underlying etiology and long-term follow-up of patients with LE from India. Materials and Methods: This prospective study included patients during the period of January 2009 and December 2011 with the clinical features consistent with LE with one or more of the following: (1 Magnetic resonance imaging (MRI evidence of temporal lobe involvement; (2 cerebrospinal fluid inflammatory abnormalities, or (3 detection of antineuronal antibodies. Patients with metastasis, infection, metabolic and nutritional deficits, stroke, were excluded. Results: There were 16 patients (9 females, mean age of presentation was 36.6 years (range 15-69 years. The mean duration of symptoms before presentation was 11 months (range 5 days-2 years. The most common symptom at presentation was short-term memory impairment in 7 patients followed by seizures in 5 and behavioral changes in three. Nine patients had seizures, 11 had change in behavior, language involvement in eight, cerebellar features in 3 and autonomic dysfunction in two. Four patients had associated malignancy, 3 of four presented with neurological symptoms and on investigations found to be have malignancy. Antineuronal antibody testing was done in 6 of 12 non paraneoplastic and two paraneoplastic patients, one positive for N-methyl-D-aspartate and one for anti-Hu antibody. MRI brain showed typical fluid attenuated inversion recovery or T2 bilateral temporal lobe hyperintensities in 50% of patients. At a mean follow-up of 21 months (3-36 months, 10 patients improved, 4 patients remained same and two patients expired. Conclusion: Early recognition of LE is important based upon clinical, MRI data in the absence of antineuronal surface antibody screen in developing nations. Early institution of immunotherapy will help in improvement in outcome of

  3. Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy.

    Directory of Open Access Journals (Sweden)

    Emma W Viscidi

    Full Text Available To estimate the prevalence of epilepsy in children with Autism Spectrum Disorder (ASD and to determine the demographic and clinical characteristics of children with ASD and epilepsy in a large patient population.Cross-sectional study using four samples of children with ASD for a total of 5,815 participants with ASD. The prevalence of epilepsy was estimated from a population-based sample. Children with and without epilepsy were compared on demographic and clinical characteristics. Multivariate logistic regression was used to examine the association between demographic and clinical characteristics and epilepsy.The average prevalence of epilepsy in children with ASD 2-17 years was 12.5%; among children aged 13 years and older, 26% had epilepsy. Epilepsy was associated with older age, lower cognitive ability, poorer adaptive and language functioning, a history of developmental regression and more severe ASD symptoms. The association between epilepsy and the majority of these characteristics appears to be driven by the lower IQ of participants with epilepsy. In a multivariate regression model, only age and cognitive ability were independently associated with epilepsy. Children age 10 or older had 2.35 times the odds of being diagnosed with epilepsy (p<.001 and for a one standard deviation increase in IQ, the odds of having epilepsy decreased by 47% (p<.001.This is among the largest studies to date of patients with ASD and co-occurring epilepsy. Based on a representative sample of children with ASD, the average prevalence of epilepsy is approximately 12% and reaches 26% by adolescence. Independent associations were found between epilepsy and older age and lower cognitive ability. Other risk factors, such as poor language and developmental regression, are not associated with epilepsy after controlling for IQ. These findings can help guide prognosis and alert clinicians to patients with ASD who are at increased risk for epilepsy.

  4. Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

    Science.gov (United States)

    Touzot, Fabien; Kermasson, Laetitia; Jullien, Laurent; Moshous, Despina; Ménard, Christelle; Ikincioğullari, Aydan; Doğu, Figen; Sari, Sinan; Giacobbi-Milet, Vannina; Etzioni, Amos; Soulier, Jean; Londono-Vallejo, Arturo; Fischer, Alain; Callebaut, Isabelle; de Villartay, Jean-Pierre; Leblanc, Thierry; Kannengiesser, Caroline; Revy, Patrick

    2016-11-29

    Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from being recognized as DNA breaks by the DNA repair machinery. RTEL1 is a DNA helicase required for proper telomere replication and stability. In particular, it has been postulated that RTEL1 is involved in the opening of the T-loop during telomere replication to avoid sudden telomere deletion and telomere circle (T-circle) formation. In humans, biallelic RTEL1 mutations cause Hoyeraal-Hreidarsson syndrome (HH), a rare and severe telomere biology disorder characterized by intrauterine growth retardation, bone marrow failure, microcephaly and/or cerebellar hypoplasia, and immunodeficiency. To date, 18 different RTEL1 mutations have been described in 19 cases of HH with short telomeres. The impaired T-loop resolution has been proposed to be a major cause of telomere shortening in RTEL1 deficiency. However, the biological and clinical consequences of this disorder remain incompletely documented. Here, we describe 4 new patients harboring biallelic RTEL1 mutations, including 2 novel missense mutations located in the C-terminal end of RTEL1 (p.Cys1268Arg and p.Val1294Phe). Clinical characteristics from these 4 patients were collected as those from 4 other RTEL1-deficient patients previously reported. In addition, we assessed whether T-circles, the product of improper T-loop resolution, were detected in our RTEL1-deficient patients. Overall, our study broadens and refines the clinical and biological spectrum of human RTEL1 deficiency.

  5. Factors that influence career progression among postdoctoral clinical academics: a scoping review of the literature

    Science.gov (United States)

    Ranieri, Veronica; Barratt, Helen; Fulop, Naomi; Rees, Geraint

    2016-01-01

    Background The future of academic medicine is uncertain. Concerns regarding the future availability of qualified and willing trainee clinical academics have been raised worldwide. Of significant concern is our failure to retain postdoctoral trainee clinical academics, who are likely to be our next generation of leaders in scientific discovery. Objectives To review the literature about factors that may influence postdoctoral career progression in early career clinical academics. Design This study employed a scoping review method. Three reviewers separately assessed whether the articles found fit the inclusion criteria. Data sources PubMed, Scopus, Web of Science and Google Scholar (1991–2015). Article selection The review encompassed a broad search of English language studies published anytime up to November 2015. All articles were eligible for inclusion, including research papers employing either quantitative or qualitative methods, as well as editorials and other summary articles. Data extraction Data extracted from included publications were charted according to author(s), sample population, study design, key findings, country of origin and year of publication. Results Our review identified 6 key influences: intrinsic motivation, work–life balance, inclusiveness, work environment, mentorship and availability of funding. It also detected significant gaps within the literature about these influences. Conclusions Three key steps are proposed to help support postdoctoral trainee clinical academics. These focus on ensuring that researchers feel encouraged in their workplace, involved in collaborative dialogue with key stakeholders and able to access reliable information regarding their chosen career pathway. Finally, we highlight recommendations for future research. PMID:27798036

  6. Pediatric obesity pharmacotherapy: current state of the field, review of the literature and clinical trial considerations.

    Science.gov (United States)

    Kelly, A S; Fox, C K; Rudser, K D; Gross, A C; Ryder, J R

    2016-07-01

    Despite the increasing number of medications recently approved to treat obesity among adults, few agents have been formally evaluated in children or adolescents for this indication. Moreover, there is a paucity of guidance in the literature addressing best practices with regard to pediatric obesity pharmacotherapy clinical trial design, and only general recommendations have been offered by regulatory agencies on this topic. The purposes of this article are to (1) offer a background of the current state of the field of pediatric obesity medicine, (2) provide a brief review of the literature summarizing pediatric obesity pharmacotherapy clinical trials, and (3) highlight and discuss some of the unique aspects that should be considered when designing and conducting high-quality clinical trials evaluating the safety and efficacy of obesity medications in children and adolescents. Suggestions are offered in the areas of target population and eligibility criteria, clinical trial end-point selection, trial duration, implementation of lifestyle modification therapy and recruitment and retention of participants. Efforts should be made to design and conduct trials appropriately to ensure that high-quality evidence is generated on the safety and efficacy of various medications used to treat pediatric obesity.

  7. Evaluating clinical ethics support in mental healthcare: a systematic literature review.

    Science.gov (United States)

    Hem, Marit Helene; Pedersen, Reidar; Norvoll, Reidun; Molewijk, Bert

    2015-06-01

    A systematic literature review on evaluation of clinical ethics support services in mental healthcare is presented and discussed. The focus was on (a) forms of clinical ethics support services, (b) evaluation of clinical ethics support services, (c) contexts and participants and (d) results. Five studies were included. The ethics support activities described were moral case deliberations and ethics rounds. Different qualitative and quantitative research methods were utilized. The results show that (a) participants felt that they gained an increased insight into moral issues through systematic reflection; (b) there was improved cooperation among multidisciplinary team members; (c) it was uncertain whether clinical ethics support services led to better patient care; (d) the issue of patient and client participation is complex; and (e) the implementation process is challenging. Clinical ethics support services have mainly been studied through the experiences of the participating facilitators and healthcare professionals. Hence, there is limited knowledge of whether and how various types of clinical ethics support services influence the quality of care and how patients and relatives may evaluate clinical ethics support services. Based on the six excluded 'grey zone articles', in which there was an implicit focus on ethics reflection, other ways of working with ethical reflection in practice are discussed. Implementing and evaluating clinical ethics support services as approaches to clinical ethics support that are more integrated into the development of good practice are in focus. In order to meet some of the shortcomings of the field of clinical ethics support services, a research project that aims to strengthen ethics support in the mental health services, including patients' and caregivers' views on ethical challenges, is presented. © The Author(s) 2014.

  8. Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex; Case reports and review of literature

    Directory of Open Access Journals (Sweden)

    Amna Al-Futaisi

    2016-11-01

    Full Text Available Tuberous sclerosis complex (TSC is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis. We report three children who presented to the Sultan Qaboos University Hospital, Muscat, Oman, between 2014 and 2015 with ASD and TSC. These cases demonstrate the spectrum of neuropsychiatric involvement in TSC and highlight the importance of screening children with TSC for ASD features in order to encourage the early enrolment of these children in educational and rehabilitation programmes.

  9. Modifiable influences on female HPV vaccine uptake at the clinic encounter level: a literature review.

    Science.gov (United States)

    Small, Stephanie L; Sampselle, Carolyn M; Martyn, Kristy K; Dempsey, Amanda F

    2014-09-01

    A review of the literature to identify modifiable influences on female human papillomavirus (HPV) vaccine uptake relevant to clinical practice in order to support nurse practitioners (NPs) in the prevention of cervical cancer. PubMed, CINAHL, reference lists of publications that surfaced in the electronic search. Six influences are modifiable and potentially amenable to being addressed at the clinic encounter level: (a) cost and insurance coverage, (b) provider recommendation, (c) vaccination opportunity, (d) HPV and HPV vaccine knowledge, (e) vaccine safety concerns, and (f) HPV risk. NPs have an important role in improving HPV vaccine uptake and research suggests several areas they can address to increase vaccination during clinic visits. ©2013 American Association of Nurse Practitioners.

  10. Hypertrophic pachymeningitis: Current criteria for diagnosis and differentiation (Clinical case and review of literature

    Directory of Open Access Journals (Sweden)

    E. G. Mendelevich

    2015-01-01

    Full Text Available The paper describes a 44-year-old male patient with an about 6-year history of hypertrophic pachymeningitis. The major clinical symptoms were characterized by headache, exophthalmos, and blindness in one eye. The data for differential diagnosis of the disease are given. The current literature on the clinical manifestations of hypertrophic pachymeningitis, its differential diagnosis, and the results of magnetic resonance imaging (MRI is reviewed. Diagnostic difficulties at the stage of a clinical observation are due to the nonspecificity of neurological manifestations and the need for a comprehensive examination to detect a somatic disease. MRI can diagnose the disease-specific phenomenon of damage to the meninges, which calls for further careful differentiation. Clinicians must be familiar with alternative differential diagnosis, as a rapid specific therapeutic approach will help avoid long-term or irreversible neurological complications.

  11. Toward an Interdisciplinary Understanding of Sensory Dysfunction in Autism Spectrum Disorder: An Integration of the Neural and Symptom Literatures

    OpenAIRE

    Schauder, Kimberly B.; Bennetto, Loisa

    2016-01-01

    Sensory processing differences have long been associated with autism spectrum disorder (ASD), and they have recently been added to the diagnostic criteria for the disorder. The focus on sensory processing in ASD research has increased substantially in the last decade. This research has been approached from two different perspectives: the first focuses on characterizing the symptoms that manifest in response to real world sensory stimulation, and the second focuses on the neural pathways and m...

  12. Mobile clinical decision support systems and applications: a literature and commercial review.

    Science.gov (United States)

    Martínez-Pérez, Borja; de la Torre-Díez, Isabel; López-Coronado, Miguel; Sainz-de-Abajo, Beatriz; Robles, Montserrat; García-Gómez, Juan Miguel

    2014-01-01

    The latest advances in eHealth and mHealth have propitiated the rapidly creation and expansion of mobile applications for health care. One of these types of applications are the clinical decision support systems, which nowadays are being implemented in mobile apps to facilitate the access to health care professionals in their daily clinical decisions. The aim of this paper is twofold. Firstly, to make a review of the current systems available in the literature and in commercial stores. Secondly, to analyze a sample of applications in order to obtain some conclusions and recommendations. Two reviews have been done: a literature review on Scopus, IEEE Xplore, Web of Knowledge and PubMed and a commercial review on Google play and the App Store. Five applications from each review have been selected to develop an in-depth analysis and to obtain more information about the mobile clinical decision support systems. Ninety-two relevant papers and 192 commercial apps were found. Forty-four papers were focused only on mobile clinical decision support systems. One hundred seventy-one apps were available on Google play and 21 on the App Store. The apps are designed for general medicine and 37 different specialties, with some features common in all of them despite of the different medical fields objective. The number of mobile clinical decision support applications and their inclusion in clinical practices has risen in the last years. However, developers must be careful with their interface or the easiness of use, which can impoverish the experience of the users.

  13. Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency

    DEFF Research Database (Denmark)

    Bay, Jakob Thaning; Katzenstein, Terese Lea; Kofoed, Kristian

    2015-01-01

    presentation of Factor I deficiency varies and includes severe recurrent bacterial infections, glomerulonephritis and autoimmune diseases. The patient, a 28-years old woman with consanguineous parents, presented with recurrent leukocytoclastic vasculitis in the lower extremities with no associated systemic...... mutations vary among patients sole association with leukocytoclastic vasculitis redefines the clinical spectrum of complete Factor I deficiency....

  14. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

    DEFF Research Database (Denmark)

    Hove, Marianne N; Kilic-Biyik, Kevser Z; Trotter, Alana

    2016-01-01

    Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from...

  15. Parent Stress in a Randomized Clinical Trial of Atomoxetine and Parent Training for Children with Autism Spectrum Disorder

    Science.gov (United States)

    Lecavalier, Luc; Pan, Xueliang; Smith, Tristram; Handen, Benjamin L.; Arnold, L. Eugene; Silverman, Laura; Tumuluru, Rameshwari V.; Hollway, Jill; Aman, Michael G.

    2018-01-01

    We previously reported a 2 × 2 randomized clinical trial of atomoxetine (ATX) and parent training (PT) for attention deficit hyperactivity disorder (ADHD) symptoms and behavioral noncompliance in 128 children with autism spectrum disorder, ages 5-14 years. Children were randomized to one of four conditions: ATX alone, placebo alone, ATX + PT, or…

  16. Health Related Quality of Life in Children with Autism Spectrum Disorders: The Clinical and Demographic Related Factors in Turkey

    Science.gov (United States)

    Kose, Sezen; Erermis, Serpil; Ozturk, Onder; Ozbaran, Burcu; Demiral, Nagehan; Bildik, Tezan; Aydin, Cahide

    2013-01-01

    We aimed to investigate the Health Related Quality of Life and related clinical variables (HRQoL) of children with Autism Spectrum Disorders (ASD). We included 102 children with ASD (46 with autism, 38 with pervasive developmental disorder not otherwise specified (PDD-NOS) and 18 with Asperger's syndrome (AS)) and 39 typically developing children…

  17. 76 FR 72957 - 4th Annual Trauma Spectrum Conference: Bridging the Gap Between Research and Clinical Practice of...

    Science.gov (United States)

    2011-11-28

    ... Conference: Bridging the Gap Between Research and Clinical Practice of Psychological Health and Traumatic... is hereby given of the ``4th Annual Trauma Spectrum Conference: Bridging the Gap Between Research and... Health (NIH), Bethesda, Maryland. This year's event focuses on bridging the gap between research and...

  18. Demographic and Clinical Characteristics Associated with Engagement in Behavioral Health Treatment among Children with Autism Spectrum Disorders

    Science.gov (United States)

    Croen, Lisa A.; Shankute, Naomi; Davignon, Meghan; Massolo, Maria L.; Yoshida, Cathleen

    2017-01-01

    This study investigates demographic and clinical factors associated with initiation, continuation, and adherence to behavioral health treatment (BHT) among children with autism spectrum disorder. Among 293 insured children referred for applied behavior analysis (ABA) based BHT, 23% never initiated treatment. Among those initiating treatment, 31%…

  19. Psychiatric Comorbidity and Functioning in a Clinically Referred Population of Adults with Autism Spectrum Disorders: A Comparative Study

    Science.gov (United States)

    Joshi, Gagan; Wozniak, Janet; Petty, Carter; Martelon, Mary Kate; Fried, Ronna; Bolfek, Anela; Kotte, Amelia; Stevens, Jonathan; Furtak, Stephannie L.; Bourgeois, Michelle; Caruso, Janet; Caron, Ashley; Biederman, Joseph

    2013-01-01

    To systematically examine the patterns of psychiatric comorbidity and functioning in clinically referred adults with autism spectrum disorders (ASD). Psychiatrically referred adults with and without ASD were compared on measures assessing for psychiatric comorbidity and psychosocial functioning. Sixty-three adults with ASD participated in the…

  20. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

    OpenAIRE

    Moreno-Igoa, María; Hernández-Charro, Blanca; Bengoa-Alonso, Amaya; Pérez-Juana-del-Casal, Aranzazu; Romero-Ibarra, Carlos; Nieva-Echebarria, Beatriz; Ramos-Arroyo, María Antonia

    2015-01-01

    Background Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display the major clinical features of 17q21.31 microdeletion syndrome. However, they did not exhibit the full clinical spectrum of this disorder, which might indicate that an additional gene or genes, located in ...

  1. Pain clinic definitions in the medical literature and U.S. state laws: an integrative systematic review and comparison.

    Science.gov (United States)

    Andraka-Christou, Barbara; Rager, Joshua B; Brown-Podgorski, Brittany; Silverman, Ross D; Watson, Dennis P

    2018-05-22

    In response to widespread opioid misuse, ten U.S. states have implemented regulations for facilities that primarily manage and treat chronic pain, called "pain clinics." Whether a clinic falls into a state's pain clinic definition determines the extent to which it is subject to oversight. It is unclear whether state pain clinic definitions model those found in the medical literature, and potential differences lead to discrepancies between scientific and professionally guided advice found in the medical literature and actual pain clinic practice. Identifying discrepancies could assist states to design laws that are more compatible with best practices suggested in the medical literature. We conducted an integrative systematic review to create a taxonomy of pain clinic definitions using academic medical literature. We then identified existing U.S. state pain clinic statutes and regulations and compared the developed taxonomy using a content analysis approach to understand the extent to which medical literature definitions are reflected in state policy. In the medical literature, we identified eight categories of pain clinic definitions: 1) patient case mix; 2) single-modality treatment; 3) multidisciplinary treatment; 4) interdisciplinary treatment; 5) provider supervision; 6) provider composition; 7) marketing; and 8) outcome. We identified ten states with pain clinic laws. State laws primarily include the following definitional categories: patient case mix; single-modality treatment, and marketing. Some definitional categories commonly found in the medical literature, such as multidisciplinary treatment and interdisciplinary treatment, rarely appear in state law definitions. This is the first study to our knowledge to develop a taxonomy of pain clinic definitions and to identify differences between pain clinic definitions in U.S. state law and medical literature. Future work should explore the impact of different legal pain clinic definitions on provider decision

  2. Clinical characteristics of autism spectrum disorder in Israel: impact of ethnic and social diversities.

    Science.gov (United States)

    Mahajnah, Muhammad; Sharkia, Rajech; Shalabe, Haitham; Terkel-Dawer, Ruth; Akawi, Ashraf; Zelnik, Nathanel

    2015-01-01

    Despite the increased global prevalence and recognition of autistic spectrum disorder (ASD), it is still scarcely reported in the Arab world. Though Israel has a higher prevalence of ASD, a previous national survey of patients diagnosed between 1972 and 2004, demonstrated that 98% of them were of Jewish ancestry. The disproportional low number of Arab children with ASD in Israel is unclear but may reflect lower awareness and cultural bias. In the present study we collected clinical and demographic characteristics of 200 children with ASD from Arab and Jewish sectors in Israel that were evaluated in two child development centers. We compared the incidence and the medical comorbidity of autism between these two ethnics groups. The medical and psychiatric comorbidity profile in these children was similar to the worldwide published studies. In the present study the prevalence of autism in the Arab sector in Israel was similar to that of the Jewish sector. The Arab patients presented with more severe autistic manifestations and higher incidence of mental retardation, familial members with autism, and consanguinity (P < 0.05), while in the Jewish sector milder forms (such as Asperger syndrome and PDD-NOS) were more frequent. This discrepancy might be explained by both genetic and cultural factors.

  3. Clinical and Cognitive Characteristics Associated with Mathematics Problem Solving in Adolescents with Autism Spectrum Disorder.

    Science.gov (United States)

    Oswald, Tasha M; Beck, Jonathan S; Iosif, Ana-Maria; McCauley, James B; Gilhooly, Leslie J; Matter, John C; Solomon, Marjorie

    2016-04-01

    Mathematics achievement in autism spectrum disorder (ASD) has been understudied. However, the ability to solve applied math problems is associated with academic achievement, everyday problem-solving abilities, and vocational outcomes. The paucity of research on math achievement in ASD may be partly explained by the widely-held belief that most individuals with ASD are mathematically gifted, despite emerging evidence to the contrary. The purpose of the study was twofold: to assess the relative proportions of youth with ASD who demonstrate giftedness versus disability on applied math problems, and to examine which cognitive (i.e., perceptual reasoning, verbal ability, working memory) and clinical (i.e., test anxiety) characteristics best predict achievement on applied math problems in ASD relative to typically developing peers. Twenty-seven high-functioning adolescents with ASD and 27 age- and Full Scale IQ-matched typically developing controls were assessed on standardized measures of math problem solving, perceptual reasoning, verbal ability, and test anxiety. Results indicated that 22% of the ASD sample evidenced a mathematics learning disability, while only 4% exhibited mathematical giftedness. The parsimonious linear regression model revealed that the strongest predictor of math problem solving was perceptual reasoning, followed by verbal ability and test anxiety, then diagnosis of ASD. These results inform our theories of math ability in ASD and highlight possible targets of intervention for students with ASD struggling with mathematics. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

  4. Hoarding in Youth with Autism Spectrum Disorders and Anxiety: Incidence, Clinical Correlates, and Behavioral Treatment Response.

    Science.gov (United States)

    Storch, Eric A; Nadeau, Joshua M; Johnco, Carly; Timpano, Kiara; McBride, Nicole; Jane Mutch, P; Lewin, Adam B; Murphy, Tanya K

    2016-05-01

    This study examined the nature and correlates of hoarding among youth with autism spectrum disorders (ASD). Forty children with ASD and a comorbid anxiety disorder were administered a battery of clinician-administered measures assessing presence of psychiatric disorders and anxiety severity. Parents completed questionnaires related to child hoarding behaviors, social responsiveness, internalizing and externalizing behaviors, and functional impairment. We examined the impact of hoarding behaviors on treatment response in a subsample of twenty-six youth who completed a course of personalized cognitive-behavioral therapy targeting anxiety symptoms. Hoarding symptoms were common and occurred in a clinically significant manner in approximately 25 % of cases. Overall hoarding severity was associated with increased internalizing and anxiety/depressive symptoms, externalizing behavior, and attention problems. Discarding items was associated with internalizing and anxious/depressive symptoms, but acquisition was not. Hoarding decreased following cognitive-behavioral therapy but did not differ between treatment responders and non-responders. These data are among the first to examine hoarding among youth with ASD; implications of study findings and future directions are highlighted.

  5. Clinical Characteristics of Autism Spectrum Disorder in Israel: Impact of Ethnic and Social Diversities

    Directory of Open Access Journals (Sweden)

    Muhammad Mahajnah

    2015-01-01

    Full Text Available Despite the increased global prevalence and recognition of autistic spectrum disorder (ASD, it is still scarcely reported in the Arab world. Though Israel has a higher prevalence of ASD, a previous national survey of patients diagnosed between 1972 and 2004, demonstrated that 98% of them were of Jewish ancestry. The disproportional low number of Arab children with ASD in Israel is unclear but may reflect lower awareness and cultural bias. In the present study we collected clinical and demographic characteristics of 200 children with ASD from Arab and Jewish sectors in Israel that were evaluated in two child development centers. We compared the incidence and the medical comorbidity of autism between these two ethnics groups. The medical and psychiatric comorbidity profile in these children was similar to the worldwide published studies. In the present study the prevalence of autism in the Arab sector in Israel was similar to that of the Jewish sector. The Arab patients presented with more severe autistic manifestations and higher incidence of mental retardation, familial members with autism, and consanguinity (P<0.05, while in the Jewish sector milder forms (such as Asperger syndrome and PDD-NOS were more frequent. This discrepancy might be explained by both genetic and cultural factors.

  6. Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

    Science.gov (United States)

    Agolini, E; Dentici, M L; Bellacchio, E; Alesi, V; Radio, F C; Torella, A; Musacchia, F; Tartaglia, M; Dallapiccola, B; Nigro, V; Digilio, M C; Novelli, A

    2018-03-01

    Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). We report on 3 additional patients from 2 consanguineous families with severe/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in PRMT7. Our findings expand the clinical and molecular spectrum of homozygous PRMT7 mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Autistic spectrum disorders: A review of clinical features, theories and diagnosis.

    Science.gov (United States)

    Fakhoury, Marc

    2015-06-01

    Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders that is among the most severe in terms of prevalence, morbidity and impact to the society. It is characterized by complex behavioral phenotype and deficits in both social and cognitive functions. Although the exact cause of ASD is still not known, the main findings emphasize the role of genetic and environmental factors in the development of autistic behavior. Environmental factors are also likely to interact with the genetic profile and cause aberrant changes in brain growth, neuronal development, and functional connectivity. The past few years have seen an increase in the prevalence of ASD, as a result of enhanced clinical tests and diagnostic tools. Despite growing evidence for the involvement of endogenous biomarkers in the pathophysiology of ASD, early detection of this disorder remains a big challenge. This paper describes the main behavioral and cognitive features of ASD, as well as the symptoms that differentiate autism from other developmental disorders. An attempt will be made to integrate all the available evidence which point to reduced brain connectivity, mirror neurons deficits, and inhibition-excitation imbalance in individuals with ASD. Finally, this review discusses the main factors involved in the pathophysiology of ASD, and illustrates some of the most important markers used for the diagnosis of this debilitating disorder. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.

    Science.gov (United States)

    Nagamani, Sandesh Chakravarthy Sreenath; Erez, Ayelet; Shen, Joseph; Li, Chumei; Roeder, Elizabeth; Cox, Sarah; Karaviti, Lefkothea; Pearson, Margret; Kang, Sung-Hae L; Sahoo, Trilochan; Lalani, Seema R; Stankiewicz, Pawel; Sutton, V Reid; Cheung, Sau Wai

    2010-03-01

    Deletions in chromosome 17q12 encompassing the HNF1 beta gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17q12 is rare and has been hypothesized to be associated with an increased risk of epilepsy and mental retardation. We conducted a detailed clinical and molecular characterization of four patients with a deletion and five patients with a reciprocal duplication of this region. Our patients with deletion of 17q12 presented with cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. Patients with reciprocal duplications manifest with cognitive impairment and behavioral abnormalities, but not with seizures. Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12.

  9. Clinical and imaging characteristics and autoantibody analysis of neuromyelitis optica spectrum disorders

    Directory of Open Access Journals (Sweden)

    Nan LIU

    2014-09-01

    Full Text Available Objective To observe the clinical and imaging characteristics and the changes of autoimmune antibodies in the serum and cerebrospinal fluid (CSF of patients with neuromyelitis optica spectrum disorders (NMOSDs.  Methods The data of 10 patients with NMOSDs in Aviation General Hospital of China Medical University from January 2011 to June 2014 were collected. The clinical and imaging features were retrospectively reviewed, and NMO-IgG in serum and CSF, anti-nuclear antibody (ANA, homocysteine (Hcy and thyroid function were analyzed.  Results Cranial and spinal MRI of these patients showed that brain stem was involved in 3 cases, cervical cord in 3 cases, thoracic cord in 6 cases, and cervical-thoracic cord in one case. Serum NMO-IgG were tested in 8 cases, among whom 3 patients were positive (3/8 and 5 were negative (5/8. ANA was positive in one case (1/3, and thyroglobulin (TG antibody and thyroid peroxidase (TPO antibody were positive in 2 cases (2/3. Hypothyroidism occured in 2 cases, hyperthyroidism occured in one case, and Hcy rised in 2 cases.  Conclusions NMOSDs frequently occur in young and middle-aged women. Patients who were highly suspected with NMOSDs should receive tests of autoimmune antibodies in the serum and CSF, and cranial and spinal MRI examination, in order to make a definite diagnosis and receive appropriate treatment. Retesting the autoimmune antibodies should be done in catabasis, in order to identify the relationship between autoimmune antibodies and NMOSDs. doi: 10.3969/j.issn.1672-6731.2014.09.010

  10. The clinical spectrum of idiopathic hyperuricosuria in children: Isolated and associated with hypercalciuria/hyperoxaluria

    Directory of Open Access Journals (Sweden)

    Kamal Akl

    2012-01-01

    Full Text Available The clinical manifestations of hyperuricosuria (HU are usually underestimated by the clinician. The aim of this study was to review the clinical spectrum of symptomatology of HU and to evaluate the presence of associated hypercalciuria (HC and hyperoxaluria (HX. A retrospective review was done on 64 children with HU seen between January 2004 and December 2008. The patients were divided into HU 19, HU + HC 4, HU + HX 21 and HU + HC + HX 20. The mean age at diagnosis was 80 months (range six to 156 months. Duration of follow-up ranged was from six to 66 months. There were 228 symptomatic episodes for 64 patients (males 31, females 33. The relationship of symptomatology to age and gender were not significant. The most common symptoms were abdominal pain 67.2% (in 7/44 it was localized to the right lower quadrant, mimicking appendicitis, flank pain 59.4%, increased urinary frequency 43.4%, urgency 39%, enuresis 31.25%, oliguria 29.7%, dysuria 25%, red urine 20.35%, vaginal itching 15.21%, dribbling 14.06%, orange urine 12.5%, hesitancy 12.5% and penile pain 7.81%. To our knowledge, the vaginal itching and penile pain were not previously described. Family history was positive for stones and/or gout in 62.5%. The presence of a positive family history and red urine were significant (P-value <0.05 for the presence of an underlying HU. In the presence of recurrent abdominal/flank pain, hematuria without proteinuria or edema and urological symptomatology, especially in the presence of red urine, and a positive family history of gout or stones, a search for HU is in order. This will avoid unnecessary and invasive investigations.

  11. Polymer coating embolism from intravascular medical devices - a clinical literature review.

    Science.gov (United States)

    Chopra, Amitabh M; Mehta, Monik; Bismuth, Jean; Shapiro, Maksim; Fishbein, Michael C; Bridges, Alina G; Vinters, Harry V

    Over the past three decades, lubricious (hydrophobic and/or hydrophilic) polymer-coated devices have been increasingly adopted by interventional physicians and vascular surgeons to access and treat a wider range of clinical presentations. Recent clinical literature highlights the presence of polymer coating emboli within the anatomy - a result of coating separation from an intravascular device - and associates it with a range of adverse clinical sequelae. The 2015 U.S. Food and Drug Administration safety communication titled "Lubricious Coating Separation from Intravascular Medical Devices" acknowledges these concerns and concludes that it will work with stakeholders to develop nonclinical test methodologies, establish performance criteria, and identify gaps in current national and international device standards for coating integrity performance. Despite this communication and multiple case reports from interventional physicians, pathologists, dermatologists and other involved physician specialties, polymer coating embolism remains clinically underrecognized. This article consolidates the available literature on polymer coating embolism (1986-2016) and highlights the following relevant information for the physician: (a) the history and elusive nature of polymer coating embolism; (b) potential incidence rates of this phenomenon; (c) reported histologic findings and clinical effects of polymer emboli in the anatomy; (d) the importance of the collaborative clinician-pathologist partnership to report polymer embolism findings; and (e) the importance to study particulate release from intravascular devices so as to further understand and potentially evolve coated interventional technologies. Preliminary research on coatings highlights the potential of using iterations of coatings on medical devices that attain the desired therapeutic result and mitigate or eliminate particulates altogether. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  12. Characteristic clinical features of Aspergillus appendicitis: Case report and literature review.

    Science.gov (United States)

    Gjeorgjievski, Mihajlo; Amin, Mitual B; Cappell, Mitchell S

    2015-11-28

    This work aims to facilitate diagnosing Aspergillus appendicitis, which can be missed clinically due to its rarity, by proposing a clinical pentad for Aspergillus appendicitis based on literature review and one new case. The currently reported case of pathologically-proven Aspergillus appendicitis was identified by computerized search of pathology database at William Beaumont Hospital, 1999-2014. Prior cases were identified by computerized literature search. Among 10980 pathology reports of pathologically-proven appendicitis, one case of Aspergillus appendicitis was identified (rate = 0.01%). A young boy with profound neutropenia, recent chemotherapy, and acute myelogenous leukemia presented with right lower quadrant pain, pyrexia, and generalized malaise. Abdominal computed tomography scan showed a thickened appendiceal wall and periappendiceal inflammation, suggesting appendicitis. Emergent laparotomy showed an inflamed, thickened appendix, which was resected. The patient did poorly postoperatively with low-grade-fevers while receiving antibacterial therapy, but rapidly improved after initiating amphotericin therapy. Microscopic examination of a silver stain of the appendectomy specimen revealed fungi with characteristic Aspergillus morphology, findings confirmed by immunohistochemistry. Primary Aspergillus appendicitis is exceptionally rare, with only 3 previously reported cases. All three cases presented with (1)-neutropenia, (2)-recent chemotherapy, (3)-acute leukemia, and (4)-suspected appendicitis; (5)-the two prior cases initially treated with antibacterial therapy, fared poorly before instituting anti-Aspergillus therapy. The current patient satisfied all these five criteria. Based on these four cases, a clinical pentad is proposed for Aspergillus appendicitis: clinically-suspected appendicitis, neutropenia, recent chemotherapy, acute leukemia, and poor clinical response if treated solely by antibacterial/anti-candidial therapy. Patients presenting with

  13. Oral Lichen Planus: Clinical Features, Etiology, Treatment and Management; A Review of Literature

    Directory of Open Access Journals (Sweden)

    Marzieh Boorghani

    2010-03-01

    Full Text Available Lichen planus is a chronic inflammatory mucocutaneous disease. Mucosal lesions are classified into six clinical forms and there is malignant potential for two forms of OLP; therefore, follow-up should be considered. There are many unestablished etiological factors for OLP and some different treatment modalities are based on etiology. The aims of current OLP therapy are to eliminate mucosal erythema and ulceration, alleviate symptoms and reduce the risk of oral cancer. We have used review papers, case reports, cohort studies, and case-and-control studies published from 1985 to 2010 to prepare this review of literature.

  14. Empowerment an essential ingredient in the clinical environment: a review of the literature.

    Science.gov (United States)

    Kennedy, Sara; Hardiker, Nicholas; Staniland, Karen

    2015-03-01

    Empowerment is an important concept worthy of attention in healthcare. The merits of empowerment are irrefutable including benefits to the organisation and to the individual nurse. Empowered nurses contribute to the clinical learning environment in a positive way. There is a dearth of literature on how or indeed if nursing students are empowered. The process of empowering registered staff/nursing students is not clear. Ward environment and culture are important contributors to patient care, patient safety and staff well-being. It is therefore necessary to address how empowerment can contribute positively to improving the environment in which care is provided. Copyright © 2014 Elsevier Ltd. All rights reserved.

  15. Madura foot: two case reports, review of the literature, and new developments with clinical correlation

    Energy Technology Data Exchange (ETDEWEB)

    White, Eric A. [University of Southern California, Department of Radiology, Los Angeles, CA (United States); Patel, Dakshesh B.; Forrester, Deborah M.; Gottsegen, Christopher J.; O' Rourke, Emily; Holtom, Paul; Charlton, Timothy; Matcuk, George R. [USC University Hospital, Los Angeles, CA (United States)

    2014-04-15

    ''Madura foot'' or pedal mycetoma is a rare destructive infection of the skin and subcutaneous tissues of the foot, progressing to involve muscle and bone. The infection can be caused by both bacteria and fungi. Infection typically follows traumatic implantation of bacteria or fungal spores, which are present in soil or on plant material. Clinically, this entity can be difficult to diagnose and can have an indolent and progressive course. Early diagnosis is important to prevent patient morbidity and mortality. We present two cases of pedal mycetoma, review the literature, review new developments in diagnosis, and discuss magnetic resonance imaging (MRI) features of this unusual entity. (orig.)

  16. A Spectrum of Nerve Injury after Thermal Ablation: A Report of Four Cases and Review of the Literature

    Energy Technology Data Exchange (ETDEWEB)

    Philip, Asher [The University of Texas Medical School (United States); Gupta, Sanjay, E-mail: sgupta@mdanderson.org; Ahrar, Kamran, E-mail: kahrar@mdanderson.org; Tam, Alda L., E-mail: alda.tam@di.mdacc.tmc.edu [The University of Texas, MD Anderson Cancer Center, Department of Diagnostic Radiology, Section of Interventional Radiology (United States)

    2013-10-15

    Thermal ablation is an accepted alternative for the palliation of pain from bone metastases. Although rare, neurologic complications after thermal ablation have been reported. We present four cases, including two cases of rapid reversal of postcryoablation neurapraxia after the administration of steroid therapy, and review the literature.

  17. Correlation between clinical performance and degree of conversion of resin cements: a literature review

    Directory of Open Access Journals (Sweden)

    Grace DE SOUZA

    2015-08-01

    Full Text Available AbstractResin-based cements have been frequently employed in clinical practice to lute indirect restorations. However, there are numerous factors that may compromise the clinical performance of those cements. The aim of this literature review is to present and discuss some of the clinical factors that may affect the performance of current resin-based luting systems. Resin cements may have three different curing mechanisms: chemical curing, photo curing or a combination of both. Chemically cured systems are recommended to be used under opaque or thick restorations, due to the reduced access of the light. Photo-cured cements are mainly indicated for translucent veneers, due to the possibility of light transmission through the restoration. Dual-cured are more versatile systems and, theoretically, can be used in either situation, since the presence of both curing mechanisms might guarantee a high degree of conversion (DC under every condition. However, it has been demonstrated that clinical procedures and characteristics of the materials may have many different implications in the DC of currently available resin cements, affecting their mechanical properties, bond strength to the substrate and the esthetic results of the restoration. Factors such as curing mechanism, choice of adhesive system, indirect restorative material and light-curing device may affect the degree of conversion of the cement and, therefore, have an effect on the clinical performance of resin-based cements. Specific measures are to be taken to ensure a higher DC of the luting system to be used.

  18. Longevity and clinical performance of IPS-Empress ceramic restorations--a literature review.

    Science.gov (United States)

    El-Mowafy, Omar; Brochu, Jean-François

    2002-04-01

    A literature review of longevity and clinical performance of IPS-Empress restorations is presented. A MEDLINE search was conducted in fall 2000. Selection criteria were set so as to identify suitable clinical trials that were published in full and that had lasted more than 2 years. A total of 6 clinical trials on the performance of IPS-Empress inlays and onlays and a total of 3 clinical trials on the performance of IPS-Empress crowns were identified. Survival rates for IPS-Empress inlays and onlays ranged from 96% at 4.5 years to 91% at 7 years; most failures were due to bulk fracture. IPS-Empress crowns had a survival rate ranging from 92% to 99% at 3 to 3.5 years; crown failure was also mainly due to fracture. Dentists should inform their patients about these survival rates when offering such treatment. The use of IPS-Empress crowns in the posterior of the mouth is not recommended until the results of more long-term clinical trials are available.

  19. The Clinical Spectrum of Plumbism; an Experience from a Tertiary Care Hospital in Karachi, Pakistan

    Directory of Open Access Journals (Sweden)

    Lena Jafri

    2017-12-01

    Full Text Available Background:Lead toxicity continues to remain a concerning health problem for developing nations like Pakistan. Due to the lack of studies, we aim to highlight the clinical spectrum of lead poisoning in patients presenting to an urban-based tertiary care hospital in Pakistan. Method:This is a retrospective review of patients admitted form January 2011 to December 2014 using a structured questionnaire for recording demographics, comorbidities, clinical findings, biochemical abnormalities, clinical findings and treatment provided. Patients were categorized as children (≤18yrs and adults (>18yrs, further divided into three groups; desired blood lead levels (BLLs [lead levels 70ug/dl]. Result: A total of 86 patients were included in the final analysis, majority (69.6% of whom were adult males with median age of 35 yrs. Median (IQR BLL was 6.3 ug/dl (12.8-2.7 in all age groups with BLL in children and adults of 4.2 ug/dl (3.1-5.7 and 6.5 ug/dl (2.6-14.7, respectively. 72% of the children had complaints related to the central nervous system with majority complaining of irritability. The gastrointestinal system was most commonly implicated in adults (93% with most common complaint of abdominal pain. The commonest risk factor showing a positive correlation with BLLs was battery handling in adults [median (IQR BLL 18.4ug/dl (8.35-36.1] and pica eating in children with BLLs in high but non-toxic range [median (IQR BLL 5.2ug/dl (2.7-5.7]. The highest BLLs were observed to lie within the high but non-toxic range group in one adult herbal medicine user (54.4 ug/dl and in children observed in the toxic range group (>10ug/dl due to occupational battery work exposure and residence in a congested zone.   Conclusion:Lead toxicity continues to be hazardous due to unchecked environmental and occupational exposure. Increasing awareness is tantamount in order to find a solution.

  20. Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

    Science.gov (United States)

    Belge, Hendrica; Dahan, Karin; Cambier, Jean-François; Benoit, Valérie; Morelle, Johann; Bloch, Julie; Vanhille, Philippe; Pirson, Yves; Demoulin, Nathalie

    2017-05-01

    Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized. We herein describe clinical and genetic features of patients with HDR syndrome, highlighting diagnostic clues. Medical records of eight patients from five unrelated families exhibiting GATA-3 mutations were reviewed retrospectively, in conjunction with all previously reported cases. HDR syndrome was diagnosed in eight patients between the ages of 18 and 60 years. Sensorineural deafness was consistently diagnosed, ranging from clinical hearing loss since infancy in seven patients to deafness detected only by audiometry in adulthood in one single patient. Hypoparathyroidism was present in six patients (with hypocalcaemia and inaugural seizures in two out of six). Renal abnormalities observed in six patients were diverse and of dysplastic nature. Three patients displayed nephrotic-range proteinuria and reached end-stage renal disease (ESRD) between the ages of 19 and 61 years, whilst lesions of focal and segmental glomerulosclerosis were histologically demonstrated in one of them. Interestingly, phenotype severity differed significantly between a mother and son within one family. Five new mutations of GATA-3 were identified, including three missense mutations affecting zinc finger motifs [NM_001002295.1: c.856A>G (p.N286D) and c.1017C>G (p.C339W)] or the conserved linker region [c.896G>A (p.R299G)], and two splicing mutations (c.924+4_924+19del and c.1051-2A>G). Review of 115 previously reported cases of GATA-3 mutations showed hypoparathyroidism and deafness in 95% of patients, and renal abnormalities in only 60%. Overall, 10% of patients had reached ESRD. We herein expand the clinical and mutational spectrum of HDR syndrome, illustrating considerable inter- and intrafamilial phenotypic variability. Diagnosis of HDR should be

  1. A Prospective Study on the Clinical and Microbiological Spectrum of Endophthalmitis in a Specific Region in Denmark

    DEFF Research Database (Denmark)

    Solborg Bjerrum, Søren; Hamoudi, Hassan; Friis-Møller, Alice

    2016-01-01

    PURPOSE: To study the clinical and microbiological spectrum of endophthalmitis with emphasis on clinical features, visual outcomes and risks of surgical complications. METHODS: A prospective observational study was conducted between 2012 and 2013 in a specific region in Denmark. Patients were...... clinically examined before, during and after surgical intervention for endophthalmitis. RESULTS: Fifty eyes with endophthalmitis were included. Endophthalmitis after cataract surgery (post-cataract), anti-VEGF (vascular endothelial growth factor) intravitreal injections (post-injection) and cases...... of endogenous endophthalmitis were responsible for 40, 28 and 18% of all cases, respectively. There was no difference in the microbiological spectrum in post-cataract patients and post-injection patients, but patients with post-cataract endophthalmitis presented statistically significantly more frequently...

  2. Clinical, biological, histological features and treatment of oral mucositis induced by radiation therapy: a literature review

    International Nuclear Information System (INIS)

    Bonan, Paulo Rogerio Ferreti; Lopes, Marcio Ajudarte; Almeida, Oslei Paes de; Alves, Fabio de Abreu

    2005-01-01

    The oral mucositis is a main side effect of radiotherapy on head and neck, initiating two weeks after the beginning of the treatment. It is characterized by sensation of local burning to intense pain, leading in several cases, to the interruption of the treatment. The purpose of this work is to review the main published studies that discuss the clinical, biological and histopathological features of oral mucositis induced by radiation therapy and to describe the main approaches recommended to prevent or to treat it. Although the clinical features of mucositis are intensively described in the literature, few studies address the histopathological alterations in oral mucositis and only recently, its biological processes have been investigated. The biological mechanisms involved in the radiation tissue damage have been only recently discussed and there is no consensus among treatment modalities. Yet, the progressive knowledge in the histopathology and biological characteristics of oral mucositis probably will lead to more effective in prevention and control strategies. (author)

  3. [Acute neonatal suppurative parotiditis: about three clinical cases and review of the literature].

    Science.gov (United States)

    Isfaoun, Zineb; Radouani, Mohammed Amine; Azzaoui, Sihame; Knouni, Houria; Aguenaou, Hassan; Barkat, Amina

    2016-01-01

    The following case study reports three cases of neonatal bacterial parotiditis observed over a period of seven months. Diagnosis is often based on patient's clinical features: they typically include hyperthermia, swelling, erythema, warmth as well as local tenderness and purulent discharge at Stensen duct during the massage of the parotid. The clinical diagnosis is confirmed by ultrasound and by culture of parotid purulent secretion. They are mainly of nosocomial origin and are generally caused by prematurity and dehydration. Early treatment improves patient outcome. Risk factors such as age should lead clinicians to start empiric antibiotic therapy first and then antibiotic therapy based on direct examination of pus extracted from Stensen duct. Staphylococcus aureus, Streptococcus Viridans and anaerobic germs are most commonly isolated. Acute parotiditis are extremely rare in the neonatal period: less than 50 cases have been reported in the literature. We here report three rather peculiar cases. The diagnosis was suspected on the basis of signs of local inflammation.

  4. Ameloblastic fibro-odontoma in children. Clinical aspects and review of the literature

    Directory of Open Access Journals (Sweden)

    Marcello Augello

    2017-06-01

    Full Text Available The ameloblastic fibro-odontoma (AFO is a rare mixed odontogenic tumor. Clinically AFO presents as a hamartoma or immature odontoma. The AFO is a well-encapsulated, painless, slow-growing and expanding tumor in young patients. Histologically, it has been classified as an ameloblastic fibroma or odontoma. Despite numerous efforts, there is still considerable confusion concerning the nature, the histology and the surgical therapy of this lesion. However, it can present with progressive growth causing bone destruction and significant deformity. The transformation of AFO in sarcoma is also known and extremely rare. Therefore a long term follow up is recommended. Enucleation still remains the gold standard. We are discussing our experience with AFO focused on children in clinical and surgical features and reviewing the relevant literature.

  5. International clinical placements for Australian undergraduate nursing students: A systematic thematic synthesis of the literature.

    Science.gov (United States)

    Browne, Caroline A; Fetherston, Catherine M; Medigovich, Kristina

    2015-10-01

    International clinical placements provide undergraduate nursing students with the opportunity to experience or practice nursing care in diverse countries, settings, and cultures. This systematic review aims to ascertain the current knowledge on international clinical placements offered by undergraduate nursing programs in Australia. It seeks to explore three questions: (1) How have previous experiences of nursing students' international clinical placements been described? (2) How have participants and stakeholders determined if the placement has been successful? And (3) What benefits or challenges have been identified by stakeholders as a result of participating in international clinical placements? A systematic thematic synthesis was undertaken. A search of electronic databases including CINAHL, Proquest Central, Scopus, PubMed, and Health Collection was undertaken between September and October 2014. Key terms including 'international clinical placement', 'study abroad', 'international exchange', 'nursing', and 'Australia' were used to identify articles that appeared in peer-reviewed English language journals and that explored international clinical placements offered to undergraduate nursing students by Australian universities. Eight studies were identified that meet the inclusion criteria, and through thematic analysis, five key themes were identified including developing cultural awareness and competence, providing a global perspective on health care, translation of theory to practice, growing personally through reflection, and overcoming apprehension to successfully meet the challenge. A comparison search of literature from Canada and the United Kingdom revealed that similar themes occurred internationally. Although personal successes were identified by students undertaking international clinical placement, further research is required to identify all stakeholder experiences including those of the educators, the educational institutions, and travel providers

  6. Factors that influence career progression among postdoctoral clinical academics: a scoping review of the literature.

    Science.gov (United States)

    Ranieri, Veronica; Barratt, Helen; Fulop, Naomi; Rees, Geraint

    2016-10-21

    The future of academic medicine is uncertain. Concerns regarding the future availability of qualified and willing trainee clinical academics have been raised worldwide. Of significant concern is our failure to retain postdoctoral trainee clinical academics, who are likely to be our next generation of leaders in scientific discovery. To review the literature about factors that may influence postdoctoral career progression in early career clinical academics. This study employed a scoping review method. Three reviewers separately assessed whether the articles found fit the inclusion criteria. PubMed, Scopus, Web of Science and Google Scholar (1991-2015). The review encompassed a broad search of English language studies published anytime up to November 2015. All articles were eligible for inclusion, including research papers employing either quantitative or qualitative methods, as well as editorials and other summary articles. Data extracted from included publications were charted according to author(s), sample population, study design, key findings, country of origin and year of publication. Our review identified 6 key influences: intrinsic motivation, work-life balance, inclusiveness, work environment, mentorship and availability of funding. It also detected significant gaps within the literature about these influences. Three key steps are proposed to help support postdoctoral trainee clinical academics. These focus on ensuring that researchers feel encouraged in their workplace, involved in collaborative dialogue with key stakeholders and able to access reliable information regarding their chosen career pathway. Finally, we highlight recommendations for future research. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  7. Which positive factors determine the GP satisfaction in clinical practice? A systematic literature review.

    Science.gov (United States)

    Le Floch, B; Bastiaens, H; Le Reste, J Y; Lingner, H; Hoffman, R D; Czachowski, S; Assenova, R; Koskela, T H; Klemenc-Ketis, Z; Nabbe, P; Sowinska, A; Montier, T; Peremans, L

    2016-09-13

    Looking at what makes General Practitioners (GPs) happy in their profession, may be important in increasing the GP workforce in the future. The European General Practice Research Network (EGPRN) created a research team (eight national groups) in order to clarify the factors involved in GP job satisfaction throughout Europe. The first step of this study was a literature review to explore how the satisfaction of GPs had been studied before. The research question was "Which factors are related to GP satisfaction in Clinical Practice?" Systematic literature review according to the PRISMA statement. The databases searched were Pubmed, Embase and Cochrane. All articles were identified, screened and included by two separate research teams, according to inclusion or exclusion criteria. Then, a qualitative appraisal was undertaken. Next, a thematic analysis process was undertaken to capture any issue relevant to the research question. The number of records screened was 458. One hundred four were eligible. Finally, 17 articles were included. The data revealed 13 subthemes, which were grouped into three major themes for GP satisfaction. First there were general profession-related themes, applicable to many professions. A second group of issues related specifically to a GP setting. Finally, a third group was related to professional life and personal issues. A number of factors leading to GP job satisfaction, exist in literature They should be used by policy makers within Europe to increase the GP workforce. The research team needs to undertake qualitative studies to confirm or enhance those results.

  8. Methamphetamine: An Update on Epidemiology, Pharmacology, Clinical Phenomenology, and Treatment Literature

    Science.gov (United States)

    Courtney, Kelly E.; Ray, Lara A.

    2014-01-01

    Background Despite initial reports of a decline in use in the early 2000s, methamphetamine remains a significant public health concern with known neurotoxic and neurocognitive effects to the user. The goal of this review is to update the literature on methamphetamine use and addiction since its assent to peak popularity in 1990s. Methods Specifically, we first review recent epidemiological reports with a focus on methamphetamine accessibility, changes in use and disorder prevalence rates over time, and accurate estimates of the associated burden of care to the individual and society. Second, we review methamphetamine pharmacology literature with emphasis on the structural and functional neurotoxic effects associated with repeated use of the drug. Third, we briefly outline the findings on methamphetamine-related neurocognitive deficits as assessed via behavioral and neuroimaging paradigms. Lastly, we review the clinical presentation of methamphetamine addiction and the evidence supporting the available psychosocial and pharmacological treatments within the context of an addiction biology framework. Conclusion Taken together, this review provides a broad-based update of the available literature covering methamphetamine research over the past two decades and concludes with recommendations for future research. PMID:25176528

  9. Data-driven analysis of biomedical literature suggests broad-spectrum benevolence of culinary herbs and spices

    OpenAIRE

    K, Rakhi; Tuwani, Rudraksh; Mukherjee, Jagriti; Bagler, Ganesh

    2018-01-01

    Spices and herbs are key dietary ingredients used across cultures worldwide. Beyond their use as flavoring and coloring agents, the popularity of these aromatic plant products in culinary preparations has been attributed to their antimicrobial properties. Last few decades have witnessed an exponential growth of biomedical literature investigating the impact of spices and herbs on health, presenting an opportunity to mine for patterns from empirical evidence. Systematic investigation of empiri...

  10. Conditions and consequences of medical futility--from a literature review to a clinical model.

    Science.gov (United States)

    Löfmark, R; Nilstun, T

    2002-04-01

    To present an analysis of "futility" that is useful in the clinical setting. Literature review. According to Medline more than 750 articles have been published about medical futility. Three criteria (language, time period, and the authors expressed their own opinions) singled out 43 of them. The authors' opinions about futility were analysed using the scheme: "If certain conditions are satisfied, then a particular measure is futile" and "If a particular measure is futile, then certain moral consequences are implied". Regarding conditions, most authors stated that judgments about futility should be made by physicians. The measure was usually some kind of medical treatment, and the goals related to quality of life, physiological improvement, or prolongation of life. The probability of success in reaching the goal was in most cases described in semiquantitative terms. Regarding consequences, the authors stated that health care professionals may (sometimes ought or should) withhold or withdraw a futile measure, most often after a dialogue with the patient (29 articles), but sometimes without informing the patient (nine articles), or with one-way information (four articles). Over time more and more articles recommend that the patient should be involved in joint decision making. Based on this literature review a clinical model was developed. The model, requiring that conditions and consequences should be made explicit, may, in "futility situations", facilitate both the collection of the necessary information and make the moral implications visible. It also makes communication about measures considered to be futile possible without using such ambiguous terms as "futile".

  11. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

    Science.gov (United States)

    Krieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S; Goebel, Hans H; Häussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, François; Rudnik-Schöneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Gökhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan

    2013-12-01

    Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjögren syndrome triad (ataxia, cataracts, myopathy) whereas the detection rate in the group of patients with more variable phenotypic presentation was below 3% (1/37). We report 16 unrelated families with a total of 19 different SIL1 mutations. Among these mutations are 15 previously unreported changes, including single- and multi-exon deletions. Based on data from our screening cohort and data compiled from the literature we found that SIL1 mutations are invariably associated with the combination of a cerebellar syndrome and chronic myopathy. Cataracts were observed in all patients beyond the age of 7 years, but might be missing in infants. Six patients with SIL1 mutations had no intellectual disability, extending the known wide range of cognitive capabilities in Marinesco-Sjögren syndrome to include normal intelligence. Modestly constant features were somatic growth retardation, skeletal abnormalities and pyramidal tract signs. Examination of mutant SIL1 expression in cultured patient lymphoblasts suggested that SIL1 mutations result in severely reduced SIL1 protein levels irrespective of the type and position of mutations. Our data broaden the SIL1 mutation spectrum and confirm that SIL1 is the major Marinesco-Sjögren syndrome gene. SIL1 patients usually present with the characteristic triad but cataracts might be

  12. A systematic literature search to identify performance measure outcomes used in clinical studies of racehorses.

    Science.gov (United States)

    Wylie, C E; Newton, J R

    2018-05-01

    Racing performance is often used as a measurable outcome variable in research studies investigating clinical diagnoses or interventions. However, the use of many different performance measures largely precludes conduct of meaningful comparative studies and, to date, those being used have not been collated. To systematically review the veterinary scientific literature for the use of racing performance as a measurable outcome variable in clinical studies of racehorses, collate and identify those most popular, and identify their advantages and disadvantages. Systematic literature search. The search criteria "((racing AND performance) AND (horses OR equidae))" were adapted for both MEDLINE and CAB Abstracts databases. Data were collected in standardised recording forms for binary, categorical and quantitative measures, and the use of performance indices. In total, 217 studies that described racing performance were identified, contributing 117 different performance measures. No one performance measure was used in all studies, despite 90.3% using more than one variable. Data regarding race starts and earnings were used most commonly, with 88.0% and 54.4% of studies including at least one measure of starts and earnings, respectively. Seventeen variables were used 10 times or more, with the top five comprising: 'return to racing', 'number of starts', 'days to first start', 'earnings per period of time' and 'earnings per start'. The search strategies may not have identified all relevant papers, introducing bias to the review. Performance indices have been developed to improve assessment of interventions; however, they are not widely adopted in the scientific literature. Use of the two most commonly identified measures, whether the horse returned to racing and number of starts over a defined period of time, would best facilitate future systematic reviews and meta-analyses in advance of the development of a gold-standard measure of race performance outcome. © 2017 EVJ Ltd.

  13. Clinical spectrum of seizures and efficacy of anticonvulsive treatment in children

    International Nuclear Information System (INIS)

    Mahmud, S.; Zman, S.Q.

    2017-01-01

    Objective: To study the clinical spectrum of seizures and efficacy of anticonvulsive treatment in children. Study Design: A descriptive study. Place and Duration of Study: Military Hospital (MH) Rawalpindi from October 2011 to March 2012. Material and Methods: One hundred children of either gender aged 1 month to 12 years presenting with seizures at Military Hospital Rawalpindi were evaluated and consented to participate in the study. All children with a febrile seizures were evaluated. The seizures were classified according to international league against epilepsy guidelines. Antiepileptic treatment regimen was evaluated in terms of number of drugs, correct dosage and efficacy in control of seizures. Results: It was observed that generalized seizures were (58 percent) followed by focal seizures (32 percent) in children. Valproic acid was prescribed in (51 percent) cases. Epilepsy was diagnosed in (56 percent) followed by cerebral palsy (20 percent), post meningoencephalitis sequalae (11 percent), intracranial hemorrhage (7 percent) and leukodystrophies (3 percnet) as underlying cause of seizures. Statistically significant association was seen between age groups and diagnosis (p value=0.001); age groups and types of seizures (p value=0.046); correct dosage of antiepileptics and control of seizures (p value=0.007); compliance to treatment and control of seizures (p value=0.007). Conclusion: Generalized seizures are the commonest form followed by focal seizures. Epilepsy was the common etiology of seizures in all age groups in children. Cerebral palsy was the second leading cause of seizures in children followed by post meningoencephalitis, stroke and leukodystrophies. Valproic acid was the most commonly prescribed antiepileptic. Normal delivery with delayed cry was the major risk factor for cerebral palsy. Prescription of appropriate antiepileptics according to diagnosis in optimum dosage and compliance to treatment affect control of seizures in children. (author)

  14. HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

    Science.gov (United States)

    Gess, Burkhard; Auer-Grumbach, Michaela; Schirmacher, Anja; Strom, Tim; Zitzelsberger, Manuela; Rudnik-Schöneborn, Sabine; Röhr, Dominik; Halfter, Hartmut; Young, Peter; Senderek, Jan

    2014-11-04

    To determine the nature and frequency of HSJ1 mutations in patients with hereditary motor and hereditary motor and sensory neuropathies. Patients were screened for mutations by genome-wide or targeted linkage and homozygosity studies, whole-exome sequencing, and Sanger sequencing. RNA and protein studies of skin fibroblasts were used for functional characterization. We describe 2 additional mutations in the HSJ1 gene in a cohort of 90 patients with autosomal recessive distal hereditary motor neuropathy (dHMN) and Charcot-Marie-Tooth disease type 2 (CMT2). One family with a dHMN phenotype showed the homozygous splice-site mutation c.229+1G>A, which leads to retention of intron 4 in the HSJ1 messenger RNA with a premature stop codon and loss of protein expression. Another family, presenting with a CMT2 phenotype, carried the homozygous missense mutation c.14A>G (p.Tyr5Cys). This mutation was classified as likely disease-related by several automatic algorithms for prediction of possible impact of an amino acid substitution on the structure and function of proteins. Both mutations cosegregated with autosomal recessive inheritance of the disease and were absent from the general population. Taken together, in our cohort of 90 probands, we confirm that HSJ1 mutations are a rare but detectable cause of autosomal recessive dHMN and CMT2. We provide clinical and functional information on an HSJ1 splice-site mutation and report the detailed phenotype of 2 patients with CMT2, broadening the phenotypic spectrum of HSJ1-related neuropathies. © 2014 American Academy of Neurology.

  15. Painful tonic spasm in neuromyelitis optica spectrum disorders: Prevalence, clinical implications and treatment options.

    Science.gov (United States)

    Liu, Ju; Zhang, Qin; Lian, Zhiyun; Chen, Hongxi; Shi, Ziyan; Feng, Huiru; Miao, Xiaohui; Du, Qin; Zhou, Hongyu

    2017-10-01

    Painful tonic spasm (PTS) is a common symptom in patients with neuromyelitis optica spectrum disorders (NMOSD). This study aimed to obtain further insights into the prevalence, characteristics, and treatment of PTS in patients with NMOSD, and to systematically investigate and compare the clinical features and prognosis of NMOSD with and without PTS. We reviewed the medical records and prospectively interviewed patients with NMOSD who attended the West China Hospital of Sichuan University in Chengdu, China between September 2014 and December 2016. In total, 52 of the 230 patients with NMOSD experienced PTS (22.61%). Patients with NMOSD and PTS were characterized by a higher age at onset (P = 0.017), higher annual relapse rate (ARR) (P = 0.003), higher ARR of myelitis (P = 0.011), and a tendency to experience pruritus (P = 0.025). Sodium channel blocking antiepileptic drugs (carbamazepine or oxcarbazepine) had higher efficacy than gabapentin in the treatment of PTS (P = 0.001). Although the progression index was higher in patients with PTS, this difference did not reach statistical significance (P = 0.05). Our study suggested that immunosuppressors for the prevention of relapse should be administered without delay in patients with NMOSD and PTS. Owing to the side effects of carbamazepine, we recommend oxcarbazepine as the first-line of treatment for PTS in patients with NMOSD. Whether PTS is a marker of disease severity in NMOSD remains to be determined, requiring a long-term prospective observational study. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Age-related hip fractures in men: clinical spectrum and short-term outcomes.

    Science.gov (United States)

    Poór, G; Atkinson, E J; Lewallen, D G; O'Fallon, W M; Melton, L J

    1995-01-01

    Clinical spectrum, treatment and short-term outcomes were assessed among the 131 Rochester, Minnesota, men who contracted an initial hip fracture due to moderate trauma during 1978-89. Three-fourths of falls leading to hip fracture occurred indoors with little seasonality, and 91% of fractures were in men 65 years of age or older. The ratio of cervical to intertrochanteric femur fractures was 1.4:1, and there was a tendency toward more neurological conditions among the patients with cervical fractures. Hemiarthroplasty and total hip replacement were mostly performed for cervical fractures, while internal fixation was preferred for intertrochanteric fractures. In-hospital mortality was 11.5%, and the 30-day case fatality rate was 16.0%. Age and postoperative deterioration of mental status significantly increased the risk of early death, the latter even after adjustment in a multivariate model, while comorbidity had a suggestive but not statistically significant influence on mortality. More than half the men were discharged to nursing homes, and 79% of the patients who survived at 1 year resided in nursing homes or intermediate care facilities or were attended by home care. Only 41% of survivors recovered their prefracture level of functioning and nearly 60% of patients limped and required a cane or walker. After implementation of the prospective payment system in 1984, the length of hospital stay was reduced, but there was no change in early mortality rates, in the duration of physical therapy following fracture or in attendance at nursing homes. The results of this population-based study demonstrate the strong impact of hip fractures on short-term outcomes in men.

  17. Clinical Spectrum and Management of Heart Failure in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Udelson, James E; Maron, Martin S

    2018-05-01

    Heart failure (HF), characterized by excessive exertional dyspnea, is a common complication within the broad clinical spectrum of hypertrophic cardiomyopathy (HCM). HF has become an increasingly prominent management issue with the reduction in sudden deaths due to use of implantable defibrillators in this disease. Exertional dyspnea ranges in severity from mild to severe (New York Heart Association functional classes II to IV) and not uncommonly becomes refractory to medical management, leading to progressive disability, but largely in the absence of pulmonary congestion and volume overload requiring hospitalization. HCM-related HF is most commonly due to dynamic mechanical impedance to left ventricular outflow produced by mitral valve systolic anterior motion, leading to high intracavity pressures. Surgical septal myectomy with low operative mortality (<1%) produces HF reversal and symptom relief in 90% to 95% of patients, while also conveying a survival benefit. Exercise echocardiography has assumed an important role in the evaluation of patients with HCM, i.e., by identifying candidates for septal reduction therapy with refractory HF when outflow gradients are present only with physiological exercise, distinguishing highly symptomatic nonobstructive patients as heart transplant candidates, and predicting future development of progressive HF. Notably, mortality directly attributable to HF has become exceedingly uncommon in HCM (<0.5%/year) in contrast with HF in non-HCM diseases (by 20-fold). In conclusion, HF in HCM is associated with diverse and complex pathophysiology, but a substantially more favorable prognosis than conventional non-HCM HF, and highly amenable to effective treatment options in the vast majority of patients. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  18. A framework to develop a clinical learning culture in health facilities: ideas from the literature.

    Science.gov (United States)

    Henderson, A; Briggs, J; Schoonbeek, S; Paterson, K

    2011-06-01

    Internationally, there is an increase in demand to educate nurses within the clinical practice environment. Clinical practice settings that encourage teaching and learning during episodes of care delivery can be powerful in educating both the existing nursing workforce and nursing students. This paper presents a framework, informed by the literature, that identifies the key factors that are needed to encourage the interactions fundamental to learning in clinical practice. Learning occurs when nurses demonstrate good practice, share their knowledge through conversations and discussions, and also provide feedback to learners, such as students and novices. These types of interactions occur when positive leadership practices encourage trust and openness between staff; when the management team provides sessions for staff to learn how to interact with learners, and also when partnerships provide support and guidance around learning in the workplace. APPLICATION OF CONCEPTS: This framework presents how the concepts of leadership, management and partnership interact to create and sustain learning environments. The feedback from proposed measurement tools can provide valuable information about the positive and negative aspects of these concepts in the clinical learning environment. Analysis of the subscales can assist in identifying appropriate recommended strategies outlined in the framework to guide nurses in improving the recognized deficits in the relationship between the concepts. Leadership, management and partnerships are pivotal for the creation and maintenance of positive learning environments. Diagnostic measurement tools can provide specific information about weaknesses across these areas. This knowledge can guide future initiatives. © 2011 The Authors. International Nursing Review © 2011 International Council of Nurses.

  19. The role of emotion in clinical decision making: an integrative literature review.

    Science.gov (United States)

    Kozlowski, Desirée; Hutchinson, Marie; Hurley, John; Rowley, Joanne; Sutherland, Joanna

    2017-12-15

    Traditionally, clinical decision making has been perceived as a purely rational and cognitive process. Recently, a number of authors have linked emotional intelligence (EI) to clinical decision making (CDM) and calls have been made for an increased focus on EI skills for clinicians. The objective of this integrative literature review was to identify and synthesise the empirical evidence for a role of emotion in CDM. A systematic search of the bibliographic databases PubMed, PsychINFO, and CINAHL (EBSCO) was conducted to identify empirical studies of clinician populations. Search terms were focused to identify studies reporting clinician emotion OR clinician emotional intelligence OR emotional competence AND clinical decision making OR clinical reasoning. Twenty three papers were retained for synthesis. These represented empirical work from qualitative, quantitative, and mixed-methods approaches and comprised work with a focus on experienced emotion and on skills associated with emotional intelligence. The studies examined nurses (10), physicians (7), occupational therapists (1), physiotherapists (1), mixed clinician samples (3), and unspecified infectious disease experts (1). We identified two main themes in the context of clinical decision making: the subjective experience of emotion; and, the application of emotion and cognition in CDM. Sub-themes under the subjective experience of emotion were: emotional response to contextual pressures; emotional responses to others; and, intentional exclusion of emotion from CDM. Under the application of emotion and cognition in CDM, sub-themes were: compassionate emotional labour - responsiveness to patient emotion within CDM; interdisciplinary tension regarding the significance and meaning of emotion in CDM; and, emotion and moral judgement. Clinicians' experienced emotions can and do affect clinical decision making, although acknowledgement of that is far from universal. Importantly, this occurs in the in the absence of a

  20. A Randomized Clinical Trial of Cognitive Enhancement Therapy for Adults with Autism Spectrum Disorders

    Science.gov (United States)

    2012-10-01

    life for more able individuals with autism or Asperger syndrome. Autism , 4(1), 63-83. Kanner, L. (1971). Follow-up study of eleven autistic...Enhancement Therapy for Adults with Autism Spectrum Disorders PRINCIPAL INVESTIGATOR: Nancy J. Minshew, M.D. & Shaun M. Each, Ph.D...Therapy for Adults with Autism Spectrum Disorders 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-11-1-0665 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR

  1. The scope and impact of mobile health clinics in the United States: a literature review.

    Science.gov (United States)

    Yu, Stephanie W Y; Hill, Caterina; Ricks, Mariesa L; Bennet, Jennifer; Oriol, Nancy E

    2017-10-05

    As the U.S. healthcare system transforms its care delivery model to increase healthcare accessibility and improve health outcomes, it is undergoing changes in the context of ever-increasing chronic disease burdens and healthcare costs. Many illnesses disproportionately affect certain populations, due to disparities in healthcare access and social determinants of health. These disparities represent a key area to target in order to better our nation's overall health and decrease healthcare expenditures. It is thus imperative for policymakers and health professionals to develop innovative interventions that sustainably manage chronic diseases, promote preventative health, and improve outcomes among communities disenfranchised from traditional healthcare as well as among the general population. This article examines the available literature on Mobile Health Clinics (MHCs) and the role that they currently play in the U.S. healthcare system. Based on a search in the PubMed database and data from the online collaborative research network of mobile clinics MobileHealthMap.org , the authors evaluated 51 articles with evidence on the strengths and weaknesses of the mobile health sector in the United States. Current literature supports that MHCs are successful in reaching vulnerable populations, by delivering services directly at the curbside in communities of need and flexibly adapting their services based on the changing needs of the target community. As a link between clinical and community settings, MHCs address both medical and social determinants of health, tackling health issues on a community-wide level. Furthermore, evidence suggest that MHCs produce significant cost savings and represent a cost-effective care delivery model that improves health outcomes in underserved groups. Even though MHCs can fulfill many goals and mandates in alignment with our national priorities and have the potential to help combat some of the largest healthcare challenges of this era, there

  2. Automatic Decision Support for Clinical Diagnostic Literature Using Link Analysis in a Weighted Keyword Network.

    Science.gov (United States)

    Li, Shuqing; Sun, Ying; Soergel, Dagobert

    2017-12-23

    We present a novel approach to recommending articles from the medical literature that support clinical diagnostic decision-making, giving detailed descriptions of the associated ideas and principles. The specific goal is to retrieve biomedical articles that help answer questions of a specified type about a particular case. Based on the filtered keywords, MeSH(Medical Subject Headings) lexicon and the automatically extracted acronyms, the relationship between keywords and articles was built. The paper gives a detailed description of the process of by which keywords were measured and relevant articles identified based on link analysis in a weighted keywords network. Some important challenges identified in this study include the extraction of diagnosis-related keywords and a collection of valid sentences based on the keyword co-occurrence analysis and existing descriptions of symptoms. All data were taken from medical articles provided in the TREC (Text Retrieval Conference) clinical decision support track 2015. Ten standard topics and one demonstration topic were tested. In each case, a maximum of five articles with the highest relevance were returned. The total user satisfaction of 3.98 was 33% higher than average. The results also suggested that the smaller the number of results, the higher the average satisfaction. However, a few shortcomings were also revealed since medical literature recommendation for clinical diagnostic decision support is so complex a topic that it cannot be fully addressed through the semantic information carried solely by keywords in existing descriptions of symptoms. Nevertheless, the fact that these articles are actually relevant will no doubt inspire future research.

  3. Key-feature questions for assessment of clinical reasoning: a literature review.

    Science.gov (United States)

    Hrynchak, Patricia; Takahashi, Susan Glover; Nayer, Marla

    2014-09-01

    Key-feature questions (KFQs) have been developed to assess clinical reasoning skills. The purpose of this paper is to review the published evidence on the reliability and validity of KFQs to assess clinical reasoning. A literature review was conducted by searching MEDLINE (1946-2012) and EMBASE (1980-2012) via OVID and ERIC. The following search terms were used: key feature; question or test or tests or testing or tested or exam; assess or evaluation, and case-based or case-specific. Articles not in English were eliminated. The literature search resulted in 560 articles. Duplicates were eliminated, as were articles that were not relevant; nine articles that contained reliability or validity data remained. A review of the references and of citations of these articles resulted in an additional 12 articles to give a total of 21 for this review. Format, language and scoring of KFQ examinations have been studied and modified to maximise reliability. Internal consistency reliability has been reported as being between 0.49 and 0.95. Face and content validity have been shown to be moderate to high. Construct validity has been shown to be good using vector thinking processes and novice versus expert paradigms, and to discriminate between teaching methods. The very modest correlations between KFQ examinations and more general knowledge-based examinations point to differing roles for each. Importantly, the results of KFQ examinations have been shown to successfully predict future physician performance, including patient outcomes. Although it is inaccurate to conclude that any testing format is universally reliable or valid, published research supports the use of examinations using KFQs to assess clinical reasoning. The review identifies areas of further study, including all categories of evidence. Investigation into how examinations using KFQs integrate with other methods in a system of assessment is needed. © 2014 John Wiley & Sons Ltd.

  4. Authentication systems for securing clinical documentation workflows. A systematic literature review.

    Science.gov (United States)

    Schwartze, J; Haarbrandt, B; Fortmeier, D; Haux, R; Seidel, C

    2014-01-01

    Integration of electronic signatures embedded in health care processes in Germany challenges health care service and supply facilities. The suitability of the signature level of an eligible authentication procedure is confirmed for a large part of documents in clinical practice. However, the concrete design of such a procedure remains unclear. To create a summary of usable user authentication systems suitable for clinical workflows. A Systematic literature review based on nine online bibliographic databases. Search keywords included authentication, access control, information systems, information security and biometrics with terms user authentication, user identification and login in title or abstract. Searches were run between 7 and 12 September 2011. Relevant conference proceedings were searched manually in February 2013. Backward reference search of selected results was done. Only publications fully describing authentication systems used or usable were included. Algorithms or purely theoretical concepts were excluded. Three authors did selection independently. DATA EXTRACTION AND ASSESSMENT: Semi-structured extraction of system characteristics was done by the main author. Identified procedures were assessed for security and fulfillment of relevant laws and guidelines as well as for applicability. Suitability for clinical workflows was derived from the assessments using a weighted sum proposed by Bonneau. Of 7575 citations retrieved, 55 publications meet our inclusion criteria. They describe 48 different authentication systems; 39 were biometric and nine graphical password systems. Assessment of authentication systems showed high error rates above European CENELEC standards and a lack of applicability of biometric systems. Graphical passwords did not add overall value compared to conventional passwords. Continuous authentication can add an additional layer of safety. Only few systems are suitable partially or entirely for use in clinical processes. Suitability

  5. Clinical outcome of pediatric collagenous gastritis: case series and review of literature.

    Science.gov (United States)

    Hijaz, Nadia Mazen; Septer, Seth Steven; Degaetano, James; Attard, Thomas Mario

    2013-03-07

    Collagenous gastritis (CG) is characterized by patchy subepithelial collagen bands. Effective treatment and the clinical and histological outcome of CG in children are poorly defined. The aim of this study is to summarize the published literature on the clinical outcome and response to therapy of pediatric CG including two new cases. We performed a search in Pubmed, OVID for related terms; articles including management and clinical and/or endo-histologic follow up information were included and abstracted. Reported findings were pooled in a dedicated database including the corresponding data extracted from chart review in our patients with CG. Twenty-four patients were included (17 females) with a mean age of 11.7 years. The clinical presentation included iron deficiency anemia and dyspepsia. The reported duration of follow up (in 18 patients) ranged between 0.2-14 years. Despite most subjects presenting with anemia including one requiring blood transfusion, oral iron therapy was only documented in 12 patients. Other treatment modalities were antisecretory measures in 13 patients; proton pump inhibitors (12), or histamine-2 blockers (3), sucralfate (5), prednisolone (6), oral budesonide in 3 patients where one received it in fish oil and triple therapy (3). Three (13%) patients showed no clinical improvement despite therapy; conversely 19 out of 22 were reported with improved symptoms including 8 with complete symptom resolution. Spontaneous clinical resolution without antisecretory, anti-inflammatory or gastroprotective agents was noted in 5 patients (4 received only supplemental iron). Follow up endo-histopathologic data (17 patients) included persistent collagen band and stable Mononuclear cell infiltrate in 12 patients with histopathologic improvement in 5 patients. Neither collagen band thickness nor mononuclear cell infiltrate correlated with clinical course. Intestinal metaplasia and endocrine cell hyperplasia were reported (1) raising the concern of long

  6. [Lightning strike and lesions outside the brain: Clinical cases and a review of the literature].

    Science.gov (United States)

    Morin, A; Lesourd, A; Cabane, J

    2015-01-01

    Every year, 240,000 people are struck by lightning worldwide, causing injuries leading to significant handicaps. Most of the symptoms involve brain lesions; neuromuscular sequelae and myelopathy are less common. We describe five cases of patients struck by lightning with various clinical presentations. The first patient presented painful paresthesias in both upper limbs that disappeared 18 months later; the injury was a plexopathy. The second patient developed proximal weakness in the upper-left limb due to a myopathy. Two patients presented with various motor weaknesses in the lower limbs due to motor neuron disease and myelopathy. The last patient had a transient tetraplegy, which resolved in 5minutes; the diagnosis was keraunoparalysis. Lightning injuries can have many consequences depending on the different mechanisms involved. The clinical presentation is often due to a very focal lesion without any secondary extension. Motor neuron disease probably results from post-traumatic myelopathy. We discuss the ALS-electrocution association, frequently described in the literature. Various peripheral nerve and spinal cord lesions can be seen in lightning strike victims involving myelopathy, motor neuron, muscle and plexus. Clinical syndromes are often atypical but outcome is often favorable. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  7. Unmet clinical needs and burden in Angelman syndrome: a review of the literature.

    Science.gov (United States)

    Wheeler, Anne C; Sacco, Patricia; Cabo, Raquel

    2017-10-16

    Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep. A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not have much, if any, empirical support. The lack of standardized treatment protocols or approved therapies, combined with the severity of the condition, results in high unmet clinical needs in the areas of motor functioning, communication, behavior, and sleep for individuals with AS and their families.

  8. [A multidiscipline clinical and biological approach to the study of psychotic types of autistic spectrum disorders in children].

    Science.gov (United States)

    Simashkova, N V; Iakupova, L P; Kliushnik, T P; Koval'-Zaĭtsev, A A

    2013-01-01

    The current problem of heterogeneity of psychotic types of autistic spectrum disorders (ASD) is reviewed. The authors present results of a multidiscipline psychopathological, pathopsychological, neurophysiological and immunological examination of 87 patients, aged from 3 to 14 years, with psychotic types of ASD: childhood psychosis (CP) and atypical childhood psychosis (ACP). Significant differences in clinical presentations of CP and ACP that were correlated with pathopsychological, neurophysiological and immunological disorders were found. These findings support different nosological entities of these types of ASD.

  9. [Autism Spectrum Disorder in DSM-5 - concept, validity, and reliability, impact on clinical care and future research].

    Science.gov (United States)

    Freitag, Christine M

    2014-05-01

    Autism Spectrum Disorder (ASD) in DSM-5 comprises the former DSM-IV-TR diagnoses of Autistic Disorder, Asperger's Disorder and PDD-nos. The criteria for ASD in DSM-5 were considerably revised from those of ICD-10 and DSM-IV-TR. The present article compares the diagnostic criteria, presents studies on the validity and reliability of ASD, and discusses open questions. It ends with a clinical and research perspective.

  10. Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an Adult Autism Spectrum Disorder Diagnostic Clinic

    Science.gov (United States)

    Wilson, C. Ellie; Gillan, Nicola; Spain, Deborah; Robertson, Dene; Roberts, Gedeon; Murphy, Clodagh M.; Maltezos, Stefanos; Zinkstok, Janneke; Johnston, Katie; Dardani, Christina; Ohlsen, Chris; Deeley, P. Quinton; Craig, Michael; Mendez, Maria A.; Happé, Francesca; Murphy, Declan G. M.

    2013-01-01

    An Autism Spectrum Disorder (ASD) diagnosis is often used to access services. We investigated whether ASD diagnostic outcome varied when DSM-5 was used compared to ICD-10R and DSM-IV-TR in a clinical sample of 150 intellectually able adults. Of those diagnosed with an ASD using ICD-10R, 56% met DSM-5 ASD criteria. A further 19% met DSM-5 (draft)…

  11. Clinical spectrum and outcomes of crescentic glomerulonephritis: A single center experience

    Directory of Open Access Journals (Sweden)

    S K Rampelli

    2016-01-01

    Full Text Available There is limited data on the etiology, clinical and histopathological spectrum and outcomes of crescentic glomerulonephritis (CrGN in adult Indian population. This prospective study was done to evaluate the etiology, clinicohistological patterns and predictors of outcome of CrGN in South Indian population. All the patients received standard protocol based immunosuppression in addition to supportive care. Immune-complex glomerulonephritis (ICGN was the most common etiology (n = 31; 77.5% followed by pauci-immune glomerulonephritis (PauciGN; n = 8; 20% and anti-glomerular basement membrane disease (n = 1; 2.5%. The most common etiology of ICGN was IgA nephropathy (n = 11; 27.5% followed by lupus nephritis (n = 7; 17.5% and post-infectious glomerulonephritis (PIGN (n = 7; 17.5%. The patients with PauciGN were significantly older compared to those with ICGN (44.5 ± 15 years vs. 31.8 ± 11 years; P = 0.01. The patients with PauciGN presented with significantly higher serum creatinine (9.7 ± 4.4 vs. 6.6 ± 3.3 mg/dl; P = 0.03. The histopathologic parameters of ICGN and PauciGN were comparable except for a higher proportion of sclerosed glomeruli in ICGN. At the end of 3 months follow-up, only two patients went into complete remission (5.4%. Majority of the patients had end-stage renal failure (48.6% and were dialysis dependent and seven patients (18.9% expired. There was no signifi difference in the renal survival (10.9 ± 1.9 vs. 9.6 ± 3.3 months or patient survival (17.5 ± 2.1 vs. 17.3 ± 4.3 months. The parameters associated with adverse outcomes at 3 months were hypertension (odds ratio [OR]: 0.58; confidence interval [CI]: 0.36–0.94, need for renal replacement therapy (OR: 0.19; CI: 0.04–0.9, serum creatinine at admission (P = 0.019, estimated glomerular filtration rate (P = 0.022 and percentage of fibrocellular crescents (P = 0.022.

  12. Antimicrobial therapies for odontogenic infections in children and adolescents. Literature review and clinical recomendations.

    Directory of Open Access Journals (Sweden)

    Inés Caviglia

    2014-03-01

    Full Text Available Oral infections are caused by an imbalance in the patient’s indigenous flora which changes from commensal to opportunistic. Odontogenic infections are the most common reason for consultation in children and adolescents. Rational use of antibiotics is the best strategy to avoid microbial resistance. Dental infections should first receive proper local treatment, which can also be complemented with a systemic method. Appropriate drug selection and dosing should be made. Amoxicilin is the first choice for antimicrobial agents in pediatric dentistry. Clindamycin and clarithromycin are the best alternative for patients with penicillin hypersensibility. In this literature review, the authors intended to establish clear clinical management guidelines for emergency treatment and subsequent final resolution.

  13. Assessing Hospital Physicians' Acceptance of Clinical Information Systems: A Review of the Relevant Literature

    Directory of Open Access Journals (Sweden)

    Bram Pynoo

    2013-06-01

    Full Text Available In view of the tremendous potential benefits of clinical information systems (CIS for the quality of patient care; it is hard to understand why not every CIS is embraced by its targeted users, the physicians. The aim of this study is to propose a framework for assessing hospital physicians' CIS-acceptance that can serve as a guidance for future research into this area. Hereto, a review of the relevant literature was performed in the ISI Web-of-Science database. Eleven studies were withheld from an initial dataset of 797 articles. Results show that just as in business settings, there are four core groups of variables that influence physicians' acceptance of a CIS: its usefulness and ease of use, social norms, and factors in the working environment that facilitate use of the CIS (such as providing computers/workstations, compatibility between the new and existing system.... We also identified some additional variables as predictors of CIS-acceptance.

  14. Diagnostic criteria and treatment of discogenic pain: a systematic review of recent clinical literature.

    Science.gov (United States)

    Malik, Khalid M; Cohen, Steven P; Walega, David R; Benzon, Honorio T

    2013-11-01

    Pain innate to intervertebral disc, often referred to as discogenic pain, is suspected by some authors to be the major source of chronic low back and neck pain. Current management of suspected discogenic pain lacks standardized diagnosis, treatment, and terminology. In an attempt to determine whether patterns existed that may facilitate standardization of care, we sought to analyze the terminologies used and the various modes of diagnosis and treatment of suspected discogenic pain. A systematic review of the recent literature. A Medline search was performed using the terms degenerative disc disease, discogenic pain, internal disc disruption while using the limits of human studies, English language, and clinical trials, for the last 10 years. The search led to a total of 149 distinct citations, of which 53 articles, where the intervertebral disc itself was considered the principal source of patient's pain and was the main target of the treatment, were retained for further analysis. The results of this review confirm and help quantify the significant differences that existed in the terminology and all the areas of diagnosis and treatment of presumed discogenic pain. Our findings show that suspected discogenic pain, despite its extensive affirmation in the literature and enormous resources regularly devoted to it, currently lacks clear diagnostic criteria and uniform treatment or terminology. Copyright © 2013 Elsevier Inc. All rights reserved.

  15. Using literature and data to learn Bayesian networks as clinical models of ovarian tumors.

    Science.gov (United States)

    Antal, Peter; Fannes, Geert; Timmerman, Dirk; Moreau, Yves; De Moor, Bart

    2004-03-01

    Thanks to its increasing availability, electronic literature has become a potential source of information for the development of complex Bayesian networks (BN), when human expertise is missing or data is scarce or contains much noise. This opportunity raises the question of how to integrate information from free-text resources with statistical data in learning Bayesian networks. Firstly, we report on the collection of prior information resources in the ovarian cancer domain, which includes "kernel" annotations of the domain variables. We introduce methods based on the annotations and literature to derive informative pairwise dependency measures, which are derived from the statistical cooccurrence of the names of the variables, from the similarity of the "kernel" descriptions of the variables and from a combined method. We perform wide-scale evaluation of these text-based dependency scores against an expert reference and against data scores (the mutual information (MI) and a Bayesian score). Next, we transform the text-based dependency measures into informative text-based priors for Bayesian network structures. Finally, we report the benefit of such informative text-based priors on the performance of a Bayesian network for the classification of ovarian tumors from clinical data.

  16. Diagnostic Approaches to Sjögren’s Syndrome: a Literature Review and Own Clinical Experience

    Directory of Open Access Journals (Sweden)

    Pedro de Sousa Gomes

    2012-03-01

    Full Text Available Objectives: The purpose of present paper is to critically address the recent advances on diagnostic procedures of Sjögren’s syndrome, taking into account the attained local and systemic features of the disease. Material and Methods: A comprehensive review of the available literature regarding to the diagnostic approaches to Sjögren’s syndrome was conducted. Eligible studies were identified by searching the electronic literature PubMed, Medline, Embase, and ScienceDirect databases for relevant reports (last search update January 2012 combining the MESH heading term “Sjögren’s syndrome”, with the words "diagnosis, diagnostic procedures, salivary gland function, ocular tests, histopathology, salivary gland imaging, serology". The authors checked the references of the selected articles to identify additional eligible publications and contacted the authors, if necessary. Results: Presented article addresses the established diagnostic criteria for Sjögren’s syndrome and critically evaluates the most commonly used diagnostic procedures, presenting data from author’s own clinical experience. Diagnostic criteria for Sjögren’s syndrome are required both by healthcare professionals and patients, namely in order to provide a rational basis for the assessment of the symptoms, establish an individual disease prognosis, and orientate the therapeutic intervention. Conclusions: Sjögren’s syndrome is quite a common autoimmune disease of which the diagnosis and treatment are not easily established. Due to its systemic involvement, it can exhibit a wide range of clinical manifestations that contribute to confusion and delay in diagnosis. The use of proper diagnostic modalities will help to reduce the time to diagnosis and preserve the health and quality of life of patients with Sjögren’s syndrome.

  17. Levels of Evidence in the Clinical Sports Medicine Literature: Are We Getting Better Over Time?

    Science.gov (United States)

    Grant, Heather M; Tjoumakaris, Fotios P; Maltenfort, Mitchell G; Freedman, Kevin B

    2014-07-01

    There has been an increased emphasis on improving the level of evidence used as the basis for clinical treatment decisions. Several journals now require a statement of the level of evidence as a basic gauge of the study's strength. To review the levels of evidence in published articles in the clinical sports medicine literature and to determine if there has been an improvement in the levels of evidence published over the past 15 years. Systematic review. All articles from the years 1995, 2000, 2005, and 2010 in The American Journal of Sports Medicine (AJSM), Arthroscopy, and sports medicine-related articles from The Journal of Bone and Joint Surgery-American (JBJS-A) were analyzed. Articles were categorized by type and ranked for level of evidence according to guidelines from the Centre for Evidence-Based Medicine. Excluded were animal, cadaveric, and basic science articles; editorials; surveys; special topics; letters to the editor; and correspondence. Statistical analysis was performed with chi-square. A total of 1580 articles over the 4 periods met the inclusion criteria. The percentage of level 1 and 2 studies increased from 6.8% to 12.6%, 22.9%, and 23.5%, respectively (P studies decreased from 78.9% to 72.4%, 63.9%, and 53.0% (P studies (4.1%, 5.1%, 28.2%, 27.8%; P studies all showed significant increases in level 1 and 2 studies over time (P studies published in the sports medicine literature over the past 15 years, particularly in JBJS-A and AJSM. The largest increase was seen in diagnostic studies, while therapeutic and prognostic studies demonstrated modest improvement. The emphasis on increasing levels of evidence to guide treatment decisions for sports medicine patients may be taking effect. © 2014 The Author(s).

  18. Socio-sexual functioning in autism spectrum disorder: A systematic review and meta-analyses of existing literature.

    Science.gov (United States)

    Hancock, Grace I P; Stokes, Mark A; Mesibov, Gary B

    2017-11-01

    Socio-sexual functioning encompasses an individual's interests, behaviors, and knowledge with respect to sexual, romantic, and social aspects of life. An individual's understanding of these domains is developed through a range of informal and formal avenues of sexual health education. The current model demonstrated this and proposed that, compared to typically developing individuals, those with ASD develop socio-sexual functioning differently due to having less peer engagement, less relationship experience, more parental guidance, greater use of online materials, receive less school-based sexual health education, and more support from wellbeing services. Systematic review and meta-analysis of existing literature revealed that individuals with ASD have greater difficultly adhering to privacy norms, engage in less social behavior, are described as engaging in less appropriate sexual behavior, have greater concerns about themselves, and receive less sexual health education. Having fewer opportunities for appropriate informal and formal sexual health education leaves them at a double disadvantage from others who are receiving this information from both of these avenues. Some of the current meta-analytic results are cautioned by large l-square statistics which suggest that a degree of variance is being caused by extraneous factors. Further empirical research in this area is needed to overcome current design and sample limitations. Finally, the Sexual Behavior Scale was the most commonly utilized tool in the meta-analyzed studies, thus comprehensive evaluation of its functioning is warranted. The importance of work in this area is highlighted by the central role of social and sexual wellbeing on one's quality of life. Autism Res 2017, 10: 1823-1833. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Review of existing literature revealed that individuals with ASD have greater difficultly adhering to privacy norms, engage in less social behavior

  19. Late brain metastases from breast cancer: clinical remarks on 11 patients and review of the literature.

    Science.gov (United States)

    Piccirilli, Manolo; Sassun, Tanya Enny; Brogna, Christian; Giangaspero, Felice; Salvati, Maurizio

    2007-01-01

    Late brain metastases from breast cancer are a rare event. Only a few cases have been reported in the English literature. The authors describe the clinical and pathological remarks, together with treatment modalities, removal extent and overall survival, of 11 patients in whom brain metastases were detected more than 10 years from the primary tumor. Between January 1997 and April 2001, we hospitalized 11 patients, all females, with a histologically proven diagnosis of brain metastasis from breast invasive ductal carcinoma. We defined 'late metastasis' as those metastases that appeared at least 10 years after the breast cancer diagnosis. The median age at the moment of brain metastasis diagnosis was 59 years (range, 47-70), with a median latency time from breast cancer diagnosis of 16 years (range, 11-30). Ten patients underwent surgery followed by adjuvant radiotherapy (whole brain radiotherapy). Two of them received, after whole brain radiotherapy, stereotaxic radio surgery treatment. One patient had stereotaxic brain biopsy, performed by neuronavigator, followed by palliative corticosteroid therapy. Median survival after brain metastasis diagnosis was 28 months (range, 3 months-4 years). Although late brain metastases are a rare event, specific neurologic symptoms and neuroradiological evidence of a cerebral neoplasm should be correlated to the presence of a cerebral metastasis, in a patient with a previous history of breast cancer. The longer latency time from breast cancer to brain metastasis could be explained by the "clonal dominance" theory and by different genetic alterations of the metastatic cell, which could influence the clinical history of the disease.

  20. Clinical Reasoning in the Assessment and Planning for Intervention for Autism Spectrum Disorder

    Science.gov (United States)

    McCrimmon, Adam W.; Yule, Ashleigh E.

    2017-01-01

    Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder whose incidence is rising. School-based professionals are in an ideal position to provide the much-needed assessment and intervention supports for students with ASD, as the professionals' placement within a formal system affords the opportunity to observe and support children…

  1. Clinical and pharmacokinetic evaluation of risperidone for the management of autism spectrum disorder

    NARCIS (Netherlands)

    Dinnissen, Mariken; Dietrich, Andrea; van den Hoofdakker, Barbara J.; Hoekstra, Pieter J.

    Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is often accompanied by psychiatric comorbidity. Although there is no medication currently available to treat the core symptoms of ASD, risperidone was the first drug to be approved for use in ASD and is still the

  2. Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

    Science.gov (United States)

    Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

    2013-01-01

    Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

  3. The Relationship between Clinical Presentation and Unusual Sensory Interests in Autism Spectrum Disorders: A Preliminary Investigation

    Science.gov (United States)

    Zachor, Ditza A.; Ben-Itzchak, Esther

    2014-01-01

    Unusual responses to sensory stimuli have been described in autism spectrum disorder (ASD).The study examined the frequencies of "unusual sensory interests" and "negative sensory responses" and their relation to functioning in a large ASD population (n = 679). Having "unusual sensory interests" was reported in 70.4%…

  4. A diagnosis-based clinical decision rule for spinal pain part 2: review of the literature

    Directory of Open Access Journals (Sweden)

    Hurwitz Eric L

    2008-08-01

    Full Text Available Abstract Background Spinal pain is a common and often disabling problem. The research on various treatments for spinal pain has, for the most part, suggested that while several interventions have demonstrated mild to moderate short-term benefit, no single treatment has a major impact on either pain or disability. There is great need for more accurate diagnosis in patients with spinal pain. In a previous paper, the theoretical model of a diagnosis-based clinical decision rule was presented. The approach is designed to provide the clinician with a strategy for arriving at a specific working diagnosis from which treatment decisions can be made. It is based on three questions of diagnosis. In the current paper, the literature on the reliability and validity of the assessment procedures that are included in the diagnosis-based clinical decision rule is presented. Methods The databases of Medline, Cinahl, Embase and MANTIS were searched for studies that evaluated the reliability and validity of clinic-based diagnostic procedures for patients with spinal pain that have relevance for questions 2 (which investigates characteristics of the pain source and 3 (which investigates perpetuating factors of the pain experience. In addition, the reference list of identified papers and authors' libraries were searched. Results A total of 1769 articles were retrieved, of which 138 were deemed relevant. Fifty-one studies related to reliability and 76 related to validity. One study evaluated both reliability and validity. Conclusion Regarding some aspects of the DBCDR, there are a number of studies that allow the clinician to have a reasonable degree of confidence in his or her findings. This is particularly true for centralization signs, neurodynamic signs and psychological perpetuating factors. There are other aspects of the DBCDR in which a lesser degree of confidence is warranted, and in which further research is needed.

  5. Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study.

    Science.gov (United States)

    Costa, Nayara Thais de Oliveira; Martinho-Carvalho, Ana Claudia; Cunha, Maria Claudia; Lewis, Doris Ruthi

    2012-01-01

    This study had the aim to investigate the auditory and communicative abilities of children diagnosed with Auditory Neuropathy Spectrum Disorder due to mutation in the Otoferlin gene. It is a descriptive and qualitative study in which two siblings with this diagnosis were assessed. The procedures conducted were: speech perception tests for children with profound hearing loss, and assessment of communication abilities using the Behavioral Observation Protocol. Because they were siblings, the subjects in the study shared family and communicative context. However, they developed different communication abilities, especially regarding the use of oral language. The study showed that the Auditory Neuropathy Spectrum Disorder is a heterogeneous condition in all its aspects, and it is not possible to make generalizations or assume that cases with similar clinical features will develop similar auditory and communicative abilities, even when they are siblings. It is concluded that the acquisition of communicative abilities involves subjective factors, which should be investigated based on the uniqueness of each case.

  6. Pan coast tumor. Literature review and report of a clinical case

    International Nuclear Information System (INIS)

    Vázquez, A.; Terzieff, V.

    2004-01-01

    A purpose of diagnosis and treatment of 29-year or carrier Pancoast Tumor perform the review of the literature and communicate said case. Material and Methods: We reviewed ten years of literature on the subject, aspects diagnoses, statistical and treatments. Results: pancoast tumor described in 1924 by this author, was reported for the first time in 1838 by Edwin Hare In our Ricaldoni what described at the beginning of last century. Lung tumor origin, located in the upper lobe with infiltration of adjacent structures characterized in the same by infiltration of the first rib, brachial plexus, cervical, and sympathetic system with its peculiar clinical presentation. Is between 1.2 and 5 % Of total CBP in different series for NPC tumors. It is preferred and recommended study by MRI, and eventually transmural puncture mediastinoscopy since N2 lymph node infiltration is worse prognosis than N3. treatment of it has evolved into the Qt-Rt induction prior to surgery, when it is possible to do. He still is in search of drugs and doses more efficient and optimal heating technique. In relation to surgery preferred techniques using block. Discussion: Based on the search for the best treatment, it is directly linked to the study and after staging the patient highlighting the value of preoperative MRI. The platinum-based induction and phasing Rt dose is discussed prioritizing reach 60 Gy or more. We report a case of a 29 years carrier of this disease in stage T4N3M1 in metastatic debut with his bad foreseeable development

  7. Clinical Ethics in Gabon: The Spectrum of Clinical Ethical Issues Based on Findings from In-Depth Interviews at Three Public Hospitals.

    Science.gov (United States)

    Sippel, Daniel; Marckmann, Georg; Ndzie Atangana, Etienne; Strech, Daniel

    2015-01-01

    Unlike issues in biomedical research ethics, ethical challenges arising in daily clinical care in Sub-Saharan African countries have not yet been studied in a systematic manner. However this has to be seen as a distinct entity as we argue in this paper. Our aim was to give an overview of the spectrum of clinical ethical issues and to understand what influences clinical ethics in the Sub-Saharan country of Gabon. In-depth interviews with 18 health care professionals were conducted at three hospital sites in Gabon. Interview transcripts were analyzed using a grounded theory approach (open and axial coding), giving a qualitative spectrum of categories for clinical ethical issues. Validity was checked at a meeting with study participants and other health care experts in Gabon after analysis of the data. Twelve main categories (with 28 further-specified subcategories) for clinical ethical issues were identified and grouped under three core categories: A) micro level: "confidentiality and information", "interpersonal, relational and behavioral issues", "psychological strain of individuals", and "scarce resources"; B) meso level: "structural issues of medical institutions", "issues with private clinics", "challenges connected to the family", and "issues of education, training and competence"; and C) macro level: "influence of society, culture, religion and superstition", "applicability of western medicine", "structural issues on the political level", and "legal issues". Interviewees reported a broad spectrum of clinical ethical issues that go beyond challenges related to scarce financial and human resources. Specific socio-cultural, historical and educational backgrounds also played an important role. In fact these influences are central to an understanding of clinical ethics in the studied local context. Further research in the region is necessary to put our study into perspective. As many participants reported a lack of awareness of ethical issues amongst other health

  8. Suspected bacterial meningomyelitis: The first presenting clinical feature of neuromyelitis optica spectrum disorder.

    Science.gov (United States)

    Li, Xiang; Lin, Jie; Pan, Sipei; Weng, Yiyun; Li, Jia; Zhang, Xu; Xia, Junhui; Tong, Qiaowen

    2017-08-15

    A rare case of neuromyelitis optica spectrum disorder, suspected to be bacterial meningomyelitis as the initial manifestation, is reported. The patient presented with initial symptoms of meningomyelitis and fever. Cerebrospinal fluid analysis revealed pleocytosis (1280×10 6 /L [98% lymphocytes]) and glucose level of 1.8mmol/L. Magnetic resonance imaging revealed >3 vertebral, longitudinally extensive transverse myelitis and area postrema lesions. Right optic neuritis was experienced 20months after the first attack. Serum anti-aquaporin-4 antibody was positive, and a diagnosis of neuromyelitis optica spectrum disorder was made, supporting the hypothesis that the pathogenesis of neuromyelitis optica is triggered by infection. Copyright © 2017. Published by Elsevier B.V.

  9. Vascular rings in Bucaramanga 1999-2002: clinical Series and revision of the literature

    International Nuclear Information System (INIS)

    L M, Sosa Avila; J, Niederbacher; O, Fernandez; A, Duran

    2003-01-01

    They are denominated vascular rings to the group of early anomalies of the embryologic development of the aortic arches that they cause a spectrum of clinical manifestations for the compression of the air way and of the digestive tract. The authors report 8 cases presented among 1999-2002, with an average of age of 10 months at the moment of the diagnosis, 6 arches aortic right and two with double aortic arch. The strider from the birth and the syndrome appearance bronchia-obstructive during the first month was presented in all the cases and the digestive manifestations as dysphagia they accompanied to the cases of double aortic arch. The thorax x-ray allowed valuing the aortic arch it forms the shepherd's aortic crook and of the right the artery right subclavian in 62.5%, and the echography in 100% of the cases; the x-ray of digestive roads evidenced fixed notch in 71% of the cases. The echocardiogram allowed evaluating the origin of the glasses anomalous of the shepherd's crook in 62.5%. It was carried out surgical treatment in 87,5% of the cases, with complications pos-surgical in 1/7 consistent in chylethorax, and subcutaneous emphysema. The authors recommend evaluating for vascular ring to everything recently born with strider and rough obstruction by means of thorax x-ray, x-ray of digestive roads and echocardiogram. In selected cases it would be practiced endoscopy of the air way and the aortogram or the magnetic resonance of the thorax and their vessel for confirmation of the definitive diagnosis

  10. A Randomized Clinical Trial of Cognitive Enhancement Therapy for Adults with Autism Spectrum Disorders

    Science.gov (United States)

    2015-10-01

    spectrum disorders , and assessing the efficacy of this approach in comparison to an active Enriched Supportive Therapy (EST) intervention . Major...This project is focused on conducting the first randomized-controlled trial of Cognitive Enhancement Therapy (CET) in 54 verbal adults with autism ...of the neuroplastic effects of CET on brain function in support of cognitive enhancement in adult autism . Analyses of treatment effects to date

  11. Clinical Ethics in Gabon: The Spectrum of Clinical Ethical Issues Based on Findings from In-Depth Interviews at Three Public Hospitals

    Science.gov (United States)

    Sippel, Daniel; Marckmann, Georg; Ndzie Atangana, Etienne; Strech, Daniel

    2015-01-01

    Introduction Unlike issues in biomedical research ethics, ethical challenges arising in daily clinical care in Sub-Saharan African countries have not yet been studied in a systematic manner. However this has to be seen as a distinct entity as we argue in this paper. Our aim was to give an overview of the spectrum of clinical ethical issues and to understand what influences clinical ethics in the Sub-Saharan country of Gabon. Materials and Methods In-depth interviews with 18 health care professionals were conducted at three hospital sites in Gabon. Interview transcripts were analyzed using a grounded theory approach (open and axial coding), giving a qualitative spectrum of categories for clinical ethical issues. Validity was checked at a meeting with study participants and other health care experts in Gabon after analysis of the data. Results Twelve main categories (with 28 further-specified subcategories) for clinical ethical issues were identified and grouped under three core categories: A) micro level: “confidentiality and information”, “interpersonal, relational and behavioral issues”, “psychological strain of individuals”, and “scarce resources”; B) meso level: “structural issues of medical institutions”, “issues with private clinics”, “challenges connected to the family”, and “issues of education, training and competence”; and C) macro level: “influence of society, culture, religion and superstition”, “applicability of western medicine”, “structural issues on the political level”, and “legal issues”. Discussion Interviewees reported a broad spectrum of clinical ethical issues that go beyond challenges related to scarce financial and human resources. Specific socio-cultural, historical and educational backgrounds also played an important role. In fact these influences are central to an understanding of clinical ethics in the studied local context. Further research in the region is necessary to put our study into

  12. Assessment of the clinical efficacy of the heart spectrum blood pressure monitor for diagnosis of atrial fibrillation: An unblinded clinical trial.

    Science.gov (United States)

    Kao, Wei-Fong; Hou, Sen-Kuang; Huang, Chun-Yao; Chao, Chun-Chieh; Cheng, Chung-Chih; Chen, Yi-Jung

    2018-01-01

    Atrial fibrillation (AF) is the most common arrhythmia. The most common diagnostic method, 12-lead electrocardiogram (ECG), can record episodes of arrhythmia from which the type and severity can be determined. The Heart Spectrum Blood Pressure Monitor (P2; OSTAR Meditech Corp., New Taipei City, Taiwan) is used to measure cardiovascular pressure change with fast Fourier transform (FFT) analysis to obtain heart rate frequency variability and accurate blood pressure data. We compared the diagnostic efficacy of the Heart Spectrum Blood Pressure Monitor to a 12-lead ECG (gold standard) for patients with AF. Three measurement methods were used in this study to analyze the heart index and compare the results with simultaneous 12-lead ECG: blood pressure; mean arterial pressure, which was calculated from individual blood pressure as a constant pressure; and a constant pressure of 60 mmHg. The physician used a 12-lead ECG and the Heart Spectrum Blood Pressure Monitor simultaneously. The Heart Spectrum Blood Pressure Monitor used FFT analysis to diagnose AF, and the findings were compared to the 12-lead ECG readings. This unblinded clinical trial was conducted in the emergency department of Taipei Medical University Hospital. Twenty-nine subjects with AF and 33 without AF aged 25 to 97 y (mean, 63.5 y) were included. Subjects who were exposed to high-frequency surgical equipment during testing, those with cardiac pacemakers or implantable defibrillators, and pregnant women were excluded. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were 97%, 97%, 97%, and 97%, respectively, for method 1; 90%, 100%, 100%, and 91%, respectively, for method 2; and 100%, 94%, 94%, and 100%, respectively, for method 3. The sensitivity, specificity, PPV, and NPV for both methods ranged between 90% and 100%, indicating that the Heart Spectrum Blood Pressure Monitor can be effectively applied for AF detection.

  13. CLINICAL EFFICACY OF THE ROBOT-ASSISTED LAPAROSCOPIC MYOMECTOMY (A REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    V. A. Gudebskaya

    2016-01-01

    Full Text Available Rationale: One of the most complicated and unresolved problems in clinical medicine is the choice of an optimal method for organ-preservation treatment of uterine fibroids in women of childbearing age. Aim: To assess clinical efficacy of robot-assisted laparoscopic myomectomy. Materials and methods: The search was performed in PubMed, Embase, Trip, Cochrane, DocMe databases by keywords: “fibroids”, “robot”, “da Vinci”, “robotic myomectomy”, “robot-assisted myomectomy”. Results: We found 25 publications on robot-assisted laparoscopic myomectomy, including 6  papers on its reproductive outcomes (levels of evidence II–IV. Duration of robot-assisted surgery ranged from 132 to 261 minutes, intraoperative blood loss was in the range from 50 to 387 mL, postoperative hospital stay ranged from 1 to  3.9  days. There was a  lower percentage of intra- and postoperative complications after the robot-assisted interventions, compared to abdominal or classic laparoscopic access, as well as a lower percentage of conversion laparotomies compared to laparoscopy. Pregnancy rates after robotic myomectomy ranged from 16.7 to 69%. Only one case of uterine rupture after robot-assisted laparoscopic myomectomy has been described in the literature. Conclusion: Due to high cost of the method, the number of conducted studies is insufficient to evaluate the role of robotic technologies in the organ-preservation approach to uterine fibroids. Nevertheless, they suggest that robot-assisted laparoscopic myomectomy is justified in women of childbearing age who are planning pregnancy, with big centripetally growing intramural nodes and deformation of the uterine cavity. This technique on its own is an independent method for fertility restoration and could be the first step before the use of assisted reproductive technology.

  14. A systematic literature review of the clinical and cost-effectiveness of hadron therapy in cancer

    International Nuclear Information System (INIS)

    Lodge, Mark; Pijls-Johannesma, Madelon; Stirk, Lisa; Munro, Alastair J.; Ruysscher, Dirk de; Jefferson, Tom

    2007-01-01

    Background: In view of the continued increase in the number of hadron (i.e. neutron, proton and light or heavy ion) therapy (HT) centres we performed a systematic literature review to identify reports of the efficacy of HT. Methods: Eleven databases were searched systematically. No limit was applied to language or study design. Established experts were contacted for unpublished data. Data on outcomes were extracted and summarised in tabular form. Results: Seven hundred and seventy three papers were identified. For proton and heavy ion therapy, the number of RCTs was too small to draw firm conclusions. Based on prospective and retrospective studies, proton irradiation emerges as the treatment of choice for some ocular and skull base tumours. For prostate cancer, the results were comparable with those from the best photon therapy series. Heavy ion therapy is still in an experimental phase. Conclusion: Existing data do not suggest that the rapid expansion of HT as a major treatment modality would be appropriate. Further research into the clinical and cost-effectiveness of HT is needed. The formation of a European Hadron Therapy Register would offer a straightforward way of accelerating the rate at which we obtain high-quality evidence that could be used in assessing the role of HT in the management of cancer

  15. Discovering disease associations by integrating electronic clinical data and medical literature.

    Directory of Open Access Journals (Sweden)

    Antony B Holmes

    Full Text Available Electronic health record (EHR systems offer an exceptional opportunity for studying many diseases and their associated medical conditions within a population. The increasing number of clinical record entries that have become available electronically provides access to rich, large sets of patients' longitudinal medical information. By integrating and comparing relations found in the EHRs with those already reported in the literature, we are able to verify existing and to identify rare or novel associations. Of particular interest is the identification of rare disease co-morbidities, where the small numbers of diagnosed patients make robust statistical analysis difficult. Here, we introduce ADAMS, an Application for Discovering Disease Associations using Multiple Sources, which contains various statistical and language processing operations. We apply ADAMS to the New York-Presbyterian Hospital's EHR to combine the information from the relational diagnosis tables and textual discharge summaries with those from PubMed and Wikipedia in order to investigate the co-morbidities of the rare diseases Kaposi sarcoma, toxoplasmosis, and Kawasaki disease. In addition to finding well-known characteristics of diseases, ADAMS can identify rare or previously unreported associations. In particular, we report a statistically significant association between Kawasaki disease and diagnosis of autistic disorder.

  16. Bone metastases only pure seminoma, evolution and treatment. Literature review and report of a clinical case

    International Nuclear Information System (INIS)

    Vázquez, A.; Cuello, M.; Terzieff, V.; Viola, A.

    2004-01-01

    The only bone metastases in pure seminoma is a biological entity extremely rare. We report a case studied since 2000, treatment and outcome. Case report: 35. Orquiectomizado in September 2000 AP: pure seminoma in the presence of a neoplastic nodule in the spermatic cord.Adjuvant lumboaorticas, left iliac and inguinal chains Rt., 3060 cGy in 3.2 sem. until December 2000 Normal tumor markers throughout the period. In Oct. 2001 TAC control morfoestructural altered posterior the sixth left costal arch. AP: puncture under TAC. Malignant germ cell tumor compatible with pure seminoma. C.O. single lesion. MDT is performed based on PEB for 4 cycles and additional RT obtaining a complete response with reduction bone lesion, asymptomatic until November 2002, again at the level falls costal, VIP x 3 New relapse dorsal paravertebral June 2003, Gemcitabine and Rt paclitaxel, dose intensification transplant. Keeps score high. Poor prognosis. Discussion: In the literature we found no reports of bone lesions only secondary to a pure seminoma. They are described in the context of a frame overall spread in advanced patients and in more than three or four including accompanying synchronous nodal, liver and lung damage. Subsequent developments mark the disease resistance to treatments performed. The three lines are Qt prior to transplantation have shown that best results for the treatment of disease. We discuss the time introduction thereof to obtain a durable complete response. If the marker not normalized but not displayed clinical or paraclinical disease prognosis is bad in the short term

  17. Clinical features of abdominopelvic actinomycosis: report of twenty cases and literature review.

    Science.gov (United States)

    Choi, Myung-Min; Baek, Jeong Heum; Beak, Jeong Heum; Lee, Jung Nam; Park, Sanghui; Lee, Won-Suk

    2009-08-31

    Intrabdominal actinomycosis is difficult to diagnose preoperatively. This chronic infection has a propensity to mimic many other diseases and may present with a wide variety of symptoms. The aim of this study was to evaluate the characteristic clinical features with review of the literature. We retrospectively analyzed 22 patients with intrabdominal actinomycosis between January 2000 and January 2006. There were two men and 20 women with a mean age of 42.8 years (range, 24-69). Twelve patients presented with masses or abdominal pain, whereas 3 patients presented with acute appendicitis. The rate of performing an emergency surgery was 50% due to symptoms of peritonitis. The mean size of tumor was 5.5 cm (range, 2.5-11.0). Sixty percent (n = 12) of female patients had intrauterine device (IUD). The average time to definite diagnosis was 10.6 days. Intrabdominal abdominal actinomycosis must first be suspected in any women with a history of current or recent IUD use who presents abdominal pain. If recognized preoperatively, a limited surgical procedure, may spare the patient from an extensive operation.

  18. TEM-187, a new extended-spectrum β-lactamase with weak activity in a Proteus mirabilis clinical strain.

    Science.gov (United States)

    Corvec, Stéphane; Beyrouthy, Racha; Crémet, Lise; Aubin, Guillaume Ghislain; Robin, Frédéric; Bonnet, Richard; Reynaud, Alain

    2013-05-01

    A Proteus mirabilis clinical strain (7001324) was isolated from urine sample of a patient hospitalized in a long-term-care facility. PCR and cloning experiments performed with this strain identified a novel TEM-type β-lactamase (TEM-187) differing by four amino acid substitutions (Leu21Phe, Arg164His, Ala184Val, and Thr265Met) from TEM-1. This characterization provides further evidence for the diversity of extended-spectrum β-lactamases (ESBL) produced by P. mirabilis and for their potential spread to other Enterobacteriaceae due to a lack of sensitive detection methods used in daily practice.

  19. Digit-sucking: a review of the literature, clinical observations and treatment recommendations.

    Science.gov (United States)

    Van Norman, R A

    1997-01-01

    Prolonged digit-sucking habits can have a negative impact on dental, speech, physical and emotional development. Children can be helped to eliminate their sucking habits quickly, without coercion, and in a positive way. Admittedly, most of my data is based purely on clinical observation. However, clinical observation is the basis for classical scientific investigation. I welcome this investigation; it is long overdue. Much of the literature available to parents appears to take a rather cavalier attitude with regard to the dental consequences of sucking habits. Parents are frequently left with the impression that no harm is done to the teeth. This perspective is based on the assumption that most children stop the sucking behavior before permanent teeth erupt into the mouth. Therefore, any dental malocclusion in the primary teeth will often be transitional or will spontaneously self-correct. However, as demonstrated by Kelly, et al (1973), millions of children do not discontinue their sucking habits before permanent teeth erupt. In addition, stress levels in today's world are probably significantly greater than when this study was done. Because stress is a powerful stimulus for the sucking activity, it is highly probable that if a similar study were done today, it would produce a substantially greater number of individuals with prolonged sucking habits. The active pursuit of insurance benefits for the Certified Orofacial Myologist providing therapy for the elimination of these habits will be germane to prevention. Research is needed to accomplish this goal including: investigation of the incidence of prolonged digit-sucking habits; the impact of these habits on the entire stomatognathic system, speech development and emotional health; efficacy of treatment (including psychological response) both through the utilization of habit appliances and motivational therapy. The Certified Orofacial Myologist provides many valuable therapeutic programs to enhance dental and

  20. The relationship between waiting time for radiotherapy and clinical outcomes: A systematic review of the literature

    International Nuclear Information System (INIS)

    Chen Zheng; King, Will; Pearcey, Robert; Kerba, Marc; Mackillop, William J.

    2008-01-01

    Purpose: To synthesize the direct clinical evidence relating waiting times (WTs) for radiotherapy (RT) to the outcomes of RT. Methods and materials: We did a systematic review of the literature between 1975 and 2005 to identify clinical studies describing the relationship between WTs and outcomes of RT. Only high quality (HQ) studies that had adequately controlled for confounding factors were included in the primary analysis. WTs that had originally been reported as a categorical variable were converted to a continuous variable based on the distribution of WTs in each category. Meta-analyses were done using a fixed-effect model. Results: The systematic review identified 44 relevant studies. Meta-analyses of 20 HQ studies of local control demonstrated a significant increase in the risk of local failure with increasing WT, RR localrecurrence/month = 1.14, 95% Confidence Intervals (CI): 1.09-1.21. For post-operative RT for breast cancer; RR localrecurrence/month = 1.11, 95%CI: 1.04-1.19. For post-operative RT for head and neck cancer, RR localrecurrenc/month = 1.28, 95%CI: 1.08-1.52. For definitive RT for head and neck cancer, RR localrecurrence/month = 1.15, 95%CI: 1.02-1.29. There was little evidence of any association between WTs and the risk of distant metastasis. Meta-analyses of the 6 HQ studies of breast cancer showed RR metastasis/month = 1.04, 95%CI: 0.98-1.09. Meta-analyses of 4 HQ studies of breast cancer showed no significant decrease in survival with increasing WT, RR death/month = 1.06, 95%CI: 0.97-1.16, but there was a marginally significant decrease in survival in 4 HQ studies of head and neck cancer, RR death/month = 1.16, 95%CI: 1.02-1.32. Conclusions: The risk of local recurrence increases with increasing WTs for RT. The increase in local recurrence rate may translate into decreased survival in some clinical situations. WTs for RT should be as short as reasonably achievable

  1. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

    Directory of Open Access Journals (Sweden)

    Ullmann Reinhard

    2011-08-01

    Full Text Available Abstract Background Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schizophrenia. Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability. Methods 99 patients with severe intellectual disability and resemblance to Pitt-Hopkins syndrome and/or suspected recessive inheritance were screened for mutations in CNTNAP2 and NRXN1. Molecular karyotyping was performed in 45 patients. In 8 further patients with variable intellectual disability and heterozygous deletions in either CNTNAP2 or NRXN1, the remaining allele was sequenced. Results By molecular karyotyping and mutational screening of CNTNAP2 and NRXN1 in a group of severely intellectually disabled patients we identified a heterozygous deletion in NRXN1 in one patient and heterozygous splice-site, frameshift and stop mutations in CNTNAP2 in four patients, respectively. Neither in these patients nor in eight further patients with heterozygous deletions within NRXN1 or CNTNAP2 we could identify a defect on the second allele. One deletion in NRXN1 and one deletion in CNTNAP2 occurred de novo, in another family the deletion was also identified in the mother who had learning difficulties, and in all other tested families one parent was shown to be healthy carrier of the respective deletion or mutation. Conclusions We report on patients with heterozygous defects in CNTNAP2 or NRXN1 associated with severe intellectual disability, which has only been reported for recessive defects before. These results expand the spectrum of phenotypic severity in patients with heterozygous defects in either gene. The large variability between severely affected patients and mildly affected or asymptomatic carrier parents might suggest the presence of a second hit, not

  2. Emerging Perils of Extended Spectrum β-Lactamase Producing Enterobacteriaceae Clinical Isolates in a Teaching Hospital of Nepal

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    Narayan Prasad Parajuli

    2016-01-01

    Full Text Available Introduction. Infections due to extended spectrum β-lactamase producing Enterobacteriaceae are on the rise. They pose serious public health problems due to their resistance to large number of antibiotics. However, little is known about the genotypes of ESBL from Nepal. Therefore, the study presents results of phenotypic and molecular characterization of ESBL producing Escherichia coli and Klebsiella spp. isolated from various clinical specimens in a tertiary care teaching hospital of Nepal. Methods. A total of 172 Enterobacteriaceae clinical isolates recovered from various clinical specimens were analyzed for their antibiotic susceptibility test. Detection of ESBLs was carried out using combination disk test and multiplex PCR for their genotypes (CTX-M, SHV, and TEM. Results. Out of 172 clinical isolates, 70 (40.6% of them were found ESBL producers. The major source of ESBL producers was urinary tract samples and the highest ESBL production was observed in Escherichia coli (46.5%. Among ESBL genotypes, CTX-M (91.4% was most predominant, followed by TEM (65.7% and SHV (11.4% in both of the isolates. Conclusions. High level of drug resistance and ESBL production was observed among the clinical isolates. There is a need for longitudinal and nationwide surveillance for drug resistance in clinical isolates and antimicrobial stewardship is necessary to guide the appropriate and judicious antibiotic use.

  3. Emerging Perils of Extended Spectrum β-Lactamase Producing Enterobacteriaceae Clinical Isolates in a Teaching Hospital of Nepal.

    Science.gov (United States)

    Parajuli, Narayan Prasad; Maharjan, Pooja; Joshi, Govardhan; Khanal, Puspa Raj

    2016-01-01

    Introduction . Infections due to extended spectrum β -lactamase producing Enterobacteriaceae are on the rise. They pose serious public health problems due to their resistance to large number of antibiotics. However, little is known about the genotypes of ESBL from Nepal. Therefore, the study presents results of phenotypic and molecular characterization of ESBL producing Escherichia coli and Klebsiella spp. isolated from various clinical specimens in a tertiary care teaching hospital of Nepal. Methods . A total of 172 Enterobacteriaceae clinical isolates recovered from various clinical specimens were analyzed for their antibiotic susceptibility test. Detection of ESBLs was carried out using combination disk test and multiplex PCR for their genotypes (CTX-M, SHV, and TEM). Results . Out of 172 clinical isolates, 70 (40.6%) of them were found ESBL producers. The major source of ESBL producers was urinary tract samples and the highest ESBL production was observed in Escherichia coli (46.5%). Among ESBL genotypes, CTX-M (91.4%) was most predominant, followed by TEM (65.7%) and SHV (11.4%) in both of the isolates. Conclusions . High level of drug resistance and ESBL production was observed among the clinical isolates. There is a need for longitudinal and nationwide surveillance for drug resistance in clinical isolates and antimicrobial stewardship is necessary to guide the appropriate and judicious antibiotic use.

  4. A proteomic network approach across the ALS-FTD disease spectrum resolves clinical phenotypes and genetic vulnerability in human brain.

    Science.gov (United States)

    Umoh, Mfon E; Dammer, Eric B; Dai, Jingting; Duong, Duc M; Lah, James J; Levey, Allan I; Gearing, Marla; Glass, Jonathan D; Seyfried, Nicholas T

    2018-01-01

    Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with overlap in clinical presentation, neuropathology, and genetic underpinnings. The molecular basis for the overlap of these disorders is not well established. We performed a comparative unbiased mass spectrometry-based proteomic analysis of frontal cortical tissues from postmortem cases clinically defined as ALS, FTD, ALS and FTD (ALS/FTD), and controls. We also included a subset of patients with the C9orf72 expansion mutation, the most common genetic cause of both ALS and FTD Our systems-level analysis of the brain proteome integrated both differential expression and co-expression approaches to assess the relationship of these differences to clinical and pathological phenotypes. Weighted co-expression network analysis revealed 15 modules of co-expressed proteins, eight of which were significantly different across the ALS-FTD disease spectrum. These included modules associated with RNA binding proteins, synaptic transmission, and inflammation with cell-type specificity that showed correlation with TDP-43 pathology and cognitive dysfunction. Modules were also examined for their overlap with TDP-43 protein-protein interactions, revealing one module enriched with RNA-binding proteins and other causal ALS genes that increased in FTD/ALS and FTD cases. A module enriched with astrocyte and microglia proteins was significantly increased in ALS cases carrying the C9orf72 mutation compared to sporadic ALS cases, suggesting that the genetic expansion is associated with inflammation in the brain even without clinical evidence of dementia. Together, these findings highlight the utility of integrative systems-level proteomic approaches to resolve clinical phenotypes and genetic mechanisms underlying the ALS-FTD disease spectrum in human brain. © 2017 The Authors. Published under the terms of the CC BY 4.0 license.

  5. Clinical Features of Patients with Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Hai Chen

    2016-01-01

    Conclusion: The different CSF features combined with clinical, magnetic resonance imaging, and serum characteristics between Chinese patients with MS and NMOSD could assist in the differential diagnosis.

  6. Surgical and clinical efficacy of sacroiliac joint fusion: a systematic review of the literature.

    Science.gov (United States)

    Zaidi, Hasan A; Montoure, Andrew J; Dickman, Curtis A

    2015-07-01

    The sacroiliac joint (SIJ) and surgical intervention for treating SIJ pain or dysfunction has been a topic of much debate in recent years. There has been a resurgence in the implication of this joint as the pain generator for many patients experiencing low-back pain, and new surgical methods are gaining popularity within both the orthopedic and neurosurgical fields. There is no universally accepted gold standard for diagnosing or surgically treating SIJ pain. The authors systematically reviewed studies on SIJ fusion in the neurosurgical and orthopedic literature to investigate whether sufficient evidence exists to support its use. A literature search was performed using MEDLINE, Google Scholar, and OvidSP-Wolters Kluwer Health for all articles regarding SIJ fusion published from 2000 to 2014. Original, peer-reviewed, prospective or retrospective scientific papers with at least 2 patients were included in the study. Exclusion criteria included follow-up shorter than 1-year, nonsurgical treatment, inadequate clinical data as determined by 2 independent reviewers, non-English manuscripts, and nonhuman subjects. A total of 16 peer-reviewed journal articles met the inclusion criteria: 5 consecutive case series, 8 retrospective studies, and 3 prospective cohort studies. A total of 430 patients were included, of whom 131 underwent open surgery and 299 underwent minimally invasive surgery (MIS) for SIJ fusion. The mean duration of follow-up was 60 months for open surgery and 21 months for MIS. SIJ degeneration/arthrosis was the most common pathology among patients undergoing surgical intervention (present in 257 patients [59.8%]), followed by SIJ dysfunction (79 [18.4%]), postpartum instability (31 [7.2%]), posttraumatic (28 [6.5%]), idiopathic (25 [5.8%]), pathological fractures (6 [1.4%]), and HLA-B27+/rheumatoid arthritis (4 [0.9%]). Radiographically confirmed fusion rates were 20%-90% for open surgery and 13%-100% for MIS. Rates of excellent satisfaction, determined by

  7. Mapping the interprofessional education landscape for students on rural clinical placements: an integrative literature review.

    Science.gov (United States)

    Walker, Lorraine; Cross, Merylin; Barnett, Tony

    2018-05-01

    Interprofessional collaboration and effective teamwork are core to optimising rural health outcomes; however, little is known about the opportunities available for interprofessional education (IPE) in rural clinical learning environments. This integrative literature review addresses this deficit by identifying, analysing and synthesising the research available about the nature of and potential for IPE provided to undergraduate students undertaking rural placements, the settings and disciplines involved and the outcomes achieved. An integrative review method was adopted to capture the breadth of evidence available about IPE in the rural context. This integrative review is based on a search of nine electronic databases: CINAHL, Cochrane Library, EMBASE, MEDLINE, ProQuest, PubMed, SCOPUS, Web of Science and Google Scholar. Search terms were adapted to suit those used by different disciplines and each database and included key words related to IPE, rurality, undergraduate students and clinical placement. The inclusion criteria included primary research and reports of IPE in rural settings, peer reviewed, and published in English between 2000 and mid-2016. This review integrates the results of 27 primary research studies undertaken in seven countries: Australia, Canada, USA, New Zealand, the Philippines, South Africa and Tanzania. Despite geographical, cultural and health system differences, all of the studies reviewed were concerned with developing collaborative, interprofessional practice-ready graduates and adopted a similar mix of research methods. Overall, the 27 studies involved more than 3800 students (range 3-1360) from 36 disciplinary areas, including some not commonly associated with interprofessional education, such as theology. Interprofessional education was provided in a combination of university and rural placement settings including hospitals, community health services and other rural venues. The education activities most frequently utilised were

  8. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2014-01-01

    . Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo......-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye...... anomaly, was 3.8 per 100,000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder....

  9. Mantegna Tarochi in Clinical Setting: Sebuah Studi Literatur Penggunaan Tarot Di Dalam Asesmen Psikologis

    OpenAIRE

    Putra, Rangga Wirianto

    2015-01-01

    This literature study aims to look more closely what if the Tarot cards are used as an assessment tool in transpersonal psychology. In this case, the Tarot cards used are Mantegna Tarocchi - E-series made in Italy in the year 1465. The study of literature discusses the origins of Tarot more comprehensively to do with the Transpersonal Psychology approach, where Transpersonal Psychology approach is basically see humans based body, mind / mental, soul and spirit. This literature study using his...

  10. Testing for Gluten-Related Disorders in Clinical Practice: The Role of Serology in Managing the Spectrum of Gluten Sensitivity

    Directory of Open Access Journals (Sweden)

    David Armstrong

    2011-01-01

    Full Text Available Immunoglobulin A tissue transglutaminase is the single most efficient serological test for the diagnosis of celiac disease. It is well known that immunoglobulin A tissue transglutaminase levels correlate with the degree of intestinal damage, and that values can fluctuate in patients over time. Serological testing can be used to identify symptomatic individuals that need a confirmatory biopsy, to screen at-risk populations or to monitor diet compliance in patients previously diagnosed with celiac disease. Thus, interpretation of serological testing requires consideration of the full clinical scenario. Antigliadin tests are no longer recommended for the diagnosis of classical celiac disease. However, our understanding of the pathogenesis and spectrum of gluten sensitivity has improved, and gluten-sensitive irritable bowel syndrome patients are increasingly being recognized. Studies are needed to determine the clinical utility of antigliadin serology in the diagnosis of gluten sensitivity.

  11. Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.

    Science.gov (United States)

    Chacón-Camacho, Oscar; Arce-Gonzalez, Rocio; Granillo-Alvarez, Mariella; Flores-Limas, Sanjuanita; Ramírez, Magdalena; Zenteno, Juan C

    2013-12-01

    To present the results of the clinical and molecular analyses of a familial case of Wolfram Syndrome (WFS) associated with a novel ocular anomaly. Full ophthalmologic examination was performed in two WFS siblings. Visante OCT imaging was used for assessing anterior segment anomalies. Genetic analysis included PCR amplification and exon-by-exon nucleotide sequencing of the WFS1 gene. Ocular anomalies in both affected siblings included congenital cataract, glaucoma, and optic atrophy. Interestingly, microspherophakia, a feature that has not been previously associated with WFS, was observed in both siblings. Genetic analysis disclosed a novel c.1525_1539 homozygous deletion in exon 8 of WFS1 in DNA from both affected patients. The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome.

  12. The relationship between carers' report of autistic traits and clinical diagnoses of autism spectrum disorders in adults with intellectual disability.

    Science.gov (United States)

    Bhaumik, Sabyasachi; Tyrer, Freya; Barrett, Mary; Tin, Nyunt; McGrother, Catherine W; Kiani, Reza

    2010-01-01

    It is often difficult to determine the triad of impairments and whether autistic features are the consequence of intellectual impairment or autism spectrum disorders in people with intellectual disability (ID). The aim of the current study was to investigate the relationship between carer-reported autistic traits and independent diagnoses of autism spectrum disorders (ASD). Data were collected on carers' subjective report of autistic traits and clinical diagnoses of ASD. Of 1145 adults with ID identified, 220 (19%) individuals had a diagnosis of ASD, and 778 (68%) individuals had at least one autistic trait. Optimal sensitivity and specificity were achieved with two or more autistic traits (sensitivity 63%; specificity 79%) and the positive predictive value increased substantially as the number of autistic traits increased. However, a significant proportion of individuals with ID who did not have a diagnosis of ASD also displayed autistic traits. Our findings suggest that in the absence of other measures, the presence of autistic traits can serve as a useful proxy measure for ASD in research (and/or clinical settings). However, although information on autistic traits may help healthcare practitioners to identify people with possible ASD, it cannot be used alone to make a formal diagnosis. 2010 Elsevier Ltd. All rights reserved.

  13. Serum Cytokine Responses over the Entire Clinical-Immunological Spectrum of Human Leishmania (L. infantum chagasi Infection

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    Patrícia Karla Ramos

    2016-01-01

    Full Text Available The clinical-immunological spectrum of human Leishmania (L. infantum chagasi infection in Amazonian Brazil was recently reviewed based on clinical, DTH, and IFAT (IgG evaluations that identified five profiles: three asymptomatic (asymptomatic infection, AI; subclinical resistant infection, SRI; and indeterminate initial infection, III and two symptomatic (symptomatic infection, SI; American visceral leishmaniasis, AVL; and subclinical oligosymptomatic infection, SOI. TNF-α, IL-4, IL-6, and IL-10 serum cytokines were analyzed using multiplexed Cytometric Bead Array in 161 samples from endemic areas in the Brazilian Amazon: SI [AVL] (21 cases, III (49, SRI (19, SOI (12, AI (36, and a control group [CG] (24. The highest IL-6 serum levels were observed in the SI profile (AVL; higher IL-10 serum levels were observed in SI than in SOI or CG and in AI and III than in SOI; higher TNF-α serum levels were seen in SI than in CG. Positive correlations were found between IL-6 and IL-10 serum levels in the SI and III profiles and between IL-6 and TNF-α and between IL-4 and TNF-α in the III profile. These results provide strong evidence for associating IL-6 and IL-10 with the immunopathogenesis of AVL and help clarify the role of these cytokines in the infection spectrum.

  14. Critical reading and critical thinking--study design and methodology: a personal approach on how to read the clinical literature.

    Science.gov (United States)

    Lipman, Timothy O

    2013-04-01

    The volume of medical literature grows exponentially. Yet we are faced with the necessity to make clinical decisions based on the availability and quality of scientific information. The general strength (reliability, robustness) of any interpretation that guides us in clinical decision making is dependent on how information was obtained. All information and medical studies and, consequently, all conclusions are not created equal. It is incumbent upon us to be able to assess the quality of the information that guides us in the care of our patients. Being able to assess medical literature critically requires use of critical reading and critical thinking skills. To achieve these skills, to be able to analyze medical literature critically, takes a combination of education and practice, practice, and more practice.

  15. Modafinil in Forensic and Clinical Toxicology-Case Reports, Analytics and Literature.

    Science.gov (United States)

    Radünz, Lars; Reuter, Hannah; Andresen-Streichert, Hilke

    2018-06-01

    Modafinil is used because of its wakefulness-promoting properties for treatment of diseases associated with extreme sleepiness (i.e., narcolepsy). Additionally, it is misused as a "cognitive enhancer" to increase alertness and to improve concentration. We present modafinil concentrations in serum samples in five cases of our routine work measured by high-performance liquid chromatography coupled with a photo diode array detector after solid-phase extraction. One sample was analyzed for clinical toxicology purposes. The other four were investigated for the police: three cases of driving under the influence of drugs and one case of bodily harm. Sample preparation consisted of solid-phase extraction using Bond Elut® C18 columns. Papaverine was used as internal standard. Chromatographic separation was carried out using a Polaris C18-A column in an isocratic run. Wavelengths used for UV-detection were 220 nm for modafinil and 239 nm for the internal standard, respectively. The method was validated with a reduced validation design for rare analytes. A six-point-calibration from 0.5 to 5.0 mg/L, covering the therapeutic range (0.9-3.3 mg/L), was used for quantification. Concentrations in serum were in the range of 1.3 to ~34 mg/L (median: 3.6 mg/L; mean: 9.0 mg/L). To our knowledge, there are only few publications concerning the serum concentrations of modafinil in cases of (suspected) misuse, forensic cases or intoxications. In our discussion, the serum concentrations we determined are compared with the levels described in the literature so far.

  16. Clinical importance of the anterior choroidal artery: a review of the literature.

    Science.gov (United States)

    Yu, Jing; Xu, Ning; Zhao, Ying; Yu, Jinlu

    2018-01-01

    The anterior choroidal artery (AChA) is a critical artery in brain physiology and function. The AChA is involved in many diseases, including aneurysm, brain infarct, Moyamoya disease (MMD), brain tumor, arteriovenous malformation (AVM), etc. The AChA is vulnerable to damage during the treatment of these diseases and is thus a very important vessel. However, a comprehensive systematic review of the importance of the AChA is currently lacking. In this study, we used the PUBMED database to perform a literature review of the AChA to increase our understanding of its role in neurophysiology. Although the AChA is a small thin artery, it supplies an extremely important region of the brain. The AChA consists of cisternal and plexal segments, and the point of entry into the choroidal plexus is known as the plexal point. During treatment for aneurysms, tumors, AVM or AVF, the AChA cisternal segments should be preserved as a pathway to prevent the infarction of the AChA target region in the brain. In MMD, a dilated AChA provides collateral flow for posterior circulation. In brain infarcts, rapid treatment is necessary to prevent brain damage. In Parkinson disease (PD), the role of the AChA is unclear. In trauma, the AChA can tear and result in intracranial hematoma. In addition, both chronic and non-chronic branch vessel occlusions in the AChA are clinically silent and should not deter aneurysm treatment with flow diversion. Based on the data available, the AChA is a highly essential vessel.

  17. Clinical impact of a pharmacist-led inpatient anticoagulation service: a review of the literature

    Directory of Open Access Journals (Sweden)

    Lee T

    2016-05-01

    Full Text Available Tiffany Lee, Erin Davis, Jason Kielly School of Pharmacy, Memorial University, St John's, NL, Canada Background: Anticoagulant therapies provide management options for potentially life-threatening thromboembolic conditions. They also carry significant safety risks, requiring careful consideration of medication dose, close monitoring, and follow-up. Inpatients are particularly at risk, considering the widespread use of anticoagulants in hospitals. This has prompted the introduction of safety goals for anticoagulants in Canada and the USA, which recommend increased pharmacist involvement to reduce patient harm. The goal of this review is to evaluate the efficacy and safety of pharmacist-led inpatient anticoagulation services compared to usual or physician-managed care. Methods: This narrative review includes articles identified through a literature search of PubMed, Embase, and International Pharmaceutical Abstracts databases, as well as hand searches of the references of relevant articles. Full publications of pharmacist-managed inpatient anticoagulation services were eligible if they were published in English and assessed clinical outcomes. Results: Twenty-six studies were included and further divided into two categories: 1 autonomous pharmacist-managed anticoagulation programs (PMAPs and 2 pharmacist recommendation. Pharmacist management of heparin and warfarin appears to result in improvements in some surrogate outcomes (international normalized ratio [INR] stability and time in INR goal range, while results for others are mixed (time to therapeutic INR, length of stay, and activated partial thromboplastin time [aPTT] measures. There is also some indication that PMAPs may be associated with reduced patient mortality. When direct thrombin inhibitors are managed by pharmacists, there seems to be a shorter time to therapeutic aPTT and a greater percentage of time in the therapeutic range, as well as a decrease in the frequency of medication

  18. Using Cognitive Behavior Therapy in Clinical Work with African American Children and Adolescents: A Review of the Literature

    Science.gov (United States)

    Wilson, Courtney J.; Cottone, R. Rocco

    2013-01-01

    A comprehensive review of the literature on clinical work with African American youth with cognitive behavior therapy (CBT) is presented. The strengths and limitations of CBT in relation to this population are outlined. Although CBT shows promise in helping, research on the efficacy and effectiveness of CBT in this group is lacking. (Contains 3…

  19. Solitary Laryngeal Metastasis from Transitional Cell Carcinoma of the Kidney: Clinical Case and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Tarek Assi

    2015-01-01

    Full Text Available The urogenital tract is a rare origin of laryngeal metastasis; transitional cell carcinoma with laryngeal metastases had never been reported previously. In this paper, we describe the clinical and pathological characteristics, evolution, and treatment of the first reported case of a laryngeal metastasis of a TCC followed by a brief review of the literature.

  20. Acute Confusional Migraine: Distinct Clinical Entity or Spectrum of Migraine Biology?

    Directory of Open Access Journals (Sweden)

    Ashar M. Farooqi

    2018-02-01

    Full Text Available The goal of this review is to explore the literature reports of acute confusional migraine (ACM including patient characteristics, migraine symptomatology, and proposed diagnostic criteria. A literature review was conducted using PubMed, Scopus and Web of Science using the terms “confusional migraine” and “confusional state in migraine”. All the relevant articles from 1970 to 2016 were included. A total of 120 patients were found in the literature. Most of the cases were seen in the pediatric population with a slight male predominance. Personal or family history of migraine was common. Most patients had a headache prior to the confusional state. In addition to confusion and agitation, some developed visual (32.5% and/or sensory symptoms (19% and/or speech problems (39% either prior to or during the confusional state. Data on treatment outcomes is lacking. Patients with most common forms of migraine report attention and cognitive disturbances but awareness remains intact as opposed to patients with ACM. ACM is a distinct entity and should be included as part of the appendix of International Classification of Headache Disoders-3 beta version (ICHD-3β criteria. Prospective studies are needed to further study this disorder and its association with other migraine forms.

  1. Association of Rorschach and MMPI psychosis indicators and schizophrenia spectrum diagnoses in a Russian clinical sample.

    Science.gov (United States)

    Ritsher, Jennifer Boyd

    2004-08-01

    In this study, I investigated the relationships among psychological test variables and schizophrenia spectrum diagnoses in a Russian sample of 180 psychiatric patients. Schizophrenia is understood somewhat differently in Russia than in the West. Analyses compared Rorschach (SCZI, PTI; Exner, 2001) and MMPI (Berezin, Mitroshinkov, & Sokolova, 1994) psychosis indicators (Sc, Sc3, Sc6, and BIZ) and 3 diagnostic systems: (a) Russian traditional, (b) the Russian-modified International Classification of Diseases (9th ed. [ICD-9]; Ministerstvo Zdravokhraneniya SSSR, 1982), and (c) the nonmodified ICD-10 (World Health Organization, 1992; comparable to the Diagnostic and Statistical Manual of Mental Disorders [4th ed.], American Psychiatric Association, 1994). Results showed modest support for the SCZI and PTI but not the MMPI indicators. While the field awaits further evidence, psychologists should proceed with caution when using the Rorschach and MMPI to assess for psychosis among Russians.

  2. The Molecular Genetics of Autism Spectrum Disorders: Genomic Mechanisms, Neuroimmunopathology, and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Daniel J. Guerra

    2011-01-01

    Full Text Available Autism spectrum disorders (ASDs have become increasingly common in recent years. The discovery of single-nucleotide polymorphisms and accompanying copy number variations within the genome has increased our understanding of the architecture of the disease. These genetic and genomic alterations coupled with epigenetic phenomena have pointed to a neuroimmunopathological mechanism for ASD. Model animal studies, developmental biology, and affective neuroscience laid a foundation for dissecting the neural pathways impacted by these disease-generating mechanisms. The goal of current autism research is directed toward a systems biological approach to find the most basic genetic and environmental causes to this severe developmental disease. It is hoped that future genomic and neuroimmunological research will be directed toward finding the road toward prevention, treatment, and cure of ASD.

  3. Affective experience and motivated behavior in schizophrenia spectrum disorders: Evidence from clinical and nonclinical samples.

    Science.gov (United States)

    Lui, Simon S Y; Shi, Yan-Fang; Au, Angie C W; Li, Zhi; Tsui, Chi F; Chan, Constance K Y; Leung, Meranda M W; Wong, Peony T Y; Wang, Yi; Yan, Chao; Heerey, Erin A; Cheung, Eric F C; Chan, Raymond C K

    2016-09-01

    Individuals with schizophrenia have been found to exhibit emotion-behavior decoupling, particularly with respect to anticipated, rather than experienced events. However, previous research has focused on how emotion valence translates into motivated behavior, ignoring the fact that emotion arousal should also modulate emotion-behavior coupling. Few studies have examined emotion-behavior coupling in prepsychotic conditions. This investigation aimed to examine the nature and extent of emotion valence- and arousal-behavior coupling across the schizophrenia spectrum. We examine how emotional valence and arousal couple with behavior in 3 groups of individuals (25 individuals with chronic schizophrenia; 27 individuals early in the disease course, and 31 individuals reporting negative schizotypal symptoms). Participants completed a task using slides to elicit emotion and evoke motivated behavior. We compared participants with their respective matched control groups to determine differences in the correspondence between self-reported emotion valence/arousal and motivated behavior. Both groups with schizophrenia reported similar affective experiences as their controls, whereas individuals reporting negative schizotypal symptoms showed "in-the-moment" anhedonia but not emotion-behavior decoupling. In addition, the schizophrenia groups' affective experiences corresponded less well to their behavior relative to controls. Our findings suggest emotion-behavior decoupling along both valence and arousal dimensions in schizophrenia but not in participants with high levels of schizotypal symptoms. Findings appear to support the idea that emotion-behavior decoupling differs in nature and extent across the schizophrenia spectrum. Interventions to recouple emotion and behavior may be particularly helpful in allowing people with schizophrenia to gain functional independence. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  4. The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

    NARCIS (Netherlands)

    Clarke, Lorne A.; Hollak, Carla E. M.

    2015-01-01

    Lysosomal storage disorders affect multiple organs including the skeleton. Disorders with prominent skeletal symptoms are type 1 and 3 Gaucher disease, the mucopolysaccharidoses, the glycoproteinoses and pycnodysostosis. Clinical manifestations range from asymptomatic radiographical evidence of bone

  5. Clinical Spectrum of Cerebral Palsy and Associated Disability in South Egypt: A Local Survey Study

    Directory of Open Access Journals (Sweden)

    Osama Abas

    2017-02-01

    CONCLUSION: Cerebral palsy in developing countries has a higher prevalence and different clinical profile regarding severity and associated disability. The perinatal and high-quality neonatal care together with physical therapy and rehabilitation programs is still lacking in developing countries.

  6. Relationship between Trypanosoma brucei rhodesiense genetic diversity and clinical spectrum among sleeping sickness patients in Uganda.

    Science.gov (United States)

    Kato, Charles D; Mugasa, Claire M; Nanteza, Ann; Matovu, Enock; Alibu, Vincent P

    2017-10-27

    Human African trypanosomiasis (HAT) due to Trypanosoma brucei rhodesiense in East and southern Africa is reported to be clinically diverse. We tested the hypothesis that this clinical diversity is associated with a variation in trypanosome genotypes. Trypanosome DNA isolated from HAT patients was genotyped using 7 microsatellite markers directly from blood spotted FTA cards following a whole genome amplification. All markers were polymorphic and identified 17 multi-locus genotypes with 56% of the isolates having replicate genotypes. We did not observe any significant clustering between isolates and bootstrap values across major tree nodes were insignificant. When genotypes were compared among patients with varying clinical presentation or outcome, replicate genotypes were observed at both extremes showing no significant association between genetic diversity and clinical outcome. Our study shows that T. b. rhodesiense isolates are homogeneous within a focus and that observed clinical diversity may not be associated with parasite genetic diversity. Other factors like host genetics and environmental factors might be involved in determining clinical diversity. Our study may be important in designing appropriate control measures that target the parasite.

  7. Does transcutaneous electrical nerve stimulation (TENS have a clinically relevant analgesic effect on different pain conditions? A literature review

    Directory of Open Access Journals (Sweden)

    Asami Naka

    2013-07-01

    Full Text Available Transcutaneous electric nerve stimulation (TENS is a standard therapy used in different painful conditions such as low back pain, diabetic polyneuropathy or arthrosis. However, literature reviews focusing on the effects and the clinical implication of this method in various painful conditions are yet scarce. The purpose of this literature research was to determine, whether TENS provides an analgesic effect on common painful conditions in clinical practice. Literature research was performed using three data bases (Pubmed, Embase, Cochrane Database, focusing on papers published in the space of time from 2007 to 2012. Papers were evaluated from two reviewers independently concerning the clinical outcome, taking account for the level of external evidence according to the German Cochrane levels of evidence (Ia – IV. 133 papers of varying methodological quality dealing with different painful conditions were selected in total. A clinically relevant analgesic effect was described in 90 painful conditions (67%. In 30 painful states (22%, the outcome was inconclusive due to the study design. No significant analgesic effect of TENS was observed in 15 painful conditions (11%. The vast majority of the papers were classified as Cochrane evidence level Ib (n = 64; 48%, followed by level Ia (n = 23; 17%, level III (n = 18; 14%, level IV (n = 15; 11%, level IIb (n = 10; 8% and level IIa (n = 3; 2%. Most of the studies revealed an analgesic effect in various painful conditions, confirming the usefulness of TENS in clinical practice.

  8. C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

    Directory of Open Access Journals (Sweden)

    Paulo Victor Sgobbi de Souza

    2015-03-01

    Full Text Available Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.

  9. The expanding spectrum of clinically-distinctive, immunotherapy-responsive autoimmune encephalopathies

    Directory of Open Access Journals (Sweden)

    Sarosh R Irani

    2012-04-01

    Full Text Available The autoimmune encephalopathies are a group of conditions that are associated with autoantibodies against surface neuronal proteins, which are likely to mediate the disease. They are established as a frequent cause of encephalitis. Characteristic clinical features in individual patients often allow the specificity of the underlying antibody to be confidently predicted. Antibodies against the VGKC-complex, mainly LGI1(leucine-rich glioma-inactivated 1, CASPR2 (contactin-associated protein 2, and contactin-2, and NMDA (N-methyl, D-aspartate -receptor are the most frequently established serological associations. In the minority of cases, an underlying tumour can be responsible. Early administration of immunotherapies, and tumour removal, where it is relevant, offer the greatest chance of improvement. Prolonged courses of immunotherapies may be required, and clinical improvements often correlate well with the antibody levels. In the present article, we have summarised recent developments in the clinical and laboratory findings within this rapidly expanding field.

  10. Cognitive enhancement therapy for adult autism spectrum disorder: Results of an 18-month randomized clinical trial.

    Science.gov (United States)

    Eack, Shaun M; Hogarty, Susan S; Greenwald, Deborah P; Litschge, Maralee Y; Porton, Shannondora A; Mazefsky, Carla A; Minshew, Nancy J

    2018-03-01

    Cognitive remediation is a promising approach to treating core cognitive deficits in adults with autism, but rigorously controlled trials of comprehensive interventions that target both social and non-social cognition over a sufficient period of time to impact functioning are lacking. This study examined the efficacy of cognitive enhancement therapy (CET) for improving core cognitive and employment outcomes in adult autism. Verbal adult outpatients with autism spectrum disorder (N = 54) were randomized to an 18-month, single-blind trial of CET, a cognitive remediation approach that integrates computer-based neurocognitive training with group-based training in social cognition, or an active enriched supportive therapy (EST) comparison focused on psychoeducation and condition management. Primary outcomes were composite indexes of neurocognitive and social-cognitive change. Competitive employment was a secondary outcome. Intent-to-treat analyses indicated that CET produced significant differential increases in neurocognitive function relative to EST (d = .46, P = .013). Both CET and EST were associated with large social-cognitive improvements, with CET demonstrating an advantage at 9 (d = .58, P = 0.020), but not 18 months (d = .27, P = 0.298). Effects on employment indicated that participants treated with CET were significantly more likely to gain competitive employment than those in EST, OR = 6.21, P = 0.023, which was mediated by cognitive improvement. CET is a feasible and potentially effective treatment for core cognitive deficits in adult autism spectrum disorder. The treatment of cognitive impairments in this population can contribute to meaningful improvements in adult outcomes. Autism Res 2018, 11: 519-530. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Cognitive enhancement therapy (CET), an 18-month cognitive remediation intervention designed to improve thinking and social understanding, was

  11. Biomechanical and clinical evaluation of posterior malleolar fractures. A systematic review of the literature

    NARCIS (Netherlands)

    van den Bekerom, Michel P. J.; Haverkamp, Daniel; Kloen, Peter

    2009-01-01

    INTRODUCTION: Ankle fractures often have involvement of the posterior malleolus. Treatment guidelines exist based on limited biomechanical evidence and still is considered controversial. The objective of this article is to review the biomechanical literature concerning changes in tibiotalar contract

  12. Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.

    Science.gov (United States)

    O'Riordan, Aisling M; McGrath, Niamh; Sharif, Farhana; Murphy, Nuala P; Franklin, Orla; Lynch, Sally Ann; O'Grady, Michael J

    2017-01-01

    Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome. Phenotypic features including neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been reported previously. Similarly, laboratory features of insulin-like growth factor 1 (IGF-1) resistance are described, including markedly elevated IGF-1 of up to +4.7 SDS. In one patient, the elevated IGF-1 declined over time and this coincided with a period of spontaneous growth acceleration. Deletions of 15q26 are a potential risk factor for aortic root dilatation, neonatal lymphedema and aplasia cutis in addition to causing growth restriction. What is Known: • Terminal deletions of chromosome 15q26 are associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. What is New: • Neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been previously described in 15q26 terminal deletions and may represent novel features. • IGF-1 levels may be increased up to 4.7 SDS.

  13. Whole-Exome Sequencing Reveals Clinically Relevant Variants in Family Affected with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Jiaxiu Zhou

    2016-10-01

    Full Text Available Chromosomal microarray (CMA has been suggested as a first tier clinical diagnostic test for ASD. High-throughput sequencing (HTS has associated hundreds of genes associated with ASD. Whole Exome Sequencing (WES was used in combination with CMA to identify clinically-relevant ASD variants. In prior work, a trio-based (father, mother, and proband WGS (Whole Genome Sequencing was used to reveal clinically-relevant de novo, or inherited, rare variants in half (16 / 32 of the ASD families in which all probands had normal, or VOUS (Variant of Uncertain Clinical Significance, CMA results. In this study, after CMA screening chromosome structural abnormalities of a proband affected with ASD, a WES was performed on the patient and parents. Some rare de novo, and inherited, variants were detected using trio-based bioinformatics analysis. ASD variants were ranked by SFARI Gene score, HPO (human phenotype ontology, protein function damage, and manual searching PubMed. Sanger sequencing was used to validated some candidate variants in family members. A de novo homozygous mutation in SPG11 (p.C209F, two inherited, compound-heterozygote mutations in SCN9A (p.Q10R and p.R1893H and BEST1 (p.A135V and p.A297V were confirmed. Heterozygous mutations in TSC1 (p.S487C and SHANK2 (p.Arg569His inherited from mother were also confirmed.

  14. The phenotypic spectrum of organic acidurias and urea cycle disorders Part 2: the evolving clinical phenotype

    NARCIS (Netherlands)

    Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut-Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco-Alonso, Javier; Boy, S. P. Nikolas; Rasmussen, Marlene Bøgehus; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès I Saladelafont, Elisenda; Couce, Maria L.; de Meirleir, Linda; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; González, Maria Julieta; Gradowska, Wanda; Grünewald, Stephanie; Honzik, Tomas; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; de Baulny, Hélène Ogier; Ortez, Carlos; Pedrón, Consuelo C.; Pintos-Morell, Guillem; Pena-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Summar, Marshall L.; Thompson, Nicholas; Vara, Roshni; Pinera, Inmaculada Vives; Walter, John H.; Williams, Monique; Lund, Allan M.; Garcia-Cazorla, Angeles; Garcia Cazorla, Angeles

    2015-01-01

    Background The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. Aims To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. Results Acquired microcephaly and movement disorders

  15. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...

  16. Collagen VI glycine mutations : Perturbed assembly and a spectrum of clinical severity

    NARCIS (Netherlands)

    Pace, Rishika A.; Peat, Rachel A.; Baker, Naomi L.; Zamurs, Laura; Moergelin, Matthias; Irving, Melita; Adams, Naomi E.; Bateman, John F.; Mowat, David; Smith, Nicholas J. C.; Lamont, Phillipa J.; Moore, Steven A.; Mathews, Katherine D.; North, Kathryn N.; Lamande, Shireen R.

    Objective: The collagen VI muscular dystrophies, Bethlem myopathy and Ullrich congenital muscular dystrophy, form a continuum of clinical phenotypes. Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they

  17. Miyoshi-type distal muscular dystrophy - Clinical spectrum in 24 Dutch patients

    NARCIS (Netherlands)

    Linssen, WHJP; Notermans, NC; VanderGraaf, Y; Wokke, JHJ; VanDoorn, PA; Howeler, CJ; Busch, HFM; DeJager, AEJ; DeVisser, M

    1997-01-01

    Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings.

  18. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

    NARCIS (Netherlands)

    Linssen, W. H.; Notermans, N. C.; van der Graaf, Y.; Wokke, J. H.; van Doorn, P. A.; Höweler, C. J.; Busch, H. F.; de Jager, A. E.; de Visser, M.

    1997-01-01

    Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings.

  19. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

    NARCIS (Netherlands)

    W.H.J.P. Linssen (Wim); N.C. Notermans (Nicolette); Y. van der Graaf (Yolanda); J.H.J. Wokke (John); P.A. van Doorn (Pieter); C.J. Höweler (Chris); H.F.M. Busch (Herman); A.E.J. de Jager (Aeiko); M. de Visser (Marianne)

    1997-01-01

    textabstractMiyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history muscle CT-scans and muscle biopsy

  20. Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency

    NARCIS (Netherlands)

    M. van der Burg (Mirjam); A.R. Gennery (Andy R.)

    2011-01-01

    textabstractSevere combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency characterized by absence of functional T lymphocytes. It is a paediatric emergency, which is life-threatening when recognized too late. The clinical presentation varies from the classical

  1. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

    NARCIS (Netherlands)

    Scoto, Mariacristina; Rossor, Alexander M.; Harms, Matthew B.; Cirak, Sebahattin; Calissano, Mattia; Robb, Stephanie; Manzur, Adnan Y.; Martínez Arroyo, Amaia; Rodriguez Sanz, Aida; Mansour, Sahar; Fallon, Penny; Hadjikoumi, Irene; Klein, Andrea; Yang, Michele; de Visser, Marianne; Overweg-Plandsoen, W. C. G. Truus; Baas, Frank; Taylor, J. Paul; Benatar, Michael; Connolly, Anne M.; Al-Lozi, Muhammad T.; Nixon, John; de Goede, Christian G. E. L.; Foley, A. Reghan; Mcwilliam, Catherine; Pitt, Matthew; Sewry, Caroline; Phadke, Rahul; Hafezparast, Majid; Chong, W. K. Kling; Mercuri, Eugenio; Baloh, Robert H.; Reilly, Mary M.; Muntoni, Francesco

    2015-01-01

    To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy

  2. Symptoms of Children with Autism Spectrum Disorder,a clinical sample

    Directory of Open Access Journals (Sweden)

    Ali Alavi Shooshtari

    2009-12-01

    Full Text Available "n Objective: "n "nThe aim of this report was to study the gender role on autismsymptoms distribution and severity in a clinical sample from Iran. Then, the results were compared with the published study from the same community population sample, Iran. "nMethod: The subjects of this retrospective study were a convenient clinical sample of the referrals of children with pervasive developmental disorders. The diagnosis was made according to DSM-IV diagnostic criteria. "nResults: "nMost of the subjects were boys. Boys were referred for evaluation more frequently than girls. The sample included 61 children and adolescents aged 2.1 to 15 years; of whom, 49 had autism. The mean age of children with autism was 7.2(SD=3.2 years. The mean of age, the diagnosis and severity of the symptoms were not related to gender . "n "n "nConclusion: Usually, those with severe cases of autism refer to clinics for treatment. Therefore, the clinical sample of children with autism is just the tip of the iceberg and they may not be the actual representative of community sample of children with autism. Preventive programs should be more focused on the screening and referring of inflected girls for service utilization .

  3. The Phenomenology and Clinical Correlates of Suicidal Thoughts and Behaviors in Youth with Autism Spectrum Disorders

    Science.gov (United States)

    Storch, Eric A.; Sulkowski, Michael L.; Nadeau, Josh; Lewin, Adam B.; Arnold, Elysse B.; Mutch, P. Jane; Jones, Anna M.; Murphy, Tanya K.

    2013-01-01

    This study investigated the phenomenology and clinical correlates of suicidal thoughts and behaviors in youth with ASD (N = 102; range 7-16 years). The presence of suicidal thoughts and behavior was assessed through the Anxiety Disorders Interview Schedule-Child and Parent Versions. Children and parents completed measures of anxiety severity,…

  4. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

    Science.gov (United States)

    Abolhassani, Hassan; Chou, Janet; Bainter, Wayne; Platt, Craig D; Tavassoli, Mahmood; Momen, Tooba; Tavakol, Marzieh; Eslamian, Mohammad Hossein; Gharagozlou, Mohammad; Movahedi, Masoud; Ghadami, Mohsen; Hamidieh, Amir Ali; Azizi, Gholamreza; Yazdani, Reza; Afarideh, Mohsen; Ghajar, Alireza; Havaei, Arash; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Cheraghi, Taher; Behniafard, Nasrin; Amin, Reza; Aleyasin, Soheila; Faridhosseini, Reza; Jabbari-Azad, Farahzad; Nabavi, Mohammamd; Bemanian, Mohammad Hassan; Arshi, Saba; Molatefi, Rasol; Sherkat, Roya; Mansouri, Mahboubeh; Mesdaghi, Mehrnaz; Babaie, Delara; Mohammadzadeh, Iraj; Ghaffari, Javad; Shafiei, Alireza; Kalantari, Najmeddin; Ahanchian, Hamid; Khoshkhui, Maryam; Soheili, Habib; Dabbaghzadeh, Abbas; Shirkani, Afshin; Nasiri Kalmarzi, Rasoul; Mortazavi, Seyed Hamidreza; Tafaroji, Javad; Khalili, Abbas; Mohammadi, Javad; Negahdari, Babak; Joghataei, Mohammad-Taghi; Al-Ramadi, Basel K; Picard, Capucine; Parvaneh, Nima; Rezaei, Nima; Chatila, Talal A; Massaad, Michel J; Keles, Sevgi; Hammarström, Lennart; Geha, Raif S; Aghamohammadi, Asghar

    2018-04-01

    Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically. Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs. Targeted DNA sequencing was performed on 243 (34.9%) patients. The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family members (P = .04) were significantly more frequent in the patients without a genetic diagnosis. An autosomal recessive disease was found in 62.9% of patients, reflecting the high rate of consanguinity in this cohort. Mutations impairing VDJ recombination and DNA repair were the most common underlying causes of CIDs. However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affected genomic loci. Patients with syndromic CIDs had a significantly lower 5-year survival rate rather than those with nonsyndromic CIDs. This study provides proof of principle for the application of targeted next-generation sequencing panels in countries with limited diagnostic resources. The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.

  5. A Systematic Scoping Literature Review of Publications Supporting Treatment Guidelines for Pediatric Atopic Dermatitis in Contrast to Clinical Practice Patterns.

    Science.gov (United States)

    Siegfried, Elaine C; Jaworski, Jennifer C; Mina-Osorio, Paola

    2018-06-01

    Treatment guidelines endorse a variety of strategies for atopic dermatitis (AD) which may vary from published data and clinical practice patterns. The objective of this review was to quantify the volume of available medical literature supporting pediatric AD treatments and compare these patterns to those recommended by published guidelines and/or clinical practice patterns. Searches of Embase (2005-2016) and abstracts from selected meetings (2014-2016) related to AD treatment in patients younger than 17 years of age yielded references that were assessed by study design, primary treatment, age groups, and AD severity. Published literature partially supports clinical guidelines, with emollients and topical medications being the most investigated. There were disproportionately more publications for topical calcineurin inhibitors (TCI) compared with topical corticosteroids (TCS); however, the search interval may have biased the results toward treatments approved near the beginning of the time frame. In contrast, publications documenting clinical practice patterns reflect greater use of emollients and TCS (over TCI), as well as systemic corticosteroids. Data is relatively limited for long-term and combination treatment, treatment of severe AD, and patients younger than 2 years of age, and completely lacking for systemic corticosteroids. This scoping review demonstrates that available medical literature largely supports published guidelines for topical therapy; however, clinical practice patterns are less aligned. There is a lack of data for older, more frequently used generic treatments, including oral antihistamines, oral antibiotics, and systemic corticosteroids. Overall, literature is lacking for long-term treatment, treatment for patients younger than 2 years of age, and for systemic treatment for severe disease. Regeneron Pharmaceuticals Inc.

  6. Gender ratio in a clinical population sample, age of diagnosis and duration of assessment in children and adults with autism spectrum disorder

    OpenAIRE

    Rutherford, Marion; McKenzie, K; Johnson, T; Catchpole, C; OHare, A; McClure, I; Forsyth, Kirsty; McCartney, Deborah; Murray, A

    2016-01-01

    This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish children and adults recently diagnosed with autism spectrum disorder. The study reports key findings that the gender ratio in this consecutively referred...

  7. Parasite density and the spectrum of clinical illness in falciparum malaria

    International Nuclear Information System (INIS)

    Ali, H.; Mahmood, T.; Ahmed, N.

    2008-01-01

    To determine the impact of percentage parasitemia and clinical features on morbidity and mortality in patients with P. falciparum malaria. Seventy-six adult patients of smear positive P. falciparum malaria were selected for the study. Parasite density was estimated on thin blood film and expressed as percentage of red blood cells parasitized. Patients were divided into three groups on the basis of parasite density. The data was analyzed on SPSS version 12. Results were expressed as percentages, mean and standard deviations. P-value 10%. Comparative analysis of the groups showed that pallor, impaired consciousness, jaundice or malarial hepatitis, thrombocytopenia, acute renal failure, DIC, and mortality were all strongly associated with the density of Plasmodium falciparum malaria (p=0.001). Parasite density was not related to age, gender and hepatosplenomegaly. High parasite density was associated with severe clinical illness, complications and mortality. Parasite counts of > 5% may be considered as hyperparasitaemia in this population of the world. (author)

  8. Reactive Retinal Astrocytic Tumor (Focal Nodular Gliosis): Report of the Clinical Spectrum of 3 Cases.

    Science.gov (United States)

    Singh, Arun D; Soto, Hansell; Bellerive, Claudine; Biscotti, Charles V

    2017-09-01

    To report 3 cases providing insight into clinical progression of reactive retinal astrocytic tumor. The clinical, imaging, and when available, the cytologic features of 3 cases of reactive retinal astrocytic tumor (focal nodular gliosis) were reviewed. A 6-year-old female, a 49-year-old man, and a 39-year-old man each developed a white retinal mass associated with laser photocoagulation, lattice degeneration, and treatment of a presumed vascular tumor, respectively. All tumors were white, circumscribed retinal masses that tended to be associated with exudation and either initially or eventually minimal vascularity. Reactive retinal astrocytic tumor can be observed in response to a degenerative, inflammatory, or ischemic retinal insult. Such tumors may progress after therapeutic intervention.

  9. Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?

    Science.gov (United States)

    Pasetti, Martina; Mazzoleni, Fabio; Novelli, Giorgio; Iascone, Maria; Bozzetti, Alberto; Selicorni, Angelo

    2016-08-01

    The Carey-Finema-Ziter syndrome (CFZS, MIM 254940) is an apparently autosomal recessively inherited disorder consisting of the combination of non-progressive congenital myopathy with Moebius and Pierre Robin sequence, facial anomalies and growth delay. Mental development has been described as normal or delayed. Temporomandibular joint (TMJ) ankylosis is the immobility of the joint caused by ankylotic fusion of the mandible to the cranial base or zygoma. It is a serious and disabling condition that may cause problems in mastication, digestion, speech, appearance, and oral hygiene. Most often is a true ankylosis of the TMJ but other pathological mechanisms are described (i.e., the fusion of the coronoid process to temporal bone or with the zygoma, or a variety of soft tissues disorders like Fibrodysplasia Ossificans Progressiva). Here we report a 2-year-old girl fitting with a clinical diagnosis of CFZS associated with a limited mouth opening in which temporomandibular joint ankylosis was suspected. Because it has been postulated that many clinical features in CFZS may only be secondary effects of brainstem anomalies and muscle weakness during development, the limited opening of the mouth observed in our patient could represent a rare clinical feature of CFZS itself. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Use of amyloid PET across the spectrum of Alzheimer's disease: clinical utility and associated ethical issues.

    Science.gov (United States)

    Leuzy, Antoine; Zimmer, Eduardo Rigon; Heurling, Kerstin; Rosa-Neto, Pedro; Gauthier, Serge

    2014-09-01

    Abstract Recent advances have made possible the in vivo detection of beta-amyloid (Aβ) pathology using positron emission tomography. While the gold standard for amyloid imaging, carbon-11 labeled Pittsburgh compound B is increasingly being replaced by fluorine-18 labeled radiopharmaceuticals, with three already approved for clinical use by US and European regulatory bodies. Appropriate use criteria proposed by an amyloid imaging taskforce convened by the Alzheimer's Association and the Society of Nuclear Medicine and Molecular Imaging recommend restricting use of this technology to the evaluation of patients with mild cognitive impairment or atypical dementia syndromes. While use among asymptomatic individuals is currently viewed as inappropriate due prognostic uncertainty, elevated levels of brain Aβ among asymptomatic individuals may represent preclinical Alzheimer's disease. Amyloid imaging is likewise expected to play a role in the design of clinical trials. Though preliminary results suggest amyloid imaging to possess clinical utility and cost-effectiveness, both domains have yet to be assessed systematically. As the field moves toward adoption of a pro-disclosure stance for amyloid imaging findings, it is imperative that a broad range of stakeholders be involved to ensure the appropriateness of emerging policies and protocols.

  11. The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

    Science.gov (United States)

    Schinzel, A

    1988-01-01

    First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition, had hypospadias, cryptorchidism, inguinal hernias, duplication with syndactyly of the phalanges of the big toe, and a bipartite right clavicle. The girl had an arachnoidal cyst, a calvarian defect, and digitalisation of the thumbs. Motor and mental development was retarded in both patients. This observation provides further evidence of probable autosomal recessive inheritance of the acrocallosal syndrome and widens the spectrum of clinical findings and the variability of features in this rare malformation syndrome. Images PMID:3385741

  12. PER-8, a Novel Extended-Spectrum β-Lactamase PER Variant, from an Acinetobacter baumannii Clinical Isolate in Nepal.

    Science.gov (United States)

    Tada, Tatsuya; Shrestha, Shovita; Shimada, Kayo; Ohara, Hiroshi; Sherchand, Jeevan B; Pokhrel, Bharat M; Kirikae, Teruo

    2017-03-01

    A novel PER-type extended-spectrum β-lactamase, PER-8, was identified in an Acinetobacter baumannii clinical isolate obtained in Nepal. The amino acid sequence of PER-8 has a substitution at position 39 (Gly to Glu) compared with that of PER-7. The k cat / K m ratio of PER-8 for aztreonam was lower than that of PER-7, while the k cat / K m ratio of PER-8 for imipenem was higher than that of PER-7. The genomic environment surrounding bla PER-8 was intI1 bla PSE-1 qacEDI sulI IS CR1-bla PER-8 gts sulI orfX on a 100-kb plasmid. Copyright © 2017 American Society for Microbiology.

  13. Overlap Between Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder: Searching for Distinctive/Common Clinical Features.

    Science.gov (United States)

    Craig, Francesco; Lamanna, Anna Linda; Margari, Francesco; Matera, Emilia; Simone, Marta; Margari, Lucia

    2015-06-01

    Recent studies support several overlapping traits between autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD), assuming the existence of a combined phenotype. The aim of our study was to evaluate the common or distinctive clinical features between ASD and ADHD in order to identify possible different phenotypes that could have a clinical value. We enrolled 181 subjects divided into four diagnostic groups: ADHD group, ASD group, ASD+ADHD group (that met diagnostic criteria for both ASD and ADHD), and control group. Intelligent quotient (IQ), emotional and behavior problems, ADHD symptoms, ASD symptoms, and adaptive behaviors were investigated through the following test: Wechsler Intelligence Scale for Children, Wechsler Preschool and Primary Scale of Intelligence or Leiter International Performances Scale Revised, Child Behavior Checklist, Conners' Rating Scales-Revised, SNAP-IV Rating Scale, the Social Communication Questionnaire, Vineland Adaptive Behavior Scales. The ASD+ADHD group differs from ADHD or ASD in some domains such as lower IQ mean level and a higher autistic symptoms severity. However, the ASD+ADHD group shares inattention and hyperactivity deficit and some emotional and behavior problems with the ADHD group, while it shares adaptive behavior impairment with ASD group. These findings provide a new understanding of clinical manifestation of ASD+ADHD phenotype, they may also inform a novel treatment target. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

  14. Clinical Spectrum, Risk Factors, and Behavioral Abnormalities among Dementia Subtypes in a North Indian Population: A Hospital-Based Study

    Directory of Open Access Journals (Sweden)

    Suman Kushwaha

    2017-07-01

    Full Text Available Background: As variability in the clinical profile of dementia subtypes had been reported with regional differences across the world, we conducted a retrospective hospital-based study in a North Indian population. Methods: We retrieved patient records from 2007 to 2014 for details of clinical evaluation, diagnosis, neuroimaging, biochemical investigations, and follow-up of 1,876 patients with dementia (PwD, and the data were analyzed using descriptive statistics. Results: Of the total PwD, Alzheimer disease (AD accounted for 30% followed by vascular dementia (VaD 26%, mixed dementia (MD 21%, Parkinson-related dementia 11%, frontotemporal dementia (FTD 7%, and infective dementia 5%. Of all PwD excluding the infective group (n = 1,777, 63% were men, 39% were from rural areas, 87% had behavioral abnormalities along with cognitive deficits, and 73% had impaired ADLs. Among dementia subtypes, a positive family history, cardiovascular and metabolic risk factors, and behavioral abnormalities were found to be distributed. However, there existed a predominance of specific behavioral pattern in each subtype. The mean duration of follow-up varied from 2.9 ± 2.3 (VaD to 3.6 ± 2.1 (AD and greater than 30% were found to be stable on treatment (except in dementia with Lewy body. Conclusions: This large hospital-based study provides a distribution pattern and clinical spectrum of dementia subtypes in a North Indian population.

  15. Cognitive behavioral therapy for early adolescents with autism spectrum disorders and clinical anxiety: a randomized, controlled trial.

    Science.gov (United States)

    Wood, Jeffrey J; Ehrenreich-May, Jill; Alessandri, Michael; Fujii, Cori; Renno, Patricia; Laugeson, Elizabeth; Piacentini, John C; De Nadai, Alessandro S; Arnold, Elysse; Lewin, Adam B; Murphy, Tanya K; Storch, Eric A

    2015-01-01

    Clinically elevated anxiety is a common, impairing feature of autism spectrum disorders (ASD). A modular CBT program designed for preteens with ASD, Behavioral Interventions for Anxiety in Children with Autism (BIACA; Wood et al., 2009) was enhanced and modified to address the developmental needs of early adolescents with ASD and clinical anxiety. Thirty-three adolescents (11-15 years old) were randomly assigned to 16 sessions of CBT or an equivalent waitlist period. The CBT model emphasized exposure, challenging irrational beliefs, and behavioral supports provided by caregivers, as well as numerous ASD-specific treatment elements. Independent evaluators, parents, and adolescents rated symptom severity at baseline and posttreatment/postwaitlist. In intent-to-treat analyses, the CBT group outperformed the waitlist group on independent evaluators' ratings of anxiety severity on the Pediatric Anxiety Rating Scale (PARS) and 79% of the CBT group met Clinical Global Impressions-Improvement scale criteria for positive treatment response at posttreatment, as compared to only 28.6% of the waitlist group. Group differences were not found for diagnostic remission or questionnaire measures of anxiety. However, parent-report data indicated that there was a positive treatment effect of CBT on autism symptom severity. The CBT manual under investigation, enhanced for early adolescents with ASD, yielded meaningful treatment effects on the primary outcome measure (PARS), although additional developmental modifications to the manual are likely warranted. Future studies examining this protocol relative to an active control are needed. Copyright © 2014. Published by Elsevier Ltd.

  16. [Wide-spectrum clinical interventions in mental health: 'care' and 'subject supposed to know' in therapeutic assistance].

    Science.gov (United States)

    Estellita-Lins, Carlos; Oliveira, Verônica Miranda; Coutinho, Maria Fernanda

    2009-01-01

    This paper discusses the theme therapeutic assistance (TA), understood as homecare-based mental health intervention. We emphasize the importance of community interventions for dealing with psychic suffering, either through reading the symptoms based on visibility, or through a psychoanalytic approach mainly concerned with listening. Lacking an independent theoretical background to support this practice, therapeutic assistance makes use of theories coming from other related fields of knowledge. Therefore, we discuss the influence of psychoanalysis and its role among broad spectrum mental health practice through clinical interventions belonging to the field of TA, focusing on two long-range operative concepts: Lacan's subject supposed to know and Winnicott's care (or caring process). Both concepts guide the clinical action and provide answers to theoretical problems within the TA field. We conclude that TA meets some requirements of the classical management of transference by means of a complex care process developed in the daily life and environment of the patient, in which desire and subjectivity are necessarily recognized although no psychotherapic setting is intentionally settled. Therapeutic assistance performs the role of an advanced clinical sentinel in the field of community psychiatry and public health.

  17. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    Science.gov (United States)

    Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; DDD study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. Methods Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. Results We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. Conclusion We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and

  18. Clinical spectrum and therapeutic approach to hepatocellular injury in patients with hyperthyroidism

    Directory of Open Access Journals (Sweden)

    Mazo DF

    2013-02-01

    Full Text Available Daniel Ferraz de Campos Mazo,1 Graciana Bandeira Salgado de Vasconcelos,1 Maria Adelaide Albergaria Pereira,2 Evandro Sobroza de Mello,3 Telesforo Bacchella,1 Flair Jose Carrilho,1 Eduardo Luiz Rachid Cançado1,41Department of Gastroenterology, 2Department of Internal Medicine, 3Department of Pathology, 4Laboratory of Immunopathology of Schistosomiasis (LIM 06, Institute of Tropical Medicine, University of São Paulo School of Medicine, São Paulo, BrazilAbstract: Liver dysfunction in patients with hyperthyroidism includes abnormalities associated with the effects of thyroid hormone excess, those secondary to drug-induced liver injury, and changes resulting from concomitant liver disease. Our goal was to describe clinical, biochemical, and histopathological patterns in patients suffering from hyperthyroidism and concomitant liver dysfunction and to propose an algorithm of procedures to facilitate diagnosis and management of such cases. This study describes seven patients with liver biochemistry abnormalities detected after diagnosis of hyperthyroidism and one with undiagnosed decompensated hyperthyroidism and acute hepatitis. Two patients showed autoantibody reactivity which, together with liver histology, suggested the diagnosis of classic autoimmune hepatitis. Three patients experienced hepatotoxicity induced by propylthiouracil, the manifestations of which ranged from a benign course after drug withdrawal in one, a longstanding course in another suggesting drug-induced autoimmune hepatitis, and a more severe clinical condition with acute liver failure in a third patient, requiring liver transplantation. The three remaining patients showed no precipitating factors other than thyroid hyperactivity itself. They could be interpreted as having a thyroid storm with different clinical presentations. In conclusion, this series of patients illustrates the most frequent patterns of hepatocellular damage associated with hyperthyroidism and provides an

  19. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

    Energy Technology Data Exchange (ETDEWEB)

    Fransen, E.; Vits, L.; Van Camp, G.; Willems, P.J. [Univ. of Antwerp (Belgium)

    1996-07-12

    Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). We review 34 L1 mutations in patients with these phenotypes. 22 refs., 3 figs., 4 tabs.

  20. Spectrum of clinical presentation and surgical management of intestinal tuberculosis at tertiary care hospital

    International Nuclear Information System (INIS)

    Abro, A.; Siddiqui, F.G.; Memon, A.S.; Akhtar, S.

    2010-01-01

    Background: Tuberculosis can involve gastrointestinal tract anywhere from mouth to anus, the peritoneum and pancreato biliary system. It has varied clinical presentations sometimes mimicking other common abdominal diseases. Tuberculosis continues to be a major problem especially in developing countries, being responsible for 7 - 10 million new cases and 6 per cent of deaths worldwide annually. Objective was to assess and evaluate various clinical presentations and management of intestinal tuberculosis at Liaquat University Hospital, Jamshoro/Hyderabad. Methods: This 3-year descriptive study was conducted on patients with diagnosed intestinal tuberculosis (by histopathology) in Surgical Unit-I, from January 2006 to December 2008. Detailed history and clinical examination was performed in all the cases. Investigations like Blood CP and ESR, Urea, RBS Electrolytes, Serum A/G Ratio, Ultrasound abdomen, X-Ray chest and abdomen were carried out in all the cases while barium meal, follow through and CT Scan abdomen were performed in selected cases. Preoperative assessment of anatomical site and variety of lesions were also noted. Results: A total of 60 patients with diagnosis of intestinal tuberculosis were admitted and operated. Diagnosis was confirmed by histopathology. Among these, 28 (46.7%) were male, and 32 (54.1%) were female. Variable clinical presentations were seen. Majority of patients (46, 76.7%) had abdominal pain, 26 (43.3%) had vomiting; abdominal distension was seen in 22 (36.7%) cases, diarrhoea and constipation in 16 patients (26.7%) and abdominal mass in 14 patients (23.3%). Majority of patients had ulcerostenotic type of tuberculosis. Single stricture of ileum was seen in 15 (25%) while multiple strictures were seen in 13 (21.7%). Ileal perforation was seen in 6 (10%) patients. Weight lo ss was seen in 40 (66.7%) patients, fever 36 (60%), night sweats 30 (50%), anorexia in 30 (50%) and pulmonary tuberculosis in 18 (30%) patients. Resection and

  1. Using literature and data to learn Bayesian networks as clinical models of ovarian tumors

    DEFF Research Database (Denmark)

    Antal, P.; Fannes, G.; Timmerman, D.

    2004-01-01

    Thanks to its increasing availability, electronic literature has become a potential source of information for the development of complex Bayesian networks (BN), when human expertise is missing or data is scarce or contains much noise. This opportunity raises the question of how to integrate...... information from free-text resources with statistical data in learning Bayesian networks. Firstly, we report on the collection of prior information resources in the ovarian cancer domain, which includes "kernel" annotations of the domain variables. We introduce methods based on the annotations and literature...

  2. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

    Science.gov (United States)

    Milosavljević, Doris; Overwater, Eline; Tamminga, Saskia; de Boer, Karin; Elting, Mariet W; van Hoorn, Marion E; Rinne, Tuula; Houweling, Arjan C

    2016-07-01

    Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively. Including our patients, a total of 52 patients have been reported with Noonan syndrome caused by a RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines that lymphatic involvement is part of this spectrum. In addition, we provide an overview of the currently described Noonan syndrome patients with RIT1 mutations in literature. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  3. Evolution of Neurodegeneration Imaging Biomarkers from Clinically Normal to Dementia in the Alzheimer Disease Spectrum

    Science.gov (United States)

    Knopman, David S.; Jack, Clifford R.; Lundt, Emily S.; Weigand, Stephen D.; Vemuri, Prashanthi; Lowe, Val J.; Kantarci, Kejal; Gunter, Jeffrey L.; Senjem, Matthew L.; Mielke, Michelle M.; Machulda, Mary M.; Roberts, Rosebud O.; Boeve, Bradley F.; Jones, David T.; Petersen, Ronald C.

    2016-01-01

    The availability of antemortem biomarkers for Alzheimer’s Disease (AD) enables monitoring the evolution of neurodegenerative processes in real time. Pittsburgh compound B (PIB) positron emission tomography (PET) was used to select participants in the Mayo Clinic Study of Aging and the Mayo Alzheimer’s Disease Research Center with elevated β-amyloid, designated as “A+,” and hippocampal volume and 18fluorodeoxyglucose (FDG) positron emission tomography were used to characterize participants as having evidence of neurodegeneration (“N+”) at the baseline evaluation. There were 145 clinically normal (CN) A+ individuals, 62 persons with mild cognitive impairment (MCI) who were A+ and 20 with A+ AD dementia. Over a period of 1–6 years, MCI A+N+ individuals showed declines in medial temporal, lateral temporal, lateral parietal, and to a lesser extent, medial parietal regions for both FDG standardized uptake value ratio (SUVR) and grey matter (GM) volume that exceeded declines seen in the CN A+N+ group. The AD dementia group showed declines in the same regions on FDG SUVR and GM volume with rates that exceeded that in MCI A+N+. Expansion of regional involvement and faster rate of neurodegeneration characterizes progression in the AD pathway. PMID:27460147

  4. Evolution of neurodegeneration-imaging biomarkers from clinically normal to dementia in the Alzheimer disease spectrum.

    Science.gov (United States)

    Knopman, David S; Jack, Clifford R; Lundt, Emily S; Weigand, Stephen D; Vemuri, Prashanthi; Lowe, Val J; Kantarci, Kejal; Gunter, Jeffrey L; Senjem, Matthew L; Mielke, Michelle M; Machulda, Mary M; Roberts, Rosebud O; Boeve, Bradley F; Jones, David T; Petersen, Ronald C

    2016-10-01

    The availability of antemortem biomarkers for Alzheimer's disease (AD) enables monitoring the evolution of neurodegenerative processes in real time. Pittsburgh compound B (PIB) positron emission tomography (PET) was used to select participants in the Mayo Clinic Study of Aging and the Mayo Alzheimer's Disease Research Center with elevated β-amyloid, designated as "A+," and hippocampal volume and (18)fluorodeoxyglucose (FDG) positron emission tomography were used to characterize participants as having evidence of neurodegeneration ("N+") at the baseline evaluation. There were 145 clinically normal (CN) A+ individuals, 62 persons with mild cognitive impairment (MCI) who were A+ and 20 with A+ AD dementia. Over a period of 1-6 years, MCI A+N+ individuals showed declines in medial temporal, lateral temporal, lateral parietal, and to a lesser extent, medial parietal regions for both FDG standardized uptake value ratio and gray matter volume that exceeded declines seen in the CN A+N+ group. The AD dementia group showed declines in the same regions on FDG standardized uptake value ratio and gray matter volume with rates that exceeded that in MCI A+N+. Expansion of regional involvement and faster rate of neurodegeneration characterizes progression in the AD pathway. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. A review of the literature to inform a best-practice clinical supervision model for midwifery students in Australia.

    Science.gov (United States)

    McKellar, Lois; Graham, Kristen

    2017-05-01

    Effective clinical supervision in midwifery programs leading to registration is essential to ensure that students can provide safe and competent woman centred care by the completion of their program. A number of different clinical supervision models exist in Australia and internationally, with varying levels of support and facilitation of student learning opportunities. In Australia, midwifery students must achieve specified learning outcomes and midwifery practice requirements to be eligible to register as a midwife. Identifying a best practice clinical supervision model for Australian midwifery students is therefore a priority for all key stakeholders, particularly education and maternity care providers. The aim of this literature review was to explore different types of clinical supervision models in order to develop and implement a best practice model in midwifery education programs. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. A systematic literature review of evidence-based clinical practice for rare diseases

    DEFF Research Database (Denmark)

    Rath, Ana; Salamon, Valérie; Peixoto, Sandra

    2017-01-01

    diseases comprise the difficulty to recruit participants because of rarity, scattering of patients, limited knowledge on natural history of diseases, difficulties to achieve accurate diagnosis and identify patients in health information systems, and difficulties choosing clinically relevant outcomes....... CONCLUSIONS: Evidence-based clinical practice for rare diseases should start by collecting clinical data in databases and registries; defining measurable patient-centred outcomes; and selecting appropriate study designs adapted to small study populations. Rare diseases constitute one of the most paradigmatic...

  7. Parent Depression and Child Anxiety: An Overview of the Literature with Clinical Implications

    Science.gov (United States)

    Colletti, Christina J. M.; Forehand, Rex; Garai, Emily; Rakow, Aaron; McKee, Laura; Fear, Jessica M.; Compas, Bruce E.

    2009-01-01

    The association of parental depression with child anxiety has received relatively little attention in the literature. In this paper we initially present several reasons for examining this relationship. We then summarize the empirical support for a link between these two variables. Finally, we discuss directions for future research and clinical…

  8. Clinical Outcomes Measures for Assessment of Longevity in the Dental Implant Literature : ORONet Approach

    NARCIS (Netherlands)

    Bassi, Francesco; Carr, Alan B.; Chang, Ting-Ling; Estafanous, Emad; Garrett, Neal R.; Happonen, Risto-Pekka; Koka, Sreenivas; Laine, Juhani; Osswald, Martin; Reintsema, Harry; Rieger, Jana; Roumanas, Eleni; Salinas, Thomas J.; Stanford, Clark M.; Wolfaardt, Johan

    2013-01-01

    The Oral Rehabilitation Outcomes Network (ORONet) Longevity Working Group undertook a search of the literature from 1995 to 2009 on randomized controlled trials related to longevity of osseointegrated implants. Outcomes measures used in these studies were identified and subjected to the OMERACT

  9. Effects of an Uncertain Literature on All Facets of Clinical Decision Making

    Science.gov (United States)

    Sammons, Morgan T.; Newman, Russ

    2010-01-01

    Greenberg (2010) is correct in his assertion that the investigational heuristic used to measure the efficacy of antidepressants is flawed. Robust placebo effects are endemic in the psychiatric literature, particularly in studies of antidepressants, and estimates of placebo responding have increased over time (Rief et al., 2009). In the case of…

  10. Use of simulation to solve outpatient clinic problems: A review of the literature

    Directory of Open Access Journals (Sweden)

    Tang Sai Hong

    2013-11-01

    Full Text Available The increasing demand for outpatient services has led to overcrowded clinics, long waiting times for patients, and extended staff working hours in outpatient clinics. Simulation tools have been used to ameliorate deficiencies in the appointment system, resource allocation, and patient flow management that are the root causes of these problems. Integrated studies that considered these three factors together produced better results than attempts to resolve individual causes. While simulation has proved to be an effective problem-solving tool for outpatient clinic management, there is still room for improvement. This paper reviews studies over the past 50 years that have applied management simulation to resolve outpatient clinic problems.

  11. Broad-spectrum antibacterial properties of metal-ion doped borate bioactive glasses for clinical applications

    Science.gov (United States)

    Ottomeyer, Megan

    Bioactive glasses with antimicrobial properties can be implemented as coatings on medical devices and implants, as well as a treatment for tissue repair and prevention of common hospital-acquired infections such as MRSA. A borate-containing glass, B3, is also undergoing clinical trials to assess wound-healing properties. The sensitivities of various bacteria to B3, B3-Ag, B3-Ga, and B3-I bioactive glasses were tested. In addition, the mechanism of action for the glasses was studied by spectroscopic enzyme kinetics experiments, Live-Dead staining fluorescence microscopy, and luminescence assays using two gene fusion strains of Escherichia coli. It was found that gram-positive bacteria were more sensitive to all four glasses than gram negative bacteria, and that a single mechanism of action for the glasses is unlikely, as the rates of catalysis for metabolic enzymes as well as membrane permeability were altered after glass exposure.

  12. Clinical Characteristics and Predictors of Outcome of Schizophrenia-Spectrum Psychosis in Children and Adolescents

    DEFF Research Database (Denmark)

    Stentebjerg-Olesen, Marie; Pagsberg, Anne K.; Fink-Jensen, Anders

    2016-01-01

    .5%]), thought disorder (65.5%), bizarre/disorganized behavior (52.8%), and flat or blunted affect/negative symptoms (52.3%/50.4%). Mean baseline Positive and Negative Syndrome Scale (PANSS)-total, positive, and negative symptom scores were 84.5 ± 10.9, 19.3 ± 4.4 and 20.8 ± 2.9. Mean baseline Clinical Global...... Impressions-Severity and Children's Global Assessment Scale/Global Assessment of Functioning (CGAS/GAF) scores were 5.0 ± 0.7 and 35.5 ± 9.1. Comorbidity was frequent, particularly posttraumatic stress disorder (34.3%), attention-deficit/hyperactivity and/or disruptive behavior disorders (33...

  13. The clinical spectrum and therapeutic management of hypocomplementemic urticarial vasculitis: data from a French nationwide study of fifty-seven patients.

    Science.gov (United States)

    Jachiet, Marie; Flageul, Béatrice; Deroux, Alban; Le Quellec, Alain; Maurier, François; Cordoliani, Florence; Godmer, Pascal; Abasq, Claire; Astudillo, Leonardo; Belenotti, Pauline; Bessis, Didier; Bigot, Adrien; Doutre, Marie-Sylvie; Ebbo, Mikaël; Guichard, Isabelle; Hachulla, Eric; Héron, Emmanuel; Jeudy, Géraldine; Jourde-Chiche, Noémie; Jullien, Denis; Lavigne, Christian; Machet, Laurent; Macher, Marie-Alice; Martel, Clotilde; Melboucy-Belkhir, Sara; Morice, Cécile; Petit, Antoine; Simorre, Bernard; Zenone, Thierry; Bouillet, Laurence; Bagot, Martine; Frémeaux-Bacchi, Véronique; Guillevin, Loïc; Mouthon, Luc; Dupin, Nicolas; Aractingi, Selim; Terrier, Benjamin

    2015-02-01

    Hypocomplementemic urticarial vasculitis (HUV) is an uncommon vasculitis of unknown etiology that is rarely described in the literature. We undertook this study to analyze the clinical spectrum and the therapeutic management of patients with HUV. We conducted a French nationwide retrospective study that included 57 patients with chronic urticaria, histologic leukocytoclastic vasculitis, and hypocomplementemia. We assessed clinical and laboratory data and evaluated the patients' cutaneous and immunologic responses to therapy. We evaluated treatment efficacy by measuring the time to treatment failure. Urticarial lesions were typically more pruritic than painful and were associated with angioedema in 51% of patients, purpura in 35%, and livedo reticularis in 14%. Extracutaneous manifestations included constitutional symptoms (in 56% of patients) as well as musculoskeletal involvement (in 82%), ocular involvement (in 56%), pulmonary involvement (in 19%), gastrointestinal involvement (in 18%), and kidney involvement (in 14%). Patients with HUV typically presented with low C1q levels and normal C1 inhibitor levels, in association with anti-C1q antibodies in 55% of patients. Hydroxychloroquine or colchicine seemed to be as effective as corticosteroids as first-line therapy. In patients with relapsing and/or refractory disease, rates of cutaneous and immunologic response to therapy seemed to be higher with conventional immunosuppressive agents, in particular, azathioprine, mycophenolate mofetil, or cyclophosphamide, while a rituximab-based regimen tended to have higher efficacy. Finally, a cutaneous response to therapy was strongly associated with an immunologic response to therapy. HUV represents an uncommon systemic and relapsing vasculitis with various manifestations, mainly, musculoskeletal and ocular involvement associated with anti-C1q antibodies, which were found in approximately half of the patients. The best strategy for treating HUV has yet to be defined

  14. An evaluation of the clinical application of the DSM-5 for the diagnosis of autism spectrum disorder.

    Science.gov (United States)

    Burns, Claire O; Matson, Johnny L

    2017-09-01

    The changes to the diagnostic criteria for autism spectrum disorder (ASD) in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) were met with much controversy by researchers, clinicians, and families of individuals with ASD. The goal of this paper is to review the literature on the impact of these changes. Areas covered: This paper reviews the major changes to diagnostic criteria from DSM-IV-TR to DSM-5. It emphasizes how these changes are hypothesized to impact prevalence rates, as well as trends in characteristics of individuals who would have met previous criteria for ASD but no longer qualify for a diagnosis under DSM-5. Policy issues such as access to services and research considerations are also briefly reviewed. Expert commentary: Researchers have found that the DSM-5 diagnostic criteria for ASD may significantly impact which children receive diagnoses, which in turn affects access to services that address impairments characteristic of this disorder. Despite the fact that the DSM-5 has now been in use for four years, fewer recent studies were identified than was expected. Future research should continue to focus on the impact of changes in criteria, as well as on translational scientific advances across disciplines.

  15. Prevalence and mechanisms of extended-spectrum cephalosporin resistance in clinical and fecal Enterobacteriaceae isolates from dogs in Ontario, Canada.

    Science.gov (United States)

    Zhang, Pauline L C; Shen, Xiao; Chalmers, Gabhan; Reid-Smith, Richard J; Slavic, Durda; Dick, Hani; Boerlin, Patrick

    2018-01-01

    There is little information on the genetic basis of resistance to the critically important extended-spectrum cephalosporins (ESCs) in Enterobacteriaceae from dogs in Canada. This study assessed the frequency of ESC resistance in Enterobacteriaceae isolated from dogs in Ontario and the distribution of major ESC resistance genes in these bacteria. A total of 542 Enterobacteriaceae were isolated from 506 clinical samples from two diagnostic laboratories in Ontario. Eighty-eight ESC-resistant Enterobacteriaceae and 217 Escherichia coli were isolated from 234 fecal samples from dogs collected at leash-free dog parks. These fecal isolates were tested for ESC resistance along with the clinical isolates. Isolates with reduced ESC susceptibility were screened for bla CMY , bla CTX-M , and bla SHV , and all CTX-M-positive isolates underwent whole-genome sequencing. The prevalence of ESC resistance in clinical Enterobacteriaceae was 10.4%. The average frequency of fecal carriage of ESC-resistant Enterobacteriaceae in healthy dogs was 26.5%. The majority of ESC-resistant isolates were E. coli and the other major Enterobacteriaceae carrying ESC resistance genes were Klebsiella pneumoniae and Proteus mirabilis. The results show that the same ESC resistance genes can be found in clinical and fecal Enterobacteriaceae in dogs. The identified E. coli sequence types (including ST131 and ST648) and CTX-M variants (including CTX-M-14, -15, and -27) support the hypothesis of transfer of resistant bacteria between humans and dogs. CTX-M-1 was frequently found in canine fecal Enterobacteriaceae, while it is still rare in human Enterobacteriaceae in Canada, thus suggesting transfer of resistant bacteria to dogs from food animals or other sources. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  16. Identifying the clinical needs and patterns of health service use of adolescent girls and women with autism spectrum disorder.

    Science.gov (United States)

    Tint, Ami; Weiss, Jonathan A; Lunsky, Yona

    2017-09-01

    Girls and women in the general population present with a distinct profile of clinical needs and use more associated health services compared to boys and men; however, research focused on health service use patterns among girls and women with Autism Spectrum Disorder (ASD) is limited. In the current study, caregivers of 61 adolescent girls and women with ASD and 223 boys and men with ASD completed an online survey. Descriptive analyses were conducted to better understand the clinical needs and associated service use patterns of girls and women with ASD. Sex/gender comparisons were made of individuals' clinical needs and service use. Adolescent girls and women with ASD had prevalent co-occurring mental and physical conditions and parents reported elevated levels of caregiver strain. Multiple service use was common across age groups, particularly among adolescent girls and women with intellectual disability. Overall, few sex/gender differences emerged, although a significantly greater proportion of girls and women accessed psychiatry and emergency department services as compared to boys and men. Though the current study is limited by its use of parent report and small sample size, it suggests that girls and women with ASD may share many of the same high clinical needs and patterns of services use as boys and men with ASD. Areas for future research are discussed to help ensure appropriate support is provided to this understudied population. Autism Res 2017, 10: 1558-1566. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

  17. Antimicrobial effects of Ferula gummosa Boiss gum against extended-spectrum β-lactamase producing Acinetobacter clinical isolates.

    Science.gov (United States)

    Afshar, Fatemeh Farid; Saffarian, Parvaneh; Hosseini, Hamideh Mahmoodzadeh; Sattarian, Fereshteh; Amin, Mohsen; Fooladi, Abbas Ali Imani

    2016-08-01

    Acinetobacter spp. are important causes of nosocomial infections. They possess various antibiotic resistance mechanisms including extended spectrum beta lactamases (ESBLs). The aim of this study was to determine antibiotic resistance profile of Acinetobacter clinical isolates especially among ESBL-producing strains and to investigate the antimicrobial effects of oleo-gum-resin extract and essential oil of Ferula gummosa Boiss. 120 Acinetobacter strains were isolated from various clinical samples of hospitalized patients in Baqiyatallah hospital, Tehran during 2011-2012. Antibiotic susceptibility test was performed on the isolates using disk diffusion method. To detect and confirm the ESBL-positive isolates, phenotypic and genotypic tests were performed. Three types of F. gummosa oleo-gum-resin extracts and essential oils were prepared and the bioactive components of F. gummosa Boiss extracts were determined by GC-Mass chromatography. F. gummosa antimicrobial activity was evaluated against standard strain of Acinetobacter baumannii (ATCC19606) as well as Acinetobacter clinical isolates using well and disk diffusion methods. Minimum inhibitory concentration (MIC) and minimum bactericidal concentration (MBC) were determined by broth microdilution method. 46 isolates were resistant to all tested antibiotics. All clinical isolates were resistant to cefotaxime. 12.94% of the isolates were phenotypically ESBL-producing among which 94.2% carried ESBL genes ( bla PER-1 , bla OXA-4 and bla CTX-M ) detected by PCR. Oleo-gum-resin of F. gummosa had significant antibacterial activity and alcoholic essential oil had higher inhibitory effect on Acinetobacter strains (MIC of 18.75 mg/ml). Ferula gummosa extract contained components with well-known antimicrobial effects.

  18. The Neuroanatomy of Autism Spectrum Disorder: An Overview of Structural Neuroimaging Findings and Their Translatability to the Clinical Setting

    Science.gov (United States)

    Ecker, Christine

    2017-01-01

    Autism spectrum disorder is a complex neurodevelopmental disorder, which is accompanied by differences in brain anatomy, functioning and brain connectivity. Due to its neurodevelopmental character, and the large phenotypic heterogeneity among individuals on the autism spectrum, the neurobiology of autism spectrum disorder is inherently difficult…

  19. Cluster analysis of obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder: clinical and genetic correlates.

    Science.gov (United States)

    Lochner, Christine; Hemmings, Sian M J; Kinnear, Craig J; Niehaus, Dana J H; Nel, Daniel G; Corfield, Valerie A; Moolman-Smook, Johanna C; Seedat, Soraya; Stein, Dan J

    2005-01-01

    Comorbidity of certain obsessive-compulsive spectrum disorders (OCSDs; such as Tourette's disorder) in obsessive-compulsive disorder (OCD) may serve to define important OCD subtypes characterized by differing phenomenology and neurobiological mechanisms. Comorbidity of the putative OCSDs in OCD has, however, not often been systematically investigated. The Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition , Axis I Disorders-Patient Version as well as a Structured Clinical Interview for Putative OCSDs (SCID-OCSD) were administered to 210 adult patients with OCD (N = 210, 102 men and 108 women; mean age, 35.7 +/- 13.3). A subset of Caucasian subjects (with OCD, n = 171; control subjects, n = 168), including subjects from the genetically homogeneous Afrikaner population (with OCD, n = 77; control subjects, n = 144), was genotyped for polymorphisms in genes involved in monoamine function. Because the items of the SCID-OCSD are binary (present/absent), a cluster analysis (Ward's method) using the items of SCID-OCSD was conducted. The association of identified clusters with demographic variables (age, gender), clinical variables (age of onset, obsessive-compulsive symptom severity and dimensions, level of insight, temperament/character, treatment response), and monoaminergic genotypes was examined. Cluster analysis of the OCSDs in our sample of patients with OCD identified 3 separate clusters at a 1.1 linkage distance level. The 3 clusters were named as follows: (1) "reward deficiency" (including trichotillomania, Tourette's disorder, pathological gambling, and hypersexual disorder), (2) "impulsivity" (including compulsive shopping, kleptomania, eating disorders, self-injury, and intermittent explosive disorder), and (3) "somatic" (including body dysmorphic disorder and hypochondriasis). Several significant associations were found between cluster scores and other variables; for example, cluster I scores were associated

  20. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

    Science.gov (United States)

    Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B; Sykut-Cegielska, Jolanta; Wijburg, Frits A; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R; Blasco-Alonso, Javier; Boy, S P Nikolas; Rasmussen, Marlene Bøgehus; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès I Saladelafont, Elisenda; Couce, Maria L; de Meirleir, Linda; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; González, Maria Julieta; Gradowska, Wanda; Grünewald, Stephanie; Honzik, Tomas; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; de Baulny, Hélène Ogier; Ortez, Carlos; Pedrón, Consuelo C; Pintos-Morell, Guillem; Pena-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Summar, Marshall L; Thompson, Nicholas; Vara, Roshni; Pinera, Inmaculada Vives; Walter, John H; Williams, Monique; Lund, Allan M; Garcia-Cazorla, Angeles; Garcia Cazorla, Angeles

    2015-11-01

    The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population. Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

  1. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management

    Directory of Open Access Journals (Sweden)

    Eun-Gyong Yoo

    2016-03-01

    Full Text Available Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in patients with normolipemic xanthomas, severe hypercholesterolemia have been reported in patients with sitosterolemia, especially in children. Sitosterolemia is caused by increased intestinal absorption and decreased biliary excretion of sterols resulting from biallelic mutations in either ABCG5 or ABCG8, which encode the sterol efflux transporter ABCG5 and ABCG8. Patients with sitosterolemia show extreme phenotypic heterogeneity, ranging from almost asymptomatic individuals to those with severe hypercholesterolemia leading to accelerated atherosclerosis and premature cardiac death. Hematologic manifestations include hemolytic anemia with stomatocytosis, macrothrombocytopenia, splenomegaly, and abnormal bleeding. The mainstay of therapy includes dietary restriction of both cholesterol and plant sterols and the sterol absorption inhibitor, ezetimibe. Foods rich in plant sterols include vegetable oils, wheat germs, nuts, seeds, avocado, shortening, margarine and chocolate. Hypercholesterolemia in patients with sitosterolemia is dramatically responsive to low cholesterol diet and bile acid sequestrants. Plant sterol assay should be performed in patients with normocholesterolemic xanthomas, hypercholesterolemia with unexpectedly good response to dietary modifications or to cholesterol absorption inhibitors, or hypercholesterolemia with poor response to statins, or those with unexplained hemolytic anemia and macrothrombocytopenia. Because prognosis can be improved by proper management, it is important to find these patients out and diagnose correctly. This review article aimed to summarize recent publications on sitosterolemia, and to suggest clinical indications for plant sterol assay.

  2. Diffuse malignant pleural mesothelioma in an urban hospital: Clinical spectrum and trend in incidence over time

    International Nuclear Information System (INIS)

    Shepherd, K.E.; Oliver, L.C.; Kazemi, H.

    1989-01-01

    This retrospective analysis reviews the clinical experience of a major urban referral hospital with diffuse malignant pleural mesothelioma during the 14-year period from 1973 through 1986. Seventy-five cases of definite or equivocal mesothelioma were identified. There were four cases of primary malignant peritoneal mesothelioma, seven cases of benign fibrous mesothelioma, and 64 cases of diffuse malignant pleural mesothelioma. In 43 cases (67%) of diffuse malignant pleural mesothelioma, there was historic evidence of asbestos exposure. In 21 cases (33%), there was no known history of asbestos exposure. An increase in annual incidence of diffuse malignant pleural mesothelioma was observed over the study period, from three cases in 1973 to ten cases in 1986. Despite greater awareness of this disease, the diagnosis remains a difficult one to establish given the nonspecific symptoms, signs and radiographic appearance, variable histologic appearance, and poor diagnostic sensitivity and specificity of thoracentesis and closed pleural biopsy. Thoracotomy, thoracoscopy, and CT-guided needle biopsies gave higher yields and are the diagnostic measures of choice when diffuse malignant pleural mesothelioma is suspected

  3. A Study of Clinical Spectrum of Dengue Fever in A Tertiary Care Centre.

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    Dr. Gargi Pathak

    2016-12-01

    Full Text Available Introduction: Dengue viruses, of the family Flaviviridae, are the most common cause of arboviral, disease in the world. We report a clinico-epidemiological study of the dengue fever from paediatric department of civil hospital Ahmedabad. This study was designed to document the presenting features, laboratory results and outcome of dengue infection in children. Methodology: A prospective study was carried from October 2014-october 2015 and total of 126 patients were studied from age group between 1 month to 12 years. A detailed history, careful clinical examination and laboratory investigations were done in all the patients. Results and Conclusions: We documented Leucopenia as an early marker than thrombocytopenia and were seen in more numbers (47% in our study which was not found in the previous studies. Most common symptom was fever with body ache (73%. Majority of patients had platelet count between 50000-1 lakh. 55% had tested positive for dengue IgM and 44.4% had tested positive for dengue NS1. Wide variety of complications like hepatitis (20.6%, myocarditis (14.2%, dengue shock (11.1%, encephalitis (4.7%, Dengue haemorrhagic fever (4.7%, ARDS (2.3% were seen, which might indicate a change in serotype and epidemiology of the Dengue. Interestingly Bradycardia was seen in increased frequency subsequent to myocarditis with simultaneously raised CPK-MB levels. There were increased cases of coinfections like malaria, enteric, hepatitis, UTI, not seen previously .Out of 126 patients 6 patients expired.

  4. Spectrum of mitochondrial genomic variation and associated clinical presentation of prostate cancer in South African men.

    Science.gov (United States)

    McCrow, John P; Petersen, Desiree C; Louw, Melanie; Chan, Eva K F; Harmeyer, Katherine; Vecchiarelli, Stefano; Lyons, Ruth J; Bornman, M S Riana; Hayes, Vanessa M

    2016-03-01

    Prostate cancer incidence and mortality rates are significantly increased in African-American men, but limited studies have been performed within Sub-Saharan African populations. As mitochondria control energy metabolism and apoptosis we speculate that somatic mutations within mitochondrial genomes are candidate drivers of aggressive prostate carcinogenesis. We used matched blood and prostate tissue samples from 87 South African men (77 with African ancestry) to perform deep sequencing of complete mitochondrial genomes. Clinical presentation was biased toward aggressive disease (Gleason score >7, 64%), and compared with men without prostate cancer either with or without benign prostatic hyperplasia. We identified 144 somatic mtDNA single nucleotide variants (SNVs), of which 80 were observed in 39 men presenting with aggressive disease. Both the number and frequency of somatic mtDNA SNVs were associated with higher pathological stage. Besides doubling the total number of somatic PCa-associated mitochondrial genome mutations identified to date, we associate mutational load with aggressive prostate cancer status in men of African ancestry. © 2015 The Authors. The Prostate published by Wiley Periodicals, Inc.

  5. Bipolar Spectrum Disorders in a Clinical Sample of Patients with Internet Addiction: Hidden Comorbidity or Differential Diagnosis?

    Science.gov (United States)

    Wölfling, Klaus; Beutel, Manfred E.; Dreier, Michael; Müller, Kai W.

    2015-01-01

    Background and Aims Behavioral addictions and bipolar disorders have a certain probability of co-occurrence. While the presence of a manic episode has been defined as an exclusion criterion for gambling disorder, no such exclusion has been formulated for Internet addiction. Methods A clinical sample of 368 treatment seekers presenting with excessive to addictive Internet use was screened for bipolar spectrum disorders using the Mood Disorder Questionnaire. Psychopathology was assessed by the Symptom Checklist 90R and a clinical interview was administered to screen for comorbid disorders. Results Comorbid bipolar disorders were more frequent in patients meeting criteria for Internet addiction (30.9%) than among the excessive users (5.6%). This subgroup showed heightened psychopathological symptoms, including substance use disorders, affective disorders and personality disorders. Further differences were found regarding frequency of Internet use regarding social networking sites and online-pornography. Discussion Patients with Internet addiction have a heightened probability for meeting criteria of bipolar disorders. It is not possible to draw conclusions regarding the direction of this association but it is recommended to implement screening for bipolar disorders in patients presenting with Internet addiction. Conclusion Similar to gambling disorder, it might prove necessary to subsume bipolar disorders as an exclusion criterion for the future criteria of Internet addiction. PMID:26132914

  6. Bipolar spectrum disorders in a clinical sample of patients with Internet addiction: hidden comorbidity or differential diagnosis?

    Science.gov (United States)

    Wölfling, Klaus; Beutel, Manfred E; Dreier, Michael; Müller, Kai W

    2015-06-01

    Behavioral addictions and bipolar disorders have a certain probability of co-occurrence. While the presence of a manic episode has been defined as an exclusion criterion for gambling disorder, no such exclusion has been formulated for Internet addiction. A clinical sample of 368 treatment seekers presenting with excessive to addictive Internet use was screened for bipolar spectrum disorders using the Mood Disorder Questionnaire. Psychopathology was assessed by the Symptom Checklist 90R and a clinical interview was administered to screen for comorbid disorders. Comorbid bipolar disorders were more frequent in patients meeting criteria for Internet addiction (30.9%) than among the excessive users (5.6%). This subgroup showed heightened psychopathological symptoms, including substance use disorders, affective disorders and personality disorders. Further differences were found regarding frequency of Internet use regarding social networking sites and online-pornography. Patients with Internet addiction have a heightened probability for meeting criteria of bipolar disorders. It is not possible to draw conclusions regarding the direction of this association but it is recommended to implement screening for bipolar disorders in patients presenting with Internet addiction. Similar to gambling disorder, it might prove necessary to subsume bipolar disorders as an exclusion criterion for the future criteria of Internet addiction.

  7. The spectrum of bone disease in 200 chronic hemodialysis patients: a correlation between clinical, biochemical and histological findings

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    Maria Eugênia Leite Duarte

    Full Text Available INTRODUCTION: Renal osteodystrophy includes the complete range of mineral metabolism disorders that affect the skeleton in patients with chronic renal failure. PATIENTS AND METHODS: 200 patients with end-stage renal disease and on dialysis were investigated regarding the clinical, biochemical and histological findings of bone disease. RESULTS: The spectrum of renal osteodystrophy consisted mainly of high turnover bone lesions (74.5%, including osteitis fibrosa in 57.5%. Patients with mild bone disease were on dialysis for shorter periods of time and were mostly asymptomatic. Patients with aluminum-related bone disease (16.5% had the greatest aluminum exposure, either orally or parenterally, and together with patients with high turnover mixed disease, were the most symptomatic. Although on a non-regular basis, the vast majority of the patients (82.5% had been receiving vitamin D. The incidence of adynamic bone disease was high (n=8 among parathyroidectomized patients (n=12. Significantly higher serum levels of alkaline phosphatase were observed in osteitis fibrosa. CONCLUSIONS: The use of calcitriol and phosphate-binding agents on a non-regular basis seems to be the reason for the apparent reduced response to the treatment of secondary hyperparathyroidism. Alkaline phosphatase has been shown to be a fair marker for bone turnover in patients with osteitis fibrosa. The severity of the clinical manifestations of bone disease correlates with the histological features of bone lesion and to the time spent on dialysis.

  8. SU-F-R-06: Traumatic Brachial Plexus Injury Imaging, Developing a Coherent Clinical Protocol From Literature Review Through Practice

    International Nuclear Information System (INIS)

    Wu, D; France, E; Lambert, J; Hinkle, J

    2016-01-01

    Purpose: Medical Physics teams can now play a critical role to help plan and provide studied approaches for traumatic brachial plexus MR imaging (tbpMRI). This is especially important for coordination with uncommon applications, since it is challenging to select the right modality, parameters, and train technologists on the essential components. For this work, we started with a review of the medical literature, performed crossover/volunteer studies to bring tbpMRI to practice with greater image QC and protocol management. Methods: To the best of our knowledge, we reviewed the known searchable domain for tbpMRI. We found 69 total articles since 2000. Articles were evaluated with our published protocol for literature management (LIMES3). Two physicists and two radiologists condensed the information from all articles into a knowledgebase. Results: The initial literature demonstrated great heterogeneity, which was a sign that this area needed greater consistency. Despite inconsistency and imprecision, we extracted the most relevant targets using our long-term experience with protocol development in MSK. We ran volunteers on six different magnets of various field strengths with multiple receiver coils, and rebuilt a coherent protocol for tbpMRI. Our radiologists rated LIMES3 work as superior. We have received referrals from the ER and have conducted four patient evaluations. Conclusion: Traumatic brachial plexus MRI has great possible benefits for patients. This work supports the complexity of tbpMRI scanning. As this is rarely performed, it requires a more diligent protocol workflow, coordination of caregivers, and education within multiple clinical departments. Choosing the correct imaging exam can be critical, as patients can have significant neuropathy and/or paralysis. The LIMES3 protocol is well liked at our institution, and forms the cornerstone of understanding for our work. Our literature management led to a better clinical protocol creation despite the diffuse

  9. SU-F-R-06: Traumatic Brachial Plexus Injury Imaging, Developing a Coherent Clinical Protocol From Literature Review Through Practice

    Energy Technology Data Exchange (ETDEWEB)

    Wu, D; France, E; Lambert, J; Hinkle, J [The University of Oklahoma Health Sciences Center, Oklahoma City, OK (United States)

    2016-06-15

    Purpose: Medical Physics teams can now play a critical role to help plan and provide studied approaches for traumatic brachial plexus MR imaging (tbpMRI). This is especially important for coordination with uncommon applications, since it is challenging to select the right modality, parameters, and train technologists on the essential components. For this work, we started with a review of the medical literature, performed crossover/volunteer studies to bring tbpMRI to practice with greater image QC and protocol management. Methods: To the best of our knowledge, we reviewed the known searchable domain for tbpMRI. We found 69 total articles since 2000. Articles were evaluated with our published protocol for literature management (LIMES3). Two physicists and two radiologists condensed the information from all articles into a knowledgebase. Results: The initial literature demonstrated great heterogeneity, which was a sign that this area needed greater consistency. Despite inconsistency and imprecision, we extracted the most relevant targets using our long-term experience with protocol development in MSK. We ran volunteers on six different magnets of various field strengths with multiple receiver coils, and rebuilt a coherent protocol for tbpMRI. Our radiologists rated LIMES3 work as superior. We have received referrals from the ER and have conducted four patient evaluations. Conclusion: Traumatic brachial plexus MRI has great possible benefits for patients. This work supports the complexity of tbpMRI scanning. As this is rarely performed, it requires a more diligent protocol workflow, coordination of caregivers, and education within multiple clinical departments. Choosing the correct imaging exam can be critical, as patients can have significant neuropathy and/or paralysis. The LIMES3 protocol is well liked at our institution, and forms the cornerstone of understanding for our work. Our literature management led to a better clinical protocol creation despite the diffuse

  10. Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1e and literature review.

    Science.gov (United States)

    Duffney, Lara J; Valdez, Purnima; Tremblay, Martine W; Cao, Xinyu; Montgomery, Sarah; McConkie-Rosell, Allyn; Jiang, Yong-Hui

    2018-04-27

    Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder (ASD), intellectual disability, congenital heart disease, and other disorders. H1 histone linker protein, the basic component in nucleosome packaging and chromatin organization, has not been implicated in human disease until recently. We report a de novo deleterious mutation of histone cluster 1 H1 family member e (HIST1H1E; c.435dupC; p.Thr146Hisfs*50), encoding H1 histone linker protein H1.4, in a 10-year-old boy with autism and intellectual disability diagnosed through clinical whole exome sequencing. The c.435dupC at the 3' end of the mRNA leads to a frameshift and truncation of the positive charge in the carboxy-terminus of the protein. An expression study demonstrates the mutation leads to reduced protein expression, supporting haploinsufficiency of HIST1H1E protein and loss of function as an underlying mechanism of dysfunction in the brain. Taken together with other recent cases with mutations of HIST1H1E in intellectual disability, the evidence supporting the link to causality in disease is strong. Our finding implicates the deficiency of H1 linker histone protein in autism. The systematic review of candidate genes implicated in ASD revealed that 42 of 215 (19.5%) genes are directly involved in epigenetic regulations and the majority of these genes belong to histone writers, readers, and erasers. While the mechanism of how haploinsufficiency of HIST1H1E causes autism is entirely unknown, our report underscores the importance of further study of the function of this protein and other histone linker proteins in brain development. © 2018 Wiley Periodicals, Inc.

  11. Analysis of the production of scientific literature in clinical research areas in Physiotherapy between 2005 and 2009

    Directory of Open Access Journals (Sweden)

    Torres-Narváez Martha

    2012-04-01

    Full Text Available Objective: characterize the behavior of clinical research in Physiotherapy, through the analysis of theproduction of scientific literature in a period of five years in order to identify areas of concentrationand dispersion, collaborative research and types of clinical studies have conducted. Methods andmaterials: descriptive study on the papers in Medline/PubMed from 2005-2009. Were considereda total 404 publications, clinical trials and epidemiological studies side, analyzed according to thepercentage distribution of articles by clinical area, year of publication, and institutional affiliation ofresearchers. Results: It found a greater number of trials (93% systematic reviews represented thegreatest number of epidemiological studies side. The clinical areas pulmonary and cardiovascularaccount for 65% of scientific publications in the studies analyzed. The year with highest numberof publications was 2008. Half of the clinical research produced in this five-year have affiliationwith academic institutions, and secondly, studies conducted in hospitals. Conclusions: the clinicalresearch publications in Physiotherapy in Medline/PubMed registered show sustained activity ofscientific production in the pulmonary and cardiovascular areas, consistent with the major healthconcerns in the world. The findings suggest that the ability of physiotherapists to develop qualityresearch, use and transfer of results into clinical practice should achieve greater development.

  12. The clinical spectrum of early Lyme borreliosis in patients with culture-confirmed erythema migrans.

    Science.gov (United States)

    Nadelman, R B; Nowakowski, J; Forseter, G; Goldberg, N S; Bittker, S; Cooper, D; Aguero-Rosenfeld, M; Wormser, G P

    1996-05-01

    The diagnosis of erythema migrans (EM), the characteristic rash of early Lyme borreliosis, is based primarily on its clinical appearance since it often occurs prior to the development of a specific antibody response. Other skin disorders, however, may be confused with EM. Between June 1991 and September 1993, a prospective study was conducted at the Lyme Disease Diagnostic Center of the Westchester County Medical Center to isolate Borrelia burgdorferi systematically from patients with Em, and to characterize the clinical manifestations of patients with culture-documented infection. Skin biopsies and/or needle aspirates of the advancing margin of primary lesions, and blood specimens from adult patients were cultured for B burgdorferi in modified Barbour-Stoenner-Kelly medium at 33 degrees C. B burgdorferi was recovered from 79 patients (49 [62%] males) ranging in age from 16 to 76 years old (mean, 43 +/- 14 years old). Maximum EM diameter (mean, 16 +/- 10 cm; range, 6-73 cm) was a function of EM duration (mean 6.7 +/- 6.4 days; range, 1-39 days) (correlation coefficient = 0.7; P lesion a mean of 10 days (range, 1-27 days) before onset. Multiple EM lesions (range, 2-70) were present in 14 (18%) patients. Systemic symptoms were present at the time of culture in 54 patients (68%) including fatigue (54%), arthralgia (44%), myalgia (44%), headache, (42%), fever and/or chills (39%), stiff neck (35%), and anorexia (26%). Thirty-three patients (42%) had at least one objective finding on physical examination in addition to EM, including 18 (23%) with localized lymphadenopathy, 13 (16%) with fever (t > or = 37.8 degrees C), seven (9%) with tender neck flexion, six (8%) with joint tenderness, and 1 each with joint swelling, nuchal rigidity, and facial nerve palsy. No patient had new electrocardiogram evidence of atrioventricular block. Liver function assays were abnormally elevated in 37% of patients. Thirty-four percent of patients were seropositive by enzyme

  13. Student perceptions of a quality clinical experience: findings from the literature and their application to radiation therapy

    International Nuclear Information System (INIS)

    Fenton, Paul

    2005-01-01

    This paper seeks to provide a review of research findings into the clinical experience from the perception of students, with the aim of improving the clinical placements of radiation therapy students. Drawing on evidence from other allied health professions, the attributes of the ideal supervisor perceived by students is presented. The effect of clinical environment, departmental culture and communication with universities on student perception is also discussed. The lack of literature on radiation therapy education in the clinical setting has been highlighted and may be remedied in the future with the appointment of research radiation therapists. There is an ongoing need for the universities to assist radiation therapists in maintaining their skills in the supervision of students, perhaps through the provision of workshops and seminars. The list of attributes of the ideal supervisor extracted from the literature is extensive. It is an unrealistic expectation for a person to possess all of the characteristics, however the challenge is for supervisors to develop and exhibit as many as possible. Copyright (2005) Australian Institute of Radiography

  14. Homozygous familiar hypercholesterolemia in China: Case series from the national lipid clinics and literature review

    Directory of Open Access Journals (Sweden)

    Cheng-Gang Zhu

    2017-03-01

    Conclusion: In a conclusion, we found a relatively common recruitment of this type of patients in our hospital, which might have an important clinical implication for the identification and management of the patients with FH in China.

  15. Literature Reference for Noroviruses (Journal of Clinical Microbiology. 2004. 42(10): 4679–4685)

    Science.gov (United States)

    Procedures are described for analysis of clinical samples and may be adapted for of solid, particulate, aerosol, and water samples. This method is an assay for detection and quantitation of norovirus using real-time reverse transcription-PCR.

  16. Clinical outcomes of immediate/early loading of dental implants. A literature review of recent controlled prospective clinical studies.

    Science.gov (United States)

    Sennerby, L; Gottlow, J

    2008-06-01

    Two previous reviews have evaluated the clinical outcomes of immediate/early loading of dental implants based on studies published until 2005.(1,2) The aim of the present paper was to review controlled clinical studies on the subject published since 2005 including at least 10 patients in each group followed for at least one year in function. Six comparative studies were found and none of these showed any differences in survival rates or marginal bone loss after one to five years. Most authors used specified inclusion criteria to avoid known risk factors such as soft bone, short implants and bruxism. Data from one randomized study in the edentulous maxilla showed no differences between early and delayed loading in consecutive clinical routine cases including short implants and soft bone. Three additional studies comparing different surfaces or implant designs under immediate loading were reviewed. No differences between implants with a moderately rough or smooth surface topography were observed. The data add to the previous bulk of evidence that various designs of implants can be loaded shortly after their placement in both the mandible and the maxilla. However, one study reported on marginal bone loss around a novel one-piece implant design leading to implant failure which was not seen for control two-piece implants.(3).

  17. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

    Science.gov (United States)

    Masnada, Silvia; Hedrich, Ulrike B S; Gardella, Elena; Schubert, Julian; Kaiwar, Charu; Klee, Eric W; Lanpher, Brendan C; Gavrilova, Ralitza H; Synofzik, Matthis; Bast, Thomas; Gorman, Kathleen; King, Mary D; Allen, Nicholas M; Conroy, Judith; Ben Zeev, Bruria; Tzadok, Michal; Korff, Christian; Dubois, Fanny; Ramsey, Keri; Narayanan, Vinodh; Serratosa, Jose M; Giraldez, Beatriz G; Helbig, Ingo; Marsh, Eric; O'Brien, Margaret; Bergqvist, Christina A; Binelli, Adrian; Porter, Brenda; Zaeyen, Eduardo; Horovitz, Dafne D; Wolff, Markus; Marjanovic, Dragan; Caglayan, Hande S; Arslan, Mutluay; Pena, Sergio D J; Sisodiya, Sanjay M; Balestrini, Simona; Syrbe, Steffen; Veggiotti, Pierangelo; Lemke, Johannes R; Møller, Rikke S; Lerche, Holger; Rubboli, Guido

    2017-09-01

    Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations. We identified five novel and confirmed six known mutations, three of which recurred in three, five and seven patients, respectively. Ten mutations were missense and one was a truncation mutation; de novo occurrence could be shown in 20 patients. Functional studies using a Xenopus oocyte two-microelectrode voltage clamp system revealed mutations with only loss-of-function effects (mostly dominant-negative current amplitude reduction) in eight patients or only gain-of-function effects (hyperpolarizing shift of voltage-dependent activation, increased amplitude) in nine patients. In six patients, the gain-of-function was diminished by an additional loss-of-function (gain-and loss-of-function) due to a hyperpolarizing shift of voltage-dependent activation combined with either decreased amplitudes or an additional hyperpolarizing shift of the inactivation curve. These electrophysiological findings correlated with distinct phenotypic features. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes

  18. Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.

    Science.gov (United States)

    Saleeb, Rola M; Srigley, John R; Sweet, Joan; Doucet, Cedric; Royal, Virginie; Chen, Ying-Bei; Brimo, Fadi; Evans, Andrew

    2017-11-01

    MiT family translocation tumors are a group of neoplasms characterized by translocations involving MiT family transcription factors. The translocation renal cell carcinomas, TFE3 (Xp11.2) and TFEB (t6;11) are known members of this family. Melanotic Xp11 translocation renal cancer is a more recently described entity. To date only 14 cases have been described. It is characterized by a distinct set of features including a nested epithelioid morphology, melanin pigmentation, labeling for markers of melanocytic differentiation, lack of labeling for markers of renal tubular differentiation, predominance in a younger age population and association with aggressive clinical behavior. There are noted similarities between that entity and TFE3 associated PEComas. There are no cases reported of equivalent melanotic TFEB translocation renal cancer. We report 2 rare cases of melanotic translocation renal neoplasms. The first is a melanotic TFE3 translocation renal cancer with an indolent clinical course, occurring in a patient more than 3-decades older than the usual average age in which such tumors have been described. The other case is, to our knowledge, the first reported melanotic TFEB translocation cancer of the kidney. Both cases exhibit the same H&E morphology as previously reported in melanotic translocation renal cancers and label accordingly with HMB45 and Melan-A. While the TFE3 melanotic tumor lacked any evidence of renal tubular differentiation, the TFEB melanotic cancer exhibited some staining for renal tubular markers. Based on the unique features noted above, these two cases expand the clinical and molecular spectrum of the melanotic translocation renal cancers. Copyright © 2017 Elsevier GmbH. All rights reserved.

  19. Cell Line Controls for the Genotyping of a Spectrum of Human Single Nucleotide Polymorphisms in the Clinical Laboratory.

    Science.gov (United States)

    Kimbacher, Christine; Paar, Christian; Freystetter, Andrea; Berg, Joerg

    2018-05-01

    Genotyping for clinically important single nucleotide polymorphisms (SNPs) is performed by many clinical routine laboratories. To support testing, quality controls and reference materials are needed. Those may be derived from residual patient samples, left over samples of external quality assurance schemes, plasmid DNA or DNA from cell lines. DNAs from cell lines are commutable and available in large amounts. DNA from 38 cell lines were examined for suitability as controls in 11 SNP assays that are frequently used in a clinical routine laboratory: FV (1691G>A), FII (20210G>A), PAI-1 4G/5G polymorphism, MTHFR (677C>T, 1298A>C), HFE (H63D, S65C, C282Y), APOE (E2, E3, E4), LPH (-13910C>T), UGT1A1 (*28, *36, *37), TPMT (*2, *3A, *3B, *3C), VKORC1 (-1639G>A, 1173C>T), CYP2C9 (*2, *3, *5). Genotyping was performed by real-time PCR with melting curve analysis and confirmed by bi-directional sequencing. We find an almost complete spectrum of genotypic constellations within these 38 cell lines. About 12 cell lines appear sufficient as genotypic controls for the 11 SNP assays by covering almost all of the genotypes. However, hetero- and homozygous genotypes for FII and the alleles TPMT*2, UGT1A1*37 and CYP2C9*5 were not detected in any of the cell lines. DNA from most of the examined cell lines appear suitable as quality controls for these SNP assays in the laboratory routine, as to the implementation of those assays or to prepare samples for quality assurance schemes. Our study may serve as a pilot to further characterize these cell lines to arrive at the status of reference materials.

  20. Extended Clinical Spectrum of Anti-N-Methyl-d-Aspartate Receptor Encephalitis in Children: A Case Series.

    Science.gov (United States)

    Goenka, Ajay; Jain, Vivek; Nariai, Hiroki; Spiro, Alfred; Steinschneider, Mitchell

    2017-07-01

    There is a wide spectrum of clinical manifestations in children with anti-N-methyl-d-aspartate (NMDA) receptor antibody encephalitis from two different health care settings. We describe our experience with 13 patients (median age, 7 years; range, 5 months to 19 years) presenting to tertiary referral centers in India and the United States. Initial manifestations were neurological (seizures or movement disorders) in eight patients, and psychiatric (e.g., emotional lability and hallucination) in five patients. Symptoms during the clinical course included seizures in ten patients, movement disorders (dyskinesia and choreiform movements) in 11 patients, and behavioral changes (aggressiveness and insomnia) in ten patients. Concomitant infections (herpes simplex virus 1, tuberculous meningitis, and influenza A) were present in three patients. Analysis of the cerebrospinal fluid in all except two cases preceded by infection (herpes simplex virus encephalitis and tuberculous meningitis) was unremarkable. Treatment included intravenous immunoglobulin/methylprednisolone (11 patients), rituximab (eight patients), plasmapheresis (two patients), and cyclophosphamide (two patients). Six patients recovered completely. Two patients had mild residual neurological deficits, whereas four had severe residual neurological deficits. Two patients had profound autonomic instability, which was the cause of death for one of them. Two patients relapsed at two and six months after the initial recovery. We describe the differences and similarities of clinical presentation, test results, and response to treatment of children with anti-N-methyl-d-aspartate receptor encephalitis from India and the United States. Included is a description of one of the youngest patients with anti-N-methyl-d-aspartate receptor encephalitis (five months) and the first patient to be reported in association with tuberculous meningitis. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Cytomorphologic spectrum of Hashimoto′s thyroiditis and its clinical correlation: A retrospective study of 52 patients

    Directory of Open Access Journals (Sweden)

    Shirish S Chandanwale

    2014-01-01

    Full Text Available Background: Hashimoto′s thyroiditis (HT is an autoimmune disease and it is more prevalent in Asians. The incidence of HT seems to be increasing in the recent times. It is one of the most common cause of hypothyroidism. The purpose of this study is to review the cytomorphologic spectrum of HT and correlate it with clinical findings including thyroid function and antibody profile. Materials and Methods: We retrospectively analyzed the fine-needle aspiration (FNA features of 52 HT patients. Based on cytomorphologic features patients were categorized into three groups. Clinical findings including thyroid function and thyroid peroxidase (TPO antibody profile were correlated with cytomorphologic features in all three groups. Results: Majority of the patients were females and in 2 nd , 3 rd and 4 th decades. Diffuse goiter and thyroid hypofunction were the common findings. Significant number of patients had thyroid hyperfunction. Increased lymphocytes on the background and lymphocytic infiltration of thyroid follicular cell clusters in cytology smears were diagnostic of HT. The 32 patients showed elevated titers of TPO antibodies. In the early stages and mild form of the disease, results of thyroid function and anti TPO antibodies are quite variable. Conclusions: HT is a disease of young and middle age and mostly occur in females. Clinical findings alone may not be adequate for definitive diagnosis. FNA is the gold standard for diagnosis. In the presence of abundant colloid, follicular hyperplasia or co-existing neoplasm, careful interpretation of cytology smears should be done. Aspiration from more than one site minimizes the diagnostic pitfalls.

  2. Review of guidelines and literature for handling missing data in longitudinal clinical trials with a case study.

    Science.gov (United States)

    Liu, M; Wei, L; Zhang, J

    2006-01-01

    Missing data in clinical trials are inevitable. We highlight the ICH guidelines and CPMP points to consider on missing data. Specifically, we outline how we should consider missing data issues when designing, planning and conducting studies to minimize missing data impact. We also go beyond the coverage of the above two documents, provide a more detailed review of the basic concepts of missing data and frequently used terminologies, and examples of the typical missing data mechanism, and discuss technical details and literature for several frequently used statistical methods and associated software. Finally, we provide a case study where the principles outlined in this paper are applied to one clinical program at protocol design, data analysis plan and other stages of a clinical trial.

  3. Neovascular age-related macular degeneration without drusen in the fellow eye: clinical spectrum and therapeutic outcome

    Directory of Open Access Journals (Sweden)

    Chung WH

    2016-12-01

    initial visit. Conclusion: There is a clinical spectrum of nAMD that is not associated with drusen in the fellow eye. Patients with nAMD without drusen in the fellow eye respond to anti-VEGF treatment and, in cases of PCV, to supplemental PDT. The pathophysiology of this spectrum of nAMD may be different from drusen-associated age-related macular degeneration. Keywords: anti-vascular endothelial growth factor, unilateral age-related macular degeneration, non-neovascular age-related macular degeneration, polypoidal choroidal vasculopathy, precursor lesion, best-corrected visual acuity

  4. Testing clinical competencies in undergraduate nursing education using Objective Structured Clinical Examination (OSCE) – a literature review of international practice

    Science.gov (United States)

    Beyer, Angelika; Dreier, Adina; Kirschner, Stefanie; Hoffmann, Wolfgang

    2016-07-01

    Background: In response to demographic trends in Germany nursing competencies are currently reevaluated. Since these have to be taught and trained in nursing education programs, efficient verification of the success is necessary. OSCEs are internationally well-recognized as a comprehensive tool for that. Aim: In this analysis we identified competencies worldwide, which are tested by OSCEs in undergraduate nursing education programs. Method: An international literature research was conducted. The selection criterion for an article was the specification of at least one verifiable competency. Afterwards the competencies were categorized into knowledge, skills and attitudes according to the German “Fachqualifikationsrahmen Pflege für die hochschulische Bildung”. Results: A total of 36 publications fulfilled all inclusion criteria. Relevant studies were predominantly initiated in the UK, Canada and Australia. Within all categories a total of n = 166 different competencies are mentioned. OSCEs are developed and performed in a broad range of methods. Most frequently skills were verified. The most common topic was sure handling of medication. Other important themes were communicative competencies in relation to patients and the ability of self-evaluation. Discussion/Conclusions: A variation in examination methods is appropriate as different competencies are acquired in preparation of the test. Evaluation took place on an individual or institutional level. Further research is needed.

  5. Metaphyseal chondrodysplasia, Schmid type - clinical and radiographic deliniation with a review of the literature

    International Nuclear Information System (INIS)

    Lachmann, R.S.; Rimoin, D.L.; Spranger, J.; Mainz Univ.

    1988-01-01

    Analysis of 20 cases of metaphyseal chondrodysplasia, Schmid type as well as a review of the world literature reveals a specific autosomal dominant disorder that was often over diagnosed in the past, sometimes resulting in incorrect genetic counselling. Significant radiologic features include an enlarged capital femoral epiphysis in early childhood, coxa vara, greater involvement of the distal femoral metaphysis than the proximal, anterior rib changes and a normal spine. Chondroosseous morphology is not specific. Presentation in nonfamilial cases is no earlier than the second year of life. (orig.)

  6. The Mallory body: morphological, clinical and experimental studies (Part 1 of a literature survey)

    DEFF Research Database (Denmark)

    Jensen, K; Gluud, C

    1994-01-01

    electron microscopy (with fibrillar structure parallel, random or absent), they remain stereotypical manifestations of hepatocyte injury. A summary of the conditions associated with Mallory bodies in the literature and their validity and potential etiological relationships is presented and discussed...... suggest a hit-and-run effect of alcohol, whereas other chronic liver diseases show evidence of gradual increase in prevalence of Mallory bodies with severity of hepatic pathology. Mallory bodies in cirrhosis do not imply alcoholic pathogenesis. Obesity, however, is associated with alcoholism and diabetes...

  7. Clinical research evidence of cupping therapy in China: a systematic literature review.

    Science.gov (United States)

    Cao, Huijuan; Han, Mei; Li, Xun; Dong, Shangjuan; Shang, Yongmei; Wang, Qian; Xu, Shu; Liu, Jianping

    2010-11-16

    Though cupping therapy has been used in China for thousands of years, there has been no systematic summary of clinical research on it.This review is to evaluate the therapeutic effect of cupping therapy using evidence-based approach based on all available clinical studies. We included all clinical studies on cupping therapy for all kinds of diseases. We searched six electronic databases, all searches ended in December 2008. We extracted data on the type of cupping and type of diseases treated. 550 clinical studies were identified published between 1959 and 2008, including 73 randomized controlled trials (RCTs), 22 clinical controlled trials, 373 case series, and 82 case reports. Number of RCTs obviously increased during past decades, but the quality of the RCTs was generally poor according to the risk of bias of the Cochrane standard for important outcome within each trials. The diseases in which cupping was commonly employed included pain conditions, herpes zoster, cough or asthma, etc. Wet cupping was used in majority studies, followed by retained cupping, moving cupping, medicinal cupping, etc. 38 studies used combination of two types of cupping therapies. No serious adverse effects were reported in the studies. According to the above results, quality and quantity of RCTs on cupping therapy appears to be improved during the past 50 years in China, and majority of studies show potential benefit on pain conditions, herpes zoster and other diseases. However, further rigorous designed trials in relevant conditions are warranted to support their use in practice.

  8. Multiple Sclerosis and autoimmune diseases: clinical cases and review of the literature

    Directory of Open Access Journals (Sweden)

    A. Protti

    2011-09-01

    Full Text Available Multiple sclerosis (MS, the most frequent demyelinating disease in adults, is thought to be an autoimmune disease. Symptoms and signs observed in MS reflect lesions present mainly in the white matter of the central nervous system (CNS. The diagnosis remains difficult, at least concerning presenting symptoms, because of their low specificity. Diagnosis criteria are usually based on dissemination of signs in time and space, evoked potentials, findings of magnetic resonance imaging, results of cerebrospinal fluid examination, and the exclusion of other diagnosis possibly explaining the clinical signs. However, no clinical and paraclinical investigation can distinguish with certainity MS from other conditions such as autoimmune or inflammatory diseases predominantly affecting the central nervous system. These other disorders include systemic lupus erythematosus, antiphospholipid syndrome, Behcet disease, Sjogren syndrome, sarcoidosis and vasculitides. We present four clinical cases showing the difficulty in reaching a proper diagnosis...

  9. [Clinical management of acute colonic pseudo-obstruction in patients: a systematic review of the literature].

    Science.gov (United States)

    Delgado-Aros, S; Camilleri, M

    2003-12-01

    Intestinal pseudoobstruction is a clinical syndrome characterized by impairment of intestinal propulsion, which may resemble intestinal obstruction, in the absence of a mechanical cause. It usually affects the colon but the small intestine may also be involved, and may present in acute, subacute or chronic forms. We have performed a systematic review of the acute form of pseudoobstruction, also referred to as Ogilvie's syndrome. We discuss proposed pathophysiological mechanisms, manifestations and management of this clinical condition in post-surgery and critically ill patients. The hallmark of the syndrome is massive intestinal distension, which is detected on clinical inspection and plain abdominal radiography. The underlying pathophysiological mechanisms are not fully understood. Therefore, treatment has focussed on preventing intestinal perforation, which is associated with a 21% mortality rate.

  10. Marijuana and Breastfeeding: Applicability of the Current Literature to Clinical Practice.

    Science.gov (United States)

    Mourh, Jasminder; Rowe, Hilary

    2017-12-01

    With recent legalization of marijuana in numerous U.S. states, the risk of marijuana exposure via breast milk is a rising concern. This review analyzes the available human and animal literature regarding maternal use of marijuana during lactation. The findings can be categorized into four areas of analysis: effects of marijuana on the mother, transfer into milk, transfer to the offspring, and effects on the offspring. Human and animal data have reported decreased prolactin levels as well as potential maternal psychological changes. Animal and human studies have reported transfer into milk; levels were detected in animal offspring, and metabolites were excreted by both human and animal offspring. Further, animal data have predominately displayed motor, neurobehavioral, and developmental effects, whereas human data suggested possible psychomotor outcomes; however, some studies reported no effect. Despite these results, many human studies were marred by limitations, including small sample sizes and confounding variables. Also, the applicability of animal data to the human population is questionable and the true risk of adverse effects is not entirely known. There are large gaps in the literature that need to be addressed; in particular, studies need to focus on evaluating the short- and long-term consequences of maternal marijuana use for the infant and the potential for different risks based on the frequency of maternal use. Until further evidence becomes available, practitioners need to weigh the benefits of breastfeeding for mother and child, with the potential influence of marijuana on infant development when determining the infant's most suitable form of nutrition.

  11. The Role of Co-Occurring Disruptive Behavior in the Clinical Presentation of Children and Adolescents with Anxiety in the Context of Autism Spectrum Disorders

    Science.gov (United States)

    Storch, Eric A.; Arnold, Elysse B.; Jones, Anna M.; Ale, Chelsea M.; Wood, Jeffrey J.; Ehrenreich-May, Jill; Lewin, Adam B.; Mutch, P. Jane; Murphy, Tanya K.

    2012-01-01

    This study explored the impact of disruptive behavior disorder (DBD) comorbidity on theoretically relevant correlates among 87 children and adolescents with autism spectrum disorders (ASD) and clinically significant anxiety. Relative to youth with ASD and anxiety alone, participants with ASD, anxiety, and DBD: (a) presented with significantly more…

  12. Clinical and molecular characteristics of extended-spectrum-β- lactamase-producing Escherichia coli causing bacteremia in the Rotterdam Area, Netherlands

    NARCIS (Netherlands)

    A.K. van der Bij (Akke); G. Peirano (G.); W.H.F. Goessens (Wil); E.R. van der Vorm (Eric); M. van Westreenen (Mireille); J.D.D. Pitout (J. D D)

    2011-01-01

    textabstractWe investigated the clinical and molecular characteristics of bacteremia caused by extended-spectrum-β-lactamase (ESBL)-producing Escherichia coli over a 2-year period (2008 to 2009) in the Rotterdam region (including 1 teaching hospital and 2 community hospitals) of Netherlands. The

  13. Gender Ratio in a Clinical Population Sample, Age of Diagnosis and Duration of Assessment in Children and Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Rutherford, Marion; McKenzie, Karen; Johnson, Tess; Catchpole, Ciara; O'Hare, Anne; McClure, Iain; Forsyth, Kirsty; McCartney, Deborah; Murray, Aja

    2016-01-01

    This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish…

  14. Temporomandibular joint disorder in a patient with multiple sclerosis--review of literature with a clinical report.

    Science.gov (United States)

    Badel, Tomislav; Carek, Andreja; Podoreski, Dijana; Pavicin, Ivana Savić; Lovko, Sandra Kocijan

    2010-09-01

    Temporomandibular disorders are a form of musculoskeletal disorders, which reduce the function of stomatognathic system and they are related to some other diseases causing painful conditions and disorders of oral function. The aim of this paper is to describe a one year follow up clinical case of a female patient with comorbid multiple sclerosis and a relatively rare form of articular disc disorder. Primary clinical diagnostics encompassed manual methods of TMJ examination. Definite diagnosis included radiologic examination. Clinical hyperextensive condyle position was palpated bilaterally and subsequently confirmed by a functional panoramic radiograph of TMJ. The anterior displacement of disc with reduction was diagnosed by magnetic resonance and in the right joint there was a disc displacement upon excursive movement. From relevant literature, the relationship of a number of diseases that can be related to functional disorder of the orofacial system, such as multiple sclerosis, has been described from many aspects. Also, apart from the standard classification of one form of anterior displacement of the disc, made primarily by magnetic resonance, cases of disc displacement upon excursive mandibular movement can rarely be found in literature.

  15. Heart rate variability measurement and clinical depression in acute coronary syndrome patients: narrative review of recent literature

    Directory of Open Access Journals (Sweden)

    Harris PR

    2014-07-01

    Full Text Available Patricia RE Harris,1 Claire E Sommargren,2 Phyllis K Stein,3 Gordon L Fung,4,5 Barbara J Drew6,7 1ECG Monitoring Research Lab, 2Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA; 3Heart Rate Variability Laboratory, School of Medicine, Washington University, St Louis, MO, USA; 4Asian Heart & Vascular Center at Mount Zion, Division of Cardiology, University of California, 5Cardiology Consultation Service, Cardiac Noninvasive Laboratory, and The Enhanced External Counterpulsation Unit, Department of Medicine, University of California, San Francisco Medical Center, 6Division of Cardiology, 7Department of Physiological Nursing, School of Nursing, University of California, San Francisco, CA, USA Aim: We aimed to explore links between heart rate variability (HRV and clinical depression in patients with acute coronary syndrome (ACS, through a review of recent clinical research literature. Background: Patients with ACS are at risk for both cardiac autonomic dysfunction and clinical depression. Both conditions can negatively impact the ability to recover from an acute physiological insult, such as unstable angina or myocardial infarction, increasing the risk for adverse cardiovascular outcomes. HRV is recognized as a reflection of autonomic function. Methods: A narrative review was undertaken to evaluate state-of-the-art clinical research, using the PubMed database, January 2013. The search terms “heart rate variability” and “depression” were used in conjunction with “acute coronary syndrome”, “unstable angina”, or “myocardial infarction” to find clinical studies published within the past 10 years related to HRV and clinical depression, in patients with an ACS episode. Studies were included if HRV measurement and depression screening were undertaken during an ACS hospitalization or within 2 months of hospital discharge. Results: Nine clinical studies met the inclusion criteria. The

  16. Is there a way for clinical teachers to assist struggling learners? A synthetic review of the literature

    Directory of Open Access Journals (Sweden)

    Boileau E

    2017-01-01

    Full Text Available Elisabeth Boileau,1 Christina St-Onge,2 Marie-Claude Audétat3 1Department of Family and Emergency Medicine, 2Department of Medicine, Université de Sherbrooke, Sherbrooke, QC, Canada; 3Unité des Internistes Généralistes et Pédiatres, Université de Genève, Geneva, Switzerland Abstract: Struggling medical trainees pose a challenge to clinical teachers, since these learners warrant closer supervision that is time-consuming and competes with time spent on patient care. Clinical teachers’ perception that they are ill equipped to address learners’ difficulties efficiently may lead to delays or even lack of remediation for these learners. Because of the paucity of evidence to guide best practices in remediation, the best approach to guide clinical teachers in the field remains to be established. We aimed to present a synthetic review of the empirical evidence and theory that may guide clinical teachers in their daily task of supervising struggling learners, reviewing current knowledge on the challenges and solutions that have been identified and explored. A computerized literature search was performed using Medline, Embase, Education Resources Information Center, and Education Source, after which final articles were selected based on relevance. The literature reviewed provided best evidence for clinical teachers to address learners’ difficulties, which is presented in the order of the four steps inherent to the clinical approach: 1 detecting a problem based on a subjective impression, 2 gathering and documenting objective data, 3 assessing data to make a diagnosis, and 4 planning remediation. A synthesized classification of pedagogical diagnoses is also presented. This review provides an outline of practical recommendations regarding the supervision and management of struggling learners up to the remediation phase. Our findings suggest that future research and faculty development endeavors should aim to operationalize remediation

  17. Literature Reference for Entamoeba histolytica (Journal of Clinical Microbiology. 2005. 43(11): 5491–5497)

    Science.gov (United States)

    Procedures are described for analysis of clinical samples and may be adapted for assessment of solid, particulate, liquid and water samples. The method is a real-time PCR assay that targets the 18S rRNA gene sequence of Entamoeba histolytica.

  18. The clinical syndrome of primary tic disorder associated with dystonia: a large clinical series and a review of the literature.

    Science.gov (United States)

    Damásio, Joana; Edwards, Mark J; Alonso-Canovas, Araceli; Schwingenschuh, Petra; Kägi, Georg; Bhatia, Kailash P

    2011-03-01

    The co-occurrence of tics and dystonia as an idiopathic condition has only rarely been reported. We report a series of patients with tics and persistent dystonia, with the aim of determining the prevalence and clinical characteristics of this syndrome. Analysis of clinical database of patients with tic disorders. From our database of 224 patients with tics, 20 had co-occurrence of tics and dystonia as a primary disorder. Six patients had Tourette's syndrome, and 2 had idiopathic chronic motor/phonic tics. Twelve of the 20 had adult onset of tics (9 with motor/phonic tics and 3 with motor tics). Dystonia was focal in 12 patients (cervical most common) and segmental in 8. A sensory geste was present in 8. Mean age of tic onset and dystonia was 28.3 ± 19.7 and 40.5 ± 15.3 years, respectively. Tics preceded dystonia in 12, dystonia preceded tics in 4, and 1 patient had simultaneous onset of tics and dystonia. In 3 patients, symptoms' sequence could not be determined. Only 8 patients required treatment for their tics. Botulinum toxin was the mainstay of dystonia treatment (16 patients), whereas 6 received trihexyphenidyl. Six patients each had depression and obsessive compulsive symptoms, and 5 had attention-deficit and hyperactivity disorder. We have further characterized the syndrome of a primary condition of tics associated with persistent focal/segmental dystonia. Apart from the presence of dystonia, our data suggest that these patients are differentiated from pure tic disorders by a later age of onset, lesser severity of tics, and lower frequency of associated features. Copyright © 2010 Movement Disorder Society.

  19. Clinical pharmacy activities in chronic kidney disease and end-stage renal disease patients: a systematic literature review

    Directory of Open Access Journals (Sweden)

    Stemer Gunar

    2011-07-01

    Full Text Available Abstract Background Chronic kidney disease (CKD and end-stage renal disease (ESRD represent worldwide health problems with an epidemic extent. Therefore, attention must be given to the optimisation of patient care, as gaps in the care of CKD and ESRD patients are well documented. As part of a multidisciplinary patient care strategy, clinical pharmacy services have led to improvements in patient care. The purpose of this study was to summarise the available evidence regarding the role and impact of clinical pharmacy services for these patient populations. Methods A literature search was conducted using the Medline, Embase and International Pharmaceutical Abstracts databases to identify relevant studies on the impact of clinical pharmacists on CKD and ESRD patients, regarding disease-oriented and patient-oriented outcomes, and clinical pharmacist interventions on drug-related problems. Results Among a total of 21 studies, only four (19% were controlled trials. The majority of studies were descriptive (67% and before-after studies (14%. Interventions comprised general clinical pharmacy services with a focus on detecting, resolving and preventing drug-related problems, clinical pharmacy services with a focus on disease management, or clinical pharmacy services with a focus on patient education in order to increase medication knowledge. Anaemia was the most common comorbidity managed by clinical pharmacists, and their involvement led to significant improvement in investigated disease-oriented outcomes, for example, haemoglobin levels. Only four of the studies (including three controlled trials presented data on patient-oriented outcomes, for example, quality of life and length of hospitalisation. Studies investigating the number and type of clinical pharmacist interventions and physician acceptance rates reported a mean acceptance rate of 79%. The most common reported drug-related problems were incorrect dosing, the need for additional

  20. Dutch guideline for clinical foetal-neonatal and paediatric post-mortem radiology, including a review of literature.

    Science.gov (United States)

    Sonnemans, L J P; Vester, M E M; Kolsteren, E E M; Erwich, J J H M; Nikkels, P G J; Kint, P A M; van Rijn, R R; Klein, W M

    2018-06-01

    Clinical post-mortem radiology is a relatively new field of expertise and not common practice in most hospitals yet. With the declining numbers of autopsies and increasing demand for quality control of clinical care, post-mortem radiology can offer a solution, or at least be complementary. A working group consisting of radiologists, pathologists and other clinical medical specialists reviewed and evaluated the literature on the diagnostic value of post-mortem conventional radiography (CR), ultrasonography, computed tomography (PMCT), magnetic resonance imaging (PMMRI), and minimally invasive autopsy (MIA). Evidence tables were built and subsequently a Dutch national evidence-based guideline for post-mortem radiology was developed. We present this evaluation of the radiological modalities in a clinical post-mortem setting, including MIA, as well as the recently published Dutch guidelines for post-mortem radiology in foetuses, neonates, and children. In general, for post-mortem radiology modalities, PMMRI is the modality of choice in foetuses, neonates, and infants, whereas PMCT is advised in older children. There is a limited role for post-mortem CR and ultrasonography. In most cases, conventional autopsy will remain the diagnostic method of choice. Based on a literature review and clinical expertise, an evidence-based guideline was developed for post-mortem radiology of foetal, neonatal, and paediatric patients. What is Known: • Post-mortem investigations serve as a quality check for the provided health care and are important for reliable epidemiological registration. • Post-mortem radiology, sometimes combined with minimally invasive techniques, is considered as an adjunct or alternative to autopsy. What is New: • We present the Dutch guidelines for post-mortem radiology in foetuses, neonates and children. • Autopsy remains the reference standard, however minimal invasive autopsy with a skeletal survey, post-mortem computed tomography, or post

  1. Clinical measures of balance in people with type two diabetes: A systematic literature review.

    Science.gov (United States)

    Dixon, C J; Knight, T; Binns, E; Ihaka, B; O'Brien, D

    2017-10-01

    Approximately 422 million people have diabetes mellitus worldwide, with the majority diagnosed with type 2 diabetes mellitus (T2DM). The complications of diabetes mellitus include diabetic peripheral neuropathy (DPN) and retinopathy, both of which can lead to balance impairments. Balance assessment is therefore an integral component of the clinical assessment of a person with T2DM. Although there are a variety of balance measures available, it is uncertain which measures are the most appropriate for this population. Therefore, the aim of this study was to conduct a systematic review on clinical balance measures used with people with T2DM and DPN. Databases searched included: CINAHL plus, MEDLINE, SPORTDiscus, Dentistry and Oral Sciences source, and SCOPUS. Key terms, inclusion and exclusion criteria were used to identify appropriate studies. Identified studies were critiqued using the Downs and Black appraisal tool. Eight studies were included, these studies incorporated a total of ten different clinical balance measures. The balance measures identified included the Dynamic Balance Test, balance walk, tandem and unipedal stance, Functional Reach Test, Clinical Test of Sensory Interaction and Balance, Berg Balance Scale, Tinetti Performance-Oriented Mobility Assessment, Activity-Specific Balance Confidence Scale, Timed Up and Go test, and the Dynamic Gait Index. Numerous clinical balance measures were used for people with T2DM. However, the identified balance measures did not assess all of the systems of balance, and most had not been validated in a T2DM population. Therefore, future research is needed to identify the validity of a balance measure that assesses these systems in people with T2DM. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  2. Clinical research evidence of cupping therapy in China: a systematic literature review

    Directory of Open Access Journals (Sweden)

    Wang Qian

    2010-11-01

    Full Text Available Abstract Background Though cupping therapy has been used in China for thousands of years, there has been no systematic summary of clinical research on it. This review is to evaluate the therapeutic effect of cupping therapy using evidence-based approach based on all available clinical studies. Methods We included all clinical studies on cupping therapy for all kinds of diseases. We searched six electronic databases, all searches ended in December 2008. We extracted data on the type of cupping and type of diseases treated. Results 550 clinical studies were identified published between 1959 and 2008, including 73 randomized controlled trials (RCTs, 22 clinical controlled trials, 373 case series, and 82 case reports. Number of RCTs obviously increased during past decades, but the quality of the RCTs was generally poor according to the risk of bias of the Cochrane standard for important outcome within each trials. The diseases in which cupping was commonly employed included pain conditions, herpes zoster, cough or asthma, etc. Wet cupping was used in majority studies, followed by retained cupping, moving cupping, medicinal cupping, etc. 38 studies used combination of two types of cupping therapies. No serious adverse effects were reported in the studies. Conclusions According to the above results, quality and quantity of RCTs on cupping therapy appears to be improved during the past 50 years in China, and majority of studies show potential benefit on pain conditions, herpes zoster and other diseases. However, further rigorous designed trials in relevant conditions are warranted to support their use in practice.

  3. Experiences of registered nurses who supervise international nursing students in the clinical and classroom setting: an integrative literature review.

    Science.gov (United States)

    Newton, Louise; Pront, Leeanne; Giles, Tracey M

    2016-06-01

    To examine the literature reporting the experiences and perceptions of registered nurses who supervise international nursing students in the clinical and classroom setting. Nursing education relies on clinical experts to supervise students during classroom and clinical education, and the quality of that supervision has a significant impact on student development and learning. Global migration and internationalisation of nursing education have led to increasing numbers of registered nurses supervising international nursing students. However, a paucity of relevant literature limits our understanding of these experiences. An integrative literature review. Comprehensive database searches of CINAHL, Informit, PubMed, Journals@Ovid, Findit@flinders and Medline were undertaken. Screening of 179 articles resulted in 10 included for review. Appraisal and analysis using Whittemore and Knafl's (Journal of Advanced Nursing, 52, 2005, 546) five stage integrative review recommendations was undertaken. This review highlighted some unique challenges for registered nurses supervising international nursing students. Identified issues were, a heightened sense of responsibility, additional pastoral care challenges, considerable time investments, communication challenges and cultural differences between teaching and learning styles. It is possible that these unique challenges could be minimised by implementing role preparation programmes specific to international nursing student supervision. Further research is needed to provide an in-depth exploration of current levels of preparation and support to make recommendations for future practice, education and policy development. An awareness of the specific cultural learning needs of international nursing students is an important first step to the provision of culturally competent supervision for this cohort of students. There is an urgent need for education and role preparation for all registered nurses supervising international nursing

  4. Cortisol responses on the dexamethasone suppression test among women with Bulimia-spectrum eating disorders: associations with clinical symptoms.

    Science.gov (United States)

    Bruce, Kenneth R; Steiger, Howard; Israël, Mimi; Groleau, Patricia; Ng Ying Kin, N M K; Ouellette, Anne-Sophie; Sycz, Lindsay; Badawi, Ghislaine

    2012-08-07

    Evidence associates Bulimia Nervosa (BN) with altered functioning of the hypothalamic-pituitary-adrenal (HPA) axis, but the clinical implications of such alterations need to be better understood. We contrasted cortisol responses to the dexamethasone suppression test (DST) in bulimic and non-eating disordered women and examined relationships among DST cortisol responses, eating symptoms and co-morbid disturbances. Sixty women with Bulimia Spectrum (BS) Disorders (either BN or normal weight Eating Disorder NOS with regular binge eating or purging) and 54 non-eating disordered women of similar age and body mass index participated in a 0.5 mg DST, and completed interviews and questionnaires assessing eating symptoms and co-morbid psychopathology. Compared with the normal-eater group, the BS women demonstrated significantly less DST suppression. Among BS women, DST non-suppression was associated with more severe depression, anxiety and eating preoccupations. Our findings show BS women to show less DST suppression compared to normal eater women, and results link extent of non-suppression, in BS individuals, to severity of depression, anxiety and eating preoccupations. Copyright © 2012 Elsevier Inc. All rights reserved.

  5. The clinical implications of high levels of autism spectrum disorder features in anorexia nervosa: a pilot study.

    Science.gov (United States)

    Huke, Vanessa; Turk, Jeremy; Saeidi, Saeideh; Kent, Andrew; Morgan, John F

    2014-03-01

    This study examined autism spectrum disorder (ASD) features in relation to treatment completion and eating disorder psychopathology in anorexia nervosa (AN). Thirty-two adult women were recruited from specialist eating disorder services. Features of ASD and disordered eating were measured. Premature termination of treatment was recorded to explore whether ASD traits had impact on early discharge. A healthy control group was also recruited to investigate ASD traits between clinical and nonclinical samples. Significant differences were found between the AN group and the healthy control group in obsessive-compulsive disorder traits, depression and anxiety and ASD traits, with significant differences between groups in Social Skill and Attention Switching. The AN group reported no significant relationship between disordered eating severity and ASD traits. No significant effect was found between ASD features and treatment completion. Raw data on premature termination of treatment, despite no statistic impact, showed that seven out of the eight participants with high features of ASD completed treatment as planned compared with 50% of those with low ASD traits. Unexpectedly, this suggests enhanced treatment adherence in ASD. Copyright © 2013 John Wiley & Sons, Ltd and Eating Disorders Association.

  6. Preliminary study of family accommodation in youth with autism spectrum disorders and anxiety: Incidence, clinical correlates, and behavioral treatment response.

    Science.gov (United States)

    Storch, Eric A; Zavrou, Sophia; Collier, Amanda B; Ung, Danielle; Arnold, Elysse B; Mutch, P Jane; Lewin, Adam B; Murphy, Tanya K

    2015-08-01

    Anxiety symptoms are common in youth with autism spectrum disorders (ASD) and directly associated with symptom severity and functional impairment. Family accommodation occurs frequently among individuals with obsessive-compulsive and anxiety disorders; to date, no data exist on the nature and correlates of family accommodation in youth with ASD and anxiety, as well as its relationship to cognitive-behavioral therapy outcome. Forty children with ASD and a comorbid anxiety disorder participated. Clinicians administered measures of ASD and anxiety disorder caseness, anxiety symptom severity, and family accommodation; parents completed questionnaires assessing social responsiveness, internalizing and externalizing behaviors, and functional impairment. A subsample of youth (n = 24) completed a course of cognitive-behavioral therapy. Family accommodation was common and positively correlated with anxiety symptom severity, but not functional impairment, general internalizing symptoms, externalizing behavior, or social responsiveness. Family accommodation decreased following cognitive-behavioral therapy with decreases in family accommodation being associated with decreases in anxiety levels. Treatment responders reported lower family accommodation frequency and lower parent impact relative to non-responders. Clinical implications of this study in assessing and psychotherapeutically treating youth with ASD and comorbid anxiety are discussed. Copyright © 2015 Elsevier Ltd. All rights reserved.

  7. Understanding facial expressivity in autism spectrum disorder: An inside out review of the biological basis and clinical implications.

    Science.gov (United States)

    Deutsch, Stephen I; Raffaele, C Teal

    2018-05-16

    Deficits in decoding and understanding facially expressed emotions occur commonly in persons with autism spectrum disorder (ASD), which contribute to the impairment of social communication that serves as one of its core diagnostic criteria. Research suggests that abnormalities of visual scanning of the face, activation of key nodes within the "social brain" by facially expressed emotions, functional connectivity within and between nodes of the "social brain", and transduction of specific neurotransmitter/neuromodulatory signals contribute to the pathogenesis of these deficits in at least some persons with ASD. Importantly, the etiologies of these deficits are heterogeneous and include genetic, immunologic, and inflammatory mechanisms, as well as in utero exposures to drugs and toxins. The manifestation and severity of these deficits can also be influenced by developmental age, IQ and genetic background. Consistent with the goals of the Special Issue, the current Review is intended to familiarize the readership with several of the leading neurobiological mechanisms proposed to underlie these deficits in decoding facially expressed emotions and stimulate interest in translational preclinical and clinical investigations, whose ultimate purpose is to attenuate their severity and, thereby, improve functional outcomes of persons with ASD. Copyright © 2018 Elsevier Inc. All rights reserved.

  8. Clinical use of coping in affective disorder, a critical review of the literature

    DEFF Research Database (Denmark)

    Christensen, Maj Vinberg; Kessing, Lars Vedel

    2005-01-01

    /or avoidance coping styles are associated with a higher risk of developing affective disorder, so this hypothesis remains unclear. Most studies shows that emotion-oriented and avoidance coping strategies are associated with relapse of depressive episodes. Conversely, problem-focused and task-oriented coping......BACKGROUND: The relationship between life stressors, coping and affective disorder is interesting when predicting onset of a affective disorder and relapse of mood episodes. METHODS: A literature review of cross-sectional and longitudinal studies concerning coping and affective disorder in adults...... including a Medline and Embase search was conducted. RESULTS: 11 cross-sectional studies and 17 longitudinal studies concerning affective disorder and coping were found, among these, two studies include patients with bipolar disorder exclusively. Only four studies elucidate whether emotion-oriented and...

  9. Oral Anticoagulant Use After Bariatric Surgery: A Literature Review and Clinical Guidance.

    Science.gov (United States)

    Martin, Karlyn A; Lee, Craig R; Farrell, Timothy M; Moll, Stephan

    2017-05-01

    Bariatric surgery may alter the absorption, distribution, metabolism, or elimination (disposition) of orally administered drugs via changes to the gastrointestinal tract anatomy, body weight, and adipose tissue composition. As some patients who have undergone bariatric surgery will need therapeutic anticoagulation for various indications, appropriate knowledge is needed regarding anticoagulant drug disposition and resulting efficacy and safety in this population. We review general considerations about oral drug disposition in patients after bariatric surgery, as well as existing literature on oral anticoagulation after bariatric surgery. Overall, available evidence on therapeutic anticoagulation is very limited, and individual drug studies are necessary to learn how to safely and effectively use the direct oral anticoagulants. Given the sparsity of currently available data, it appears most prudent to use warfarin with international normalized ratio monitoring, and not direct oral anticoagulants, when full-dose anticoagulation is needed after bariatric surgery. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. The clinical and imaging manifestations of tuberculous esophagitis (report of a case and a review of literatures)

    International Nuclear Information System (INIS)

    Cui Fa; He Yunfei

    2006-01-01

    Objective: To improve the understanding of tuberculous esophagifis through a case report and literatures. Method: Retrospectively analyze the clinical and imaging (a barium swallow and CT examination) manifestations of a case of tuberculous esophagifis proved by postoperative pathology. Results: A barium swallow showed a smooth impression over mid third of esophagus anteriorly wall and a niche of approximately 10mm in daimeterin with no mucosal abnormality. CT showed enlarged paratracheak and paraesophageal lymph nodes compressing the esophagus anteriorly. The presumptive diagnosis was lymphoma involved the mediasfinum and the esophagus. Conclusion: Careful and integrative analysis of multiple imaging demonstration can improve diagnosis accuracy of the disease. (authors)

  11. Clinical impact of renography in antenatally discovered pelviureteric stenosis: a short review of the literature

    International Nuclear Information System (INIS)

    Froekiaer, J.; Eskild-Jensen, A.

    2003-01-01

    Congenital unilateral hydronephrosis is a relatively frequent and often asymptomatic condition diagnosed in utero. The natural history and significance of congenital hydronephrosis on the development and long-term consequences on renal function is not sufficiently known. The present diagnostic methods do not provide prediction of the functional consequences of a potential presence of an obstruction. However, renography is an important method affecting the clinical treatment of children with prenatal unilateral hydronephrosis, and is the only method that satisfactory can provide serial accurate measurements of differential renal function. The present review briefly summarizes the clinical impact of renography in neonatally discovered hydronephrosis in relation to the pathophysiological characteristics of congenital unilateral hydronephrosis. (orig.) [de

  12. Case Reports of Cat Scratch Disease with Typical and Atypical Clinical Manifestations: A Literature Review

    Directory of Open Access Journals (Sweden)

    Gulshan Umbreen

    2017-04-01

    Full Text Available Cat scratch disease (CSD is the most well-known zoonotic disease spread by domestic animals like cats. Cats are the source of Bartonella henselae. Most patients more than ninety percent 3-12 days after a scratch from a cat, undoubtedly a little cat with insects present with one or more erythematous injuries at the site of inoculation, the sore is typically a crusted papule or, once in a while, a pustule. More than half of cases in one study show that the systemic indications went with the lymphadenopathy. These may incorporate fever, discomfort, migraine and anorexia and frequently happen in immunocompromised patients. Atypically clinical manifestations happen are altered mental status, perplexity, prolonged fever, respiratory protestations (atypical pneumonitis, Joint pain, synovitis, Back agony is uncommon. The hypothesis of the study to find out that cat scratch disease cause typical and atypical clinical manifestation. Study was conducted July 2015 to September 2015. The methodology sections of a review article are listed all of the databases and citation indexes that were searched such as Web of Science and PubMed and any individual journals that were searched. Various case reports were mentioned in the study. Case reports of cat scratch diseases with typical and atypical clinical manifestation included in the study. The objective of review of these reporting cases is to make physicians aware about cat scratch diseases and also need to create awareness about cat scratch disease in pet owner. Although it is self-limiting needs to report to health authorities. There are few cases reported in which mostly cases reported in twain, japan, Brazil, Texas, United States, Dhaka, Spain with typical and atypical clinical manifestation

  13. [Analysis of clinical and imaging characteristics of infectious sacroiliac arthritis and review of literatures].

    Science.gov (United States)

    Wang, Gang; Wang, Yanyan; Zhu, Jian; Jin, Jingyu; Zhao, Zheng; Zhang, Jianglin; Huang, Feng

    2015-05-01

    To study the clinical and imaging characteristics of patients with infectious sacroiliac arthritis. Twenty-one patients diagnosed with infectious sacroiliac arthritis were analyzed retrospectively between 2000 and 2014. The chief complaint was pain in hip and lumbosacral area. Their clinical features, laboratory tests and pathological examination results as well as CT/MRI/PET-CT images were evaluated. There were nine males and thirteen females eighteen (85.7%) patients had unilateral sacroiliac joint involvement. Among these patients, three were diagnosed with brucellosis sacroiliac arthritis (BSI), eight patients with tuberculosis sacroiliac arthritis (TSI), and ten patients with non-brucellosis and non-tuberculosis infectious sacroiliac arthritis (ISI). For those patients with non-brucellosis and non-tuberculosis infectious sacroiliac arthritis, white blood cell count, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were dramatically increased. Twelve patients were diagnosed pathologically including 6 ISI, 2 BSI and 4 TSI. Twelve patients and seventeen patients were scanned by CT and MRI respectively. Two patients undertook PET-CT examination. Antibiotic therapy showed significant therapeutic effects in all patients. Infectious sacroiliac arthritis patients with hip or lumbosacral pain as the chief complaint can be easily misdiagnosed as spondyloarthritis. Comprehensive analysis of clinical features, imaging and laboratory findings is essential for accurate diagnosis.

  14. Benign mesial temporal lobe epilepsy: A clinical cohort and literature review.

    Science.gov (United States)

    AlQassmi, Amal; Burneo, Jorge G; McLachlan, Richard S; Mirsattari, Seyed M

    2016-12-01

    We present a single-center retrospective study of benign mesial temporal lobe epilepsy (bMTLE) between 1995 and 2014. Hospital records and clinic charts were reviewed. The clinical, Eelectroencephalographic (EEG), imaging features, and response to treatment with antiepileptic drugs (AEDs) were documented. Patients were included in this study if they were seizure-free for a minimum of 24months with or without an AED. Twenty-seven patients were identified. There were 19 (70%) females, mean age at first seizure was 32.2 (range: 15-80years). In all patients, seizures were mild, and seizure freedom was readily achieved with the initiation of AED therapy. Sixteen patients (59%) had mesial temporal sclerosis (MTS). In three patients, we attempted to discontinue AED therapy after a prolonged period of remission (5-8years), but all had seizure recurrence within 2 to 4weeks. Not all temporal lobe epilepsy is refractory to medication, despite the presence of MTS. Until clinical trials indicate otherwise, surgery is not indicated but life-long medical treatment is advocated. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Chyawanprash: A review of therapeutic benefits as in authoritative texts and documented clinical literature.

    Science.gov (United States)

    Narayana, D B Anantha; Durg, Sharanbasappa; Manohar, P Ram; Mahapatra, Anita; Aramya, A R

    2017-02-02

    Chyawanprash (CP), a traditional immune booster recipe, has a long history of ethnic origin, development, household preparation and usage. There are even mythological stories about the origin of this recipe including its nomenclature. In the last six decades, CP, because of entrepreneurial actions of some research Vaidyas (traditional doctors) has grown to industrial production and marketing in packed forms to a large number of consumers/patients like any food or health care product. Currently, CP has acquired a large accepted user base in India and in a few countries out-side India. Authoritative texts, recognized by the Drugs and Cosmetics Act of India, describe CP as an immunity enhancer and strength giver meant for improving lung functions in diseases with compromised immunity. This review focuses on published clinical efficacy and safety studies of CP for correlation with health benefits as documented in the authoritative texts, and also briefs on its recipes and processes. Authoritative texts were searched for recipes, processes, and other technical details of CP. Labels of marketing CP products (Indian) were studied for the health claims. Electronic search for studies of CP on efficacy and safety data were performed in PubMed/MEDLINE and DHARA (Digital Helpline for Ayurveda Research Articles), and Ayurvedic books were also searched for clinical studies. The documented clinical studies from electronic databases and Ayurvedic books evidenced that individuals who consume CP regularly for a definite period of time showed improvement in overall health status and immunity. However, most of the clinical studies in this review are of smaller sample size and short duration. Further, limitation to access and review significant data on traditional products like CP in electronic databases was noted. Randomized controlled trials of high quality with larger sample size and longer follow-up are needed to have significant evidence on the clinical use of CP as immunity

  16. Depression and Anxiety During Pregnancy: Evaluating the Literature in Support of Clinical Risk-Benefit Decision-Making.

    Science.gov (United States)

    Dalke, Katharine Baratz; Wenzel, Amy; Kim, Deborah R

    2016-06-01

    Depression and anxiety during pregnancy are common, and patients and providers are faced with complex decisions regarding various treatment modalities. A structured discussion of the risks and benefits of options with the patient and her support team is recommended to facilitate the decision-making process. This clinically focused review, with emphasis on the last 3 years of published study data, evaluates the major risk categories of medication treatments, namely pregnancy loss, physical malformations, growth impairment, behavioral teratogenicity, and neonatal toxicity. Nonpharmacological treatment options, including neuromodulation and psychotherapy, are also briefly reviewed. Specific recommendations, drawn from the literature and the authors' clinical experience, are also offered to help guide the clinician in decision-making.

  17. Arteriovenous malformation of the external ear: a clinical assessment with a scoping review of the literature

    Directory of Open Access Journals (Sweden)

    Shin Hye Kim

    Full Text Available Abstract Introduction: Auricular Arteriovenous Malformation of the external ear is a rarely encountered disease; in particular, arteriovenous malformation arising from the auricle, with spontaneous bleeding, has seldom been reported. Objective: In the current study, we report an unusual case of late-onset auricular arteriovenous malformation originating from the posterior auricular artery that was confirmed by computed tomographic angiography. The case was successfully managed by pre-surgical intravascular embolization followed by total lesion excision. Prompted by this case, we also present a scoping review of the literature. Methods: A case of a 60 year-old man with right auricular arteriovenous malformation treated in our tertiary care center, and 52 patients with auricular arteriovenous malformation described in 10 case reports and a retrospective review are presented. Auricular arteriovenous malformation can manifest as swelling of the ear, pulsatile tinnitus, pain, and/or bleeding. On physical examination, a pulsatile swelling and/or a tender mass is evident. When arteriovenous malformation is suspected, the lesions should be visualized using imaging modalities that optimally detect vascular lesions, and managed via embolization, mass excision, or auricular resection. Effectiveness of the various diagnostic methods used and the treatment outcomes were analyzed. Results: Various imaging modalities including Doppler sonography, computed tomographic angiography, magnetic resonance angiography, and/or transfemoral cerebral angiography were used to diagnose 38 cases reported in the literature. In another 15 cases, no imaging was performed; treatment was determined solely by physical examination and auscultation. Of the total of 53 cases, 12 were not treated (their symptoms were merely observed whereas 20 underwent therapeutic embolization. In total, 32 patients, including 1 patient who was not treated and 10 with persistent or aggravated

  18. The Mental Health of Individuals Referred for Assessment of Autism Spectrum Disorder in Adulthood: A Clinic Report

    Science.gov (United States)

    Russell, Ailsa J.; Murphy, Clodagh M.; Wilson, Ellie; Gillan, Nicola; Brown, Cordelia; Robertson, Dene M.; Craig, Michael C.; Deeley, Quinton; Zinkstok, Janneke; Johnston, Kate; McAlonan, Grainne M.; Spain, Deborah; Murphy, Declan G. M.

    2016-01-01

    Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric…

  19. Symptomatic lumbosacral transitional vertebra: a review of the current literature and clinical outcomes following steroid injection or surgical intervention

    Directory of Open Access Journals (Sweden)

    Holm Emil Kongsted

    2017-01-01

    Full Text Available Bertolotti’s syndrome (BS refers to the possible association between the congenital malformation lumbosacral transitional vertebra (LSTV, and low back pain (LBP. Several treatments have been proposed including steroid injections, resections of the LSTV, laminectomy, and lumbar spinal fusion. The aim of this review was to compare the clinical outcomes in previous trials and case reports for these treatments in patients with LBP and LSTV. A PubMed search was conducted. We included English studies of patients diagnosed with LSTV treated with steroid injection, laminectomy, spinal fusion or resection of the transitional articulation. Of 272 articles reviewed 20 articles met the inclusion criteria. Their level of evidence were graded I–V and the clinical outcomes were evaluated. Only 1 study had high evidence level (II. The remainders were case series (level IV. Only 5 studies used validated clinical outcome measures. A total of 79 patients were reported: 31 received treatment with steroid injections, 33 were treated with surgical resection of the LSTV, 8 received lumbar spinal fusion, and 7 cases were treated with laminectomy. Surgical management seems to improve the patient’s symptoms, especially patients diagnosed with “far out syndrome” treated with laminectomy. Clinical outcomes were more heterogenetic for patient’s treated with steroid injections. The literature regarding BS is sparse and generally with low evidence. Non-surgical management (e.g., steroid injections and surgical intervention could not directly be compared due to lack of standardization in clinical outcome. Generally, surgical management seems to improve patient’s clinical outcome over time, whereas steroid injection only improves the patient’s symptoms temporarily. Further studies with larger sample size and higher evidence are warranted for the clinical guidance in the treatment of BS.

  20. Symptomatic lumbosacral transitional vertebra: a review of the current literature and clinical outcomes following steroid injection or surgical intervention.

    Science.gov (United States)

    Holm, Emil Kongsted; Bünger, Cody; Foldager, Casper Bindzus

    2017-01-01

    Bertolotti's syndrome (BS) refers to the possible association between the congenital malformation lumbosacral transitional vertebra (LSTV), and low back pain (LBP). Several treatments have been proposed including steroid injections, resections of the LSTV, laminectomy, and lumbar spinal fusion. The aim of this review was to compare the clinical outcomes in previous trials and case reports for these treatments in patients with LBP and LSTV. A PubMed search was conducted. We included English studies of patients diagnosed with LSTV treated with steroid injection, laminectomy, spinal fusion or resection of the transitional articulation. Of 272 articles reviewed 20 articles met the inclusion criteria. Their level of evidence were graded I-V and the clinical outcomes were evaluated. Only 1 study had high evidence level (II). The remainders were case series (level IV). Only 5 studies used validated clinical outcome measures. A total of 79 patients were reported: 31 received treatment with steroid injections, 33 were treated with surgical resection of the LSTV, 8 received lumbar spinal fusion, and 7 cases were treated with laminectomy. Surgical management seems to improve the patient's symptoms, especially patients diagnosed with "far out syndrome" treated with laminectomy. Clinical outcomes were more heterogenetic for patient's treated with steroid injections. The literature regarding BS is sparse and generally with low evidence. Non-surgical management (e.g., steroid injections) and surgical intervention could not directly be compared due to lack of standardization in clinical outcome. Generally, surgical management seems to improve patient's clinical outcome over time, whereas steroid injection only improves the patient's symptoms temporarily. Further studies with larger sample size and higher evidence are warranted for the clinical guidance in the treatment of BS. © The Authors, published by EDP Sciences, 2017.

  1. The impact of clinical trial monitoring approaches on data integrity and cost--a review of current literature.

    Science.gov (United States)

    Olsen, Rasmus; Bihlet, Asger Reinstrup; Kalakou, Faidra; Andersen, Jeppe Ragnar

    2016-04-01

    Monitoring is a costly requirement when conducting clinical trials. New regulatory guidance encourages the industry to consider alternative monitoring methods to the traditional 100 % source data verification (SDV) approach. The purpose of this literature review is to provide an overview of publications on different monitoring methods and their impact on subject safety data, data integrity, and monitoring cost. The literature search was performed by keyword searches in MEDLINE and hand search of key journals. All publications were reviewed for details on how a monitoring approach impacted subject safety data, data integrity, or monitoring costs. Twenty-two publications were identified. Three publications showed that SDV has some value for detection of not initially reported adverse events and centralized statistical monitoring (CSM) captures atypical trends. Fourteen publications showed little objective evidence of improved data integrity with traditional monitoring such as 100 % SDV and sponsor queries as compared to reduced SDV, CSM, and remote monitoring. Eight publications proposed a potential for significant cost reductions of monitoring by reducing SDV without compromising the validity of the trial results. One hundred percent SDV is not a rational method of ensuring data integrity and subject safety based on the high cost, and this literature review indicates that reduced SDV is a viable monitoring method. Alternative methods of monitoring such as centralized monitoring utilizing statistical tests are promising alternatives but have limitations as stand-alone tools. Reduced SDV combined with a centralized, risk-based approach may be the ideal solution to reduce monitoring costs while improving essential data quality.

  2. [Congenital cystic lung lesions--review of the literature with three clinical cases].

    Science.gov (United States)

    Slancheva, B; Hitrova, S; Markov, D; Vakrilova, L; Pramatarova, T; Yarukova, N; Brankov, O

    2013-01-01

    Congenital cystic lung lesions are rare. Mainly affects the lower respiratory patishta.i are congenital cystic malformation and adematozna bronchopulmonary sequestration (BPS). The pathogenesis of the occurrence of these malformations is not clear but they have a common clinical course. In most cases, the anomaly is asymptomatic and occurs with infections of the lung during the first year of life. Currently congenital lung lesions were classified into five types and is considered by most authors. The anomaly is due to the abnormal proliferation of terminal bronchioles accompanied by inhibition of alveolar development between 7-17 weeks, obstructed airway dysplasia and metaplasia of normal lung tissue. Early diagnosis is vital in making a medical decision on how to treat CCAM. Associated with abnormalities of the urinary tract, cardiovascular system, gastrointestinal atresia, diaphragmatic hernia skeletal abnormalities. In pregnancies in which prenatal lung lesions weighs registered necessary series of ultrasound examinations to track finding and using the Doppler to assess how the blood supply of the fault. The clinical presentation of malformations is respiratory distress, respiratory infection, and dyspnea. The use of CT and MRA allows better visualization of the pulmonary lesions. With its combination with arteriography and bronchoscopy are used to differentiate CCAM and pulmonary sequestration. We present three cases with lung lesions were born in Neonatologia clinic at the University Hospital of Obstetrics and Gynecology "Maternity" Sofia for the period 2010-2012 three cases CCAMs type 1, operated by 5 meters after birth with a good final outcome without complications in the postoperative period and lack of pulmonary symptoms up to 1 year after birth.

  3. Clinical importance of the middle meningeal artery: A review of the literature

    Science.gov (United States)

    Yu, Jinlu; Guo, Yunbao; Xu, Baofeng; Xu, Kan

    2016-01-01

    The middle meningeal artery (MMA) is a very important artery in neurosurgery. Many diseases, including dural arteriovenous fistula (DAVF), pseudoaneurysm, true aneurysm, traumatic arteriovenous fistula (AVF), moyamoya disease (MMD), recurrent chronic subdural hematoma (CSDH), migraine and meningioma, can involve the MMA. In these diseases, the lesions occur in either the MMA itself and treatment is necessary, or the MMA is used as the pathway to treat the lesions; therefore, the MMA is very important to the development and treatment of a variety of neurosurgical diseases. However, no systematic review describing the importance of MMA has been published. In this study, we used the PUBMED database to perform a review of the literature on the MMA to increase our understanding of its role in neurosurgery. After performing this review, we found that the MMA was commonly used to access DAVFs and meningiomas. Pseudoaneurysms and true aneurysms in the MMA can be effectively treated via endovascular or surgical removal. In MMD, the MMA plays a very important role in the development of collateral circulation and indirect revascularization. For recurrent CDSHs, after burr hole irrigation and drainage have failed, MMA embolization may be attempted. The MMA can also contribute to the occurrence and treatment of migraines. Because the ophthalmic artery can ectopically originate from the MMA, caution must be taken to avoid causing damage to the MMA during operations. PMID:27766029

  4. Clinical importance of the middle meningeal artery: A review of the literature.

    Science.gov (United States)

    Yu, Jinlu; Guo, Yunbao; Xu, Baofeng; Xu, Kan

    2016-01-01

    The middle meningeal artery (MMA) is a very important artery in neurosurgery. Many diseases, including dural arteriovenous fistula (DAVF), pseudoaneurysm, true aneurysm, traumatic arteriovenous fistula (AVF), moyamoya disease (MMD), recurrent chronic subdural hematoma (CSDH), migraine and meningioma, can involve the MMA. In these diseases, the lesions occur in either the MMA itself and treatment is necessary, or the MMA is used as the pathway to treat the lesions; therefore, the MMA is very important to the development and treatment of a variety of neurosurgical diseases. However, no systematic review describing the importance of MMA has been published. In this study, we used the PUBMED database to perform a review of the literature on the MMA to increase our understanding of its role in neurosurgery. After performing this review, we found that the MMA was commonly used to access DAVFs and meningiomas. Pseudoaneurysms and true aneurysms in the MMA can be effectively treated via endovascular or surgical removal. In MMD, the MMA plays a very important role in the development of collateral circulation and indirect revascularization. For recurrent CDSHs, after burr hole irrigation and drainage have failed, MMA embolization may be attempted. The MMA can also contribute to the occurrence and treatment of migraines. Because the ophthalmic artery can ectopically originate from the MMA, caution must be taken to avoid causing damage to the MMA during operations.

  5. Surgical Procedures and Clinical Considerations for Impacted Canines: A Literature Review

    Directory of Open Access Journals (Sweden)

    Parviz Torkzaban

    2016-09-01

    Full Text Available Impaction of canine teeth is a clinical problem whose treatment usually requires an interdisciplinary approach. After the maxillary third molar, the maxillary canine is the second-most commonly impacted tooth, with an incidence of 1% - 2.5%. Maxillary canines are more common in females than males. This study reviews the surgical treatments and orthodontic considerations for impacted canines exposure reported in previous studies. The clinician should be aware of variations in the surgical management of labially and palatally impacted canines, as well as the most common methods of canine in orthodontic application, and the implications of canine extraction. The different factors that affect these decisions are discussed.

  6. Gene Electrotransfer to Skin; Review of Existing Literature and Clinical Perspectives

    DEFF Research Database (Denmark)

    Gothelf, A.; Gehl, Julie

    2010-01-01

    Gene electrotransfer, which designates the combination of gene transfer and electroporation, is a non-viral means for transfecting genes into cells and tissues. It is a safe and efficient method and reports regarding the use of this technique in a variety of animal models and organs have been...... to now more than 40 papers have been published in which gene electrotransfer was the technique used for gene transfection to skin in vivo. The aim of this review is to summarize which plasmids were injected and the electrical parameters applied. Furthermore an overview of the clinical perspectives...

  7. Clinical correlates of common corneal neovascular diseases:a literature review

    Directory of Open Access Journals (Sweden)

    Nizar Saleh Abdelfattah

    2015-02-01

    Full Text Available A large subset of corneal pathologies involves the formation of new blood and lymph vessels (neovascularization, leading to compromised visual acuity. This article aims to review the clinical causes and presentations of corneal neovascularization (CNV by examining the mechanisms behind common CNV-related corneal pathologies, with a particular focus on herpes simplex stromal keratitis, contact lenses-induced keratitis and CNV secondary to keratoplasty. Moreover, we reviewed CNV in the context of different types of corneal transplantation and keratoprosthesis, and summarized the most relevant treatments available so far.

  8. Clinical outcomes of an early intervention program for preschool children with Autism Spectrum Disorder in a community group setting.

    Science.gov (United States)

    Eapen, Valsamma; Crnčec, Rudi; Walter, Amelia

    2013-01-07

    Available evidence indicates that early intervention programs, such as the Early Start Denver Model (ESDM), can positively affect key outcomes for children with Autism Spectrum Disorder (ASD). However, programs involving resource intensive one-to-one clinical intervention are not readily available or deliverable in the community, resulting in many children with ASD missing out on evidence-based intervention during their early and most critical preschool years. This study evaluated the effectiveness of the ESDM for preschool-aged children with ASD using a predominantly group-based intervention in a community child care setting. Participants were 26 children (21 male) with ASD with a mean age of 49.6 months. The ESDM, a comprehensive early intervention program that integrates applied behaviour analysis with developmental and relationship-based approaches, was delivered by trained therapists during the child's attendance at a child care centre for preschool-aged children with ASD. Children received 15-20 hours of group-based, and one hour of one-to-one, ESDM intervention per week. The average intervention period was ten months. Outcome measures were administered pre- and post-intervention, and comprised a developmental assessment - the Mullen Scales of Early Learning (MSEL); and two parent-report questionnaires - the Social Communication Questionnaire (SCQ) and Vineland Adaptive Behaviours Scales-Second Edition (VABS-II). Statistically significant post-intervention improvements were found in children's performance on the visual reception, receptive language and expressive language domains of the MSEL in addition to their overall intellectual functioning, as assessed by standardised developmental quotients. Parents reported significant increases in their child's receptive communication and motor skills on the VABS-II, and a significant decrease in autism-specific features on the SCQ. These effects were of around medium size, and appeared to be in excess of what may

  9. Self-controlled technologies to support skill attainment in persons with an autism spectrum disorder and/or an intellectual disability: a systematic literature review.

    NARCIS (Netherlands)

    den Brok, W.L.J.E.; Sterkenburg, P.S.

    2015-01-01

    Persons with an autism spectrum disorder and/or intellectual disability have difficulties in processing information, which impedes the learning of daily living skills and cognitive concepts. Technological aids support learning, and if used temporarily and in a self-controlled manner, they may

  10. School Experiences of Students with Autism Spectrum Disorder within the Context of Student Wellbeing: A Review and Analysis of the Literature

    Science.gov (United States)

    Danker, Joanne; Strnadová, Iva; Cumming, Therese M.

    2016-01-01

    There has been an increasing body of research on student wellbeing in recent years. Despite this, there is much debate on the notion of student wellbeing, along with a lack of studies focusing on the wellbeing of students with autism spectrum disorder (ASD). A total of 12 studies on the wellbeing of typically developing students were used to…

  11. Evaluating the Effectiveness of Video Instruction on Social and Communication Skills Training for Children with Autism Spectrum Disorders: A Review of the Literature

    Science.gov (United States)

    Shukla-Mehta, Smita; Miller, Trube; Callahan, Kevin J.

    2010-01-01

    Video instruction as an intervention for teaching skills to children with Autism Spectrum Disorders (ASD) is gaining increased momentum in applied settings.Video instruction, comprised of video modeling, video self-modeling, and point-of-view video, has been utilized in various fields of study with various populations and target behaviors.…

  12. Expectations in the field of the internet and health: an analysis of claims about social networking sites in clinical literature.

    Science.gov (United States)

    Koteyko, Nelya; Hunt, Daniel; Gunter, Barrie

    2015-03-01

    This article adopts a critical sociological perspective to examine the expectations surrounding the uses of social networking sites (SNSs) articulated in the domain of clinical literature. This emerging body of articles and commentaries responds to the recent significant growth in SNS use, and constitutes a venue in which the meanings of SNSs and their relation to health are negotiated. Our analysis indicates how clinical writing configures the role of SNSs in health care through a range of metaphorical constructions that frame SNSs as a tool, a conduit for information and a traversable space. The use of such metaphors serves not only to describe the new affordances offered by SNSs but also posits distinct lay and professional practices, while reviving a range of celebratory claims about the Internet and health critiqued in sociological literature. These metaphorical descriptions characterise SNS content as essentially controllable by autonomous users while reiterating existing arguments that e-health is both inherently empowering and risky. Our analysis calls for a close attention to these understandings of SNSs as they have the potential to shape future online initiatives, most notably by anticipating successful professional interventions while marginalising the factors that influence users' online and offline practices and contexts. © 2015 The Authors. Sociology of Health & Illness published by John Wiley & Sons Ltd on behalf of Foundation for Sociology of Health & Illness.

  13. Expectations in the field of the Internet and health: an analysis of claims about social networking sites in clinical literature

    Science.gov (United States)

    Koteyko, Nelya; Hunt, Daniel; Gunter, Barrie

    2015-01-01

    This article adopts a critical sociological perspective to examine the expectations surrounding the uses of social networking sites (SNSs) articulated in the domain of clinical literature. This emerging body of articles and commentaries responds to the recent significant growth in SNS use, and constitutes a venue in which the meanings of SNSs and their relation to health are negotiated. Our analysis indicates how clinical writing configures the role of SNSs in health care through a range of metaphorical constructions that frame SNSs as a tool, a conduit for information and a traversable space. The use of such metaphors serves not only to describe the new affordances offered by SNSs but also posits distinct lay and professional practices, while reviving a range of celebratory claims about the Internet and health critiqued in sociological literature. These metaphorical descriptions characterise SNS content as essentially controllable by autonomous users while reiterating existing arguments that e-health is both inherently empowering and risky. Our analysis calls for a close attention to these understandings of SNSs as they have the potential to shape future online initiatives, most notably by anticipating successful professional interventions while marginalising the factors that influence users’ online and offline practices and contexts. PMID:25847533

  14. Choroid plexus carcinoma: clinical and radiological features of four cases and review of literature

    International Nuclear Information System (INIS)

    Rogacheski, Enio; Carvalho Neto, Arnolfo de; Nascimento, Alessandra Bettega; Jacob, Graciela Vanessa Vicelli; Delle, Linei Augusta Brolini; Liu, Christian Bark; Belggi-Torres, Luis Fernando

    1998-01-01

    Choroid plexus carcinoma (CPC) is rare central nervous system (CNS) tumor that accounts for nearly 0.06% of all intracranial neoplasms, most frequently occurring in patients less than 3 years of age. The authors present a clinical and radiological study of four patients with the diagnosis of CPC. The research was undertaken in the archives of radiology in the University Hospital of Curitiba, Parana State, Brazil, in the period from 1990 to 1997. The exams related to the CNS were catalogued and the CPC cases were looked into. Three of the patients were male and the mean age was 13.7 months. The clinical symptoms reported were due to intracranial hypertension, and the most common location was the lateral ventricles. Computed tomography scans show hydrocephalus and a mass hyperdense to the brain parenchyma, with marked enhancement post-contrast. Surgical resection was attempted in all patients. One of them died during the procedures. All of the other underwent relapse and died within an average of 7 months after the diagnosis. (author)

  15. Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.

    Science.gov (United States)

    Sindoni, Alessandro; Rodolico, Carmelo; Pappalardo, Maria Angela; Portaro, Simona; Benvenga, Salvatore

    2016-12-01

    Abnormalities in thyroid function are common endocrine disorders that affect 5-10 % of the general population, with hypothyroidism occurring more frequently than hyperthyroidism. Clinical symptoms and signs are often nonspecific, particularly in hypothyroidism. Muscular symptoms (stiffness, myalgias, cramps, easy fatigability) are mentioned by the majority of patients with frank hypothyroidism. Often underestimated is the fact that muscle symptoms may represent the predominant or the only clinical manifestation of hypothyroidism, raising the issue of a differential diagnosis with other causes of myopathy, which sometimes can be difficult. Elevated serum creatine kinase, which not necessarily correlates with the severity of the myopathic symptoms, is certainly suggestive of muscle impairment, though it does not explain the cause. Rare muscular manifestations, associated with hypothyroidism, are rhabdomyolysis, acute compartment syndrome, Hoffman's syndrome and Kocher-Debré-Sémélaigne syndrome. Though the pathogenesis of hypothyroid myopathy is not entirely known, proposed mechanisms include altered glycogenolytic and oxidative metabolism, altered expression of contractile proteins, and neuro-mediated damage. Correlation studies of haplotype, muscle gene expression and protein characterization, could help understanding the pathophysiological mechanisms of this myopathic presentation of hypothyroidism.

  16. Cigarette smoking impairs clinical outcomes of assisted reproduction technologies: a meta-analysis of the literature.

    Science.gov (United States)

    Budani, Maria Cristina; Fensore, Stefania; Di Marzio, Marco; Tiboni, Gian Mario

    2018-06-12

    There is convincing evidence that cigarette smoking can impair female reproductive potential. This meta-analysis updates the knowledge regarding the effects of cigarette smoking on clinical outcomes of assisted reproductive technologies (ART). Twenty-six studies were included in this meta-analysis. Results were expressed as odds ratios (OR) with 95% confidence intervals (CI) and statistical heterogeneity between the studies was evaluated with Higgins (I 2 ), Breslow (τ 2 ), Birge's ratio (H 2 ) indices and Chi-square test (χ 2 ). A P-value < 0.05 was considered statistically significant. The analysis showed a significant decrease in live birth rate per cycle for smoking patients (OR 0.59, 95% CI 0.44-0.79; P = 0.0005), a significant lower clinical pregnancy rate per cycle for smoking women (OR 0.53, 95% CI 0.41-0.68; P < 0.0001), and a significant increase in terms of spontaneous miscarriage rate (OR 2.22, 95% CI 1.10-4.48; P = 0.025) for smokers. These findings demonstrate clear negative effects of cigarette smoking on the outcome of ART programs. Copyright © 2018 Elsevier Inc. All rights reserved.

  17. Separation anxiety disorder from the perspective of DSM-5: clinical investigation among subjects with panic disorder and associations with mood disorders spectrum.

    Science.gov (United States)

    Gesi, Camilla; Abelli, Marianna; Cardini, Alessandra; Lari, Lisa; Di Paolo, Luca; Silove, Derrick; Pini, Stefano

    2016-02-01

    High levels of comorbidity between separation anxiety disorder (SEPAD) and panic disorder (PD) have been found in clinical settings. In addition, there is some evidence for a relationship involving bipolar disorder (BD) and combined PD and SEPAD. We aim to investigate the prevalence and correlates of SEPAD among patients with PD and whether the presence of SEPAD is associated with frank diagnoses of mood disorders or with mood spectrum symptoms. Adult outpatients (235) with PD were assessed by the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I), the Panic Disorder Severity Scale (PDSS), the Structured Clinical Interview for Separation Anxiety Symptoms (SCI-SAS), and the Mood Spectrum Self-Report Instrument (MOODS-SR, lifetime version). Of ther 235 subjects, 125 (53.2%) were categorized as having SEPAD and 110 (46.8%) as not. Groups did not differ regarding onset of PD, lifetime prevalence of obsessive compulsive disorder (OCD), social phobia, simple phobia, BD I and II, or major depressive disorder (MDD). SEPAD subjects were more likely to be female and younger; they showed higher rates of childhood SEPAD, higher PDSS scores, and higher MOODS-SR total and manic component scores than subjects without SEPAD. Discussion SEPAD is highly prevalent among PD subjects. Patients with both PD and SEPAD show higher lifetime mood spectrum symptoms than patients with PD alone. Specifically, SEPAD is correlated with the manic/hypomanic spectrum component. Our data confirm the high prevalence of SEPAD in clinical settings. Moreover, our findings corroborate a relationship between mood disorders and SEPAD, highlighting a relationship between lifetime mood spectrum symptoms and SEPAD.

  18. Social, Organizational, and Contextual Characteristics of Clinical Decision Support Systems for Intensive Insulin Therapy: A Literature Review and Case Study

    Science.gov (United States)

    Campion, Thomas R.; Waitman, Lemuel R.; May, Addison K.; Ozdas, Asli; Lorenzi, Nancy M.; Gadd, Cynthia S.

    2009-01-01

    Introduction: Evaluations of computerized clinical decision support systems (CDSS) typically focus on clinical performance changes and do not include social, organizational, and contextual characteristics explaining use and effectiveness. Studies of CDSS for intensive insulin therapy (IIT) are no exception, and the literature lacks an understanding of effective computer-based IIT implementation and operation. Results: This paper presents (1) a literature review of computer-based IIT evaluations through the lens of institutional theory, a discipline from sociology and organization studies, to demonstrate the inconsistent reporting of workflow and care process execution and (2) a single-site case study to illustrate how computer-based IIT requires substantial organizational change and creates additional complexity with unintended consequences including error. Discussion: Computer-based IIT requires organizational commitment and attention to site-specific technology, workflow, and care processes to achieve intensive insulin therapy goals. The complex interaction between clinicians, blood glucose testing devices, and CDSS may contribute to workflow inefficiency and error. Evaluations rarely focus on the perspective of nurses, the primary users of computer-based IIT whose knowledge can potentially lead to process and care improvements. Conclusion: This paper addresses a gap in the literature concerning the social, organizational, and contextual characteristics of CDSS in general and for intensive insulin therapy specifically. Additionally, this paper identifies areas for future research to define optimal computer-based IIT process execution: the frequency and effect of manual data entry error of blood glucose values, the frequency and effect of nurse overrides of CDSS insulin dosing recommendations, and comprehensive ethnographic study of CDSS for IIT. PMID:19815452

  19. Social, organizational, and contextual characteristics of clinical decision support systems for intensive insulin therapy: a literature review and case study.

    Science.gov (United States)

    Campion, Thomas R; Waitman, Lemuel R; May, Addison K; Ozdas, Asli; Lorenzi, Nancy M; Gadd, Cynthia S

    2010-01-01

    Evaluations of computerized clinical decision support systems (CDSS) typically focus on clinical performance changes and do not include social, organizational, and contextual characteristics explaining use and effectiveness. Studies of CDSS for intensive insulin therapy (IIT) are no exception, and the literature lacks an understanding of effective computer-based IIT implementation and operation. This paper presents (1) a literature review of computer-based IIT evaluations through the lens of institutional theory, a discipline from sociology and organization studies, to demonstrate the inconsistent reporting of workflow and care process execution and (2) a single-site case study to illustrate how computer-based IIT requires substantial organizational change and creates additional complexity with unintended consequences including error. Computer-based IIT requires organizational commitment and attention to site-specific technology, workflow, and care processes to achieve intensive insulin therapy goals. The complex interaction between clinicians, blood glucose testing devices, and CDSS may contribute to workflow inefficiency and error. Evaluations rarely focus on the perspective of nurses, the primary users of computer-based IIT whose knowledge can potentially lead to process and care improvements. This paper addresses a gap in the literature concerning the social, organizational, and contextual characteristics of CDSS in general and for intensive insulin therapy specifically. Additionally, this paper identifies areas for future research to define optimal computer-based IIT process execution: the frequency and effect of manual data entry error of blood glucose values, the frequency and effect of nurse overrides of CDSS insulin dosing recommendations, and comprehensive ethnographic study of CDSS for IIT. Copyright (c) 2009. Published by Elsevier Ireland Ltd.

  20. Intractable occipital lobe epilepsy: clinical characteristics, surgical treatment, and a systematic review of the literature.

    Science.gov (United States)

    Yang, Peng-Fan; Jia, Yan-Zeng; Lin, Qiao; Mei, Zhen; Chen, Zi-Qian; Zheng, Zhi-Yong; Zhang, Hui-Jian; Pei, Jia-Sheng; Tian, Jun; Zhong, Zhong-Hui

    2015-01-01

    We reported our experience in the surgical treatment of a relatively large cohort of patients with occipital lobe epilepsy (OLE). We also carried out a systematic review of the literature on OLE. Thirty-five consecutive patients who underwent occipital resection for epilepsy were included. Diagnoses were made following presurgical evaluations, including magnetic resonance imaging (MRI), fluorodeoxyglucose-positron emission tomography (FDG-PET), scalp video-electroencephalogram (EEG) monitoring, and intracranial EEG monitoring. At last follow-up, seizure outcome was classified using the Engel classification scheme. Twenty-five of 35 patients experienced/had experienced ≥1 type of aura before the seizure. Invasive recordings were used to define the epileptogenic area in 30 of 35 patients (85.7 %). All patients underwent occipital lesionectomies or topectomies. Histopathology revealed: cortical dysplasias, gliosis, dysembryoplastic neuroepithelial tumor, ganglioglioma, and tuberous sclerosis. After a mean follow-up of 44 months, 25 patients (71.4 %) were seizure free (Engel class I), 3 (8.6 %) rarely had seizures (Engel class II), 5 (14.3 %) improved more than 75 % (Engel class III), and 2 (5.7 %) had no significant improvement (Engel class IV). Preoperatively, 12 of 33 patients (36.4 %) had visual field deficits. Postoperatively, 25 patients (75.8 %) had new or aggravated visual field deficits. The management of OLE has been aided greatly by the availability of high-resolution diagnosis. Postoperative visual field deficits occur in a significant proportion of patients. Comprehensive intracranial EEG coverage of all occipital surfaces helps to define the epileptogenic area and preserve visual function, especially in cases of focal cortical dysplasia undetectable by MRI.

  1. Primary tuberculous gingival enlargement - A rare clinical entity: Case report and brief review of the literature

    Directory of Open Access Journals (Sweden)

    Suhail Majid Jan

    2014-01-01

    Full Text Available Tuberculosis (TB is a chronic specific granulomatous disease and a major cause of death in developing countries. The clinical presentation of TB lesions of the oral cavity varies widely and can manifest as ulcerations, diffuse inflammatory lesions, granulomas and fissures. Oral lesions generally appear secondary to primary TB infection elsewhere, although primary infection of the oral mucosa by Mycobacterium tuberculosis has also been described. We hereby report a case of primary TB of the gingiva manifesting as gingival enlargement. Diagnosis was based on histopathological examination, complete blood count, X-ray chest and immunological investigations with detection of antibodies against M. tuberculosis. Anti-tuberculous therapy was carried out for over 6 months and was followed by surgical excision of the residual enlargement under local anesthesia. After 1-year follow-up, there was no recurrence of the disease. This case report emphasizes the need for dentists to include TB in the differential diagnosis of various types of gingival enlargements.

  2. Appendicitis-like clinical image elicited by Enterobius vermicularis: case report and review of the literature.

    Science.gov (United States)

    Vleeschouwers, W; Hofman, Ph; Gillardin, J P; Meert, V; Van Slycke, S

    2013-01-01

    A 17-year-old female patient presented with the clinical features of an acute appendicitis. During laparoscopic exploration a macroscopically normal appendix was found. Since there were no intra-abdominal abnormalities found, the appendix was resected. Anatomopathology demonstrated Enterobius vermicularis, a pinworm infecting only humans, and mostly living in the caecum. This parasite is responsible for possibly the most common helminthic infection in the developed world. Its role in the pathogenesis of acute appendicitis is controversial, but more recent studies indicate a stronger association between enterobiasis and appendicitis. Often, enterobius mimics appendicitis by obstructing the lumen of the appendix, thereby causing appendiceal colic. This case report stresses the importance of microscopic examination of all appendectomy resection specimens. In case of enterobius infestation, systemic therapy of patient and family is necessary.

  3. Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.

    Science.gov (United States)

    Horesh, Nir; Pery, Ron; Amiel, Imri; Shwaartz, Chaya; Speter, Chen; Guranda, Larisa; Gutman, Mordechai; Hoffman, Aviad

    2015-11-01

    Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgit