Sample records for syndrome clinical implication

  1. Polycystic ovary syndrome: clinical implication in perimenopause

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    Monika Lenart-Lipińska


    Full Text Available Polycystic ovary syndrome (PCOS, a hyperandrogenic disorder, is the commonest endocrinopathy in premenopausal women. This syndrome is associated with fertility problems, clinical manifestations of hyperandrogenism and metabolic disturbances, particularly insulin resistance and obesity. There is a great body of evidence that patients with PCOS present multiple cardiovascular risk factors and cluster components of metabolic syndrome from early ages. The presence of comorbidities such as abdominal obesity, insulin resistance, type 2 diabetes, hypertension places these females at an increased risk of future cardiovascular events. However, the extent to which PCOS components are present in perimenopausal women and the degree to which PCOS increases various risk factors in addition to the known risk of the perimenopausal period have not been fully determined. The perimenopausal period per se is associated with weight gain and an increased cardiovascular risk, which may be additionally aggravated by the presence of metabolic disturbances connected with PCOS. The phenotype of PCOS may improve with aging and it is still uncertain whether the presence of PCOS significantly increases the cardiovascular risk later in women’s life. Most recent data suggest that the prevalence of cardiovascular diseases and the related long-term consequences in females with PCOS seem to be lower than expected. This manuscript reviews long-term consequences of PCOS and considers their clinical implications in perimenopause.

  2. Clinical implications of de Barsy syndrome. (United States)

    Warner, Lindsay L; Olsen, David A; Smith, Hugh M


    De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome. A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures. We collected and analyzed the perioperative records and following data: age, sex, American Society of Anesthesiologists physical status, relevant comorbidities, surgical procedures, anesthesia management, and observed complications. Three patients underwent 64 unique anesthetics for a diverse collection of diagnostic and surgical procedures. An array of anesthetics and techniques were successfully used. Observations of the perioperative period found 7 episodes of intraoperative hyperthermia (>38.3°), a single difficult airway requiring fiberoptic bronchoscopic-guided intubation, and repeatedly difficult intravenous access. This expanded case series suggests that providers caring for patients with de Barsy syndrome should be aware of potential challenges with airway management, vascular access, and temperature monitoring. © 2017 John Wiley & Sons Ltd.

  3. Clinical and biological implications of driver mutations in myelodysplastic syndromes. (United States)

    Papaemmanuil, Elli; Gerstung, Moritz; Malcovati, Luca; Tauro, Sudhir; Gundem, Gunes; Van Loo, Peter; Yoon, Chris J; Ellis, Peter; Wedge, David C; Pellagatti, Andrea; Shlien, Adam; Groves, Michael John; Forbes, Simon A; Raine, Keiran; Hinton, Jon; Mudie, Laura J; McLaren, Stuart; Hardy, Claire; Latimer, Calli; Della Porta, Matteo G; O'Meara, Sarah; Ambaglio, Ilaria; Galli, Anna; Butler, Adam P; Walldin, Gunilla; Teague, Jon W; Quek, Lynn; Sternberg, Alex; Gambacorti-Passerini, Carlo; Cross, Nicholas C P; Green, Anthony R; Boultwood, Jacqueline; Vyas, Paresh; Hellstrom-Lindberg, Eva; Bowen, David; Cazzola, Mario; Stratton, Michael R; Campbell, Peter J


    Myelodysplastic syndromes (MDS) are a heterogeneous group of chronic hematological malignancies characterized by dysplasia, ineffective hematopoiesis and a variable risk of progression to acute myeloid leukemia. Sequencing of MDS genomes has identified mutations in genes implicated in RNA splicing, DNA modification, chromatin regulation, and cell signaling. We sequenced 111 genes across 738 patients with MDS or closely related neoplasms (including chronic myelomonocytic leukemia and MDS-myeloproliferative neoplasms) to explore the role of acquired mutations in MDS biology and clinical phenotype. Seventy-eight percent of patients had 1 or more oncogenic mutations. We identify complex patterns of pairwise association between genes, indicative of epistatic interactions involving components of the spliceosome machinery and epigenetic modifiers. Coupled with inferences on subclonal mutations, these data suggest a hypothesis of genetic "predestination," in which early driver mutations, typically affecting genes involved in RNA splicing, dictate future trajectories of disease evolution with distinct clinical phenotypes. Driver mutations had equivalent prognostic significance, whether clonal or subclonal, and leukemia-free survival deteriorated steadily as numbers of driver mutations increased. Thus, analysis of oncogenic mutations in large, well-characterized cohorts of patients illustrates the interconnections between the cancer genome and disease biology, with considerable potential for clinical application.

  4. Smith-Magenis Syndrome: Genetic Basis and Clinical Implications (United States)

    Finucane, Brenda; Haas-Givler, Barbara


    Smith-Magenis syndrome (SMS) is a neurobehavioral disorder associated with deletions and mutations of the "RAI1" gene on chromosome 17p11.2. Clinical features of the syndrome include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Although the functional…

  5. Clinical implications of duplicated mtDNA in Pearson syndrome. (United States)

    Muraki, K; Sakura, N; Ueda, H; Kihara, H; Goto, Y


    We report on a seven-year-old Japanese boy with Pearson syndrome, which is characterized by refractory sideroblastic anemia with vacuolization of marrow precursors and dysfunction of the exocrine pancreas, and caused by mitochondrial (mt) DNA deletions and duplications. Although analysis with Southern hybridization on his bone marrow cells at age one year or on the muscle at age five years did not detect any duplications of mtDNA, an analysis after death at age seven years detected them in the kidney, heart, and even in the bone marrow. Using long PCR to specifically amplify duplicated mtDNA, we found duplications in all biopsy and postmortem samples, indicating that duplications had been present in the patient since his early life, and that the number of duplications increased with age. The results indicate some dynamism in the mtDNA duplication and that the dynamism may imply clinical importance.

  6. Normal-weight obesity syndrome: diagnosis, prevalence, and clinical implications. (United States)

    Franco, Lana P; Morais, Carla C; Cominetti, Cristiane


    The growing concern about the impact of overweight on health has led to studies that shed light on types of obesity other than the classic model based on body mass index. Normal-weight obesity syndrome is characterized by excess body fat in individuals with adequate body mass index (18.5-24.9 kg/m(2)). This condition increases the risk of cardiovascular morbidity and mortality and other conditions associated with chronic diseases, such as insulin resistance, hypertension, and dyslipidemia. The aims of this review are to define the diagnostic criteria for normal-weight obesity syndrome and to examine the risks associated with this condition in order to promote preventive measures and early treatment for affected individuals. © The Author(s) 2016. Published by Oxford University Press on behalf of the International Life Sciences Institute. All rights reserved. For Permissions, please e-mail:

  7. [Adipocytokines and metabolic syndrome--molecular mechanism and clinical implication]. (United States)

    Matsuda, Morihiro; Shimomura, Iichiro


    Recent progress in adipocyte-biology shows that adipocytes are not merely fat-storing cells but that they secrete a variety of hormones, cytekines, growth factors and other bioactive substabces, conceptualized as adipocytokines. These include plasminogen activator inhibitor 1(PAI-1), tumor necrosis factor(TNF-alpha), leptin and adiponectin. Dysregulated productions of these adipocytekines participate in the pathogenesis of obesity-associated metabolic syndrome such as insulin resistance, type 2 diabetes, hyperlipidemia, and vascular diseases. Increased productions of PAI-1 and TNF-alpha from accumulated fat contribute to the formation of thrombosis and insulin resistance in obesity, respectively. Lack of leptin causes metabolic syndrome. Adiponectin exerts insulin-sensitizing and anti-atherogenic effects, hence decrease of plasma adiponectin is causative for insulin resistance and atherosclerosis in obesity.

  8. Mesenchymal Stem Cells and Metabolic Syndrome: Current Understanding and Potential Clinical Implications

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    Kenichi Matsushita


    Full Text Available Metabolic syndrome is an obesity-based, complicated clinical condition that has become a global epidemic problem with a high associated risk for cardiovascular disease and mortality. Dyslipidemia, hypertension, and diabetes or glucose dysmetabolism are the major factors constituting metabolic syndrome, and these factors are interrelated and share underlying pathophysiological mechanisms. Severe obesity predisposes individuals to metabolic syndrome, and recent data suggest that mesenchymal stem cells (MSCs contribute significantly to adipocyte generation by increasing the number of adipocytes. Accordingly, an increasing number of studies have examined the potential roles of MSCs in managing obesity and metabolic syndrome. However, despite the growing bank of experimental and clinical data, the efficacy and the safety of MSCs in the clinical setting are still to be optimized. It is thus hoped that ongoing and future studies can elucidate the roles of MSCs in metabolic syndrome and lead to MSC-based therapeutic options for affected patients. This review discusses current understanding of the relationship between MSCs and metabolic syndrome and its potential implications for patient management.

  9. [Network clusters of symptoms as elementary syndromes of psychopathology: implications for clinical practice]. (United States)

    Goekoop, R; Goekoop, J G


    In a recent publication we reported the existence of around 11 (to 15) 'elementary syndromes' that may combine in various ways, rather like 'building blocks', to explain the wide range of psychiatric symptoms. 'Bridge symptoms' seem to be responsible both for combining large sets of symptoms into elementary syndromes and for combining the various elementary syndromes to form one globally connected network structure. To discuss the implication of these findings for clinical practice. We performed a network analysis of symptom scores. Elementary syndromes provide a massive simplification of the description of psychiatric disease. Instead of the more than 300 categories in DSM-5, we now need to consider only a handful of elementary syndromes and personality domains. This modular representation of psychiatric illnesses allows us to make a complete, systematic and efficient assessment of patients and a systematic review of treatment options. Clinicians, patients, managerial staff and insurance companies can verify whether symptom reduction is taking place in the most important domains of psychopathology. Unlike classic multidimensional methods of disease description, network models of psychopathology can be used to explain comorbidity patterns, predict the clinical course of psychopathology and to designate primary targets for therapeutic interventions. A network view on psychopathology could significantly improve everyday clinical practice.

  10. Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications. (United States)

    Singh, Michael N; Lacro, Ronald V


    Marfan syndrome is a genetic disorder of connective tissue with principal manifestations in the cardiovascular, ocular, and skeletal systems. Cardiovascular disease, mainly progressive aortic root dilation and aortic dissection, is the leading cause of morbidity and mortality. The primary aims of this report were to examine the evidence related to medical therapy for Marfan syndrome, including recently completed randomized clinical trials on the efficacy of β-blockers and angiotensin II receptor blockers for the prophylactic treatment of aortic enlargement in Marfan syndrome, and to provide recommendations for medical therapy on the basis of available evidence. Medical therapy for Marfan syndrome should be individualized according to patient tolerance and risk factors such as age, aortic size, and family history of aortic dissection. The Pediatric Heart Network trial showed that atenolol and losartan each reduced the rate of aortic dilation. All patients with known or suspected Marfan syndrome and aortic root dilation should receive medical therapy with adequate doses of either β-blocker or angiotensin receptor blocker. The Pediatric Heart Network trial also showed that atenolol and losartan are more effective at reduction of aortic root z score in younger subjects, which suggests that medical therapy should be prescribed even in the youngest children with aortic dilation. For patients with Marfan syndrome without aortic dilation, the available evidence is less clear. If aortic dilation is severe and/or progressive, therapy with a combination of β-blocker and angiotensin receptor blocker should be considered, although trial results are mixed with respect to the efficacy of combination therapy vs monotherapy. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  11. Clinical picture and treatment implication in a child with Capgras syndrome: a case report. (United States)

    Mazzone, Luigi; Armando, Marco; De Crescenzo, Franco; Demaria, Francesco; Valeri, Giovanni; Vicari, Stefano


    Capgras syndrome is a delusional misidentification syndrome characterized by the patient's belief that his or her relatives have been replaced by impostors. Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome.

  12. Developmental Coordination Disorder and Joint Hypermobility Syndrome--overlapping disorders? Implications for research and clinical practice. (United States)

    Kirby, A; Davies, R


    Joint Hypermobility Syndrome (JHS) and Developmental Coordination Disorder (DCD) are two childhood disorders usually identified separately. DCD is a heterogeneous condition with little known of the underlying aetiology of the disorder. This paper examines the potential overlap between DCD and JHS and examines children with DCD for symptoms which may be consistent with a diagnosis of JHS. Implications for research and clinical practice are considered. A questionnaire covering a range of symptoms consistent with a diagnosis of JHS and related autonomic nervous systemic symptoms was completed by parents from 27 children with DCD and compared with responses from parents of 27 typically developing children. Children with DCD showed a significant difference from the group of typically developing children on questions regarding hypermobility, pain and autonomic nervous system symptoms, typifying JHS. This study has shown a similarity in symptoms seen in some DCD children to those with a diagnosis of JHS. In addition, children are also presenting with multi-system symptomatology including those involving the autonomic nervous system. This study reinforces other recent work showing the reverse pattern of JHS children showing similar functional similarities to DCD children. This has implications for future research in DCD in order to understand the underlying aetiology of this complex disorder. In addition, it is important for clinicians to be aware of these findings in order to provide appropriate and tailored support and treatment for children presenting with differing patterns of co-ordination difficulties. Children with DCD and JHS may require appropriate podiatry as well as recognition of their symptoms of pain and how this may affect participation in physical activity.

  13. Adiposity measurements in association with metabolic syndrome in older men have different clinical implications. (United States)

    Hsu, Chun-Hsien; Lin, Jiunn-Diann; Hsieh, Chang-Hsun; Lau, Shu Chuen; Chiang, Wei-Yong; Chen, Yen-Lin; Pei, Dee; Chang, Jin-Biou


    Obesity is a major public health problem, and measuring adiposity accurately and predicting its future comorbidities are important issues. Therefore, we hypothesized that 4 adiposity measurements, body mass index (BMI), waist circumference (WC), waist-to-height ratio, and body fat percentage, have different physiological meanings and distinct associations with adverse health consequences. This study aimed to investigate the relationship of these 4 measurements with metabolic syndrome (MetS) components and identify the most associated factor for MetS occurrence in older, non-medicated men. Cross-sectional data from 3004 men, all 65 years of age and older, were analyzed. The correlation and association between adiposity measurements and MetS components were evaluated by Pearson correlation and multiple linear regression. Based on multivariate logistic regression, BMI and WC were significantly associated with MetS and were selected to build a combined model of receiver operating characteristic curves to increase the diagnosis accuracy for MetS. The results show that BMI is independently associated with systolic and diastolic blood pressure; WC and body fat percentage are associated with fasting plasma glucose and log transformation of triglyceride; BMI and WC are negatively associated with high-density lipoprotein cholesterol (HDL-C); and WC is a better discriminate for MetS than BMI, although the combined model (WC + BMI) is not significantly better than WC alone. Based on these results, we conclude that the 4 adiposity measurements have different clinical implications. Thus, in older men, BMI is an important determinant for blood pressure and HDL-C. Waist circumference is associated with the risk of fasting plasma glucose, HDL-C, triglyceride, and MetS occurrence. The combined model did not increase the diagnosis accuracy. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Clinical Implications of Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA Syndrome in the Prepubertal Age Group.

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    Jang Hee Han

    Full Text Available Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA syndrome is a rare syndrome characterized by Müllerian duct and renal anomalies. It is usually regarded as a disease of adolescence; however, due to a number of possible problems, the management of patients before puberty should not be overlooked. We assessed the clinical course of prepubertal patients to propose appropriate management.We retrospectively assessed 43 prepubertal OHVIRA syndrome patients who were diagnosed and followed up at our institution from July 2004 to June 2015. We reviewed medical records, focusing on presentation, radiologic findings, surgical management, and the overall clinical course.Median age at diagnosis was 1.3 months and median follow-up period was 25.5 months. The most common accompanying ipsilateral urologic anomalies were ectopic ureter and ureterocele, while the most common contralateral anomaly was vesicoureteral reflux. During the follow-up period, six patients (14.0% required surgery at a median age of 31.2 months due to recurrent urinary tract infection, uncontrolled vaginal distention compressing adjacent organs, urinary incontinence, or intractable abdominal pain.While OHVIRA syndrome is known as a postpubertal disease, about 13% of prepubertal patients in our study required surgery. When ectopic ureter insertion into the vagina is present, further treatment may be needed to address the complications caused by continuous urine production. Patients should be monitored for complications arising from either obstructed hemivagina or renal anomalies with regular follow-up, especially before the age of five years.

  15. Polyposis syndromes: pediatric implications. (United States)

    Hyer, W


    The diagnosis of a polyposis syndrome, such as juvenile polyposis, Peutz-Jeghers syndrome, and familial adenomatous polyposis, requires knowledge of the site, number, and histologic type of the polyps and an appreciation of relevant family history. Children and adolescents with polyposis syndromes are faced with not only the immediate complications of the polyps, such as intussusception or bleeding, but also the extraintestinal manifestations and the long-term risk for malignancy. This article reviews the diagnosis, clinical management, surveillance, and surgical options for children with polyposis syndromes and discusses genetics and appropriate screening programs.

  16. Updates on breast cancer genetics: Clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer. (United States)

    Cobain, Erin F; Milliron, Kara J; Merajver, Sofia D


    Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered that also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established. In addition, the testing of more genes has led to increased detection of variants of uncertain significance. We review the current knowledge regarding both high- and moderate-risk hereditary breast cancer syndromes, as well as additional genes implicated in hereditary breast cancer for which there is limited data. Furthermore, strategies for cancer risk reduction in mutation carriers as well as therapeutic implications for those patients who harbor pathogenic germline alterations are discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Obstetrical Antiphospholipid Syndrome: From the Pathogenesis to the Clinical and Therapeutic Implications (United States)

    Marchetti, T.; Cohen, M.; de Moerloose, P.


    Antiphospholipid syndrome (APS) is an acquired thrombophilia with clinical manifestations associated with the presence of antiphospholipid antibodies (aPL) in patient plasma. Obstetrical APS is a complex entity that may affect both mother and fetus throughout the entire pregnancy with high morbidity. Clinical complications are as various as recurrent fetal losses, stillbirth, intrauterine growth restriction (IUGR), and preeclampsia. Pathogenesis of aPL targets trophoblastic cells directly, mainly via proapoptotic, proinflammatory mechanisms, and uncontrolled immunomodulatory responses. Actual first-line treatment is limited to low-dose aspirin (LDA) and low-molecular weight heparin (LMWH) and still failed in 30% of the cases. APS pregnancies should be a major field in obstetrical research, and new therapeutics are still in progress. PMID:23983765

  18. Down syndrome birth weight in England and Wales: Implications for clinical practice. (United States)

    Morris, Joan K; Cole, Tim J; Springett, Anna L; Dennis, Jennifer


    The aim of this study was to determine if syndrome-specific birth weight charts were beneficial for babies with Down syndrome in England and Wales. Birth weights of 8,825 babies with Down syndrome born in England and Wales in 1989-2010 were obtained from the National Down Syndrome Cytogenetic Register. Birth weight centiles for 30-42 weeks gestation by sex were fitted using the LMS method and were compared to those for unaffected babies from the UK-WHO growth charts. For babies born with Down syndrome the median birth weight from 37 to 42 weeks was 2,970 g (10th-90th centile: 2,115-3,680) for boys and 2930 g (2,100-3,629) for girls, and the modal age of gestation was 38 weeks, 2 weeks earlier than for unaffected babies. At 38 weeks gestation they were only slightly lighter than unaffected babies (159 g for boys and 86 g for girls). However at 40 weeks gestation the shortfall was much greater (304 g and 239 g, respectively). In neonates with Down syndrome there is little evidence of growth restriction before 38 weeks gestation, so up to this age it is appropriate to use the UK-WHO birth weight charts. Thereafter birth weight is below that of unaffected babies and it should be plotted on the UK Down syndrome growth charts. © 2015 Wiley Periodicals, Inc.

  19. The concept of incomplete fibromyalgia syndrome: comparison of incomplete fibromyalgia syndrome with fibromyalgia syndrome by 1990 ACR classification criteria and its implications for newer criteria and clinical practice. (United States)

    Yunus, Muhammad B; Aldag, Jean C


    The 1990 American College of Rheumatology (ACR) classification criteria for fibromyalgia/fibromyalgia syndrome (FMS) has 2 components: (a) widespread pain (WSP) and (b) presence of 11 or more tender points (TP) among possible 18 sites. Some clinic patients fulfill 1 component but not the other. We have considered these patients to have incomplete FMS (IFMS). The purpose of this study was to examine the clinical and psychological differences between IFMS and FMS (by 1990 ACR criteria) because such comparison may be helpful to diagnose patients in the clinic. Six hundred consecutive patients referred to our rheumatology clinic with a diagnosis of FMS were examined by a standard protocol to determine whether they fulfilled the 1990 criteria for FMS. Both IFMS and FMS groups were compared in demographic, clinical, and psychological variables using appropriate statistical methods. One hundred twelve (18.7%) patients did not satisfy the 1990 ACR criteria and were classified as IFMS. Symptoms in IFMS and FMS were similar, generally with less frequent and less severe symptoms in the IFMS group. In IFMS, no significant difference was found among the WSP and TP component subgroups. Both TP and WSP were correlated with important features of FMS. Fulfillment of the ACR 1990 criteria is not necessary for a diagnosis of FMS in the clinic. For diagnosis and management of FMS in the clinical setting, IFMS patients, along with consideration of the total clinical picture, may be considered to have FMS, albeit generally mild.

  20. Abnormal perfusion on myocardial perfusion SPECT in patients with WPW syndrome: clinical implications

    International Nuclear Information System (INIS)

    Kang, Do Young; Cha, Kwang Soo; Kim, Moo Hyun; Kim, Young Dae; Kim, Duk Kyu


    Myocardial perfusion is altered significantly in patients with rhythm disturbances such as CLBBB and right ventricular pacing rhythm. Abnormal myocardial perfusion may be caused by ventricular preexcitation, but its location, extent, severity and correlation with accessory pathway (AP) are not established. We evaluated perfusion patterns on SPECT in patients with WPW syndrome. Adenosine Tc-99m MIBI or Tl-201 myocardial SPECT with or without coronary angiography were performed in 11 patients with WPW syndrome. Perfusion defects (PD) were compared to AP location based on ECG or electrophysiologic study. Small to large extent (11.0 8.5%, range: 0 35%) and mild to moderate severity (-71.8 42.7%, range: -217 0%) of reversible (n=9) or fixed (n=1) perfusion defects were noted. One patient with right free wall AP showed normal. Other defect locations were as follows. Myocardial perfusion defect showed variable extent, severity and location in patients with WPW syndrome. It was not specifically correlated with location of accessory pathway, but most of all patients were abnormal perfusion pattern. Therefore myocardial perfusion SPECT was interpreted carefully in patients with WPW syndrome

  1. Identifying metabolic syndrome in a clinical cohort: Implications for prevention of chronic disease

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    Allison Martin


    The utility of the harmonised equation in the clinical setting was confirmed in this overweight clinical cohort. Those classified as having MetS were more likely to be older, overweight/obese individuals and they had a substantially higher risk of developing CVD and insulin resistance than those without MetS.

  2. Clinical implications of underactive bladder

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    Kwang Jin Ko


    Full Text Available Underactive bladder (UAB is a common urologic condition but a complex disease that causes troublesome lower urinary tract symptoms. Currently, management of UAB remains unsatisfactory. Also, many urological diseases can be combined with UAB. In these combined cases, the treatment results may be affected by UAB component. This review focuses on the clinical implications of UAB in patients with common urologic conditions, including bladder outlet obstruction, overactive bladder syndrome and stress urinary incontinence.

  3. Horner syndrome: clinical perspectives (United States)

    Kanagalingam, Sivashakthi; Miller, Neil R


    Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

  4. Tourette Syndrome: Classroom Implications (United States)

    Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.


    Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

  5. Regulation of peripheral blood flow in Complex Regional Pain Syndrome: clinical implication for symptomatic relief and pain management

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    Coderre Terence J


    Full Text Available Abstract Background During the chronic stage of Complex Regional Pain Syndrome (CRPS, impaired microcirculation is related to increased vasoconstriction, tissue hypoxia, and metabolic tissue acidosis in the affected limb. Several mechanisms may be responsible for the ischemia and pain in chronic cold CPRS. Discussion The diminished blood flow may be caused by either sympathetic dysfunction, hypersensitivity to circulating catecholamines, or endothelial dysfunction. The pain may be of neuropathic, inflammatory, nociceptive, or functional nature, or of mixed origin. Summary The origin of the pain should be the basis of the symptomatic therapy. Since the difference in temperature between both hands fluctuates over time in cold CRPS, when in doubt, the clinician should prioritize the patient's report of a persistent cold extremity over clinical tests that show no difference. Future research should focus on developing easily applied methods for clinical use to differentiate between central and peripheral blood flow regulation disorders in individual patients.

  6. Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.

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    L Simo-Riudalbas

    Full Text Available Immunodeficiency, centromeric instability and facial anomalies syndrome (ICF is a rare autosomal recessive disease, characterized by severe hypomethylation in pericentromeric regions of chromosomes (1, 16 and 9, marked immunodeficiency and facial anomalies. The majority of ICF patients present mutations in the DNMT3B gene, affecting the DNA methyltransferase activity of the protein. In the present study, we have used the Infinium 450K DNA methylation array to evaluate the methylation level of 450,000 CpGs in lymphoblastoid cell lines and untrasformed fibroblasts derived from ICF patients and healthy donors. Our results demonstrate that ICF-specific DNMT3B variants A603T/STP807ins and V699G/R54X cause global DNA hypomethylation compared to wild-type protein. We identified 181 novel differentially methylated positions (DMPs including subtelomeric and intrachromosomic regions, outside the classical ICF-related pericentromeric hypomethylated positions. Interestingly, these sites were mainly located in intergenic regions and inside the CpG islands. Among the identified hypomethylated CpG-island associated genes, we confirmed the overexpression of three selected genes, BOLL, SYCP2 and NCRNA00221, in ICF compared to healthy controls, which are supposed to be expressed in germ line and silenced in somatic tissues.In conclusion, this study contributes in clarifying the direct relationship between DNA methylation defect and gene expression impairment in ICF syndrome, identifying novel direct target genes of DNMT3B. A high percentage of the DMPs are located in the subtelomeric regions, indicating a specific role of DNMT3B in methylating these chromosomal sites. Therefore, we provide further evidence that hypomethylation in specific non-pericentromeric regions of chromosomes might be involved in the molecular pathogenesis of ICF syndrome. The detection of DNA hypomethylation at BOLL, SYCP2 and NCRNA00221 may pave the way for the development of specific

  7. Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome. (United States)

    Simo-Riudalbas, L; Diaz-Lagares, A; Gatto, S; Gagliardi, M; Crujeiras, A B; Matarazzo, M R; Esteller, M; Sandoval, J


    Immunodeficiency, centromeric instability and facial anomalies syndrome (ICF) is a rare autosomal recessive disease, characterized by severe hypomethylation in pericentromeric regions of chromosomes (1, 16 and 9), marked immunodeficiency and facial anomalies. The majority of ICF patients present mutations in the DNMT3B gene, affecting the DNA methyltransferase activity of the protein. In the present study, we have used the Infinium 450K DNA methylation array to evaluate the methylation level of 450,000 CpGs in lymphoblastoid cell lines and untrasformed fibroblasts derived from ICF patients and healthy donors. Our results demonstrate that ICF-specific DNMT3B variants A603T/STP807ins and V699G/R54X cause global DNA hypomethylation compared to wild-type protein. We identified 181 novel differentially methylated positions (DMPs) including subtelomeric and intrachromosomic regions, outside the classical ICF-related pericentromeric hypomethylated positions. Interestingly, these sites were mainly located in intergenic regions and inside the CpG islands. Among the identified hypomethylated CpG-island associated genes, we confirmed the overexpression of three selected genes, BOLL, SYCP2 and NCRNA00221, in ICF compared to healthy controls, which are supposed to be expressed in germ line and silenced in somatic tissues. In conclusion, this study contributes in clarifying the direct relationship between DNA methylation defect and gene expression impairment in ICF syndrome, identifying novel direct target genes of DNMT3B. A high percentage of the DMPs are located in the subtelomeric regions, indicating a specific role of DNMT3B in methylating these chromosomal sites. Therefore, we provide further evidence that hypomethylation in specific non-pericentromeric regions of chromosomes might be involved in the molecular pathogenesis of ICF syndrome. The detection of DNA hypomethylation at BOLL, SYCP2 and NCRNA00221 may pave the way for the development of specific clinical biomarkers

  8. Raltegravir-induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome - implications for clinical practice and patient safety. (United States)

    Perry, Melissa E O; Almaani, Noor; Desai, Nemesha; Larbalestier, Nick; Fox, Julie; Chilton, Daniella


    This case report describes two severe antiretroviral drug adverse reactions that occurred in the same patient. A 55-year-old HIV-positive African woman received a single epidural triamcinolone injection for pain relief of postherpetic neuralgia. Forty-one days later, she developed severe iatrogenic Cushing's syndrome due to the drug-drug interaction between triamcinolone and her boosted protease inhibitor therapy. The patient's antiretroviral regimen was thus changed to replace her protease inhibitor with the integrase inhibitor raltegravir. Shortly after commencing the drug, the patient developed a severe adverse drug reaction manifesting as Drug Reaction (or Rash) with Eosinophilia and Systemic Symptoms (DRESS) syndrome. First described in 1996, this hypersensitivity syndrome presents with severe skin reaction as well as fever, rash, lymphadenopathy and internal organ involvement with marked eosinophilia. Clinicians should be aware of raltegravir-induced DRESS syndrome as well as the potential for drug-drug interactions due to protease inhibitor-based therapy.

  9. Clinical implications of the detection of antibodies directed against domain 1 of β2-glycoprotein 1 in thrombotic antiphospholipid syndrome. (United States)

    Montalvão, Silmara; Elídio, Priscila Soares; da Silva Saraiva, Sabrina; de Moraes Mazetto, Bruna; Colella, Marina Pereira; de Paula, Erich Vinícius; Appenzeller, Simone; Annichino-Bizzacchi, Joyce; Orsi, Fernanda Andrade


    Antibodies directed against domain 1 of β2 glycoprotein 1 (aβ2GP1-Dm1) have been involved in the immunopathogenesis of antiphospholipid syndrome (APS). However, the clinical relevance of aβ2GP1-Dm1 in thrombotic APS has not yet been fully explored. To determine the frequency of aβ2GP1-Dm1 in a cohort of patients with thrombotic APS, and to evaluate whether testing for aβ2GP1-Dm1 could have a clinical impact upon the risk assessment of the disease. Patients were tested for aβ2GP1-Dm1 antibodies by chemiluminescence (BioFlash/AcuStar®, ES). The presence of aβ2GP1-Dm1 was evaluated in different clinical presentations of the disease. Eight-four patients with a history of venous or arterial thrombosis were included. Forty-five (54%) patients had aβ2GP1 antibodies and 40% of them were positive for aβ2GP1-Dm1. Levels of aβ2GP1-Dm1 were higher in patients with systemic autoimmune disease (AUC=0.665; 95% CI=0.544-0.786; P=0.01), positive antinuclear antibody (AUC=0.654; 95% CI=0.535-0.772; P=0.01), triple antiphospholipid antibody (aPL) positivity (AUC=0.680; 95% CI=0.534-0.825; P=0.02) and positive lupus anticoagulant (AUC=0.639; 95% CI=0.502-0.776; P=0.07). In this cohort, aβ2GP1-Dm1 antibodies were not associated with the site of the first thrombosis (OR=0,62, 95% CI=0.20-1.94, P=0.42), thrombosis recurrence (OR=1.0, 95% CI=0.37-2.71, P=1.0) or pregnancy morbidity (OR=1.5, 95% CI=0.33-7.34, P=0.58). In multivariate analysis, positivity for aβ2GP1-Dm1 antibodies was associated with the diagnosis of systemic autoimmune disease (OR=4.01, 95% CI=1.14-14.2; P=0.03) and triple aPL positivity (OR=3.59, 95% CI=0.87-14.85; P=0.07). In the present cohort of thrombotic-APS patients, aβ2GP1-Dm1 antibodies were related to the diagnosis of systemic autoimmunity and complex serological profile of the disease, as triple aPL positivity and positive antinuclear antibody. Thus, our results suggest that testing for aβ2GP1-Dm1 antibodies may be useful for improving APS risk

  10. Glycemic variability: Clinical implications

    Directory of Open Access Journals (Sweden)

    Surabhi Venkata Satya Krishna


    Full Text Available Glycemic control and its benefits in preventing microvascular diabetic complications are convincingly proved by various prospective trials. Diabetes control and complications trial (DCCT had reported variable glycated hemoglobin (HbA1C as a cause of increased microvascular complications in conventional glycemic control group versus intensive one. However, in spite of several indirect evidences, its link with cardiovascular events or macrovascular complications is still not proved. Glycemic variability (GV is one more tool to explain relation between hyperglycemia and increased cardiovascular risk in diabetic patients. In fact GV along with fasting blood sugar, postprandial blood sugar, HbA1C, and quality of life has been proposed to form glycemic pentad, which needs to be considered in diabetes management. Postprandial spikes in blood glucose as well as hypoglycemic events, both are blamed for increased cardiovascular events in Type 2 diabetics. GV includes both these events and hence minimizing GV can prevent future cardiovascular events. Modern diabetes management modalities including improved sulfonylureas, glucagon like peptide-1 (GLP-1-based therapy, newer basal insulins, and modern insulin pumps address the issue of GV effectively. This article highlights mechanism, clinical implications, and measures to control GV in clinical practice.

  11. Dependence on carbonated water: Clinical and policy implications

    Directory of Open Access Journals (Sweden)

    Sumit Kumar Gupta


    Full Text Available A case of caffeine dependence syndrome with preference for a specific brand of carbonated water (popularly known as soft drinks or colas is discussed to highlight the clinical and policy implications.

  12. Clinical update on metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Juan Diego Hernández-Camacho


    Full Text Available Metabolic syndrome has been defined as a global issue since it affects a lot of people. Numerous factors are involved in metabolic syndrome development. It has been described that metabolic syndrome has negative consequences on health. Consequently, a lot of treatments have been proposed to palliate it such as drugs, surgery or life style changes where nutritional habits have shown to be an important point in its management. The current study reviews the literature existing about the actual epidemiology of metabolic syndrome, the components involucrate in its appearance and progression, the clinical consequences of metabolic syndrome and the nutritional strategies reported in its remission. A bibliographic search in PubMed and Medline was performed to identify eligible studies. Authors obtained that metabolic syndrome is present in population from developed and undeveloped areas in a huge scale. Environmental and genetic elements are involucrate in metabolic syndrome development. Metabolic syndrome exponentially increased risk of cardiovascular disease, some types of cancers, diabetes mellitus type 2, sleep disturbances, etc. Nutritional treatments play a crucial role in metabolic syndrome prevention, treatment and recovery.

  13. Marfan Syndrome: A Clinical Update. (United States)

    Bitterman, Adam D; Sponseller, Paul D


    Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

  14. Energy Metabolism Profile in Individuals with Prader-Willi Syndrome and Implications for Clinical Management: A Systematic Review. (United States)

    Alsaif, Maha; Elliot, Sarah A; MacKenzie, Michelle L; Prado, Carla M; Field, Catherine J; Haqq, Andrea M


    Prader-Willi syndrome (PWS) is a rare genetic disorder associated with excessive weight gain. Hyperphagia associated with PWS may result in higher energy intake, but alterations in energy expenditure may also contribute to energy imbalance. The purpose of this critical literature review is to determine the presence of alterations in energy expenditure in individuals with PWS. Ten studies that measured total energy expenditure (TEE), resting energy expenditure (REE), sleep energy expenditure (SEE), activity energy expenditure (AEE), and diet induced thermogenesis (DIT) were included in this review. The studies provided evidence that absolute TEE, REE, SEE, and AEE are lower in individuals with PWS than in age-, sex-, and body mass index-matched individuals without the syndrome. Alterations in lean body mass and lower physical activity amounts appear to be responsible for the lower energy expenditure in PWS rather than metabolic differences. Regardless of the underlying mechanism for lower TEE, the estimation of energy requirements with the use of equations derived for the general population would result in weight gain in individuals with PWS. The determination of energy requirements for weight management in individuals with PWS requires a more comprehensive understanding of energy metabolism. Future studies should aim to comprehensively profile all specific components of energy expenditure in individuals with PWS with the use of appropriately matched controls and gold standard methods to measure energy metabolism and body composition. One component of energy expenditure that is yet to be explored in detail in PWS is DIT. A reduced DIT (despite differences in fat free mass), secondary to hormonal dysregulation, may be present in PWS individuals, leading to a reduced overall energy expenditure. Further research exploring DIT in PWS needs to be conducted. Dietary energy recommendations for weight management in PWS have not yet been clearly established. © 2017 American

  15. Clinical characteristics of men with non-mosaic Klinefelter syndrome in northeastern China: implications for genetic counseling. (United States)

    Zhang, M; Fan, H-T; Zheng, H-S; Zhang, Q-S; Feng, S-Q; Li, R-W


    Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm retrieval and intracytoplasmic sperm injection (ICSI), some areas of early aggressive hormonal spermatogenesis and appropriate management of KS remain controversial. Androgenotherapy, a common treatment for KS, carries a risk of decreasing focal spermatogenesis by lowering the gonadotropin content. Inadequately treated hypogonadism increases psychosocial morbidity in KS patients. Preventive care must be provided from the time of diagnosis, preferentially through a multidisciplinary approach. This indicates the need for improved genetic counseling of KS patients. The aim of this study was to report the prevalence of non-mosaic KS in a Chinese infertile male population. The rate of early diagnosis was lower in KS patients; most of these were diagnosed after rising concerns of reproductive capacity. The mean age of patients with sperm or germ cells was significantly lower, while the semen volume of these patients was significantly higher. However, the semen volume was negatively correlated with the age and ratio of luteinizing hormone/testosterone content in KS patients. Therefore, genetic counseling of KS patients should focus on early diagnosis and timely treatment, in addition to improving the quality of life of all KS patients. The use of testosterone replacement therapy and/ or micro-dissection testicular sperm extraction should be preferentially considered for fertility preservation.

  16. Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children. (United States)

    Valenzise, Mariella; Aversa, Tommaso; Salzano, Giuseppina; Zirilli, Giuseppina; De Luca, Filippo; Su, Maureen


    Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. It is characterized by the association of multiple autoimmune diseases, with a classical triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years with the apparence of new entities. One of these novel manifestations is the chronic inflammatory demyelinating polineuropathy (CIDP), that is characterized by involvement of peripheral nervous system, with nerve demyelination, progressive muscular weakness of both arms and legs and sensory loss. The identification of myelin protein zero as an important autoantigen (Ag) in CIDP may suggest the development of Ag-based therapies, such as Ag-specific DNA vaccination or infusion of Ag-coupled cells.

  17. Clinical biomarkers in metabolic syndrome. (United States)

    Barazzoni, Rocco; Silva, Veronica; Singer, Pierre


    A biomarker can be defined as a measurable variable that may be used as an indicator of a given biological state or condition. Biomarkers have been used in health and disease for diagnostic purposes, as tools to assess effectiveness of nutritional or drug intervention, or as risk markers to predict the development of certain diseases. In nutrition studies, selecting appropriate biomarkers is important to assess compliance, or incidence of a particular dietary component in the biochemistry of the organism, and in the diagnosis and prognosis of nutrition-related diseases. Metabolic syndrome is a cluster of cardiovascular risk factors that occur simultaneously in the same individual, and it is associated with systemic alterations that may involve several organs and tissues. Given its close association with obesity and the increasing prevalence of obesity worldwide, identifying obese individuals at risk for metabolic syndrome is a major clinical priority. Biomarkers for metabolic syndrome are therefore potential important tools to maximize the effectiveness of treatment in subjects who would likely benefit the most. Choice of biomarkers may be challenging due to the complexity of the syndrome, and this article will mainly focus on nutrition biomarkers related to the diagnosis and prognosis of the metabolic syndrome.

  18. [Diagnosis and Clinical Examination of Autoinflammatory Syndrome]. (United States)

    Ida, Hiroaki


    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β (IL-1β) and IL-18 muturation. Especially, NLRP3 inflammasomes may play a crucial role in the intiation and progression of FMF and CAPS. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the diagnosis and clinical examination of these syndromes.

  19. MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders

    Directory of Open Access Journals (Sweden)

    Cox Timothy C


    Full Text Available Abstract Background Patients with Opitz GBBB syndrome present with a variable array of developmental defects including craniofacial, cardiac, and genital anomalies. Mutations in the X-linked MID1 gene, which encodes a microtubule-binding protein, have been found in ~50% of Opitz GBBB syndrome patients consistent with the genetically heterogeneous nature of the disorder. A protein highly related to MID1, called MID2, has also been described that similarly associates with microtubules. Results To identify protein partners of MID1 and MID2 we undertook two separate yeast two-hybrid screens. Using this system we identified Alpha 4, a regulatory subunit of PP2-type phosphatases and a key component of the rapamycin-sensitive signaling pathway, as a strong interactor of both proteins. Analysis of domain-specific deletions has shown that the B-boxes of both MID1 and MID2 mediate the interaction with Alpha 4, the first demonstration in an RBCC protein of a specific role for the B-box region. In addition, we show that the MID1/2 coiled-coil motifs mediate both homo- and hetero-dimerisation, and that dimerisation is a prerequisite for association of the MID-Alpha 4 complex with microtubules. Conclusions Our findings not only implicate Alpha 4 in the pathogenesis of Opitz GBBB syndrome but also support our earlier hypothesis that MID2 is a modifier of the X-linked phenotype. Of further note is the observation that Alpha 4 maps to Xq13 within the region showing linkage to FG (Opitz-Kaveggia syndrome. Overlap in the clinical features of FG and Opitz GBBB syndromes warrants investigation of Alpha 4 as a candidate for causing FG syndrome.

  20. Research findings with clinical implications. (United States)

    Bjugn, Roger


    Medical and health research may yield findings that are of direct clinical significance for project participants. The Council of Europe has stated that information on such findings shall be offered to participants, and that applications to research ethics committees shall include plans for managing such findings. The purpose of the study was to investigate how the management of such findings had been described in research projects that had been granted prior approval by a regional committee for medical and health research ethics (REK). Research projects that were associated with Oslo University Hospital and had a start-up date in 2011 were identified in the database of the regional ethics committee. Copies of the application form submitted to the committee, project protocols, participant information/consent forms and letters of approval were reviewed with regard to information on the management of findings with possible clinical implications. Of the 87 projects found in the database, 70 were included in the study. Of these, 57 studies involved direct interaction with humans, whereof 45 with intended use of biological material. In 21 studies, the management of findings with possible clinical implications was described in one or more documents. In all of these projects, the applicant him-/herself had referred to this topic in the initial application. The absence of written information on the management of research findings with possible clinical implications is not in conformity with the recommendations issued by the Council of Europe. By introducing a separate item for this in the form to be submitted to the regional ethics committee for application of prior approval, this issue could be made subject to better assessment.

  1. Clinical course of Tourette syndrome. (United States)

    Bloch, Michael H; Leckman, James F


    Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder characterized by multiple motor and vocal tics lasting at least a year in duration. Children with TS often experience comorbid conditions such as obsessive-compulsive disorder (OCD) and attention-deficit disorder. The goal of this article was to review the long-term clinical course of tics and comorbid conditions in children with TS. We conducted a traditional literature search to locate relevant articles regarding long-term outcome and prognosis in TS and tic disorders. Tics typically have an onset between the ages of 4 and 6 years and reach their worst-ever severity between the ages of 10 and 12 years. On average, tic severity declines during adolescence. By early adulthood, roughly three-quarters of children with TS will have greatly diminished tic symptoms and over one-third will be tic free. Comorbid conditions, such as OCD and other anxiety and depressive disorders, are more common during the adolescence and early adulthood of individuals with TS than in the general population. Although tics are the sine qua non of TS, they are often not the most enduring or impairing symptoms in children with TS. Measures used to enhance self-esteem, such as encouraging strong friendships and the exploration of interests, are crucial to ensuring positive adulthood outcome in TS.

  2. Fear of movement and avoidance behaviour toward physical activity in chronic-fatigue syndrome and fibromyalgia: state of the art and implications for clinical practice. (United States)

    Nijs, Jo; Roussel, Nathalie; Van Oosterwijck, Jessica; De Kooning, Margot; Ickmans, Kelly; Struyf, Filip; Meeus, Mira; Lundberg, Mari


    Severe exacerbation of symptoms following physical activity is characteristic for chronic-fatigue syndrome (CFS) and fibromyalgia (FM). These exacerbations make it understandable for people with CFS and FM to develop fear of performing body movement or physical activity and consequently avoidance behaviour toward physical activity. The aims of this article were to review what measures are available for measuring fear of movement and avoidance behaviour, the prevalence fear of movement and avoidance behaviour toward physical activity and the therapeutic options with fear of movement and avoidance behaviour toward physical activity in patients with CFS and FM. The review revealed that fear of movement and avoidance behaviour toward physical activity is highly prevalent in both the CFS and FM population, and it is related to various clinical characteristics of CFS and FM, including symptom severity and self-reported quality of life and disability. It appears to be crucial for treatment (success) to identify CFS and FM patients displaying fear of movement and avoidance behaviour toward physical activity. Individually tailored cognitive behavioural therapy plus exercise training, depending on the patient's classification as avoiding or persisting, appears to be the most promising strategy for treating fear of movement and avoidance behaviour toward physical activity in patients with CFS and FM.

  3. Obstetric professionals' perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications. (United States)

    Ngan, Olivia Miu Yung; Yi, Huso; Wong, Samuel Yeung Shan; Sahota, Daljit; Ahmed, Shenaz


    While non-invasive prenatal testing (NIPT) for fetal aneuploidy is commercially available in many countries, little is known about how obstetric professionals in non-Western populations perceive the clinical usefulness of NIPT in comparison with existing first-trimester combined screening (FTS) for Down syndrome (DS) or invasive prenatal diagnosis (IPD), or perceptions of their ethical concerns arising from the use of NIPT. A cross-sectional survey among 327 obstetric professionals (237 midwives, 90 obstetricians) in Hong Kong. Compared to FTS, NIPT was believed to: provide more psychological benefits and enable earlier consideration of termination of pregnancy. Compared to IPD, NIPT was believed to: provide less psychological stress for high-risk women and more psychological assurance for low-risk women, and offer an advantage to detect chromosomal abnormalities earlier. Significant differences in perceived clinical usefulness were found by profession and healthcare sector: (1) obstetricians reported more certain views towards the usefulness of NIPT than midwives and (2) professionals in the public sector perceived less usefulness of NIPT than the private sector. Beliefs about earlier detection of DS using NIPT were associated with ethical concerns about increasing abortion. Participants believing that NIPT provided psychological assurance among low-risk women were less likely to be concerned about ethical issues relating to informed decision-making and pre-test consultation for NIPT. Our findings suggest the need for political debate initially on how to ensure pregnant women accessing public services are informed about commercially available more advanced technology, but also on the potential implementation of NIPT within public services to improve access and equity to DS screening services.

  4. Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. (United States)

    Schlump, Jan-Ulrich; Stein, Anja; Hehr, Ute; Karen, Tanja; Möller-Hartmann, Claudia; Elcioglu, Nursel H; Bogdanova, Nadja; Woike, Hartmut Fritz; Lohmann, Dietmar R; Felderhoff-Mueser, Ursula; Linz, Annette; Wieczorek, Dagmar


    Treacher Collins syndrome (TCS) is the most common and well-known mandibulofacial dysostosis caused by mutations in at least three genes involved in pre-rRNA transcription, the TCOF1, POLR1D and POLR1C genes. We present a severely affected male individual with TCS with a heterozygous de novo frameshift mutation within the TCOF1 gene (c.790_791delAG,p.Ser264GlnfsX7) and compare the clinical findings with three previously unpublished, milder affected individuals from two families with the same mutation. We elucidate typical clinical features of TCS and its clinical implications for the paediatrician and mandibulofacial surgeon, especially in severely affected individuals and give a short review of the literature. The clinical data of these three families illustrate that the phenotype associated with this specific mutation has a wide intra- and interfamilial variability, which confirms that variable expressivity in carriers of TCOF1 mutations is not a simple consequence of the mutation but might be modified by the combination of genetic, environmental and stochastic factors. Being such a highly complex disease treatment of individuals with TCS should be tailored to the specific needs of each individual, preferably by a multidisciplinary team consisting of paediatricians, craniofacial surgeons and geneticists.

  5. Venous chest anatomy: clinical implications

    International Nuclear Information System (INIS)

    Chasen, M.H.; Charnsangavej, C.


    This article provides a practical approach to the clinical implications and importance of understanding the collateral venous anatomy of the thorax. Routine radiography, conventional venography, computed tomography (CT), and magnetic resonance (MR) imaging studies provide correlative anatomic models for the demonstration of how interconnecting collateral vascular networks within the thorax maintain venous stability at all times. Five major systems comprise the collateral venous network of the thorax ( Fig. 1 ). These include the paravertebral, azygos-hemiazygos, internal mammary, lateral thoracic, and anterior jugular venous systems (AJVS). The five systems are presented in the following sequence: (a) a brief introduction to the importance of catheter position and malposition in understanding access to the thoracic venous system, (b) the anatomy of the azygos-hemiazygos systems and their relationship with the paravertebral plexus, (c) the importance of the AJVS, (d) 'loop' concepts interconnecting the internal mammary and azygos-hemiazygos systems by means of the lateral thoracic and intercostal veins, and (e) the interconnecting venous networks on the thoracic side of the thoracoabdominal junction. Certain aspects of the venous anatomy of the thorax will not be discussed in this chapter and include (a) the intra-abdominal anastomoses between the superior and inferior vena cavae (IVC) via the internal mammary, lateral thoracic, and azygos-hemiazygos systems (beyond the scope of this article), (b) potential collateral vessels involving vertebral, parascapular, thyroidal, thymic, and other smaller veins that might anastomose with the major systems, and (c) anatomic variants and pitfalls that may mimic pathologic conditions (space limitations). (Copyright (c) 1998 Elsevier Science B.V., Amsterdam. All rights reserved.)


    Graff-Radford, Jonathan; Whitwell, Jennifer L.; Geda, Yonas E.; Josephs, Keith A.


    Background Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified by using the Electronic Medical Record system of Mayo Clinic. Results The average age at onset of Othello's syndrome was 68 (25–94) years with 61.9% of patients being male. Othello's syndrome was most commonly associated with a neurological disorder (73/105) compared with psychiatric disorders (32/105). Of the patients with a neurological disorder, 76.7% had a neurodegenerative disorder. Seven of eight patients with a structural lesion associated with Othello's syndrome had right frontal lobe pathology. Voxel-based morphometry showed greater grey matter loss predominantly in the dorsolateral frontal lobes in the neurodegenerative patients with Othello's compared to matched patients with neurodegenerative disorders without Othello's syndrome. Treatment success was notable for patients with dopamine agonist induced Othello's syndrome in which all six patients had improvement in symptoms following decrease in medication. Conclusions This study demonstrates that Othello's syndrome occurs most frequently with neurological disorders. This delusion appears to be associated with dysfunction of the frontal lobes, especially right frontal lobe. PMID:21518145

  7. Antiphospholipid Syndrome Clinical Research Task Force Report

    NARCIS (Netherlands)

    Erkan, D.; Derksen, R.; Levy, R.; Machin, S.; Ortel, T.; Pierangeli, S.; Roubey, R.; Lockshin, M.

    The Antiphospholipid Syndrome (APS) Clinical Research Task Force (CRTF) was one of six Task Forces developed by the 13(th) International Congress on Antiphospholipid Antibodies (aPL) organization committee with the purpose of: a) evaluating the limitations of APS clinical research and developing

  8. Molecular and Clinical Aspects of Angelman Syndrome (United States)

    Dagli, A.; Buiting, K.; Williams, C.A.


    The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other conditions involving severe developmental handicap. Accurate diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the critical 15q11.2–q13 genomic region identifies 75–80% of all individuals with the syndrome, including those with cytogenetic deletions, imprinting center defects and paternal uniparental disomy. In the remaining group, UBE3A sequence analysis identifies an additional percentage of patients, but 5–10% will remain who appear to have the major clinical phenotypic features but do not have any identifiable genetic abnormalities. Genetic counseling for recurrence risk is complicated because multiple genetic mechanisms can disrupt the UBE3A gene, and there is also a unique inheritance pattern associated with UBE3A imprinting. Angelman syndrome is a prototypical developmental syndrome due to its remarkable behavioral phenotype and because UBE3A is so crucial to normal synaptic function and neural plasticity. PMID:22670133

  9. The pathophysiology of the trigeminal autonomic cephalalgias, with clinical implications

    DEFF Research Database (Denmark)

    Barloese, Mads C J


    , it is obvious that this brainstem reflex is regulated by higher centers that seemingly play a pivotal role in the attacks and the wide range of other symptoms indicating a homeostatic disturbance. These symptoms, as well as a number of well-validated findings, implicate the hypothalamus in the pathophysiology....... over the course of the past 2-3 decades, novel therapies and technological advances have helped increase our knowledge of these clinical syndromes, and will likely continue to do so in the coming years as we witness the arrival of new drugs and neurostimulation options. In this review, the clinical...

  10. Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications

    Energy Technology Data Exchange (ETDEWEB)

    Leana-Cox, J. (Univ. of Maryland School of Medicine, Baltimore, MD (United States)); Jenkins, L. (Kaiser Permanente Medical Group, San Jose, CA (United States)); Palmer, C.G.; Plattner, R. (Indiana School of Medicine, Indianapolis, IN (United States)); Sheppard, L. (Palo Verde Laboratory, Inc., Chandler, AZ (United States)); Flejter, W.L. (Univ. of Michigan, Ann Arbor, MI (United States)); Zackowski, J. (Univ. of Florida Health Science Center, Gainsville, FL (United States)); Tsien, F. (Tulane Univ. School of Medicine, New Orleans, LA (United States)); Schwartz, S. (Case Western Reserve Univ., Cleveland, OH (United States))


    Twenty-seven cases of inverted duplications of chromosome 15 (inv dup[15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P<.01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype. 30 refs., 1 fig., 4 tabs.

  11. Antiphospholipid syndrome; its implication in cardiovascular diseases: a review

    Directory of Open Access Journals (Sweden)

    Goudevenos John


    Full Text Available Abstract Antiphospholipid syndrome (APLS is a rare syndrome mainly characterized by several hyper-coagulable complications and therefore, implicated in the operated cardiac surgery patient. APLS comprises clinical features such as arterial or venous thromboses, valve disease, coronary artery disease, intracardiac thrombus formation, pulmonary hypertension and dilated cardiomyopathy. The most commonly affected valve is the mitral, followed by the aortic and tricuspid valve. For APLS diagnosis essential is the detection of so-called antiphospholipid antibodies (aPL as anticardiolipin antibodies (aCL or lupus anticoagulant (LA. Minor alterations in the anticoagulation, infection, and surgical stress may trigger widespread thrombosis. The incidence of thrombosis is highest during the following perioperative periods: preoperatively during the withdrawal of warfarin, postoperatively during the period of hypercoagulability despite warfarin or heparin therapy, or postoperatively before adequate anticoagulation achievement. Cardiac valvular pathology includes irregular thickening of the valve leaflets due to deposition of immune complexes that may lead to vegetations and valve dysfunction; a significant risk factor for stroke. Patients with APLS are at increased risk for thrombosis and adequate anticoagulation is of vital importance during cardiopulmonary bypass (CPB. A successful outcome requires multidisciplinary management in order to prevent thrombotic or bleeding complications and to manage perioperative anticoagulation. More work and reporting on anticoagulation management and adjuvant therapy in patients with APLS during extracorporeal circulation are necessary.

  12. Marfan Syndrome: Clinical, Surgical, and Anesthetic Considerations. (United States)

    Castellano, José M; Silvay, George; Castillo, Javier G


    Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular, and skeletal systems. This autosomal heritable disease is mainly attributable to a defect in the FBN1 gene. Clinical diagnosis of Marfan syndrome has been based on the Ghent criteria since 1996. In 2010, these criteria were updated, and the revised guidelines place more emphasis on aortic root dilation, ectopia lentis, and FBN1 mutation testing in the diagnostic assessment of Marfan syndrome. Among its many different clinical manifestations, cardiovascular involvement deserves special consideration, owing to its impact on prognosis. Recent molecular, surgical, and clinical research has yielded profound new insights into the pathological mechanisms that ultimately lead to tissue degradation and weakening of the aortic wall, which has led to exciting new treatment strategies. Furthermore, with the increasing life expectancy of patients with Marfan syndrome, there has been a subtle shift in the spectrum of medical problems. Consequently, this article focuses on recent advances to highlight their potential impact on future concepts of patient care from a clinical, surgical, and anesthetic perspective. © The Author(s) 2013.

  13. Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects

    Directory of Open Access Journals (Sweden)

    Baccalaro Gabriele


    Full Text Available Abstract Background Being severely overweight is a distinctive clinical feature of Prader-Willi Syndrome (PWS. PWS is a complex multisystem disorder, representing the most common form of genetic obesity. The aim of this study was the analysis of the gait pattern of adult subjects with PWS by using three-Dimensional Gait Analysis. The results were compared with those obtained in a group of obese patients and in a group of healthy subjects. Methods Cross-sectional, comparative study: 19 patients with PWS (11 males and 8 females, age: 18–40 years, BMI: 29.3–50.3 kg/m2; 14 obese matched patients (5 males and 9 females, age: 18–40 years, BMI: 34.3–45.2 kg/m2; 20 healthy subjects (10 males and 10 females, age: 21–41 years, BMI: 19.3–25.4 kg/m2. Kinematic and kinetic parameters during walking were assessed by an optoelectronic system and two force platforms. Results PWS adult patients walked slower, had a shorter stride length, a lower cadence and a longer stance phase compared with both matched obese, and healthy subjects. Obese matched patients showed spatio-temporal parameters significantly different from healthy subjects. Furthermore, Range Of Motion (ROM at knee and ankle, and plantaflexor activity of PWS patients were significantly different between obese and healthy subjects. Obese subjects revealed kinematic and kinetic data similar to healthy subjects. Conclusion PWS subjects had a gait pattern significantly different from obese patients. Despite that, both groups had a similar BMI. We suggest that PWS gait abnormalities may be related to abnormalities in the development of motor skills in childhood, due to precocious obesity. A tailored rehabilitation program in early childhood of PWS patients could prevent gait pattern changes.

  14. Night eating syndrome: implications for severe obesity. (United States)

    Cleator, J; Abbott, J; Judd, P; Sutton, C; Wilding, J P H


    Night eating syndrome (NES) was first identified in 1955 by Stunkard, a psychiatrist specialising in eating disorders (ED). Over the last 20 years considerable progress has been made in defining NES as a significant clinical entity in its own right and it has now been accepted for inclusion in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) due for publication in 2013. NES is considered a dysfunction of circadian rhythm with a disassociation between eating and sleeping. Core criteria include a daily pattern of eating with a significantly increased intake in the evening and/or night time, as manifested by one or both of the following: at least 25% of food intake is consumed after the evening meal or at least two episodes of nocturnal eating per week. An important recent addition to core criteria includes the presence of significant distress and/or impairment in functioning. Stunkard's team recommend further investigation on the pathogenesis of NES, in particular its relationship with traumatic life events, psychiatric comorbidity, the age of onset of NES and course of NES over time. The relationship between NES and other ED also requires further clarification as night-eaters exhibit some features of other ED; previous guidance to separate NES from other ED may have hindered earlier characterisation of NES. Evidence from European and American studies suggests NES features strongly in populations with severe obesity. The complex interplay between depression, impaired sleep and obesity-related comorbidity in severely obese individuals makes understanding NES in this context even more difficult. This review examines evidence to date on the characterisation of NES and concludes by examining the applicability of current NES criteria to individuals with severe obesity.

  15. Clinical Manifestations of the Opiate Withdrawal Syndrome

    Directory of Open Access Journals (Sweden)

    Faniya Shigakova


    Full Text Available Currently, substance abuse is one of the most serious problems facing our society. The aim of this study was to investigate the clinical manifestations of the opiate withdrawal syndrome (OWS. The study included 112 patients (57 women and 55 men aged from 18 to 64 years with opium addiction according to the DSM-IV. To study the clinical manifestation of OWS, the special 25-score scale with four sections to assess severity of sleep disorders, pain syndrome, autonomic disorders, and affective symptoms was used. Given the diversity of the OWS symptoms, attention was focused on three clinical variants, affective, algic and mixed. The OWS affective variant was registered more frequently in women, while the mixed type of OWS was more typical of men.

  16. Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Pörksen, Sven; Mackay, Deborah Jg


    We present the first clinical report of sibs with the multiple maternal hypomethylation syndrome. Both sisters presented with transient neonatal diabetes mellitus (TNDM). By methylation-specific PCR of bisulphite-treated DNA, we found a mosaic spectrum of hypomethylation at the following maternal...... imprinting. The recurrence with affected sibs as reported in this family has implications for genetic counselling....... manifestations of both TNDM and BWS in common. The family is highly consanguineous, and the parents are first cousins. We suggest that the genetic defect in this family is a novel, most likely autosomal recessive defect of methylation mechanisms, either in the sisters or in their mother, affecting her oocyte...

  17. Women's Health Implications of Polycystic Ovary Syndrome

    NARCIS (Netherlands)

    Veltman-Verhulst, S.M.


    Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder of unknown etiology which affects approximately 12% of women. Principal features of PCOS are anovulation resulting in irregular or absent menstruation, excessive androgens (male sex hormones) and ovaries with multiple follicles

  18. Vascular vertigo: epidemiology and clinical syndromes. (United States)

    Karatas, Mehmet


    vertigo is a common complaint in medicine. The most common causes of vertigo are benign paroxysmal positional vertigo, vestibular neuritis, Meniere's syndrome, and vascular disorders. Vertigo of vascular origin is usually limited to migraine, transient ischemic attacks, and ischemic or hemorrhagic stroke. Vascular causes lead to various central or peripheral vestibular syndromes with vertigo. This study provides an overview of epidemiology and clinical syndromes of vascular vertigo. vertigo is an illusion of movement caused by asymmetrical involvement of the vestibular system by various causes. Migraine is the most frequent vascular disorder that causes vertigo in all age groups. Vertigo may occur in up to 25% of patients with migraine. The lifetime prevalence of migrainous vertigo is almost 1%. Cerebrovascular disorders are estimated to account for 3% to 7% of patients with vertigo. Vestibular paroxysmia has been diagnosed in 1.8% to 4% of cases in various dizziness units. Vasculitic disorders are rare in the general population, but vertigo may be seen in almost up to 50% of patients with different vasculitic syndromes. migraine, cerebrovascular disorders especially involving the vertebrobasilar territory, cardiocirculatory diseases, neurovascular compression of the eighth nerve, and vasculitis are vascular causes of vertigo syndromes.

  19. Stendhal syndrome: a clinical and historical overview. (United States)

    Palacios-Sánchez, Leonardo; Botero-Meneses, Juan Sebastián; Pachón, Rocío Plazas; Hernández, Laura Bibiana Pineros; Triana-Melo, Juanita Del Pilar; Ramírez-Rodríguez, Santiago


    It could be argued that one of the few unifying qualities all human beings share is the ability to appreciate beauty. While the object of beauty may change from one person to another, the awe and the thrill experienced by an enthralled beholder remains the same. Sometimes, this experience can be so overwhelming it can bring someone to the edge of existence. A very rare condition, known as aesthetic syndrome and, more commonly, Stendhal syndrome, entails a clinical phenomenon in which the presence of a beautiful piece of work or architecture causes dysautonomic symptoms such as tachycardia, diaphoresis, chest pains and loss of consciousness. We present an historical and clinical review of this condition.

  20. Clinical Implications Of Childhood Bilingualism | Southwood ...

    African Journals Online (AJOL)

    Stellenbosch Papers in Linguistics Plus. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 32 (2003) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Clinical Implications Of Childhood Bilingualism.

  1. Cugini's syndrome: its clinical history and diagnosis

    Directory of Open Access Journals (Sweden)

    Laura Gasbarrone


    Full Text Available INTRODUCTION: This article deals with the description and diagnosis of a new nosographic syndrome, which received the eponym of "Cugini's syndrome" by the name of the Author who discovered its clinical picture. This syndrome is characterized by the binomial: "minimal target organ damage associated to monitoring prehypertension". CLINICAL HISTORY AND DIAGNOSIS: Between the years 1997 and 2002, the Author published a series of investigations regarding some office normotensives who inexplicably showed incipient signs of target organ damage (TOD. Investigated via ambulatory (A blood (B pressure (P monitoring (M, these subjects were surprisingly found not to be hypertensive. Neverthless, the office normotensives with TOD exibited the daily mean level of their systolic (S and diastolic (D BP (DML SBP/DBP significantly more elevated as compared to true normotensives. Because of these ABPM findings, the Author realized that the investigated subjects were false normotensives whose TOD was associated with a monitoring prehypertension (ABPM-diagnosable prehypertension alias monitoring prehypertension alias masked prehypertension. The year after the last Cugini's investigation, the INC-7 Reports introduced the term: "prehypertension" in its classification of arterial hypertension, as an office sphygmomanometric condition in between office normotension and office hypertension. The ABPM cut-off upper limits for a differential diagnosis between monitoring normotension, prehypertension and hypertension are reported, as calculated by the Author in its collection of ABPMs. The eponym of "Cugini's syndrome" was assigned in 2007 and confirmed in 2009. CONCLUSIVE REMARKS: The monitoring prehypertension is a further condition of discrepancy between office sphygmomanometry and ABPM, as per a masked prehypertension, whose diagnosis has to be immediately diagnosed, for preventing the onset of a TOD. There are reported the present investigations dealing with the possible

  2. Tourette Syndrome: A Review and Educational Implications. (United States)

    Bauer, Anne M.; Shea, Thomas M.


    Tourette Syndrome, a condition characterized by involuntary muscular and verbal tics, is defined, its course described, incidence noted (possibly 1.6 percent of the population), etiology considered (from viewpoints of psychogenic and organic theories), treatment (primarily pharmaceutical therapy) discussed, and educational approaches examined.…

  3. Clinical spectrum of Treacher Collins syndrome. (United States)

    Mehrotra, Divya; Hasan, Mahdi; Pandey, Rahul; Kumar, Sumit


    Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an incidence of 1/50,000 live births, range between 1-40,000 and 1-70,000. We present here the various clinical, radiographical and other diagnostic findings of the TCS to correlate the clinical assessment with the diagnostic imaging and review the various investigations and management options being carried out to improve their facial deformity.

  4. [Richter syndrome: clinical characteristics and treatment experiences]. (United States)

    Li, Zeng-jun; Xu, Yan; Zhang, Pei-hong; Liu, Wei; Yi, Shu-hua; Zou, De-hui; Qi, Jun-yuan; Zhao, Yao-zhong; Qiu, Lu-gui


    To summarize the clinical characteristics of Richter syndrome and explore the methods of successful treatment and timely diagnosis. Five patients with Richter syndrome in the last three years (from January 2009 to December 2011) were analyzed retrospectively at our hospital, including their clinical features and therapy before and after transformation. There were 4 males and 1 female with a median age on a diagnosis of chronic lymphocytic leukemia (CLL) at 47 (44 - 68) years. The median duration from a diagnosis of CLL to transformation was 52 (5 - 90) months. As for cytogenetic abnormalities, 3/4 patients had 17p deletion by fluorescence in situ hybridization (FISH). The clinical manifestations on transformation included regional enlargement of lymph node (n = 2) and systemic enlargement of lymph nodes (n = 3). All diagnoses were confirmed by lymph node biopsy and all transformed into diffuse large B cell lymphoma (classical transformation). The subgroups were germinal center B-cell like (GCB) (n = 3) and non-GCB (n = 1). After transformation, one patient underwent sibling allo-stem cell transplantation and survived 24 months until April 2012. Another patient with auto-stem cell transplantation relapsed and died 12 months later. One patient lost the treatment opportunity due to worsening condition. Another 2 patients gained partial remission after therapy and survived 20 and 8 months respectively. Richter syndrome may occur during a late stage of CLL. Such a high-risk cytogenetic abnormality as del17p may be correlated with transformation. Early identification and optimal therapy may extend the survival of Richter syndrome. Allo-stem cell transplantation remains a curable option.

  5. Metabolic syndrome: definition and therapeutic implications. (United States)

    Prasad, Hari; Ryan, Debra A; Celzo, Ma Florence; Stapleton, Dwight


    The collection of impaired glucose metabolism, central obesity, elevated blood pressure, and dyslipidemia is identified as metabolic syndrome (MetS). It is estimated that approximately 25% of the world's population has MetS. In the United States, MetS is more common in men and Hispanics, and its incidence increases with age. Metabolic syndrome increases the risk of developing cardiovascular disease and type 2 diabetes mellitus. The underlying risk factors include insulin resistance and abdominal obesity. Confusion about MetS exists in part due to the lack of a consensus definition and treatment protocol. Treatment of MetS begins with therapeutic lifestyle changes and then pharmacologic treatment of the syndrome's individual components. Effective interventions include diet modification, exercise, and use of pharmacologic agents to treat risk factors. Weight loss and increasing physical activity significantly improve all aspects of MetS. A diet that includes more fruits, vegetables, whole grains, monounsaturated fats, and low-fat dairy products will benefit most patients with MetS. Physicians can be most effective in advising patients by customizing specific lifestyle recommendations after assessing patients for the presence of risk factors.

  6. Clinical and Biological Markers in Hypereosinophilic Syndromes

    Directory of Open Access Journals (Sweden)

    Paneez Khoury


    Full Text Available Hypereosinophilic syndromes (HES are rare, heterogeneous syndromes characterized by markedly elevated eosinophil counts in the blood and/or tissue and evidence of eosinophil-associated pathology. Although parasitic infections, drug hypersensitivity, and other disorders of defined etiology can present as HES (associated HES, treatment is directed at the underlying cause rather than the eosinophilia itself. A number of additional subtypes of HES have been described, based on clinical and laboratory features. These include (1 myeloid HES—a primary disorder of the myeloid lineage, (2 lymphocytic variant HES—eosinophilia driven by aberrant or clonal lymphocytes secreting eosinophil-promoting cytokines, (3 overlap HES—eosinophilia restricted to a single organ or organ system, (4 familial eosinophilia—a rare inherited form of HES, and (5 idiopathic HES. Since clinical manifestations, response to therapy, and prognosis all differ between HES subtypes, this review will focus on clinical and biological markers that serve as markers of disease activity in HES (excluding associated HES, including those that are likely to be useful only in specific clinical subtypes.

  7. Neurobiology of the premonitory urge in Tourette syndrome: Pathophysiology and treatment implications (United States)

    Cavanna, Andrea E.; Black, Kevin J; Hallett, Mark; Voon, Valerie


    Motor and vocal tics are relatively common motor manifestations identified as the core features of Tourette syndrome. Although traditional descriptions have focused on objective phenomenological observations, such as anatomical location, number and frequency of tics, patients’ first-person accounts have consistently reported characteristic subjective correlates. These sensory phenomena are often described as a feeling of mounting inner tension or urge to move (“premonitory urge”), which is transiently relieved by tic expression. This paper reviews the existing literature on the clinical and neurobiological aspects of the premonitory urge in patients with Tourette syndrome, with focus on its pathophysiology and possible treatment implications. PMID:28121259

  8. Clinical and epidemiologic characteristics of nodding syndrome in ...

    African Journals Online (AJOL)

    Background: Nodding syndrome (repetitive nodding and progressive generalized seizures) is assuming epidemic proportions in South Sudan, Tanzania and Uganda. Objective: To describe clinical and epidemiological features of nodding syndrome in southern Sudan based on preliminary investigations conducted in 2001 ...

  9. Clinical Features of Chinese of Chinese Patients with Fuchs' Syndrome

    NARCIS (Netherlands)

    Peizeng Yang,; Haoli Jin,; Bing Li,; Xuan Chen,; Kijlstra, A.


    Purpose: To characterize the clinical features of Chinese patients with Fuchs' syndrome. Design: Retrospective noncomparative case series. Participants: One hundred eighteen eyes of 104 consecutive patients with Fuchs' syndrome initially examined between January 1999 and March 2005. Methods: The

  10. Molecular heterogeneity in glioblastoma: potential clinical implications

    Directory of Open Access Journals (Sweden)

    Nicole Renee Parker


    Full Text Available Glioblastomas, (grade 4 astrocytomas, are aggressive primary brain tumors characterized by histopathological heterogeneity. High resolution sequencing technologies have shown that these tumors also feature significant inter-tumoral molecular heterogeneity. Molecular subtyping of these tumors has revealed several predictive and prognostic biomarkers. However, intra-tumoral heterogeneity may undermine the use of single biopsy analysis for determining tumor genotype and has implications for potential targeted therapies. The clinical relevance and theories of tumoral molecular heterogeneity in glioblastoma are discussed.

  11. [Clinical and electroencephalographic characteristics of Jeavons syndrome]. (United States)

    Yang, Zhi-xian; Liu, Xiao-yan; Qin, Jiong; Zhang, Yue-hua


    The study was designed to examine the clinical and electroencephalographic characteristics of children with Jeavons syndrome. Video-electroencephalography (VEEG) monitoring was carried out in 9 patients with Jeavons syndrome. The clinical and electroencephalographic characteristics, treatment and prognoses were analyzed. Of the 9 patients, 8 were female, and 1 was male. The onset age of children with eyelid myoclonia (EM) was from 3 to 9 years old. It was obtained through the chief complaint, prosecution or VEEG monitoring. Three cases were misdiagnosed and 2 cases were overlooked initially. Seven out of 9 patients had generalized tonic clonic seizures (GTCS) during the course of disease, of whom 5 experienced only one episode. GTCS was the cause for the first visits to hospital in 5 patients. Since the clinical manifestations of EM with or without absence were often slight, VEEG monitoring with eye closure and intermittent photic stimulation tests helped to induce discharges and seizures. Eye closure was more potent than intermittent photic stimulation as a triggering factor. Ictal EEG showed 3 - 6 Hz generalized spike and waves and polyspikes burst. The main treatment option was valproate monotherapy (6 cases) or combined with other antiepileptic drugs (1 case). Levetiracetam, lamotrigine and topiramate were also used in patients and effective to some degree. Two patients lost follow up. The age of 7 patients at follow-up ranged from 9 y to 15 y. Seizures were controlled in 1 case, suspiciously controlled in 1 case, decreased in frequency in 4 cases and were still frequent in 1 case. During follow-up, normal intelligence was found in the former 2 cases, difficult learning in 2 cases, and slightly intellectual impairment in 2 cases. Jeavons syndrome is one of the idiopathic generalized epilepsies characterized by EM with or without absence. The age of seizure onset might be difficult to be exactly established, as EM was often misinterpreted and overlooked

  12. Catastrophic antiphospholipid syndrome and pregnancy. Clinical report. (United States)

    Khizroeva, J; Bitsadze, V; Makatsariya, A


    We have observed the development of a catastrophic antiphospholipid syndrome (CAPS) in a pregnant woman hospitalized at 28 weeks of gestation with a severe preeclampsia. On the same day, an eclampsia attack developed, and an emergency surgical delivery was performed. On the third day, multiorgan failure developed. Examination showed a persistent circulation of lupus anticoagulant, high level of antibodies to cardiolipin, b2-glycoprotein I, and prothrombin. The usual diagnosis of the severe preeclampsia masked a catastrophic antiphospholipid syndrome, exacerbated by the coincident presence of several types of antiphospholipid antibodies. The first pregnancy resulted in a premature birth at 25 weeks, possibly also due to the circulation of antiphospholipid antibodies. The trigger of the catastrophic form development was the pregnancy itself, surgical intervention, and hyperhomocysteinemia. CAPS is the most severe form of antiphospholipid syndrome, manifested in multiple microthrombosis of microcirculation of vital organs and in the development of multiorgan failure against the background of the high level of antiphospholipid antibodies. CAPS is characterized by renal, cerebral, gastrointestinal, adrenal, ovarian, skin, and other forms of microthrombosis. Thrombosis recurrence is typical. Thrombotic microvasculopathy lies at the heart of multiorgan failure and manifests clinically in central nervous system lesions, adrenal insufficiency, and ARDS development. CAPS is a life-threatening condition, therefore, requires an urgent treatment. Optimal treatment of CAPS is not developed. CAPS represent a general medical multidisciplinary problem.

  13. Refeeding syndrome: clinical and nutritional relevance. (United States)

    Viana, Larissa de Andrade; Burgos, Maria Goretti Pessoa de Araújo; Silva, Rafaella de Andrade


    Feedback syndrome is characterized clinically by neurological alterations, respiratory symptoms, arrhythmias and heart failure few days after refeeding. It happens due to severe electrolyte changes, such as hypophosphatemia, hypomagnesemia and hypokalemia associated with metabolic abnormalities that may occur as a result of nutritional support (oral, enteral or parenteral) in severely malnourished patients. To evaluate its causes and the preventive dietary measures aiming to reduce the morbimortality. Was conducted literature review in SciELO, LILACS, Medline / PUBMED, Cochrane Library and government websites in Portuguese, English and Spanish. The survey was about the last 15 years, selecting the headings: refeeding syndrome, malnutrition, hypophosphatemia, hypokalemia, hypomagnesemia. The monitoring of metabolic parameters and electrolyte levels before starting nutritional support and periodically during feeding should be based on protocols and the duration of therapy. Patients at high risk and other metabolic complications should be followed closely, and depletion of minerals and electrolytes should be replaced before starting the diet. A multidisciplinary team of nutrition therapy can guide and educate other health professionals in prevention, diagnosis and treatment of the syndrome.

  14. Clinical features and pathophysiology of Complex Regional Pain Syndrome ? current state of the art


    Marinus, Johan; Moseley, G. Lorimer; Birklein, Frank; Baron, Ralf; Maih?fner, Christian; Kingery, Wade S.; van Hilten, Jacobus J.


    That a minor injury can trigger a complex regional pain syndrome (CRPS) - multiple system dysfunction, severe and often chronic pain and disability - has fascinated scientists and perplexed clinicians for decades. However, substantial advances across several medical disciplines have recently increased our understanding of CRPS. Compelling evidence implicates biological pathways that underlie aberrant inflammation, vasomotor dysfunction, and maladaptive neuroplasticity in the clinical features...

  15. Clinical implications of angiogenesis in cancers

    Directory of Open Access Journals (Sweden)

    Roberta WC Pang


    Full Text Available Roberta WC Pang1, Ronnie TP Poon2 Departments of 1Medicine and 2Surgery, The University of Hong Kong, Pokfulam, Hong Kong, ChinaAbstract: Angiogenesis plays an important role in the growth and progression of cancer. The regulation of tumor angiogenesis depends on a net balance of angiogenic factors and antiangiogenic factors, which are secreted by both tumor cells and host-infiltrating cells. Numerous studies have indicated that assessment of angiogenic activity by either microvessel density or expression of angiogenic factors in cancer can provide prognostic information independent of conventional clinicopathological factors such as tumor staging. Some studies also suggested that assessment of tumor angiogenesis may predict cancer response to chemotherapy or radiotherapy. However, the most important clinical implication of tumor angiogenesis is the development of a novel strategy of anticancer therapy targeting tumor vessels instead of cancer cells. Antiangiogenic therapy aims to inhibit the growth of tumor, and current evidence suggests that it works best in combination with conventional cytotoxic chemotherapy. Recently, a monoclonal antibody against vascular endothelial growth factor, which is one of the most potent angiogenic factors, has been approved for clinical use in colorectal cancer patients after a clinical trial confirmed that combining the antibody with standard chemotherapy regimen could prolong patient survival. The clinical implications of angiogenesis in cancer are reviewed in this article.Keywords: angiogenesis, antiangiogenic therapy, cancer, prognosis

  16. Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Mirinae [Dept. of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul (Korea, Republic of); Cho, Nariya; Moon, Hyeong Gon [Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of); Ahn, Hye Shin [Dept. of Radiology, Chung-Ang University Hospital, Seoul (Korea, Republic of)


    Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.

  17. [Cushing's syndrome: clinical study of fifteen cases]. (United States)

    Calvo Romero, J M; Morales Pérez, F; Alvarez Barreiro, J A; Diaz Pérez de Madrid, J


    To study the epidemiological and clinical features and diagnostic tests of Cushing's syndrome (CS) of non-iatrogenic etiology, because of there are few similar studies in the last ten years. Fifteen cases of CS were diagnosed from 1992 to 1997 at our hospital. We describe the epidemiological, clinical, biochemical, radiologic, therapeutic and evolutive characteristics. Both diabetes mellitus and hypertension were observed in 40% of patients. The frequency of etiologies was: Cushing's disease, 66.6%; ectopic ACTH syndrome, 13.3%; adrenal adenoma, 6.6%; adrenal carcinoma, 6.6%; and undiagnosed, 6.6%. The 24-hour urine free cortisol (UFC) and the overnight 1 mg oral dexamethasone suppression test yielded 93.3 and 100% diagnostic sensitivity for CS, respectively. The overnight 8 mg oral dexamethasone suppression test, the metyrapone test and the 7 mg intravenous dexmethasone test had 75, 50 and 60% diagnostic sensitivity for Cushing's disease, respectively. Ketoconazole treatment had success in to normalize the 24-hour UFC in all patients, except for the case of adrenal carcinoma. The Cushing's disease was the most common form of CS. The 24-hour UFC and overnight 1 mg oral dexamethasone suppression test were good screening studies. Ketoconazole was successful in normalizing the adrenal cortex function.

  18. A clinical study of Noonan syndrome. (United States)

    Sharland, M; Burch, M; McKenna, W M; Paton, M A


    Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years). Polyhydramnios complicated 33% of affected pregnancies. The commonest cardiac lesions were pulmonary stenosis (62%), and hypertrophic cardiomyopathy (20%), with a normal echocardiogram present in only 12.5% of all cases. Significant feeding difficulties during infancy were present in 76% of the group. Although the children were short (50% with a height less than 3rd centile), and underweight (43% with a weight less than 3rd centile), the mean head circumference of the group was on the 50th centile. Motor milestone delay was usual, the cohort having a mean age of sitting unsupported of 10 months and walking of 21 months. Abnormal vision (94%) and hearing (40%) were frequent findings, but 89% of the group were attending normal primary or secondary schools. Other associations included undescended testicles (77%), hepatosplenomegaly (50%), and evidence of abnormal bleeding (56%). The mean age at diagnosis of Noonan syndrome in this group was 9.0 years. Earlier diagnosis of this common condition would aid both clinical management and genetic counselling. Images Figure 1 Figure 2 Figure 3 PMID:1543375

  19. Symptom Severity of Restless Legs Syndrome Predicts Its Clinical Course. (United States)

    Lee, Chung Suk; Kim, Tae; Lee, Sumin; Jeon, Hong Jun; Bang, Young Rong; Yoon, In-Young


    This study examines the clinical course of restless legs syndrome according to its severity and factors associated with the remission of restless legs syndrome symptoms. The remission or persistence of restless legs syndrome symptoms was investigated by considering patients with restless legs syndrome at the sleep clinic of Seoul National University Bundang Hospital. All subjects were observed for at least 18 months, and an incidence of remission was defined as having no restless legs syndrome symptoms for at least 1 year. Restless legs syndrome severity was evaluated by the International Restless Legs Syndrome Study Group Rating Scale. A total of 306 patients participated in this study. Over the observation periods of 4.1 ± 1.6 years, the cumulative incidence of remission is 32.5% (95% confidence interval [CI], 27.0-38.0) and decreased with baseline restless legs syndrome severity (P restless legs syndrome cases, respectively. Most cases of remission (82/96) were observed within 1 year, and the remission occurred sooner for mild restless legs syndrome. The hazard ratios of remission by Cox proportional hazards model were lower for moderate (0.556; 95% CI, 0.340-0.909) and severe to very severe (0.193; 95% CI, 0.108-0.343) restless legs syndrome than for mild restless legs syndrome. The remission incidence was lower for those patients who had a family history of restless legs syndrome and were older at restless legs syndrome diagnosis. Mild restless legs syndrome severity, no family history, and young age at restless legs syndrome diagnosis were significant predictors of restless legs syndrome remission. More than 80% of patients with severe restless legs syndrome showed a chronic clinical course. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Novel Findings into AIRE Genetics and Functioning: Clinical Implications (United States)

    De Martino, Lucia; Capalbo, Donatella; Improda, Nicola; Lorello, Paola; Ungaro, Carla; Di Mase, Raffaella; Cirillo, Emilia; Pignata, Claudio; Salerno, Mariacarolina


    Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), formerly known as autoimmune polyendocrine syndrome type 1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE). AIRE acts as a transcription regulator that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled. In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE’s function and regulation thus improving our knowledge on the pathogenesis of APECED. In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications. PMID:27597936

  1. Novel findings into AIRE genetics and functioning: clinical implications

    Directory of Open Access Journals (Sweden)

    Lucia De Martino


    Full Text Available Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED, formerly known as Autoimmune Polyendocrine Syndrome type 1 (APS-1, is a paradigm of a monogenic autoimmune disease caused by mutations of a gene, named autoimmune regulator (AIRE. AIRE acts as a transcription factor that promotes immunological central tolerance by inducing the ectopic thymic expression of many tissue-specific antigens. Although the syndrome is a monogenic disease, it is characterized by a wide variability of the clinical expression with no significant correlation between genotype and phenotype. Indeed, many aspects regarding the exact role of AIRE and APECED pathogenesis still remain unraveled.In the last decades, several studies in APECED and in its mouse experimental counterpart have revealed new insights on how immune system learns self-tolerance. Moreover, novel interesting findings have extended our understanding of AIRE’s function and regulation thus improving our knowledge on the pathogenesis of APECED.In this review, we will summarize recent novelties on molecular mechanisms underlying the development of APECED and their clinical implications.

  2. A Rare Chromosome 3 Imbalance and Its Clinical Implications

    Directory of Open Access Journals (Sweden)

    Karen Sims


    Full Text Available The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and consequently symptoms. Even rarer is the unbalanced outcome from a parental inv(3 resulting in duplicated 3q and a deletion of 3p. Molecular karyotyping should aid in precisely determining the length and breakpoints of the 3q+/3p− so as to better understand a child’s future development and needs. We report a case of an infant male with a 57.5 Mb duplication from 3q23-qter. This patient also has an accompanying 1.7 Mb deletion of 3p26.3. The duplicated segment in this patient encompasses the known critical region of 3q26.3-q27, which is implicated in the previously reported 3q dup syndrome; however, the accompanying 3p26.3 deletion is smaller than the previously reported cases. The clinical phenotype of this patient relates to previously reported cases of 3q+ that may suggest that the accompanying 1.7 Mb heterozygous deletion is not clinically relevant. Taken together, our data has refined the location and extent of the chromosome 3 imbalance, which will aid in better understanding the molecular underpinning of the 3q syndrome.

  3. [Trichorhinophalangeal syndrome--clinical presentation and genetics]. (United States)

    Brodwall, Kristoffer M; Júlíusson, Pétur B; Bjerknes, Robert; Hovland, Randi; Fiskerstrand, Torunn


    The trichorhinophalangeal syndrome (TRPS) is a hereditary, skeletal dysplasia which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype. Typical findings may be mild and many patients probably remain undiagnosed. The paper is based on four case reports and provides a short review of the condition. Our four patients all have typical facial features, such as a large nose and thin upper lip, thin hair and short curved fingers with characteristic radiological findings. The condition is autosomal dominant and caused by a mutation in the TRPS1 gene, which codes a gene-regulating protein involved in development of hair and modulation of chondrocytes. The diagnosis can be based on clinical findings, but DNA-analysis can be of help in unclear situations. Two of our patients were diagnosed from clinical and radiological findings, but for the two others genetic examinations were done as well. There is no causal treatment, but the diagnosis can give patients an explanation of their problems, and genetic counseling for the patient and family can be offered. Orthopedic surgery and cosmetic aids are valuable for many. In an increasingly technified medical daily life, the clinical view is still the most important tool in diagnosing patients with this condition.

  4. Growing teratoma syndrome: clinical and radiographic characteristics. (United States)

    Lee, Dennis J; Djaladat, Hooman; Tadros, Nicholas N; Movassaghi, Mehran; Tejura, Tapas; Duddalwar, Vinay; Daneshmand, Siamak


    To present an overview of our surgical experience in the management of growing teratoma syndrome. A retrospective analysis of all patients undergoing post-chemotherapy retroperitoneal lymphadenectomy between November 2005 and February 2012 revealed 15 patients who met the criteria for growing teratoma syndrome. Their clinical data, imaging characteristics, and surgical and oncological outcomes were reviewed. The median age at diagnosis was 23 years. Primary testis tumors included non-seminomatous germ cell tumor in 12 of 15 patients, seminoma in two of 15 patients and hemorrhagic mass in one patient. Mature teratoma was present in just six (40%) of the orchiectomy specimens. All patients received preoperative chemotherapy. On imaging, the median size of the largest retroperitoneal mass was 7 cm (range 3.9-24.5 cm). The median rate of linear growth was 0.5 cm/month (range 0.03-2.9), and the increase in volume was 9.2 cm(3) /month. All tumors were found to have cystic and necrotic components. Median operative time was 6.2 h (range 4.2-15.2 h). Estimated blood loss was 600 mL (range 100-7000 mL), and median length of stay was 5 days (range 3-19 days). Four patients required resection of non-retroperitoneal growing teratoma masses after post-chemotherapy retroperitoneal lymphadenectomy to achieve tumor-free status. There were two minor (Clavien I-II) and two major postoperative complications (Clavien ≥III). All patients are alive and disease free with a median duration of follow-up of 8 months (range 1-64 months). Growing teratoma syndrome tumors vary in their growth rate, but they all appear to have cystic features with necrosis elements on radiographic evaluation. Aggressive surgical excision is associated with excellent outcomes. © 2014 The Japanese Urological Association.

  5. Diagnosis and clinical genetics of Cushing syndrome in pediatrics (United States)

    Stratakis, Constantine A.


    SYNOPSIS Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin (ACTH) in the pituitary gland (this form of CS is called Cushing disease) or elsewhere (ectopic CS), tumors that produce corticotropin-releasing hormone (CRH) anywhere (mostly neuroendocrine tissues), and finally adrenocortical masses that produce cortisol, such as adrenocortical cancer (ACC) or adenomas, and bilateral adrenocortical hypeprlasia (BAHs). ACC is a very rare cause of CS in children but should be excluded first, especially among younger patients. CS in children is often caused by germline or somatic mutations in an expanding list of genes with implications for the prognosis of the patients and for their families. CS should be early recognized in children; otherwise, it can lead to significant morbidity and mortality. All patients with suspected CS should be referred to specialized clinical centers for work-up; these centers should have access to experienced endocrine and neurological surgeons. PMID:27241967

  6. Prader-Willi Syndrome: Clinical Aspects

    Directory of Open Access Journals (Sweden)

    Grechi Elena


    Full Text Available Prader-Willi Syndrome (PWS is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13. The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy.

  7. Clinical management of the hypereosinophilic syndromes. (United States)

    Cogan, Elie; Roufosse, Florence


    Hypereosinophilic syndromes (HESs) are rare disorders characterized by marked hypereosinophilia that is directly responsible for organ damage or dysfunction. Different pathogenic mechanisms have been discovered in patient subgroups leading to the characterization of myeloproliferative and lymphocytic disease variants. In the updated terminology, idiopathic HES is now restricted to patients with HES of undetermined etiology. The practical clinical approach of patients with the different HES variants is reviewed herein, focusing on specific diagnostic tools and therapeutic options. Corticosteroids, hydroxyurea and IFN-α remain the classical agents for treatment of most patients with HESs. The specific role of therapeutic compounds that have become available more recently, namely, tyrosine kinase inhibitors and IL-5 antagonists, is discussed.

  8. Clinical Observation of a Child with Down Syndrome and Glucose and Galactose Malapsorbtion Syndrome

    Directory of Open Access Journals (Sweden)

    A.I. Kozhemiaka


    Full Text Available The article deals with a clinical case of primary glucose and galactose malabsorption syndrome in a child with Down syndrome. Difficulty in diagnosis of glucose and galactose malabsorption syndrome in this observation is due to a combination of this disease with other genetic pathology. The article introduces pediatricians and family doctors to the possible comorbidities of various congenital nosological forms.

  9. Early clinical manifestations of Sézary syndrome

    DEFF Research Database (Denmark)

    Mangold, Aaron R; Thompson, Agnieszka K; Davis, Mark D


    BACKGROUND: Classic Sézary syndrome (SS) is defined by erythroderma, generalized lymphadenopathy, and leukemic blood involvement. Clinical observations suggest that SS begins as a nonerythrodermic disease. OBJECTIVE: To describe the early clinical characteristics of patients with SS. METHODS...

  10. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study (United States)

    Halbach, Nicky; Julu, Peter; Witt‐Engerström, Ingegerd; Pini, Giorgio; Bigoni, Stefania; Hansen, Stig; Apartopoulos, Flora; Delamont, Robert; van Roozendaal, Kees; Scusa, Maria F.; Borelli, Paolo; Candel, Math; Curfs, Leopold


    Many studies have attempted to establish the genotype–phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well‐defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype–phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non‐invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence‐based management in RTT. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. PMID:27354166

  11. Perinatal clinical and imaging features of CLOVES syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez-Pineda, Israel [Virgen del Rocio Children' s Hospital, Department of Pediatric Surgery, Seville (Spain); Fajardo, Manuel [Virgen del Rocio Children' s Hospital, Department of Pediatric Radiology, Seville (Spain); Chaudry, Gulraiz; Alomari, Ahmad I. [Children' s Hospital Boston and Harvard Medical School, Division of Vascular and Interventional Radiology, Boston, MA (United States)


    We report a neonate with antenatal imaging features suggestive of CLOVES syndrome. Postnatal clinical and imaging findings confirmed the diagnosis, with the constellation of truncal overgrowth, cutaneous capillary malformation, lymphatic and musculoskeletal anomalies. The clinical, radiological and histopathological findings noted in this particular phenotype help differentiate it from other overgrowth syndromes with complex vascular anomalies. (orig.)

  12. Clinical features of Chinese patients with Fuchs' syndrome

    NARCIS (Netherlands)

    Yang, Peizeng; Fang, Wang; Jin, Haoli; Li, Bing; Chen, Xuan; Kijlstra, Aize


    To characterize the clinical features of Chinese patients with Fuchs' syndrome. Retrospective noncomparative case series. One hundred eighteen eyes of 104 consecutive patients with Fuchs' syndrome initially examined between January 1999 and March 2005. The history and clinical findings of all

  13. Clinical Characteristics of Fuchs’ Uveitis Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Çakar Özdal


    Full Text Available Objectives: To evaluate the clinical and demographic properties of Fuchs’ uveitis syndrome (FUS in Turkish patients. Materials and Methods: The medical records of 161 patients with FUS followed in the Uveitis Division of Ulucanlar Eye Hospital between 1996 and 2014 were respectively reviewed. The mean age at diagnosis, sex, the number of affected eyes, follow-up period, clinical findings at presentation, complications during the follow-up period, medical and surgical treatments, and best corrected visual acuity at the initial and final visits were recorded. Results: The study included 171 eyes of 161 patients diagnosed with FUS. Of the patients, 94 (58.4% were female and 67 (41.6% were male. The mean age at presentation was 35.2±11.0 (11-65 years. The mean follow-up period was 23.5±32.8 (2-216 months. Ten (6.2% patients had bilateral involvement. The most common symptoms at presentation were decreased visual acuity or blurred vision in 63 (39.1% and floaters in 19 (11.8% patients. Clinical findings at presentation included diffuse small, round, white keratic precipitates in 128 (74.8% eyes, anterior chamber reaction in 82 (47.9%, vitreous cells in 122 (71.3%, heterochromia in 47 (27.4% and iris nodules in 32 (18.7% eyes. During the follow-up period, elevated intraocular pressure occured in 31 (18.1% eyes and the most common complication was cataract development (89 eyes, 52.0%. Conclusion: Heterochromia was observed in 27.4% of patients in our study. However, the diffuse small, round keratic precipitates, low-grade anterior chamber reaction and varying degrees of vitreous reaction are more common clinical characteristics that are helpful in making the diagnosis.

  14. Clinical Characteristics of Fuchs’ Uveitis Syndrome (United States)

    Nalçacıoğlu, Pınar; Çakar Özdal, Pınar; Şimşek, Mert


    Objectives: To evaluate the clinical and demographic properties of Fuchs’ uveitis syndrome (FUS) in Turkish patients. Materials and Methods: The medical records of 161 patients with FUS followed in the Uveitis Division of Ulucanlar Eye Hospital between 1996 and 2014 were respectively reviewed. The mean age at diagnosis, sex, the number of affected eyes, follow-up period, clinical findings at presentation, complications during the follow-up period, medical and surgical treatments, and best corrected visual acuity at the initial and final visits were recorded. Results: The study included 171 eyes of 161 patients diagnosed with FUS. Of the patients, 94 (58.4%) were female and 67 (41.6%) were male. The mean age at presentation was 35.2±11.0 (11-65) years. The mean follow-up period was 23.5±32.8 (2-216) months. Ten (6.2%) patients had bilateral involvement. The most common symptoms at presentation were decreased visual acuity or blurred vision in 63 (39.1%) and floaters in 19 (11.8%) patients. Clinical findings at presentation included diffuse small, round, white keratic precipitates in 128 (74.8%) eyes, anterior chamber reaction in 82 (47.9%), vitreous cells in 122 (71.3%), heterochromia in 47 (27.4%) and iris nodules in 32 (18.7%) eyes. During the follow-up period, elevated intraocular pressure occured in 31 (18.1%) eyes and the most common complication was cataract development (89 eyes, 52.0%). Conclusion: Heterochromia was observed in 27.4% of patients in our study. However, the diffuse small, round keratic precipitates, low-grade anterior chamber reaction and varying degrees of vitreous reaction are more common clinical characteristics that are helpful in making the diagnosis. PMID:27800260

  15. Clinical Characteristics of Fuchs' Uveitis Syndrome. (United States)

    Nalçacıoğlu, Pınar; Çakar Özdal, Pınar; Şimşek, Mert


    To evaluate the clinical and demographic properties of Fuchs' uveitis syndrome (FUS) in Turkish patients. The medical records of 161 patients with FUS followed in the Uveitis Division of Ulucanlar Eye Hospital between 1996 and 2014 were respectively reviewed. The mean age at diagnosis, sex, the number of affected eyes, follow-up period, clinical findings at presentation, complications during the follow-up period, medical and surgical treatments, and best corrected visual acuity at the initial and final visits were recorded. The study included 171 eyes of 161 patients diagnosed with FUS. Of the patients, 94 (58.4%) were female and 67 (41.6%) were male. The mean age at presentation was 35.2±11.0 (11-65) years. The mean follow-up period was 23.5±32.8 (2-216) months. Ten (6.2%) patients had bilateral involvement. The most common symptoms at presentation were decreased visual acuity or blurred vision in 63 (39.1%) and floaters in 19 (11.8%) patients. Clinical findings at presentation included diffuse small, round, white keratic precipitates in 128 (74.8%) eyes, anterior chamber reaction in 82 (47.9%), vitreous cells in 122 (71.3%), heterochromia in 47 (27.4%) and iris nodules in 32 (18.7%) eyes. During the follow-up period, elevated intraocular pressure occured in 31 (18.1%) eyes and the most common complication was cataract development (89 eyes, 52.0%). Heterochromia was observed in 27.4% of patients in our study. However, the diffuse small, round keratic precipitates, low-grade anterior chamber reaction and varying degrees of vitreous reaction are more common clinical characteristics that are helpful in making the diagnosis.

  16. Estrogen-gut microbiome axis: Physiological and clinical implications. (United States)

    Baker, James M; Al-Nakkash, Layla; Herbst-Kralovetz, Melissa M


    Low levels of gonadal circulating estrogen observed in post-menopausal women can adversely impact a diverse range of physiological factors, with clinical implications for brain cognition, gut health, the female reproductive tract and other aspects of women's health. One of the principal regulators of circulating estrogens is the gut microbiome. This review aims to shed light on the role of the gut microbiota in estrogen-modulated disease. The gut microbiota regulates estrogens through secretion of β-glucuronidase, an enzyme that deconjugates estrogens into their active forms. When this process is impaired through dysbiosis of gut microbiota, characterized by lower microbial diversity, the decrease in deconjugation results in a reduction of circulating estrogens. The alteration in circulating estrogens may contribute to the development of conditions discussed herein: obesity, metabolic syndrome, cancer, endometrial hyperplasia, endometriosis, polycystic ovary syndrome, fertility, cardiovascular disease (CVD) and cognitive function. The bi-directional relationship between the metabolic profile (including estrogen levels) and gut microbiota in estrogen-driven disease will also be discussed. Promising therapeutic interventions manipulating the gut microbiome and the metabolic profile of estrogen-driven disease, such as bariatric surgery and metformin, will be detailed. Modulation of the microbiome composition subsequently impacts the metabolic profile, and vice versa, and has been shown to alleviate many of the estrogen-modulated disease states. Last, we highlight promising research interventions in the field, such as dietary therapeutics, and discuss areas that provide exciting unexplored topics of study. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. [Myelodysplastic syndromes: pathophysiology, clinical and biological features]. (United States)

    Becha, Mohamed; Braham Jmili, Néjia


    Myelodysplastic syndromes (MDS) are hemopathies very common in geriatric practice. They are characterized by qualitative morphological abnormalities of one or more myeloid lineages responsible for an ineffective hematopoiesis, and therefore cytopenias of central origin contrasting with a usually rich bone marrow wealth. The MDS are asymptomatic in half of the cases and their discovery is a result of systematic blood analysis or tests to explore another disease. The evolution is marked by worsening cytopenias, and the risk of acute myeloid leukemia transformation with poor prognosis because frequently chemoresistant. The diagnosis of MDS is pronounced after a clinico-biological confrontation to discuss the differential diagnosis taking into account all clinical and cytological data, results of conventional cytogenetics and evolution after vitamin therapy. Knowledge more depth on MDS refine MDS classification criteria by developing successive classifications (FAB 1982, WHO 2001 and 2008) which aim the identification of MDS groups with clinical, biological and common prognostic. The treatment of MDS is essentially symptomatic. The development of new targeted therapeutic strategies enables high hopes in a context where treatment options are a difficult choice, because the advanced age of most patients. Finally, detailed knowledge of risk factors and prognostic scores are very useful to make the best treatment decisions.

  18. Brain microbleeds: Epidemiology and clinical implications. (United States)

    Boyano, I; Bravo, N; Miranda, J; Gil-Gregorio, P; Olazarán, J


    Brain microbleeds (BMB) are haemosiderin deposits contained within macrophages, which are displayed as hypointense images in some T2-weighted magnetic resonance imaging sequences. There are still many questions to be answered about the pathophysiology and clinical relevance of BMB. We conducted a literature review of the main epidemiological, clinical, and anatomical pathology studies of BMB performed in the general population, in patients at risk of or already suffering from a vascular disease, and in patients with cognitive impairment. We analysed the prevalence of BMB, risk factors, and potential pathophysiological mechanisms and clinical implications. The prevalence of BMB is highly variable (3%-27% in the general population, 6%-80% in patients with vascular risk factors or vascular disease, and 16%-45% in patients with cognitive impairment). BMB are associated with ageing, Alzheimer disease (AD), and in particular haemorrhagic or ischaemic cerebrovascular disease. The pathological substrate of BMB is either lipohyalinosis (subcortical BMB) or cerebral amyloid angiopathy (lobar BMB). BMB exacerbate cognitive impairment, possibly through cortical-subcortical and intracortical disconnection, and increase the risk of death, mostly due to vascular causes. BMB also increase the risk of cerebral haemorrhage, particularly in patients with multiple lobar BMB (probable erebral amyloid angiopathy). Therefore, anticoagulant treatment may be contraindicated in these patients. In patients with lower risk of bleeding, the new oral anticoagulants and the combination of clinical and magnetic resonance imaging follow-up could be helpful in the decision-making process. Copyright © 2016 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  19. [Asperger syndrome: evolution of the concept and current clinical data]. (United States)

    Aussilloux, C; Baghdadli, A


    Although Asperger syndrome is described by international classifications as a category of pervasive developmental disorder (PDD), its validity as a specific entity distinct from autistic disorders remains controversial. The syndrome, first described by Hans Asperger, could not be distinguished from high functioning autism (onset, symptoms, outcome...). However, international classifications propose a distinction between the two syndromes based on a delayed onset, the absence of speech delay, the presence of motor disorders and a better outcome in Asperger syndrome. This categorical differentiation is not confirmed by current studies and in the absence of biological markers, no clinical, neuropsychological or epidemiological criteria makes it possible to distinguish high functioning autism from Asperger syndrome. From a clinical perspective, it is nevertheless of interest to isolate Asperger syndrome from other autistic disorders to propose specific assessment and therapy.

  20. [Ogilvie syndrome. 2 clinical case reports]. (United States)

    Terzi, A; Menghini, I; Manzi, A; Bonini, C A


    Acute pseudo-obstruction of the colon is an uncommon syndrome usually related to other diseases. Two patients with this syndrome are described. It is stressed that it is of paramount importance to recognize this syndrome as a high mortality is present in these patients if they are not treated in a right fashion. The treatment doesn't require surgery unless a complication, like cecum perforation, doesn't appear.

  1. Glomerular hyperfiltration: definitions, mechanisms and clinical implications. (United States)

    Helal, Imed; Fick-Brosnahan, Godela M; Reed-Gitomer, Berenice; Schrier, Robert W


    Glomerular hyperfiltration is a phenomenon that can occur in various clinical conditions including kidney disease. No single definition of glomerular hyperfiltration has been agreed upon, and the pathophysiological mechanisms, which are likely to vary with the underlying disease, are not well explored. Glomerular hyperfiltration can be caused by afferent arteriolar vasodilation as seen in patients with diabetes or after a high-protein meal, and/or by efferent arteriolar vasoconstriction owing to activation of the renin-angiotensin-aldosterone system, thus leading to glomerular hypertension. Glomerular hypertrophy and increased glomerular pressure might be both a cause and a consequence of renal injury; understanding the renal adaptations to injury is therefore important to prevent further damage. In this Review, we discuss the current concepts of glomerular hyperfiltration and the renal hemodynamic changes associated with this condition. A physiological state of glomerular hyperfiltration occurs during pregnancy and after consumption of high-protein meals. The various diseases that have been associated with glomerular hyperfiltration, either per nephron or per total kidney, include diabetes mellitus, polycystic kidney disease, secondary focal segmental glomerulosclerosis caused by a reduction in renal mass, sickle cell anemia, high altitude renal syndrome and obesity. A better understanding of the mechanisms involved in glomerular hyperfiltration could enable the development of new strategies to prevent progression of kidney disease.

  2. Clinical correlates of the restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Luis Fabiano Marin


    Full Text Available OBJECTIVE: To determine the clinical correlates of the restless legs syndrome (RLS in a Brazilian sleep disorders center. METHODS: We retrospectively studied 118 patients with RLS from January, 2004, to December, 2010. The analyzed variables were: age at disease onset, gender, race, years of school instruction, primary and secondary RLS, and treatment options. RESULTS: Among the studied patients, 83.9% were women with a female/male sex ratio of 5:1. Mean age of the patients at symptom onset ± standard deviation was 41.7±17.9 years-old. The primary RLS was found in 85% of patients. The other 15% remainders consisted of secondary forms, and they were associated with neuropathy, iron deficiency anemia, end-stage renal disease, or Parkinson's disease. Drug therapy for RLS was introduced in 67% of patients. CONCLUSIONS: Most patients presented primary RLS with an early disease onset. Further epidemiological studies are welcomed to provide better information on secondary RLS in Brazil.

  3. Frey's syndrome - unusually long delayed clinical onset ...

    African Journals Online (AJOL)

    Frey's syndrome is a complication of parotidectomy that is thought to occur as a result of aberrant regeneration of the postganglionic parasympathetic nerve fibres supplying the parotid gland to severed ostganglionic sympathetic fibres which innervate the sweat glands of the face. Frey's syndrome is difficult to treat but is a ...

  4. Clinical Characteristics of Dry Eye Patients With Chronic Pain Syndromes

    NARCIS (Netherlands)

    Vehof, Jelle; Smitt-Kamminga, Nicole Sillevis; Kozareva, Diana; Nibourg, Simone A.; Hammond, Christopher J.

    PURPOSE: To investigate clinical characteristics of dry eye disease (DED) patients with a chronic pain syndrome. DESIGN: Cross-sectional. study. METHODS: Four hundred twenty-five patients of a tertiary care DED patient cohort in the Netherlands were included. Chronic pain syndromes irritable bowel

  5. [Ogilvie syndrome after cesarean section. A clinical contribution]. (United States)

    Vitale, G; Mancuso, P; Linciano, M; Binotto, F; Tinti, S; Torresin, L; Ferrari, P


    Following the observation of a case of acute pseudo-obstruction of the colon (Ogilvie's syndrome) after cesarean section, the Authors describe their clinical experience in relation to recently published reports. While discussing other features of the syndrome, the importance of radiological monitoring of the colonic stasis and the validity of perendoscopic decompression of the colon as an efficacious therapy are underlined.

  6. "Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

    Directory of Open Access Journals (Sweden)

    Parisi Pasquale


    Full Text Available Abstract The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views.

  7. Prostate cancer epigenetics and its clinical implications

    Directory of Open Access Journals (Sweden)

    Srinivasan Yegnasubramanian


    Full Text Available Normal cells have a level of epigenetic programming that is superimposed on the genetic code to establish and maintain their cell identity and phenotypes. This epigenetic programming can be thought as the architecture, a sort of cityscape, that is built upon the underlying genetic landscape. The epigenetic programming is encoded by a complex set of chemical marks on DNA, on histone proteins in nucleosomes, and by numerous context-specific DNA, RNA, protein interactions that all regulate the structure, organization, and function of the genome in a given cell. It is becoming increasingly evident that abnormalities in both the genetic landscape and epigenetic cityscape can cooperate to drive carcinogenesis and disease progression. Large-scale cancer genome sequencing studies have revealed that mutations in genes encoding the enzymatic machinery for shaping the epigenetic cityscape are among the most common mutations observed in human cancers, including prostate cancer. Interestingly, although the constellation of genetic mutations in a given cancer can be quite heterogeneous from person to person, there are numerous epigenetic alterations that appear to be highly recurrent, and nearly universal in a given cancer type, including in prostate cancer. The highly recurrent nature of these alterations can be exploited for development of biomarkers for cancer detection and risk stratification and as targets for therapeutic intervention. Here, we explore the basic principles of epigenetic processes in normal cells and prostate cancer cells and discuss the potential clinical implications with regards to prostate cancer biomarker development and therapy.

  8. Clinical implications of vitamin D deficiency

    Directory of Open Access Journals (Sweden)

    Beata Matyjaszek-Matuszek


    Full Text Available Vitamin D deficiency is a common medical problem worldwide and its prevalence rises along with latitude, obesity, sedentary lifestyle, limited sunlight exposure and aging. A great body of evidence has shown that patients with vitamin D deficiency have increased cardiovascular risks and total mortality. Conversely, the presence of comorbidities progressive with age such as abdominal obesity, insulin resistance, type 2 diabetes and hypertension places the patients at an increased risk of vitamin D deficiency. The multidirectional effect of vitamin D deficiency is present in different phases of the aging process. Based on the literature review, the risk factors for vitamin D insufficiency most often found in post-menopausal women include limited sun exposure and time spent outdoors, inadequate dietary vitamin D intake, winter season and increased age. Vitamin D supplementation in this group might offer prevention of falls and fractures and may be beneficial for cardiovascular health, what may be especially important in osteoporotic and elderly populations. Prevention and treatment processes involve education regarding sunlight exposure and pharmacological cholecalciferol supplementation according to the recommendations for Central Europe. This manuscript reviews the role of vitamin D and its deficiency and considers their clinical implications, with particular regard to peri- and postmenopausal women.

  9. Central Hyperexcitability in Chronic Musculoskeletal Pain: A Conceptual Breakthrough with Multiple Clinical Implications

    Directory of Open Access Journals (Sweden)

    Jan Lidbeck


    Full Text Available Recent investigations of dysfunctional pain processing in the central nervous system have contributed much knowledge about the development of chronic musculoskeletal pain. Many common chronic musculoskeletal pain syndromes - including regional myofascial pain syndromes, whiplash pain syndromes, refractory work-related neck-shoulder pain, certain types of chronic low back pain, fibromyalgia and others - may essentially be explained by abnormalities in central pain modulation. The growing awareness of dysfunctional central pain modulation may be a conceptual breakthrough leading to a better understanding of common chronic pain disorders. A new paradigm will have multiple clinical implications, including re-evaluation of clinical practice routines and rehabilitation methods, and will focus on controversial issues of medicolegal concern. The concept of dysfunctional central pain processing will also necessitate a mechanism-based classification of pain for the selection of individual treatment and rehabilitation programs for subgroups of patients with chronic musculoskeletal pain due to different pathophysiological mechanisms.

  10. Severe acute respiratory syndrome: implications for perinatal and neonatal nurses. (United States)

    Rebmann, Terri


    Severe acute respiratory syndrome (SARS) is an emerging infection that causes a potentially fatal respiratory disease. Although the SARS outbreak lasted less than 1 year, it resulted in significant morbidity and mortality and impacted nursing practices. A literature review was conducted. Only English language research articles in peer-reviewed journals, national organization publications, and book chapters were utilized. Data from 37 relevant articles were extracted, analyzed, and summarized. SARS' clinical description is presented, including its common signs/symptoms, diagnosis, and treatment. Recommended isolation practices for labor and delivery and proper procedures for donning, using, and doffing personal protective equipment are provided. Potential maternal outcomes include spontaneous miscarriage during the first trimester, preterm birth, emergency cesarean section, renal failure, secondary bacterial pneumonia, sepsis, adult respiratory distress syndrome, disseminated intravascular coagulation, surgical site infection, and maternal death. There have been no documented cases of vertical transmission; passive immunity is suspected on the basis of the presence of antibodies in some maternal body fluids. Potential neonatal outcomes include complications related to premature birth, intrauterine growth restriction, respiratory distress syndrome, and severe gastrointestinal manifestations. It is not known if or when SARS will reemerge, but perinatal and neonatal nurses should become familiar with its clinical description and proper infection control procedures to halt potential outbreaks.





    Forty two babies with Meconium aspiration syndrome managed in neonatal intensive care unit of a service hospital were analysed. Incidence was 1.7 per cent. Twelve babies were delivered by caserean section and 30 babies by vaginal route. Seventeen deliveries were conducted by team of gynaecologists, pediatrician and nursing staff whereas 25 deliveries were conducted by nursing staff alone. Out of total babies with meconium aspiration syndrome, thin meconium detected in 9 and thick meconium det...

  12. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. (United States)

    Bode, Sebastian Fn; Ammann, Sandra; Al-Herz, Waleed; Bataneant, Mihaela; Dvorak, Christopher C; Gehring, Stephan; Gennery, Andrew; Gilmour, Kimberly C; Gonzalez-Granado, Luis I; Groß-Wieltsch, Ute; Ifversen, Marianne; Lingman-Framme, Jenny; Matthes-Martin, Susanne; Mesters, Rolf; Meyts, Isabelle; van Montfrans, Joris M; Pachlopnik Schmid, Jana; Pai, Sung-Yun; Soler-Palacin, Pere; Schuermann, Uta; Schuster, Volker; Seidel, Markus G; Speckmann, Carsten; Stepensky, Polina; Sykora, Karl-Walter; Tesi, Bianca; Vraetz, Thomas; Waruiru, Catherine; Bryceson, Yenan T; Moshous, Despina; Lehmberg, Kai; Jordan, Michael B; Ehl, Stephan


    Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with immunodeficiencies; (ii) this syndrome can develop despite severe deficiency of T and NK cells, implying that the pathophysiology is distinct and not appropriately described as "lympho"-histiocytosis in these patients; and (iii) current criteria for hemophagocytoc lymphohistiocytosis are insufficient to differentiate hemophagocytic inflammatory syndromes with different pathogeneses. This is important because of implications for therapy, in particular for protocols targeting T cells. Copyright© Ferrata Storti Foundation.

  13. Pragmatic Language in autism and fragile X syndrome: Genetic and clinical applications. (United States)

    Losh, Molly; Martin, Gary E; Klusek, Jessica; Hogan-Brown, Abigail L


    Evidence suggests a strong genetic basis to autism. Our research program focuses on identifying genetically meaningful phenotypes in autism, through family-genetic and cross-population methods, with a particular focus on language and social phenotypes that have been shown to aggregate in families of individuals with autism. In this article, we discuss recent findings from family study research implicating particular language and personality features as markers for genetic liability to autism and fragile X syndrome and FMR1 -related variation in relatives. We conclude with consideration of the clinical implications of such findings.

  14. Savant Syndrome: Clinical and Neuropsychological Features

    Directory of Open Access Journals (Sweden)

    Ibrahim Durukan


    Full Text Available Savant syndrome defines the people who have severe developmental and mental disabilities but also have extraordinary mental skills which are missing in many people. Although general mental capacity is under average mental level, savant has excessive knowledge about one or more domains. It is accepted that as many as one in 10 persons with autistic disorder have such remarkable abilities in varying degrees, although savant syndrome occurs in other developmental disabilities or in other types of central nervous system injury or disease as well. Males outnumber females by an approximate 6 : 1 ratio in savant syndrome. Savant skills are limited to five general categories. These are music, art, calender calculating, mathematics and mechanical or spatial skills. Savant skills can also be divided into three as savants who have splinter skills, talented savants and prodigious savants. A remarkable memory welds to the special abilities determined in savant syndrome. Savant syndrome can be congenital or it can be acquired. Most often savant skills emerge in childhood, superimposed on some underlying developmental disability present at birth. However, acquired savant skills can also appear, when none were previously present, in neurotypical individuals following brain injury or disease later in infancy, childhood or adult life. Savant skills don’t depend on only rote memory. It is approved that an enhanced or spared ability to represent and manipulate highly organised domain-specific information. Various theoretic models were defined to explain the neuropsychological profile in savant syndrome. Interest in savants has a long history, stretching back to the early 18th century; nevertheless, the savant syndrome remains as much a mystery now as it did when it was first described. Given that many questions about the existence and nature of savant talent remain unanswered, it seems likely that research efforts will continue unabated.

  15. Neurobiology and clinical implications of lucid dreaming. (United States)

    Mota-Rolim, Sérgio A; Araujo, John F


    Several lines of evidence converge to the idea that rapid eye movement sleep (REMS) is a good model to foster our understanding of psychosis. Both REMS and psychosis course with internally generated perceptions and lack of rational judgment, which is attributed to a hyperlimbic activity along with hypofrontality. Interestingly, some individuals can become aware of dreaming during REMS, a particular experience known as lucid dreaming (LD), whose neurobiological basis is still controversial. Since the frontal lobe plays a role in self-consciousness, working memory and attention, here we hypothesize that LD is associated with increased frontal activity during REMS. A possible way to test this hypothesis is to check whether transcranial magnetic or electric stimulation of the frontal region during REMS triggers LD. We further suggest that psychosis and LD are opposite phenomena: LD as a physiological awakening while dreaming due to frontal activity, and psychosis as a pathological intrusion of dream features during wake state due to hypofrontality. We further suggest that LD research may have three main clinical implications. First, LD could be important to the study of consciousness, including its pathologies and other altered states. Second, LD could be used as a therapy for recurrent nightmares, a common symptom of depression and post-traumatic stress disorder. Finally, LD may allow for motor imagery during dreaming with possible improvement of physical rehabilitation. In all, we believe that LD research may clarify multiple aspects of brain functioning in its physiological, altered and pathological states. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

  16. From defibrillation theory to clinical implications. (United States)

    Irnich, Werner


    Our defibrillation theory claims that the mean voltage threshold is a hyperbolic function of pulse duration and that voltages below rheobase should be avoided as being counterproductive. Truncation of the pulse just at rheobase level yields minimal stored energy thresholds. To verify or falsify this theory, animal experiments were carried out. In two animal experiments, 212 defibrillation thresholds in 22 swine were determined with different biphasic pulses of which 92 were optimally truncated in phase 1. Step-up test procedure was used with the first successful shock defined as "threshold." Experimental proof is gained that truncation according to "rheobase condition" shows lowest stored energy. A ranking order of stored energy thresholds demonstrates that (1) lower output capacitances reduce needed energy, and (2) pulse durations shorter or longer than optimal increase needed energy. The voltage-pulse-content threshold is linearly correlated with pulse duration. Truncation above or below rheobase increases the stored energy threshold. Voltage averaged during pulse duration is a hyperbolic function of pulse duration. The stored energy is reduced with decreasing output capacitance. The experimental results do not only fully verify our theory, they also suggest clinical implications: (1) the current usage of the "constant tilt concept" in implantable cardioverter defibrillator (ICD) should be abandoned in favor of "optimal truncation concept," (2) an algorithm developed for calculating optimal truncation proved to be useful so that incorporation into ICD for automatic adjustment is recommended, and (3) the output capacitance should be reduced from about 100 microF to 60 to 70 microF.

  17. [Clinical and pathological features of Alport syndrome in children]. (United States)

    Zhu, Chun-Hua; Huang, Song-Ming; Wu, Hong-Mei; Bao, Hua-Ying; Chen, Ying; Han, Yuan; Zhao, Fei; Zhang, Ai-Hua; Zhang, Wei-Zhen


    To study the clinical and pathological features of Alport syndrome in children. The clinical and histopathological data of 10 hospitalized children with Alport syndrome from February 2007 to February 2009 were retrospectively reviewed. There were 7 males and 3 females, with the age ranging from 2 years to 6 years and 7 months (mean 3 years and 2 months). Five of 10 cases had positive family history. X-linked dominant inheritance Alport syndrome was diagnosed in 8 cases, and autosomal recessive inheritance Alport syndrome in 2 cases. Recurrent gross hematuria was found in 5 cases, hematuria and proteinuria in 3 cases, massive proteinuria in 1 case, and nephritic syndrome in 1 case. Under the light microscope, 8 cases presented with mesangial proliferation glomerulonephritis, and 2 cases with focal segmental glomerulosclerosis. Immunofluorescence assay showed that all cases had IgM deposition in glomerulus. Only 1 case showed typical glomerular basement membrane (GBM) pathological changes. All cases showed abnormal alpha-chain distribution in renal collagen IV. The children with Alport syndrome have diverse clinical manifestations. Characteristic histopathological presentations could not be found under a light microscope, mesangial proliferation glomerulonephritis is the dominant pathological change, and IgM deposition in glomerulus is common. The GBM pathological change in children is not common. Immunofluorescence assay of alpha-chain in collagen IV is needed for the diagnosis of Alport syndrome.

  18. Mallory-Weiss syndrome: clinical and endoscopic characteristics. (United States)

    Yin, Anning; Li, Yi; Jiang, Yingan; Liu, Jun; Luo, Hesheng


    Mallory-Weiss syndrome is defined by upper gastrointestinal bleeding from vomiting-induced mucosal lacerations at the esophago-gastric junction. This study was purposed to investigate the incidence, location, clinical manifestation, diagnosis and effectiveness of treatment (including endoscopic treatment and conservative medical treatment) of Mallory-Weiss syndrome in China. All patients who received emergency upper gastrointestinal endoscopy due to Mallory-Weiss syndrome from September 2007 to August 2011 at gastrointestinal endoscopy center of Renmin Hospital of Wuhan University were included in this study. The clinical presentation, medical history, location and characteristics of Mallory-Weiss syndrome methods and effectiveness of therapy of patients with Mallory-Weiss syndrome were retrospectively analyzed by chart reviews. Long-term follow-up data were collected at outpatient clinics or telephone interviews. Sixteen patients were diagnosed with Mallory-Weiss syndrome, which account for 3.08% of 519 patients with acute non-variceal upper gastrointestinal bleeding. Common comorbidities were found in one patient with hepatic cirrhosis. Conservative medical treatment, local injection, hemoclipping, or multipolar electrocoagulation produced primary hemostasis in 87.5% (14/16) of patients. Mallory-Weiss syndrome is uncommon in China in comparison with reported experience in the west when the same group of patients is selected. Different approaches to treatment are to be recommended depending on whether or not active hemorrhage is present. Crown Copyright © 2012. Published by Elsevier B.V. All rights reserved.

  19. Clinical consequences and economic costs of untreated obstructive sleep apnea syndrome

    Directory of Open Access Journals (Sweden)

    Melissa Knauert


    Full Text Available Objective: To provide an overview of the healthcare and societal consequences and costs of untreated obstructive sleep apnea syndrome. Data sources: PubMed database for English-language studies with no start date restrictions and with an end date of September 2014. Methods: A comprehensive literature review was performed to identify all studies that discussed the physiologic, clinical and societal consequences of obstructive sleep apnea syndrome as well as the costs associated with these consequences. There were 106 studies that formed the basis of this analysis. Conclusions: Undiagnosed and untreated obstructive sleep apnea syndrome can lead to abnormal physiology that can have serious implications including increased cardiovascular disease, stroke, metabolic disease, excessive daytime sleepiness, work-place errors, traffic accidents and death. These consequences result in significant economic burden. Both, the health and societal consequences and their costs can be decreased with identification and treatment of sleep apnea. Implications for practice: Treatment of obstructive sleep apnea syndrome, despite its consequences, is limited by lack of diagnosis, poor patient acceptance, lack of access to effective therapies, and lack of a variety of effective therapies. Newer modes of therapy that are effective, cost efficient and more accepted by patients need to be developed. Keywords: Obstructive sleep apnea syndrome, Cost, Continuous positive airway pressure, Mandibular advancement device

  20. Clinical Ethics Consultation After God: Implications for Advocacy and Neutrality. (United States)

    Parker, J Clint


    In After God: Morality and Bioethics in a Secular Age, H. Tristram Engelhardt, Jr. explores the broad implications for moral reasoning once a culture has lost a God's-eye perspective. In this paper, I focus on the implications of Engelhardt's views for clinical ethics consultation. I begin by examining the question of whether clinical ethics consultants (CECs) should advocate a particular viewpoint and/or process during consultations or adopt a neutral stance. I then examine the implications of Engelhardt's views for this question. Finally, I discuss some of Engelhardt's foundational ontological, metaphysical, meta-ethical, and epistemological commitments and how these commitments connect to his views on clinical ethics consultation.

  1. Paraneoplastic Neurological Syndromes: Clinical And Serological Studies

    NARCIS (Netherlands)

    S.G. Shamsili (Setareh)


    textabstractThe term “paraneoplastic syndromes” refers to symptoms or signs resulting from damage to organs or tissues that are remote from the site of a malignant neoplasm or its metastases. Paraneoplastic syndromes can affect most organs and tissues including the nervous system. Since the fi rst

  2. Myelodysplastic syndromes: clinical and biological advances

    National Research Council Canada - National Science Library

    Greenberg, Peter L


    ..., to a review of recent molecular and cytogenetic discoveries and insights. This book will be a valuable resource for clinicians and researchers who wish to learn more about myelodysplastic syndromes. Peter L. Greenberg is Professor of Medicine at Stanford University Cancer Center, Stanford, and Chief, Hematology Section, VA Palo Alto Health Care Sy...

  3. Trichorhinophalangeal syndrome II, expanding the clinical spectrum

    African Journals Online (AJOL)

    Rabah M. Shawky


    Jun 17, 2014 ... an autosomal dominant fashion, most cases of TRPS II are sporadic [1]. TRPS III, is a form of brachydactyly due to short metacarpals and severe .... and broad on both sides (black asterisk), the fifth metacarpal bone has similar yet less pronounced appearance (white asterisk). Langer–Giedion syndrome. 91 ...

  4. Dopamine agonist withdrawal syndrome: implications for patient care. (United States)

    Nirenberg, Melissa J


    Dopamine agonists are effective treatments for a variety of indications, including Parkinson's disease and restless legs syndrome, but may have serious side effects, such as orthostatic hypotension, hallucinations, and impulse control disorders (including pathological gambling, compulsive eating, compulsive shopping/buying, and hypersexuality). The most effective way to alleviate these side effects is to taper or discontinue dopamine agonist therapy. A subset of patients who taper a dopamine agonist, however, develop dopamine agonist withdrawal syndrome (DAWS), which has been defined as a severe, stereotyped cluster of physical and psychological symptoms that correlate with dopamine agonist withdrawal in a dose-dependent manner, cause clinically significant distress or social/occupational dysfunction, are refractory to levodopa and other dopaminergic medications, and cannot be accounted for by other clinical factors. The symptoms of DAWS include anxiety, panic attacks, dysphoria, depression, agitation, irritability, suicidal ideation, fatigue, orthostatic hypotension, nausea, vomiting, diaphoresis, generalized pain, and drug cravings. The severity and prognosis of DAWS is highly variable. While some patients have transient symptoms and make a full recovery, others have a protracted withdrawal syndrome lasting for months to years, and therefore may be unwilling or unable to discontinue DA therapy. Impulse control disorders appear to be a major risk factor for DAWS, and are present in virtually all affected patients. Thus, patients who are unable to discontinue dopamine agonist therapy may experience chronic impulse control disorders. At the current time, there are no known effective treatments for DAWS. For this reason, providers are urged to use dopamine agonists judiciously, warn patients about the risks of DAWS prior to the initiation of dopamine agonist therapy, and follow patients closely for withdrawal symptoms during dopamine agonist taper.

  5. Clinical and Molecular Genetic Features of Autoinflammatory Syndromes in Children

    Directory of Open Access Journals (Sweden)

    Е. I. Alexeeva


    Full Text Available Objective: Our aim was to study the prevalence and clinical features of autoinflammatory syndromes among patients with systemic juvenile idiopathic arthritis. Methods: A prospective nonrandomized study was conducted. All its members have been studied for mutations in TNFRSF1A and NLRP3 genes by the sequencing method. Results: 90 children (27 boys, 63 girls aged from 1 to 17 (average age 8.2 years, with a guide diagnosis: «Systemic juvenile idiopathic arthritis», were examined. As a result, 10 (14% patients showed mutations in TNFRSF1A gene, leading to the development of TRAPS-syndrome (8 had the most common mutation of R92Q; 3 — not previously described mutations in NLRP3 gene. 2 patients had the diagnosis of CINCA/NOMID Syndrome, 1 — Muckle–Wells Syndrome. In three cases, mutations leading to the development of TRAPS-syndromethe were identified in the first line of descent. Classical examples of autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS, and tumor necrosis factor receptor associated periodic syndrome (TRAPS. The data about their pathogenesis, clinical features, diagnosis and treatment is presented. Conclusion: It is shown that early detection and adequate treatment of patients with autoinflammatory syndromes, characterized by severe disease and serious prognosis, is difficult due to lack of awareness of pediatricians and unavailability of genetic diagnosis of these syndromes. The necessity of the development of a universal model of the diagnostic algorithm for identification of autoinflammatory syndromes using next-generation sequencing technologies is grounded. 

  6. Spontaneous esophageal rupture - Boerhaave's syndrome: Clinical symptoms and radiographic findings

    International Nuclear Information System (INIS)

    Gaa, J.; Deininger, H.K.


    Spontaneous transmural rupture of the esophagus (Boerhaave's syndrome) is a life-threatening emergency. Prompt diagnosis is essential to a better prognosis, successful operative outcome and patient survival. The chest roentgenogram and the contrast esophagograms to follow are the most helpful diagnostic tests. The clinical manifestations are variable and may be misleading and thus delay accurate recognition. In our case report the major clinical features and radiological signs of Boerhaave's syndrome are described. The pathogenesis, characteristic clinical symptoms and the signs and radiological evaluation are reviewed. (orig.) [de

  7. Personality Disorders and Clinical Syndromes in ADHD Prisoners (United States)

    Gudjonsson, Gisli H.; Wells, June; Young, Susan


    Objective: The main objective of this article is to investigate the type of personality disorders and clinical syndromes (CSs) that were best related to ADHD symptoms among prisoners. Method: The authors screened for childhood and adult ADHD symptoms and administered the Millon Clinical Multiaxial Inventory-III (MCMI-III) to 196 serving prisoners.…

  8. Mounier-Kuhn syndrome: radiological findings and clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Bastos, Andrea de Lima [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Unidade de Diagnostico por Imagem; Brito, Isabela Lage Alves, E-mail: [Hospital Julia Kubitschek-FHEMIG, Belo Horizonte, MG (Brazil). Dept. de Pneumologia


    Mounier-Kuhn syndrome is a rare disease clinically characterized by recurrent respiratory infections. The present report describes a case of this disease with analysis of chest radiography and high resolution computed tomography showing increased caliber of the trachea, main bronchi and central bronchiectasis. Such changes, in association with clinical data, suggest the diagnosis. (author)

  9. Three cases of Wolfram syndrome with different clinical aspects. (United States)

    Çamtosun, Emine; Şıklar, Zeynep; Kocaay, Pınar; Ceylaner, Serdar; Flanagan, Sarah E; Ellard, Sian; Berberoğlu, Merih


    Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.



    Türkkan, Emine; Berrak, Su Gülsün; Canpolat, Cengiz


    The Beta ((3) thalassemia syndromes are a heterogeneous group of genetic disorders. The frequency of thalassemia is dependent on the ethnic origins of the patient population. Turkey is located in a geographic area of the world where thalassemia syndromes are common. The incidence rate of (3-thalassemia carriers was stated to be 2 per cent in Turkey. Clinical manifestations are diverse and range from asymptomatic hypochromia and microcytosis to profound anemia leading to death in early childho...

  11. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah


    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  12. Clinical Syndromes Associated with Cardiovascular Diseases: A Review

    Directory of Open Access Journals (Sweden)

    Xing Sheng Yang, MD, PhD, FACC, FAHA


    Full Text Available In clinical practice, a variety of syndromes are associated with cardiovascular disease and have characteristic findings. Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities, including electrocardiographic conduction defects, arrhythmias, cardiomyopathy, vascular and valvular diseases, cardiac septal defects, and pulmonary problems. There is a growing need for physicians to pay more attention to these syndromes.

  13. Parkinsonian syndroms: Clinical phenotype, differential diagnosis and disease progression

    International Nuclear Information System (INIS)

    Storch, A.


    Parkinsonian syndromes include idiopathic Parkinson's disease (IPD), other neurodegenerative diseases with parkinsonism, the so-called atypical parkinsonian syndromes, and symptomatic parkinsonian syndromes, such as Wilson's disease. IPD is the most frequent disease with parkinsonism as the main clinical feature and is responsible for approx. 80% of all parkinsonian syndromes. Atypical parkinsonian syndromes are the most important differential diagnoses of IPD. The two most frequent types are multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). For clinical diagnosis it is essential to take a careful medical history and to examine the patients physically in regular intervals. However, various clinico-pathological studies have shown that approx. 25% of patients with clinical diagnosis of IPD may have other causes of parkinsonism. Selected technical investigations, in particular functional imaging of the central dopaminergic system using PET or SPECT, may help to make clinical diagnosis more secure. This paper reviews the clinical features and diagnostic findings in diseases with parkinsonism and summarises the difficulties in establishing early and differential diagnoses. (orig.) [de

  14. Metabolic syndrome: clinical concept and molecular basis. (United States)

    Funahashi, Tohru; Matsuzawa, Yuji


    The metabolic syndrome is a cluster of insulin resistance, elevated blood pressure, and atherogenic dyslipidemia and is a common basis of cardiovascular diseases (CVD). Although the precise mechanism remains to be elucidated, a practical definition is needed. A worldwide definition that considers increased waist circumference as an essential component has been settled. Visceral fat locates upstream of the liver. Free fatty acids and glycerol derived from visceral fat reach the liver and stimulate lipoprotein synthesis and gluconeogenesis, respectively. The adipose tissue produces a variety of bioactive substances conceptualized as 'adipocytokines'. Overproduction of plasminogen activator inhibitor-1 and tumor necrosis factor- seems to relate to the thrombotic and inflammatory tendency. On the other hand, adiponectin, which has antiatherogenic and antidiabetic activities, is reduced in subjects with metabolic syndrome. In Japan, the waist circumference criterion based on visceral fat accumulation has been adopted. The concept of this syndrome has been widely publicized, and health promotion programs based on the concept have commenced in various areas of the country. Such 'Adipo-Do-It' movement is an incentive to encourage physical exercise to reduce visceral fat and is a big challenge to prevent life-style-related diseases and CVD.

  15. Clinical predictors of lacunar syndrome not due to lacunar infarction

    Directory of Open Access Journals (Sweden)

    Comes Emili


    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  16. Joubert syndrome: Clinical manifestations and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Kim, Seung Cheol; Kim, In One; Yoon, Yong Kyu; Yeon, Kyung Mo; Kim, Woo Sun; Song, Jong Gi; Hwang, Yong Seung


    Joubert syndrome presents neonatal respiratory abnormalities and other clinical manifestations. Pathologically the patients show hypoplasia or agenesis of cerebellar vermis and other intracranial anomalies. Our purpose is to evaluate the clinical manifestations and MR findings of Joubert syndrome. Among the patient presenting with clinical stigmata of Joubert syndrome and agenesis of vermis on MR imaging, eight patients who did not satisfied the criteria of Dandy-Walker malformation, tectocerebellar dysraphia and rhombencephalosynapsis were selected. MR findings and clinical manifestation were analyzed. On MR imaging, agenesis of the cerebellar vermis (all cases), hypoplasia of the cerebellar peduncle (6 cases), fourth ventricular contour deformity (6 cases), tentorial elevation (4 caes), deformity of the lateral ventricles (4 cases), dysgenesis of the straight sinus (3 cases) were demonstrated. Other findings were abnormalities of corpus callosum (3 cases), falx anomalies (3 case), occipital encephalomeningocele (2 cases) and fluid collection in posterior cranial fossa (2 cases). Clinical manifestations were developmental delay (5 cases), abnormal eyeball movement (3 cases), hypotonia (2 cases), neonatal respiratory abnormality (2 cases), etc. Joubert syndrome showed various clinical manifestations and intracranial anomalies. MR imaging is an useful modality in detection of the cerebellar vermian agenesis and other anomalies of the patients

  17. Novel Implications in Molecular Diagnosis of Lynch Syndrome

    Directory of Open Access Journals (Sweden)

    Raffaella Liccardo


    Full Text Available About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP and Lynch syndrome (LS. In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. In some cases, these VUSs may make a more substantial overall contribution to cancer risk than the well-assessed severe Mendelian variants. Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. In this paper, through a review of the recent literature, we have speculated a novel inheritance model in the Lynch syndrome; this could pave the way toward new diagnostic perspectives.

  18. Frank-ter Haar syndrome with unusual clinical features. (United States)

    Dundar, Munis; Saatci, Cetin; Tasdemir, Sener; Akcakus, Mustafa; Caglayan, Ahmet Okay; Ozkul, Yusuf


    Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M.B. Katznelson, B. Cohen, R.M. Goodman, Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?, J. Genet. Hum. 21 (1973) 67-72.] and subsequently confirmed by ter Haar et al. [B. Ter Haar, B. Hamel, J. Hendriks, J. de Jager, Melnick-Needles syndrome: indication for an autosomal recessive form, Am. J. Med. Genet. 13 (1982) 469-477.]. The main clinical features of the syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macro cornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers [S.M. Maas, H. Kayserili, J. Lam, M.Y. Apak, R.C. Hennekam, Further delineation of Frank-ter Haar syndrome, Am. J. Med. Genet. 131 (2004) 127-133.]. We report a child with Frank-ter Haar syndrome presenting unusual clinical features. Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle.

  19. Mallory-Weiss syndrome. A changing clinical picture. (United States)

    Todd, G J; Zikria, B A


    A retrospective study of 18 episodes of upper gastrointestinal (UGI) bleeding secondary to Mallory-Weiss syndrome occuring in 16 patients is presented. Reported cases published since 1969 have been summarized and compared with earlier collected series. It is evident that the clinical spectrum, prognosis, and opinion regarding etiology and treatment of the syndrome have changed in the last decade. Increased awareness of gastroesophageal lacerations secondary to emesis as well as other causes of significantly increased intraesophagogastric pressures, and widespread utilization of fiberoptic endoscopy have resulted in identification of Mallory-Weiss syndrome with increasing frequency. Less severe lacerations which are healing with medical therapy are being recognized. It is recommended that endoscopy by performed in all cases of UGI hemorrhage and that patients with Mallory-Weiss syndrome be managed medically unless hemorrhage is massive or persistent since nearly three of four patients can be successfully treated without operation. PMID:302109

  20. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra


    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

  1. [Wolfram syndrome: clinical features, molecular genetics of WFS1 gene]. (United States)

    Tanabe, Katsuya; Matsunaga, Kimie; Hatanaka, Masayuki; Akiyama, Masaru; Tanizawa, Yukio


    Wolfram syndrome(WFS: OMIM 222300) is a rare recessive neuro-endocrine degenerative disorder, known as DIDMOAD(Diabetes Insipidus, early-onset Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. Most affected individuals carry recessive mutations in the Wolfram syndrome 1 gene(WFS1). The WFS1 protein is an endoplasmic reticulum(ER) embedded protein, which functions in ER calcium homeostasis and unfolded protein responses. Dysregulation of these cellular processes results in the development of ER stress, leading to apoptosis. In addition, abundantly present WFS1 protein in insulin secretory granules plays a role in the intra-granular acidification. However, the phenotypic pleiomorphism and molecular complexity of this disease limit the understanding of WFS. Here we review clinical features, molecular mechanisms and mutations of WFS1 gene that relate to this syndrome.

  2. Associations Among the MCMI-II Clinical Syndrome Scales and the MMPI-2 Clinical Scales. (United States)

    Blais, Mark A.; And Others


    The relationship among the nine clinical syndrome scales of the Millon Clinical Multiaxial Inventory-II (MCMI-II) and clinical scales of the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) was studied with 108 psychiatric inpatients. Results indicate convergent validity of only the MCMI-II Axis I scales. (SLD)

  3. A new course in the clinical pathways for metabolic syndrome

    International Nuclear Information System (INIS)

    Kageyama, Shoko; Wada, Yumi; Nakamura, Rie


    Metabolic syndrome is consisted with multiple risk factors such as diabetes, dyslipidemia, and hypertension based on visceral fat accumulation, for the development of arteriosclerosis. We present, here, a clinical pathway for education of patients with metabolic syndrome. The program contains an adequate explanation of the high risk for arteriosclerosis to the patients, the measurement of visceral fat content by computed tomography, and several clinical examinations for the evaluation of arteriosclerotic lesions. We have presented this program on the ward of diabetes center in our hospital for patients diagnosed as having metabolic syndrome. Because the focus of education is to clarify understanding of the harmful effects of visceral fat and the benefits of its reduction, it might be a valuable tool to motivate and empower the patient and improve the patient's lifestyle. (author)

  4. [Miller Fisher's syndrome. Clinical and experimental contribution]. (United States)

    Trebini, F; Appiotti, A; Scarzella, G


    A 19-year-old patient with acute idiopathic polyneuritis is described. Clinically, apart from ophthalmoplegia, areflexia and ataxia, the patient presented a serious bilateral and symmetrical deficiency of the VII-IX-X cranial nerve and hypanapallesthesia of trunk and extremities. Liquor examination showed albumino-cytological dissociation with an increase in liquor IgG; encephalic CT and encephalo-medullary NMR were normal; a neurophysiological study (EMG, PEV, BAER) was indicative of the PNS problems. Combined corticosteroid and plasmaferesis treatment produced complete clinical remission after about 3 months. The primary role of PNS involvement in this clinical entity is discussed.

  5. Clinical Implications of HIV-1 Minority Variants


    Li, Jonathan Z.; Kuritzkes, Daniel R.


    Low-frequency HIV variants are increasingly recognized as a key factor that increases the risk of HIV treatment failure. This article will provide a review of HIV minority variants, including their demonstrated clinical impact and areas of controversy.

  6. Anatomic Characteristics and Clinical Implications of Angiographic Coronary Thrombus

    NARCIS (Netherlands)

    C.A.M. Campos (Carlos); F. Costa (Francesco); H.M. Garcia-Garcia (Hector); C.V. Bourantas (Christos); P. Suwannasom (Pannipa); M. Valgimigli (Marco); M-A.M. Morel (Marie-Angèle); S.W. Windecker (Stephan); P.W.J.C. Serruys (Patrick)


    textabstractBackground - The distribution of thrombus-containing lesions (TCLs) in an all-comer population admitted with a heterogeneous clinical presentation (stable, ustable angina, or an acute coronary syndrome) and treated with percutaneous coronary intervention is yet unclear, and the long-term

  7. Chronic Fatigue Syndrome in Adolescents: treatment, clinical features and epidemiology

    NARCIS (Netherlands)

    Nijhof, S.L.


    This thesis describes the treatment, epidemiology and clinical features of the adolescent chronic fatigue syndrome (CFS). Fatigue is a common complaint among adolescents, with a reported incidence of up to 20% in girls. This fatigue however is not chronic, does not debilitate and has an identifiable

  8. Clinical aspects and prognosis of Brugada syndrome in children

    NARCIS (Netherlands)

    Probst, Vincent; Denjoy, Isabelle; Meregalli, Paola G.; Amirault, Jean-Christophe; Sacher, Frederic; Mansourati, Jacques; Babuty, Dominique; Villain, Elisabeth; Victor, Jacques; Schott, Jean-Jacques; Lupoglazoff, Jean-Marc; Mabo, Philippe; Veltmann, Christian; Jesel, Laurence; Chevalier, Philippe; Clur, Sally-Ann B.; Haissaguerre, Michel; Wolpert, Christian; Le Marec, Herve; Wilde, Arthur A. M.


    BACKGROUND: Brugada syndrome is an arrhythmogenic disease characterized by an ECG pattern of ST-segment elevation in the right precordial leads and augmented risk of sudden cardiac death. Little is known about the clinical presentation and prognosis of this disease in children. METHODS AND RESULTS:

  9. Clinical symptoms of sleep apnea syndrome and automobile accidents

    DEFF Research Database (Denmark)

    Haraldsson, P O; Carenfelt, C; Diderichsen, Finn


    Patients with clinical features of sleep apnea syndrome (SAS) and self-reported sleep spells at the wheel do poorly in simulated monotonous driving. To evaluate whether drivers with defined symptoms of SAS (heavy snoring, sleep disturbances and daytime sleepiness) compensate in real traffic by ca...

  10. 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.


    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

  11. Clinical Aspects of Type 3 Long-QT Syndrome

    DEFF Research Database (Denmark)

    Wilde, Arthur A M; Moss, Arthur J; Kaufman, Elizabeth S


    BACKGROUND: -Risk stratification in patients with type 3 long QT syndrome (LQT3) by clinical and genetic characteristics and effectiveness of ß-blocker therapy have not been studied previously in a large LQT3 population. METHODS: -The study population included 406 LQT3 patients with 51 different...

  12. Clinical and molecular phenotype of Aicardi-Goutieres syndrome

    NARCIS (Netherlands)

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A.; Barroso, Bruno; Baxter, Peter; Benko, Willam S.; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M.; Blau, Nenad; Bonthron, David T.; Briggs, Tracy; Brueton, Louise A.; Brunner, Han G.; Burke, Christopher J.; Carr, Ian M.; Carvalho, Daniel R.; Chandler, Kate E.; Christen, Hans-Jurgen; Corry, Peter C.; Cowan, Frances M.; Cox, Helen; D'Arrigo, Stefano; Dean, John; de Laet, Corinne; de Praeter, Claudine; Dery, Catherine; Ferrie, Colin D.; Flintoff, Kim; Frints, Suzanna G. M.; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J.; Guet, Agnes; Hamel, Ben C. J.; Hayward, Bruce E.; Heiberg, Arvid; Hennekam, Raoul C.; Husson, Marie; Jackson, Andrew P.; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G.; Kao, Amy; King, Mary D.; Kingston, Helen M.; Klepper, Joerg; van der Knaap, Marjo S.; Kornberg, Andrew J.; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J.; Livingston, John H.; Lourenco, Charles M.; Lyall, E. G. Hermione; Lynch, Sally A.; Lyons, Michael J.; Marom, Daphna; McClure, John P.; McWilliam, Robert; Melancon, Serge B.; Mewasingh, Leena D.; Moutard, Marie-Laure; Nischal, Ken K.; Ostergaard, John R.; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R. Curtis; Roland, Dominique; Rosser, Elisabeth M.; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A.; Corcoles, C. Sierra; Sinha, Gyan P.; Soler, Doriette; Spiegel, Ronen; Stephenson, John B. P.; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L.; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; van Coster, Rudy N. A.; van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S. H.; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L.; Willemsen, Michel A. A.; Zankl, Andreas; Zuberi, Sameer M.; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J.


    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease

  13. Metabolic Syndrome in Patients attending the Staff Clinic of a ...

    African Journals Online (AJOL)

    Background/objective: Metabolic syndrome (MetS) is characterised by a clustering of cardiometabolic risk factors. It contributes to morbidity and mortality in adults. The objective of the study was to identify new cases and associated factors of MetS in patients attending a tertiary hospital staff clinic. Materials and methods: The ...

  14. Silent angels the genetic and clinical aspects of Rett syndrome

    Directory of Open Access Journals (Sweden)

    Dziwota Ewelina


    Full Text Available Rett syndrome is a neurodevelopmental genetic disorder and, because of some behavioral characteristics, individuals affected by the disease are known as silent angels. Girls with Rett syndrome perform stereotyped movements, they have learning difficulties, their reaction time is prolonged, and they seem alienated in the environment. These children require constant pediatric, neurological and orthopedic care. In the treatment of Rett syndrome physical therapy, music therapy, hydrotherapy, hippotherapy, behavioral methods, speech therapy and diet, are also used. In turn, psychological therapy of the syndrome is based on the sensory integration method, using two or more senses simultaneously. In 80% of cases, the syndrome is related to mutations of the MECP2 gene, located on chromosome X. The pathogenesis of Rett syndrome is caused by the occurrence of a non-functional MeCP2 protein, which is a transcription factor of many genes, i.e. Bdnf, mef2c, Sgk1, Uqcrc1. Abnormal expression of these genes reveals a characteristic disease phenotype. Clinical symptoms relate mainly to the nervous, respiratory, skeletal and gastrointestinal systems. Currently causal treatment is not possible. However, researchers are developing methods by which, perhaps in the near future, it will be possible to eliminate the mutations in the MECP2 gene, and this will give a chance to the patient for normal functioning.

  15. Conversion from clinically isolated syndrome to multiple sclerosis

    DEFF Research Database (Denmark)

    Kuhle, J; Disanto, G; Dobson, R


    BACKGROUND AND OBJECTIVE: We explored which clinical and biochemical variables predict conversion from clinically isolated syndrome (CIS) to clinically definite multiple sclerosis (CDMS) in a large international cohort. METHODS: Thirty-three centres provided serum samples from 1047 CIS cases...... with at least two years' follow-up. Age, sex, clinical presentation, T2-hyperintense lesions, cerebrospinal fluid (CSF) oligoclonal bands (OCBs), CSF IgG index, CSF cell count, serum 25-hydroxyvitamin D3 (25-OH-D), cotinine and IgG titres against Epstein-Barr nuclear antigen 1 (EBNA-1) and cytomegalovirus were...

  16. ESWT for tendinopathy: technology and clinical implications. (United States)

    van der Worp, Henk; van den Akker-Scheek, Inge; van Schie, Hans; Zwerver, Johannes


    The general consensus that tendinopathy, at least in the chronic stage, is mainly a degenerative condition and inflammation plays a minor role has led to a shift from treatments that target inflammation towards treatment options that promote regeneration. One of these treatments is extracorporeal shockwave therapy (ESWT), a physical therapy modality that uses pressure waves to treat tendinopathy. This review was undertaken to give an overview of the literature concerning this treatment, and special attention is given to the differences between focused and radial ESWT. A narrative description of wave characteristics, generation methods and in vitro effects of ESWT is given. The literature on ESWT as a treatment for one common tendinopathy, patellar tendinopathy, was systematically reviewed. Waves that are generated for focused and radial ESWT have very different physical characteristics. It is unclear how these characteristics are related to clinical effectiveness. Studies into the biological effects of ESWT have mainly used focused shockwave therapy, showing a number of effects of shockwaves on biological tissue. The systematic review of studies into the clinical effects of ESWT for patellar tendinopathy showed conflicting evidence for its effectiveness. Physical characteristics of focused and radial waves differ substantially, but effect on clinical effectiveness is unclear. Whereas in vitro studies often show the effects of ESWT on tendon tissue, results of clinical studies are inconsistent. Based on the review of the literature, suggestions are given for the use of ESWT in clinical practice regarding timing and treatment parameters.

  17. Pathophysiology and Japanese clinical characteristics in Marfan syndrome. (United States)

    Fujita, Daishi; Takeda, Norifumi; Imai, Yasushi; Inuzuka, Ryo; Komuro, Issei; Hirata, Yasunobu


    Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue, caused by mutations of the gene FBN1, which encodes fibrillin-1, a major component of the microfibrils of the extracellular matrix. Fibrillin-1 interacts with transforming growth factor-β (TGF-β), and dysregulated TGF-β signaling plays a major role in the development of connective tissue disease and familial aortic aneurysm and dissection, including Marfan syndrome. Losartan, an angiotensin II blocker, has the potential to reduce TGF-β signaling and is expected to be an additional therapeutic option. Clinical diagnosis is made using the Ghent nosology, which requires comprehensive patient assessment and has been proven to work well, but evaluation of some of the diagnostic criteria by a single physician is difficult and time-consuming. A Marfan clinic was established at the University of Tokyo Hospital in 2005, together with cardiologists, cardiac surgeons, pediatricians, orthopedists, and ophthalmologists in one place, for the purpose of speedy and accurate evaluation and diagnosis of Marfan syndrome. In this review, we discuss the recent progress in diagnosis and treatment of Marfan syndrome, and the characteristics of Japanese patients with Marfan syndrome. © 2014 Japan Pediatric Society.

  18. Thromboembolic complications in childhood nephrotic syndrome: a clinical profile. (United States)

    Suri, Deepti; Ahluwalia, Jasmina; Saxena, Akshay K; Sodhi, Kushaljit S; Singh, Paramjeet; Mittal, Bhagwant R; Das, Reena; Rawat, Amit; Singh, Surjit


    Thromboembolism is a rare life-threatening complication of childhood nephrotic syndrome. We present the clinical profile and outcome of 34 children with 35 events of thromboembolic complications with nephrotic syndrome. Cerebral venous thrombosis (CVT) was the commonest complication seen in 11 (31.4 %) children followed by pulmonary thromboembolism and deep venous thrombosis in 9 (25.7 %) and 6 (16.6 %) children, respectively. Arterial thrombosis resulting in central nervous system infarcts was observed in 7 (20 %) children and 2 children had thrombosis of the peripheral arteries. Episodes were equal in steroid-resistant nephrotic syndrome and steroid-dependent nephrotic syndrome groups. Most of the thromboembolic complications occurred with relapse but 11.4 % of children developed intracranial thrombosis during remission. The most sensitive symptom of CVT was persistent headache while unexplained respiratory distress and hypoxemia pointed towards pulmonary thromboembolism. Hypoalbuminemia was seen in 82.8 % of children, while concurrent infection was seen in 31.4 %. Coexistence of genetic prothrombotic condition was identified and merits evaluation. Early heparin therapy followed by oral anticoagulants resulted in complete recovery in 91.1 % of children. Death occurred in 3 (8.5 %) children and autopsy revealed pulmonary thromboembolism in 2 children. Venous and arterial thrombotic complications can occur in children with nephrotic syndrome. A high index of suspicion is required as the clinical features may be subtle. Neuroimaging and angiographic techniques help in confirming diagnosis. Early aggressive heparin therapy followed by oral anticoagulants is necessary for a favorable outcome.

  19. Automated syndrome detection in a set of clinical facial photographs. (United States)

    Boehringer, Stefan; Guenther, Manuel; Sinigerova, Stella; Wurtz, Rolf P; Horsthemke, Bernhard; Wieczorek, Dagmar


    Computer systems play an important role in clinical genetics and are a routine part of finding clinical diagnoses but make it difficult to fully exploit information derived from facial appearance. So far, automated syndrome diagnosis based on digital, facial photographs has been demonstrated under study conditions but has not been applied in clinical practice. We have therefore investigated how well statistical classifiers trained on study data comprising 202 individuals affected by one of 14 syndromes could classify a set of 91 patients for whom pictures were taken under regular, less controlled conditions in clinical practice. We found a classification accuracy of 21% percent in the clinical sample representing a ratio of 3.0 over a random choice. This contrasts with a 60% accuracy or 8.5 ratio in the training data. Producing average images in both groups from sets of pictures for each syndrome demonstrates that the groups exhibit large phenotypic differences explaining discrepancies in accuracy. A broadening of the data set is suggested in order to improve accuracy in clinical practice. In order to further this goal, a software package is made available that allows application of the procedures and contributions toward an improved data set. Copyright © 2011 Wiley-Liss, Inc.

  20. Drug-induced Brugada syndrome: Clinical characteristics and risk factors. (United States)

    Konigstein, Maayan; Rosso, Raphael; Topaz, Guy; Postema, Pieter G; Friedensohn, Limor; Heller, Karin; Zeltser, David; Belhassen, Bernard; Adler, Arnon; Viskin, Sami


    Cardiac arrest may result from seemingly innocuous medications that do not necessarily have cardiac indications. The best-known example is the drug-induced long QT syndrome. A less known but not necessarily less important form of drug-induced proarrhythmia is the drug-induced Brugada syndrome. The purpose of this study was to identify clinical and ECG risk markers for drug-induced Brugada syndrome. Reports of drug-induced Brugada syndrome recounted by an international database ( were reviewed to define characteristics that identify patients prone to developing this complication. For each patient with drug-induced Brugada syndrome who had an ECG recorded in the absence of drugs, we included 5 healthy controls matched by gender and age. All ECGs were evaluated for Brugada-like abnormalities. Seventy-four cases of drug-induced Brugada syndrome from noncardiac medications were identified: 77% were male, and drug toxicity was involved in 46%. Drug-induced Brugada syndrome from oral medications generally occurred weeks after the initiation of therapy. Mortality was 13%. By definition, all cases had a type I Brugada pattern during drug therapy. Nevertheless, their ECG in the absence of drugs was more frequently abnormal than the ECG of controls (56% vs 33%, P = .04). Drug-induced Brugada syndrome from noncardiac drugs occurs predominantly in adult males, is frequently due to drug toxicity, and occurs late after the onset of therapy. Minor changes are frequently noticeable on baseline ECG, but screening is impractical because of a prohibitive false-positive rate. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  1. The Architecture of the Pollen Hoarding Syndrome in Honey Bees: Implications for Understanding Social Evolution, Behavioral Syndromes, and Selective Breeding. (United States)

    Rueppell, Olav


    Social evolution has influenced every aspect of contemporary honey bee biology, but the details are difficult to reconstruct. The reproductive ground plan hypothesis of social evolution proposes that central regulators of the gonotropic cycle of solitary insects have been coopted to coordinate social complexity in honey bees, such as the division of labor among workers. The predicted trait associations between reproductive physiology and social behavior have been identified in the context of the pollen hoarding syndrome, a larger suite of interrelated traits. The genetic architecture of this syndrome is characterized by a partially overlapping genetic architecture with several consistent, pleiotropic QTL. Despite these central QTL and an integrated hormonal regulation, separate aspects of the pollen hoarding syndrome may evolve independently due to peripheral QTL and additionally segregating genetic variance. The characterization of the pollen hoarding syndrome has also demonstrated that this syndrome involves many non-behavioral traits, which may be the case for numerous "behavioral" syndromes. Furthermore, the genetic architecture of the pollen hoarding syndrome has implications for breeding programs for improving honey health and other desirable traits: If these traits are comparable to the pollen hoarding syndrome, consistent pleiotropic QTL will enable marker assisted selection, while sufficient additional genetic variation may permit the dissociation of trade-offs for efficient multiple trait selection.

  2. Clinical implications of advances in liver regeneration

    Directory of Open Access Journals (Sweden)

    Yong Jin Kwon


    Full Text Available Remarkable advances have been made recently in the area of liver regeneration. Even though liver regeneration after liver resection has been widely researched, new clinical applications have provided a better understanding of the process. Hepatic damage induces a process of regeneration that rarely occurs in normal undamaged liver. Many studies have concentrated on the mechanism of hepatocyte regeneration following liver damage. High mortality is usual in patients with terminal liver failure. Patients die when the regenerative process is unable to balance loss due to liver damage. During disease progression, cellular adaptations take place and the organ microenvironment changes. Portal vein embolization and the associating liver partition and portal vein ligation for staged hepatectomy are relatively recent techniques exploiting the remarkable progress in understanding liver regeneration. Living donor liver transplantation is one of the most significant clinical outcomes of research on liver regeneration. Another major clinical field involving liver regeneration is cell therapy using adult stem cells. The aim of this article is to provide an outline of the clinical approaches being undertaken to examine regeneration in liver diseases.

  3. Clinical, radiological and imunogenectical study in patients with Reiter's Syndrome

    International Nuclear Information System (INIS)

    Souza Meirelles, E. de.


    This study puspose was to investigate the clinical, radiological and immunogenetical parameters from a brazilian Reiter's Syndrome population. Twenty Reiter's Syndrome patients from ''Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo'' were prospectivelly studied in their demographical (sex, race, age at study, age at disease onset and disease duration), epidemiological (family history), clinical (general, articular, mucocutaneous, genitourinary, ocular and intestinal manifestations besides functional capacity at study), radiological (sacro-iliitis, spondylitis and calcaneal spur) and immunogenetical (HLA loci A, B and DR typing). The technique employed in the 61 aloantigens from loci HLA A (17), B (34) and DR (10) typing was Terasaki microlymphocitotoxicity modified by Danilovs, had being performed in the ''Laboratorio de Imunogenetica da Faculdade de Medicina da Universidade de Sao Paulo''. We concluded that the clinical, radiological and immunogenetical Reiter's Syndrome expression in the brazilian population is similar to the others north american or european already studied populations and that the probability of one brazilian HLA B27 positie individual to develop Reiter's Syndrome is 19 fold larger when compared to one brazilian HLA B27 negative individual. (author) [pt

  4. Clinical characteristics of polycystic ovary syndrome: investigating differences in White and South Asian women. (United States)

    Mani, Hamidreza; Davies, Melanie J; Bodicoat, Danielle H; Levy, Miles J; Gray, Laura J; Howlett, Trevor A; Khunti, Kamlesh


    To understand the phenotypic presentation of women with polycystic ovary syndrome (PCOS) of different ethnicities and at different ages. Cross-sectional, retrospective data analysis (1988 - 2009). Specialist clinic in a University Hospital, Leicestershire, UK. Women with PCOS, n = 1310 (mean age 26·2 years), 70·9% White and 29·1% South Asian (SA) attending a speciality clinic in Leicester UK. Clinical and demographic characteristics of women with PCOS including age at first clinic appointment, signs and symptoms, body mass index (BMI) and blood pressure (BP). Compared to White women, the SA were younger (24·3 vs 27·1 years, P women with PCOS appear to be significantly different depending on ethnicity, obesity and age. This has implications for management strategies in these groups. © 2015 John Wiley & Sons Ltd.

  5. Clinical and nutritional implications of radiation enteritis

    Energy Technology Data Exchange (ETDEWEB)

    Beer, W.H.; Fan, A.; Halsted, C.H.


    The clinical and nutritional significance of radiation enteritis was assessed in eight patients with chronic diarrhea which followed curative doses of radiotherapy for pelvic malignancies. Steatorrhea, found in seven malnourished patients, was ascribed to ileal disease or previous surgery, or to bacterial contamination of the small intestine. Lactose intolerance, assessed by breath hydrogen excretion after oral lactose and by jejunal lactase levels, was found in six patients. In a subgroup of five patients, the administration of two different defined formula liquid diets by nasoduodenal infusion decreased fecal fluid and energy losses by about one-half. Compared to Vivonex-HN, the infusion of Criticare-HN was associated with greater likelihood of intestinal gas production but a three-fold greater utilization of protein. Intestinal malabsorption and malnutrition in radiation enteritis has diverse etiologies. Whereas nutritional support by liquid diet limits fecal fluid and energy losses, these diets differ significantly in clinical tolerance and biologic value.

  6. Diabetic cardiovascular autonomic neuropathy: clinical implications. (United States)

    Karayannis, Georgios; Giamouzis, Gregory; Cokkinos, Dennis V; Skoularigis, John; Triposkiadis, Filippos


    Diabetic cardiovascular autonomic neuropathy (DCAN), the impairment of the autonomic balance of the cardiovascular system in the setting of diabetes mellitus (DM), is frequently observed in both Type 1 and 2 DM, has detrimental effects on the quality of life and portends increased mortality. Clinical manifestations include: resting heart rate disorders, exercise intolerance, intraoperative cardiovascular lability, orthostatic alterations in heart rate and blood pressure, QT-interval prolongation, abnormal diurnal and nocturnal blood pressure variation, silent myocardial ischemia and diabetic cardiomyopathy. Clinical tests for autonomic nervous system evaluation, heart rate variability analysis, autonomic innervation imaging techniques, microneurography and baroreflex analysis are the main diagnostic tools for DCAN detection. Aldose reductase inhibitors and antioxidants may be helpful in DCAN therapy, but a regular, more generalized and multifactorial approach should be adopted with inclusion of lifestyle modifications, strict glycemic control and treatment of concomitant traditional cardiovascular risk factors, in order to achieve the best therapeutic results. In the present review, the authors provide aspects of DCAN pathophysiology, clinical presentation, diagnosis and an algorithm regarding the evaluation and management of DCAN in DM patients.

  7. Clinical manifestations and clinical syndromes of Filipino patients with systemic lupus erythematosus. (United States)

    Villamin, Charles A C; Navarra, Sandra V


    The aim of this study was to describe the presenting clinical manifestations and syndromes of Filipino patients on diagnosis of systemic lupus erythematosus (SLE). We performed a retrospective review of medical records of Filipino SLE patients included in the lupus database of the University of Santo Tomas (UST) in Manila, Philippines. All patients fulfilled the American College of Rheumatology criteria for SLE. The following data were recorded: (1) demographic profile, (2) clinical manifestations on SLE diagnosis, and (3) clinical syndromes prior to and during fulfillment of diagnostic criteria for SLE and disease interval from diagnosis of a clinical syndrome to SLE diagnosis. Clinical data of 1,070 patients entered into the UST lupus database as of October 2005 were analyzed. The average age at SLE diagnosis was 28.5 +/- 11.5 (range 5-71) years, with 1,025 female and 45 male subjects. The most common presenting manifestation was arthritis (68%), followed by malar rash (49%), renal involvement (47%), photosensitivity (33%), and oral ulcers (33%). The following clinical syndromes were recorded prior to or during SLE diagnosis: nephrotic syndrome (30%), undifferentiated connective tissue disease (UCTD) (22%), autoimmune hemolytic anemia (AIHA) (6%), and idiopathic thrombocytopenic purpura (ITP) (6%). Among these, AIHA preceded the diagnosis of SLE at the longest interval (20.3 +/- 30.6, range 1-194 months). In this large database of Filipino patients with SLE, the most common presenting manifestation was arthritis, with renal involvement occurring in almost 50%. Among the clinical syndromes, nephrotic syndrome was the most common, whereas AIHA recorded the longest interval preceding SLE diagnosis, at an average of 20.3 months. Our findings are similar to data from other countries and emphasize the broad range of manifestations of SLE. The findings also reinforce the need to establish and maintain SLE databases to enhance awareness, early diagnosis, and more

  8. Biological behaviour and clinical implications of micrometastases.

    LENUS (Irish Health Repository)

    Kell, M R


    BACKGROUND: The most important prognostic determinant in cancer is the identification of disseminated tumour burden (metastases). Micrometastases are microscopic (smaller than 2 mm) deposits of malignant cells that are segregated spatially from the primary tumour and depend on neovascular formation (angiogenesis) to propagate. METHODS: The electronic literature (1966 to present) on micrometastases and their implications in malignant melanoma and epithelial cancers was reviewed. RESULTS: Immunohistochemical techniques combined with serial sectioning offer the best accuracy for detection of nodal micrometastases. Molecular techniques should be reserved for blood samples or bone marrow aspirates. Detection of micrometastases in regional lymph nodes and\\/or bone marrow confers a poor prognosis in epithelial cancers. The concept of sentinel node biopsy combined with serial sectioning and dedicated screening for micrometastases may improve staging procedures. Strategies against angiogenesis may provide novel therapies to induce and maintain micrometastatic dormancy. CONCLUSION: The concept of micrometastases has resulted in a paradigm shift in the staging of epithelial tumours and our overall understanding of malignant processes.

  9. Pharmacogenetic tests for antipsychotic medications: clinical implications and considerations (United States)

    Eum, Seenae; Lee, Adam M.; Bishop, Jeffrey R.


    Optimizing antipsychotic pharmacotherapy is often challenging due to significant variability in effectiveness and tolerability. Genetic factors influencing pharmacokinetics and pharmacodynamics may contribute to some of this variability. Research studies have characterized these pharmacogenetic relationships, and some genetic markers are now available as clinical tests. These advances in pharmacogenetics research and test availability have great potential to improve clinical outcomes and quality of life in psychiatric patients. For clinicians considering using pharmacogenetics, it is important to understand the clinical implications and also the limitations of markers included in currently available tests. This review focuses on pharmacokinetic and pharmacodynamic gene variants that are currently available in commercial genetic testing panels. Associations of these variants with clinical efficacy and adverse effects, as well as other clinical implications, in antipsychotic pharmacotherapy are discussed. PMID:27757066

  10. [Cardio-renal axis: pathophysiological evidences and clinical implications]. (United States)

    Di Lullo, Luca; Ronco, Claudio


    According to the recent definition proposed by the Consensus conference on Acute Dialysis Quality Initiative Group, the term cardio-renal syndrome CRS has been used to define different clinical conditions in which heart and kidney dysfunction overlap. Type 1 CRS acute cardio - renal syndrome is characterized by acute worsening of cardiac function leading to AKI in the setting of active cardiac disease such as ADHF, while type - 2 CRS occurs in a setting of chronic heart disease. Type 3 CRS is closely link to acute kidney injury, while type 4 represent cardiovascular involvement in chronic kidney disese patients. Type 5 CRS represent cardiac and renal involvement in several diseases such as sepsis, hepato - renal syndrome and immune - mediated diseases. Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

  11. Multiple drug intolerance syndrome: prevalence, clinical characteristics, and management. (United States)

    Macy, Eric; Ho, Ngoc J


    Population-based data on the demographics and clinical characteristics of patients with multiple unrelated drug class intolerances noted in their medical records are lacking. To provide population-based drug "allergy" incidence rates and prevalence, and to identify individuals with multiple drug intolerance syndrome (MDIS) defined by 3 or more unrelated drug class "allergies," and to provide demographic and clinical information on MDIS cases. Electronic medical record data from 2,375,424 Kaiser Permanente Southern California health plan members who had a health care visit and at least 11 months of health care coverage during 2009 were reviewed. Population-based drug "allergy" incidence rates and prevalence were determined for 23 unrelated medication classes. On January 1, 2009, 478,283 (20.1%) health plan members had at least one reported "allergy." Individuals with a history of at least 1 "allergy" and females, in general, reported higher population-based new "allergy" incidence rates. Multiple drug intolerance syndrome was present in 49,582 (2.1%). The MDIS cases were significantly older, 62.4 ± 16.1 years; heavier, body mass index 29.3 ± 7.1; and likely to be female, 84.9%, compared with average health plan members. They had high rates of health care utilization, medication usage, and new drug "allergy" incidence. They sought medical attention for common nonmorbid conditions. Multiple drug intolerance syndrome is in part iatrogenic. It is associated with overweight elderly women who have high rates of health care and medication usage. Urticarial syndromes only explain a small fraction of MDIS cases. Multiple drug intolerance syndrome is associated with anxiety, but not predominately with immunoglobulin E (IgE)-mediated allergy or life-threatening illness. Multiple drug intolerance syndrome can be managed by medication avoidance and judicious rechallenge. Copyright © 2012 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights

  12. Restless legs syndrome in post-polio syndrome: a series of 10 patients with demographic, clinical and laboratorial findings. (United States)

    Marin, Luis F; Carvalho, Luciane B C; Prado, Lucila B F; Quadros, Abrahao A J; Oliveira, Acary S; Prado, Gilmar F


    Few studies have described the occurrence of restless legs syndrome in post-polio syndrome. We studied 10 consecutive patients with post-polio syndrome and symptoms of restless legs syndrome. We look at demographic, clinical and laboratorial data. A remarkable finding was the concomitant onset of symptoms of both diseases, suggesting a possible underlying mechanism. Severity of restless legs symptoms was moderate to very severe. Epidemiological studies with larger samples are needed to better establish the relationship and the incidence of restless legs syndrome in post-polio syndrome. Copyright © 2011 Elsevier Ltd. All rights reserved.

  13. Clinical Understanding of Spasticity: Implications for Practice

    Directory of Open Access Journals (Sweden)

    Rozina Bhimani


    Full Text Available Spasticity is a poorly understood phenomenon. The aim of this paper is to understand the effect of spasticity on daily life and identify bedside strategies that enhance patient’s function and improve comfort. Spasticity and clonus result from an upper motor neuron lesion that disinhibits the tendon stretch reflex; however, they are differentiated in the fact that spasticity results in a velocity dependent tightness of muscle whereas clonus results in uncontrollable jerks of the muscle. Clinical strategies that address function and comfort are paramount. This is a secondary content analysis using a qualitative research design. Adults experiencing spasticity associated with neuromuscular disorder were asked to participate during inpatient acute rehabilitation. They were asked to complete a semistructured interview to explain and describe the nature of their experienced spasticity on daily basis. Spasticity affects activities of daily living, function, and mobility. Undertreated spasticity can lead to pain, immobility, and risk of falls. There were missed opportunities to adequately care for patients with spasticity. Bedside care strategies identified by patients with spasticity are outlined. Uses of alternative therapies in conjunction with medications are needed to better manage spasticity. Patient reports on spasticity are important and should be part of clinical evaluation and practice.

  14. Clinical profile of patients with fibromyalgia syndrome

    Directory of Open Access Journals (Sweden)

    Andrei Pereira Pernambuco

    Full Text Available Abstract Introduction: The new diagnostic criteria for fibromyalgia (FM include the presence of chronic, widespread pain associated with other symptoms such as fatigue, sleep disturbance, anxiety and depression. All these symptoms should be considered when thinking and clinical decision making of physiotherapists dealing with FM. However, it is clear that the other symptoms that accompany the pain are often neglected. Objective: To measure the levels of fatigue, sleep disturbances, anxiety and depression in patients with FM and compare them to levels found in healthy controls. Methods: Forty-six women diagnosed with FM and 30 healthy controls participated in the study. The levels of each of the symptoms were assessed by four validated questionnaires in Brazil (Piper Fatigue Scale - Revised, Pittsburgh Sleep Quality Index, Beck Anxiety Inventory and the Beck Depression Inventory. Statistical analysis was performed using GraphPad Prism software and all tests used a significance level of 5% (α = 0.05. Results: FM patients had significantly elevated levels of fatigue (p = 0.0005, sleep disturbances (p = 0.003, anxiety (p = 0.0012 and depression (p = 0.0003 compared to healthy controls. Symptoms fatigue and depression correlated strongly and positively with one another and with other symptoms evaluated. Conclusion: The other symptoms that comprise the clinical picture of FM need be considered not only in order to recover the health of patients, but above all in an attempt to preserve it and promote it.

  15. Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials. (United States)

    Braat, Sien; Kooy, R Frank


    An increasing number of studies implicate the GABAAergic system in the pathophysiology of the fragile X syndrome, a frequent cause of intellectual disability and autism. Animal models have proven invaluable in unravelling the molecular mechanisms underlying the disorder. Multiple defects in this inhibitory system have been identified in Fmr1 knockout mice, including altered expression of various components, aberrant GABAA receptor-mediated signalling, altered GABA concentrations and anatomical defects in GABAergic neurons. Aberrations compatible with those described in the mouse model were detected in dfmr1 deficient Drosophila melanogaster, a validated fly model for the fragile X syndrome. Treatment with drugs that ameliorate the GABAAergic deficiency in both animal models have demonstrated that the GABAA receptor is a promising target for the treatment of fragile X patients. Based on these preclinical studies, clinical trials in patients have been initiated. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Cancer Cachexia: Mechanisms and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Claire L. Donohoe


    Full Text Available Cachexia is a multifactorial process of skeletal muscle and adipose tissue atrophy resulting in progressive weight loss. It is associated with poor quality of life, poor physical function, and poor prognosis in cancer patients. It involves multiple pathways: procachectic and proinflammatory signals from tumour cells, systemic inflammation in the host, and widespread metabolic changes (increased resting energy expenditure and alterations in metabolism of protein, fat, and carbohydrate. Whether it is primarily driven by the tumour or as a result of the host response to the tumour has yet to be fully elucidated. Cachexia is compounded by anorexia and the relationship between these two entities has not been clarified fully. Inconsistencies in the definition of cachexia have limited the epidemiological characterisation of the condition and there has been slow progress in identifying therapeutic agents and trialling them in the clinical setting. Understanding the complex interplay of tumour and host factors will uncover new therapeutic targets.

  17. Clinical implications from monitoring fetal activity. (United States)

    Rayburn, W F


    The monitoring of fetal motion in high-risk pregnancies has been shown to be worthwhile in predicting fetal distress and impending fetal death. The maternal recording of perceived fetal activity is an inexpensive surveillance technique which is most useful when there is chronic uteroplacental insufficiency or when a stillbirth may be expected. The presence of an active, vigorous fetus is reassuring, but documented fetal inactivity required a reassessment of the underlying antepartum complication and further fetal evaluation with real-time ultrasonography, fetal heart rate testing, and biochemical testing. Fetal distress from such acute changes as abruptio placentae or umbilical cord compression may not be predicted by monitoring fetal motion. Although not used for routine clinical investigation, electromechanical devices such as tocodynamometry have provided much insight into fetal behavioral patterns at many stages of pregnancy and in pregnancies with an antepartum complication.

  18. Medical Malpractice Implications of Clinical Practice Guidelines. (United States)

    Ruhl, Douglas S; Siegal, Gil


    Clinical practice guidelines aim to improve medical care by clarifying and making useful recommendations to providers. Although providers should account for patients' unique characteristics when determining a treatment plan, it is generally perceived as good practice to follow guidelines when applicable. This is of interest in malpractice litigation, where it is essential to establish a standard of care to evaluate the performances of providers. Although the opinions of expert witnesses are used to determine standards of care, guidelines are expected to play a leading role. Guidelines alone should not establish a legal standard but may help inform this discussion in the courtroom. Therefore, it is incumbent that excellent, practical, and timely guidelines are continually created and updated in a transparent way. These guidelines must be very clear and underscore the various strengths of recommendation based on the quality of available evidence.

  19. Episodic Memories in Anxiety Disorders: Clinical Implications (United States)

    Zlomuzica, Armin; Dere, Dorothea; Machulska, Alla; Adolph, Dirk; Dere, Ekrem; Margraf, Jürgen


    The aim of this review is to summarize research on the emerging role of episodic memories in the context of anxiety disorders (AD). The available literature on explicit, autobiographical, and episodic memory function in AD including neuroimaging studies is critically discussed. We describe the methodological diversity of episodic memory research in AD and discuss the need for novel tests to measure episodic memory in a clinical setting. We argue that alterations in episodic memory functions might contribute to the etiology of AD. We further explain why future research on the interplay between episodic memory function and emotional disorders as well as its neuroanatomical foundations offers the promise to increase the effectiveness of modern psychological treatments. We conclude that one major task is to develop methods and training programs that might help patients suffering from AD to better understand, interpret, and possibly actively use their episodic memories in a way that would support therapeutic interventions and counteract the occurrence of symptoms. PMID:24795583

  20. Episodic memories in anxiety disorders: Clinical implications

    Directory of Open Access Journals (Sweden)

    Armin eZlomuzica


    Full Text Available The aim of this review is to summarize research on the emerging role of episodic memories in the context of anxiety disorders (AD. The available literature on explicit-, autobiographical- and episodic memory function in AD including neuroimaging studies is critically discussed. We describe the methodological diversity of episodic memory research in AD and discuss the need for novel tests to measure episodic memory in a clinical setting. We argue that alterations in episodic memory functions might contribute to the etiology of AD. We further explain why future research on the interplay between episodic memory function and emotional disorders as well as its neuroanatomical foundations offers the promise to increase the effectiveness of modern psychological treatments. We conclude that one major task is to develop methods and training programs that might help patients suffering from AD to better understand, interpret and possibly actively use their episodic memories in a way that would support therapeutic interventions and counteract the occurrence of symptoms.

  1. Epidemiological and clinical characteristics of Reiter's syndrome in Jordanian patients

    International Nuclear Information System (INIS)

    Al-Mrayat, Z.; Abdallat, S.; Marabha, T.


    Objective: To study the epidemiological and clinical features of Reiter's syndrome in patients who visited the rheumatology clinic in King Hussein Medical Centre (KHMC), Jordan. Methods: A prospective study, including 43 patients with the diagnosis of Reiter's syndrome was done. Patients were assessed by taking complete history, physical examination and appropriate investigations including urinalysis and culture, stool examination and culture, synovial fluid analysis, complement fixation test for Chlamydia trachomatis, complete blood count, erythrocyte sedimentation rate, rheumatoid factor, antinuclear antibodies. HLA-B27 and radiological study. Results: All patients in this study were white men, with mean age of 26.3 years. HLA-B27 was positive in 37 patients (86%). Most cases were post venereal (32 patients, 74%) while the rest were dysenteric. The clinical manifestations were arthritis in all patients (100%), urethritis in 21 patients (48%), ocular involvement in 20 patients (46%), diarrhea in 12 patients (28%), painless oral ulcers in 11 patients (26%), skin lesions in 5 patients (12%) and constitutional symptoms in 7 patients (16%). Arthritis was mostly oligoarticular (25 patients, 58%) with asymmetrical pattern in 34 patients (78%). Large joints of lower extremity were most involved (29 patients, 68%). Rheumatoid factor and antinuclear antibodies were negative in all patients. Relapses occurred in 7 patients (16%) after a mean period of 6.2 months. Conclusion: It is concluded that the epidemiological and clinical features of Reiter's syndrome in Jordan are not different from those in the literature. (author)

  2. Fragile X Syndrome in Males: Diagnostic, Behavioral, and Educational Implications. (United States)

    Bellinger, Diane; And Others

    This paper reviews the research on fragile X syndrome, the second most common cause of mental retardation related to chromosomal anomaly. It notes that far more males than females are affected by the fragile X syndrome, which typically results in craniofacial changes, delays in growth and development, speech/language difficulties, and cognitive…

  3. Polycystic ovary syndrome (PCOS) – the long-term implications

    African Journals Online (AJOL)


    Aug 28, 2009 ... It is well recognised that polycystic ovary syndrome. (PCOS) is the most common endocrinopathy in ... To diagnose PCOS, and bearing in mind that it is a syndrome and does not exist as a single symptom, two ..... in 1956 to 1965: A long-term follow-up focusing on natural history and circulating hormones.

  4. Clinical characteristics of childhood guillain-barré syndrome. (United States)

    Koul, Roshan; Al-Futaisi, Amna; Chacko, Alexander; Fazalullah, Mohammed; Nabhani, Susan Al; Al-Awaidy, Salah; Al-Busaidy, Suleiman; Al-Mahrooqi, Salim


    To find the incidence, clinical pattern and outcome of Guillain-Barre syndrome in the Sultanate of Oman in children less than 15 years of age. All children under fifteen years with acute flaccid paralysis were admitted to identify the underlying cause. The diagnosis of Gullain Barre syndrome was made by clinical criteria, cerebrospinal fluid findings and nerve conduction studies. Intravenous immunoglobulins were given to all and two needed plasmapharesis. Sixty-one children were diagnosed as Guillan-Barré syndrome and constituted 20% of cases of acute flaccid paralysis. Males 39 (63.9%) outnumbered females (36.1%).The annual incidence below 15 years was 0.45/100,000. Cranial nerves were involved in 31 (50.8%) children. Albumino-cytological dissociation in cerebrospinal fluid was seen in 42/45(93.3%) cases. Acute relapse was seen in six (9.8%) cases. Eleven children (18.3%) needed ventilation. Complete recovery was seen in 45 to 310 days (mean 69.1 days). Three children (4.9%) were left with minimal residual deficit. There was no mortality. Guillain Barre syndrome is a serious disease, although recovery is the rule in children. The disease is associated with very low mortality and long term morbidity. Immunoglobulins have reduced the duration of hospital stay and the total time needed for recovery.

  5. Clinical Features of Miller-Fisher Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Masanori Ono


    Full Text Available Miller-Fisher syndrome (MFS is recognized as a variant of Guillain-Barré syndrome (GBS. MFS is a rare disorder that is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia/hyporeflexia. MFS has a higher incidence in Asia, where the incidence is estimated to be 18%–26% of GBS compared with 3%–5% in the West. The differential diagnosis of MFS includes Wernicke’s encephalopathy (WE which is characterized by a clinical triad (nystagmus and ophthalmoplegia, mental status changes, and ataxia, myasthenia gravis, and brainstem stroke. The association between MFS and pregnancy has not been reported previously. Here, we describe the clinical features of a pregnant woman in early pregnancy with MFS. This case highlights the fact that it is necessary to establish an accurate diagnosis based on the details from the patient’s history on appropriate complementary testing in a pregnant patient with MFS.

  6. Clinical Implications of Dynamic Systems Theory for Phonological Development (United States)

    Rvachew, Susan; Bernhardt, Barbara May


    Purpose: To examine treatment outcomes in relation to the complexity of treatment goals for children with speech sound disorders. Method: The clinical implications of dynamic systems theory in contrast with learnability theory are discussed, especially in the context of target selection decisions for children with speech sound disorders. Detailed…

  7. Natriuretic Peptides: Biochemistry, Physiology, Clinical Implication

    Directory of Open Access Journals (Sweden)

    I. A. Kozlova


    Full Text Available In the past years, the interest of theorists and clinicians has steadily increased in the myocardially secreted hormones – natriuretic peptides. At the Congress of the European Society of Anesthesiology (Munich, 2007, B-type natriuretic peptides were included into the list of the parameters of perioperative laboratory monitoring that is expedient in the practice of anesthetists and resuscitation specialists. The literature review shows the history of discovery and identification of different types of natriuretic peptides and considers the matters of their biochemistry. It also details information on the synthesis, secretion, and clearance of these peptides, as well as their receptor apparatus in various organs and tissues. The physiology of the regulatory system is described, as applied to the cardiovascular, excretory, central nervous systems, and the neuroendocrine one. Special attention is given to the current publications on the control of B-type natriuretic peptides as biomarkers of cardiac dysfunction. The diagnostic and prognostic values of peptides are analyzed in chronic circulatory insufficiency, coronary heart disease, and other car-diological and non-cardiological diseases. The prognostic value of elevated B-type natriuretic peptide levels in cardiac surgery is separately considered. It is concluded that the changes in the level of B-type natriuretic peptides in different clinical situations are the subject of numerous researches mainly made in foreign countries. The bulk of these researches are devoted to the study of peptides in cardiology and other areas of therapy. Studies on the use of peptides in reanimatology are relatively few and their results are rather discordant. The foregoing opens up wide prospects for studying the use of B-type natriuretic peptides in Russian intensive care and anesthesiology. Key words: natriuretic peptides, brain nautriuretic peptides, NT-proBNP.

  8. Endothelium-derived relaxing factor: basic review and clinical implications. (United States)

    Johns, R A


    shown that the endothelium may play a role in mediating the vascular actions of anesthetics, and that anesthetics can inhibit the production, release, or action of EDRF. How are these interactions mediated? Are there significant differences between anesthetics with regard to their effects on EDRF? Is there a clinically significant effect of anesthetics on basal activity of EDRF, or only in response to exogenous stimulation? Conversely, it is important to determine if alterations in endothelial cell function by various disease states such as hypertension, atherosclerosis, adult respiratory distress syndrome, cerebral vasospasm, and others cause changes in the vascular actions of anesthetics. The potential interactions of anesthetics with EDRF production and action in cell types other than the endothelium have not yet been explored.(ABSTRACT TRUNCATED AT 400 WORDS)

  9. Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Jeremiah C. Davis


    Full Text Available DOCK8 immunodeficiency syndrome (DIDS is a combined immunodeficiency characterized by recurrent viral infections, severe atopy, and early onset malignancy. Genetic studies revealed large, unique deletions in patients from different families and ethnic backgrounds. Clinical markers of DIDS include atopic dermatitis, allergies, cutaneous viral infections, recurrent respiratory tract infections, and malignancy. Immune assessments showed T cell lymphopenia, hyper-IgE, hypo-IgM, and eosinophilia. The impaired lymphocyte functions in DIDS patients appear central for disease pathogenesis.

  10. The Korsakoff syndrome: clinical aspects, psychology and treatment. (United States)

    Kopelman, Michael D; Thomson, Allan D; Guerrini, Irene; Marshall, E Jane


    The Korsakoff syndrome is a preventable memory disorder that usually emerges (although not always) in the aftermath of an episode of Wernicke's encephalopathy. The present paper reviews the clinical and scientific literature on this disorder. A systematic review of the clinical and scientific literature on Wernicke's encephalopathy and the alcoholic Korsakoff syndrome. The Korsakoff syndrome is most commonly associated with chronic alcohol misuse, and some heavy drinkers may have a genetic predisposition to developing the syndrome. The characteristic neuropathology includes neuronal loss, micro-haemorrhages and gliosis in the paraventricular and peri-aqueductal grey matter. Lesions in the mammillary bodies, the mammillo-thalamic tract and the anterior thalamus may be more important to memory dysfunction than lesions in the medial dorsal nucleus of the thalamus. Episodic memory is severely affected in the Korsakoff syndrome, and the learning of new semantic memories is variably affected. 'Implicit' aspects of memory are preserved. These patients are often first encountered in general hospital settings where they can occupy acute medical beds for lengthy periods. Abstinence is the cornerstone of any rehabilitation programme. Korsakoff patients are capable of new learning, particularly if they live in a calm and well-structured environment and if new information is cued. There are few long-term follow-up studies, but these patients are reported to have a normal life expectancy if they remain abstinent from alcohol. Although we now have substantial knowledge about the nature of this disorder, scientific questions (e.g. regarding the underlying genetics) remain. More particularly, there is a dearth of appropriate long-term care facilities for these patients, given that empirical research has shown that good practice has beneficial effects.

  11. Susac syndrome: clinical characteristics, clinical classification, and long-term prognosis. (United States)

    Vishnevskia-Dai, Vicktoria; Chapman, Joav; Sheinfeld, Roee; Sharon, Tal; Huna-Baron, Ruth; Manor, Riri S; Shoenfeld, Yehuda; Zloto, Ofira


    Susac syndrome is a rare condition characterized by the clinical triad of central nervous system (CNS) dysfunction, sensorineural hearing impairment, and branch retinal artery occlusion (BRAO). The purpose of this study is to examine the demographics, clinical characteristics, treatment, and long-term prognosis of Susac syndrome. The data recorded for all Susac syndrome patients treated at the Sheba Medical Center between 1998 and 2014 included demographics, clinical signs at presentation and during the disease course, imaging findings, treatment, and prognosis.Susac syndrome was diagnosed in 10 patients (age range 30-45 years). Only 2 patients presented with the full triad and 7 patients developed the full triad during mean follow-up period of 35 months. The average time to full triad was 7 months. Based on our observations at presentation, we divided the disease course into suspected, incomplete, and complete Susac syndrome. All 10 patients were treated at diagnosis with a pulse of high-dose intravenous methylprednisolone. There was improvement in visual acuity and visual field at the end of follow-up compared to baseline, but it was not statistically significant (P = 0.479 and P = 0.053, respectively). Five patients remained with neurological damage, and 5 patients had no improvement of their hearing loss at study closure. In conclusion, Susac syndrome is a rare condition that can mimic other disorders. The diagnosis is challenging because most patients do not initially present with the definitive triad. We suggest a clinical classification for the syndrome that may assist in early diagnosis.

  12. Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome. (United States)

    Hall, Deborah A; O'Keefe, Joan A


    This article summarizes the clinical findings, genetics, pathophysiology, and treatment of fragile X-associated tremor ataxia syndrome. The disorder occurs from a CGG repeat (55-200) expansion in the fragile X mental retardation 1 gene. It manifests clinically in kinetic tremor, gait ataxia, and executive dysfunction, usually in older men who carry the genetic abnormality. The disorder has distinct radiographic and pathologic findings. Symptomatic treatment is beneficial in some patients. The inheritance is X-linked and family members may be at risk for other fragile X-associated disorders. This information is useful to neurologists, general practitioners, and geneticists. Copyright © 2013. Published by Elsevier Inc.

  13. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. (United States)

    Wimplinger, Isabella; Rauch, Anita; Orth, Ulrike; Schwarzer, Ulrich; Trautmann, Udo; Kutsche, Kerstin


    The microphthalmia with linear skin defects (MLS or MIDAS) syndrome is a rare X-linked dominant inherited disorder with male lethality, associated with segmental aneuploidy of the Xp22.2 region in most of the cases. However, we recently described heterozygous sequence alterations in a single gene, HCCS, in females with MLS. Beside the classical MLS phenotype, occasional features such as sclerocornea, agenesis of the corpus callosum, and congenital heart defects can occur. Although the majority of cases are sporadic, mother-to-daughter transmission has been observed and a high intra- and interfamilial phenotypic variability exists. We describe an asymptomatic mother and her daughter presenting with the typical features of MLS syndrome. By cytogenetic analysis both females were found to have a terminal Xp deletion with the breakpoint in Xp22.2, mapping near to or within the MSL3L1 gene which is located centromeric to HCCS. FISH analysis revealed that the mother is a mosaic with 45,X(11)/46,X,del(X)(p22.2)(89), while in all cells of the MLS-affected daughter a hybridization pattern consistent with a 46,X,del(X)(p22.2) karyotype was detected. By haplotype analysis we identified the paternal X chromosome of the mother to carry the terminal Xp deletion. X-inactivation studies showed a completely skewed pattern in mother and daughter with the deleted X chromosome to be preferentially inactivated in their peripheral blood cells. We suggest that both chromosomal mosaicism as well as functional X chromosome mosaicism could contribute to the lack of any typical MLS feature in individuals with a heterozygous MLS-associated mutation. The 45,X cell population, that most likely is also present in other tissues of the mother, might have protected her from developing MLS. Nonetheless, a non-random X-inactivation pattern in favor of activity of the wild-type X chromosome in the early blastocyte could also account for the apparent lack of any disease sign in this female.

  14. Clinical presentation & management of glomerular diseases: hematuria, nephritic & nephrotic syndrome. (United States)

    Khanna, Ramesh


    Because the differential diagnosis for glomerulonephritis (GN) is broad, using a classification schema is helpful to narrow the causes of GN in a systematic manner. The etiology of glomerulonephritis can be classified by their clinical presentation (nephrotic, nephritic, rapidly progressive GN, chronic GN) or by histopathology. GN may be restricted to the kidney (primary glomerulonephritis) or be a secondary to a systemic disease (secondary glomerulonephritis). The nephrotic syndrome is defined by the presence of heavy proteinuria (protein excretion greater than 3.0 g/24 hours), hypoalbuminemia (less than 3.0 g/dL), and peripheral edema. Hyperlipidemia and thrombotic disease may be present. The nephritic syndrome is associated with hematuria and proteinuria and abnormal kidney function and carries poorer prognosis and is typically associated with hypertension. The predominant cause of the nephrotic syndrome in children is minimal change disease. The most common causes of nephritic syndrome are post infectious GN, IgA nephropathy and lupus nephritis. Chronic GN is slowly progressive and is associated with hypertension and gradual loss of kidney function. Treatment includes non-specific measure aimed at controlling hypertension, edema, proteinuria and disease modifying immunosuppression.

  15. [Carpal tunnel syndrome in children. About 10 clinical cases]. (United States)

    Leduc, A; Perrot, P; Truffandier, M V; Bellier-Waast, F; Duteille, F


    The carpal tunnel syndrome is a common peripheral neuropathy in adults but is rare in children. We report a series of 10 carpal tunnel syndromes in children. We have supported five children, two males and three females, with a bilateral carpal tunnel syndrome. We studied the clinical history (history, symptoms, stage of disease), therapeutic management and remote development. Three children were diagnosed with a mucopolysaccharidosis, the fourth with VATER association. For the last child, it was a form considered idiopathic. Two children were referred for night pains, the others for under-utilization of their first three fingers, two of which had a thenar atrophy. Four children underwent an electromyogram for diagnostic confirmation. We realized open surgical treatment at one time, by section of the carpal ligament. The average age of our patients was 4years. The average decline in the surgical study was 19 months. Postoperatively, we noted, in all patients, complete regression of the painful symptoms, a sensory improvement and recovery of the opposition of the thumb. The scarcity of carpal tunnel syndrome in children and the atypical symptoms may cause diagnostic delay, with serious consequences. We keep vigilant and ready to access to additional tests (electromyogram). For our team, the therapeutic approach is a systematic open surgical treatment. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  16. Memory profiles of Down, Williams, and fragile X syndromes: implications for reading development. (United States)

    Conners, Frances A; Moore, Marie S; Loveall, Susan J; Merrill, Edward C


    The purpose of this review was to understand the types of memory impairments that are associated with intellectual disability (ID, formerly called mental retardation) and the implications of these impairments for reading development. Specifically, studies on working memory, delayed memory and learning, and semantic/conceptual memory in Down syndrome, Williams syndrome, and fragile X syndrome were examined. A distinct memory profile emerged for each of the 3 etiologies of ID. Memory profiles are discussed in relation to strengths and weaknesses in reading skills in these three etiologies. We suggest that reading instruction be designed to capitalize on relatively stronger memory skills while providing extra support for especially challenging aspects of reading.

  17. Clinical characteristics and treatment of Herlyn-Werner-Wunderlich syndrome. (United States)

    Wang, Jinhui; Zhu, Lan; Lang, Jinghe; Liu, Zhufeng; Sun, Dawei; Leng, Jinhua; Fan, Qingbo


    To investigate the clinical characteristics and treatment of the Herlyn-Werner-Wunderlich syndrome (HWWS). Sixty-one patients diagnosed with HWWS were retrospectively analyzed. HWWS is categorized into three types in China. Age at presentation of all the cases was after menarche. The most common clinical presentations were dysmenorrhea for type I and vaginal discharge for types II and III. Clinical presentations of types II and III may not occur until reproductive age. HWWS occurred on the right in 39/61. Excision of the obstructed vaginal septum was the treatment utilized in this cohort. After surgery, subsequent pregnancies were ipsilateral in 52.9 %. Clinical presentation in untreated HWWS suggests the anatomic anomaly. Early recognition and treatment can reduce symptoms. Pregnancies occur in both the affected and unaffected uterus.

  18. Clinical outcome and risk stratification in Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Tadashi Wada, MD


    Full Text Available Since the first report on Brugada syndrome, various risk markers for the prediction of ventricular fibrillation (VF in patients with Brugada syndrome have been reported. Multicenter trials reported spontaneous type 1 electrocardiogram (ECG and disease symptoms as prognostic predictors. VF induction by programmed electrical stimulation is still controversial, and most of the studies have failed to prove its significance for the prediction of spontaneous VF episodes. In Japan, although most multicenter studies have shown that patients with type 1 ECG were at high risk, it is difficult to determine the indication for implantation of an implantable cardioverter defibrillator only based on the ECG type. Recent studies have added new risk markers, such as inferolateral early repolarization, fragmented QRS, and shorter effective refractory periods of the ventricle, in addition to type 1 ECG and symptoms. Here, we review the clinical outcome and indices reported as reliable prognostic factors of Brugada syndrome with a focus on the clinical and ECG markers for risk stratification.

  19. Clinical and histological characteristics of canine ocular gliovascular syndrome. (United States)

    Treadwell, Amy; Naranjo, Carolina; Blocker, Tiffany; Zarfoss, Mitzi; Dubielzig, Richard R


    To characterize the clinical, diagnostic, and histopathologic findings in dogs with canine ocular gliovascular syndrome (COGS). The archives at the Comparative Ocular Pathology Laboratory of Wisconsin (COPLOW) were used to identify eyes with COGS. Histopathological inclusion criteria included: a neovascular membrane extending from the optic nerve head or retina, clusters of spindle cells lacking vascularization within the vitreous, and histological signs of glaucoma. Special and immunohistochemical (IHC) staining techniques were performed. Clinical data, treatments, and outcomes were obtained from case records and information provided by submitting veterinarians. Thirty-seven eyes of 36 dogs were identified with COGS. The average age at diagnosis was 8.8 years (±2.2). The relative risk for a Labrador retriever affected by COGS was significantly greater (9.3 times) (P syndrome associated with vitreal glial cell aggregates and neovascular proliferation from the optic nerve or retina, which leads to neovascular glaucoma. The inflammation and secondary glaucoma resulting from this syndrome appear poorly responsive to conventional medical therapies. The exact etiology of COGS remains undetermined, but a systemic etiology is unlikely. © 2014 American College of Veterinary Ophthalmologists.

  20. Anatomical, Clinical and Electrical Observations in Piriformis Syndrome

    Directory of Open Access Journals (Sweden)

    Assoum Hani A


    Full Text Available Abstract Background We provided clinical and electrical descriptions of the piriformis syndrome, contributing to better understanding of the pathogenesis and further diagnostic criteria. Methods Between 3550 patients complaining of sciatica, we concluded 26 cases of piriformis syndrome, 15 females, 11 males, mean age 35.37 year-old. We operated 9 patients, 2 to 19 years after the onset of symptoms, 5 had piriformis steroids injection. A dorsolumbar MRI were performed in all cases and a pelvic MRI in 7 patients. The electro-diagnostic test was performed in 13 cases, between them the H reflex of the peroneal nerve was tested 7 times. Results After a followup 1 to 11 years, for the 17 non operated patients, 3 patients responded to conservative treatment. 6 of the operated had an excellent result, 2 residual minor pain and one failed. 3 new anatomical observations were described with atypical compression of the sciatic nerve by the piriformis muscle. Conclusion While the H reflex test of the tibial nerve did not give common satisfaction in the literature for diagnosis, the H reflex of the peroneal nerve should be given more importance, because it demonstrated in our study more specific sign, with six clinical criteria it contributed to improve the method of diagnosis. The cause of this particular syndrome does not only depend on the relation sciatic nerve-piriformis muscle, but the environmental conditions should be considered with the series of the anatomical anomalies to explain the real cause of this pain.

  1. Alagille syndrome case report: implications for forensic pathology and anthropology. (United States)

    Petaros, Anja; Miletic, Damir; Stifter, Sanja; Slaus, Mario; Stemberga, Valter


    This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.

  2. The Borderline Syndrome Index. Clinical validity and utility. (United States)

    Edell, W S


    Recently, a 52-item self-report questionnaire, called the Borderline Syndrome Index (BSI), was developed to provide a rapid clinical assessment of the borderline syndrome (Conte, H. R., Plutchik, R., Karasu, T. B., and Jerrett, I. A self-report borderline scale: Discriminative validity and preliminary norms. J. Nerv. Ment. Dis., 168: 428-435, 1980). The present investigation addresses the question of the applicability of this test instrument over the full range of borderline syndrome psychopathology, as defined by DSM-III diagnostic criteria, as well as the relationship of various demographic, treatment, and personality variables to total scale scores. The final sample consisted of 51 patients meeting DSM-III diagnostic criteria for borderline personality disorder, 14 patients with DSM-III defined schizotypal personality disorder, 17 patients meeting DSM-III diagnostic criteria for borderline and schizotypal personality disorder, 30 CATEGO-defined early schizophrenics (first psychotic episode within the past 2 years), and 20 normal control subjects. All patient groups scored significantly higher than the normal group on the BSI, and each borderline syndrome group was discriminable from the early schizophrenic group but not from each other. None of the demographic variables correlated significantly with BSI total scores. Treatment variables were somewhat related to total scores, and it is suggested that chronicity rather than severity of disturbance may strongly affect performance on the BSI. Principal component analysis of BSI items, as well as high correlations between scores on the BSI and almost every scale on the MMPI, suggests that the BSI may be tapping a general, rather than specific, dimension of psychopathology. This dimension might best be described as a generalized deficiency in coping with life, with resultant feelings of hopelessness and worthlessness. While the present study provides some support for the discriminative validity of the measure, further

  3. A case of clinical Reye syndrome presenting characteristic CT changes

    International Nuclear Information System (INIS)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo; Okuno, Takehiko.


    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease. (author)

  4. [Clinical and neuropathological aspects of Wernicke-Korsakoff syndrome]. (United States)

    Zubaran, C; Fernandes, J; Martins, F; Souza, J; Machado, R; Cadore, M


    Alcohol abuse is one of most serious problems in public health and the Wernicke-Korsakoff syndrome one of the gravest consequences of alcoholism. The pathology is often undiagnosed in its less evident presentations, therefore an accurate diagnostic approach is a critical step in planning treatment. Besides new pharmacological proposals, treatment is based on the restoration of thiamine, although this is insufficient to prevent the psychological decline of a great number of patients. The cognitive impact of the pathology is derived from the interaction of alcoholic neurotoxicity, thiamine deficiency and personal susceptibility. In this article the history, epidemiology, clinical and neuropathological features of the Wernicke-Korsakoff syndrome, as well as some aspects of its treatment and prognosis, are described.

  5. Cushing's syndrome and chronic venous ulceration--a clinical challenge. (United States)

    Biswas, Moushmi; Gibby, Owain; Ivanova-Stoilova, Tzvetanka; Harding, Keith


    Cushing's syndrome is a condition caused by high levels of glucocorticoids, or most commonly as a result of prolonged exposure to exogenous steroids. Clinical features include diabetes, hypertension, obesity, skin atrophy, immune suppression and delayed wound healing. We report a patient with iatrogenic Cushing's syndrome, in whom long-term topical steroid therapy was used to treat varicose eczema, which contributed to the development of type 2 diabetes, morbid obesity, sleep apnoea and chronic wound sepsis. In this case, repeated hospital admissions and systemic antibiotics were associated with considerable comorbidity. Aggressive local treatment, consisting of potassium permanganate soaks and irrigating gels, was highly effective in reducing the amount of exudate, pain and preventing from further deterioration of the patient's legs. © 2010 The Authors. © 2010 Blackwell Publishing Ltd and Inc.

  6. Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections

    NARCIS (Netherlands)

    Hilhorst-Hofstee, Yvonne


    This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome. These guidelines contain practical directions for

  7. Clinical utility of lenalidomide in the treatment of myelodysplastic syndromes

    Directory of Open Access Journals (Sweden)

    Abou Zahr A


    Full Text Available Abdallah Abou Zahr,1 Ehab Saad Aldin,2 Rami S Komrokji,3 Amer M Zeidan4 1Section of Hematology/Oncology, Department of Internal Medicine, Mount Sinai Beth Israel, New York City, New York, NY, 2Department of Internal Medicine, Medstar Good Samaritan Hospital, Baltimore, MD, 3Department of Malignant Hematology, H Lee Moffitt Cancer Center and Research Institute, Tampa, FL, 4Division of Hematology, Department of Medicine, Yale University, New Haven, CT, USA Abstract: Myelodysplastic syndromes (MDS represent a heterogeneous group of acquired clonal hematopoietic disorders characterized by peripheral blood cytopenias, paradoxical BM hypercellularity, ineffective hematopoiesis, and increased risk of leukemic transformation. Risk stratification, using different prognostic scores and markers, is at the core of MDS management. Deletion 5q [del(5q] MDS is a distinct class of MDS characterized by the haploinsufficiency of specific genes, microRNAs, and proteins, which has been linked to increased sensitivity to the drug lenalidomide. Phase II and III clinical trials have demonstrated the efficacy of lenalidomide in improving clinical outcomes of patients with del(5q MDS, including reduction in red blood cell transfusion requirements and improvements in quality of life. Lenalidomide has also demonstrated some activity in non-del(5q lower-risk MDS as well as higher-risk MDS, especially in combination with other agents. In this paper, we review the pathogenesis of del(5q MDS, the proposed mechanisms of action of lenalidomide, the major clinical trials that documented the activity of lenalidomide in different MDS populations, potential predictors of benefit from the drug and suggested mechanisms of resistance, and the use of combination strategies to expand the clinical utility of lenalidomide in MDS. Keywords: deletion 5q, lenalidomide, myelodysplastic syndromes, 5q-syndrome

  8. Neurological implications of obstructive sleep apnea-hypopnea syndrome (OSAHS

    Directory of Open Access Journals (Sweden)

    Marco Venegas-Mariño


    Full Text Available Obstructive sleep apnea-hypopnea syndrome (OSAHS is a pathology with frequent systemic repercussions. One of the most affected organs is the brain, as well as the central nervous system, thus becoming a cerebrovascular risk factor regardless of other factors. This syndrome may increase the frequency and severity of primary central nervous system diseases such as epilepsy and dementia syndromes. A cardinal symptom of OSAHS is headache, which has specific characteristics; in addition, different pathophysiological mechanisms involved in its development have been identified such as frequent micro-arousals from sleep, secondary daytime sleepiness, altered attention capacity, concentration, motor reaction, affection, among others. Together, these mechanisms affect other higher mental functions including judgment, reasoning or memory. Factors like hypoxemia, hypercapnia, increased heart rate and blood pressure, adrenaline secretion, noradrenaline or cortisol during sleep contribute to the endothelial alteration responsible for cerebrovascular disease.

  9. Shoulder Impingement Syndromes: Implications on Physical Therapy Examination and Intervention (United States)


    A painful shoulder presents challenges in examination, diagnosis and intervention for the physical therapist because of the complexity of the structures involved. A common cause of shoulder pain is shoulder impingement syndrome. This was first described as a condition in which the soft tissues of the subacromial space were chronically entrapped and compressed between the humeral head and the subacromial arch. This definition does not account for the myriad potential causes of shoulder impingement conditions, as forms of impingement other than subacromial soft tissue compression may explain different symptomatic shoulder injuries. This paper describes shoulder impingement syndromes that have been hypothesized, identified and analyzed in the literature. Physical Therapy examination and intervention for these syndromes are also discussed. PMID:25792938

  10. Predicting outcome in clinically isolated syndrome using machine learning (United States)

    Wottschel, V.; Alexander, D.C.; Kwok, P.P.; Chard, D.T.; Stromillo, M.L.; De Stefano, N.; Thompson, A.J.; Miller, D.H.; Ciccarelli, O.


    We aim to determine if machine learning techniques, such as support vector machines (SVMs), can predict the occurrence of a second clinical attack, which leads to the diagnosis of clinically-definite Multiple Sclerosis (CDMS) in patients with a clinically isolated syndrome (CIS), on the basis of single patient's lesion features and clinical/demographic characteristics. Seventy-four patients at onset of CIS were scanned and clinically reviewed after one and three years. CDMS was used as the gold standard against which SVM classification accuracy was tested. Radiological features related to lesional characteristics on conventional MRI were defined a priori and used in combination with clinical/demographic features in an SVM. Forward recursive feature elimination with 100 bootstraps and a leave-one-out cross-validation was used to find the most predictive feature combinations. 30 % and 44 % of patients developed CDMS within one and three years, respectively. The SVMs correctly predicted the presence (or the absence) of CDMS in 71.4 % of patients (sensitivity/specificity: 77 %/66 %) at 1 year, and in 68 % (60 %/76 %) at 3 years on average over all bootstraps. Combinations of features consistently gave a higher accuracy in predicting outcome than any single feature. Machine-learning-based classifications can be used to provide an “individualised” prediction of conversion to MS from subjects' baseline scans and clinical characteristics, with potential to be incorporated into routine clinical practice. PMID:25610791

  11. Clinical and inheritance profiles of Kallmann syndrome in Jordan

    Directory of Open Access Journals (Sweden)

    Shegem Nadima S


    Full Text Available Abstract Background Proper management of patients with Kallmann syndrome (KS allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. Subjects Over a period of five years (1999–2004, the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. Results The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. Conclusions (1 the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2 Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3 Children presenting with cryptorchidism and microphallus in our population should be investigated for KS.

  12. Chiasmal syndrome: Clinical characteristics in patients attending an ophthalmological center. (United States)

    Astorga-Carballo, Aline; Serna-Ojeda, Juan Carlos; Camargo-Suarez, Mayra Fabiola


    To present the clinical characteristics of a group of patients with the diagnosis of chiasmal syndrome who attended a large ophthalmological institute. Retrospective, observational clinical study with the review of medical records of patients with a diagnosis of chiasmal syndrome. The following variables were assessed: demographic characteristics, chief complaint upon presentation, best-corrected visual acuity (BCVA), presence or absence of diplopia, pupillary responses, optic nerve head morphology, etiology, and results from the ancillary tests including Ishihara test, Goldmann visual field (GVF) perimetry and neuroimaging. A total of 104 met the inclusion criteria, with a median age of 52 years (range 4-86 years). Fifty-four patients (51.9%) were referred to our institution with a diagnosis of a causative etiology for chiasmal syndrome, while in 50 (48.1%) the diagnosis was performed at our center. The most common presenting symptom was low visual acuity in 57 patients (54.8%), and the most common GVF defect was bitemporal hemianopsia in 39 patients (78 eyes, 39.8%). Pupillary abnormalities were present in 58 patients (55.7%), the optic nerve revealed pallor at any degree in 67 patients (64.4%) and the Ishihara test was affected in 65 patients (62.5%). The most common diagnosis was pituitary macroadenoma. The ophthalmologist participates in the diagnosis and rehabilitation of patients with chiasmal syndrome. Low visual acuity is the most common symptom at presentation, and bitemporal hemianopia the most frequent GVF defect. Examination of the optic nerve head and pupillary responses, and ancillary tests including Ishihara test and neuroimaging are relevant for diagnosis.

  13. Metabolic syndrome: what is it and what are the implications? (United States)

    Shaw, D I; Hall, W L; Williams, C M


    Obesity and overweight are linked with a cluster of metabolic and vascular disorders that have been termed the metabolic syndrome. Although there is not yet a universally-accepted set of diagnostic criteria, most expert groups agree that the syndrome is characterised by impaired insulin sensitivity and hyperglycaemia, dyslipidaemia (elevated blood triacyglycerols with depressed HDL-cholesterol), abdominal obesity and hypertension. Based on existing published criteria estimates suggest that the syndrome affects a substantial percentage of the middle-aged and elderly populations of most European countries (10-20%) and confers increased risk of type 2 diabetes (2-8.8-fold) and CVD (1.5-6-fold), as well as having a marked effect on morbidity. Although the pathophysiology is incompletely understood, insulin resistance and abdominal obesity are central to subsequent abnormalities in circulating glucose and lipoproteins, and vascular function that lead to type 2 diabetes, atherosclerosis and CVD. The link between metabolic syndrome, type 2 diabetes and CVD, as well as inability to reverse the present rising rates of obesity, will lead to economically-unsustainable costs of health care in the next 10-20 years. Preventative strategies for metabolic syndrome are required to slow rates of progression and to reduce dependence on costly medical management. A notable development is recent evidence that shows that diet and exercise are more effective than drug treatment in preventing the development of type-2 diabetes in high-risk individuals. The LIPGENE project will investigate dietary fat quality as a strategy for the prevention of metabolic syndrome and identify food chain approaches that can support consumer attempts to alter their dietary patterns.

  14. HBV DNA Integration: Molecular Mechanisms and Clinical Implications (United States)

    Tu, Thomas; Budzinska, Magdalena A.; Shackel, Nicholas A.; Urban, Stephan


    Chronic infection with the Hepatitis B Virus (HBV) is a major cause of liver-related morbidity and mortality. One peculiar observation in cells infected with HBV (or with closely‑related animal hepadnaviruses) is the presence of viral DNA integration in the host cell genome, despite this form being a replicative dead-end for the virus. The frequent finding of somatic integration of viral DNA suggests an evolutionary benefit for the virus; however, the mechanism of integration, its functions, and the clinical implications remain unknown. Here we review the current body of knowledge of HBV DNA integration, with particular focus on the molecular mechanisms and its clinical implications (including the possible consequences of replication-independent antigen expression and its possible role in hepatocellular carcinoma). HBV DNA integration is likely to influence HBV replication, persistence, and pathogenesis, and so deserves greater attention in future studies. PMID:28394272

  15. Biological and Clinical Implications of Comorbidities in Parkinson's Disease. (United States)

    Santiago, Jose A; Bottero, Virginie; Potashkin, Judith A


    A wide spectrum of comorbidities has been associated with Parkinson's disease (PD), a progressive neurodegenerative disease that affects more than seven million people worldwide. Emerging evidence indicates that chronic diseases including diabetes, depression, anemia and cancer may be implicated in the pathogenesis and progression of PD. Recent epidemiological studies suggest that some of these comorbidities may increase the risk of PD and precede the onset of motor symptoms. Further, drugs to treat diabetes and cancer have elicited neuroprotective effects in PD models. Nonetheless, the mechanisms underlying the occurrence of these comorbidities remain elusive. Herein, we discuss the biological and clinical implications of comorbidities in the pathogenesis, progression, and clinical management, with an emphasis on personalized medicine applications for PD.

  16. HBV DNA Integration: Molecular Mechanisms and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Thomas Tu


    Full Text Available Chronic infection with the Hepatitis B Virus (HBV is a major cause of liver-related morbidity and mortality. One peculiar observation in cells infected with HBV (or with closely‑related animal hepadnaviruses is the presence of viral DNA integration in the host cell genome, despite this form being a replicative dead-end for the virus. The frequent finding of somatic integration of viral DNA suggests an evolutionary benefit for the virus; however, the mechanism of integration, its functions, and the clinical implications remain unknown. Here we review the current body of knowledge of HBV DNA integration, with particular focus on the molecular mechanisms and its clinical implications (including the possible consequences of replication-independent antigen expression and its possible role in hepatocellular carcinoma. HBV DNA integration is likely to influence HBV replication, persistence, and pathogenesis, and so deserves greater attention in future studies.

  17. Potential Clinical Implications of the Urotensin II Receptor Antagonists

    Directory of Open Access Journals (Sweden)

    Emilie Kane


    Full Text Available Urotensin-II (UII, which binds to its receptor UT, plays an important role in the heart, kidneys, pancreas, adrenal gland and CNS. In the vasculature, it acts as a potent endothelium-independent vasoconstrictor and endothelium-dependent vasodilator. In disease states, this constriction-dilation equilibrium is disrupted. There is an upregulation of the UII system in heart disease, metabolic syndrome and kidney failure. The increase in UII release and UT expression suggest that UII system may be implicated in the pathology and pathogenesis of these diseases by causing an increase in ACAT-1 activity leading to SMC proliferation and foam cell infiltration, insulin resistance (DMII, as well as inflammation, high blood pressure and plaque formation. Recently, UT antagonists such as SB-611812, palosuran, and most recently a piperazino-isoindolinone based antagonist have been developed in the hope of better understanding the UII system and treating its associated diseases.

  18. Rett Syndrome: Crossing the Threshold to Clinical Translation. (United States)

    Katz, David M; Bird, Adrian; Coenraads, Monica; Gray, Steven J; Menon, Debashish U; Philpot, Benjamin D; Tarquinio, Daniel C


    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. Copyright © 2016. Published by Elsevier Ltd.

  19. Rett Syndrome: Crossing the Threshold to Clinical Translation (United States)

    Katz, David M.; Bird, Adrian; Coenraads, Monica; Gray, Steven J.; Menon, Debashish U.; Philpot, Benjamin D.; Tarquinio, Daniel C.


    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. PMID:26830113

  20. The Clinical Implications of Fatty Pancreas: A Concise Review. (United States)

    Khoury, Tawfik; Asombang, Akwi W; Berzin, Tyler M; Cohen, Jonah; Pleskow, Douglas K; Mizrahi, Meir


    Fatty pancreas is a newly recognized condition which is poorly investigated until today as compared to nonalcoholic fatty liver disease. It is characterized by pancreatic fat accumulation and subsequent development of pancreatic and metabolic complications. Association of fatty pancreas have been described with type 2 diabetes mellitus, acute and chronic pancreatitis and even pancreatic carcinoma. In this review article, we provide an update on clinical implications, pathogenesis, diagnosis, treatment and outcomes.

  1. Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. (United States)

    Killoran, C E; Abbott, M; McKusick, V A; Biesecker, L G


    The polydactyly, imperforate anus, vertebral anomalies syndrome (PIV, OMIM 174100) was determined as a distinct syndrome by Say and Gerald in 1968 (Say B, Gerald PS. Lancet 1968: 2: 688). We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, renal anomalies, imperforate anus, and hypothalamic hamartoma. Truncation mutations in GL13, a zinc finger transcription factor gene, have been shown to cause PHS. We performed a molecular evaluation on a patient diagnosed with PIV, whose mother, grandfather, and maternal aunt had similar malformations. We sequenced the GLI3 gene in the patient to determine if she had a mutation. The patient was found to have a deletion in nucleotides 2188-2207 causing a frameshift mutation that predicts a truncated protein product of the gene. Later clinical studies demonstrated that the patient also has a hypothalamic hamartoma, a finding in PHS. We concluded that this family had atypical PHS and not PIV. This result has prompted us to re-evaluate the PIV literature to see if PIV is a valid entity. Based on these data and our examination of the literature, we conclude that PIV is not a valid diagnostic entity. We conclude that patients diagnosed with PIV should be reclassified as having VACTERL, or PHS, or another syndrome with overlapping malformations.

  2. Stevens Johnson syndrome, toxic epidermal necrolysis and SJS-TEN overlap: A retrospective study of causative drugs and clinical outcome

    Directory of Open Access Journals (Sweden)

    Sharma Vinod


    Full Text Available Background and Aims: Stevens Johnson syndrome (SJS, toxic epidermal necrolysis (TEN and SJS-TEN overlap are serious adverse cutaneous drug reactions. Drugs are often implicated in these reactions. Methods: A retrospective analysis of inpatients′ data with these dermatological diagnoses were carried out for three years, to study the causative drugs, clinical outcome, and mortality in these conditions. Results: Thirty patients (15 TEN, nine SJS-TEN overlap, and six SJS were admitted. In 21 cases, multiple drugs were implicated whereas single drugs were responsible in nine. Anticonvulsants (35.08% were the most commonly implicated drugs followed by antibiotics (33.33% and NSAIDS (24.56%. Twenty-five patients recovered whereas five died (four TEN, one SJS-TEN overlap. Conclusion: Anticonvulsants, antibiotics and NSAIDs were the most frequently implicated drugs. TEN causes higher mortality than both SJS and SJS-TEN overlap.

  3. Multidrug efflux pumps in Staphylococcus aureus and their clinical implications. (United States)

    Jang, Soojin


    Antibiotic resistance is rapidly spreading among bacteria such as Staphylococcus aureus, an opportunistic bacterial pathogen that causes a variety of diseases in humans. For the last two decades, bacterial multidrug efflux pumps have drawn attention due to their potential association with clinical multidrug resistance. Numerous researchers have demonstrated efflux-mediated resistance in vitro and in vivo and found novel multidrug transporters using advanced genomic information about bacteria. This article aims to provide a concise summary of multidrug efflux pumps and their important clinical implications, focusing on recent findings concerning S. aureus efflux pumps.

  4. Convergent validity of MCMI-III clinical syndrome scales. (United States)

    Hesse, Morten; Guldager, Steen; Linneberg, Inger Holm


    This study tested the convergent validity of the Millon Clinical Multiaxial Inventory-III (MCMI-III) clinical syndrome scales. Cross-sectional survey. Using a sample of 186 substance abusers from one single town referred for assessment, convergent and discriminant validity of the MCMI-III and Mini International Neuropsychiatric Interview (MINI) diagnoses was conducted. Additional measures included the Montgomery-Åsberg Depression Rating Scale and the Beck Anxiety Inventory. A single Axis I factor based on the raw scores correlated adequately with the factor based on the other scales (r= .85), whereas the correlation between the factor based on the MCMI-III baserate scores was somewhat lower (r= .74), but still indicated substantial convergent validity. For individual disorders, area under the curve (AUC) analyses suggested that the convergent validity of the MCMI-III and the MINI was adequate. The raw score scales were superior to the baserate adjusted scores in all but one case. Discriminant validity was good for alcohol and drug dependence, moderate for major depression and delusion, and poor for thought disorder and anxiety. The MCMI-III clinical syndrome scales generally measure the constructs they were intended for. The data did not support that the adjustments used in calculating the baserate scores improved validity. ©2011 The British Psychological Society.

  5. Clinical phenomenology and mortality in Charles Bonnet syndrome. (United States)

    Lapid, Maria I; Burton, M Caroline; Chang, Megan T; Rummans, Teresa A; Cha, Stephen S; Leavitt, Jacqueline A; Boeve, Bradley F


    Despite existing diagnostic criteria for Charles Bonnet syndrome (CBS), clinical manifestations vary greatly. We examined the clinical course and mortality of patients diagnosed with CBS. We conducted a retrospective chart review of patients with CBS. We collected demographic and clinical information and medical burden scores. Kaplan-Meier mortality curves were compared using log-rank test. Cox proportional hazard model was used for multivariate analysis and hazard ratio (HR). Mortality was compared to expected mortality from Minnesota population. Seventy-seven patients with CBS had a mean age of 79.5 (standard deviation ± 13.0) and were predominantly Caucasian (97%) and female (73%). In all, 20 (26%) subsequently developed a dementia syndrome, most often Lewy body. A total of 46 (60%) deaths occurred with an average follow-up time of 33.0 months. Characteristics associated with mortality included older age (75-84 [HR 3.34, P = .029], >85 [HR 4.58, P = .007]) and renal disease (HR 3.39 with 95% confidence interval 1.31-8.80, P = .012). Medical burden scores were not associated with overall mortality. Mortality was high compared to Minnesota population (P < .0001). A large proportion of patients with CBS developed dementia, and there was a high mortality rate associated with older age and renal disease. Medical burden was not associated with mortality.

  6. Joubert syndrome: Clinical and radiological characteristics of nine patients

    Directory of Open Access Journals (Sweden)

    Ahmed Farag Elhassanien


    Full Text Available Background: Joubert Syndrome (JS is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Aim of the Study: To spotlight and increase awareness of clinical profile and neuroimaging findings of children with Joubert syndrome. Methods: This is a retrospective case series study of patients with JS who attended the Pediatric Neurology Clinic in Aladan and Alfarawanya Hospitals in Kuwait, from September 2007 to September 2012. Clinical and radiological data were obtained from the patient medical records. Results: Cerebellar vermis hypoplasia/aplasia and apnea were present in all patients, polydactly in 3 of 16, renal problems with cysts in 5 patients and 11 of 16 had abnormal electroretinograms (ERGs. Blood investigations of organic acids, amino acids and very-long-chain fatty acid, were normal in the all the nine patients. Conclusion: JS is a rare genetic brain malformation with association of retinal dystrophy and renal abnormalities. The retinal dystrophy may be progressive. The prognosis of patients depends mainly on the degree of brain malformation.

  7. The Natural History and Clinical Syndromes of Degenerative Cervical Spondylosis

    Directory of Open Access Journals (Sweden)

    John C. Kelly


    Full Text Available Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina narrowing. Narrowing of the spinal canal can result in spinal cord compression, ultimately resulting in cervical spondylosis myelopathy. This review article examines the current literature in relation to the cervical spondylosis and describes the three clinical syndromes of axial neck pain, cervical radiculopathy and cervical myelopathy

  8. The natural history and clinical syndromes of degenerative cervical spondylosis.

    LENUS (Irish Health Repository)

    Kelly, John C


    Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina narrowing. Narrowing of the spinal canal can result in spinal cord compression, ultimately resulting in cervical spondylosis myelopathy. This review article examines the current literature in relation to the cervical spondylosis and describes the three clinical syndromes of axial neck pain, cervical radiculopathy and cervical myelopathy.

  9. Clinical and molecular phenotype of Aicardi-Goutieres syndrome

    DEFF Research Database (Denmark)

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha


    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease...... identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from...

  10. Revised guidelines for the clinical management of Lynch syndrome (HNPCC)

    DEFF Research Database (Denmark)

    Vasen, Hans F A; Blanco, Ignacio; Aktan-Collan, Katja


    Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. In 2007, a group of European experts (the Mallorca group) published guidelines...... for the clinical management of LS. Since then substantial new information has become available necessitating an update of the guidelines. In 2011 and 2012 workshops were organised in Palma de Mallorca. A total of 35 specialists from 13 countries participated in the meetings. The first step was to formulate...

  11. The dark side of the QT interval. The Short QT Syndrome: pathophysiology, clinical presentation and management

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    I. Comelli


    Full Text Available A large number of studies has been carried out to investigate the pathophysiology and the clinical implications of QT interval prolongation in the ECG over recent years (1, 2, 3, 4, 5, 6. It was only in the last decade, however, that the scientists have focused on the specular aspects of the long QT syndrome (LQTS, and it is now well established that the abnormal shortening of the QT interval is associated with meaningful clinical consequences and adverse outcomes. The aim of the present article is to summarize knowledge and existing evidence about the Short QT Syndrome (SQTS. SQTS is a rare, albeit largely underdiagnosed, genetically determined disease, which is characterized by a high tendency to develop life-threatening arrhythmias. The two clinical landmarks of SQTS are the presence of a short QT interval (i.e., less than 320 ms in a structurally normal heart. The disease is now classified as a “channellopathy”, and is principally caused by a defective functioning of both potassium and calcium ion channels. The underlying genetic anomalies cause an abnormal ripolarization and a reduced refractoriness of myocardiocites. Pharmacologic treatments are mainly tailored to slow the conduction and to prolong the refractory period of myocardiocites. The implantable cardioverter and defibrillator (ICD is currently considered the therapeutic gold standard (7.

  12. Network analysis reveals distinct clinical syndromes underlying acute mountain sickness.

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    David P Hall

    Full Text Available Acute mountain sickness (AMS is a common problem among visitors at high altitude, and may progress to life-threatening pulmonary and cerebral oedema in a minority of cases. International consensus defines AMS as a constellation of subjective, non-specific symptoms. Specifically, headache, sleep disturbance, fatigue and dizziness are given equal diagnostic weighting. Different pathophysiological mechanisms are now thought to underlie headache and sleep disturbance during acute exposure to high altitude. Hence, these symptoms may not belong together as a single syndrome. Using a novel visual analogue scale (VAS, we sought to undertake a systematic exploration of the symptomatology of AMS using an unbiased, data-driven approach originally designed for analysis of gene expression. Symptom scores were collected from 292 subjects during 1110 subject-days at altitudes between 3650 m and 5200 m on Apex expeditions to Bolivia and Kilimanjaro. Three distinct patterns of symptoms were consistently identified. Although fatigue is a ubiquitous finding, sleep disturbance and headache are each commonly reported without the other. The commonest pattern of symptoms was sleep disturbance and fatigue, with little or no headache. In subjects reporting severe headache, 40% did not report sleep disturbance. Sleep disturbance correlates poorly with other symptoms of AMS (Mean Spearman correlation 0.25. These results challenge the accepted paradigm that AMS is a single disease process and describe at least two distinct syndromes following acute ascent to high altitude. This approach to analysing symptom patterns has potential utility in other clinical syndromes.

  13. [Syndrome X and surgical stress. A clinical case]. (United States)

    Parlapiano, C; Barletta, C; Cervellini, P; D'Angelo, P; Baccarini, S; Scavo, D


    The syndrome X is a clinical disease characterised by anginous pain with the absence of significant and angiographically visible stenosis of the coronary tree. D. P. M., a 61-year-old woman suffering from biliary lithiasis, underwent cholecystectomy. During the immediate postoperative period, the patient showed difficulty in regaining consciousness and there were electrocardiographic signs of extensive anterior ischemia; prior to the operation only a 1st degree atrio-ventricular block and a positive history of occasional precordial pain had been reported. On the 2nd postoperative day the patient complained of violent retrosternal pain irradiated to the left shoulder. Given that the signs of ischemia had regressed, various instrumental tests were performed: echocardiogram, cycloergometric test, dipyridamole test, cold pressure test, Holter's dynamic ECG, all of which were within the normal; moreover, selective coronarography did not reveal significant stenosis of the coronary tree. The patient was therefore diagnosed as suffering from syndrome X. In the light of the present case, the authors conclusion may be summarised as follows: the diagnosis of syndrome X, which is by definition not easy, may sometimes become critical, as in the present case, since rapid intervention would have enabled prophylactic therapy to be performed to combat surgical stress.

  14. The HELLP syndrome: Clinical issues and management. A Review

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    Svendsen Einar


    Full Text Available Abstract Background The HELLP syndrome is a serious complication in pregnancy characterized by haemolysis, elevated liver enzymes and low platelet count occurring in 0.5 to 0.9% of all pregnancies and in 10–20% of cases with severe preeclampsia. The present review highlights occurrence, diagnosis, complications, surveillance, corticosteroid treatment, mode of delivery and risk of recurrence. Methods Clinical reports and reviews published between 2000 and 2008 were screened using Pub Med and Cochrane databases. Results and conclusion About 70% of the cases develop before delivery, the majority between the 27th and 37th gestational weeks; the remainder within 48 hours after delivery. The HELLP syndrome may be complete or incomplete. In the Tennessee Classification System diagnostic criteria for HELLP are haemolysis with increased LDH (> 600 U/L, AST (≥ 70 U/L, and platelets 9/L. The Mississippi Triple-class HELLP System further classifies the disorder by the nadir platelet counts. The syndrome is a progressive condition and serious complications are frequent. Conservative treatment (≥ 48 hours is controversial but may be considered in selected cases

  15. [Constitutional syndrome: clinical entity or a mixed bag]. (United States)

    Suárez-Ortega, Saturnino; Puente-Fernández, Alicia; Santana-Baez, Sergio; Godoy-Díaz, Davinia; Serrano-Fuentes, Miriam; Sanz-Peláez, Oscar


    Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.

  16. Frequency and clinical, hormonal and ultrasonographic characteristics suggestive of polycystic ovarian syndrome in a group of females with metabolic syndrome

    International Nuclear Information System (INIS)

    Ovies Carballo, Gisel; Dominguez Alonso, Emma; Verdeja Varela, Olga L; Zamora Recinos, Hugo


    The polycystic ovarian syndrome is the most frequent endocrine affection in females at reproductive age. Nowadays, it is known that insulin resistance and consequent hyperinsulinism seem to be the basis of the disorders characterizing it. That's why, it is not erroneous to think that in females with metabolic syndrome, whose physiopathological bases are insulin resistance and hyperinsulinism, there may appear clinical, humoral and ultrasonographic elements of the polycystic ovarian syndrome


    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin


    Full Text Available The Lennox–Gastaut syndrome (LGS is an epileptic encephalopathy, starting in childhood and showing in often polymorphic seizures (including tonic axial ones, severe cognitive deficite, slow activity of the acute–slow wave in the interictal period at the electroencephalography (EEG, runs of fast activity of 10–20 Hz, often associated with tonic seizures, as well as with the resistance to therapy. According ILAE Classification of epilepsy syndromes and epilepsies 1989 LGS was referred to generalized cryptogenic or symptomatic forms of the epilepsy. According to Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy (2001 LGS is a classic representative of the group of childhood epileptic encephalopathies. LGS is a rather rare form of the epilepsy. The syndrome frequency makes from 1–4 to 6.6 % among all forms of the childhood epilepsy. LGS is subdivided into the cryptogenic and the symptomatic variants. From our point of view the latter it will be more correct to refer to the symptomatic focal epilepsy with the secondary bilateral synchrony phenomena at EEG. The LGS can be caused by cortical development defects, by perinatal encephalopathies, by brain tumors, by inherited metabolism diseases, by chromosomal anomalies, as well as by other factors. In case of the classic cryptogenic variant the ethiology of the LGS remains unknown. The disease onset is at the age of 2–8 y. o. In 20–40 % of cases LGS is transformed from the West syndrome. The LGS attribute is the polymorphism of seizures. The syndrome structure can combine tonic seizures, epileptic drop seizures, atypical absences, generalized tonic-clonic seizures. Focal seizures at LGS are a matter of argument. The article gives details on the clinical EEG criteria of LGS, the semiology of epileptic seizures in the syndrome structure, diagnostic and treatment approaches. The main accent is made on EEG peculiarities of the disease. The author presents the

  18. Compartment syndrome after total knee arthroplasty: regarding a clinical case

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    Ana Alexandra da Costa Pinheiro


    Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

  19. Miller-Fisher Syndrome: Are Anti-GAD Antibodies Implicated in Its Pathophysiology?

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    Ioannis E. Dagklis


    Full Text Available Miller-Fisher syndrome (MFS is considered as a variant of the Guillain-Barre syndrome (GBS and its characteristic clinical features are ophthalmoplegia, ataxia, and areflexia. Typically, it is associated with anti-GQ1b antibodies; however, a significant percentage (>10% of these patients are seronegative. Here, we report a 67-year-old female patient who presented with the typical clinical features of MFS. Workup revealed antibodies against glutamic acid decarboxylase (GAD in relatively high titers while GQ1b antibodies were negative. Neurological improvement was observed after intravenous gamma globulin and follow-up examinations showed a continuous clinical amelioration with simultaneous decline of anti-GAD levels which finally returned to normal values. This case indicates that anti-GAD antibodies may be associated with a broader clinical spectrum and future studies in GQ1b-seronegative patients could determine ultimately their clinical and pathogenetic significance in this syndrome.

  20. More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

    NARCIS (Netherlands)

    Corsten-Janssen, N; Saitta, S C; Hoefsloot, L H; McDonald-McGinn, D M; Driscoll, D A; Derks, R; Dickinson, K A; Kerstjens-Frederikse, W S; Emanuel, B S; Zackai, E H; van Ravenswaaij-Arts, C M A

    CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear abnormalities) and 22q11.2 deletion syndromes are variable, congenital malformation syndromes that show considerable phenotypic overlap. We further explored this clinical overlap

  1. Clinical and radiological manifestations of paraneoplastic syndrome of bronchogenic carcinoma

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    Goldner Branislav


    Full Text Available The objective of this study was to present some clinical and radiological manifestations of PNS in relation to bronchogenic carcinoma (BC and to evaluate the usefulness of imaging findings in the diagnosis of asymptomatic BC. In the study group of 204 patients (146 male and 58 female with proven bronchogenic carcinoma, PNS was present in 18 (8.62% patients. The patients with PNS were divided into two groups. The first one consisted of 13 (72.2% patients with symptoms related to primary tumours while the second one consisted of 5 (27.7% patients with symptoms, at initial appearance, indicative of disorders of other organs and systems. The predominant disorder was Lambert-Eaton Syndrome, associated with small-cell carcinoma. Endocrine manifestations included: inappropriate antidiuretic hormone production syndrome (small-cell carcinoma, a gonadotropin effect with gynaecomastia and testicular atrophy (planocellular carcinoma, small-cell carcinoma, a case of Cushing Syndrome (small-cell carcinoma, and hyper-calcaemia, due to the production of the parathyroid hormone-related peptide, which was associated with planocellular carcinoma. A rare case of bilateral exophthalmos was found as PNS at adenocarcinoma. Digital clubbing and hypertrophic osteoarthropathy (HO were associated with planocellular and adenocarcinoma, while clubbing was much more common than HO, especially among women. The differences between the two groups were related to the time of PNS appearance. In the first group, PNS occurred late on in the illness, while in the second group, PNS preceded the diagnosis of BC. Alternatively, the disappearance of a clinical or a radiological manifestation of PNS after surgery or chemotherapy may be an indicator of an improvement in health or PNS may be the first sign of illness recurrence. Radiological manifestations of PNS in asymptomatic patients may serve as a useful screen for identifying primary BC. In symptomatic patients, it may be an

  2. Clinical implications of methicillin-resistant Staphylococcus aureus in pregnancy. (United States)

    Beigi, Richard H


    Methicillin-resistant Staphylococcus aureus (MRSA) has become an increasingly aggressive and prevalent pathogen in medicine. This pattern has also been noted in obstetrics. This review will delineate the epidemiology and clinical implications of MRSA during pregnancy. Investigations have focused on prevalence of MRSA colonization in obstetrics and the associated morbidity. In addition, some attention has been focused on the neonatal implications of maternal colonization. Overall, the rates of maternal MRSA colonization noted in the United States have been low, in the range of 0.5-4%. The clinical impact of MRSA colonization among pregnant women has also been estimated to be modest. Roughly 357 invasive MRSA infections per 100,000 live births in the United States occur on an annual basis. It is however important to note that published estimates likely underestimate the full scope of MRSA in pregnancy given the lack of formal reporting, importance of related neonatal colonization and morbidity, the complicated treatment implications in pregnant women, the recognized high pathogenicity of MRSA infections, and propensity for recurrent infections among community-acquired MRSA strains. MRSA is an increasingly important pathogen in modern healthcare and in the obstetric population. Continued surveillance and research remains a top priority.

  3. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

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    Jill A Rosenfeld

    Full Text Available Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.

  4. Neuroretinitis: a clinical syndrome of cat-scratch disease. (United States)

    Rost Monahan S


    Cat-scratch disease is usually a benign self-limited illness, characterized by regional lymphadenopathy lasting between 3 and 6 weeks. The causative organism is Bartonella henselae, a small gram-negative rod. Between 1 and 2% of patients who contract the illness experience blurred vision, metamorphopsia and scotomas as a result of neuroretinitis, an associated clinical syndrome. The classical clinical findings in cat-scratch neuroretinitis include disc edema and a stellate pattern of exudates in the macula. However, a myriad of other signs has been documented, suggesting a much wider spectrum of intra-ocular disease. The following case report presents a young patient with neuroretinitis, and a history of lymphadenopathy secondary to cat-scratch disease.

  5. APECED syndrome in childhood: clinical spectrum is enlarging. (United States)

    Valenzise, Mariella; Alessi, Luca; Bruno, Enrico; Cama, Valeria; Costanzo, Daria; Genovese, Cristina; Mignosa, Cristina; Scuderi, Veronica; DE Luca, Filippo


    Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified.

  6. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes

    Energy Technology Data Exchange (ETDEWEB)

    Farrer, L.A.; Hoth, C. [Boston Univ. School of Medicine, MA (United States); Arnos, K.S. [Galludet Univ., Washington, DC (United States); Asher, J.H. Jr.; Friedman, T.B. [Michigan State Univ., East Lansing, MI (United States); Grundfast, K.M.; Lalwani, A.K. [National Institute on Deafness and Other Communication Disorders, Bethesda, MD (United States); Greenberg, J. [Univ. of Cape Town (South Africa); Diehl, S.R. [and others


    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3. 59 refs., 3 figs., 5 tabs.

  7. Horizontal fissure on neonatal plain chest radiographs: clinical implications

    International Nuclear Information System (INIS)

    Konarzewska, J.; Zawadzka-Kepczynska, A.; Bianek-Bodzak, A.; Kawinska-Kilianczyk, A.; Domzalska-Popadiuk, I.


    Regardless of etiology, pleural fluid, even in small amounts, can be visualized on the neonatal chest x-ray picture within pulmonary fissures. It remains unclear whether a marked horizontal fissure unaccompanied by any other radiological symptoms is of diagnostic value or not. Ninety-one consecutive neonatal chest radiographs with marked horizontal fissure were retrospectively analyzed. The images were made between 1999 and 2005 on 69 newborns admitted to the Neonatology Department, Institute of Obstetrics and Gynecology, Medical University of Gdansk. Analysis of the radiographs was conducted independently by three radiologists based on the following criteria: fissure thickness (marked or thickened), bronchovascular markings (increased or normal), size and shape of the heart (normal or abnormal), presence or absence of pulmonary infiltration, atelectasis, and changes related to wet lung syndrome. Due to divergent interpretations, the ultimate interpretation was established by consensus in 25 cases. The radiological findings were compared with clinical data. The compatibility of the three independent interpreters was statistically significant (p<0.0001). Marked transverse fissure was the only radiological finding on 66 x-rays. In 63 cases (69.2%) the children were asymptomatic as well. In 3 cases (3.3%) clinical symptoms of respiratory tract infection occurred. On the other 25 images, horizontal fissure was accompanied by other radiological symptoms. Chest x-ray results corresponded with clinical symptoms in 24 cases (26.4%). One child (1.1%) with radiological evidence of wet lung syndrome did not present any typical clinical symptoms of it. Horizontal fissure noted on a neonatal chest x-ray seems to be of minor diagnostic value if not accompanied by any other radiological symptoms. (author)

  8. Pisa Syndrome in Parkinson’s Disease: Electromyographic Aspects and Implications for Rehabilitation

    Directory of Open Access Journals (Sweden)

    Giuseppe Frazzitta


    Full Text Available Pisa Syndrome (PS is a real clinical enigma, and its management remains a challenge. In order to improve the knowledge about resting state and during maximal voluntary muscle contraction (MVMC of the axial muscles, we described the electromyography results of paraspinal muscles, rectus abdominis, external oblique, and quadratus lumborum of both sides of 60 patients. Electromyography was assessed at rest, during MVMC while bending in the opposite direction of the PS and during MVMC while bending in the direction of the PS. The MVMC gave information about the interferential pattern (INT or subinterferential pattern (sub-INT. We defined asymmetrical activation (AA when a sub-INT was detected on the muscle on the side opposite to the PS bending and an INT of same muscle in the direction of PS bending. We observed significant AA during MVMC only in the external oblique muscles in 78% of the subjects. Our results of asymmetric ability to generate maximal voluntary force of the external oblique muscles support a central dissynchronisation of axial muscles as a significant contributor for the bending of the spine in erect position. These results could have important implication to physiotherapy and the use of botulinum toxin in the treatment of PS.

  9. Metabolic syndrome in peritoneal dialysis patients: choice of diagnostic criteria and prognostic implications. (United States)

    Szeto, Cheuk-Chun; Kwan, Bonnie Ching-Ha; Chow, Kai-Ming; Leung, Chi-Bon; Cheng, Mei-Shan; Law, Man-Ching; Li, Philip Kam-Tao


    In the general population, metabolic syndrome (MES) is associated with cardiovascular risk. However, the definition of MES and its prognostic implication among patients undergoing peritoneal dialysis (PD) remain controversial. We studied 329 prevalent PD patients from April 2008 to April 2011 and compared four sets of diagnostic criteria: the original World Health Organization (WHO) criteria, the International Diabetes Federation (IDF) criteria, the original National Cholesterol Education Program (NCEP) criteria, and the modified NCEP criteria. Nutritional status, body composition, and arterial pulse-wave velocity were measured. Patients were followed for 31.7 ± 15.5 months. Among the 329 patients, 175 (53.2%) fulfilled the WHO criteria, 177 (53.8%) the IDF criteria, 199 (60.5%) the original NCEP criteria, and 218 (66.3%) the modified NCEP criteria. The agreement among the four sets of criteria was fair to moderate (Cohen κ=0.35-0.58). Patients with MES defined by all four criteria had higher adipose tissue mass than the others, although the difference in adipose tissue mass was most pronounced with the IDF criteria (MES versus no MES, 18.2 ± 7.9 versus 10.7 ± 5.9 kg; Pdefinition or clinical scoring system for risk stratification of PD patients.

  10. Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome (United States)

    Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé


    The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS. PMID:24916642

  11. Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. (United States)

    Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé


    The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.

  12. Implications of caries diagnostic strategies for clinical management decisions

    DEFF Research Database (Denmark)

    Baelum, Vibeke; Hintze, Hanne; Wenzel, Ann


    OBJECTIVES: In clinical practice, a visual-tactile caries examination is frequently supplemented by bitewing radiography. This study evaluated strategies for combining visual-tactile and radiographic caries detection methods and determined their implications for clinical management decisions...... that the visual-tactile method alone was the superior strategy, resulting in most correct clinical management decisions and most correct decisions regarding the choice of treatment.......-specificity) were calculated for each diagnostic strategy. RESULTS: Visual-tactile examination provided a true-positive rate of 34.2% and a false-positive rate of 1.5% for the detection of a cavity. The combination of a visual-tactile and a radiographic examination using the lesion in dentin threshold...

  13. [Clinical features and comorbidities of Asperger syndrome in children]. (United States)

    Fu, Xiao-Yan; Xie, Xiao-Tian; Mei, Zhu; Cheng, Wen-Hong


    To investigate and summarize the clinical features and comorbidities of Asperger syndrome (AS) in children and to provide a theoretical basis for improving the understanding and diagnosis of AS. Inquiry of medical history, physical examination, behavioral observation, psychiatric examination, questionnaire survey, and the Wechsler Intelligence Scale were used to summarize and analyse the clinical data of 95 children with AS, including chief complaint, symptoms, perinatal and familial conditions, family genetic history, and common comorbidities. AS was more common in male children, with hyperactivity, inattention, and social withdrawal as frequent chief complaints. The main clinical manifestations included poor communication skills (95%), restricted interest (82%), repetitive and stereotyped patterns of behavior (77%), semantic comprehension deficit (74%), and indiscipline (68%). Verbal IQ was higher than performance IQ in most patients. The comorbidities of AS included attention deficit hyperactivity disorder (ADHD) (39%), emotional disorder (18%), and schizophrenia (2%); emotional disorder was more common in patients aged 13-16 years, while ADHD was more common in patients aged 7-16 years. Among these patients, 61% had fathers with introverted personality, 43% had mothers with introverted personality, and 19% had a family history of mental illness. AS has specific clinical manifestations. It is essential to know more about the clinical features and comorbidities of AS, which is helpful for early identification and diagnosis of AS.

  14. Moyamoya disease and syndromes: from genetics to clinical management

    Directory of Open Access Journals (Sweden)

    Guey S


    Full Text Available Stéphanie Guey,1,3 Elisabeth Tournier-Lasserve,1,2 Dominique Hervé,1,3 Manoelle Kossorotoff4 1Inserm UMR-S1161, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, Paris, France; 2AP-HP, Groupe hospitalier Lariboisière-Saint-Louis, Service de génétique neurovasculaire, Paris, France; 3Service de Neurologie, Centre de Référence des maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO, Groupe Hospitalier Saint-Louis Lariboisière-Fernand Widal, Assistance Publique-Hôpitaux de Paris, Paris, France; 4Pediatric Neurology Department, French Center for Pediatric Stroke, University Hospital Necker-Enfants Malades, AP-HP Assistance publique-Hôpitaux de Paris, Paris, France Abstract: Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI, magnetic resonance angiography (MRA conventional angiography, and cerebral hemodynamics measurements

  15. The primary vascular dysregulation syndrome: implications for eye diseases (United States)


    Vascular dysregulation refers to the regulation of blood flow that is not adapted to the needs of the respective tissue. We distinguish primary vascular dysregulation (PVD, formerly called vasospastic syndrome) and secondary vascular dysregulation (SVD). Subjects with PVD tend to have cold extremities, low blood pressure, reduced feeling of thirst, altered drug sensitivity, increased pain sensitivity, prolonged sleep onset time, altered gene expression in the lymphocytes, signs of oxidative stress, slightly increased endothelin-1 plasma level, low body mass index and often diffuse and fluctuating visual field defects. Coldness, emotional or mechanical stress and starving can provoke symptoms. Virtually all organs, particularly the eye, can be involved. In subjects with PVD, retinal vessels are stiffer and more irregular, and both neurovascular coupling and autoregulation capacity are reduced while retinal venous pressure is often increased. Subjects with PVD have increased risk for normal-tension glaucoma, optic nerve compartment syndrome, central serous choroidopathy, Susac syndrome, retinal artery and vein occlusions and anterior ischaemic neuropathy without atherosclerosis. Further characteristics are their weaker blood–brain and blood-retinal barriers and the higher prevalence of optic disc haemorrhages and activated astrocytes. Subjects with PVD tend to suffer more often from tinnitus, muscle cramps, migraine with aura and silent myocardial ischaemic and are at greater risk for altitude sickness. While the main cause of vascular dysregulation is vascular endotheliopathy, dysfunction of the autonomic nervous system is also involved. In contrast, SVD occurs in the context of other diseases such as multiple sclerosis, retrobulbar neuritis, rheumatoid arthritis, fibromyalgia and giant cell arteritis. Taking into consideration the high prevalence of PVD in the population and potentially linked pathologies, in the current article, the authors provide

  16. Clinical implications of panic symptoms in dental phobia. (United States)

    Potter, Carrie M; Kinner, Dina G; Tellez, Marisol; Ismail, Amid I; Heimberg, Richard G


    The occurrence of panic symptoms in various anxiety disorders has been associated with more severely impaired and difficult-to-treat cases, but this has not been investigated in dental phobia. We examined the clinical implications of panic symptoms related to sub-clinical and clinically significant dental phobia. The sample consisted of 61 patients at a university dental clinic who endorsed symptoms of dental phobia, 25 of whom met criteria for a formal diagnosis of dental phobia. Participants with dental phobia endorsed more panic symptoms than did those with sub-clinical dental phobia. In the total sample, greater endorsement of panic symptoms was associated with higher dental anxiety, more avoidance of dental procedures, and poorer oral health-related quality of life. Among those with dental phobia, certain panic symptoms exhibited associations with specific anxiety-eliciting dental procedures. Panic symptoms may serve as indicators of clinically significant dental phobia and the need for augmented treatment. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. The role of ion channelopathies in sudden cardiac death: implications for clinical practice. (United States)

    Martin, Claire A; Huang, Christopher L-H; Matthews, Gareth D K


    Sudden cardiac death (SCD) following ventricular tachyarrhythmias constitutes an important clinical cause of mortality; 4% of cases may involve ion channel-mediated cellular excitation in structurally normal hearts. Alterations in such processes could disturb action potential conduction, depolarization/ repolarization gradients, or Ca(2+) homeostasis with potential arrhythmogenic consequences. Although SCD may be the first presentation of arrhythmic syndromes, patients may present to the general physician with symptoms of palpitations or hemodynamic compromise, including dizziness, seizure, or syncope, particularly following exertion. In all inherited cardiac death syndromes, first-degree relatives should be referred to a cardiologist and should undergo testing appropriate for the condition. While management of patients at risk of SCD largely centers on risk stratification and, if necessary, insertion of an implantable cardioverter-defibrillator, there are a number of other, pharmacological, treatments being developed. Furthermore, as the genetic basis of these diseases becomes established, genetic testing will form an increasingly important part of diagnosis, and gene-specific therapy is an area under investigation. This article bridges the gap between molecular medicine and clinical practice by reviewing recent developments in the pathophysiological understanding of SCD, and their implications for the management of patients with these complex diseases.

  18. Genetics of the cardiometabolic syndrome: new insights and therapeutic implications. (United States)

    Sookoian, Silvia; Pirola, Carlos J


    Although the definition of the phenotype is imprecise, cardiometabolic syndrome (CMS) includes a constellation of complex diseases such as type 2 diabetes, dislipidemias, central obesity and hypertension, proinflammatory and prothrombotic states, ovarian polycystosis and fatty liver. The genetics of each disease is complex in itself and varies in spectrum from monogenic and syndromic models of inheritance, usually rare, to the most common polygenic and multifactorial forms. In addition, human studies using the candidate-gene approach indicate that common genetic variants of several genes are associated with the development of CMS. Genome-wide scans have also provided several chromosomal regions associated with some of the components of CMS. In addition, through comparative genomics animal models can generate a map for candidate loci in humans and a promising approach is offered by bioinformatic tools for gene prioritization. Lastly, the involvement of genes whose products are already the targets for approved drugs, such as SLC6A4, PPARalpha and PPARgamma , in the development of CMS suggests new avenues for CMS pharmacological treatment.

  19. The pediatric nephrotic syndrome spectrum: Clinical homogeneity and molecular heterogeneity


    Schachter, Asher D.


    Idiopathic nephrotic syndrome is the most common glomerular disorder of childhood. Recurrence of nephrotic syndrome immediately following renal transplantation is rapid, results in a high rate of graft loss, and represents the most severe form of nephrotic syndrome. This review discusses the molecular heterogeneity of pediatric nephrotic syndrome across the spectrum of disease activity. A schema is offered for a molecular approach to pediatric nephrotic syndrome, including immune-mediated and...

  20. Solitary rectal ulcer syndrome: demographic, clinical, endoscopic and histological panorama

    International Nuclear Information System (INIS)

    Abbasi, A.; Bhutto, K. A.R.; Baloch, A.


    To assess the demographic, clinical, endoscopic and histological spectrum of Solitary Rectal Ulcer Syndrome (SRUS). Study Design: Cross-sectional observational study. Place and Duration of Study: Medical Unit-III, Civil Hospital Karachi (CHK) and Ward 7, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from January 2009 to June 2012. Methodology: Patients with SRUS, based on characteristic endoscopic and histological findings, were enrolled. Patients were excluded if they had other causes of the rectal lesions (neoplasm, infection, inflammatory bowel disease, and trauma). Endoscopically, lesions were divided on the basis of number (solitary or multiple) and appearance (ulcerative, polypoidal/nodular or erythematous mucosa). Demographic, clinical and endoscopic characteristics of subjects were evaluated. Results: Forty-four patients met the inclusion criteria; 21 (47.7%) were females and 23 (52.3%) were males with overall mean age of 33.73 ±13.28 years. Symptom-wise 41 (93.2%) had bleeding per rectum, 39 (88.6%) had mucous discharge, 34 (77.3%) had straining, 34 (77.3%) had constipation, 32 (72.7%) had tenesmus, 5 (11.4%) had rectal prolapse and 2 (4.5%) had fecal incontinence. Twelve (27.27%) patients presented with hemoglobin less 10 gm/dl, 27 (61.36%) with 10 - 12 gm/dl and 05 (11.36%) subjects had hemoglobin more than 12 gm/dl. Endoscopically, 26 (59.1%) patients had mucosal ulceration, 11 (25.0%) had mucosal ulceration with polypoid characteristics; while only polypoid features were found in 7 (15.9%) subjects. Conclusion: Solitary rectal ulcer syndrome affects adults of both genders with diverse clinical presentation and nonspecific endoscopic features. (author)

  1. Fragile X syndrome: a review of clinical and molecular diagnoses. (United States)

    Ciaccio, Claudia; Fontana, Laura; Milani, Donatella; Tabano, Silvia; Miozzo, Monica; Esposito, Susanna


    Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. The aim of this review was to gather the current clinical and molecular knowledge about FXS to provide clinicians with a tool to guide the initial assessment and follow-up of FXS and to offer to laboratory workers and researchers an update about the current diagnostic procedures. FXS is a well-known condition; however, most of the studies thus far have focused on neuropsychiatric features. Unfortunately, some of the available studies have limitations, such as the paucity of patients enrolled or bias due to the collection of the data in a single-country population, which may be not representative of the average global FXS population. In recent years, insight into the adult presentation of the disease has progressively increased. Pharmacological treatment of FXS is essentially symptom based, but the growing understanding of the molecular and biological mechanisms of the disease are paving the way to targeted therapy, which may reverse the effects of FMRP deficiency and be a real cure for the disease itself, not just its symptoms. The clinical spectrum of FXS is wide, presenting not only as an isolated intellectual disability but as a multi-systemic condition, involving predominantly the central nervous system but potentially affecting any apparatus. Given the relative high frequency of the condition and its complex clinical management, FXS appears to have an important economic and social burden.

  2. Solitary Rectal Ulcer Syndrome: Demographic, Clinical, Endoscopic and Histological Panorama. (United States)

    Abbasi, Amanullah; Bhutto, Abdul Rabb; Taj, Ali; Aurangzaib; Baloch, Akhtar; Masroor, Muhammad; Munir, S M


    To assess the demographic, clinical, endoscopic and histological spectrum of Solitary Rectal Ulcer Syndrome (SRUS). Cross-sectional observational study. Medical Unit-III, Civil Hospital Karachi (CHK) and Ward 7, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from January 2009 to June 2012. Patients with SRUS, based on characteristic endoscopic and histological findings, were enrolled. Patients were excluded if they had other causes of the rectal lesions (neoplasm, infection, inflammatory bowel disease, and trauma). Endoscopically, lesions were divided on the basis of number (solitary or multiple) and appearance (ulcerative, polypoidal/nodular or erythematous mucosa). Demographic, clinical and endoscopic characteristics of subjects were evaluated. Forty-four patients met the inclusion criteria; 21 (47.7%) were females and 23 (52.3%) were males with overall mean age of 33.73 ±13.28 years. Symptom-wise 41 (93.2%) had bleeding per rectum, 39 (88.6%) had mucous discharge, 34 (77.3%) had straining, 34 (77.3%) had constipation, 32 (72.7%) had tenesmus, 5 (11.4%) had rectal prolapse and 2 (4.5%) had fecal incontinence. Twelve (27.27%) patients presented with hemoglobin less 10 gm/dl, 27 (61.36%) with 10 - 12 gm/dl and 05 (11.36%) subjects had hemoglobin more than 12 gm/dl. Endoscopically, 26 (59.1%) patients had mucosal ulceration, 11 (25.0%) had mucosal ulceration with polypoid characteristics; while only polypoid features were found in 7 (15.9%) subjects. Solitary rectal ulcer syndrome affects adults of both genders with diverse clinical presentation and nonspecific endoscopic features.

  3. Freud's Jocasta and Sophocles' Jocasta: clinical implications of the difference. (United States)

    Naiman, J


    Evidence is presented that the Jocasta Sophocles depicted in Oedipus Rex is significantly different from the Jocasta of Freud's synopsis of the play. Sophocles' Jocasta prefers her son to her husband and this preference results in parricide and incest. The clinical implications of this difference are discussed in relation to a group of patients whose mothers resembled Sophocles' Jocasta. The analysis of one such patient is briefly presented. All these patients had difficulties at work and in their psychosexual development. It is argued that these difficulties resulted from the mother's attitude interfering with the dissolution of the Oedipus complex and that quite severe pathology does not necessarily mean pre-oedipal conflicts.

  4. The epigenomics of polycystic ovarian syndrome: from pathogenesis to clinical manifestations

    DEFF Research Database (Denmark)

    Li, Shuxia; Zhu, Dongyi; Duan, Hongmei


    Polycystic ovarian syndrome (PCOS) is a complex condition of ovarian dysfunction and metabolic abnormalities with widely varying clinical manifestations resulting from interference of the genome and the environment through integrative biological mechanisms with the emerging field of epigenetics...... offering an appealing tool for studying the nature and nurture of the disease. We review the current literature of epigenetic studies on PCOS from disease development to the association analysis of the DNA methylome and to exploratory studies on the molecular mechanisms of disease heterogeneity...... and epigenomics could serve to link molecular regulatory mechanisms with disease development and disease manifestation which could contribute to PCOS prevention and treatment and eventually promote reproductive health in fertile age women. We summarize the up-to-date findings and discuss the implications...

  5. Implications of inaccurate clinical nodal staging in pancreatic adenocarcinoma. (United States)

    Swords, Douglas S; Firpo, Matthew A; Johnson, Kirsten M; Boucher, Kenneth M; Scaife, Courtney L; Mulvihill, Sean J


    Many patients with stage I-II pancreatic adenocarcinoma do not undergo resection. We hypothesized that (1) clinical staging underestimates nodal involvement, causing stage IIB to have a greater percent of resected patients and (2) this stage-shift causes discrepancies in observed survival. The Surveillance, Epidemiology, and End Results (SEER) research database was used to evaluate cause-specific survival in patients with pancreatic adenocarcinoma from 2004-2012. Survival was compared using the log-rank test. Single-center data on 105 patients who underwent resection of pancreatic adenocarcinoma without neoadjuvant treatment were used to compare clinical and pathologic nodal staging. In SEER data, medium-term survival in stage IIB was superior to IB and IIA, with median cause-specific survival of 14, 9, and 11 months, respectively (P < .001). Seventy-two percent of stage IIB patients underwent resection vs 28% in IB and 36% in IIA (P < .001). In our institutional data, 12.4% of patients had clinical evidence of nodal involvement vs 69.5% by pathologic staging (P < .001). Among clinical stage IA-IIA patients, 71.6% had nodal involvement by pathologic staging. Both SEER and institutional data support substantial underestimation of nodal involvement by clinical staging. This finding has implications in decisions regarding neoadjuvant therapy and analysis of outcomes in the absence of pathologic staging. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Clinical utility of metabolic syndrome severity scores: considerations for practitioners

    Directory of Open Access Journals (Sweden)

    DeBoer MD


    Full Text Available Mark D DeBoer,1,2 Matthew J Gurka2 11Division of Pediatric Endocrinology, Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA, 2Department of Health Outcomes and Policy, College of Medicine, University of Florida, Gainesville, FL, USA Abstract: The metabolic syndrome (MetS is marked by abnormalities in central obesity, high blood pressure, high triglycerides, low high-density lipoprotein-cholesterol, and high fasting glucose and appears to be produced by underlying processes of inflammation, oxidative stress, and adipocyte dysfunction. MetS has traditionally been classified based on dichotomous criteria that deny that MetS-related risk likely exists as a spectrum. Continuous MetS scores provide a way to track MetS-related risk over time. We generated MetS severity scores that are sex- and race/ethnicity-specific, acknowledging that the way MetS is manifested may be different by sex and racial/ethnic subgroup. These scores are correlated with long-term risk for type 2 diabetes mellitus and cardiovascular disease. Clinical use of scores like these provide a potential opportunity to identify patients at highest risk, motivate patients toward lifestyle change, and follow treatment progress over time. Keywords: metabolic syndrome, insulin resistance, cardiovascular disease, type 2 diabetes, risk prediction

  7. Clinical findings in obligate carriers of type I Usher syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wagenaar, M.; Rahe, B. ter; Aarem, A. van; Huygen, P.; Admiraal, R. [University Hospital Nijmegen (Netherlands)] [and others


    Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. 29 refs., 1 fig., 3 tabs.

  8. Gabapentin enacarbil – clinical efficacy in restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Pinky Agarwal


    Full Text Available Pinky Agarwal1, Alida Griffith1, Henry R Costantino2, Narendra Vaish31Booth Gardner Parkinson’s Center, Kirkland, WA, USA; 2Costantino Consulting, Woodinville, WA, USA; 3Kirkland, WA, USAAbstract: Restless legs syndrome (RLS is a sleep-related movement disorder commonly involving an unpleasant urge to move the limbs, typically the legs. Dopaminergic agents represent the first-line therapy for RLS; however, long-term use of such drugs results in worsening symptoms due to “augmentation” or other adverse events. Gabapentin, an analog of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA, is an anticonvulsant/analgesic agent. Gabapentin is only mildly effective in relieving RLS symptoms, perhaps a result of its poor absorption from the gastrointestinal (GI tract. Gabapentin enacarbil is a prodrug of gabapentin specifically designed to enhance absorption via the GI tract, and hence provide improved circulating levels of gabapentin on metabolism. Clinical trials to date have demonstrated favorable safety and (compared to traditional gabapentin improved pharmacokinetics and efficacy in treating RLS symptoms. Thus, gabapentin enacarbil may prove to be a useful drug in treating RLS. An application of gabapentin enacarbil for treatment of RLS is currently pending with FDA for approval.Keywords: restless legs syndrome, gabapentin enacarbil, movement disorder


    Directory of Open Access Journals (Sweden)

    K. Yu. Mukhin


    Full Text Available Pseudo-Lennox syndrome (PLS, or atypical benign partial epilepsy of childhood, is a disease from a group of age-related epileptic encephalopathies with a phenomenon of continuous spike-wave activity during slow sleep, which manifests itself as frequent polymorphic focal motor and pseudogeneralized seizures, cognitive impairments, as well as regional and diffuse epileptiform activity on electroencephalogram (EEG by the morphology identical to that of benign epileptiform patterns of childhood. The disease was first described by J. Aicardi and J. J. Chevrie in 1982, based on a study of 7 cases. Its diagnostic complexity is the polymorphism of both epileptic seizures and EEG data, as well as low awareness of the syndrome among physicians and its absence in the international classification of epilepsies. The typical triad of seizures, which occurs in nearly 100 % of patients, encompasses focal motor paroxysms (identical to those as observed in Rolandic epilepsy, atypical absences, and atonic seizures. Seizures in PLS in its active period (generally up to 7–8 years are highly resistant to antiepileptic drugs. Only a few agents have been proven to be effective in PLS; these include valproates, succinimides, benzodiazepines, topiramate, and sulthiame. The frequency of seizures are noted to increase in patients with PLS treated with drugs, such as vigabatrin, gabapentin, lamotrigine, phenobarbital, or phenytoin. The author considers in detail the history of studies of the disease, clinical manifestations, diagnostic criteria, therapeutic approaches, and prognosis.

  10. Psychiatric implications of obstructive sleep apnea-hypopnea syndrome (OSAHS

    Directory of Open Access Journals (Sweden)

    Franklin Escobar-Córdoba


    Full Text Available Sleep apnea is a syndrome that affects multiple systems and produces varied symptoms. This article reviews the most frequent psychiatric illnesses associated with this condition, as well as the need for an adequate diagnosis and an interdisciplinary treatment. The most common entity observed in patients with sleep apnea is depression, probably caused by sleep fragmentation, which alters the production of neurotransmitters in the brain. Anxiety is the second most common entity, perhaps, due to the release of catecholamines at night. Other symptoms associated with sleep apnea can be found, and should be reviewed and improved with appropriate treatment; addressing such symptoms could also improve the quality of life of patients, since attention, concentration and memory would increase or decrease irritability and other symptoms.

  11. Point-of-care testing for chlamydia and gonorrhoea: implications for clinical practice.

    Directory of Open Access Journals (Sweden)

    Lisa Natoli

    Full Text Available Point-of-care (POC testing for chlamydia (CT and gonorrhoea (NG offers a new approach to the diagnosis and management of these sexually transmitted infections (STIs in remote Australian communities and other similar settings. Diagnosis of STIs in remote communities is typically symptom driven, and for those who are asymptomatic, treatment is generally delayed until specimens can be transported to the reference laboratory, results returned and the patient recalled. The objective of this study was to explore the clinical implications of using CT/NG POC tests in routine clinical care in remote settings.In-depth qualitative interviews were conducted with a purposively selected group of 18 key informants with a range of sexual health and laboratory expertise.Participants highlighted the potential impact POC testing would have on different stages of the current STI management pathway in remote Aboriginal communities and how the pathway would change. They identified implications for offering a POC test, specimen collection, conducting the POC test, syndromic management of STIs, pelvic inflammatory disease diagnosis and management, interpretation and delivery of POC results, provision of treatment, contact tracing, management of client flow and wait time, and re-testing at 3 months after infection.The introduction of POC testing to improve STI service delivery requires careful consideration of both its advantages and limitations. The findings of this study will inform protocols for the implementation of CT/NG POC testing, and also STI testing and management guidelines.

  12. Point-of-Care Testing for Chlamydia and Gonorrhoea: Implications for Clinical Practice (United States)

    Natoli, Lisa; Maher, Lisa; Shephard, Mark; Hengel, Belinda; Tangey, Annie; Badman, Steven G.; Ward, James; Guy, Rebecca J.


    Objectives Point-of-care (POC) testing for chlamydia (CT) and gonorrhoea (NG) offers a new approach to the diagnosis and management of these sexually transmitted infections (STIs) in remote Australian communities and other similar settings. Diagnosis of STIs in remote communities is typically symptom driven, and for those who are asymptomatic, treatment is generally delayed until specimens can be transported to the reference laboratory, results returned and the patient recalled. The objective of this study was to explore the clinical implications of using CT/NG POC tests in routine clinical care in remote settings. Methods In-depth qualitative interviews were conducted with a purposively selected group of 18 key informants with a range of sexual health and laboratory expertise. Results Participants highlighted the potential impact POC testing would have on different stages of the current STI management pathway in remote Aboriginal communities and how the pathway would change. They identified implications for offering a POC test, specimen collection, conducting the POC test, syndromic management of STIs, pelvic inflammatory disease diagnosis and management, interpretation and delivery of POC results, provision of treatment, contact tracing, management of client flow and wait time, and re-testing at 3 months after infection. Conclusions The introduction of POC testing to improve STI service delivery requires careful consideration of both its advantages and limitations. The findings of this study will inform protocols for the implementation of CT/NG POC testing, and also STI testing and management guidelines. PMID:24956111

  13. Clinical association: Lyme disease and Guillain-Barre syndrome. (United States)

    Patel, Kinner; Shah, Siddharth; Subedi, Dinesh


    Guillain-Barre Syndrome (GBS) is a life-threatening condition in which patients may present to the Emergency Department in respiratory distress leading to death. The early identification and treatment of such a condition is paramount in preventing mortality. While there are many infections associated with GBS, the association with Lyme disease is uncommon. Through our case we aim to highlight Borrelia burgdorferi as an important antecedent infection associated with the development of GBS. In this case we report a 31-year-old male who was diagnosed with Lyme disease and GBS with relevant clinical presentation including progressive numbness and weakness in bilateral hands and feet for the past 1week along with areflexia. Initiation of medical therapy with intravenous immunoglobulin and parenteral ceftriaxone resulted in resolution of his symptoms. The treatment of both diseases early can help prevent further central nervous complications leading to high morbidity and mortality. Copyright © 2017 Elsevier Inc. All rights reserved.


    Directory of Open Access Journals (Sweden)

    E. V. Malinina


    Full Text Available Showed a rare case of atypical forms of Rett syndrome in girl adolescent. The peculiarity of the disease was in the late manifestation of clinical symptoms (6 years old, when there was autistic behavior and regression in development, as well as rare stereotypical hand movements, with characteristic changes in the EEG as benign epileptiform patterns of childhood. In adolescence (12 years there were episodes of hyperventilation and arrest breathing, deformation of the back, inappropriate laughter and screams. Was found mutation in the heterozygous state (s.674>G / N in the gene MECP2 (exons 1–4 by the method of direct automatic sequencing.

  15. Clinical presentation and management of neonatal abstinence syndrome: an update

    Directory of Open Access Journals (Sweden)

    Ordean A


    Full Text Available Alice Ordean,1 Brian C Chisamore21Department of Family Medicine, 2Department of Pediatrics, St Joseph's Health Centre, and University of Toronto, Toronto, ON, CanadaAbstract: Exposure to prescription medications and illicit drug use during pregnancy has been associated with neonatal abstinence syndrome. The clinical presentation consists of neurological respiratory, gastrointestinal, and vasomotor disturbances. All infants require observation and supportive care to ensure appropriate adaptation and growth in the newborn period. A smaller percentage may also require additional pharmacotherapy, depending on the specific gestational substance exposure. Women should be counseled antenatally about the possible neonatal effects, and mother–baby dyad care should be implemented for this particular patient population.Keywords: neonatal withdrawal, opioids, marijuana, cocaine, benzodiazepines, selective serotonin reuptake inhibitors

  16. Overlapping Clinical Features Between NAFLD and Metabolic Syndrome in Children

    Directory of Open Access Journals (Sweden)

    Anna Alisi


    Full Text Available Non-alcoholic fatty liver disease (NAFLD is a cluster of pathological liver conditions of emerging importance in overweight and obese children. NAFLD is associated with central obesity, insulin resistance, and dyslipidaemia, which are considered to be the main features of metabolic syndrome (MetS. Prevention of the adverse outcomes of NAFLD, as well as the risk of MetS, depends on the identification of genetic background and environmental factors that modulate susceptibility to these diseases. However, several lines of evidence highlight the strong correlation and co-currency of these two chronic diseases, both in children and in adults. In the present review, we provide an overview of the current clinical proofs on the link between NAFLD and MetS in children, with particular focus on all the possible overlapping features that connect them at paediatric age.

  17. Cognitive impairment in patients with clinically isolated syndrome

    Directory of Open Access Journals (Sweden)

    Carolina Fiorin Anhoque

    Full Text Available ABSTRACT Cognitive abnormalities have been extensively studied in Multiple Sclerosis (MS. However, little is known about the cognitive involvement in patients with Clinically Isolated Syndrome (CIS. Objective: This study aimed to investigate cognitive impairment in patients with CIS compared with healthy subjects. Methods: 18 CIS patients and 18 controls were subjected to the Wechsler memory scale, Rey Auditory Verbal Learning, Rey Complex Figure, Paced Auditory Serial Addition, Digit Span, verbal fluency, Stroop color card test, D2, and Digit Symbol tests. Results: CIS patients had significantly worse performance on the Paced Auditory Serial Addition Test (PASAT 2 seconds (P=0.009 and on verbal fluency tests (P=0.0038 than controls. Conclusion: CIS patients had worse cognitive performance than controls on neuropsychological tests evaluating executive functioning.

  18. Free amino acids in fibromyalgia syndrome: relationship with clinical picture. (United States)

    Ruggiero, Valeria; Mura, Massimiliano; Cacace, Enrico; Era, Benedetta; Peri, Marcella; Sanna, Giuseppina; Fais, Antonella


    The objectives of our study were to evaluate free amino acid (FAA) concentrations in the serum of patients affected by fibromyalgia syndrome (FMS) and to determine the relationships between FAA levels and FMS clinical parameters. Thus, serum amino acid concentrations were quantified (HPLC analysis) in 23 females with fibromyalgia (according to the American College of Rheumatology classification criteria) and 20 healthy females. The results showed significantly higher serum concentrations of aspartate, cysteine, glutamate, glycine, isoleucine, leucine, methionine, ornithine, phenylalanine, sarcosine, serine, taurine, tyrosine and valine in FMS patients vs. healthy controls. Patients with higher Fibromyalgia Impact Questionnaire (FIQ) scores showed increased levels of alanine, glutamine, isoleucine, leucine, phenylalanine, proline and valine. In conclusion, our results indicate an imbalance in some FAAs in FMS patients. Increased Glu is particularly interesting, as it could explain the deficit in monoaminergic transmission involved in pain.

  19. Diet and Sleep Physiology: Public Health and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Sarah Frank


    Full Text Available This mini-review examines the complex relationship between diet and sleep and explores the clinical and public health implications of the current evidence. Dietary quality and intake of specific nutrients can impact regulatory hormonal pathways to alter sleep quantity and quality. Sleep, in turn, affects the intake of total energy, as well as of specific foods and nutrients, through biological and behavioral mechanisms. Initial research in this field focused primarily on the effects of short sleep duration on nutritional quality. However, more recent studies have explored the dynamic relationship between long sleep duration and diet. Current evidence suggests that extremes of sleep duration alter sleep patterns, hormonal levels, and circadian rhythms, which contribute to weight-related outcomes and obesity, and other risk factors for the development of chronic disease such as type 2 diabetes and cardiovascular disease. These patterns may begin as early as childhood and have impacts throughout the life course. Given that non-communicable diseases are among the leading causes of death globally, deeper understanding of the interactions between sleep and nutrition has implications for both public health and clinical practice.

  20. Distribution of Clinical Symptoms in Carpal Tunnel Syndrome

    International Nuclear Information System (INIS)

    Rouq, F. A.; Ahmed, T. S.; Meo, I. M. U.; Al-Dress, A. M.; Meo, S. A.


    Objective: To determine the distribution of clinical symptoms based on the gender and age of patients with Carpel Tunnel Syndrome (CTS). Study Design: A cross-sectional observational study. Place and Duration of Study: Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, from April 2009 to June 2011. Methodology: Two hundred and twenty seven subjects with carpal tunnel syndrome symptom were recruited. CTS was diagnosed based on the clinical history and examination. For further confirmation of CTS symptoms, nerve conduction studies (NCS) were conducted. Results: There were 67 (29.5%) males and 160 (70.5%) females with mean age of 47.79 A +- 5.53 years. Distributions of symptoms were 34.3% at the level of whole three lateral fingers, 14.9% were at the level of hand and forearm, was common in males compared to females. However, 48.8% symptoms at the level of whole hand, and 11.3% at the tips of the three lateral fingers were common in females compared to males. Distribution of symptoms in the whole three lateral fingers (41.6%) were significantly higher (p = 0.0001) in patients who were more than 50 years of age and symptoms at the level of wrist region (12.7%) were significantly higher (p = 0.001) in patients with age group less than 50 years. Conclusion: The distribution of CTS symptoms at the level of whole of three lateral fingers, hand and forearm were higher in males compared to females, and symptoms at the lateral three tips of the fingers and whole hand were common in females compared to males. Furthermore, the symptoms in whole three lateral fingers were higher in patients with more than 50 years of age and at the level of wrist region were higher in patients with age less than 50 years. (author)

  1. [Serial clinical and echocardiographic evaluation in children with Marfan syndrome]. (United States)

    Lopez, Victor Manuel Oporto; Perez, Ana Beatriz Alvarez; Moisés, Valdir Ambrósio; Gomes, Lourdes; Pedreira, Patricia da Silveira; Silva, Célia C; Campos Filho, Orlando; Carvalho, Antônio Carlos C


    To describe the clinical cardiac manifestations and temporal evolution of Marfan syndrome in children; to estimate the incidence of annuloaortic ectasia and mitral valve prolapse; and to evaluate tolerability and efficacy of beta-blockers in these patients. During one year, 21 children with Marfan syndrome underwent serial clinical and echocardiographic examinations. Echocardiograms assessed: the presence of mitral valve prolapse, aortic root diameter, mitral and aortic valves regurgitation, and aortic enlargement during beta-blocker therapy. Eleven patients had two measurements of the aortic root taken one year apart. The children were asymptomatic throughout the study. Mitral prolapse was found in 11 (52%) children. Annuloaortic ectasia occurred in 16 (76%) patients and found to be mild in 42.8%, moderate in 9.5%, and severe in 23.8%. One of these patients underwent aortic valve replacement and repair of the ascending aorta by the Bentall-De Bono technique, with good results. Heart rate decreased by 13.6% (from 85 to 73 bpm; p < 0.009) with the use of beta-blockers; however, aortic root diameter increased by 1.4 mm/year (p < 0.02). One child could not be given beta-blockers due to bronchial asthma, and no significant side effects were observed in the remaining children, including one who also had bronchial asthma. The children remained asymptomatic throughout the study, the use of beta-blockers led to a significant decrease in heart rate, and no significant adverse effects were observed. Contrary to the literature, incidence of annuloaortic ectasia was high among the study population, greater than that of mitral valve prolapse, even during beta-blocker therapy.

  2. Evans syndrome and systemic lupus erythematosus: clinical presentation and outcome. (United States)

    Costallat, Guilherme Lavras; Appenzeller, Simone; Costallat, Lilian Tereza Lavras


    To review the clinical, laboratory and outcome features of Evans syndrome (ES) in systemic lupus erythematosus (SLE) patients. We reviewed the charts of 953 SLE patients followed up regularly at our service. ES was defined as the presence of hemolytic anemia and thrombocytopenia concomitantly or sequentially. Clinical and laboratory manifestations occurring during the disease course, as well as concomitant diseases and survival was carefully reviewed. We identified ES in 26 of 953 (2.7%) SLE patients. Twenty-three were women with mean age at SLE diagnosis of 25.7 years. Four (15%) patients had disease onset before the age of 16. In the majority of patients (92%), immune thrombocytopenia and AIHA appeared simultaneously at the beginning of SLE. Active features of SLE were a frequent finding concomitant to ES, especially arthritis (77%), malar rash (61.5%), photosensitivity (57.6%), oral ulcers (34.6%), nephritis (73%), serositis (54%), neuropsychiatric (19%) and pulmonary (15%) manifestations. In addition to this multisystemic disease, 34.6% of our patients had an association with another autoimmune disease such as antiphospholipid syndrome. Recurrence of ES was observed in only four (15%) patients. After follow-up time of 8.72 years, 19 patients (73%) were in remission and seven (27%) patients died. ES is a rare manifestation in SLE, occurring in patients with severe multisystemic SLE manifestations. Treatment strategies frequently used in SLE contribute to longer disease remission and less frequent exacerbation than observed in the general population with ES. Copyright © 2011 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  3. Solitary rectal ulcer syndrome: clinical findings, surgical treatment, and outcomes. (United States)

    Torres, Carlos; Khaikin, Marat; Bracho, Jorge; Luo, Cheng Hua; Weiss, Eric G; Sands, Dana R; Cera, Susan; Nogueras, Juan J; Wexner, Steven D


    Solitary rectal ulcer syndrome (SRUS) is a rare disorder often misdiagnosed as a malignant ulcer. Histopathological features of SRUS are characteristic and pathognomonic; nevertheless, the endoscopic and clinical presentations may be confusing. The aim of the present study was to assess the clinical findings, surgical treatment, and outcomes in patients who suffer from SRUS. A retrospective chart review was undertaken, from January 1989 to May 2005 for all patients who were diagnosed with SRUS. Data recorded included: patient's age, gender, clinical presentation, past surgical history, diagnostic and preoperative workup, operative procedure, complications, and outcomes. During the study period, 23 patients were diagnosed with SRUS. Seven patients received only medical treatment, and in three patients, the ulcer healed after medical treatment. Sixteen patients underwent surgical treatment. In four patients, the symptoms persisted after surgery. Two patients presented with postoperative rectal bleeding requiring surgical intervention. Three patients developed late postoperative sexual dysfunction. One patient continued suffering from rectal pain after a colostomy was constructed. Median follow-up was 14 (range 2-84) months. The results of this study show clearly that every patient with SRUS must be assessed individually. Initial treatment should include conservative measures. In patients with refractory symptoms, surgical treatment should be considered. Results of anterior resection and protocolectomy are satisfactory for solitary rectal ulcer.

  4. Progress in Rett Syndrome: from discovery to clinical trials. (United States)

    Percy, Alan K


    Fifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. This disorder became known as Rett syndrome (RTT) following the report of Hagberg et al. in 1983. Although RTT was scarcely recognized at that time in the United States, here the efforts of Rett and Hagberg led to rapid progress in recognition and diagnosis, a clearer understanding of its clinical and pathological underpinnings, and, ultimately, identification of mutations in the methyl-CpG-binding protein 2 (MECP2) gene as the primary cause of this unique and challenging neurodevelopmental disorder. Thereafter, a natural history study and critical translational research in animal models paved the way for potential disease-modifying agents to be assessed in human clinical trials. To be successful, the energies of the international community at all levels, including researchers in clinical and basic science, funding agencies, pharmaceutical companies, patient advocates, and, above all, parents and their children are essential. Otherwise, hopes for effective treatment, if not, a cure, will remain unfulfilled.

  5. Treatment of equine metabolic syndrome: A clinical case series. (United States)

    Morgan, R A; Keen, J A; McGowan, C M


    Treatment of equine metabolic syndrome (EMS) is essential to improve insulin sensitivity and reduce the risk of laminitis. Calorie restriction and increased exercise are the mainstays of treatment but there is potential for poor owner compliance. To determine whether significant weight loss accompanied by improvements in measures of insulin sensitivity can be achieved in horses and ponies with EMS managed by their owners in their normal environment under veterinary guidance. Retrospective clinical case series. Horses and ponies attending 2 university hospitals for investigation and treatment of suspected EMS were eligible for inclusion in the study. Animals underwent a clinical examination, basal and dynamic endocrine testing; those with pituitary pars intermedia dysfunction (PPID) were excluded. Owners were given individually tailored diet and exercise programmes to follow for between 3 and 6 months. After the treatment period, clinical examination and endocrine tests were repeated and results compared to the initial assessment. Nineteen animals were recruited to the study, 17 with a history of laminitis. All animals showed a reduction in body condition score (Passessments. There were significant (P<0.05) reductions in basal insulin, insulin at 45 min during a combined glucose insulin tolerance test (CGIT), time for blood glucose concentration to return to baseline during a CGIT and mean area under the glucose curve. A diet and exercise programme tailored to the needs of the individual animal and implemented by the owner results in weight loss accompanied by improvements in insulin sensitivity. © 2015 EVJ Ltd.

  6. Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management. (United States)

    Voutetakis, Antonis; Sertedaki, Amalia; Dacou-Voutetakis, Catherine


    Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset. In this review, recent advances with respect to the cause of PSIS, clinical characteristics leading to earlier diagnosis, and management are outlined. Diagnosis of PSIS is often delayed probably because clinical findings such as neonatal hypoglycemia, cholestasis, and/or micropenis as well as decreasing growth velocity are not appropriately and timely validated. Recently, molecular defects in various genes have been associated with PSIS albeit in a small number of cases. These findings suggest that PSIS belongs to the spectrum of holoprosencephaly-related defects. Phenotype-genotype discordance and the existence of asymptomatic carriers of a given molecular aberration indicate that penetrance may be modified favorably or unfavorably by the presence of other genetic and/or environmental factors. PSIS constitutes an antenatal anatomical defect. Neonatal hypoglycemia, cholestasis, and/or micropenis with or without growth deficit should raise the possibility of combined pituitary hormone deficiency, a life-threatening condition in cases of coexisting cortisol deficiency. It is important to search for molecular defects in all PSIS cases, as precise identification of the cause is a prerequisite for genetic counseling.

  7. Angelman syndrome: review of clinical and molecular aspects

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    Bird LM


    Full Text Available Lynne M Bird1Department of Pediatrics, University of California, Division of Genetics, Rady Children’s Hospital, San Diego, California, USAAbstract: “Angelman syndrome” (AS is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The behavioral features of AS include a happy demeanor, easily provoked laughter, short attention span, hypermotoric behavior, mouthing of objects, sleep disturbance, and an affinity for water. Microcephaly and subtle dysmorphic features, as well as ataxia and other movement disturbances, are additional features seen in most affected individuals. AS is due to deficient expression of the ubiquitin protein ligase E3A (UBE3A gene, which displays paternal imprinting. There are four molecular classes of AS, and some genotype–phenotype correlations have emerged. Much remains to be understood regarding how insufficiency of E6-AP, the protein product of UBE3A, results in the observed neurodevelopmental deficits. Studies of mouse models of AS have implicated UBE3A in experience-dependent synaptic remodeling.Keywords: Angelman syndrome, chromosome 15q11-13, UBE3A, imprinting

  8. Typology of Internet gaming disorder and its clinical implications. (United States)

    Lee, Seung-Yup; Lee, Hae Kook; Choo, Hyekyung


    Various perspectives exist regarding Internet gaming disorder. While the concept of behavioral addiction is gaining recognition, some view the phenomenon as merely excessive indulgence in online pastimes. Still, in recent years, complaints from patients or their family members about problems related to Internet use, particularly Internet gaming, have become more common. However, the clinical picture of Internet gaming disorder could be obscured by its heterogeneous manifestations with other intertwined factors, such as psychiatric comorbidities, neurodevelopmental factors, sociocultural factors, and game-related factors, which may influence the pathogenesis as well as the clinical course. To mitigate such problems, clinicians should be able to consider diverse aspects related to Internet gaming disorder. Classifying such a heterogeneous problem into subtypes that share a similar etiology or phenomenology may provide additional clues in the diagnostic process and allow us to designate available clinical resources for particularly vulnerable factors. In this review paper, we suggest a typology of 'impulsive/aggressive,' 'emotionally vulnerable,' 'socially conditioned,' and 'not otherwise specified' as subtypes of the heterogeneous phenomena of pathological Internet gaming. The implications of these subtypes for assessment and treatment planning will also be highlighted. © 2016 The Authors. Psychiatry and Clinical Neurosciences © 2016 Japanese Society of Psychiatry and Neurology.

  9. An unusual clinical presentation resembling superior vena cava syndrome post heart surgery

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    Pellegrini Ronald


    Full Text Available Abstract Background An unusual sequence of post operative events heralded by hemodynamic deterioration followed by dyspnea and rapidly progressive dilatation of superficial neck and facial veins, resembling a superior vena cava syndrome, two days post surgical resection of filamentous aortic valve masses, closure of a patent foramen ovale, and performance of a modified Maze procedure for atrial fibrillation in a patient that presented with transient neurologic findings is presented. Case Presentation Although both clinical findings and hemodynamic derangements completely resolved following tricuspid valve repair aimed to correct the new onset severe tricuspid regurgitation noted post operatively; a clear mechanism was not readily obvious and diagnostic testing data somewhat conflictive. We present a careful retrospective examination of all clinical data and review possible clinical entities that could have been implicated in this particular case and recognize that transesophageal echocardiographic findings were most useful in identifying the best course of action. Conclusion After reviewing all clinical data and despite the inconclusive nature of test results; the retrospective examination of transesophageal echocardiographic findings proved to be most useful in identifying the best course of action. We postulate that in our case, resolution of the suspected pulmonary embolism with anticoagulation and reestablishment of a normal right ventricular geometry with tricuspid valve repair worked in unison in restoring normal hemodynamics and resolving both dyspnea and venous dilatation.

  10. Clinical spectrum of pseudoexfoliation syndrome-An electronic records audit.

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    Aparna Rao

    Full Text Available To evaluate different clinical variants of pseudoexfoliation syndrome and their risk of developing ocular hypertension (OHT or glaucoma (PXG.Cross sectional hospital based study.All patients seen at glaucoma services of a tertiary eye care center in east India.Electronic medical records search of hospital database including consecutive new and old cases seen during April 2013 to March 2015 was done to retrieve case sensitive words including pseudoexfoliation, PXF, PEX, PXG and pseudoexfoliative glaucoma over any part of the clinical electronic sheet of the patient. All demographic and clinical details including laterality, the pattern of deposits, need for medicines and disc damage at presentation was compared in eyes with radial pigmentary, classical or combined forms of PXF phenotypes.Of 110313 PXF patients seen during the period of 2013-2015, a total of 2297 eyes of 1150 PXF patients were identified including 525 unilateral PXF (meaning a total of 1775 PXF eyes with 625 patients having bilateral disease, n = 1250 eyes, other clinically normal eye, n = 522 at presentation. Of 525 unilateral PXF eyes, 105 had OHT and 131 had glaucoma while bilateral cases had more >50% (675 eyes of 1250 eyes with glaucoma. Glaucoma with significant changes in IOP with or without disc damage was seen in 32% of pigmentary and 39% of classical PXF forms with eyes with combined forms of PXF having around 50% with glaucoma at presentation compared to other forms, p<0.001.Different phenotypic variants of PXF in this Indian cohort was associated with 30-50% risk of OHT or glaucoma respectively. Adequate care is required while examining the pattern of PXF in each case to prognosticate each patient/eye.

  11. Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders. (United States)

    Downs, Jenny; Leonard, Helen; Jacoby, Peter; Brisco, Lauren; Baikie, Gordon; Hill, Kylie


    Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome. Twenty-six participants (mean 18 years, SD 8) wore an Actigraph, ActivPAL and StepWatch Activity Monitor (SAM) during a video-taped session of activities. Agreement was determined between step-counts derived from each accelerometer and observation. Repeatability of SAM-derived step counts was determined using pairs of one-minute epochs during which the same participant was observed to walk with the same cadence. The mean difference (limit of agreement) for the Actigraph, ActivPAL and SAM were -41 (SD 33), -16 (SD 21) and -1 (SD 16) steps/min, respectively. Agreement was influenced by a device/cadence interaction (p Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials. Implications for Rehabilitation Many girls and women with Rett syndrome are able to walk on their own or with assistance but with altered movement patterns. Validated measures of physical activity, such as step counts, have potential to monitor function during daily life. Compared with other forms of accelerometer-type devices, such as ActiGraph and ActivPAL, the StepWatch Activity Monitor (SAM) measured step counts with good accuracy and repeatability. The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials.

  12. More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated (United States)

    Corsten-Janssen, N.; Saitta, S.C.; Hoefsloot, L.H.; McDonald-McGinn, D.M.; Driscoll, D.A.; Derks, R.; Dickinson, K.A.; Kerstjens-Frederikse, W.S.; Emanuel, B.S.; Zackai, E.H.; van Ravenswaaij-Arts, C.M.A.


    CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear abnormalities) and 22q11.2 deletion syndromes are variable, congenital malformation syndromes that show considerable phenotypic overlap. We further explored this clinical overlap and proposed recommendations for the genetic diagnosis of both syndromes. We described 2 patients clinically diagnosed with CHARGE syndrome, who were found to carry a 22q11.2 deletion, and searched the literature for more cases. In addition, we screened our cohort of CHD7 mutation carriers (n = 802) for typical 22q11.2 deletion features and studied CHD7 in 20 patients with phenotypically 22q11.2 deletion syndrome but without haploinsufficiency of TBX1. In total, we identified 5 patients with a clinical diagnosis of CHARGE syndrome and a proven 22q11.2 deletion. Typical 22q11.2 deletion features were found in 30 patients (30/802, 3.7%) of our CHD7 mutation-positive cohort. We found truncating CHD7 mutations in 5/20 patients with phenotypically 22q11.2 deletion syndrome. Differentiating between CHARGE and 22q11.2 deletion syndromes can be challenging. CHD7 and TBX1 probably share a molecular pathway or have common target genes in affected organs. We strongly recommend performing CHD7 analysis in patients with a 22q11.2 deletion phenotype without TBX1 haploinsufficiency and conversely, performing a genome-wide array in CHARGE syndrome patients without a CHD7 mutation. PMID:23885230


    Directory of Open Access Journals (Sweden)

    Ibanez-Valdes LdeF


    Full Text Available We studied 19 patients fulfilling clinical diagnostic criteria of One-and-a-half syndrome (OAHS and all of them were grouped in three different types according to their neuro-ophthalmological disturbances. A novel clinical classification is suggested. Patients presenting OAHS secondary to racemose neurocysticercosis were reported for the first time to the medical literature. RESUMEN: Sindrome del Uno y Medio. Clasificación clínica. Se estudiaron 19 pacientes que presentaron clinicamente un "Síndrome del Uno y Medio" en diferentes variantes y de causas diversas. Se agruparon los pacientes en 3 grupos diferentes de acuerdo a sus características neuro-oftalmológicas evitando añadir nuevos eponimos a la ya existente lista de trastornos de la motilidad ocular. Proponemos una clasificacion clínica no reportada con anterioridad y se reporta como causa novedosa la forma racemosa de la neurocisticercosis para una de las variantes clínicas.

  14. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management (United States)

    Guo, Shiyi; Huang, Jinsha; Jiang, Haiyang; Han, Chao; Li, Jie; Xu, Xiaoyun; Zhang, Guoxin; Lin, Zhicheng; Xiong, Nian; Wang, Tao


    Restless legs syndrome (RLS), a common neurological sensorimotor disorder in western countries, has gained more and more attention in Asian countries. The prevalence of RLS is higher in older people and females. RLS is most commonly related to iron deficiency, pregnancy and uremia. The RLS symptoms show a significant circadian rhythm and a close relationship to periodic limb movements (PLMs) in clinical observations, while the pathophysiological pathways are still unknown. The diagnostic criteria have been revised in 2012 to improve the validity of RLS diagnosis. Recent studies have suggested an important role of iron decrease of brain in RLS pathophysiology. Dopaminergic (DA) system dysfunction in A11 cell groups has been recognized long ago from clinical treatment and autopsy. Nowadays, it is believed that iron dysfunction can affect DA system from different pathways and opioids have a protective effect on DA system. Several susceptible single nucleotide polymorphisms such as BTBD9 and MEIS1, which are thought to be involved in embryonic neuronal development, have been reported to be associated with RLS. Several pharmacological and non-pharmacological treatment are discussed in this review. First-line treatments of RLS include DA agents and α2δ agonists. Augmentation is very common in long-term treatment of RLS which makes prevention and management of augmentation very important for RLS patients. A combination of different types of medication is effective in preventing and treating augmentation. The knowledge on RLS is still limited, the pathophysiology and better management of RLS remain to be discovered. PMID:28626420

  15. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management

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    Shiyi Guo


    Full Text Available Restless legs syndrome (RLS, a common neurological sensorimotor disorder in western countries, has gained more and more attention in Asian countries. The prevalence of RLS is higher in older people and females. RLS is most commonly related to iron deficiency, pregnancy and uremia. The RLS symptoms show a significant circadian rhythm and a close relationship to periodic limb movements (PLMs in clinical observations, while the pathophysiological pathways are still unknown. The diagnostic criteria have been revised in 2012 to improve the validity of RLS diagnosis. Recent studies have suggested an important role of iron decrease of brain in RLS pathophysiology. Dopaminergic (DA system dysfunction in A11 cell groups has been recognized long ago from clinical treatment and autopsy. Nowadays, it is believed that iron dysfunction can affect DA system from different pathways and opioids have a protective effect on DA system. Several susceptible single nucleotide polymorphisms such as BTBD9 and MEIS1, which are thought to be involved in embryonic neuronal development, have been reported to be associated with RLS. Several pharmacological and non-pharmacological treatment are discussed in this review. First-line treatments of RLS include DA agents and α2δ agonists. Augmentation is very common in long-term treatment of RLS which makes prevention and management of augmentation very important for RLS patients. A combination of different types of medication is effective in preventing and treating augmentation. The knowledge on RLS is still limited, the pathophysiology and better management of RLS remain to be discovered.

  16. Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. (United States)

    Gamba, B F; Vieira, G H; Souza, D H; Monteiro, F F; Lorenzini, J J; Carvalho, D R; Morreti-Ferreira, D


    Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% of cases), or by point mutation in the RAI1 gene (10% of cases). Laboratory diagnosis is through cytogenetic analysis by GTG banding and molecular cytogenetic analysis by FISH. We carried out an active search for patients in Associations of Parents and Friends of Exceptional Children (APAE) of São Paulo and genetic centers in Brazil. Forty-eight patients were screened for mental retardation, craniofacial abnormalities and stereotyped behavior with a diagnosis of SMS. In seven of them, chromosome banding at high resolution demonstrated chromosome 17p11.2 deletions, confirmed by FISH. We also made a meta-analysis of 165 cases reported between 1982 and 2010 to compare with the clinical data of our sample. We demonstrated differences between the frequencies of clinical signs among the cases reported and seven Brazilian cases of this study, such as dental anomalies, strabismus, ear infections, deep hoarse voice, hearing loss, and cardiac defects. Although the gold standard for diagnosis of SMS is FISH, we found that the GTG banding technique developed to evaluate chromosome 17 can be used for the SMS diagnosis in areas where the FISH technique is not available.

  17. Clinical and MR findings of tethered cord syndrome

    International Nuclear Information System (INIS)

    Chung, Ho In; Kim, Hyae Young; Chung, Eun Chul; Suh, Jeong Soo; Lim, Hyo Keun; Lee, Seoung Ro; Lee, Young Seok


    Tethered cord syndrome(TCS)is defined as low position of the conus medullaris by the abnormally fixed spinal cord with progressive neurologic deficit. To evaluate the findings of TCS at MRI and its diagnostic value, we performed a retrospective analysis of MRI of 30 patients with emphasis on clinical manifestation, level of conus medullaris, cause of tethering, and associated findings. Clinical presentation included back mass(26 cases), neurogenic bladder(5 cases), urinary incontinences(5 cases), progressive constipation(2 cases), skin dimpling(1 case), gait disturbance(1 case) and club foot (1 case). Neurologic deficit was developed 11 cases(40%) and mean age of these patients at the time of diagnosis was 8.6 years. The most common cause of tethering was lipoma(63%). The tips of conus medullaris were below the level of the second lumbar spine ia all patients. The causes of tethering were lipomatous components(spinal lipoma and lipomyelomenigocele) in 67% myelomeningocele in 20%, presacral mass in 7%, thickened filum terminale in 3% and postoperative change in 3%. Associated anomalies included syringomyelia(20%) and hydrocephalus was associated in 3 out 5 patients who underwent brain MRI. MRI clearly delineated the location of conus, tethering of the filum terminate with their causes and associated abnormalities. MRI examination is a very useful diagnostic tool for the early evaluation of TCS and the postoperative follow up

  18. Clinical Implications of Hedgehog Pathway Signaling in Prostate Cancer

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    Daniel L. Suzman


    Full Text Available Activity in the Hedgehog pathway, which regulates GLI-mediated transcription, is important in organogenesis and stem cell regulation in self-renewing organs, but is pathologically elevated in many human malignancies. Mutations leading to constitutive activation of the pathway have been implicated in medulloblastoma and basal cell carcinoma, and inhibition of the pathway has demonstrated clinical responses leading to the approval of the Smoothened inhibitor, vismodegib, for the treatment of advanced basal cell carcinoma. Aberrant Hedgehog pathway signaling has also been noted in prostate cancer with evidence suggesting that it may render prostate epithelial cells tumorigenic, drive the epithelial-to-mesenchymal transition, and contribute towards the development of castration-resistance through autocrine and paracrine signaling within the tumor microenvironment and cross-talk with the androgen pathway. In addition, there are emerging clinical data suggesting that inhibition of the Hedgehog pathway may be effective in the treatment of recurrent and metastatic prostate cancer. Here we will review these data and highlight areas of active clinical research as they relate to Hedgehog pathway inhibition in prostate cancer.

  19. [Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome]. (United States)

    Laux, D; Bajolle, F; Maltret, A; Bonnet, D


    Costello syndrome is a rare association of symptoms caused by de novo germline mutations of the HRAS oncogene interfering in the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Mutations in this pathway are also responsible for Noonan syndrome and the related cardiofaciocutaneous syndrome (CFC) as well as LEOPARD syndrome. The 4 syndromes share phenotypic resemblances concerning patients' morphology but also regarding associated cardiac disease, namely hypertrophic cardiomyopathy, pulmonary stenosis, and atrial septal defect. The electrocardiogram often shows an upper deviation of the QRS axis. Arrhythmias are rare but, if present, are particularly typical of CS. We describe herein two newborn infants with Costello syndrome revealed by atrial tachycardia associated with characteristic morphological and cardiac features of syndromes related to mutations in the RAS/MAPK pathway. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  20. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

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    Néstor Pacenza


    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  1. α-Synuclein oligomers and clinical implications for Parkinson disease (United States)

    Kalia, Lorraine V.; Kalia, Suneil K.; McLean, Pamela J.; Lozano, Andres M.; Lang, Anthony E.


    Protein aggregation within the central nervous system has been recognized as a defining feature of neurodegenerative diseases since the early 20th century. Since that time, there has been a growing list of neurodegenerative disorders, including Parkinson disease, which are characterized by inclusions of specific pathogenic proteins. This has led to the long-held dogma that these characteristic protein inclusions, which are composed of large insoluble fibrillar protein aggregates and visible by light microscopy, are responsible for cell death in these diseases. However, the correlation between protein inclusion formation and cytotoxicity is inconsistent suggesting another form of the pathogenic proteins may be contributing to neurodegeneration. There is emerging evidence implicating soluble oligomers, smaller protein aggregates not detectable by conventional microscopy, as potential culprits in the pathogenesis of neurodegenerative diseases. The protein α-synuclein is well recognized to contribute to the pathogenesis of Parkinson disease and is the major component of Lewy bodies and Lewy neurites. However, α-synuclein also forms oligomeric species with certain conformations being toxic to cells. The mechanisms by which these α-synuclein oligomers cause cell death are being actively investigated as they may provide new strategies for diagnosis and treatment of Parkinson disease and related disorders. Here we review the possible role of α-synuclein oligomers in cell death in Parkinson disease and discuss the potential clinical implications. PMID:23225525


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    Rosa LS SOARES


    Full Text Available Context The irritable bowel syndrome and primary headache are two chronic diseases characterized by symptoms of recurring pain and affect approximately 10%-20% of the general population. Objectives To study the prevalence of primary headache in volunteers with irritable bowel syndrome in a Brazilian urban community. Methods It was evaluated the prevalence of primary headache associated with irritable bowel syndrome in adult volunteers 330 no patients.The protocol included the Rome III criteria, international classification of Headaches, later divided into four groups: I- Irritable bowel syndrome (n = 52, II- Primary headache (n = 45, III-Irritable bowel syndrome (n = 26 and headache, and IV- Controls (207. Results We not found significant difference in the average age of the four groups and the diagnosis of irritable bowel syndrome, primary headache and their association was more frequent in females. The frequent use of analgesics was greater in groups II and III. Conclusion Our results suggest that irritable bowel syndrome and primary headache are also common in third world countries. The frequency in use of analgesics in association between the two entities was relevant. The identification of irritable bowel syndrome patients with different clinical sub-types could improve the therapeutics options and the prevention strategies.

  3. Impulse control disorders in Parkinson's disease: clinical characteristics and implications. (United States)

    Leeman, Robert F; Potenza, Marc N


    Impulse control disorders (ICDs), specifically those related to excessive gambling, eating, sex and shopping, have been observed in a subset of people with Parkinson's disease (PD). Although some initial case reports claimed that dopamine replacement therapies, particularly dopamine agonists, cause ICDs, more recent, larger and better controlled studies indicate a more complicated picture. While dopamine replacement therapy use is related to ICDs, other vulnerabilities, some related to PD and/or its treatment directly and others seemingly unrelated to PD, have also been associated with ICDs in PD. This suggests a complex etiology with multiple contributing factors. As ICDs occur in a sizable minority of PD patients and can be associated with significant distress and impairment, further investigation is needed to identify factors that can predict who may be more likely to develop ICDs. Clinical implications are discussed and topics for future research are offered.

  4. Personality disorders as risk factors for eating disorders: clinical implications. (United States)

    Sansone, Randy A; Sansone, Lori A


    Personality disorders are oftentimes comorbid with eating disorders. According to a review of the literature, obsessive-compulsive personality disorder is the most common Axis II disorder in eating-disordered individuals with restrictive eating behavior, whereas borderline personality disorder is the most common Axis II disorder in those with impulsive eating pathology. Because personality disorders developmentally precede eating disorders and the characteristics of the personality disorder oftentimes mirror the style of eating pathology (eg, highly controlled personality styles and highly controlled eating patterns; impulsive personality styles and impulsive eating pathology), it is reasonable to assume that personality disorders influence subsequent eating pathology. Therefore, it is likely that personality disorders function, to some degree, as risk factors for the development of specific types of eating disorders. The authors discuss the clinical implications of these relationships.

  5. Diagnosis of antiphospholipid syndrome in routine clinical practice (United States)

    Hills, J; Machin, SJ; Cohen, H


    The updated international consensus criteria for definite antiphospholipid syndrome (APS) are useful for scientific clinical studies. However, there remains a need for diagnostic criteria for routine clinical use. We audited the results of routine antiphospholipid antibodies (aPLs) in a cohort of 193 consecutive patients with aPL positivity-based testing for lupus anticoagulant (LA), IgG and IgM anticardiolipin (aCL) and anti-ß2glycoprotein-1 antibodies (aß2GPI). Medium/high-titre aCL/aβ2GPI was defined as >99th percentile. Low-titre aCL/aβ2GPI positivity (>95th < 99th percentile) was considered positive for obstetric but not for thrombotic APS. One hundred of the 145 patients fulfilled both clinical and laboratory criteria for definite APS. Twenty-six women with purely obstetric APS had persistent low-titre aCL and/or aβ2GPI. With the inclusion of these patients, 126 of the 145 patients were considered to have APS. Sixty-seven out of 126 patients were LA-negative, of whom 12 had aCL only, 37 had aβ2GPI only and 18 positive were for both. The omission of aCL or aβ2GPI testing from investigation of APS would have led to a failure to diagnose APS in 9.5% and 29.4% of patients, respectively. Our data suggest that LA, aCL and aβ2GPI testing are all required for the accurate diagnosis of APS and that low-titre antibodies should be included in the diagnosis of obstetric APS. PMID:22988029

  6. A clinical approach to complex regional pain syndrome. (United States)

    Harden, R N


    The clinical approach to complex regional pain syndrome (CRPS) is complicated by a lack of precision diagnostically, and a lack of evidence-based information for treatment. The vagaries of diagnosis were somewhat improved by the Orlando Conference (1993), where a consensus panel of experts developed a new taxonomy and criteria. Unfortunately the criteria can be based entirely on subjective grounds (patient history), and as such provides a very sensitive but not very specific device. There is some effort in the research community to amend these criteria to make them more specific. We encourage the practicing physician to include as much objective data along with the quasi-objective and subjective information currently used in formulating the diagnosis. This imprecision in diagnostic issues has significantly hampered treatment because it has not led to solid, generalizable, randomized controlled trials. To date there are no substantial scientific trials of any particular therapy or medication in the specific diagnosis of CRPS. Much can be inferred from the work with peripheral neuropathy and central pain. However, it is unlikely that this will be a perfect concordance with best therapy for CRPS. It remains our responsibility to diagnose each patient as best we can, supported by the best possible objective signs and testing. Once the diagnosis is made it is necessary to proceed in a pragmatic empirical way, following the best guidelines available. The guidelines should be considered a "rough sketch" and the key to clinical success will be flexibility, a vast fund of the available knowledge, patience, and compassion. To allow the deficiencies in the science to paralyze the clinical process is therapeutic nihilism, and not acceptable.

  7. Clinical profile of PiB-positive corticobasal syndrome. (United States)

    Burrell, James R; Hornberger, Michael; Villemagne, Victor L; Rowe, Christopher C; Hodges, John R


    Corticobasal syndrome (CBS) is a multifaceted neurodegenerative disorder characterized by a combination of motor and cognitive deficits. Several different pathological entities, including Alzheimer's pathology, have been described in association with CBS. The present study aimed to establish clinical, neuropsychological, and neuroimaging features that could be useful in the distinction of CBS due to AD pathology from other CBS cases in life based on [(11)C] Pittsburgh Compound B positron emission tomography (PiB-PET) status. Patients with CBS were prospectively recruited from a specialized cognitive disorders clinic. All patients underwent detailed clinical and neuropsychological assessment, with structural imaging using voxel-based analysis of magnetic resonance imaging. Alzheimer's pathology was detected using PiB-PET imaging, and PiB-positive and PiB-negative groups were compared. Fourteen CBS patients meeting defined criteria were included (7 male, 7 female; mean age 66.1+/-6.9 years; median symptom duration was 35.5+/-22.6 months) and compared to 20 matched control subjects. Of the 14 patients, 4 were PiB-positive and 10 PiB-negative. There were no significant differences between PiB-positive and PiB-negative CBS patients in age, gender, education, symptom duration, or motor features. PiB-positive patients had greater visuospatial deficits, a higher rate of sentence repetition impairment, and more functional decline. Voxel-based morphometry analyses demonstrated extensive peri-insular and post-central atrophy in both groups, but PiB-positive patients had atrophy that extended to include the posterior part of the left superior temporal gyrus. Visuospatial function, aspects of language, and the pattern of cerebral atrophy may be useful in distinguishing patients with CBS due to underlying AD pathology.

  8. Clinical features and differential diagnosis of flail arm syndrome. (United States)

    Hübers, Annemarie; Hildebrandt, Viviane; Petri, Susanne; Kollewe, Katja; Hermann, Andreas; Storch, Alexander; Hanisch, Frank; Zierz, Stephan; Rosenbohm, Angela; Ludolph, Albert C; Dorst, Johannes


    Flail arm syndrome (FAS) is a variant of motor neuron disease which is characterized by progressive, predominantly proximal weakness and atrophy of the upper limbs (UL). Because of its heterogeneous presentation and its relatively slow progression, differential diagnosis may be difficult particularly in the early stages of the disease. The aim of this study was to investigate typical clinical features of FAS with special regard to initial symptoms and differences to classical Charcot type amyotrophic lateral sclerosis (ALS). We retrospectively evaluated the clinical features of 42 FAS patients who were seen in the outpatient clinics of 4 German centers between 2000 and 2010 and compared them to 146 sex-matched control patients with classical spinal-onset ALS. FAS patients were younger (54.7 ± 9.3 versus 59.4 ± 12.2 years), male patients were predominantly affected (3.8:1 versus 1.9:1), and FAS patients showed a prolonged survival (53 versus 33 months) compared to classical ALS patients. The share of patients with initial misdiagnoses was 54.8% and led to ineffective therapy with immunoglobulins in 26%. Initial symptoms were most frequently present either in distal muscles only or in both proximal and distal muscle groups combined (76%) and showed an asymmetric distribution pattern in the majority of cases (76%). Although all patients developed symmetric and predominantly proximal UL weakness and atrophy during the course of their disease, we found that most patients initially showed asymmetric and predominantly distal distribution of symptoms. This may contribute to difficulties in differential diagnosis and to ineffective treatment regimes.

  9. Irritable bowel syndrome: diagnostic approaches in clinical practice

    Directory of Open Access Journals (Sweden)

    Eugene J Burbige


    Full Text Available Eugene J BurbigeDivision of Gastroenterology, Gastrointestinal and Liver Research, John Muir Medical Center, Concord, CA, USABackground: Irritable bowel syndrome (IBS, a functional gastrointestinal disorder long considered a diagnosis of exclusion, has chronic symptoms that vary over time and overlap with those of non-IBS disorders. Traditional symptom-based criteria effectively identify IBS patients but are not easily applied in clinical practice, leaving >40% of patients to experience symptoms up to 5 years before diagnosis.Objective: To review the diagnostic evaluation of patients with suspected IBS, strengths and weaknesses of current methodologies, and newer diagnostic tools that can augment current symptom-based criteria.Methods: The peer-reviewed literature (PubMed was searched for primary reports and reviews using the limiters of date (1999–2009 and English language and the search terms irritable bowel syndrome, diagnosis, gastrointestinal disease, symptom-based criteria, outcome, serology, and fecal markers. Abstracts from Digestive Disease Week 2008–2009 and reference lists of identified articles were reviewed.Results: A disconnect is apparent between practice guidelines and clinical practice. The American Gastroenterological Association and American College of Gastroenterology recommend diagnosing IBS in patients without alarm features of organic disease using symptom-based criteria (eg, Rome. However, physicians report confidence in a symptom-based diagnosis without further testing only up to 42% of the time; many order laboratory tests and perform sigmoidoscopies or colonoscopies despite good evidence showing no utility for this work-up in uncomplicated cases. In the absence of diagnostic criteria easily usable in a busy practice, newer diagnostic methods, such as stool-form examination, fecal inflammatory markers, and serum biomarkers, have been proposed as adjunctive tools to aid in an IBS diagnosis by increasing physicians

  10. A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management. (United States)

    Ome, Maria; Wangnapi, Regina; Hamura, Nancy; Umbers, Alexandra J; Siba, Peter; Laman, Moses; Bolnga, John; Rogerson, Sheryle; Unger, Holger W


    Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21(+5) weeks' gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks' gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women's attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a fetus with severe congenital abnormalities may

  11. A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea – implications for management (United States)


    Background Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. Case presentation A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21+5 weeks’ gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks’ gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. Conclusion This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women’s attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a

  12. CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

    NARCIS (Netherlands)

    Jongmans, M. C. J.; van Ravenswaaij-Arts, C. M. A.; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H. L.; van der Donk, K.; Seminara, S.; Bergman, J. E. H.; Brunner, H. G.; Crowley, W. F.; Hoefsloot, L. H.

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with

  13. [Clinical study of area of Jiangsu province of polycystic ovarian syndrome correlation distribution of traditional Chinese medicine syndrome type and improper diet]. (United States)

    Feng, Yu; Gao, Yue-Ping


    Polycystic ovary syndrome (PCOS) is one of the most popular diseases in obstetrics and gynecology research at internal and abroad at present, traditional Chinese medicine(TCM)in the clinical treatment of the disease have the advantage. Clinical epidemiological study of descriptive research method this research adopts investigation, observation of TCM syndromes and improper diet through 401 cases in Jiangsu Province confirmed PCOS patients, to explore the relationship between TCM syndrome type distribution and improper diet factors, and to provide the clinical basis for further etiology of this disease research. TCM syndrome type distribution of the disease is kidney deficiency, phlegm stagnation syndrome, qi stagnation and blood stasis syndrome, syndrome of dampness heat of liver channel and is composed of 4 basic syndromes and formed complex syndrome, and the composite and syndrome type (60.85%); combined with the analysis of traditional Chinese medicine dialectical, Pure empirical syndrome this disease (46.88%), followed by the actual card (45.39%), pure deficiency is rare. Improper diet factors associated with the disease, in which improper diet with different TCM syndrome type distribution significantly related. Stagnation of phlegm dampness syndrome is the main syndrome of the disease type, improper diet factors and every syndrome PCOS type distribution is as follows: the partial eclipse fatness greasy with basic syndromes of phlegm dampness stagnation of kidney deficiency syndrome, the nephrasthenia syndrome is less; eating spicy stimulation by basic syndromes of stagnation of Qi and blood stasis; eating cold people the basic certificate type of qi stagnation and blood stasis; The diet of patients are more prone to stagnation of phlegm dampness syndrome.

  14. Breast cancer stem cells: current advances and clinical implications. (United States)

    Luo, Ming; Clouthier, Shawn G; Deol, Yadwinder; Liu, Suling; Nagrath, Sunitha; Azizi, Ebrahim; Wicha, Max S


    There is substantial evidence that many cancers, including breast cancer, are driven by a population of cells that display stem cell properties. These cells, termed cancer stem cells (CSCs) or tumor initiating cells, not only drive tumor initiation and growth but also mediate tumor metastasis and therapeutic resistance. In this chapter, we summarize current advances in CSC research with a major focus on breast CSCs (BCSCs). We review the prevailing methods to isolate and characterize BCSCs and recent evidence documenting their cellular origins and phenotypic plasticity that enables them to transition between mesenchymal and epithelial-like states. We describe in vitro and clinical evidence that these cells mediate metastasis and treatment resistance in breast cancer, the development of novel strategies to isolate circulating tumor cells (CTCs) that contain CSCs and the use of patient-derived xenograft (PDX) models in preclinical breast cancer research. Lastly, we highlight several signaling pathways that regulate BCSC self-renewal and describe clinical implications of targeting these cells for breast cancer treatment. The development of strategies to effectively target BCSCs has the potential to significantly improve the outcomes for patients with breast cancer.

  15. Clinical implications of new mechanistic insights into atopic dermatitis. (United States)

    Leung, Donald Y M


    The review will examine recent advances in our understanding of atopic dermatitis and how these mechanisms provide a framework for new approaches to the management of this common skin disease. The mechanisms by which epithelial skin barrier and immune responses contribute to the complex clinical phenotypes found in atopic dermatitis are being elucidated. Atopic dermatitis often precedes food allergy because reduced skin barrier function allows environmental food allergens to penetrate the skin leading to systemic allergen sensitization. There is increasing evidence that atopic dermatitis is a systemic disease. New treatments are focused on intervention in polarized immune responses leading to allergic diseases. This includes antagonism of IL-4 and IL-13 effects. Prevention strategies involve maintaining normal skin barrier function with emollients to prevent allergens and microbes from penetrating the skin. Recent work on the pathogenesis of atopic dermatitis has important implications for its clinical management, including the development of effective barrier creams and biologicals targeting specific polarized immune pathways resulting in skin inflammation.

  16. Vicissitudes of bisexuality. Crucial points and clinical implications. (United States)

    Ferraro, F


    The author begins by noting that the heuristic value of the concept of bisexuality can be explored in two directions, involving respectively its role in psychopathology and in the development of creativity and thought. The author concentrates on the first of these aspects, which entails a reconsideration of the 'phallic question'. The status of femininity is investigated on the basis of Freud's and Winnicott's theories of bisexuality and the author here finds an explanation for the repudiation of femininity and for the 'phallic question' thereby implied, which represents the underlying bedrock resulting in interminable analyses. An important element in this rejection is stated to be the maternal aspect of femininity. Particular reference is made to the somatic roots of phallic defences and to their effects on thought and symbolisation. Some brief clinical examples are presented to suggest that the bedrock may be due to the distorted use of sensoriality and of the erotogenic zones. The author contends that the anal zone plays a crucial part in the manifestations of bisexuality and contrasts phallic logic with the logic of triangulation. Numerous literature references and clinical examples support and illustrate her arguments throughout. The author ends with a discussion of the implications of bisexuality for thought and knowledge.

  17. E-cadherin: Its dysregulation in carcinogenesis and clinical implications. (United States)

    Wong, Sonia How Ming; Fang, Chee Mun; Chuah, Lay-Hong; Leong, Chee Onn; Ngai, Siew Ching


    E-cadherin is a transmembrane glycoprotein which connects epithelial cells together at adherens junctions. In normal cells, E-cadherin exerts its tumour suppressing role mainly by sequestering β-catenin from its binding to LEF (Lymphoid enhancer factor)/TCF (T cell factor) which serves the function of transcribing genes of the proliferative Wnt signaling pathway. Despite the ongoing debate on whether the loss of E-cadherin is the cause or effect of epithelial-mesenchymal transition (EMT), E-cadherin functional loss has frequently been associated with poor prognosis and survival in patients of various cancers. The dysregulation of E-cadherin expression that leads to carcinogenesis happens mostly at the epigenetic level but there are cases of genetic alterations as well. E-cadherin expression has been linked to the cellular functions of invasiveness reduction, growth inhibition, apoptosis, cell cycle arrest and differentiation. Studies on various cancers have shown that these different cellular functions are also interdependent. Recent studies have reported a rapid expansion of E-cadherin clinical relevance in various cancers. This review article summarises the multifaceted effect E-cadherin expression has on cellular functions in the context of carcinogenesis as well as its clinical implications in diagnosis, prognosis and therapeutics. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Sheehan's syndrome presenting as psychosis: a rare clinical presentation (United States)

    Dar, Mohamand Maqbool; Arif, Tasleem; Bashir, Haamid; Bhat, Mohammad Hayat; Ahmed, Javid


    Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan's syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan's syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state. PMID:23483784

  19. A Network Approach to Hypersexuality: Insights and Clinical Implications. (United States)

    Werner, Marlene; Štulhofer, Aleksandar; Waldorp, Lourens; Jurin, Tanja


    calls for normalization of (presumably self-stigmatized) sexual expression through affirmative therapy and interventions that enhance self-care, self-compassion, and adaptive coping mechanisms. This is the first network analytic approach to hypersexuality. Apart from its novel insights about the structure of hypersexuality, the study employed several methods to assure reliability and robustness of findings. Considering that networks were estimated in a convenience-based community sample, the findings might not generalize to clinically distressed individuals. Our results demonstrate the usefulness of network analytics to hypersexuality in a non-clinical sample and we encourage future clinical and longitudinal explorations of hypersexuality using this novel approach. Werner M, Štulhofer A, Waldorp L, et al. A Network Approach to Hypersexuality: Insights and Clinical Implications. J Sex Med 2018;15:373-386. Copyright © 2018 International Society for Sexual Medicine. Published by Elsevier Inc. All rights reserved.

  20. Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases


    Kabra Madhulika; Jain Manish; Halder Ashutosh; Gupta Neerja


    Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase...

  1. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium


    Mai, Phuong L.; Malkin, David; Garber, Judy E.; Schiffman, Joshua D.; Weitzel, Jeffrey N.; Strong, Louise C.; Wyss, Oliver; Locke, Luana; Means, Von; Achatz, Maria Isabel; Hainaut, Pierre; Frebourg, Thierry; Evans, D. Gareth; Bleiker, Eveline; Patenaude, Andrea


    Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at ...

  2. Risk Factors and Clinical Follow-Up Features of Meconium Aspiration Syndrome


    Anuk İnce, Deniz; Takcı, Şahin; Altıntaş, Buket


    AbstractAim: Meconium aspiration syndrome is usually seen in full-term and post-term infants and may cause complications including respiratory failure, pulmonary air leaks, and persistent pulmonary hypertension. The aim of this study was to determine risk factors of meconium aspiration syndrome and assess the clinical course of the disease.Material and Methods: Fourteen of 508 infants diagnosed with meconium aspiration syndrome between January 2013 and April 2014 were retrospectively analyzed...

  3. [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. (United States)

    Kunze, J; Tolksdorf, M; Wiedemann, H R


    We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome. The prominent symptoms are: anal stenosis, preauricular tags and pits, coloboma of the iris, doubling of the pelvis and ureter on both sides, vesicourethral reflux on the right side and normal mental development. Leucocyte alkaline phosphatase is normal. Chromosomal analysis shows a supernumerary submetacentric chromosome. This extra chromosome is smaller than the G-group chromosomes and has satellites on the short and long arms. Autoradiography after 3H-thymidine incorporation shows a late-labeling marker chromosome. After using the Giemsa-banding technique, the chromatides demonstrate dark bandings with only soft, unstained satellites. With the fluorescence method, one can see spotlike fluorescence of the satellites on both arms and diffuse fluorescence of the hetero-chromatic segments. In addition, the C-bandings demonstrate a homogeneous dark staining of the chromatids, but we did not find stained satellites. Using the Giemsa-11 technique one can see the 47th chromosome with predominantly heterochromatic parts, but small euchromatic segments are visible between them. Satellites are unstained. Using currently accepted cytogenetical methods, it is not possible to identify the origin of this supernumerary marker chromosome.

  4. Neonatal staphylococcal scalded skin syndrome: clinical and outbreak containment review.

    LENUS (Irish Health Repository)

    Neylon, Orla


    Staphylococcal scalded skin syndrome (SSSS) is a toxin-mediated exfoliating skin condition predominated by desquamation and blistering. Neonatal outbreaks have already been reported; however, our outbreak highlights the potential for SSSS following neonatal health promotion measures such as intra-muscular vitamin K administration and metabolic screening (heel prick) as well as effective case containment measures and the value of staff screening. Between February and June 2007, five confirmed cases of neonatal SSSS were identified in full-term neonates born in an Irish regional maternity hospital. All infants were treated successfully. Analysis of contact and environmental screening was undertaken, including family members and healthcare workers. Molecular typing on isolates was carried out. An outbreak control team (OCT) was assembled and took successful prospective steps to prevent further cases. All five Staphylococcus aureus isolates tested positive for exfoliative toxin A, of which two distinct strains were identified on pulsed-field gel electrophoresis analysis. Two cases followed staphylococcal inoculation during preventive measures such as intra-muscular vitamin K administration and metabolic screening (heel prick). None of the neonatal isolates were methicillin resistant. Of 259 hospital staff (70% of staff) screened, 30% were colonised with S. aureus, and 6% were positive for MRSA carriage. This is the first reported outbreak of neonatal SSSS in Ireland. Effective case containment measures and clinical value of OCT is demonstrated. Results of staff screening underlines the need for vigilance and compliance in hand disinfection strategies in maternity hospitals especially during neonatal screening and preventive procedures.

  5. [Fibromyalgia syndrome. Definition, classification, clinical diagnosis and prognosis]. (United States)

    Eich, W; Häuser, W; Arnold, B; Jäckel, W; Offenbächer, M; Petzke, F; Schiltenwolf, M; Settan, M; Sommer, C; Tölle, T; Uçeyler, N; Henningsen, P


    The scheduled update to the German S3 guidelines on fibromyalgia syndrome (FMS) by the Association of the Scientific Medical Societies ("Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften", AWMF; registration number 041/004) was planned starting in March 2011. The development of the guidelines was coordinated by the German Interdisciplinary Association for Pain Therapy ("Deutsche Interdisziplinären Vereinigung für Schmerztherapie", DIVS), 9 scientific medical societies and 2 patient self-help organizations. Eight working groups with a total of 50 members were evenly balanced in terms of gender, medical field, potential conflicts of interest and hierarchical position in the medical and scientific fields. Literature searches were performed using the Medline, PsycInfo, Scopus and Cochrane Library databases (until December 2010). The grading of the strength of the evidence followed the scheme of the Oxford Centre for Evidence-Based Medicine. The formulation and grading of recommendations was accomplished using a multi-step, formal consensus process. The guidelines were reviewed by the boards of the participating scientific medical societies. The clinical diagnosis of FMS can be established by the American College of Rheumatology (ACR) 1990 classification criteria (with tender point examination), by the modified preliminary diagnostic ACR 2010 criteria or by the diagnostic criteria of the German interdisciplinary guideline (AWMF) on FMS. The English full-text version of this article is available at SpringerLink (under "Supplemental").

  6. Clinical correlates of insomnia in patients with acute coronary syndrome. (United States)

    Coryell, Virginia T; Ziegelstein, Roy C; Hirt, Kellie; Quain, Angela; Marine, Joseph E; Smith, Michael T


    This study sought to examine the prevalence of insomnia and its association with depression, anxiety, and medical comorbidities in patients after an acute coronary syndrome (ACS). Insomnia increases risk of recurrent cardiac events in ACS patients, but little is known about the prevalence and clinical correlates of insomnia in this setting. Patients (n = 102, 58.3 ± 10.6 years-old) admitted for ACS to a cardiology service at an urban academic medical center completed the Insomnia Severity Index, Epworth Sleepiness Scale, and measures of depression and anxiety. A subset (n = 20) completed ambulatory polysomnography (PSG) in their homes several weeks after discharge. Moderate or severe insomnia was reported by 37% of patients during hospitalization and was associated with 76 minutes more wake after sleep onset measured by home PSG. Although depression and insomnia were strongly associated, about 1 in 4 patients with insomnia did not report significant depressive symptoms. Sleep apnea was documented in 80% of patients on PSG, but insomnia was not associated with sleep apnea, periodic limb movements, demographic factors, or medical conditions other than liver disease. Insomnia is present in over one-third of ACS patients during hospitalization, but at-risk patients could not be readily identified by demographic or medical factors or by depression symptoms.

  7. Clinical disease characteristics according to karyotype in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Chae Young Yeo


    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  8. Predictors of disability worsening in clinically isolated syndrome (United States)

    Jokubaitis, Vilija G; Spelman, Tim; Kalincik, Tomas; Izquierdo, Guillermo; Grand'Maison, François; Duquette, Pierre; Girard, Marc; Lugaresi, Alessandra; Grammond, Pierre; Hupperts, Raymond; Cabrera-Gomez, José; Oreja-Guevara, Celia; Boz, Cavit; Giuliani, Giorgio; Fernández-Bolaños, Ricardo; Iuliano, Gerardo; Lechner-Scott, Jeannette; Verheul, Freek; van Pesch, Vincent; Petkovska-Boskova, Tatjana; Fiol, Marcela; Moore, Fraser; Cristiano, Edgardo; Alroughani, Raed; Bergamaschi, Roberto; Barnett, Michael; Slee, Mark; Vella, Norbert; Herbert, Joseph; Shaw, Cameron; Saladino, Maria Laura; Amato, Maria Pia; Liew, Danny; Paolicelli, Damiano; Butzkueven, Helmut; Trojano, Maria


    Objective To assess demographic, clinical, magnetic resonance imaging, and treatment exposure predictors of time to 3 or 12-month confirmed disability worsening in clinically isolated syndrome (CIS) and early multiple sclerosis (MS). Methods We utilized the MSBase Incident Study (MSBasis), a prospective cohort study of outcome after CIS. Predictors of time to first 3 and 12-month confirmed expanded disability status scale worsening were analyzed using Cox proportional hazards regression. Results About 1989 patients were analyzed, the largest seen-from-onset cohort reported to-date. A total of 391 patients had a first 3-month confirmed disability worsening event, of which 307 were sustained for 12 months. Older age at CIS onset (adjusted hazard ratio: aHR 1.17, 95% 1.06, 1.30), pyramidal (aHR 1.45, 95% CI 1.13, 1.89) and ambulation (HR 1.60, 95% CI 1.09, 2.34) system dysfunction, annualized relapse rate (aHR 1.20, 95% CI 1.18, 1.22), and lower proportion of observation time on treatment were associated with 3-month confirmed worsening. Predictors of time to 12-month sustained worsening included pyramidal system dysfunction (Hazard ratio: aHR 1.38, 95% CI 1.05, 1.83), and older age at CIS onset (aHR 1.17, 95% CI 1.04, 1.31). Greater proportion of follow-up time exposed to treatment was associated with greater reductions in the rate of worsening. Interpretation This study provides class IV evidence for a strong protective effect of disease-modifying treatment to reduce disability worsening events in patients with CIS and early MS, and confirms age and pyramidal dysfunction at onset as risk factors. PMID:26000321

  9. Moebius syndrome: clinical features, diagnosis, management and early intervention. (United States)

    Picciolini, Odoardo; Porro, Matteo; Cattaneo, Elisa; Castelletti, Silvia; Masera, Giuseppe; Mosca, Fabio; Bedeschi, Maria Francesca


    Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS. The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS. Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits. Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.

  10. [Clinical characteristics of children with an initial onset of IgA nephropathy with nephrotic syndrome]. (United States)

    Zhang, Liang; Li, Zhi-Hui; Yin, Yan; Duan, Cui-Rong; Xun, Mai; Wu, Tian-Hui; Zhang, Yi; Ding, Yun-Feng


    To study the clinical characteristics of children with an initial onset of IgA nephropathy with nephrotic syndrome and compare them with children with primary nephrotic syndrome, in order to provide a theoretical basis for the differential diagnosis of the two diseases. Fifty children diagnosed with an initial onset of IgA nephropathy with nephrotic syndrome were included in this study. Seventy-two children diagnosed with an initial onset of primary nephrotic syndrome served as the control group. The clinical and laboratory examination characteristics were compared between the two groups. The IgA nephropathy group had significantly higher incidence rates of gross haematuria, microscopic haematuria, hypertension, acute kidney injury, low serum high-density lipoprotein cholesterol, anemia, low serum complement C4, steroid resistance, and nephritis-type nephrotic syndrome and a significantly lower incidence of elevated serum IgE compared with the control group (Psyndrome and primary nephrotic syndrome. Children with IgA nephropathy presenting nephrotic syndrome manifest mainly as nephritis type and steroid-resistant type in the clinical classification. Cinical manifestations accompanied by serum levels of high-density lipoprotein cholesterol and IgE are helpful for differential diagnosis of IgA nephropathy presenting nephrotic syndrome and primary nephrotic syndrome.

  11. Are eating disorders culture-bound syndromes? Implications for conceptualizing their etiology. (United States)

    Keel, Pamela K; Klump, Kelly L


    The authors explore the extent to which eating disorders, specifically anorexia nervosa (AN) and bulimia nervosa (BN), represent culture-bound syndromes and discuss implications for conceptualizing the role genes play in their etiology. The examination is divided into 3 sections: a quantitative meta-analysis of changes in incidence rates since the formal recognition of AN and BN, a qualitative summary of historical evidence of eating disorders before their formal recognition, and an evaluation of the presence of these disorders in non-Western cultures. Findings suggest that BN is a culture-bound syndrome and AN is not. Thus, heritability estimates for BN may show greater variability cross-culturally than heritability estimates for AN, and the genetic bases of these disorders may be associated with differential pathoplasticity.

  12. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

    NARCIS (Netherlands)

    K. Tatton-Brown (Katrina); A. Murray (Anna); S. Hanks (Sandra); J. Douglas (Jenny); R. Armstrong (Ruth); S. Banka (Siddharth); L.M. Bird (Lynne); C.L. Clericuzio (Carol); V. Cormier-Daire (Valerie); T. Cushing (Tom); F. Flinter (Frances); S. Jacquemont (Sébastien); S. Joss (Shelagh); E. Kinning (Esther); S.A. Lynch; A. Magee (Alex); V. Mcconnell (Vivienne); A. Medeira (Ana); K. Ozono (Keiichi); M. Patton (Michael); J. Rankin (Julia); D.J. Shears (Deborah); M.E.H. Simon (Marleen); M. Splitt (M.); V. Strenger (Volker); K.E. Stuurman (Kyra); C. Taylor (Clare); H. Titheradge (Hannah); L. van Maldergem (Lionel); I.K. Temple; T.J. Cole (Trevor); S. Seal (Sheila); N. Rahman (Nazneen)


    textabstractWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with

  13. Drug-induced Brugada syndrome: Clinical characteristics and risk factors

    NARCIS (Netherlands)

    Konigstein, Maayan; Rosso, Raphael; Topaz, Guy; Postema, Pieter G.; Friedensohn, Limor; Heller, Karin; Zeltser, David; Belhassen, Bernard; Adler, Arnon; Viskin, Sami


    Cardiac arrest may result from seemingly innocuous medications that do not necessarily have cardiac indications. The best-known example is the drug-induced long QT syndrome. A less known but not necessarily less important form of drug-induced proarrhythmia is the drug-induced Brugada syndrome. The

  14. Thrombocytopenia-absent radius syndrome: a clinical genetic study.

    NARCIS (Netherlands)

    Greenhalgh, K.L.; Howell, R.; Bottani, A.; Ancliff, P.J.; Brunner, H.G.; Verschuuren-Bemelmans, C.C.; Vernon, E.; Brown, K.W.; Newbury-Ecob, R.


    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

  15. Thrombocytopenia-absent radius syndrome : a clinical genetic study

    NARCIS (Netherlands)

    Greenhalgh, KL; Howell, RT; Bottani, A; Ancliff, PJ; Brunner, HG; Verschuuren-Bemelmans, CC; Vernon, E; Brown, KW; Newbury-Ecob, RA


    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

  16. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents : Is there an age effect?

    NARCIS (Netherlands)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J.; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with

  17. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva


    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 syndrom...

  18. Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

    Directory of Open Access Journals (Sweden)

    Hisham Megahed


    Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype.

  19. Clinical presentation and management of arterial thoracic outlet syndrome. (United States)

    Vemuri, Chandu; McLaughlin, Lauren N; Abuirqeba, Ahmmad A; Thompson, Robert W


    Arterial thoracic outlet syndrome (TOS) is a rare condition characterized by subclavian artery pathology associated with a bony abnormality. This study assessed contemporary clinical management of arterial TOS at a high-volume referral center. A prospectively maintained database was used to conduct a retrospective review of patients undergoing primary or reoperative treatment for arterial TOS during an 8-year period (2008 to 2016). Presenting characteristics, operative findings, and clinical and functional outcomes were evaluated. Forty patients underwent surgical treatment for arterial TOS, representing 3% of 1401 patients undergoing operations for all forms of TOS during the same interval. Patients were a mean age of 40.3 ± 2.2 years (range, 13-68 years), and 72% were women. More than half presented with upper extremity ischemia/emboli (n = 21) or posterior stroke (n = 2), including eight that had required urgent brachial artery thromboembolectomy. The presentation in 17 (42%) was nonvascular, with 11 having symptoms of neurogenic TOS and six having an asymptomatic neck mass or incidentally discovered subclavian artery dilatation. All patients underwent thoracic outlet decompression (25 supraclavicular, 15 paraclavicular), of which there were 30 (75%) with a cervical rib (24 complete, 6 partial), 5 with a first rib abnormality, 4 with a clavicle fracture, and 1 (reoperation) with no remaining bone abnormality. Subclavian artery reconstruction was performed in 70% (26 bypass grafts, 1 patch, 1 suture repair), and 30% had mild subclavian artery dilatation (<100%) requiring no arterial reconstruction. Mean postoperative length of stay was 5.4 ± 0.6 days. During a mean follow-up of 4.5 ± 0.4 years (range, 0.9-8.1 years), subclavian artery patency was 92%, none had further dilatation or embolism, and chronic symptoms were present in six (4 postischemic/vasospasm, 2 neurogenic). Functional outcomes measured by scores on the 11-item version of the

  20. Molecular Characterization of Peripheral Extracellular Vesicles in Clinically Isolated Syndrome: Preliminary Suggestions from a Pilot Study

    Directory of Open Access Journals (Sweden)

    Nicoletta Nuzziello


    Full Text Available Extracellular vesicles (EVs, nanoparticles originated from different cell types, seem to be implicated in several cellular activities. In the Central Nervous System (CNS, glia and neurons secrete EVs and recent studies have demonstrated that the intercellular communication mediated by EVs has versatile functional impact in the cerebral homeostasis. This essential role may be due to their proteins and RNAs cargo that possibly modify the phenotypes of the targeted cells. Despite the increasing importance of EVs, little is known about their fluctuations in physiological as well as in pathological conditions. Furthermore, only few studies have investigated the contents of contemporary EVs subgroups (microvesicles, MVs and exosomes, EXOs with the purpose of discriminating between their features and functional roles. In order to possibly shed light on these issues, we performed a pilot study in which MVs and EXOs extracted from serum samples of a little cohort of subjects (patients with the first clinical evidence of CNS demyelination, also known as Clinically Isolated Syndrome and Healthy Controls were submitted to deep small-RNA sequencing. Data were analysed by an in-home bioinformatics platform. In line with previous reports, distinct classes of non-coding RNAs have been detected in both the EVs subsets, offering interesting suggestions on their origins and functions. We also verified the feasibility of this extensive molecular approach, thus supporting its valuable use for the analysis of circulating biomarkers (e.g., microRNAs in order to investigate and monitor specific diseases.

  1. Night eating syndrome in young adults: delineation from other eating disorders and clinical significance. (United States)

    Fischer, Sophia; Meyer, Andrea H; Hermann, Ernst; Tuch, Alex; Munsch, Simone


    The Night Eating Syndrome (NES) is a recently described disordered eating style whose status in current diagnostic systems needs to be further clarified. The aim of this study was to increase knowledge about the clinical features of NES in a sample of 1514 young adults aged 18-26 years from the general population who participated in an anonymous Internet survey. We first examined characteristics of NES and tried to delineate it from healthy controls as well as from other eating disorders in terms of socio-demography, eating disorder pathology and general psychopathology. Second, we attempted to further clarify the clinical utility of the NES by assessing the degree of distress as well as impairment. Twenty (1.3%) participants with NES were identified and there was only modest overlap between NES and both Binge Eating Disorder (BED) and Bulimia nervosa (BN) according to questionnaire-based DSM-IV criteria. Compared to healthy controls, NES individuals reported more pronounced eating disorder pathology as well as general psychopathology (depressive symptoms, chronic social stress). NES seems to be associated with considerable distress and impairment. Implications for the validity and classification of NES are discussed. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  2. Myalgic Encephalomyelitis, Chronic Fatigue Syndrome, and Systemic Exertion Intolerance Disease: Three Distinct Clinical Entities

    Directory of Open Access Journals (Sweden)

    Frank N.M. Twisk


    Full Text Available Many researchers consider chronic fatigue syndrome (CFS to be a synonym of Myalgic Encephalomyelitis (ME. However, the case criteria of ME and CFS define two distinct clinical entities. Although some patients will meet both case criteria, other patients can meet the diagnosis of ME and not fulfil the case criteria for CFS, while the diagnosis of CFS is largely insufficient to be qualified as a ME patient. ME is a neuromuscular disease with distinctive muscular symptoms, including prolonged muscle weakness after exertion, and neurological signs implicating cerebral dysfunction, including cognitive impairment and sensory symptoms. The only mandatory symptom of CFS is chronic fatigue. Chronic fatigue must be accompanied by at least four out of eight nonspecific symptoms: substantial impairment in short-term memory or concentration, a sore throat, tender lymph nodes, muscle pain, multijoint pain, a new type of headaches, unrefreshing sleep, and postexertional “malaise” lasting more than 24 h. So, regardless whether the name ME is appropriate or not, ME is not synonymous to CFS. That is not a matter of opinion, but a matter of definition. Due to the definitions of ME and CFS, “ME/CFS” does not exist and cannot be replaced by a new clinical entity (SEID: Systemic Exertion Intolerance Disease, as recently suggested.

  3. Implications of slow waves and shifting epileptiform discharges in Angelman syndrome. (United States)

    Yum, Mi-Sun; Lee, Eun Hye; Kim, Joo-Hyun; Ko, Tae-Sung; Yoo, Han-Wook


    Angelman syndrome is a genetic syndrome resulted from a lack of UBE3A gene expression of the maternally inherited abnormalities of chromosome 15q11-q13. About 90% of patients with Angelman syndrome experience epilepsy and its distinctive electroencephalographic changes. Epilepsy predominates in childhood, but may persist in adulthood. The seizure types may be quite varied and sometimes difficult to control. We retrospectively reviewed and analyzed data of 18 patients with genetically and clinically confirmed Angelman syndrome at Asan Medical Center. An analysis of 53 electroencephalography (EEG) records from 18 patients showed that diffuse slow-wave background patterns were significantly associated with uncontrolled periods of epilepsy. Moreover, epileptiform discharges tended to shift from posterior to anterior head regions over time after an initial normal pattern at a young age. Children with Angelman syndrome follow general developmental patterns, with specific patterns of EEG reflecting the maturational pattern of the brain and epileptic activity. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  4. Variability of CSF Alzheimer's disease biomarkers: implications for clinical practice.

    Directory of Open Access Journals (Sweden)

    Stephanie J B Vos

    Full Text Available BACKGROUND: Cerebrospinal fluid (CSF biomarkers are increasingly being used for diagnosis of Alzheimer's disease (AD. OBJECTIVE: We investigated the influence of CSF intralaboratory and interlaboratory variability on diagnostic CSF-based AD classification of subjects and identified causes of this variation. METHODS: We measured CSF amyloid-β (Aβ 1-42, total tau (t-tau, and phosphorylated tau (p-tau by INNOTEST enzyme-linked-immunosorbent assays (ELISA in a memory clinic population (n = 126. Samples were measured twice in a single or two laboratories that served as reference labs for CSF analyses in the Netherlands. Predefined cut-offs were used to classify CSF biomarkers as normal or abnormal/AD pattern. RESULTS: CSF intralaboratory variability was higher for Aβ1-42 than for t-tau and p-tau. Reanalysis led to a change in biomarker classification (normal vs. abnormal of 26% of the subjects based on Aβ1-42, 10% based on t-tau, and 29% based on p-tau. The changes in absolute biomarker concentrations were paralleled by a similar change in levels of internal control samples between different assay lots. CSF interlaboratory variability was higher for p-tau than for Aβ1-42 and t-tau, and reanalysis led to a change in biomarker classification of 12% of the subjects based on Aβ1-42, 1% based on t-tau, and 22% based on p-tau. CONCLUSIONS: Intralaboratory and interlaboratory CSF variability frequently led to change in diagnostic CSF-based AD classification for Aβ1-42 and p-tau. Lot-to-lot variation was a major cause of intralaboratory variability. This will have implications for the use of these biomarkers in clinical practice.

  5. Clinical Observation of a Child with KID (Keratitis-Ichthyosis-Deafness Syndrome

    Directory of Open Access Journals (Sweden)

    V.A. Klymenko


    Full Text Available A clinical case of keratitis-ichthyosis-deafness (KID syndrome in an infant is described. The article familia-rizes pediatricians and family doctors with difficulties in the diagnosis of this rare genetic disease in infants.

  6. Are personality patterns and clinical syndromes associated with patients' motives and percieved outcome of othognathic surgery?

    DEFF Research Database (Denmark)

    Petersen, Jesper Øland; Jensen, J.; Melsen, Birte


    A study of surgical-orthodontic patients was performed to assess whether signs of personality patterns and psychologically defined clinical syndromes influenced patients' motives for treatment, perceived oral function, self-concept, social interaction, and overall satisfaction with treatment....

  7. The image schema and innate archetypes: theoretical and clinical implications. (United States)

    Merchant, John


    Based in contemporary neuroscience, Jean Knox's 2004 JAP paper 'From archetypes to reflective function' honed her position on image schemas, thereby introducing a model for archetypes which sees them as 'reliably repeated early developmental achievements' and not as genetically inherited, innate psychic structures. The image schema model is used to illustrate how the analyst worked with a patient who began life as an unwanted pregnancy, was adopted at birth and as an adult experienced profound synchronicities, paranormal/telepathic phenomena and visions. The classical approach to such phenomena would see the intense affectivity arising out of a ruptured symbiotic mother-infant relationship constellating certain archetypes which set up the patient's visions. This view is contrasted with Knox's model which sees the archetype an sich as a developmentally produced image schema underpinning the emergence of later imagery. The patient's visions can then be understood to arise from his psychoid body memory related to his traumatic conception and birth. The contemporary neuroscience which supports this view is outlined and a subsequent image schema explanation is presented. Clinically, the case material suggests that a pre-birth perspective needs to be explored in all analytic work. Other implications of Knox's image schema model are summarized. © 2016, The Society of Analytical Psychology.

  8. Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome (United States)

    Akahira-Azuma, Moe; Tsurusaki, Yoshinori; Enomoto, Yumi; Mitsui, Jun; Kurosawa, Kenji


    We describe an 8-year-old Japanese boy with a de novo recurrent missense mutation in CSNK2A1, c.593A>G, that is causative of Okur–Chung neurodevelopmental syndrome. He exhibited distinctive facial features, severe growth retardation with relative macrocephaly, and friendly, hyperactive behavior. His dysmorphic features might suggest a congenital histone modification defect syndrome, such as Kleefstra, Coffin–Siris, or Rubinstein–Taybi syndromes, which are indicative of functional interactions between the casein kinase II, alpha 1 gene and histone modification factors. PMID:29619237

  9. EEC syndrome sans clefting: Variable clinical presentations in a family

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal


    Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.


    Directory of Open Access Journals (Sweden)

    N. A. Shostak


    Full Text Available The problem of pain today remains one of the fundamental issues of medical care. It is known that the pain is the leading cause of treatmentto the doctor. Among pain syndromes, a special place belongs to the complex regional pain syndromes. They are distinguished by the multidisciplinary problem, the presence of explicit nature of the pain, difficulty of diagnosis and nature of the treatment. The article presentsmodern data on the diagnosis and treatment of the complex regional pain syndromes.

  11. [Wolfram syndrome: clinical and genetic analysis in two sisters]. (United States)

    Conart, J-B; Maalouf, T; Jonveaux, P; Guerci, B; Angioi, K


    Wolfram syndrome is a severe genetic disorder defined by the association of diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. Two sisters complained of progressive visual loss. Fundus examination evidenced optic atrophy. Their past medical history revealed diabetes mellitus and deafness since childhood. The association of these symptoms made the diagnosis of Wolfram syndrome possible. It was confirmed by molecular analysis, which evidenced composite WFS1 heterozygous mutations inherited from both their mother and father. Ophthalmologists should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  12. A severe form of Crouzon's Syndrome: clinical and radiological correlation

    International Nuclear Information System (INIS)

    Abdallah, Ahmad M.


    Craniofacial dysostosis (Crouzon's syndrome) is a well defined, dominantly inherited disorder, described by Crouzon in 1912. It is characterized by several deformities involving the skull,face and eyes. This case report details a rare form of Crouzon's syndrome in which proptosis was so severe that globes were completely proptotic outside the patient's extremely shallow orbits, and the eyelids were undeveloped bilaterally and replaced by small folds of skin. It appears that this is the first report of such a severe form of Crouzon's syndrome. (author)

  13. [Clinical analysis of metabolic syndrome in vertiginous diseases]. (United States)

    Yamanaka, Toshiaki; Fukuda, Takehiko; Sawai, Yachiyo; Shirota, Shiho; Shimizu, Naoki; Murai, Takayuki; Okamoto, Hideyuki; Fujita, Nobuya; Hosoi, Hiroshi


    To explore the relationship between metabolic syndrome and vertigo, we measured waist circumference, plasma glucose, triglycerides and blood pressure in 333 subjects aged 20-79 years with vertigo. We found overall metabolic syndrome prevalence defined by Japanese diagnostic criteria to be 13.2%, similar to that in other national surveys by the Japanese Ministry of Health, Labour and Welfare. The 6-fold higher prevalence in men over women exceeded that of other reports, however. The highest frequency was in vertebrobasilar insufficiency (VBI) disorders, suggesting that conditions such as VBI in men with vertigo could involve metabolic syndrome as a risk factor for vertigo incidence.

  14. Fatigue and fibromyalgia syndrome: clinical and neurophysiologic pattern. (United States)

    Casale, Roberto; Rainoldi, Alberto


    The concept of 'fatigue' is strictly related to parameters of the setting in which fatigue is measured. Therefore, it is mandatory to provide a definition of fatigue and the modalities of its use. This is of pivotal importance with regard to the fibromyalgia (FM) syndrome, where fatigue is the most invalidating symptom and where, paradoxically, no clear and widely accepted definition of fatigue is available in the literature as yet. In the clinical setting, fatigue can be measured by different methods of various complexity. The simplest technique to assess fatigue involves the use of a visual analogue scale (VAS); however, a number of scales with differing levels of complexity are available for use. It is, often, difficult to detach the term 'fatigue' from tiredness and task failure, which correspond to two completely distinguished forms of fatigue: one with central origin (tiredness) and another which is localised within the muscle (peripheral muscle fatigue). The former is related to changes in motor-unit-recruitment strategies, whereas the latter is attributed to changes in membrane properties. To extensively assess fatigue and, partially, to avoid confusion among the types of fatigue described above, a number of laboratory tests have been developed; among these, there are multichannel surface electromyography (EMG) recordings. Using this type of an approach, it is possible the estimation of motor unit location within the muscle, the decomposition of the surface EMG (sEMG) interference signal into constituent trains of motor unit action potentials (MUAPs) and the analysis of single unit properties. Copyright © 2011 Elsevier Ltd. All rights reserved.

  15. Molecular and clinical study of 61 Angelman syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Saitoh, Shinji; Harada, Naoki; Jinno, Yoshihiro; Niikawa, Norio [Nagasaki Univ. School of Medicine (Japan); Imaizumi, Kiyoshi; Kuroki, Yoshikazu; Fukushima; Yoshimitsu; Sugimoto, Tateo; Renedo, Monica


    We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporadic cases without deletion. Among 53 sporadic cases, 37 (70%) had molecular deletion, which commonly extended from D15S9 to D15S12, although not all deletions were identical. Of 8 familial cases, 3 sibs from one family had a molecular deletion involving only 2 loci, D15S10 and GABRB3, which define the critical region for AS phenotypes. The parental origin of deletion, both in sporadic and familial cases, was exclusively maternal and consistent with a genomic imprinting hypothesis. Among sporadic and familial cases without deletion, no uniparental disomy was found and most of them were shown to inherit chromosomes 15 from both parents (biparental inheritance). A discrepancy between cytogenetic and molecular deletion was observed in 14 (26%) of 53 patients in whom cytogenetic analysis could be performed. Ten (43%) of 23 patients with a normal karyotype showed a molecular deletion, and 4 (13%) of 30 patients with cytogenetic deletion, del(15) (q11q13), showed no molecular deletion. Most clinical manifestations, including neurological signs and facial characteristics, were not distinct in each group except for hypopigmentation of skin or hair. Familial cases with submicroscopic deletion were not associated with hypopigmentation. These findings suggested that a gene for hypopigmentation is located outside the critical region of AS and is not imprinted. 37 refs., 2 figs., 4 tabs.

  16. Superior canal dehiscence syndrome: clinical manifestations and radiologic correlations. (United States)

    Saliba, Issam; Maniakas, Anastasios; Benamira, Lina Zahra; Nehme, Jade; Benoit, Mélanie; Montreuil-Jacques, Véronique


    The objective of this study is to describe the superior canal dehiscence syndrome (SCDS) and its vestibule-cochlear manifestations, while analyzing dehiscence size, audiogram and vestibular-evoked myogenic potential (VEMP) changes following dehiscence obliteration. We conducted a prospective study in a tertiary referral center. All Patients diagnosed and surgically treated for SCDS were operated through a middle fossa craniotomy (MFC). Clinical and radiological data were collected. The main outcome measures were Air-bone gaps, Pure-tone average (PTA), speech discrimination scores (SDS) and VEMP thresholds and were correlated to dehiscence size. 28 patients were included in this study with a mean dehiscence size of 4.68 mm. Phonophobia and imbalance were the most debilitating cochlear and vestibular symptoms, respectively. At 2 months postoperatively, low-frequency air-bone gaps showed a statistically significant improvement (p < 0.001). SDS and PTA did not show any statistically significant changes 2 months postoperatively (p = 0.282 and p = 0.295, respectively). VEMP threshold differences between operated and contralateral ears were statistically significant preoperatively (p < 0.001) and non-significant 2 months postoperatively (p = 0.173). Dehiscence size only showed a statistically significant correlation with preoperative total cochlear symptoms, while remaining insignificant with all other variables measured. Air-bone gaps, VEMP and computerized tomography remain essential tools in diagnosing and following SCDS. Dehiscence size is an independent factor in the analysis of SCDS, with cochlear symptomatology being associated to dehiscence sizes. Finally, it is shown that overall symptomatology, audiometric results and VEMP thresholds return to normal values post-obliteration, confirming the continuing success of the MFC approach for SCDS obliteration.

  17. Molecular and clinical characterization of Angelman syndrome in Chinese patients. (United States)

    Bai, J-L; Qu, Y-J; Jin, Y-W; Wang, H; Yang, Y-L; Jiang, Y-W; Yang, X-Y; Zou, L-P; Song, F


    Angelman syndrome (AS) is a neurobehavioral disorder caused by lack of function of the maternal copy of the ubiquitin-protein ligase E3A (UBE3A) gene. In our study, 49 unrelated patients with classic AS phenotypes were confirmed by methylation-specific PCR (MS-PCR) analysis, short tandem repeat linkage analysis, and mutation screening of the UBE3A gene. Among the Chinese AS patients, 83.7% (41/49) had deletions on maternal chromosome 15q11.2-13. Paternal uniparental disomy, imprinting defects, and UBE3A gene mutations each accounted for 4.1% (2/49). Two AS patients were confirmed by MS-PCR analysis, but the pathogenic mechanism was unknown because their parents' samples were unavailable. Of the two described UBE3A gene mutations, that is, p.Pro400His (c.1199C>A) and p.Asp563Gly (c.1688A>G), the latter has not been reported previously. Mutation transmission analysis showed that the p.Pro400His and p.Asp563Gly mutations originated from asymptomatic mothers. The patients with the maternal deletion showed AS clinical manifestations that were consistent with other studies. However, the incidence of microcephaly (36.7%, 11/30) was lower than that in the Caucasian population (approximately 80%), but similar to that of the Japanese population (34.5%). Our study demonstrated that the occurrence of microcephaly in AS may vary among different populations. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


    Directory of Open Access Journals (Sweden)

    M.Yu. Kagan


    Full Text Available For the last decade a great successes were attained in the study of molecular bases of glomerular diseases. It was certain that the most frequent reasons of congenital and infantile nephrotic syndrome are mutations in the genes of NPHS1, NPHS2, and WT1. Nevertheless, until now, a number of patients, having combination of early nephrotic syndrome with inherent pathology of other organs, which etiology remains un known. These cases continue to be intensively probed. One of the most important recent achievements in understanding of molecular mechanisms of early nephrotic syndrome is the discovery of mutations of gene of LAMB2, encoding β2 laminin, as the cause of Pearson syndrome (OMIM#609049. In this article the author presents the basic genetic and clinical descriptions of this recently identified pathology. Key words: Pearson syndrome, congenital nephrotic syndrome, β2 laminin, malformation of organ of vision. (Pediatric Pharmacology. – 2010; 7(3:114-117

  19. The Diagnostic Accuracy of Clinical Diagnostic Tests for Thoracic Outlet Syndrome. (United States)

    Hixson, Krista M; Horris, Hannah B; McLeod, Tamara C Valovich; Bacon, Cailee E Welch


    Clinical Scenario: Thoracic outlet syndrome is quite challenging to diagnose. Currently, there are myriad diagnostic procedures used in the diagnosis of all types of thoracic outlet syndrome. However, controversy exists over which diagnostic procedures produce accurate findings. Can clinical diagnostic tests accurately diagnose patients presenting with symptoms of thoracic outlet syndrome? Summary of Key Findings: A thorough literature search returned 6 possible studies; 3 studies met the inclusion criteria and were included. Two studies supported the use of clinical diagnostic tests for the diagnosis of thoracic outlet syndrome. One study reported high false-positive rates among clinical diagnostic tests for thoracic outlet syndrome. One study reported that clinical diagnostic test findings correlate to provocative positioned magnetic resonance imaging findings. Clinical Bottom Line: There is moderate evidence to support the use of the Halstead maneuver (also known as the costoclavicular maneuver or exaggerated military brace test), Wright's test, Cyriax Release test, and supraclavicular pressure test to have good diagnostic accuracy for the provocation of symptoms in patients presenting with upper extremity pathology. However, these clinical diagnostic tests do not appear to allow for the differential diagnosis of thoracic outlet syndrome exclusively. The use of the Adson's test and Roos test should be discontinued for the differential diagnosis of thoracic outlet syndrome. Strength of Recommendation: Grade B evidence exists to support the accuracy of the Halstead maneuver, Wright's test, Cyriax Release test, and supraclavicular pressure test for the diagnosis of upper extremity pathology in general. Grade C evidence exists for the use of these clinical diagnostic tests to exclusively diagnose thoracic outlet syndrome.

  20. Clinical characteristics and treatment outcome of Stevens-Johnson syndrome and toxic epidermal necrolysis (United States)



    Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are erythematous skin lesions with blister formation accompanied by mucosal involvement. These conditions are considered to be life-threatening illnesses. Understanding the clinical presentation, risk factors, treatment options and results will be advantageous for physicians in the management of patients in the future. The aim of the present study was to review and analyze the clinical manifestations, drug implications, treatment and outcome of patients with SJS and/or TEN who had been hospitalized in a tertiary care center. All hospitalized patients with SJS and/or TEN during a 5-year period were retrospectively reviewed. The clinical severity was graded according to the score of toxic epidermal necrolysis (SCORTEN) scale. Clinical symptoms, diagnosis, possible precipitating factors, management and outcome data were collected for analysis. A total of 43 patients (mean age, 49.5 years) were hospitalized and classified into the SJS group (55.8%), SJS/TEN overlap group (20.9%) and TEN group (23.3%). The majority of the patients (90.7%) had mucocutaneous eruptions associated with oral drug administration. Allopurinol, anticonvulsants and antibiotics were the most common causative agents for the mucocutaneous eruption. Twenty-eight patients (65.1%) were treated with corticosteroids. The mortality rate was 6.9%. Comparison between the survival group and the non-survival group revealed that patient age >70 years (P=0.014) and body surface area involvement >20% (P<0.01) were the significant factors associated with mortality. The use of systemic steroids was higher in the survival group in comparison with the non-survival group (65.1 vs. 0%, respectively; P=0.014). The mucocutaneous eruptions in SJS and TEN are mostly caused by medication. With early recognition and treatment, the mortality rate in this study was lower than that in previous reports. Patient age and the area of mucocutaneous involvement

  1. Ethical, Legal, and Clinical Considerations when Disclosing a High-Risk Syndrome for Psychosis. (United States)

    Mittal, Vijay A; Dean, Derek J; Mittal, Jyoti; Saks, Elyn R


    There are complex considerations when planning to disclose an attenuated psychosis syndrome (APS) diagnosis. In this review, we evaluate ethical, legal, and clinical perspectives as well as caveats related to full, non- and partial disclosure strategies, discuss societal implications, and provide clinical suggestions. Each of the disclosure strategies is associated with benefits as well as costs/considerations. Full disclosure promotes autonomy, allows for the clearest psychoeducation about additional risk factors, helps to clarify and/or correct previous diagnoses/treatments, facilitates early intervention and bolsters communication between providers but there are important considerations involving heritability, comorbidity, culture, and stigma. Non-disclosure advances nonmaleficence by limiting stigma and stress (which may inadvertently exacerbate the condition), and confusion (related to the rapidly evolving diagnosis) in a sensitive developmental period but is complicated by varying patient preferences and the possibility that, as new treatments without adverse effects become available, the risk with false positives no longer justifies the accompanying loss of autonomy. Partial disclosure balances ethical considerations by focusing on symptoms instead of labels, but evidence that laypersons may interpret this information as a pseudo-diagnosis and that symptoms alone also contribute to stigma limits the efficacy of this approach. In addition, there are notable societal considerations relating to disclosure involving conservatorship, the reach of insurance companies, and discrimination. We advocate a hybrid approach to disclosure and recommend future research aimed at understanding the effects of stigma on clinical course and a renewed focus on those help-seeking cases that do not transition but remain clinically relevant. © 2015 John Wiley & Sons Ltd.

  2. Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases. (United States)

    Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi


    To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

  3. Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice? (United States)

    Castori, Marco


    Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

  4. The Rare Painful Phenomena - Chronic Paroxysmal Hemicrania-tic Syndrome as a Clinically Isolated Syndrome of the Central Nervous System. (United States)

    Ljubisavljevic, Srdjan; Prazic, Ana; Lazarevic, Miodrag; Stojanov, Dragan; Savic, Dejan; Vojinovic, Slobadan


    The association of paroxysmal hemicrania with trigeminal neuralgia (TN) has been described and called paroxysmal hemicrania-tic syndrome (PH-tic). We report the case of a patient diagnosed as having chronic PH-tic (CPH-tic) syndrome as a clinically isolated syndrome of the central nervous system (CNS) (CIS).A forty year old woman was admitted to our hospital suffering from right facial pain for the last 2 years. The attacks were paroxysmal, neuralgiform, consisting of throb-like sensations, which developed spontaneously or were triggered by different stimuli in right facial (maxilar and mandibular) areas. Parallel with those, she felt a throbbing orbital and frontal pain with homolateral autonomic symptoms such as conjunctival injection, lacrimation, and the feeling that the ear on the same side was full. This pain lasted most often between 15 and 20 minutes. Beyond hemifacial hypoesthesia in the region of right maxilar and mandibular nerve, the other neurological finding was normal. Magnetic resonance imaging (MRI) study showed a T2-weighted multiple hyperintense paraventricular lesion and hyperintense lesion in the right trigeminal main sensory nucleus and root inlet, all of them being hypointense on T1-weighted image. All of these lesions were hypointense in gadolinium-enhanced T1-weighted images. Neurophysiological studies of trigeminal nerve (somatosensory evoked potentials and blink reflex) correlated with MRI described lesions. The patient's pain bouts were improved immediately after treatment with indomethacin, and were completely relieved with lamotrigine for a longer period. According to the actual McDonald's criteria, clinical state was defined as CIS which was clinically presented by CPH-tic syndrome.Even though it is a clinical rarity and its etiology is usually idiopathic, CPH-tic syndrome can also be symptomatic. When dealing with symptomatic cases, like the one described here, when causal therapy is not possible due to the nature of the primary

  5. International Rett Syndrome Foundation (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  6. Understanding the placebo effect in clinical trials for postural tachycardia syndrome. (United States)

    Nwazue, Victor C; Arnold, Amy C; Raj, Vidya; Black, Bonnie K; Biaggioni, Italo; Paranjape, Sachin Y; Orozco, Carlos; Dupont, William D; Robertson, David; Raj, Satish R


    Postural tachycardia syndrome (POTS) is characterized by excessive increases in heart rate (HR) upon standing. Previous studies have shown that standing HR decreases over time in POTS patients given placebo. We hypothesized that this reduction is due to cardiovascular physiological alteration, as opposed to psychological benefit from perceived therapy. To prospectively test this hypothesis, we examined the effects of an open-label 'no treatment' intervention (NoRx) compared with a patient-blinded placebo on standing HR in POTS patients. Twenty-one POTS patients participated in a randomized cross-over trial with oral placebo versus NoRx administered at 0900 h. Seated blood pressure (BP) and HR were measured at baseline and every hour for 4 h. Similarly, BP and HR were measured while patients stood for 10 min at these time points. Standing HR decreased significantly over time with both NoRx (112±13 and 103±16 b.p.m. at baseline and 4 h, respectively) and placebo (112±14 and 102±16 b.p.m. at baseline and 4 h, respectively; Ptimeeffect was not different between interventions (Pdrug=0.771). Postural tachycardia syndrome patients have exaggerated orthostatic tachycardia in the morning that decreases over time with either placebo or NoRx interventions, suggesting this phenomenon is due to cardiovascular physiological variation. These data highlight the need for a placebo arm in haemodynamic clinical trials in POTS and may have important implications for the diagnosis of these patients. © 2014 Wiley Publishing Asia Pty Ltd.

  7. A clinical perspective of obesity, metabolic syndrome and cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Thang S Han


    Full Text Available The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30–40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5–10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35–40 kg/m 2 with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists.

  8. Diabetes mellitus in patients with cirrhosis: clinical implications and management. (United States)

    Elkrief, Laure; Rautou, Pierre-Emmanuel; Sarin, Shiv; Valla, Dominique; Paradis, Valérie; Moreau, Richard


    Disorders of glucose metabolism, namely glucose intolerance and diabetes, are frequent in patients with chronic liver diseases. In patients with cirrhosis, diabetes can be either a classical type 2 diabetes mellitus or the so-called hepatogenous diabetes, i.e. a consequence of liver insufficiency and portal hypertension. This review article provides an overview of the possible pathophysiological mechanisms explaining diabetes in patients with cirrhosis. Cirrhosis is associated with portosystemic shunts as well as reduced hepatic mass, which can both impair insulin clearance by the liver, contributing to peripheral insulin resistance through insulin receptors down-regulation. Moreover, cirrhosis is associated with increased levels of advanced-glycation-end products and hypoxia-inducible-factors, which may play a role in the development of diabetes. This review also focuses on the clinical implications of diabetes in patients with cirrhosis. First, diabetes is an independent factor for poor prognosis in patients with cirrhosis. Specifically, diabetes is associated with the occurrence of major complications of cirrhosis, including ascites and renal dysfunction, hepatic encephalopathy and bacterial infections. Diabetes is also associated with an increased risk of hepatocellular carcinoma in patients with chronic liver diseases. Last, the management of patients with concurrent diabetes and liver disease is also addressed. Recent findings suggest a beneficial impact of metformin in patients with chronic liver diseases. Insulin is often required in patients with advanced cirrhosis. However, the favourable impact of controlling diabetes in patients with cirrhosis has not been demonstrated yet. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. (United States)

    Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard


    The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  10. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. (United States)

    Ganie, M A; Laway, B A; Nisar, S; Wani, M M; Khurana, M L; Ahmad, F; Ahmed, S; Gupta, P; Ali, I; Shabir, I; Shadan, A; Ahmed, A; Tufail, S


    Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India. Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ±7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied. The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  11. Proprioception: where are we now? A commentary on clinical assessment, changes across the life course, functional implications and future interventions. (United States)

    Suetterlin, Karen Joan; Sayer, Avan Aihie


    Proprioception, the sense of where one is in space, is essential for effective interaction with the environment. A lack of or reduction in proprioceptive acuity has been directly correlated with falls and with reduced functional independence in older people. Proprioceptive losses have also been shown to negatively correlate with functional recovery post stroke and play a significant role in other conditions such as Parkinson's disease. However, despite its central importance to many geriatric syndromes, the clinical assessment of proprioception has remained remarkably static. We look at approaches to the clinical assessment of proprioception, changes in proprioception across the life course, functional implications of proprioception in health and disease and the potential for targeted interventions in the future such as joint taping, and proprioception-specific rehabilitation and footwear.

  12. A Clinical Pharmacist's Role in Screening for Metabolic Syndrome in a Rural Pediatric Ambulatory Clinic (United States)

    Benavides, Sandra; Kohler, Lisa A.; Souffrant, Garry


    Purpose: The prevalence of metabolic syndrome in the pediatric population is increasing. Barriers, including the lack of consensus of a definition for metabolic syndrome and time constraints for the pediatrician, may limit the identification and diagnosis of metabolic syndrome in children. The objective of this pilot study was to evaluate the role…

  13. The clinical significance of pregnancy in Brugada syndrome. (United States)

    Rodríguez-Mañero, Moisés; Casado-Arroyo, Rubén; Sarkozy, Andrea; Leysen, Eva; Sieira, Juan Antonio; Namdar, Mehdi; Conte, Gulio; Levinstein, Moisés; Chierchia, Gian-Battista; de Asmundis, Carlo; Brugada, Pedro


    Little is known about the risks and outcomes of pregnancy in women with Brugada syndrome. We therefore evaluated pregnancy outcomes and the influence of pregnancy in patients with Brugada syndrome. A retrospective analysis was performed in all pregnant women with Brugada syndrome. We included 104 women with a total of 219 deliveries. There were 15 spontaneous abortions. One infant died suddenly during the night 3 months after birth. Six pregnant women reported they had experienced at least 1 syncope during the pregnancy. Of the 3 women who received an implantable cardioverter-defibrillator before the pregnancy, none received arrhythmia episodes. There were no events during the pregnancy in 4 patients with a previously aborted sudden cardiac death. Of 24 patients with syncope when not pregnant, 18 were asymptomatic and 6 experienced a recurrent syncope during the pregnancy. During the follow-up (mean follow-up 298.9 days; 95% confidence interval, 289.6-308.2), 2 women received appropriate shocks. In this retrospective, single-center study, serious events were not more frequent during pregnancy and the peripartum period in women with Brugada syndrome. The occurrence of syncope during pregnancy was not associated with a worst outcome in the peri- and postpartum periods or during follow-up. The reported rate of miscarriage and sudden infant death will require further studies to confirm or rule out its association with Brugada syndrome. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  14. Down syndrome and moyamoya: clinical presentation and surgical management. (United States)

    See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R


    OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

  15. Periodic Epileptiform Discharges Clarified for the Nonneurologist Intensivist: Clinical Implications and Current Management. (United States)

    Lahiri, Shouri; Boro, Alexis D; Shiloh, Ariel L; Milstein, Mark J; Savel, Richard H


    Periodic epileptiform discharges (PEDs) are frequently encountered during continuous electroencephalography monitoring in the intensive care unit. Their implications and management are variable and highly dependent on the clinical context. This article is intended for the nonneurologist intensivist, reviews basic terminology and clinical implications (including causes, prognosis, and association with seizures), and suggests an approach to management. Several case vignettes are included to illustrate the clinical variability associated with PEDs. © The Author(s) 2013.

  16. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD


    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  17. The clinical aspects of the acute facet syndrome

    DEFF Research Database (Denmark)

    Hestbaek, Lise; Kongsted, Alice; Jensen, Tue Secher


    to agree on the number, frequency and duration of chiropractic treatment. RESULTS: Thirty-four chiropractors from nine European countries participated. They described the characteristics of an acute, uncomplicated facet syndrome as follows: local, ipsilateral pain, occasionally extending into the thigh...... that there would be no signs of neurologic involvement or antalgic posture and no aggravation of pain from sitting, flexion or coughing/sneezing. CONCLUSION: The chiropractors attending the workshop described the characteristics of an acute, uncomplicated lumbar facet syndrome in much the same way as chronic pain......ABSTRACT: BACKGROUND: The term 'acute facet syndrome' is widely used and accepted amongst chiropractors, but poorly described in the literature, as most of the present literature relates to chronic facet joint pain. Therefore, research into the degree of consensus on the subject amongst a large...

  18. The Clinical Differentiation of Cerebellar Infarction from Common Vertigo Syndromes

    Directory of Open Access Journals (Sweden)

    Nelson, James A


    Full Text Available This article summarizes the emergency department approach to diagnosing cerebellar infarction in the patient presenting with vertigo. Vertigo is defined and identification of a vertigo syndrome is discussed. The differentiation of common vertigo syndromes such as benign paroxysmal positional vertigo, Meniere’s disease, migrainous vertigo, and vestibular neuritis is summarized. Confirmation of a peripheral vertigo syndrome substantially lowers the likelihood of cerebellar infarction, as do indicators of a peripheral disorder such as an abnormal head impulse test. Approximately 10% of patients with cerebellar infarction present with vertigo and no localizing neurologic deficits. The majority of these may have other signs of central vertigo, specifically direction-changing nystagmus and severe ataxia.[West J Emerg Med. 2009;10(4:273-277.

  19. Clinical radiation diagnostics of shoulder joint impingement syndrome

    International Nuclear Information System (INIS)

    Litvin, Yu.P.; Logvinenko, V.V.


    46 patients about an impingement are investigated by a syndrome of a humeral joint. Among them men was 28 (60,9 %) the person, women 18 (39,1 %). Middle age of the surveyed has made 52,6 ± 2,0 year. The traditional roentgenography is executed to all patients, a spiral computer tomography - 5 (10,9 %), an ultrasonography - 44 (95,7 %), a magnetic resonance imaging - 11 (23,9 %). Operative treatment is spent 16 (34,8 %) by the patient. Direct radial symptoms are what specify an impingement of a syndrome of a humeral joint in the reasons, indirect - symptoms of an inflammation both degenerate and dystrophic changes of structures of area of a humeral joint which are involved in pathological process. The best results are given by complex radial research at which it is possible to find out direct and indirect symptoms a syndrome impingement

  20. The radiological and clinical features of Gardner's syndrome

    International Nuclear Information System (INIS)

    Peters, P.E.; Gaebler, J.; Lingemann, B.; Ritter, W.; Muenster Univ.; Muenster Univ.


    Gardner's syndrome, completely expressed, consists of a trio of familial polyposis of the colon, osteomas and mesenchymal tumours of the skin. Inheritence is autosomal dominant. In many patients with familial polyposis of the colon, only mesenchymal skin tumours or osteomas can be demonstrated. It is therefore possible that Gardner's syndrome and familial polyposis represent two extremities of a single disease which is characterised by marked variability in the expressivity of the gene. Gardner's syndrome has been considered a rare condition occurring in only about 8% of patients with familial polyposis. Amongst the 20 patients with colonic polyposis from eleven families, mesenchymal and/or osseous lesions were found in seventeen (85%). Osteomas of the mandible were shown particularly frequently by orthopantomography. Since polyposis of the colon tends to remain symptomless for many years, the finding of oesteomas in the facial skeleton, or recurrent skin tumours in young patients, should lead to further investigation. (orig.) [de

  1. A study of pathogenesis of Acanthosis nigricans and its clinical implications

    Directory of Open Access Journals (Sweden)

    Neerja Puri


    Full Text Available Background: Acanthosis nigricans (AN is a dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Common in some populations, its prevalence depends on race. Clinicians should recognize AN; it heralds disorders ranging from endocrinologic disturbances to malignancy. In this review, we discuss the pathogenesis of AN and its clinical implications and management. Materials and Methods: We selected 30 patients for the study. Diagnosis of associated disorders was established by history, physical examination, body mass index (BMI, hormone measurements by radioimmunoassays of thyroidnfunction tests, free testosterone, 17 (OH progesterone, dehydroepiandrosterone sulfate (DHEAS, cortisol, gonadotropins, prolactin, immunoreactive insulin, and C-peptide levels. Results and Discussion: In our study, the flexural involvement (flexures of groins, knees and elbows was seen in 40% patients, lip involvement was seen in 6.6% patients, and dorsal involvement was seen in 3.3% patients each. Increased serum testosterone levels were seen in 13.3% patients and increased DHEAS levels were seen in 20% patients. Regarding the types of AN, obesity induced AN or pseudo-AN was seen 70% patients, syndromic AN was seen in 23.35% patients and malignant AN was seen in 6.6% patients. The commonest histopathological feature of patients with AN was hyperkeratosis, seen in 100% patients, papillomatosis was seen in 90% patients, dermal infiltrate of lymphocytes and plasma cells was seen in 60% patients, horn pseudocysts were seen in 30% patients, and irregular acanthosis was seen in 26.6% patients.

  2. The epigenomics of polycystic ovarian syndrome: from pathogenesis to clinical manifestations. (United States)

    Li, Shuxia; Zhu, Dongyi; Duan, Hongmei; Tan, Qihua


    Polycystic ovarian syndrome (PCOS) is a complex condition of ovarian dysfunction and metabolic abnormalities with widely varying clinical manifestations resulting from interference of the genome and the environment through integrative biological mechanisms with the emerging field of epigenetics offering an appealing tool for studying the nature and nurture of the disease. We review the current literature of epigenetic studies on PCOS from disease development to the association analysis of the DNA methylome and to exploratory studies on the molecular mechanisms of disease heterogeneity and comorbidity. Recent data based on profiling of the DNA methylome of PCOS in different tissues provided consistent molecular evidence in support of epidemiological findings on disease comorbidity suggesting a possible autoimmune basis in the pathogenesis of the disease. We show that the field of epigenetics and epigenomics could serve to link molecular regulatory mechanisms with disease development and disease manifestation which could contribute to PCOS prevention and treatment and eventually promote reproductive health in fertile age women. We summarize the up-to-date findings and discuss the implications of various studies and point to new avenues of research on PCOS in the rapidly developing field of epigenetics and epigenomics.

  3. Clinical manifestations and management of four children with Pearson syndrome. (United States)

    Tumino, Manuela; Meli, Concetta; Farruggia, Piero; La Spina, Milena; Faraci, Maura; Castana, Cinzia; Di Raimondo, Vincenzo; Alfano, Marivana; Pittalà, Annarita; Lo Nigro, Luca; Russo, Giovanna; Di Cataldo, Andrea


    Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease. Copyright © 2011 Wiley Periodicals, Inc.

  4. Mazabraud's syndrome. New clinical case and review of findings. (United States)

    Ramírez Mejía, Alex Roberto; Moreno Casado, María José; Ahumada Pavez, Nicolás Rodrigo; Rojas Soldado, María Ángeles

    Intramuscular myxomas are benign and rare tumors that affects predominantly the lower limbs. The association of myxomas and fibrous dysplasia, usually polyostotic, is rarer. This association is known as Mazabraud's syndrome, of which about 81 cases have been described in the literature. We present a new case of this uncommon association to emphasise the importance of recognizing this syndrome in the diagnosis and appropriate management of the patient. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  5. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi


    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin–Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted. PMID:28250421

  6. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. (United States)

    Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi


    KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted.

  7. Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair

    Directory of Open Access Journals (Sweden)

    Sana Durrani


    Full Text Available Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598C>T predicted to cause premature protein termination (p.Arg200∗. We also present a clinical approach to silver blonde hair differentiating between the Griscelli syndrome types 1, 2 and 3, Chediak Hegashi Syndrome and Elejalde Syndrome.

  8. Epidemiological and clinical aspects of the Guillain-Barre Syndrome

    NARCIS (Netherlands)

    R. van Koningsveld (Rinske)


    textabstractThe Guillain-Barre syndrome (GBS) is an acute immune-mediated disorder of the peripheral nerves. The essential features are a rapidly progressive, more or less symmetrical weakness of the limbs and decreased or absent tendon reflexes. The weakness reaches its nadir (maximum severity) by

  9. Gut fermentation syndrome | Fayemiwo | African Journal of Clinical ...

    African Journals Online (AJOL)

    It has been documented among few individuals who became intoxicated after consuming carbohydrates, which became fermented in the gastrointestinal tract. These claims of intoxication without drinking alcohol, and the findings on endogenous alcohol fermentation are now called Gut Fermentation Syndrome. This review ...

  10. Shaken baby syndrome: pathogenetic mechanism, clinical features and preventive aspects. (United States)

    Vitale, A; Vicedomini, D; Vega, G R; Greco, N; Messi, G


    The shaken baby syndrome (SBS) is an extremely serious form of child abuse and a leading cause of death and disability in childhood. The syndrome usually occurs in infants younger than 1 year when a parent or a care-giver tries to stop the baby from crying by vigorous manual shaking. The repetitive oscillations with rotational acceleration of the head can result in injuries of both vascular and neuronal structures. The most frequent injuries associated with SBS include encephalopathy, retinal hemorrhages, and subdural hemorrhage. Fractures of the vertebrae, long bones, and ribs may also be associated with the syndrome. Victims of abuse have various presenting signs and symptoms ranging from irritability, decreased responsiveness and lethargy to convulsions, and death. Diagnosis is often difficult because usually parents or caregivers not tell the truth about what has happened to their child and because usually there is no external evidence of trauma. However, the syndrome might be suspected if the information provided are vague or changing and when the child presents with retinal hemorrhages, subdural hematoma, or fractures that cannot be explained by accidental trauma or other medical conditions. Of infants who are victims of SBS, approximately 15% to 38% die and 30% are at risk of long-term neurologic sequelae, including cognitive and behavioural disturbances, motor and visual deficits, learning deficits and epilepsy. Parents and caregivers must be warned about the dangers of shaking infants.

  11. Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome

    Directory of Open Access Journals (Sweden)

    Aldo Schenone Giugni


    Full Text Available Exophthalmos is typically associated with Graves' ophthalmopathy. Although originally described by Harvey Cushing, exophthalmos is an underappreciated sign of Cushing's syndrome. We present a case of a 38-year-old female who presented with severe bilateral proptosis and was subsequently diagnosed with Cushings disease. We discuss the possible mechanisms causing exophthalmos in patients with either endogenous or exogenous hypercortisolemia.

  12. Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities

    Directory of Open Access Journals (Sweden)

    Hassan Hashemi


    Full Text Available The hyperimmunoglobulin E syndromes (HIESs are very rare immunodeficiency syndromes with multisystem involvement, including immune system, skeleton, connective tissue, and dentition. HIES are characterized by the classic triad of high serum levels of immunoglobulin E (IgE, recurrent staphylococcal cold skin abscess, and recurrent pneumonia with pneumatocele formation. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. A fundamental immunologic defect in HIES is not clearly elucidated but abnormal neutrophil chemotaxis due to decreased production or secretion of interferon γ has main role in the immunopathogenesis of syndrome, also distorted Th1/Th2 cytokine profile toward a Th2 bias contributes to the impaired cellular immunity and a specific pattern of infection susceptibility as well as atopic-allergic constitution of syndrome. The ophthalmic manifestations of this disorder include conjunctivitis, keratitis, spontaneous corneal perforation, recurrent giant chalazia, extensive xanthelasma, tumors of the eyelid, strabismus, and bilateral keratoconus. The diagnosis of HIES is inconclusive, dependent on the evolution of a constellation of complex multisystemic symptoms and signs which develop over the years. Until time, no treatment modality is curative for basic defect in HIES, in terms of cytokines/chemokines derangement. Of note, bone marrow transplant and a monoclonal anti-IgE (omalizumab are hoped to be successful treatment in future.

  13. Clinical, paraclinical and serological findings in Susac syndrome

    DEFF Research Database (Denmark)

    Jarius, Sven; Kleffner, Ilka; Dörr, Jan M


    BACKGROUND: Susac syndrome (SuS) is a rare disorder thought to be caused by autoimmune-mediated occlusions of microvessels in the brain, retina and inner ear leading to central nervous system (CNS) dysfunction, visual disturbances due to branch retinal artery occlusions (BRAO), and hearing defici...

  14. The patterns of clinical presentations of cerebellar syndromes ...

    African Journals Online (AJOL)

    Gait-ataxia was the most common sign (83%). Cerebrovascular disease was the most common aetiology (25%). Conclusion: Cerebellar syndromes are not rare in Sudan. However, they were diagnosed more commonly at the central regions of the country probably because of more awareness of patients and better facilities

  15. Frey's syndrome - unusually long delayed clinical onset post ...

    African Journals Online (AJOL)



    Apr 7, 2010 ... In this regard, e-polytetraflouroethylene (PTFE) implants represent the ideal solution because of their good biocompatibility, low tissue reactivity and their lack of resorption. The incidence of Frey's syndrome is also related to skin flap thickness in parotidectomy, with thin flaps developing significant ...

  16. Clinical care of adult Turner syndrome--new aspects

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta Eilersen


    Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once...

  17. Propofol Infusion Syndrome in Adults: A Clinical Update

    Directory of Open Access Journals (Sweden)

    Aibek E. Mirrakhimov


    Full Text Available Propofol infusion syndrome is a rare but extremely dangerous complication of propofol administration. Certain risk factors for the development of propofol infusion syndrome are described, such as appropriate propofol doses and durations of administration, carbohydrate depletion, severe illness, and concomitant administration of catecholamines and glucocorticosteroids. The pathophysiology of this condition includes impairment of mitochondrial beta-oxidation of fatty acids, disruption of the electron transport chain, and blockage of beta-adrenoreceptors and cardiac calcium channels. The disease commonly presents as an otherwise unexplained high anion gap metabolic acidosis, rhabdomyolysis, hyperkalemia, acute kidney injury, elevated liver enzymes, and cardiac dysfunction. Management of overt propofol infusion syndrome requires immediate discontinuation of propofol infusion and supportive management, including hemodialysis, hemodynamic support, and extracorporeal membrane oxygenation in refractory cases. However, we must emphasize that given the high mortality of propofol infusion syndrome, the best management is prevention. Clinicians should consider alternative sedative regimes to prolonged propofol infusions and remain within recommended maximal dose limits.

  18. Nociceptin/orphanin FQ peptide receptors: pharmacology and clinical implications. (United States)

    Chiou, L-C; Liao, Y-Y; Fan, P-C; Kuo, P-H; Wang, C-H; Riemer, C; Prinssen, E P


    /OFQ have been reported in patients with various pain states, depression and liver diseases. This review summarizes the pharmacological characteristics of, and studies with, the available NOP receptor ligands and their possible clinical implications.

  19. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome. (United States)

    Koczkowska, Magdalena; Wierzba, Jolanta; Śmigiel, Robert; Sąsiadek, Maria; Cabała, Magdalena; Ślężak, Ryszard; Iliszko, Mariola; Kardaś, Iwona; Limon, Janusz; Lipska-Ziętkiewicz, Beata S


    Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11.2 deletion syndrome and negative results of standard cytogenetic diagnostic testing (karyotype and FISH for 22q11.2 locus). Array-CGH analysis revealed no aberrations at chromosomes 22 or 10 allegedly related to the syndrome. Five (12.2 %) patients were found to have other genomic imbalances, namely 17q21.31 microdeletion syndrome (MIM#610443), 1p36 deletion syndrome (MIM#607872), NF1 microduplication syndrome (MIM#613675), chromosome 6pter-p24 deletion syndrome (MIM#612582) and a novel interstitial deletion at 3q26.31 of 0.65 Mb encompassing a dosage-dependent gene NAALADL2. Our study demonstrates that the implementation of array-CGH into the panel of classic diagnostic procedures adds significantly to their efficacy. It allows for detection of constitutional genomic imbalances in 12 % of subjects with negative result of karyotype and FISH targeted for 22q11.2 region. Moreover, if used as first-tier genetic test, the method would provide immediate diagnosis in ∼40 % phenotypic 22q11.2 deletion subjects.

  20. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients

    NARCIS (Netherlands)

    Trier, D.C. van; Vos, A.M. de; Draaijer, R.W.; Burgt, I. van der; Draaisma, J.M.T.; Cruysberg, J.R.M.


    PURPOSE: To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). DESIGN: Prospective cross-sectional clinical and genetic study in a tertiary referral center. PARTICIPANTS: Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically

  1. Review Article: Practical Aspects of Testosterone Deficiency Syndrome in Clinical Urology


    Hisham A. Mosli


    In this review we describe the clinical manifestations associated with testosterone deficiency in aging men, termed the testosterone deficiency syndrome (TDS). Since aging men suffer from multiple urological and andrological symptoms, TDS is an important medical condition to be suspected, recognized, clinically and biochemically diagnosed and therefore effectively and successfully treated.

  2. Location of brain lesions predicts conversion of clinically isolated syndromes to multiple sclerosis

    NARCIS (Netherlands)

    Giorgio, A.; Battaglini, M.; Rocca, M.A.; De Leucio, A.; Absinta, M.; van Schijndel, R.A.; Rovira, A.; Tintore, M.; Chard, D.; Ciccarelli, O.; Enzinger, C.; Gasperini, C.; Frederiksen, J.; Filippi, M.; Barkhof, F.; De Stefano, N.


    Objectives: To assess in a large population of patients with clinically isolated syndrome (CIS) the relevance of brain lesion location and frequency in predicting 1-year conversion to multiple sclerosis (MS). Methods: In thismulticenter, retrospective study, clinical andMRI data at onset and

  3. Effects of early treatment with glatiramer acetate in patients with clinically isolated syndrome

    DEFF Research Database (Denmark)

    Comi, G.; Martinelli, V.; Rodegher, M.


    Background: The placebo-controlled phase of the PreCISe study showed that glatiramer acetate delayed onset of clinically definite multiple sclerosis (CDMS) in patients with clinically isolated syndrome and brain lesions on MRI. Objective: To compare the effects of early versus delayed glatiramer ...

  4. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    Directory of Open Access Journals (Sweden)

    Al-Otaibi Faisal


    Full Text Available Abstract Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management.

  5. Beals syndrome (congenital contractural arachnodactyly in children: Clinical symptoms, diagnosis, treatment, and prevention

    Directory of Open Access Journals (Sweden)

    A. N. Semyachkina


    Full Text Available The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of this disease and Marfan syndrome (FBN1 gene mutation, which is associated with the almost complete identity of two proteins: fibrillin 1 and fibrillin 2.The paper describes a clinical case of a child with Beals syndrome and the typical manifestations of the disease: asthenic constitution, arachnodactyly of the hands and feet, congenital contractures of the large and small joints, chest deformity, kyphoscoliosis, talpes, and crushed ears. The investigators made a differential diagnosis with other connective tissue diseases, such as Marfan syndrome, Stickler syndrome, Ehlers–Danlos syndrome, homocystenuria, and arthrogryposis. DNA diagnosis verified the Beals syndrome in the proband. Exon 28 in the FBN2 gene showed the previously undescribed missense mutation of c.3719G>A, resulting in the amino acid substitution of cysteine for tyrosine (p.Cys1240Tyr in the structure of the protein fibrillin 2. A de novo mutation occurred. There is evidence for its pathogenicity in the development of the clinical symptoms of the disease. The problems of effective medical genetic counseling in this family are discussed. 

  6. Breast cancer risk and clinical implications for germline PTEN mutation carriers. (United States)

    Ngeow, Joanne; Sesock, Kaitlin; Eng, Charis


    PTEN Hamartoma Tumor syndrome (PHTS) encompasses a clinical spectrum of heritable disorders including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and Proteus and Proteus-like syndrome that are associated with germline mutations in the PTEN tumor suppressor gene. Breast cancer risk estimates (67-85 %) for women with germline PTEN mutations are similar to those quoted for patients with germline mutations in the BRCA1/2 genes. With PTEN on several germline gene testing panels, finding PTEN mutations and variants have increased exponentially. PHTS can be differentiated from other hereditary cancer syndromes including Hereditary Breast Ovarian Cancer syndrome, Lynch syndrome, and hamartomatous polyposis syndromes based on personal as well as family history. However, many of the benign features of CS are common in the general population, making the diagnosis of CS challenging. Breast cancer patients with an identified germline PTEN mutation are at increased risk of endometrial, thyroid, renal, and colorectal cancers as well as a second breast cancer. Increased screening for the various component cancers as well as predictive testing in first-degree relatives is recommended. Prophylactic mastectomy may be considered especially if breast tissue is dense or if repeated breast biopsies have been necessary. Management of women with breast cancer suspected of CS who test negative for germline PTEN mutations should be managed as per a mutation carrier if she meets CS diagnostic criteria, and should be offered enrollment in research to identify other predisposition genes.

  7. MR diagnosis and clinical management of whiplash injury syndrome of spinal cord

    International Nuclear Information System (INIS)

    Lin Shixu; Lin Daiying; Wu Xianheng; Zeng Xianting


    Objective: To study the MR manifestations of whiplash injury syndrome of spinal cord. Methods: MR images of 21 cases diagnosed as whiplash injury syndrome were retrospectively studied. Those images included transverse and sagittal views and coronal scan had been performed in some cases. Results: MRI inspection safely and objectively reveals the extent of the spinal injury, and helps the anticipation of the prognosis. Conclusion: MRI is the first choice of the imaging modalities assessing the whiplash injury syndrome of the spinal cord. An early diagnosis is valuable to clinical management and rehabilitation

  8. Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum. (United States)

    Pérez-Andreu, Joaquín; Ray, Victor Glenn; Arribas, José María; Sánchez, Sergio Juan


    Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.

  9. Evaluation of signalment, clinical, and laboratory variables as prognostic indicators in dogs with acute abdominal syndrome


    SIMEONOVA, Galina; DINEV, Dinko; CHAPRAZOV, Tzvetan; ROYDEV, Rumen


    The aim of the study was to identify predictors of mortality and to propose a new severity scoring system in dogs with acute abdominal syndrome. A retrospective study was carried out on 58 dogs presented with acute abdominal syndrome with American Society of Anesthesiologists grades III-IV and treated surgically by exploratory laparotomy. Medical records were reviewed and information regarding dog signalment, history, clinical, and laboratory data; surgical findings; and outcome was collected...

  10. Serologic features of primary Sjögren’s syndrome: clinical and prognostic correlation (United States)

    García-Carrasco, Mario; Mendoza-Pinto, Claudia; Jiménez-Hernández, César; Jiménez-Hernández, Mario; Nava-Zavala, Arnulfo; Riebeling, Carlos


    Sjögren’s syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin’s lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with specific clinical features, and can be used as prognostic markers. PMID:23525186

  11. Clinical variables determining the success of adenotonsillectomy in children with Down syndrome. (United States)

    da Rocha, Maíra; Ferraz, Renata Caroline Mendonça; Guo Chen, Vitor; Antonio Moreira, Gustavo; Raimundo Fujita, Reginaldo


    To evaluate the evolution of polysomnographic parameters of children with Down syndrome and obstructive sleep apnea syndrome submitted to adenotonsillectomy and the interaction of comorbidities on therapeutic outcome. Ninety patients with Down syndrome and habitual snoring were identified between 2005 and 2015 in a Pediatric Otorhinolaryngology Clinic. Parent's complaints were evaluated by the test of equality of two proportions. Wilcoxon test was used to examine pre- and post-operative polysomnographic differences. Mann-Whitney test evaluated the influence of comorbidities. A p syndrome in 29.6% of children with Down syndrome. Nineteen patients (70.4%) remained with obstructive sleep apnea syndrome and 44.4% showed a reduction of at least 50% of obstructive apnea-hypopnea index. Central apnea index post-adenotonsillectomy was worse in patients with heart disease (p = 0.022). Sleep efficiency (p = 0.031), N1 sleep stage (p = 0.001), apnea-hypopnea index (p = 0.023), and central apnea index (p = 0.008) were worse after surgery in patients with hypothyroidism. Patients with severe OSAS showed significant improvement in polysomnographic parameters after surgery. Although adenotonsillectomy improved symptoms and objective sleep data in children with Down syndrome, it was not able to resolve obstructive sleep apnea syndrome in most patients. Congenital heart diseases and hypothyroidism may affect the outcome. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    Directory of Open Access Journals (Sweden)

    Dichter Gabriel S


    Full Text Available Abstract This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders, neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder, and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome. We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

  13. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect? (United States)

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco


    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  14. DMPD: Innate immunity and toll-like receptors: clinical implications of basic scienceresearch. [Dynamic Macrophage Pathway CSML Database

    Lifescience Database Archive (English)

    Full Text Available 15069387 Innate immunity and toll-like receptors: clinical implications of basic science...te immunity and toll-like receptors: clinical implications of basic scienceresearch. PubmedID 15069387 Title... Innate immunity and toll-like receptors: clinical implications of basic sciencer

  15. Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives. (United States)

    Salzano, Andrea; D'Assante, Roberta; Heaney, Liam M; Monaco, Federica; Rengo, Giuseppe; Valente, Pietro; Pasquali, Daniela; Bossone, Eduardo; Gianfrilli, Daniele; Lenzi, Andrea; Cittadini, Antonio; Marra, Alberto M; Napoli, Raffaele


    Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population. We searched PubMed, Web of Science, and Scopus for manuscripts published prior to November 2017 using key words "Klinefelter syndrome" AND "insulin resistance" OR "metabolic syndrome" OR "diabetes mellitus" OR "cardiovascular disease" OR "testosterone". Manuscripts were collated, studied and carried forward for discussion where appropriate. Insulin resistance, metabolic syndrome, and type 2 diabetes are more frequently diagnosed in KS than in the general population; however, the contribution of hypogonadism to metabolic derangement is highly controversial. Whether this dangerous combination of risk factors fully explains the CVD burden of KS patients remains unclear. In addition, testosterone replacement therapy only exerts a marginal action on the CVD system. Since fat accumulation and distribution seem to play a relevant role in triggering metabolic abnormalities, an early diagnosis and a tailored intervention strategy with drugs aimed at targeting excessive visceral fat deposition appear necessary in patients with KS.

  16. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis. (United States)

    Spitzer, A Robert


    Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present can describe the majority of patients, but can be fractionated into individual subgroups for further study. By then separating the anatomy and physiology from the symptoms, an avenue of research becomes available to study the different possible structures that regulate sleep, that may be damaged and cause syndromes of sleep dysfunction. Some of these may produce symptoms that overlap with narcolepsy and some may be distinct. Because the clinical syndrome should be distinguished from anatomy or physiology, I have proposed the term narcoleptiform syndrome for the clinical syndrome. The model also clearly separates etiology from anatomy in a classical neurological manner. This allows etiology, localization and symptoms to be studied separately. It is likely that different etiologies may produce damage in areas that produce similar syndromes. For example, in this model, different causes of damage to the orexin nucleus would result in the same clinical syndrome. This reinforces the concept of studying anatomy, symptoms and etiology separately. By studying the relationship of syndromes or symptoms to anatomic localization and pathophysiology, it should be possible to test novel approaches to treatment based on different underlying structure or function. For example, patients with lesions in the ventrolateral preoptic nucleus or the thalamic intralaminar nuclei may both present with insomnia symptoms but need different treatment; or they might present with symptoms overlapping narcolepsy (a narcoleptiform syndrome) yet need different treatment. In some cases, a single treatment may cross over

  17. Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

    Directory of Open Access Journals (Sweden)

    Vincenzo Salpietro


    Full Text Available Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case-studies and case-series we focused on the pathophysiological and clinical implications of glucocorticoid-related, mineralcorticoid-related, and catecholamine-related paediatric nervous system involvement. Childhood Cushing syndrome can be associated with long-lasting cognitive deficits and abnormal behaviour, even after resolution of the hypercortisolism. Exposure to excessive replacement of exogenous glucocorticoids in the paediatric age group (e.g., during treatments for adrenal insufficiency has been reported with neurological and magnetic resonance imaging (MRI abnormalities (e.g., delayed myelination and brain atrophy due to potential corticosteroid-related myelin damage in the developing brain and the possible impairment of limbic system ontogenesis. Idiopathic intracranial hypertension (IIH, a disorder of unclear pathophysiology characterised by increased cerebrospinal fluid (CSF pressure, has been described in children with hypercortisolism, adrenal insufficiency, and hyperaldosteronism, reflecting the potential underlying involvement of the adrenal-brain axis in the regulation of CSF pressure homeostasis. Arterial hypertension caused by paediatric adenomas or tumours of the adrenal cortex or medulla has been associated with various hypertension-related neurological manifestations. The development and maturation of the central nervous system (CNS through childhood is tightly regulated by intrinsic, paracrine, endocrine, and external modulators, and perturbations in any of these factors, including those related to adrenal hormone imbalance, could result in consequences that affect the structure and function of the paediatric brain. Animal experiments and clinical studies demonstrated that the developing (i.e., paediatric CNS seems to be particularly vulnerable to alterations induced by

  18. Gastrointestinal Motility Disorders and Their Clinical Implications in Cirrhosis

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    Eleni Theocharidou


    Full Text Available Gastrointestinal motility is impaired in a substantial proportion of patients with cirrhosis. Cirrhosis-related autonomic neuropathy, increased nitric oxide production, and gut hormonal changes have been implicated. Oesophageal dysmotility has been associated with increased frequency of abnormal gastro-oesophageal reflux. Impaired gastric emptying and accommodation may result in early satiety and may have an impact on the nutritional status of these patients. Small intestinal dysmotility might be implicated in small intestinal bacterial overgrowth and increased bacterial translocation. The latter has been implicated in the pathophysiology of hepatic encephalopathy and spontaneous bacterial peritonitis. Enhanced colonic motility is usually associated with the use of lactulose. Pharmacological interventions aiming to alter gastrointestinal motility in cirrhosis could potentially have a beneficial effect reducing the risk of hepatic decompensation and improving prognosis.

  19. Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

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    Y-Hassan, Shams, E-mail:


    Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings

  20. Clinical features and outcome of epinephrine-induced takotsubo syndrome: Analysis of 33 published cases

    International Nuclear Information System (INIS)

    Y-Hassan, Shams


    Background: Takotsubo syndrome (TS) may be triggered by innumerable physical stress factors including epinephrine administration. The aim of this study is to report on the clinical features and outcome of epinephrine-induced TS (Epi-TS) in a large cohort of published cases. Methods: A computer assisted search of the electronic data base Pubmed was performed from 1990 to 2014. All cases deemed to have Epi-TS were retrieved and compared to the large recent report by Templin et al. (All-TS). Results: Thirty-three cases of Epi-TS were retrieved from the literature and compared to 1750 cases of All-TS. Chest pain as a presenting symptom occurred in 45% of cases. The Epi-TS patients were on average 20.6 years younger than All-TS patients (p < 0.0001). The women were still predominating in Epi-TS but in a significantly lower percentage compared to ALL-TS (73% in Epi-TS vs 89.8% in All-TS, p = 0.0054). One third of the Epi-TS cases had basal pattern of TS compared to 2.2% of cases reported in All-TS. Epi-TS cases were characterized by high complication rates, which occurred in 57.6%. The most important risk factor for the development of TS complication was the accidental administration (P < 0.001) and the dose of >1 mg epinephrine (p = 0.02). In spite of high complication rates, the recovery was rapid with no in-hospital mortality. Conclusion: Epi-TS is characterized by a dramatic rapid onset of symptoms after epinephrine administration. Almost half of the cases had apical sparing and one third basal pattern of TS. In spite of high complication rates, the prognosis was good with no in-hospital mortality. - Highlights: • Published cases of Epinephrine-induced Takotsubo Syndrome (Epi-TS) are reviewed. • Epi-TS is characterized by a dramatic clinical presentation and high complication rates. • In spite of high complication rates, the prognosis of Epi-TS is good. • Almost half of the cases of Epi-TS had apical sparing pattern of TS. • The implications of the findings

  1. Pearson marrow pancreas syndrome: a molecular study and clinical management. (United States)

    Seneca, S; De Meirleir, L; De Schepper, J; Balduck, N; Jochmans, K; Liebaers, I; Lissens, W


    Human mitochondrial DNA (mt DNA) lesions can cause a heterogeneous group of mitochondrial degenerative disorders. We report on a 5-year-old patient suffering from the full-blown picture of Pearson syndrome. His symptoms started in the first year of life with failure to thrive, followed by chronic diarrhoea and lactic acidosis at 18 months of age. Analysis of mitochondrial DNA revealed large amounts of mt DNA molecules with a 2.7 kb deletion in all tissues examined. The diagnosis of Pearson syndrome was made initially in the absence of haematological disturbances. In the following months neutropenia, sideroblastic anaemia and hypoparathyroidism developed. Daily administration of dichloroacetate (DCA) and bicarbonate controls the lactic acidosis, while episodic treatments with filgastrim (Neupogen) reverse episodes of severe neutropenia. Calcium and vitamin D supplementation compensate for the hypoparathyroidism. Chronic administration of DCA and supportive treatment for a long period help to stabilize patients with multiorgan dysfunction.

  2. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

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    Berrocal, T. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Simon, M.J. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Al-Assir, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Prieto, C. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pastor, I. [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Pablo, L. de [Servicio de Radiologia Pediatrica, Hospital Infantil `La Paz`, Madrid (Spain); Lama, R. [Servicio de Gastroenterologia, Hospital Infantil `La Paz`, Madrid (Spain)


    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ``cup`` deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

  3. Barber-Say syndrome: further delineation of the clinical spectrum

    Directory of Open Access Journals (Sweden)

    Cortés Fanny M.


    Full Text Available We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993 including the same until then undescribed dermatoglyphic pattern.

  4. Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

    International Nuclear Information System (INIS)

    Berrocal, T.; Simon, M.J.; Al-Assir, I.; Prieto, C.; Pastor, I.; Pablo, L. de; Lama, R.


    Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease, which is characterized by metaphyseal chondrodysplasia, neutropenia and exocrine pancreatic insufficiency. It presents with varying extremity shortening, ''cup'' deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature. (orig.)

  5. Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. (United States)

    Zoghbi, Huda Y


    This year marks the 50 th anniversary of the publication of Andreas Rett's report on 22 girls who developed a peculiar and devastating neurological disorder that later came to bear his name. On this occasion, we reflect on the progress that has occurred in understanding Rett Syndrome, development of potential treatments, and the ramifications that Rett research has had on the fields of neurobiology and genetics. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Cracked tooth syndrome--incidence, clinical findings and treatment. (United States)

    Homewood, C I


    Cracked tooth syndrome (CTS) is a common occurrence in modern general practice. This article reviews the forces placed on the human dentition and the effect restorative dentistry has on the strength of tooth structure. The study reports on the incidence of CTS in a general practice, finding a far higher incidence in teeth which have had the marginal ridge restored than those which have not. The various types of treatment modalities advocated and their relative merits are discussed.

  7. Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome. (United States)

    Hasumi, Hisashi; Baba, Masaya; Hasumi, Yukiko; Furuya, Mitsuko; Yao, Masahiro


    Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associated renal tumors, hybrid oncocytic/chromophobe tumors and chromophobe renal cell carcinoma are typically less aggressive, and a therapeutic principle for these tumors is a surgical removal with nephron-sparing. The timing of surgery is the most critical element for postoperative renal function, which is one of the important prognostic factors for Birt-Hogg-Dubé syndrome patients. The folliculin gene (FLCN) that is responsible for Birt-Hogg-Dubé syndrome was isolated as a novel tumor suppressor for kidney cancer. Recent studies using murine models for FLCN, a protein encoded by the FLCN gene, and its two binding partners, folliculin-interacting protein 1 (FNIP1) and folliculin-interacting protein 2 (FNIP2), have uncovered important roles for FLCN, FNIP1 and FNIP2 in cell metabolism, which include AMP-activated protein kinase-mediated energy sensing, Ppargc1a-driven mitochondrial oxidative phosphorylation and mTORC1-dependent cell proliferation. Birt-Hogg-Dubé syndrome is a hereditary hamartoma syndrome, which is triggered by metabolic alterations under a functional loss of FLCN/FNIP1/FNIP2 complex, a critical regulator of kidney cell proliferation rate; a mechanistic insight into the FLCN/FNIP1/FNIP2 pathway could provide us a basis for developing new therapeutics for kidney cancer. © 2015 The Japanese Urological Association.

  8. Taste sensitivity, nutritional status and metabolic syndrome: Implication in weight loss dietary interventions. (United States)

    Bertoli, Simona; Laureati, Monica; Battezzati, Alberto; Bergamaschi, Valentina; Cereda, Emanuele; Spadafranca, Angela; Vignati, Laila; Pagliarini, Ella


    We investigated the relationship between taste sensitivity, nutritional status and metabolic syndrome and possible implications on weight loss dietary program. Sensitivity for bitter, sweet, salty and sour tastes was assessed by the three-Alternative-Forced-Choice method in 41 overweight (OW), 52 obese (OB) patients and 56 normal-weight matched controls. OW and OB were assessed also for body composition (by impedence), resting energy expenditure (by indirect calorimetry) and presence of metabolic syndrome (MetS) and were prescribed a weight loss diet. Compliance to the weight loss dietary program was defined as adherence to control visits and weight loss ≥ 5% in 3 mo. Sex and age-adjusted multiple regression models revealed a significant association between body mass index (BMI) and both sour taste (P nutritional (OW and OB) or metabolic status (MetS+ and MetS-). There is no cause-effect relationship between overweight and metabolic derangements. Taste thresholds assessment is not useful in predicting the outcome of a diet-induced weight loss program.

  9. Long-term clinical course of Glut1 deficiency syndrome. (United States)

    Alter, Aliza S; Engelstad, Kristin; Hinton, Veronica J; Montes, Jacqueline; Pearson, Toni S; Akman, Cigdem I; De Vivo, Darryl C


    Our objective is to characterize the long-term course of Glut1 deficiency syndrome. Longitudinal outcome measures, including Columbia Neurological Scores, neuropsychological tests, and adaptive behavior reports, were collected for 13 participants with Glut1 deficiency syndrome who had been followed for an average of 14.2 (range = 8.9-23.6) years. A parent questionnaire assessed manifestations throughout development. The 6-Minute Walk Test captured gait disturbances and triggered paroxysmal exertional dyskinesia. All longitudinal outcomes remained stable over time. Epilepsy dominated infancy and improved during childhood. Dystonia emerged during childhood or adolescence. Earlier introduction of the ketogenic diet correlated with better long-term outcomes on some measures. Percent-predicted 6-Minute Walk Test distance correlated significantly with Columbia Neurological Scores. We conclude that Glut1 deficiency syndrome is a chronic condition, dominated by epilepsy in infancy and by movement disorders thereafter. Dietary treatment in the first postnatal months may effect improved outcomes, emphasizing the importance of early diagnosis and treatment. © The Author(s) 2014.

  10. Cushing's syndrome: from physiological principles to diagnosis and clinical care (United States)

    Raff, Hershel; Carroll, Ty


    The physiological control of cortisol synthesis in the adrenal cortex involves stimulation of adrenocorticotrophic hormone (ACTH) by hypothalamic corticotrophin-releasing hormone (CRH) and then stimulation of the adrenal by ACTH. The control loop of the hypothalamic–pituitary–adrenal (HPA) axis is closed by negative feedback of cortisol on the hypothalamus and pituitary. Understanding this system is required to master the diagnosis, differential diagnosis and treatment of endogenous hypercortisolism – Cushing's syndrome. Endogenous Cushing's syndrome is caused either by excess ACTH secretion or by autonomous cortisol release from the adrenal cortex. Diagnosis of cortisol excess exploits three physiological principles: failure to achieve the normal nadir in the cortisol diurnal rhythm, loss of sensitivity of ACTH-secreting tumours to cortisol negative feedback, and increased excretion of free cortisol in the urine. Differentiating a pituitary source of excess ACTH (Cushing's disease) from an ectopic source is accomplished by imaging the pituitary and sampling for ACTH in the venous drainage of the pituitary. With surgical removal of ACTH or cortisol-secreting tumours, secondary adrenal insufficiency ensues because of the prior suppression of the HPA axis by glucocorticoid negative feedback. Medical therapy is targeted to the anatomical location of the dysregulated component of the HPA axis. Future research will focus on new diagnostics and treatments of Cushing's syndrome. These are elegant examples of translational research: understanding basic physiology informs the development of new approaches to diagnosis and treatment. Appreciating pathophysiology generates new areas for inquiry of basic physiological and biochemical mechanisms. PMID:25480800

  11. A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis (United States)

    Cornish, K; Cross, G; Green, A; Willatt, L; Bradshaw, J


    Cri du chat syndrome is associated with a deletion on the short arm of chromosome 5. The main diagnostic feature is a high pitched, cat-like cry which has recently been localised to 5p15.3 and is separate from the remaining clinical features of the syndrome, which have been localised to 5p15.2. The present study describes a family of four who have a deletion slightly distal (5p15.3) to the critical region. Detailed neuropsychological evaluations indicated a similar pattern of cognitive performance to that reported for subjects with typical CDCS but with only minimal intellectual impairment. In addition, in this family the 5p deletion is transmitted in an autosomal dominant fashion, contrasting with most cases of CDCS, which are either de novo or occur as an unbalanced product of a balanced translocation in a normal parent. This study confirms the importance of differentiating between 5p deletions that coincide with the typical cri du chat phenotype which includes severe to profound learning disability and deletions that only delete the distal critical region that coincides with a milder degree of cognitive impairment and a much improved prognosis.

Keywords: cri du chat syndrome; neuropsychological-genetic profile; 5p15 PMID:10424821

  12. Hormonal and adiposity state of women with polycystic ovary syndrome: implication of adiponectin and leptin

    Directory of Open Access Journals (Sweden)

    Aleksandra Atanasova Boshku


    Full Text Available Obesity and insulin resistance are frequently seen comorbidities in patients with polycystic ovary syndrome (PCOS, affecting the already disturbed metabolism of these patients. Disturbed secretion of adiponectin and leptin could be one of the contributing factors of obesity and insulin resistance in patients with PCOS. The aim of this study was to determine the levels of adiponectin and leptin in PCOS patients, as well as their association with other components of the syndrome. This cross-sectional study determined clinical, hormonal, and biochemical markers in 61 women with PCOS and 56 controls. There was a statistically significant difference in adiponectin and leptin between the groups (p>0.001. There was a significant negative correlation between adiponectin, body mass index (BMI, and waist circumference (r= -0.478; -0.452, p<0.001 and a negative correlation with testosterone, free androgen index (FAI, insulin, and the homeostasis model assessment for insulin resistance (HOMA-IR. A positive correlation between adiponectin, sex hormone binding globulin (SHGB, and fasting glucose levels was present. Correlation analysis of leptin with other metabolic parameters showed a positive correlation with BMI, waist circumference, insulin, and HOMA-IR. A significant inverse correlation was present between leptin and SHGB. In conclusion, adiponectin and leptin may serve as potential biomarkers of insulin resistance. Determining levels of adiponectin and leptin in the early course of this syndrome may enable earlier diagnosis of insulin resistance, or even early prevention in PCOS patients.

  13. Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Gustavo A.Rosa Maciel


    Full Text Available OBJECTIVES: We aimed to investigate whether glucocorticoid receptor gene polymorphisms are associated with clinical and metabolic profiles in patients with polycystic ovary syndrome. Polycystic ovary syndrome is a complex endocrine disease that affects 5-8% of women and may be associated with metabolic syndrome, which is a risk factor for cardiovascular disease. Cortisol action and dysregulation account for metabolic syndrome development in the general population. As glucocorticoid receptor gene (NR3C1 polymorphisms regulate cortisol sensitivity, we hypothesized that variants of this gene may be involved in the adverse metabolic profiles of patients with polycystic ovary syndrome. METHOD: Clinical, metabolic and hormonal profiles were evaluated in 97 patients with polycystic ovary syndrome who were diagnosed according to the Rotterdam criteria. The alleles of the glucocorticoid gene were genotyped. Association analyses were performed using the appropriate statistical tests. RESULTS: Obesity and metabolic syndrome were observed in 42.3% and 26.8% of patients, respectively. Body mass index was positively correlated with blood pressure, triglyceride, LDL-c, total cholesterol, glucose and insulin levels as well as HOMA-IR values and inversely correlated with HDL-c and SHBG levels. The BclI and A3669G variants were found in 24.7% and 13.4% of alleles, respectively. BclI carriers presented a lower frequency of insulin resistance compared with wild-type subjects. CONCLUSION: The BclI variant is associated with a lower frequency of insulin resistance in women with polycystic ovary syndrome. Glucocorticoid gene polymorphism screening during treatment of the syndrome may be useful for identifying subgroups of at-risk patients who would benefit the most from personalized treatment.

  14. Predicting outcome in clinically isolated syndrome using machine learning

    Directory of Open Access Journals (Sweden)

    V. Wottschel


    Machine-learning-based classifications can be used to provide an “individualised” prediction of conversion to MS from subjects' baseline scans and clinical characteristics, with potential to be incorporated into routine clinical practice.

  15. A gene expression signature for RSV: clinical implications and limitations.

    Directory of Open Access Journals (Sweden)

    Peter J M Openshaw


    Full Text Available Peter Openshaw discusses the challenges in advancing respiratory syncytial virus (RSV treatments and the implications of a study by Mejias and colleagues using a newly identified gene signature for diagnosis and prediction of RSV severity. Please see later in the article for the Editors' Summary.

  16. Sexual Objectification of Women: Clinical Implications and Training Considerations (United States)

    Szymanski, Dawn M.; Carr, Erika R.; Moffitt, Lauren B.


    This article focuses on the implications of theory and empirical research on the sexual objectification of women. Drawing largely from the American Psychological Association's 2007 "Guidelines for Psychological Practice With Girls and Women," the 2007 "Report of the American Psychological Association's Task Force on the Sexualization of Girls,"…

  17. Clinical characteristics and outcome of the capsular warning syndrome: a multicenter study. (United States)

    Camps-Renom, Pol; Delgado-Mederos, Raquel; Martínez-Domeño, Alejandro; Prats-Sánchez, Luís; Cortés-Vicente, Elena; Simón-Talero, Manuel; Arboix, Adrià; Ois, Ángel; Purroy, Francisco; Martí-Fàbregas, Joan


    The capsular warning syndrome is defined as recurrent transient lacunar syndromes that usually precede a capsular infarction. Several aspects regarding the clinical management are controversial. We report the clinical and radiological characteristics of a multicenter series of patients with capsular warning syndrome, as well as their functional outcome during the follow-up. We sought to describe the clinico-radiological spectrum of the capsular warning syndrome and to report the functional outcomes and recurrences of these patients during the follow-up. We conducted a multicenter study that collected clinical and radiological data from patients with capsular warning syndrome during 2003-2013. Capsular warning syndrome was defined as the succession of three or more motor or sensory-motor lacunar syndromes within a period of 72 h, with complete recovery between them. We recorded the functional outcome (favorable when Rankin scale score ≤2) and recurrences during follow-up. Our study included 42 patients whose mean age was 66.4 ± 10 years; 71.4% of them were men. The mean number of episodes before a permanent neurological impairment occurred or before a complete recovery of symptoms was 5.1 ± 2.3. Up to 30 patients (71.2%) had an acute infarct visible on the neuroimaging (computed tomography/magnetic resonance imaging). The internal capsule was the most frequent infarct location (50%), but other locations were noted. Twelve patients (28.6%) received thrombolysis in the acute phase. A favorable outcome was observed in 39 patients (92.9%). After a mean follow-up of 35 ± 29 months, only one patient suffered a recurrent ischemic stroke. Capsular warning syndrome preceded an ischemic infarction in 71.2% of patients. In addition to the internal capsule, other locations were noted. The most effective treatment remains unclear. The functional prognosis is favorable in most patients and recurrences are rare. © 2014 World Stroke Organization.

  18. Clinical characteristics of two probable cases of Angelman syndrome in the Hospital Nacional de Ninos

    International Nuclear Information System (INIS)

    Midence-Cerda, Marvin; Brian-Gago, Roberto


    Angelman Syndrome is a severe neurological disorder. No other case has been reported in our country until now. There are two children reported with the clinical suspicion of Angelman Syndrome. They were treated at the Departamento de Neurologia del Hospital Nacional de Ninos. The information was taken from their medical records. The two patients present the four cardinal clinical features, including severe developmental delay, profound speech impairment, ataxia and a happy, sociable disposition. In addition, the patients displayed other characteristics: seizures associated with a typical spike and slow wave activity on EEG an love for water. The clinical diagnosis is difficult because other disorders can mimic the features of Angelman Syndrome. Nonetheless, at an early age, the behavioral phenotype of happy disposition and hyperexcitability is the most important manifestation and appears to be decisive in the differential diagnosis of patients with psychomotor and language delay. (author) [es

  19. T4 syndrome - A distinct theoretical concept or elusive clinical entity? A case report. (United States)

    Hirai, Patricia Miyuki; Thomson, Oliver P


    T4 syndrome has existed as a clinical concept for more than three decades and it has been identified as a source of upper extremity (UE) symptoms. This case report explores the clinical reasoning in the diagnoses and management of a patient with symptoms consistent with T4-type syndrome and critically discusses the concept of T4 syndrome using recent research to help explain the clinical presentation. Manual therapy treatment focused on stimulation of the sympathetic ganglia, decreasing local upper thoracic pain and UE referral pattern noted during passive examination. The successful outcomes included immediate and lasting symptom relief after upper thoracic spinal manipulation. Although treatment has been based on the theory that mechanical thoracic dysfunction can produce sympathetic nervous system (SNS) referred pain, the role the sympathetic reflexes potentially plays on the referral symptoms to the UE presently remains unclear. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital. (United States)

    Shaaya, Elias A; Grocott, Olivia R; Laing, Olivia; Thibert, Ronald L


    Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications. This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. Many of the subjects in this study were on valproic acid therapy prior to their initial evaluation and exhibited increased tremor, decreased balance, and/or regression of motor skills, which resolved after tapering off of this medication. Newer antiepileptic drugs such as levetiracetam, lamotrigine, and clobazam, and to a lesser extent topiramate, appeared to be as effective - if not more so - as valproic acid and clonazepam while offering more favorable side effect profiles. The low glycemic index treatment also provided effective seizure control with minimal side effects. The majority of subjects remained on combination therapy with levetiracetam, lamotrigine, and clobazam being the most commonly used medications, indicating a changing trend when compared with prior studies. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Clinical Significance of Arterial Stiffness and Metabolic Syndrome Scores in Vestibular Neuritis. (United States)

    Chung, Jae Ho; Lee, Seung Hwan; Park, Chul Won; Jeong, Jin Hyeok; Shin, Jeong-Hun


    To investigate the clinical significance of cardiovascular factors, including arterial stiffness and metabolic syndrome scores, in the development of vestibular neuritis. A prospective, case-control study. Tertiary referral center. Fifty-eight adult patients with vestibular neuritis (VN) and 58 age- and sex-matched controls were evaluated between January 2015 and January 2016. Measurement of arterial stiffness. Arterial stiffness was assessed from brachial-ankle pulse wave velocity (baPWV), and cardiovascular markers including blood pressure, body mass index and lipid profiles, and metabolic syndrome scores were determined. The dizziness handicap inventory (DHI) and vestibular function tests, including the caloric test and video head impulse test were evaluated. The correlations between cardiovascular factors and clinical parameters of VN were assessed. Blood pressure, baPWV, and metabolic syndrome scores were higher in the VN group than in the control group (p = 0.002, p = 0.001, and p = 0.001, respectively), whereas comorbidity, anthropometric characteristics, and lipid profiles did not differ significantly. baPWV and metabolic syndrome scores were not correlated with the clinical parameters of the DHI scores, canal paresis, and spontaneous nystagmus duration. In addition, cardiovascular factors did not associate with the vestibular compensation. Higher baPWV, representative of arterial stiffness, and higher metabolic syndrome scores, are associated with the development of VN. This supports the hypothesis of a vascular etiology of the disease. However, cardiovascular risk factors had limited value in predicting the clinical course of VN.

  2. Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome. (United States)

    Freilinger, Michael; Böhm, Michael; Lanator, Ines; Vergesslich-Rothschild, Klara; Huber, Wolf-Dietrich; Anderson, Alison; Wong, Kingsley; Baikie, Gordon; Ravikumara, Madhur; Downs, Jenny; Leonard, Helen


    This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease. The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. The incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic. Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT. © 2014 Mac Keith Press.

  3. Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods

    DEFF Research Database (Denmark)

    Remvig, L; Duhn, Ph; Ullman, S


    The criteria for Ehlers-Danlos syndrome (EDS) and the hypermobility syndrome (HMS) should be reliable. Examination for general joint hypermobility has high reliability but there is only sparse information on the reliability of skin tests, and no information on the level of normal skin extensibility...

  4. Cushing's syndrome: from physiological principles to diagnosis and clinical care. (United States)

    Raff, Hershel; Carroll, Ty


    The physiological control of cortisol synthesis in the adrenal cortex involves stimulation of adrenocorticotrophic hormone (ACTH) by hypothalamic corticotrophin-releasing hormone (CRH) and then stimulation of the adrenal by ACTH. The control loop of the hypothalamic-pituitary-adrenal (HPA) axis is closed by negative feedback of cortisol on the hypothalamus and pituitary. Understanding this system is required to master the diagnosis, differential diagnosis and treatment of endogenous hypercortisolism--Cushing's syndrome. Endogenous Cushing's syndrome is caused either by excess ACTH secretion or by autonomous cortisol release from the adrenal cortex. Diagnosis of cortisol excess exploits three physiological principles: failure to achieve the normal nadir in the cortisol diurnal rhythm, loss of sensitivity of ACTH-secreting tumours to cortisol negative feedback, and increased excretion of free cortisol in the urine. Differentiating a pituitary source of excess ACTH (Cushing's disease) from an ectopic source is accomplished by imaging the pituitary and sampling for ACTH in the venous drainage of the pituitary. With surgical removal of ACTH or cortisol-secreting tumours, secondary adrenal insufficiency ensues because of the prior suppression of the HPA axis by glucocorticoid negative feedback. Medical therapy is targeted to the anatomical location of the dysregulated component of the HPA axis. Future research will focus on new diagnostics and treatments of Cushing's syndrome. These are elegant examples of translational research: understanding basic physiology informs the development of new approaches to diagnosis and treatment. Appreciating pathophysiology generates new areas for inquiry of basic physiological and biochemical mechanisms. © 2014 The Authors. The Journal of Physiology © 2014 The Physiological Society.

  5. Еctopic ACTH syndrome: clinical picture, diagnosis, treatment

    Directory of Open Access Journals (Sweden)

    N S Kuznetsov


    Full Text Available Diagnosis and treatment of ectopic ACTH-syndrome currently is one of the most challenging problems among other forms of endogenous hypercorticism. This syndrome is associated with presence of extrapituitary tumors characterized with different histogenesis and localization, which produce adrenocorticotropic hormone (ACTH, or – rarely – corticotrophin-releasing hormone. In most cases the ectopic synthesis of ACTH is performed in bronchial carcinoid tumors (36–46%, oat cell cancer (18–20%, medullary thyroid cancer (3–7%, pheochromocytoma (9–23%, other sites are infrequent (pancreas, thymus, parotid gland, ovaries, uterus, prostate, colon, stomach, esophagus, etc.. Much of these tumors are aggressive and are characterized with propensity to metastasize and relapse. Currently there are few contradictory data on the comparative evaluation of the effectiveness of methods of topical diagnosis of the source of ectopic ACTH-secretion, and therefore there is an urgent need to develop an optimal and most efficient algorithm for diagnostic procedures to determine the extent of the tumor in patients with ectopic ACTH-syndrome. Indications for surgery, timing and extent of surgical intervention, the effectiveness of the operation, the causes and frequency of relapses are still discussed.The present difficulties of diagnosis, as well as the lack of a unified approach to the treatment of this disease in the complex, often lead to the progression and development of a large number of serious complications functions of up to disability, which in turn does not lead to significant improvement of quality of life. Thus further research is necessary to study of this disease

  6. Leg orientation as a clinical sign for pusher syndrome

    Directory of Open Access Journals (Sweden)

    Johannsen Leif


    Full Text Available Abstract Background Effective control of (upright body posture requires a proper representation of body orientation. Stroke patients with pusher syndrome were shown to suffer from severely disturbed perception of own body orientation. They experience their body as oriented 'upright' when actually tilted by nearly 20° to the ipsilesional side. Thus, it can be expected that postural control mechanisms are impaired accordingly in these patients. Our aim was to investigate pusher patients' spontaneous postural responses of the non-paretic leg and of the head during passive body tilt. Methods A sideways tilting motion was applied to the trunk of the subject in the roll plane. Stroke patients with pusher syndrome were compared to stroke patients not showing pushing behaviour, patients with acute unilateral vestibular loss, and non brain damaged subjects. Results Compared to all groups without pushing behaviour, the non-paretic leg of the pusher patients showed a constant ipsiversive tilt across the whole tilt range for an amount which was observed in the non-pusher subjects when they were tilted for about 15° into the ipsiversive direction. Conclusion The observation that patients with acute unilateral vestibular loss showed no alterations of leg posture indicates that disturbed vestibular afferences alone are not responsible for the disordered leg responses seen in pusher patients. Our results may suggest that in pusher patients a representation of body orientation is disturbed that drives both conscious perception of body orientation and spontaneous postural adjustment of the non-paretic leg in the roll plane. The investigation of the pusher patients' leg-to-trunk orientation thus could serve as an additional bedside tool to detect pusher syndrome in acute stroke patients.

  7. [SIRS (systemic inflammatory response syndrome): clinical entity, definitions, and the significance]. (United States)

    Kushimoto, S; Yamamoto, Y


    The clinical entity, definitions, and the significance of SIRS (systemic inflammatory response syndrome) were reviewed. The term, SIRS was proposed to define sepsis and its sequelae clearly in 1991, in order to make early detection of the disease possible, and to improve the ability to compare innovative potential diagnostic and therapeutic modalities by standardizing terms. Although the criteria of SIRS is not strict and too sensitive, SIRS has been shown to be useful as a warning sign of severe condition in clinical setting. We also discussed about a new concept, CARS (compensatory anti-inflammatory response syndrome), which was characterized as anti-inflammatory mediators-dominant condition, in this issue.

  8. Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications. (United States)

    Weissler, Jason M; Shubinets, Valeriy; Carney, Martin J; Low, David W


    Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal abnormalities (CLOVES) is a complex overgrowth syndrome with dramatic aesthetic and functional implications. The truncal masses characteristic of CLOVES syndrome are described as vascular malformations or lipomatous lesions with variable vascular components. Herein, we describe our single-institution experience with surgical excision of CLOVES-related truncal masses and discuss future directions in treatment of these complex anomalies. A single-institution retrospective review was performed for patients diagnosed with CLOVES syndrome. Patients undergoing excision of truncal vascular malformations were included. Outcome measures included perioperative characteristics [estimated blood loss (EBL), specimen size/anatomic location, blood-product requirement], as well as length-of-stay [LOS], and complication profile. Mean follow-up was 23.4 months (range 4.2-44). Three consecutive patients were reviewed, accounting for 4 surgical operations. One patient underwent two operations for two distinct masses. All lesions were located on the upper back or flank with various degrees of muscular involvement. One patient required no transfusions with an uneventful 2-day hospitalization. The remaining three patients had an EBL ranging from 1500 to 6450 mL, requiring 9-13 units of packed red blood cells and 5-8 units of fresh frozen plasma during LOS (averaging 5 days). Mean weight of resected masses was 6.26 lbs (range 2.04-12 lbs) and mass dimensions ranged between 1778.9 and 15,680 cm 3 . One patient with recurrence was subsequently treated with a combination of sclerotherapy and rapamycin, leading to significant mass reduction. Management of CLOVES syndrome requires a collaborative and multimodal approach. Although surgical debulking is one treatment option, non-invasive medical modalities and sclerotherapy should be considered prior to surgical resection. This journal requires that

  9. Joubert syndrome: large clinical variability and a unique neuroimaging aspect

    Energy Technology Data Exchange (ETDEWEB)

    Leao, Emilia Katiane Embirucu; Lima, Marcilia Martyn; Kok, Fernando; Parizotto, Juliana [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Neurology; Maia Junior, Otacilio de Oliveira [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Ophthalmology


    Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g. pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnoea and hyperpnoea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. (author)

  10. Neuroleptic Malignant Syndrome: A Case Aimed at Raising Clinical Awareness

    Directory of Open Access Journals (Sweden)

    Jad Al Danaf


    Full Text Available A 60-year-old man with a history of bipolar disorder on risperidone, bupropion, and escitalopram was admitted for community acquired streptococcal pneumonia. Four days later, he developed persistent hyperthermia, dysautonomia, rigidity, hyporeflexia, and marked elevation of serum creatine phosphokinase. He was diagnosed with neuroleptic malignant syndrome (NMS and improved with dantrolene, bromocriptine, and supportive therapy. This case emphasizes the importance of considering a broad differential diagnosis for fever in the ICU, carefully reviewing the medication list for all patients, and considering NMS in patients with fever and rigidity.

  11. Clinical manifestations of Ellis-van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Vinay C


    Full Text Available Ellis-van Creveld syndrome (EVC is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and heart defects. It is a rare disease complex and very few cases have been reported in dental literature. This condition is inherited as an autosomal recessive trait with variable expression. The present case report describes EVC in a 7-year-old girl, with all the tetrad of cardinal features. We found a rare dental aberration in form; appearance of single conical roots in primary molars. The management of children with EVC is multidisciplinary, with consideration for the high incidence of cardiac defects in these patients.


    Directory of Open Access Journals (Sweden)

    N. A. Shostak


    Full Text Available Sarcopenia and overlapping syndromes, such as decrepitude and cachexia, are important medical and social problems due to their high prevalence and association with unfavorable outcomes. The article describes some issues of terminology, classification and differentiation of sarcopenia, decrepitude and cachexia, main diagnostic principles as well as different sarcopenia phenotypes (like sarco-osteoporosis sarcopenic and osteosarcopenic obesity. Identification of sarcopenia secondary forms associated with low physical activity, eating disorders or chronic illnesses (including inflammatory ones was an important achievement for better understanding of the disease. Studying of sarcopenia in people with rheumatoid arthritis is a matter of particular interest.

  13. Cri-du-chat syndrome: clinical profile and prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Tullu M


    Full Text Available Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.

  14. Joubert syndrome: large clinical variability and a unique neuroimaging aspect

    International Nuclear Information System (INIS)

    Leao, Emilia Katiane Embirucu; Lima, Marcilia Martyn; Kok, Fernando; Parizotto, Juliana; Maia Junior, Otacilio de Oliveira


    Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g. pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnoea and hyperpnoea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. (author)

  15. Carpal tunnel syndrome: An evaluation clinical and sociodemographic characteristics of 350 patients

    Directory of Open Access Journals (Sweden)

    Nermin Tanık


    Full Text Available Objective: This study aimed to define the sociodemographic and clinical characteristics of patients with carpaltunnel syndrome. Methods: The study comprised 350 patients diagnosed with carpal tunnel syndrome. Exclusion criteria were cervical radiculopathy, brachial plexopathy, thoracic outlet syndrome, polyneuropathy, pregnancy and a history of upper extremity trauma. The sociodemographic characteristics of the patients and the clinical characteristics of the carpal tunnel syndrome were recorded. Results: Of the total 350 patients, 86.2% were female, mean age was 52.5 years, 69.7% were obese, bilateral involvement was determined in 72.9% and the duration of symptoms was 3.0±0.9 years. 98.3% of the patients were married, 79.1% were housewives, 80.6% had a moderate income level, 59.6% were educated to primary school level and the most common ccompanying disease was diabetes at a rate of 26.9%. Conclusion: The study results showed that in Central Anatolia, carpal tunnel syndrome was seen in middleaged, obese, married housewives of moderate income and a low educational level. Generally, there was no accompanying disease, bilateral involvement was high and the disease was determined to have become chronic. With the detailed examination of the ociodemographic data of carpal tunnel syndrome patients, a good definition of a profile specific to this society will contribute to the treatment process.

  16. Clinical characteristics of three patients with UVs syndrome, a photosensitive disorder with defective DNA repair

    International Nuclear Information System (INIS)

    Itoh, T.; Yamaizumi, M.; Hiro-oka, M.; Matsui, T.; Matsuno, M.; Ono, T.; Ichihashi, M.


    Recently, we established a new category of photosensitive disorder termed UVsup(s) syndrome. Cells from patients with UVsup(s) syndrome have a similar UV sensitivity as xeroderma pigmentosum (XP) cells, but have a normal level of unscheduled DNA synthesis (UDS) unlike XP. UVsup(s) syndrome is distinct from Cockayne syndrome (CS) or XP including XP variant (XP-V) as determined by studies of genetic factors using cell fusion, microinjection, and postreplication repair assays. In this study, we identified three japanese patients with UVsup(s) syndrome: an 11-year-old girl, a 17 year old male, and an 8-year-old boy. The first two patients were siblings, while the third was a case from a different family. All of these patients exhibited acute recurrent sunburn. Common clinical manifestations of the patients were slight erythema and dryness, a number of freckles on sun-exposed areas, and slight telangiectasia only seen on the cheek and nose. Patient 3 showed a lowered minimal erythema dose between 280 and 300 nm. The patients' fibroblasts showed similar characteristics to those in CS, such as UV sensitivity, and a failure of RNA synthesis (RRS) after UV irradiation, despite a normal level of UDS. Thus, UVsup(s) syndrome is a new hereditary photosensitive disorder with clinical manifestations similar to a mild form of Xp but showing the cellular characteristics of CS. (Author)

  17. Hemizygosity at the elastin locus and clinical features of Williams syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Morimoto, Y; Kuwano, A. [Ehime Univ. School of Medicine (Japan); Kuwajima, K. [Ibaraki Perfectural Handicap Children`s Hopsital (Japan)] [and others


    Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient with distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.

  18. Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome

    International Nuclear Information System (INIS)

    Wu, Hong; Zeng, Hong; Lam, Robert; Tempel, Wolfram; Kerr, Iain D.; Min, Jinrong


    The crystal structure of the human MLH1 N-terminus is reported at 2.30 Å resolution. The overall structure is described along with an analysis of two clinically important mutations. Mismatch repair prevents the accumulation of erroneous insertions/deletions and non-Watson–Crick base pairs in the genome. Pathogenic mutations in the MLH1 gene are associated with a predisposition to Lynch and Turcot’s syndromes. Although genetic testing for these mutations is available, robust classification of variants requires strong clinical and functional support. Here, the first structure of the N-terminus of human MLH1, determined by X-ray crystallography, is described. The structure shares a high degree of similarity with previously determined prokaryotic MLH1 homologs; however, this structure affords a more accurate platform for the classification of MLH1 variants

  19. Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Hong; Zeng, Hong; Lam, Robert; Tempel, Wolfram [University of Toronto, 101 College Street, Toronto, ON M5G 1L7 (Canada); Kerr, Iain D., E-mail: [Myriad Genetic Laboratories Inc., 320 Wakara Way, Salt Lake City, UT 84108 (United States); Min, Jinrong, E-mail: [University of Toronto, 101 College Street, Toronto, ON M5G 1L7 (Canada); University of Toronto, Toronto, ON M5G 1L7 (Canada)


    The crystal structure of the human MLH1 N-terminus is reported at 2.30 Å resolution. The overall structure is described along with an analysis of two clinically important mutations. Mismatch repair prevents the accumulation of erroneous insertions/deletions and non-Watson–Crick base pairs in the genome. Pathogenic mutations in the MLH1 gene are associated with a predisposition to Lynch and Turcot’s syndromes. Although genetic testing for these mutations is available, robust classification of variants requires strong clinical and functional support. Here, the first structure of the N-terminus of human MLH1, determined by X-ray crystallography, is described. The structure shares a high degree of similarity with previously determined prokaryotic MLH1 homologs; however, this structure affords a more accurate platform for the classification of MLH1 variants.

  20. Clinical Study on 1 Case of Klippel-Trenaunay-Weber Syndrome

    Directory of Open Access Journals (Sweden)

    Chang-Kil, Yoo


    Full Text Available Objective : This study was performed to evaluate the treatment of Acupuncture therapy including Herbal Acupuncture theraphy and Korean Bee Venom Theraphy in Klippel-Trenaunay-Weber Syndrome. Methods : We treated 1 case of Klippel-Trenaunay-Weber Syndrome patient with mainly Korean Bee Venom Theraphy, and herbal Acupuncture, acupuncture theraphy from 27th August, 2001 to February, 2003. Results : After 3 weeks of Korean Bee Venom Theraphy, and herbal Acupuncture, acupuncture theraphy, a remarkable improvement was made for Klippel-Trenaunay-Weber Syndrome. Conclusions : Korean Bee Venom Theraphy and other acupuncture therapies were effective in reducing the symptoms. We think that it need the further study and clinical trial for Klippel-Trenaunay-Weber Syndrome.

  1. Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

    Directory of Open Access Journals (Sweden)

    Kabra Madhulika


    Full Text Available Abstract Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.

  2. Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases. (United States)

    Halder, Ashutosh; Jain, Manish; Kabra, Madhulika; Gupta, Neerja


    Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.

  3. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study. (United States)

    d'Annunzio, Giuseppe; Minuto, Nicola; D'Amato, Elena; de Toni, Teresa; Lombardo, Fortunato; Pasquali, Lorenzo; Lorini, Renata


    Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier frequency. We evaluated six Italian children from five unrelated families. Genetic analysis for Wolfram syndrome was performed by PCR amplification and direct sequencing. Mutation screening revealed five distinct variants, one novel mutation (c.1346C>T; p.T449I) and four previously described, all located in exon 8. Phenotype-genotype correlation is difficult, and the same mutation gives very different phenotypes. Severely inactivating mutations result in a more severe phenotype than mildly inactivating ones. Clinical follow-up showed the progressive syndrome's seriousness.

  4. Clinical and ultrasound features in patients with intersection syndrome or de Quervain's disease. (United States)

    Sato, J; Ishii, Y; Noguchi, H


    We investigated the demographic characteristics of patients who were diagnosed with intersection syndrome and also investigated the dominance of the affected hand, duration of symptoms and any precipitating factor for pain of the wrist. These features were compared with patients who had de Quervain's disease. Ultrasonography was used to confirm the clinical diagnosis. Intersection syndrome occurred more frequently in men and in the dominant hand than de Quervain's disease when all the patients were compared and when peripartum women were excluded. It occurred at a younger age than de Quervain's disease only when the comparison excluded peripartum women. Patients with intersection syndrome presented with a much shorter duration of symptoms. These results were consistent with previous reports about occupational factors in intersection syndrome, and might be helpful in the understanding of epidemiological difference between the two conditions. Level 3. © The Author(s) 2015.

  5. Clinically isolated syndrome manifested as acute vestibular syndrome: bedside neuro-otological examination and suppression of transient evoked otoacoustic emissions in the differential diagnosis. (United States)

    Veros, Konstantinos; Blioskas, Sarantis; Karapanayiotides, Theodoros; Psillas, Georgios; Markou, Konstantinos; Tsaligopoulos, Miltiadis


    A case of a 34-year old woman with acute vestibular syndrome caused by a demyelinating lesion in the root entry zone of the 8th cranial nerve is presented. Neuro-otological bedside examination and suppression of transient evoked otoacoustic emissions provided objective clinical evidence of a retrolabyrinthine lesion. Magnetic resonance imaging and the presence of oligoclonal IgG bands in cerebrospinal fluid analysis established the diagnosis of clinically isolated syndrome. This case report highlights the clinical information provided by the neuro-otologist in the differential diagnosis of the acute vestibular syndrome and the diagnosis of possible multiple sclerosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Clinical management of behavioral characteristics of Prader–Willi syndrome

    Directory of Open Access Journals (Sweden)

    Alan Y Ho


    Full Text Available Alan Y Ho, Anastasia DimitropoulosDepartment of Psychology, Case Western Reserve University, Cleveland, OH, USAAbstract: Prader–Willi syndrome (PWS is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11–q13 that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation and exhibit a higher overall behavior disturbance compared to individuals with similar intellectual disability. Due to its multisystem disorder, family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. This article reviews current research on behavior and cognition in PWS and discusses management guidelines for this disorder.Keywords: Prader–Willi syndrome; neurodevelopment, hyperphagia, disability

  7. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China. (United States)

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur


    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,Psyndrome patients (Psyndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

  8. Cerebrospinal fluid anti-Epstein-Barr virus specific oligoclonal IgM and IgG bands in patients with clinically isolated and Guillain-Barré syndrome. (United States)

    Ferraro, Diana; Galli, Veronica; Simone, Anna Maria; Bedin, Roberta; Vitetta, Francesca; Merelli, Elisa; Nichelli, Paolo Frigio; Sola, Patrizia


    Epstein-Barr virus (EBV) has been implicated in multiple sclerosis (MS) pathogenesis. We aimed to assess the frequency of EBV-specific IgG and IgM oligoclonal bands (OCB) in cerebrospinal fluid (CSF) of 50 patients with clinically isolated syndrome (CIS) and in 27 controls with Guillain-Barré syndrome (GBS). Furthermore, we assessed correlations between the presence of OCB and CIS patients' CSF, MRI, and clinical variables. There was no difference in the proportion of CIS and GB patients with positivity for anti-EBV-specific IgG/IgM OCB. There were no correlations between OCB and analyzed variables, nor were they predictive of a higher disability at 3 years.

  9. Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. (United States)

    Wong, Meihua; Chu, Ying-Hsia; Tan, Hwei Ling; Bessho, Hideharu; Ngeow, Joanne; Tang, Tiffany; Tan, Min-Han


    Von Hippel-Lindau (VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. In this comprehensive study of East Asian patients, we investigated the genetic and clinical characteristics of patients with VHL syndrome. To create a registry of clinical characteristics and mutations reported in East Asian patients with VHL syndrome, we conducted a comprehensive review of English language and non-English language articles identified through a literature search. Publications in Japanese or Chinese language were read by native speakers of the language, who then performed the data extraction. Of 237 East Asian patients with VHL syndrome, 154 unique kindreds were identified for analysis. Analyzed by kindred, missense mutations were the most common (40.9%, 63/154), followed by large/complete deletions (32.5%, 50/154) and nonsense mutations (11.7%, 18/154). Compared with a previously reported study of both East Asian and non-East Asian patients, we found several key differences. First, missense and frameshift mutations in the VHL gene occurred less commonly in our population of East Asian patients (40.9% vs. 52.0%; P = 0.012 and 8.4% vs. 13.0%; P syndrome, the incidence of retinal capillary hemangioblastoma was lower, whereas the incidence of renal cell carcinoma was higher. Evidence suggests that the genotypic and phenotypic characteristics of East Asian patients with VHL syndrome differ from other populations. This should be considered when making screening recommendations for VHL syndrome in Asia.

  10. SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. (United States)

    Shima, Hirohito; Ishii, Akira; Wada, Yasunori; Kizawa, Junya; Yokoi, Tadashi; Azuma, Noriyuki; Matsubara, Yoichi; Suzuki, Erina; Nakamura, Akie; Narumi, Satoshi; Fukami, Maki


    Hypogonadotropic hypogonadism (HH) is a genetically heterogeneous condition that occurs either as an isolated disorder or as a component of congenital malformation syndromes. SOX2 is a causative gene of syndromic HH characterized by anophthalmia, microphthalmia, or coloboma and other neurological defects such as epilepsy. To date, the causal relationship between SOX2 abnormalities and non-syndromic HH remains speculative. Here, we identified a nonsense mutation of SOX2 in a male patient clinically diagnosed with non-syndromic HH. The patient had epilepsy but no additional clinical features. Ophthalmological examination revealed no abnormalities except for decreased thickness of the retinal nerve fiber layer. Audiometry showed mild sensorineural hearing impairment of both ears. Hormonal evaluation suggested isolated gonadotropin deficiency. Next-generation sequencing-based mutation screening of 13 major causative genes for HH identified a p.Lys35 ∗ mutation in SOX2 and excluded pathogenic mutations in other tested genes. The p.Lys35 ∗ mutation appeared to encode a non-functioning SOX2 protein that lacks 283 of 317 amino acids. The SOX2 mutation was absent in the maternal DNA sample, while a paternal sample was unavailable for sequence analysis. These results expand the clinical consequences of SOX2 haploinsufficiency to include non-syndromic HH. Systematic mutation screening using a next-generation sequencer and detailed evaluation of nonspecific ocular/neurological features may help identify SOX2 mutation-positive individuals among HH patients.

  11. How can clinical ethics guide the management of comorbidities in the child with Rett syndrome? (United States)

    Downs, Jenny; Forbes, David; Johnson, Michael; Leonard, Helen


    Rett syndrome is a rare disorder caused by a mutation in the MECP2 gene. Those affected generally have severe functional impairments, and medical comorbidities such as scoliosis and poor growth are common. There is a paucity of information on the natural history of many rare disorders and an even greater deficit of evidence to guide best practice. The population-based and longitudinal Australian Rett Syndrome Database established in 1993 has supported investigations of the natural history of Rett syndrome and effectiveness of treatments. This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework. Compared with conservative management, we have shown that spinal fusion is associated with reduced mortality and better respiratory health. We have also shown that gastrostomy insertion is associated with subsequent weight gain. Family counselling for both procedures necessarily must include family perspectives and careful clinical attention to their needs and wishes. Vignettes describing family decision-making and experiences are presented to illustrate the principals of beneficence and autonomy in determining the best interests of the child and family. A blend of evidence-based practice with a strong clinical ethics framework has capacity to build existing strengths in families and reduce the negative impacts of disability and in so doing, optimise the health and wellbeing of those with Rett syndrome. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  12. Metabolic syndrome: frequency and gender differences at an out-patient clinic

    International Nuclear Information System (INIS)

    Jahan, F.; Qureshi, R.; Borhany, T.; Hamza, H.B.


    To determine the frequency of metabolic syndrome among patients attending an out-patient clinic of a teaching hospital and to compare the clinical features regarding metabolic syndrome among males and females. All adults, above 25 years, attending the clinics for an executive check-up and giving informed consent were included in the study. Data was collected through a structured questionnaire administered to those eligible to participate. Metabolic syndrome was defined according to ATP-III guidelines. There were 250 participants in this study. Mean age of study participants was 48.94 (SD10.62) years, while approximately two-thirds, 157 (62.8%), were male. Metabolic syndrome (those who had 3 or more risk factors) was present in 35.2% of adults. Fasting blood sugar level was raised in 36.4% of study participants while significant number of participants (78.8%) had a Body Mass Index (BMI) Z 25 (p = 0.02). Frequency of metabolic syndrome was significantly high in this study with preponderance of males and prevalence similar to that observed in developed countries. Majority of patients had obesity and high fasting blood sugar levels. Males demonstrated higher levels of triglycerides and low levels of High-density lipoprotein (HDL) compared to females while blood pressure reading was observed to be the same in both males and females. (author)

  13. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

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    Guimaraes, Carolina V.A. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Donnelly, Lane F. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Shott, Sally R. [Medical Center, Division of Otolaryngology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Amin, Raouf S.; Kalra, Maninder [Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States)


    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm{sup 2}) than in the control patients (2,767 mm{sup 2}; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  14. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    International Nuclear Information System (INIS)

    Guimaraes, Carolina V.A.; Donnelly, Lane F.; Shott, Sally R.; Amin, Raouf S.; Kalra, Maninder


    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm 2 ) than in the control patients (2,767 mm 2 ; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  15. Clinical practice models in nursing education: implication for students' mobility. (United States)

    Dobrowolska, B; McGonagle, I; Jackson, C; Kane, R; Cabrera, E; Cooney-Miner, D; Di Cara, V; Pajnkihar, M; Prlić, N; Sigurdardottir, A K; Kekuš, D; Wells, J; Palese, A


    In accordance with the process of nursing globalization, issues related to the increasing national and international mobility of student and qualified nurses are currently being debated. Identifying international differences and comparing similarities for mutual understanding, development and better harmonization of clinical training of undergraduate nursing students is recommended. The aim of the study was to describe and compare the nature of the nursing clinical practice education models adopted in different countries. A qualitative approach involving an expert panel of nurses was adopted. The Nominal Group Technique was employed to develop the initial research instrument for data collection. Eleven members of the UDINE-C network, representing institutions engaged in the process of professional nursing education and research (universities, high schools and clinical institutes), participated. Three data collection rounds were implemented. An analysis of the findings was performed, assuring rigour. Differences and homogeneity are reported and discussed regarding: (a) the clinical learning requirements across countries; (b) the prerequisites and clinical learning process patterns; and (c) the progress and final evaluation of the competencies achieved. A wider discussion is needed regarding nursing student exchange and internalization of clinical education in placements across European and non-European countries. A clear strategy for nursing education accreditation and harmonization of patterns of organization of clinical training at placements, as well as strategies of student assessment during this training, are recommended. There is also a need to develop international ethical guidelines for undergraduate nursing students gaining international experience. © 2015 International Council of Nurses.

  16. Evolution of genomic imprinting with biparental care: implications for Prader-Willi and Angelman syndromes.

    Directory of Open Access Journals (Sweden)

    Francisco Ubeda


    Full Text Available The term "imprinted gene" refers to genes whose expression is conditioned by their parental origin. Among theories to unravel the evolution of genomic imprinting, the kinship theory prevails as the most widely accepted, because it sheds light on many aspects of the biology of imprinted genes. While most assumptions underlying this theory have not escaped scrutiny, one remains overlooked: mothers are the only source of parental investment in mammals. But, is it reasonable to assume that fathers' contribution of resources is negligible? It is not in some key mammalian orders including humans. In this research, I generalize the kinship theory of genomic imprinting beyond maternal contribution only. In addition to deriving new conditions for the evolution of imprinting, I have found that the same gene may show the opposite pattern of expression when the investment of one parent relative to the investment of the other changes; the reversion, interestingly, does not require that fathers contribute more resources than mothers. This exciting outcome underscores the intimate connection between the kinship theory and the social structure of the organism considered. Finally, the insight gained from my model enabled me to explain the clinical phenotype of Prader-Willi syndrome. This syndrome is caused by the paternal inheritance of a deletion of the PWS/AS cluster of imprinted genes in human Chromosome 15. As such, children suffering from this syndrome exhibit a striking biphasic phenotype characterized by poor sucking and reduced weight before weaning but by voracious appetite and obesity after weaning. Interest in providing an evolutionary explanation to such phenotype is 2-fold. On the one hand, the kinship theory has been doubted as being able to explain the symptoms of patients with Prader-Willi. On the other hand, the post-weaning symptoms remain as one of the primary concern of pediatricians treating children with Prader-Willi. In this research, I

  17. Syndrome of rapid onset end stage renal disease in incident Mayo Clinic chronic hemodialysis patient

    Directory of Open Access Journals (Sweden)

    M. A. C. Onuigbo


    Full Text Available Despite decades of research, a full understanding of chronic kidney disease (CKD-end stage renal disease (ESRD progression remains elusive. The common consensus is a predictable, linear, progressive and time-dependent decline of CKD to ESRD. Acute kidney injury (AKI on CKD is usually assumed to be transient, with recovery as the expected outcome. AKI-ESRD association in current nephrology literature is blamed on the so-called "residual confounding." We had previously described a relationship between AKI events and rapid onset yet irreversible ESRD happening in a continuum in a high-risk CKD cohort. However, the contribution of the syndrome of rapid onset-ESRD (SORO-ESRD to incident United States ESRD population remained conjectural. In this retrospective analysis, we analyzed serum creatinine trajectories of the last 100 consecutive ESRD patients in 4 Mayo Clinic chronic hemodialysis units to determine the incidence of SORO-ESRD. Excluding 9 patients, 31 (34% patients, including two renal transplant recipients, had SORO-ESRD: 18 males and 13 females age 72 (range 50-92 years. Precipitating AKI followed pneumonia (8, acutely decompensated heart failure (7, pyelonephritis (4, post-operative (5, sepsis (3, contrast-induced nephropathy (2, and others (2. Time to dialysis was shortest following surgical procedures. Concurrent renin angiotensin aldosterone system blockade was higher with SORO-ESRD - 23% versus 5%, P = 0.0113. In conclusion, SORO-ESRD is not uncommon among the incident general US ESRD population. The implications for ESRD care planning, AV-fistula-first programs, general CKD care and any associations with renal ageing/senescence warrant further study.

  18. [Professor ZHENG Kuishan's experience in the clinical treatment of bi syndrome with acupuncture and moxibustion]. (United States)

    Liu, Baohu; Zheng, Jiatai; Guo, Yongming


    Professor ZHENG Kuishan has been engaged in the education and clinical practice of acupuncture and moxibustion for over 60 years. Professor ZHENG is strict in scholarly research and exquisite in medical techniques and he is good at treatment of bi syndrome induced by invasion of wind, cold and damp with warming and, promoting therapy. He emphasizes on syndrome differentiation and acupoint combination and selects the accurate manipulations. Not only are the symptoms relieved apparently, but also the body state is improved. As a result, the primary and secondary are treated simultaneously. In the paper, professor ZHENG's experience is introduced in the treatment of bi syndrome in the aspects of theory, method, formula, acupoint and technique. And his clinical therapeutic approaches have been deeply analyzed.

  19. The clinical value of pulmonary perfusion imaging complicated with pulmonary embolism in children of nephrotic syndrome

    International Nuclear Information System (INIS)

    Lin Jun; Chen Ning; Miao Weibing; Peng Jiequan; Jiang Zhihong; Wu Jing


    To investigate the clinical features of complicated with pulmonary embolism nephrotic syndrome in children. 99m Tc-MAA pulmonary perfusion imaging was performed on 30 nephrotic syndrome in children with elevated plasma D-dimer. Results shown that 14 of 30 patients were found to have pulmonary embolism (46.7%). Pulmonary perfusion imaging showed an involvement of 1 pulmonary segment in 3 cases, 2 segments in 2 cases and over 3 segments in other 9 cases. Among them, there were 7 segments involved in one case. After two weeks of heparin anti-coagulative therapy, most cases showed a recovery. The result of this study suggested that pulmonary embolism is a common complication of nephrotic syndrome. Pulmonary perfusion imaging is simple, effective and accurate method for the diagnosis of pulmonary embolism, and it also can help to assess the value of clinical therapy

  20. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. (United States)

    Mai, Phuong L; Malkin, David; Garber, Judy E; Schiffman, Joshua D; Weitzel, Jeffrey N; Strong, Louise C; Wyss, Oliver; Locke, Luana; Means, Von; Achatz, Maria Isabel; Hainaut, Pierre; Frebourg, Thierry; Evans, D Gareth; Bleiker, Eveline; Patenaude, Andrea; Schneider, Katherine; Wilfond, Benjamin; Peters, June A; Hwang, Paul M; Ford, James; Tabori, Uri; Ognjanovic, Simona; Dennis, Phillip A; Wentzensen, Ingrid M; Greene, Mark H; Fraumeni, Joseph F; Savage, Sharon A


    Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium. Published by Elsevier Inc.

  1. Clinical and radiological findings in a case of non-syndromic oligodontia

    International Nuclear Information System (INIS)

    Jimenez Carrillo, Francisco J.


    A case of congenital absence of eleven dental pieces without association to syndromes is presented. An integral clinical examination of the patient's dental pieces has determined a case of oligodontia. Congenital absence of all permanent teeth described in the clinical examination are presented by orthopantomography radiography. Impressions with irreversible hydrocolloid are realized to complete the diagnostic. The case described of oligodontia has developed without presenting relation to some syndrome as Down syndrome or ectodermal dysplasia. Genes have played a very important role in the etiology of dental anomalies, according to the existing evidence. Mutation has been identified as the cause of dental defects in some of the genes in humans. The maxillary teeth developed in the marginal areas of the dental lamina have pretended to be the dental pieces more susceptible to be without form [es

  2. Overtraining syndrome in the athlete: current clinical practice. (United States)

    Carfagno, David G; Hendrix, Joshua C


    Competitive athletes are pushed routinely to the limits of their physical abilities. When tempered with periods of rest and recovery, a highly demanding training schedule can have tremendous benefits. However when an athlete is pushed too far, overtraining syndrome (OTS) can develop and result in career-ending damage. Overreaching and overtraining are part of the same spectrum that can lead to OTS. The pressure to perform placed on elite athletes is a real danger. Athletes and coaches understand the importance of rest days, but the insidious onset of OTS slowly saps the efficacy of recovery times so the athlete is no longer able to reach previously attainable goals. Identifying markers that correlate with overreaching and overtraining can arrest progression of a potentially negative cycle. We will examine the current literature and discuss possible screening tests and red flags that will assist in preventing OTS from occurring.

  3. Proteus syndrome review: molecular, clinical, and pathologic features. (United States)

    Cohen, M Michael


    Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. MRI criteria for MS in patients with clinically isolated syndromes

    DEFF Research Database (Denmark)

    Montalban, X.; Tintore, M.; Swanton, J.


    In recent years, criteria for the diagnosis of multiple sclerosis (MS) have changed, mainly due to the incorporation of new MRI criteria. While the new criteria are a logical step forward, they are complex and-not surprisingly-a good working knowledge of them is not always evident among neurologi...... false positive diagnoses. New data that are now published were reviewed and discussed and together with a new proposal are integrated in this position paper. Neurology(R) 2010;74:427-434...... isolated syndrome. Within the European multicenter collaborative research network that studies MRI in MS (MAGNIMS), a workshop was held in London in November 2007 to review information that may simplify the existing MS diagnostic criteria, while maintaining a high specificity that is essential to minimize...

  5. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

    Directory of Open Access Journals (Sweden)



    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.


    Directory of Open Access Journals (Sweden)

    Mithula NAIR


    Full Text Available Parry-Romberg syndrome or progressive hemifacial atrophy is a craniofacial disorder characterized by slow and progressive atrophy, generally unilateral, of facial tissues including muscles, bones and skin. The coup de sabre is a clear line of demarcation seen between the normal and abnormal structures. The severity of the facial deformity is dependent on the age of onset of the disease. Cosmetic management is the only available treatment and has to be delayed until facial growth is completed. The present case report deals with a 43-year-old woman with progressive hemifacial atrophy which started from the age of 10 months. Despite almost complete involvement of the right paramedian area and the early age of onset, she had neither eye changes nor any dental malformations.

  7. Fragile X syndrome: A review of clinical management (United States)

    Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J


    Summary The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5′ untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance. PMID:27672537

  8. Remote clinical prognosis in patients with coronary X syndrome

    Directory of Open Access Journals (Sweden)

    Sebov D.M.


    Full Text Available The article analyzes data of 3234 coronary angiographies with established coronary X syndrome (CXS in 217 cases, herewith expressed tortuosity of coronary arteries (ETCA was found out in 148 (more than 2/3 of cases. A 5-years’ analysis of cardio-vascular events (CVE in patients with CXS in comparison with the group of IHD patients and initial atherosclerosis of coronary arteries was made. Absence of reliable difference of developing severe cardio-vascular events (SCVE bet¬ween patients with initial atherosclerosis and CXS was proved. Risk of CVE development was significantey higher in patients with ETCA, OR=4,93; 95% (0,62; 3929. Patients with CXS had higher risk of severe arrhythmias development as compared with IHD patients with initial atherosclerosis: OR=2,36 (1,01; 5,56. There was no reliable difference between lethality of any causes and number of coronary interventions in all groups.

  9. Risk factors for treatment related clinical fluctuations in Guillain-Barré syndrome. Dutch Guillain-Barré study group

    NARCIS (Netherlands)

    L.H. Visser (Leendert); F.G.A. van der Meché (Frans); J. Meulstee (Jan); P.A. van Doorn (Pieter)


    textabstractThe risk factors for treatment related clinical fluctuations, relapses occurring after initial therapeutic induced stabilisation or improvement, were evaluated in a group of 172 patients with Guillain-Barre syndrome. Clinical, laboratory, and electrodiagnostic features

  10. The Effects of Childhood Abuse on Relationship Quality: Gender Differences and Clinical Implications (United States)

    Larsen, Carly D.; Sandberg, Jonathan G.; Harper, James M.; Bean, Roy


    This study examined the relationship between self-reported childhood physical and sexual abuse, romantic relationship quality, possible gender differences, and clinical implications. Three hundred thirty-eight women and 296 men who sought services at a university mental health clinic in the northeast region of the United States completed a…

  11. Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance (United States)

    Bellon-Harn, Monica L.


    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

  12. Complete morphometric analysis of jugular foramen and its clinical implications

    Directory of Open Access Journals (Sweden)

    Sushant Swaroop Das


    Conclusion: This study gives knowledge about the various parameters, anatomical variations of jugular foramen in both sexes of an adult Indian population, and its clinical impact on the surgeries of this region.

  13. Clinical Phenotyping Does Not Differentiate Hunner Lesion Subtype of Interstitial Cystitis/Bladder Pain Syndrome: A Relook at the Role of Cystoscopy. (United States)

    Doiron, R Christopher; Tolls, Victoria; Irvine-Bird, Karen; Kelly, Kerri-Lynn; Nickel, J Curtis


    Identifying Hunner lesions in patients with interstitial cystitis/bladder pain syndrome presents an opportunity for objective classification into Hunner lesion interstitial cystitis/bladder pain syndrome (classic interstitial cystitis) and nonHunner lesion bladder pain syndrome. While currently the former diagnosis requires cystoscopy, limited data suggest that these subtypes can be distinguished without endoscopy based on the degree of bladder focused centricity and the infrequent association with generalized pain conditions. Patients in a prospective, single center database of interstitial cystitis/bladder pain syndrome who had documented cystoscopic findings were categorized with Hunner lesion interstitial cystitis/bladder pain syndrome or nonHunner lesion bladder pain syndrome. Demographics, pain and symptom scores, voiding symptoms, irritable bowel syndrome and clinical UPOINT (urinary, psychosocial, organ specific, infection, neurological and tenderness) scoring were comparatively analyzed. We reviewed the records of 469 patients, including 359 with documented local anesthetic cystoscopic findings, 44 (12.3%) with Hunner lesion interstitial cystitis/bladder pain syndrome and 315 (87.7%) with nonHunner bladder pain syndrome. Patients with Hunner lesions were older (p = 0.004) and had greater urinary frequency (p = 0.013), more nocturia (p = 0.0004) and higher ICSI (Interstitial Cystitis Symptom Index) scores (p = 0.017). Hunner lesion prevalence was significantly lower in those younger than 50 years vs those 50 years old or older (7.8% vs 14.9%, p = 0.0095). There was no difference in the number of UPOINT phenotype domains reported, overall UPOINT scores or the prevalence of irritable bowel syndrome between the groups. A subtype of interstitial cystitis with Hunner lesions has worse bladder centric symptoms but did not show a distinct bladder centric phenotype. Given the management implications of distinguishing classic interstitial cystitis from non

  14. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. (United States)

    Kline, Antonie D; Krantz, Ian D; Deardorff, Matthew A; Shirahige, Katsuhiko; Dorsett, Dale; Gerton, Jennifer L; Wu, Meng; Mehta, Devanshi; Mills, Jason A; Carrico, Cheri S; Noon, Sarah; Herrera, Pamela S; Horsfield, Julia A; Bettale, Chiara; Morgan, Jeremy; Huisman, Sylvia A; Moss, Jo; McCleery, Joseph; Grados, Marco; Hansen, Blake D; Srivastava, Siddharth; Taylor-Snell, Emily; Kerr, Lynne M; Katz, Olivia; Calof, Anne L; Musio, Antonio; Egense, Alena; Haaland, Richard E


    Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22-23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD. © 2017 Wiley Periodicals, Inc.

  15. Myasthenia gravis and pregnancy: clinical implications and neonatal outcome

    Directory of Open Access Journals (Sweden)

    Estanol Bruno


    Full Text Available Abstract Background The myasthenia gravis is twice as common in women as in men and frequently affects young women in the second and third decades of life, overlapping with the childbearing years. Generally, during pregnancy in one third of patients the disease exacerbates, whereas in two thirds it remains clinically unchanged. Complete remission can occur in some patients. Methods To describe the clinical course, delivery and neonatal outcome of 18 pregnant women with the diagnosis of myasthenia gravis. Retrospective chart review of pregnant patients with myasthenia gravis, followed at the National Institute of Perinatology in Mexico City over an 8-year period. Data was abstracted from the medical records on the clinical course during pregnancy, delivery and neonatal outcome. Results From January 1, 1996 to December 31, 2003 18 patients with myasthenia gravis were identified and included in the study. The mean ± SD maternal age was 27.4 ± 4.0 years. During pregnancy 2 women (11% had an improvement in the clinical symptoms of myasthenia gravis, 7 women (39% had clinical worsening of the condition of 9 other patients (50% remained clinically unchanged. Nine patients delivered vaginally, 8 delivered by cesarean section and 1 pregnancy ended in fetal loss. Seventeen infants were born at mean ± SD gestational age of 37.5 ± 3.0 weeks and a mean birth weight of 2710 ± 73 g. Only one infant presented with transient neonatal myasthenia gravis. No congenital anomalies were identified in any of the newborns. Conclusions The clinical course of myasthenia gravis during pregnancy is variable, with a significant proportion of patients experiencing worsening of the clinical symptoms. However, neonatal transient myasthenia was uncommon in our patient population.

  16. The placebo mystique: Implications for clinical trial methodology. (United States)

    Clifford, Vanessa


    The World Medical Association Declaration of Helsinki states that the use of a placebo in a clinical trial can only be justified ethically when no proven active treatment is available as a comparison. Despite this, placebos remain a popular choice as controls in clinical trials. Recent literature reviews have suggested that reliance on placebos may, in part, be because of methodological misconceptions about the need for placebos to control for the 'placebo effect'. This study aimed to assess doctors' understanding of the requirements for placebo use in clinical trials. Two hundred doctors working in tertiary hospitals in Melbourne, Australia were surveyed in regards to their understanding of the role of the placebo and placebo effects in clinical trials. There was a 72% response rate. Doctors were specifically asked if a placebo was required in a randomised clinical trial, in preference to another form of control, to control for the 'placebo effect'. The majority of respondents (62%) incorrectly believed that placebos are essential to control for the 'placebo effect' in a randomised clinical trial. Misconceptions about the methodological requirement for placebos in randomised controlled trials may influence researcher decisions to use placebo controls in unethical situations. © 2011 The Author. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  17. Improving Treatment Trial Outcomes for Rett Syndrome: the development of Rett-specific anchors for the Clinical Global Impression Scale


    Neul, Jeff; Glaze, Daniel; Percy, Alan; Feyma, Tim; Beisang, Arthur; Dinh, Thuy; Suter, Bernhard; Anagnostou, Evdokia; Snape, Mike; Horrigan, Joseph; Jones, Nancy E.


    Rett syndrome is a genetically based neurodevelopmental disorder. While the clinical consequences of Rett syndrome are profound and life-long, currently no approved drug treatments are available specifically targeted to Rett symptoms. High quality outcome measures, specific to the core symptoms of a disorder are a critical component to well-designed clinical trials for individuals with neurodevelopmental disorders. The Clinical Global Impression Scale is a measure of global clinical change wi...

  18. Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases. (United States)

    Young, Walter C.; And Others


    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

  19. [Post-polio syndrome: a review of its clinical characteristics and treatment]. (United States)

    Bouza, C; Amate, J M

    Post-polio syndrome (PPS) is recognised as a clinical syndrome that causes the late, progressive functional impairment suffered by survivors of an acute episode of poliomyelitis. The importance of PPS is acknowledged by increasingly wider sectors of the population and health care sectors; nevertheless, few reports have been published about its epidemiology or its clinical characteristics and treatment. To review the current scientific evidence available on the clinical manifestations, risk factors, prevalence, diagnosis and recommendations for treatment of PPS. We conducted a review of the medical literature in the MEDLINE database. The search was restricted to studies conducted in humans that had been published as complete works in English and/or Spanish up to December 2004. PPS is recognised as being a specific neurological syndrome that appears several decades after the acute episode of polio; it exacerbates the motor sequelae already present in these patients and reduces their functional capacity to a point where it affects their activities of daily living. Its causation has still not been clearly identified and it constitutes a process that is difficult to diagnose and manage. In addition, no specific treatment has been developed for this condition to date. Nevertheless, the psychological and functional impact it has on its victims and the possibility of bringing about a significant improvement in the symptoms call for a greater effort by professionals to identify the clinical needs imposed by the syndrome and to break down some of the health care barriers that currently exist.

  20. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families

    NARCIS (Netherlands)

    Leter, Edward M.; Koopmans, A. Karijn; Gille, Johan J. P.; van Os, Theo A. M.; Vittoz, Gabriëlle G.; David, Eric F. L.; Jaspars, Elisabeth H.; Postmus, Pieter E.; van Moorselaar, R. Jeroen A.; Craanen, Mikael E.; Starink, Theo M.; Menko, Fred H.


    Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis characterized by skin fibrofolliculomas and an increased risk of spontaneous pneumothorax, renal and possibly other tumors. A causative gene (FLCN) on chromosome 17p has recently been identified. We here report clinical and