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Sample records for experience congenital disorders

  1. An Italian Prospective Experience on the Association between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder

    Science.gov (United States)

    Garofoli, Francesca; Lombardi, Giuseppina; Orcesi, Simona; Pisoni, Camilla; Mazzucchelli, Iolanda; Angelini, Micol; Balottin, Umberto; Stronati, Mauro

    2017-01-01

    The aim of this retrospective study, with prospective data collection, was to correlate congenital cytomegalovirus (CMV) infection with autism spectrum disorder (ASD) and to define its prevalence. Seventy proven congenitally-infected infants, born between 2007 and 2012, were referred to our centre for CMV diagnosis and follow-up, which consisted…

  2. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  3. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  4. The congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  5. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium...

  6. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    Science.gov (United States)

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  7. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

    Dikkers, FG; Verheij, JBGM; van Mechelen, M

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral

  8. Imaging findings in congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Ferreira, Rafael Martins; Amaral, Lazaro L F; Gonçalves, Marcus V M; Lin, Katia

    2011-12-01

    In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal connections. The CCDDs include Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, horizontal gaze palsy with progressive scoliosis, the human homeobox-related disorders, pontine cap tegmental dysplasia, and an expanding list. The purpose of this review was to update the imaging features, as well as clinical and genetic information, regarding cases of CCDDs.

  9. Frequency of congenital malformations and chromosomal disorders ...

    Indian Academy of Sciences (India)

    The main congenital disorders observed were: cardiovascular system anomalies, musculoskeletal system, urogenital system, etc. During the investigation period, in the human population of Bacau county, 97 cases of newborns with chromosomal disorders were diagnosed (0.16% of the living newborns), while in Vaslui ...

  10. Mental and behavioural disorders among people with congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2011-01-01

    with congenital deafblindness. Clinical experience is needed, as well as cross-disciplinary cooperation and specialized diagnostic methods together with a observation and intervention period in order to be able to assess and differentiate mental and behavioral symptoms from sensory deprivation in people......The population of people with congenital deafblindness faces challenges concerning communication and mobility. Due to the significance of the sensory loss it is difficult to diagnose mental and behavioral disorders. This article investigates the prevalence of mental and behavioral disorders among...

  11. Congenital Disorders of Glycosylation and Intellectual Disability

    Science.gov (United States)

    Wolfe, Lynne A.; Krasnewich, Donna

    2013-01-01

    The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

  12. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    Full Text Available Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II. In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down’s syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.

  13. Congenital Rubella Syndrome With Autistic Disorder

    Directory of Open Access Journals (Sweden)

    Shyh-Jou Hwang

    2010-02-01

    Full Text Available Congenital rubella syndrome (CRS consists of a group of abnormalities that develop in children as a result of maternal infection with rubella virus. CRS may lead to new physical symptoms during adolescence or adulthood, referred to as “late manifestations”. Psychiatric disorders are often seen among CRS patients, with an incidence of 4.12–7.3% for autism. We report a case of adolescent CRS with autism. A 20-year-old man had received treatment with antipsychotics and antidepressants since the age of 12 years because of unstable moods, violence, and stereotypic behavior. During follow-up, he developed some insidious-onset physical problems, including hyperlipidemia, dyspnea, constipation, torticollis and a tilted trunk. Under careful survey and evaluation, some physical problems were recognized as side effects of psychotropics, which gradually subsided after adjustment of the medications, and some of the problems were considered partially as manifestations of CRS, such as progressive pulmonary artery stenosis-related dyspnea. We managed some of the patient's physical problems and then he received catheterization for pulmonary artery stenosis. His general physical condition improved and some further improvement in psychiatric status was noted thereafter. Because of a high comorbidity rate for patients with autistic disorder, the clinician should be aware of the possibility of CRS if the patient has multiple congenital physical abnormalities with a history of maternal rubella infection. If patients develop physical symptoms in adolescence, awareness of late manifestations of CRS and differentiation from the adverse effects of psychotropic medications are essential. In addition to psychiatric treatment, management of physical problems associated with CRS would be beneficial for the patients' psychiatric condition.

  14. Genetics Home Reference: ALG1-congenital disorder of glycosylation

    Science.gov (United States)

    ... proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by ... congenital disorder of glycosylation type 1K mannosyltransferase 1 deficiency Related Information How are genetic conditions and genes ...

  15. Congenital disorders of glycosylation (CDG): Quo vadis?

    Science.gov (United States)

    Péanne, Romain; de Lonlay, Pascale; Foulquier, François; Kornak, Uwe; Lefeber, Dirk J; Morava, Eva; Pérez, Belén; Seta, Nathalie; Thiel, Christian; Van Schaftingen, Emile; Matthijs, Gert; Jaeken, Jaak

    2017-10-24

    The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG. Epigenetic defects are expected to join the rapidly expanding genetic and allelic heterogeneity of the CDG family. Novel treatments are urgently needed particularly for PMM2-CDG, the most prevalent CDG. Patient services such as apps should be developed e.g. to document the natural history and monitor treatment. Networking (EURO-CDG, the European Reference Networks (MetabERN)) is an efficient tool to disseminate knowledge and boost collaboration at all levels. The final goal is of course to improve the quality of life of the patients and their families. Copyright © 2017. Published by Elsevier Masson SAS.

  16. Preconception health care and congenital disorders: mathematical modelling of the impact of a preconception care programme on congenital disorders.

    Science.gov (United States)

    Shannon, G D; Alberg, C; Nacul, L; Pashayan, N

    2013-04-01

    This study aims to model the impact of preconception care on births with congenital disorders at a national level. Mathematical cross-sectional model based on life-table methodology. Research conducted in Cambridge, United Kingdom. Women aged 15-45 years in England, 2001. A mathematical model was constructed based on cross-sectional data from women aged 15-45 years in England undertaking one of three interventions, so as to reflect different strategies of preconception care: folic acid supplementation and fortification (representing national, universal interventions); alcohol intervention (reflecting primary care strategies); and diabetes management (targeting a population of high-risk women with a known chronic disease). Reduction in the prevalence of congenital disorders at birth. Between 585 (lower estimate) and 1085 (upper estimate) congenital disorders could be prevented with a national preconception programme, based on a single-year national cohort in England. This represents an 8-15% reduction in annual notifications of congenital disorders in live births annually. According to modelled estimates, folic acid fortification or supplementation, alcohol intervention, and diabetic management may result in a 46, 32-62, 53, and 54% reduction in the live birth prevalence of specific congenital disorders, respectively. In an ideal scenario, the application of this model decreases the total annual number of congenital disorder notifications by approximately one-sixth. A preconception care programme comprising three different strategies potentially can reduce the number of infants born with congenital disorders at a national level. This model provides strong support for preconception care to become a healthcare priority, and has major implications for healthcare planning. © 2013 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2013 RCOG.

  17. Preconception healthcare and congenital disorders: systematic review of the effectiveness of preconception care programs in the prevention of congenital disorders.

    Science.gov (United States)

    Shannon, Geordan D; Alberg, Corinna; Nacul, Luis; Pashayan, Nora

    2014-08-01

    Congenital disorders are a leading cause of global burden of disease; the birth prevalence remains constant at 6%. Initiating preconception care before pregnancy may be an effective strategy to reduce congenital disorders and improve the health of reproductive-age women. Our objectives are: (1) To identify components of preconception interventions, (2) to assess the effectiveness of preconception interventions in reducing the burden of congenital disorders, and (3) to prioritize these interventions. Medline and Science Direct search terms included: preconception, pre-pregnancy, childbearing, reproduction, care, intervention, primary care, healthcare, model, program, prevention, trial, efficacy, effectiveness, congenital disorders OR abnormalities. Inclusion criteria were: (1) English, (2) human subjects, (3) women of childbearing age, (4) 1980-current data, (5) all countries, (6) experimental studies, (7) systematic reviews or meta-analysis, (8) program reports/evaluations. Data was collected and abstracted by two independent reviewers. To prioritize preconception interventions likely to have the largest impact at a population level, a ranked scoring system was created incorporating the following: (1) quality of evidence supporting the intervention, (2) effect size of the intervention, and (3) global burden of the specific congenital disease. Preconception interventions include risk screening, education, motivational counseling, disease optimization and specialist referral. The most effective interventions, based on the strength of evidence, size of impact of intervention, and disease burden are: folic acid fortification/supplementation, diabetic control, smoking and alcohol interventions, HIV management, thrombophillia screening, obesity prevention and epilepsy management. Although multiple conditions require preconception attention, only nine interventions have evidence to support their effect on congenital disorders through a randomised control trial, systematic

  18. Perinatal and early infantile symptoms in congenital disorders of glycosylation

    NARCIS (Netherlands)

    Funke, S.; Gardeitchik, T.; Kouwenberg, D.; Mohamed, M.; Wortmann, S.B.; Korsch, E.; Adamowicz, M.; Al-Gazali, L.; Wevers, R.A.; Horvath, A.; Lefeber, D.J.; Morava, E.

    2013-01-01

    Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be

  19. Possible association of congenital Brown syndrome with congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Ellis, Forrest J; Jeffery, Amy R; Seidman, David J; Sprague, James B; Coussens, Tracey; Schuller, Jane

    2012-12-01

    Congenital cranial dysinnervation disorders (CCDDs) are known to arise from abnormal development of individual and multiple cranial nerve nuclei or abnormalities in cranial nerve axonal transport. We report our findings for several patients with Brown syndrome in association with other known abnormalities characteristic of CCDDs. The medical records of patients presenting during a 4-year period with congenital Brown syndrome were retrospectively reviewed. Patients with Brown syndrome confirmed by forced ductions were included in the study if the Brown syndrome was associated with either an abnormal development of the superior oblique muscle or superior oblique paresis, ptosis, Duane syndrome, or other known CCDDs. A total of 9 patients with Brown syndrome were identified. Of these, 3 also demonstrated a contralateral superior oblique palsy; 2, a contralateral Duane syndrome; 1, an ipsilateral congenital ptosis; and 3, a moderate to severely hypoplastic ipsilateral superior oblique muscle. Some patients with congenital Brown syndrome are associated with and possibly in the spectrum of CCDDs. We propose that Brown syndrome may be due to abnormal development of the trochlear nerve, which results in physical changes in the superior oblique muscle-tendon-trochlea complex. This results in a tendon that is either long and lax, absent, or abnormally inserted (ie, superior oblique paresis) or a tendon that is restricted in its movements through the trochlea (Brown syndrome). Copyright © 2012 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  20. Experience with the Management of Congenital Diaphragmatic ...

    African Journals Online (AJOL)

    Survival was 71.4 per cent for the outborn and 40 per cent for the inborn. It is concluded that CDH is a disease with a range of severity. The higher survival rate among the more mature outborns suggest a natural selection of those with minimum respiratory impairment. Keywords: Congenital, Diaphragmatic hernia. Nigerian ...

  1. Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

    Science.gov (United States)

    2017-02-16

    Congenital Fibrosis of Extraocular Muscles; Duane Retraction Syndrome; Duane Radial Ray Syndrome; Mobius Syndrome; Brown Syndrome; Marcus Gunn Syndrome; Strabismus Congenital; Horizontal Gaze Palsy; Horizontal Gaze Palsy With Progressive Scoliosis; Facial Palsy; Facial Paresis, Hereditary, Congenital; Third Nerve Palsy; Fourth Nerve Palsy; Sixth Nerve Palsy; Synkinesis; Ocular Motility Disorders; Levator-Medial Rectus Synkinesis; Athabaskan Brainstem Dysgenesis; Tongue Paralysis; Ninth Nerve Disorder; Fifth Nerve Palsy; Seventh Nerve Palsy; Eleventh Nerve Disorder; Twelfth Nerve Disorder; Vagus Nerve Paralysis; Moebius Sequence

  2. Congenital and acquired mitochondrial disorders of the central nervous system

    Directory of Open Access Journals (Sweden)

    V. V. Nikitina

    2014-01-01

    Full Text Available Clinical presentations of disorders of the nervous system manifest in young and middle-aged patients with congenital and acquired mitochondrial dysfunctions and cognitive disorders manifest in patients with mitochondrial diseases more often. Nowadays the effective methods of initial diagnosing of these conditions are neurological and neuropsychological examination of patients, using of biochemical markers of mitochondrial diseases: the indices of lactate, total homocysteine in plasma and liquor. Neuro-visual study (Magnetic resonance imaging of the brain, MR spectroscopy, tractography, diffusion-weighted magnetic resonance imaging of the brain, mitochondrial DNA typing is actually used for the differential diagnosing of mitochondrial diseases with other disorders that are accompanied by demyelinating disorders.

  3. Nutritional Therapies in Congenital Disorders of Glycosylation (CDG

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    Peter Witters

    2017-11-01

    Full Text Available Congenital disorders of glycosylation (CDG are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of d-galactose in Phosphoglucomutase 1 (PGM1-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies. Current mini review focuses on therapies in glycosylation disorders affecting liver function and dietary intervention in general in N-linked glycosylation disorders. We also emphasize now the importance of early screening for CDG in patients with mild hepatopathy but also in cholestasis.

  4. Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder

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    Archana Kalaichelvam

    2015-10-01

    Full Text Available Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to the hospital with blunt injury to both the eyes. He was posted for right eye enucleation. Main modality of treatment during bleeding episodes is transfusion of fibrinogen. Alternatively, cryoprecipitate can also be used for minor bleeding episodes or to maintain a base line fibrinogen level. Team work involving haematologists, surgeons and anaesthetist is needed for good pre-operative preparation, to form a protocol for intraoperative management and for optimum post-operative care. It is mandatory to arrange blood and blood products even for minor surgeries in view of the possibility of excessive blood loss.

  5. Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

    Science.gov (United States)

    Kim, Jae Hyoung; Hwang, Jeong Min

    2017-06-01

    Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence. © 2017 The Korean Ophthalmological Society.

  6. Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

    Science.gov (United States)

    Kim, Jae Hyoung

    2017-01-01

    Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence. PMID:28534340

  7. The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders

    NARCIS (Netherlands)

    A.W. Overeem (Arend W.); C. Posovszky (Carsten); E. Rings (Edmond); B.N.G. Giepmans (Ben); S.C.D. van IJzendoorn (Sven)

    2016-01-01

    textabstractCongenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but

  8. The liver in congenital disorders of glycosylation: ultrastructural features.

    Science.gov (United States)

    Iancu, Theodore C; Mahajnah, Muhammad; Manov, Irena; Cherurg, Sigal; Knopf, Carlos; Mandel, Hanna

    2007-01-01

    A new group of genetic diseases characterized by defective glycoprotein biosynthesis was recently described. Transferrin isoelectric focusing enabled identification of several types of patients with congenital disorders of glycosylation (CDG). The authors report on the liver involvement in two siblings with CDG type Ix presenting with failure to thrive and hypertransaminasemia who developed cardiomyopathy. In the initially affected infant, liver biopsy at 13 months of age showed increased periportal cellularity, steatosis, and mild fibrosis. Ultrastructurally, the hepatocytes displayed numerous myelinosomes, mostly with a pericanalicular polarization. No myelinosomes were seen in the bile canaliculi, Kupffer cells, and sinusoidal lining cells. Focal large droplet steatosis was also noticed. These ultrastructural findings represent another diagnostic element in this heterogenic group of conditions. Electron microscopy can contribute to the elucidation of hypertransaminasemia and differentiate some types of CDG from other lysosomal diseases.

  9. Experiences Of Mothers Of Children With Congenital Heart Disease

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    Joana Angélica Marques Pinheiro

    2017-04-01

    Full Text Available Introduction: This article discusses the experience of mothers during the process of falling ill of their children with congenital heart disease. Method: This is a descriptive research with qualitative approach conducted with nine mothers who had their babies admitted to a pediatric cardiology unit in a reference center for treatment of congenital heart disease in the North and Northeast regions in Brazil located in Fortaleza, Ceará. Information and reports on the experience of these mothers emerging from the diagnosis process, surgery, treatment and hospitalization were collected in semi-structured individual interviews. After interviews, the testimonies of mothers were transcribed in full-length, identifying the speeches with the codes M1, M2,...M9, thereby ensuring anonymity. We used the thematic analysis technique of Minayo (2012 for treatment of information and design of the content of this article. This article is part of the research project: Breastfeeding babies with heart disease, approved by the Research Ethics Committee of the Messejana Hospital, under Opinion No 1,285,784. Results: The study demonstrated that infants with congenital heart disease require specific and specialized care and that mothers undertake a long and sometimes painful journey in the search for the healing of their child. Conclusion: Based on the collected speeches, we learned that mothers also need to be assisted by professionals of the health team. They must support the mother's empowerment in the child care and strengthen the relationship of the mother-infant binomial, and help in coping and adapting to the reality in the process of falling ill and healing of their child.   Key words: Congenital heart disease. Experience of mothers

  10. Experimental melanoma metastasis in lungs of mice with congenital coagulation disorders

    NARCIS (Netherlands)

    Brüggemann, Lois W.; Versteeg, Henri H.; Niers, Tatjana M.; Reitsma, Pieter H.; Spek, C. Arnold

    2008-01-01

    Experimental animal studies as well as clinical trials have shown that interventions targeting the blood coagulation cascade inhibit cancer cell metastasis. These data support the hypothesis that congenital prothrombotic disorders, like factor V Leiden, facilitate metastasis whereas bleeding

  11. Correlates of posttraumatic stress disorder in adults with congenital heart disease.

    Science.gov (United States)

    Eslami, Bahareh

    2017-05-01

    The aims of this study were to compare the level of posttraumatic stress disorder between adults with and without congenital heart disease, and to examine the correlates of posttraumatic stress disorder (e.g., sociodemographics). Cross-sectional. Two university-affiliated heart hospitals in Tehran, Iran. A sample of 347 adults with congenital heart disease aged 18-64 years (52% women), and 353 adults without congenital heart disease matched by sex and age (±2 years) was recruited. The PTSD Scale: Self-report version was used to assess the diagnosis and severity of posttraumatic stress disorder. Hierarchical multivariate logistic regression analyses were performed to explore correlates of likely posttraumatic stress disorder diagnosis among each group of participants. The posttraumatic stress disorder in the patients was comparable to those of the control group, except for increased arousal (P = .027) which was scored higher among the patients. Over 52% of adults with congenital heart disease met the criteria for a likely posttraumatic stress disorder diagnosis compared with 48% of adults without congenital heart disease. The regression analyses among patients revealed that elevated depressive symptoms (OR = 1.27) and a positive history of cardiac surgery (OR = 2.02) were significantly associated with posttraumatic stress disorder. The model could explain 29% of the variance in posttraumatic stress disorder. The high and comparable prevalence of posttraumatic stress disorder among patients and nonpatients highlight the significance of the context in which adults with congenital heart disease may face other/additional stressors than disease-related ones, an issue that clinicians need also take into account. Furthermore, the association of posttraumatic stress disorder with elevated depressive symptoms warrant a comprehensive psychological assessment and management of adults with congenital heart disease, in particular among those with a history of

  12. Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review.

    Science.gov (United States)

    von Vigier, Rodo O; Ortisi, Maria Teresa; La Manna, Angela; Bianchetti, Mario G; Bettinelli, Alberto

    2010-05-01

    Hypokalemia is a recognized cause of rhabdomyolysis but very few reports document its association with inborn renal tubular disorders. We report our experience with hypokalemic rhabdomyolysis in 5 pediatric patients affected by inborn renal tubular disorders and the results of a careful review of the literature disclosing 9 further cases for a total of 14 patients (8 male and 6 female subjects, aged between 1.6 and 46, median 16 years). The inborn renal tubular disorders underlying rhabdomyolysis were classic distal renal tubular acidosis (n = 7), Gitelman syndrome (n = 5), classic Bartter syndrome (n = 1), and antenatal Bartter syndrome (n = 1). In 8 patients rhabdomyolysis followed an acute intestinal disease, an upper respiratory illness or the discontinuation of regular medication. Five patients experienced two or more episodes of rhabdomyolysis. In 10 patients the underlying renal tubular disorder was recognized concurrently with the episode of rhabdomyolysis or some weeks later. In conclusion some congenital renal tubular disorders predispose to hypokalemic rhabdomyolysis. Prevention of discontinuation of regular medication and electrolyte repair in the context of acute intercurrent illnesses might avoid the development of hypokalemic rhabdomyolysis.

  13. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

    NARCIS (Netherlands)

    Morava, E.; Wosik, H.; Karteszi, J.; Guillard, M.; Adamowicz, M.; Sykut-Cegielska, J.; Hadzsiev, K.; Wevers, R.A.; Lefeber, D.J.

    2008-01-01

    Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically established subtypes (CDG Ia to CDG Im), and a high number of biochemically unresolved cases (CDG Ix). Further diagnostic effort and prognosis counselling are

  14. Congenital versus Regressive Onset of Autism Spectrum Disorders: Parents' Beliefs about Causes

    Science.gov (United States)

    Goin-Kochel, Robin P.; Myers, Barbara J.

    2005-01-01

    Recent studies have validated the phenomenon of autistic regression, but little is known about how regressive and congenital onsets of the disorder influence parents' thinking about autism and its etiology. Parents (N = 327) of children with autism spectrum disorders completed an online questionnaire about their children's development.…

  15. Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience

    OpenAIRE

    Prashant Shah; Kunjang Sherpa; Naveen Kumar Pandey; Bhawani Manandhar; Sahadeb Prasad Dhungana

    2017-01-01

    Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Meth...

  16. Autistic Spectrum Disorder in Two Brothers with Congenital Visual Impairment: A Case Report

    Directory of Open Access Journals (Sweden)

    Hatice Altun

    2013-10-01

    Full Text Available Autistic spectrum disorder is characterized by severe qualitative impairments in socialization, communication, and restricted repetitive behavior, interests and activities. It is a behaviorally defined disorder of unknown etiology that is thought to be influenced by genetic and environmental factors. Congenital visual impairment children are generally reported to be at risk for serious behavioral and psychological problems, such as withdrawal, isolation, and autism. Several studies have described the coexistence of autism or autistic behaviors in visually impaired individuals. To our knowledge, there is no case report about congenital visual impairment and comorbid autistic spectrum disorder in two brothers. In this case report, we aim to emphasise the comorbidity of congenital visual impairment and genetic predisposition which are risk factors for autism separately.

  17. Adult congenital heart disease: experience with the surgical approach

    Directory of Open Access Journals (Sweden)

    Fernando Tadeu Vasconcelos Amaral

    2013-09-01

    Full Text Available OBJECTIVE: To report the institution experience with the surgical treatment of adults with congenital heart disease due to the increasing number of these patients and the need for a better discussion of the subject. METHODS: Retrospective analysis describing demographic data, risk factors and results. RESULTS: 191 patients between 16 and 74 years old were operated on. Primary correction was done in 171 cases, 93 (55% for atrial septal defect repair. Among 20 (12% reoperations, pulmonary valve replacement was done in six cases. The mean intensive care and hospital stay were 2.7 and 8.5 days respectively, significantly greater for the reoperated cases (P=0.001. The mean bypass and clamping times were 68.6 and 44.7 minutes respectively, greater for the reoperated cases (P<0.0001 and P=0.0003 respectively. Hospital mortality was 4.2% and male sex, functional class III-IV and older age at operation were predictive risk factors. Significant complications were more frequent in the reoperated cases (P<0.003, mainly atrial flutter and fibrillation. Among 183 patients discharged, 149 (82% are being followed and atrial flutter and fibrillation are common. The mean functional class value improved significantly after operation (1.66 to 1.11; P<0.0001. The estimated survival was 96.2% in six years. CONCLUSION: Heart surgery in adults with congenital heart disease can be accomplished with low mortality and functional class improvement. Immediate and late complications are frequent. Multicenter studies are important to better characterize this patient population in the country.

  18. Case series of eye disorders associated with congenital eye ...

    African Journals Online (AJOL)

    Background: Congenital diseases are sometimes incompatible with life. Others are, but sometimes at the cost of suffering for the child and family. These abnormalities often have a rich symptomatology and interest several specialties. Ocular signs rarely help in prenatal diagnosis. After birth, the ophthalmologist may ...

  19. Congenital heart disease at Laos Children's Hospital: Two year experience.

    Science.gov (United States)

    Hwang, In-Chang; Sisavanh, Malouny; Billamay, Somxay; Phangmanixay, Sommanikhone; Oudavong, Bounleua; Kang, Jeehoon; Kwon, Bo Sang; Kim, Gi Beom; Bae, Eun Jung; Noh, Chung Il; Choi, Jung Yun

    2017-03-01

    Management of congenital heart disease (CHD) in developing countries is challenging because of limited access to health-care facilities and socioeconomic limitations. The aim of this study was to describe the recent experience with CHD at Children's Hospital, Vientiane, Laos, the only pediatric referral hospital in the country. From July 2013 to November 2015, 1009 echocardiograms were carried out in 797 individuals who visited Children's Hospital, in whom CHD was identified in 213. Demographic characteristics, echocardiography and age at first CHD diagnosis on echocardiogram were compared by residential area. Among the 213 patients, the most frequent anomalies, in descending order, were ventricular septal defect, atrial septal defect, patent ductus arteriosus, and tetralogy of Fallot. Moderate or severe CHD requiring surgery or intervention was detected in 137 patients; median age at initial diagnosis was 6.0 months (IQR, 1.5-29.8). Among those with moderate or severe CHD, 89 patients were from rural areas and 48 from the capital area. The proportion of patients from rural areas older than 1 and 3 years at diagnosis was 46.1% and 32.6%, respectively. In contrast, patients from the capital area were diagnosed at a significantly earlier age: 16.7% at age >1 year and 6.2% at age >3 years (both P Laos, especially in rural areas. Better education and training of local medical staff, and greater access to medical advice are required to improve CHD care in Laos. © 2016 Japan Pediatric Society.

  20. Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

    OpenAIRE

    Vanĕk, J; Janda, J; Amblerová, V; Losan, F

    1986-01-01

    Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.

  1. Congenital eyelid ptosis: onset and prevalence of amblyopia, associations with systemic disorders, and treatment outcomes.

    Science.gov (United States)

    Stein, August; Kelly, John P; Weiss, Avery H

    2014-10-01

    To determine the age at onset of amblyopia, the response to occlusion therapy, and the association with systemic disorders in children with congenital eyelid ptosis. Retrospective chart review of children seen at Seattle Children's Hospital with moderate or severe congenital ptosis. Assessments were longitudinal visual acuity development using objective methods, definition of ptosis severity by eyelid margin to pupillary light reflex distance (margin reflex distance [MRD]), age at amblyopia diagnosis, correlation between amblyopia and MRD, and associated systemic disorders. Eighty-four children with moderate-to-severe congenital ptosis met inclusion criteria; the mean longitudinal follow-up was 49.1 months. Fifteen (18%) of these children had amblyopia, of which 9 had deprivation amblyopia (mean age 17.3 months ± 11.2) and 6 had anisometropic or strabismic amblyopia (mean age 60 months ± 11.8). Eleven (73%) of the children with amblyopia were successfully treated with occlusion therapy. Amblyopia was not correlated with MRD. A systemic disorder was identified in 29 (35%) of the children, the most common being genetic, chromosomal, or neurologic conditions. Patients with systemic disorders and developmental delay have significantly lower visual acuity bilaterally compared with patients without systemic disorders (P ≤ .003). Using longitudinal and objective visual acuity assessments, the incidence of amblyopia was 18% in children with moderate to severe congenital ptosis. Visual deprivation was the predominant risk factor that was reliably distinguished by its earlier onset in young children. The best indicator of amblyopia in children is visual acuity rather than MRD measurements. Systemic disorders are frequent in children with moderate to severe congenital ptosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Sleep-Disordered Breathing in Patients with Pulmonary Valve Incompetence Complicating Congenital Heart Disease.

    Science.gov (United States)

    Miles, Susan; Ahmad, Waheed; Bailey, Amy; Hatton, Rachael; Boyle, Andrew; Collins, Nicholas

    2016-12-01

    Long standing pulmonary regurgitation results in deleterious effects on right heart size and function with late consequences of right heart volume overload including ventricular dilatation, propensity to arrhythmia and right heart failure. As sleep disordered breathing may predispose to elevations in pulmonary vascular resistance and associated negative effects on right ventricular function, we sought to assess this in patients with underlying congenital heart disease. We performed a pilot study to evaluate the incidence of sleep-disordered breathing in a patient population with a history of long standing pulmonary valve incompetence in patients with congenital heart disease using overnight oximetry. Patients with a background of tetralogy of Fallot repair or residual pulmonary incompetence following previous pulmonary valve intervention for congenital pulmonary stenosis were included. Twenty-two patients underwent overnight oximetry. The mean age of the cohort was 34.3 ± 15.2 years with no patients observed to have severe underlying pulmonary hypertension. Abnormal overnight oximetry was seen in 13/22 patients (59.1%) with 2/22 (9.1%) patients considered to have severe abnormalities. An important proportion of patients with a background of pulmonary incompetence complicating congenital heart disease are prone to the development of sleep-disordered breathing as assessed by overnight oximetry. Further study into the prevalence and mechanisms of sleep-disordered breathing in a larger cohort are warranted. © 2016 Wiley Periodicals, Inc.

  3. Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

    NARCIS (Netherlands)

    Morava, E.; Vodopiutz, J.; Lefeber, D.J.; Janecke, A.R.; Schmidt, W.M.; Lechner, S.; Item, C.B.; Sykut-Cegielska, J.; Adamowicz, M.; Wierzba, J.; Zhang, Z.H.; Mihalek, I.; Stockler, S.; Bodamer, O.A.; Lehle, L.; Wevers, R.A.

    2012-01-01

    Deficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted of prenatal growth retardation, pregnancy-induced maternal hypertension and fetal hydrops. Four patients died before 5 years

  4. Bilateral Wyburn-Mason Syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneuos disorder

    DEFF Research Database (Denmark)

    Cortnum, Søren Ole Stigaard; Sørensen, Preben; Andresen, J

    2008-01-01

    . Wyburn-Mason syndrome is a very rare congenital neurocutaneuos disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal area. Subarachnoid haemorrhage associated with Wyburn-Mason syndrome has been described in only 5...

  5. Menstrual cycle and its disorders in women with congenital heart disease.

    NARCIS (Netherlands)

    Drenthen, W.; Hoendermis, E.S.; Moons, P.; Heida, K.Y.; Roos-Hesselink, J.W.; Mulder, B.J.M.; Dijk, A.P.J. van; Vliegen, H.W.; Sollie, K.M.; Berger, R.M.; Lely, A.T.; Canobbio, M.M.; Pieper, P.G.

    2008-01-01

    OBJECTIVES: To investigate the age at menarche, the prevalence of menstrual cycle (interval) disorders, and determinants in women with congenital heart disease (CHD). DESIGN: Using two CHD registries, 1802 (82%) of the 2196 women with CHD contacted (aged 18-58 years) provided written informed

  6. Menstrual cycle and its disorders in women with congenital heart disease

    NARCIS (Netherlands)

    Drenthen, Willem; Hoendermis, Elke S.; Moons, Philip; Heida, Karst Y.; Roos-Hesselink, Jolien W.; Mulder, Barbara J.M.; Van Dijk, Arie P.J.; Vliegen, Hubert W.; Sollie, Krystyna M.; Berger, Rolf M.F.; Lely, A. Titia; Canobbio, Mary M.; Pieper, Petronella G.; Berger, Rudolphus

    2008-01-01

    OBJECTIVES: To investigate the age at menarche, the prevalence of menstrual cycle (interval) disorders, and determinants in women with congenital heart disease (CHD). DESIGN: Using two CHD registries, 1802 (82%) of the 2196 women with CHD contacted (aged 18-58 years) provided written informed

  7. Goldenhar syndrome and other congenital disorders of the ear by HR-PCT

    Energy Technology Data Exchange (ETDEWEB)

    Grobovschek, M.; Oberascher, G.

    1987-09-01

    The use of CT in hospitals in which also ENT departments are located will be useful in cases of osseous congenital disorders of the ear. In combination with the clinical and audiometric investigations CT of the temporal bone will be helpful for the indication of the operations to ameliorate the hearing.

  8. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation

    NARCIS (Netherlands)

    Wolthuis, D.F.; Janssen, M.C; Cassiman, D.; Lefeber, D.J.; Morava-Kozicz, E.

    2014-01-01

    Congenital disorders of N-glycosylation (CDG) form a rapidly growing group of more than 20 inborn errors of metabolism. Most patients are identified at the pediatric age with multisystem disease. There is no systematic review on the long-term outcome and clinical presentation in adult patients.

  9. Fourth cranial nerve palsy and Brown syndrome: two interrelated congenital cranial dysinnervation disorders?

    Science.gov (United States)

    Kaeser, Pierre-François; Brodsky, Michael C

    2013-06-01

    Based on neuroimaging data showing absence of the trochlear nerve, congenital superior oblique palsy is now classified as a congenital cranial dysinnervation disorder. A similar absence of the abducens nerve is accompanied by misinnervation to the lateral rectus muscle from a branch of oculomotor nerve in the Duane retraction syndrome. This similarity raises the question of whether some cases of Brown syndrome could arise from a similar synkinesis between the inferior and superior oblique muscles in the setting of congenital superior oblique palsy. This hypothesis has gained support from the confluence of evidence from a number of independent studies. Using Duane syndrome as a model, we critically review the accumulating evidence that some cases of Brown syndrome are ultimately attributable to dysgenesis of the trochlear nerve.

  10. Leber’s congenital amaurosis and the role of gene therapy in congenital retinal disorders

    Directory of Open Access Journals (Sweden)

    Walid Sharif

    2017-03-01

    Full Text Available Leber’s congenital amaurosis (LCA and recent gene therapy advancement for treating inherited retinopathies were extensive literature reviewed using MEDLINE, PubMed and EMBASE. Adeno-associated viral vectors were the most utilised vectors for ocular gene therapy. Cone photoreceptor cells might use an alternate pathway which was not reliant of the retinal pigment epithelium (RPE derived retinoid isomerohydrolase (RPE65 to access the 11-cis retinal dehydechromophore. Research efforts dedicated on the progression of a gene-based therapy for the treatment of LCA2. Such gene therapy approaches were extremely successful in canine, porcine and rodent LCA2 models. The recombinant AAV2.hRPE65v2 adeno-associated vector contained the RPE65 cDNA and was replication deficient. Its in vitro injection in target cells induced RPE65 protein production. The gene therapy trials that were so far conducted for inherited retinopathies have generated promising results. Phase I clinical trials to cure LCA and choroideremia demonstrated that adeno-associated viral vectors containing RPE genes and photoreceptors respectively, could be successfully administered to inherited retinopathy patients. A phase III trial is presently ongoing and if successful, it will lead the way to additional gene therapy attempts to cure monogenic, inherited retinopathies.

  11. Clinical laboratory assessment of congenital and acquired disorders ...

    African Journals Online (AJOL)

    Platelet function disorders are known to cause abnormality in primary haemostasis and produce signs and symptoms different from coagulation factor deficiencies which on the other hand cause disorders of secondary haemostasis. Under normal circumstances, the resistance of the endothelial cell lining to interactions with ...

  12. Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience

    Directory of Open Access Journals (Sweden)

    Prashant Shah

    2017-01-01

    Full Text Available Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Methods: This is an observational hospital based study carried out in a tertiary care hospital in Eastern Nepal. The duration of this study was from April 2015 to July 2016. The echocardiography reports of all patients clinically suspected of having congenital heart disease were retrieved, and their diagnostic details were extracted. Only patients of day one of life to 14 years of age were included. Congenital heart diseases like bicuspid aortic valve, mitral valve prolapse and various inherited cardiomyopathies were excluded.Results: A total of 330 echocardiograms were performed for clinically suspected congenital heart disease.  The mean age of study population was 22.31±34.08 months with male to female ratio of 1.2:1. 23% of clinically suspected congenital heart disease cases turned out to have normal echocardiography. Acyanotic congenital heart disease was most common (81.5% followed by cyanotic congenital heart disease (14.2% and obstructive congenital heart disease (4.3%. Atrial septal defect was found to be the most common form of acyanotic congenital heart disease (52% which was followed by ventricular septal defect (28.8% and patent ductus arteriosus (14.8%. Tetralogy of Fallot and double outlet right ventricle were the most common form of cyanotic CHD representing 44.4% of all cyanotic patients. Pulmonary stenosis was the most common obstructive congenital heart disease observed in this study population (63.6%. Rarer entities, like d-transposition of great

  13. [Vestibular and oculomotor disorders in patients with congenital strabismus].

    Science.gov (United States)

    Corvera, J; Corvera-Behar, G; Limón, E; Brown-Limón, A

    1994-01-01

    A group of patients with congenital endotropia or exotropia was investigated in their capacity to perform reflex eye movements. Some patients had a successful surgical correction of their eye defect. The functions measured were the vestibulo-oculomotor reflex, the feedback control loop for searching and following eye movements and the optomotor reflex. A loss in the functional capacity was displayed in all the tests done. The average value of the losses found for the whole group, according to the test used, were from 8 to 27% for the vestibulo-oculomotor reflex; 22 to 42% for the eye tracking feedback loop, and 48% for the optomotor reflex. The deficit was not due to the incorrect eye position, because the successfully operated subjects had the same magnitude of the motor defect than the non-operated patients.

  14. Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot – A rare Packaging disorder

    Directory of Open Access Journals (Sweden)

    Mukesh Tiwari

    2013-04-01

    Full Text Available ntroduction: Reduced intrauterine space gives rise to ‘packaging disorder’ which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK, bilateral congenital hip dislocation (CDH and congenital talipes equino varus (CTEVdeformities. Case Report: A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Conclusion: Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good. Keywords: Congenital genu recurvatum, Develpmental dysplasia hip, CTEV, Clubfoot, serial manipulation, packaging disorders

  15. Genetics Home Reference: ALG12-congenital disorder of glycosylation

    Science.gov (United States)

    ... people with ALG12 -CDG include a weakened heart muscle (cardiomyopathy) and poor bone development, which can lead to skeletal abnormalities. Related Information What does it mean if a disorder seems to run in my family? What is ...

  16. Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation

    NARCIS (Netherlands)

    Kouwenberg, D.; Gardeitchik, T.; Mohamed, M.; Lefeber, D.J.; Morava, E.

    2014-01-01

    Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. Proper glycosylation is essential for normal protein structure, function, and trafficking. Mutations in the glycosylation pathway lead to a phenotypically heterogeneous group of metabolic disorders, the congenital

  17. Echocardiography of congenital mitral valve disorders: echocardiographic-morphological comparisons.

    Science.gov (United States)

    Silverman, Norman H

    2014-12-01

    I surveyed our echocardiographic database of the years between 1998 and 2012 for congenital abnormalities of the mitral valve in patients over 14 years. A total of 249 patients with mitral valve abnormalities were identified. Abnormalities included clefts in the mitral valve in 58 patients, double orifice of the mitral valve in 19, mitral stenosis with two papillary muscles in 72, and mitral stenosis with one papillary muscle in 51 patients. Supravalvar rings were found in 35 patients with a single papillary muscle, and mitral stenoses with two papillary muscles were found in 22 patients. Mitral prolapse occurred in 44 patients and mitral valvar straddle in five patients. The patients were evaluated by all modalities of ultrasound available over the course of time. Although some lesions were isolated, there were many lesions in which more than one mitral deformity presented in the same patient. The patients are presented showing anatomical correlation with autopsy specimens, some of which came from the patients in this series, and others matched to show correlative anatomy. These lesions remain rare as a group and continue to have high morbidity and mortality.

  18. Functional vision and cognition in infants with congenital disorders of the peripheral visual system.

    Science.gov (United States)

    Dale, Naomi; Sakkalou, Elena; O'Reilly, Michelle; Springall, Clare; De Haan, Michelle; Salt, Alison

    2017-07-01

    To investigate how vision relates to early development by studying vision and cognition in a national cohort of 1-year-old infants with congenital disorders of the peripheral visual system and visual impairment. This was a cross-sectional observational investigation of a nationally recruited cohort of infants with 'simple' and 'complex' congenital disorders of the peripheral visual system. Entry age was 8 to 16 months. Vision level (Near Detection Scale) and non-verbal cognition (sensorimotor understanding, Reynell Zinkin Scales) were assessed. Parents completed demographic questionnaires. Of 90 infants (49 males, 41 females; mean 13mo, standard deviation [SD] 2.5mo; range 7-17mo); 25 (28%) had profound visual impairment (light perception at best) and 65 (72%) had severe visual impairment (basic 'form' vision). The Near Detection Scale correlated significantly with sensorimotor understanding developmental quotients in the 'total', 'simple', and 'complex' groups (all pvisual impairment, especially in the 'complex' group with congenital disorders of the peripheral visual system with known brain involvement, showed the greatest cognitive delay. Lack of vision is associated with delayed early-object manipulative abilities and concepts; 'form' vision appeared to support early developmental advance. This paper provides baseline characteristics for cross-sectional and longitudinal follow-up investigations in progress. A methodological strength of the study was the representativeness of the cohort according to national epidemiological and population census data. © 2017 Mac Keith Press.

  19. Congenital lumbar hernia: 20 years' single centre experience.

    Science.gov (United States)

    Sharma, Anshuman; Pandey, Anand; Rawat, Jiledar; Ahmed, Intezar; Wakhlu, Ashish; Kureel, Shiv Narain

    2012-11-01

    Congenital lumbar hernia is an uncommon anomaly with only few cases reported in the English literature. This study was done to study the incidence, associated conditions, management and complications of congenital lumbar hernia repair in paediatric patients. Retrospective study of all patients over a period of 20 years (January 1990 to January 2010) was analysed. A total of 18 patients (two bilateral hernias) were encountered in this series. All were in the age group of 1 day to 6 years. All the patients were operated by open technique. Primary repair was done in 14 patients and prosthetic meshplasty in two. Two patients could not be operated. The average follow-up period was 3 years. There was no follow-up loss in our study. There was no evidence of recurrence in this series. Up until now, the total number of cases is 68. The large size of hernia defect (>10 cm) may determine the use of prosthetic mesh repair. Proper surgical treatment, either primary repair or hernioplasty, provides adequate management of this condition. © 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  20. EXPERIENCE OF ENDOSCOPIC CORRECTION OF CONGENITAL DIAPHRAGMATOCELE IN NEWBORNS

    Directory of Open Access Journals (Sweden)

    A. Y. Tarasov

    2013-01-01

    Full Text Available Study aim: analysis of surgical treatment of congenital diaphragmatocele on the basis of еру multi-profile republican hospital #1 of the National center of medicine. Study participants and methods. The article gives analysis of treatment results for 8 newborns (6 girls and 2 boys with false diaphragmatoceles. The average age at the moment of operation was 3 days. In 6 cases the malformation was revealed antenatally during ultrasound investigation within a prescribed period, in 3 cases – within the first antenatal hours. Results. All patients were operated thoratoscopically, average operation time – 60 minutes. No intraoperative complications, hemorrhage or conversion. Average time of post-operative artificial pulmonary ventilation – 5.6 days, of pleural draining – 4.7 days. Results were being evaluated from 6 months to 2 years after operation. An excellent direct and long-term functional and cosmetic result was achieved with all patients. Conclusions. Thoracoscopic plastic surgery of defects at false congenital diaphragmatocele introduced in clinical practice is a sufficiently safe procedure for newborns. Excellent visualization of all stages of intervention, lack of technical difficulties with bringing organs down and plastic surgery of the diaphragm itself and quick recovery in the nearest post-operative period are indubitable advantages of endosurgical intervention.

  1. Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)

    Science.gov (United States)

    Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

    2014-01-01

    Patient: Female, 6 Final Diagnosis: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: — Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Congenital defects Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. Case Report: We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). Conclusions: Disturbed articulation was diagnosed: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed. PMID:24478819

  2. Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome).

    Science.gov (United States)

    Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

    2014-01-01

    Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: - - Clinical Procedure: - Specialty: Otolaryngology. Congenital defects. Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). DISTURBED ARTICULATION WAS DIAGNOSED: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed.

  3. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

    NARCIS (Netherlands)

    Iqbal, Z.; Shahzad, M.; Vissers, L.E.L.M.; Scherpenzeel, M. van; Gilissen, C.; Razzaq, A.; Zahoor, M.Y.; Khan, S.N.; Kleefstra, T.; Veltman, J.A.; Brouwer, A.P.M. de; Lefeber, D.J.; Bokhoven, H. van; Riazuddin, S.

    2013-01-01

    Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17

  4. In utero therapy for congenital disorders using amniotic fluid stem cells

    Science.gov (United States)

    Ramachandra, Durrgah L.; Shaw, Steven S. W.; Shangaris, Panicos; Loukogeorgakis, Stavros; Guillot, Pascale V.; Coppi, Paolo De; David, Anna L.

    2014-01-01

    Congenital diseases are responsible for over a third of all pediatric hospital admissions. Advances in prenatal screening and molecular diagnosis have allowed the detection of many life-threatening genetic diseases early in gestation. In utero transplantation (IUT) with stem cells could cure affected fetuses but so far in humans, successful IUT using allogeneic hematopoietic stem cells (HSCs), has been limited to fetuses with severe immunologic defects and more recently IUT with allogeneic mesenchymal stem cell transplantation, has improved phenotype in osteogenesis imperfecta. The options of preemptive treatment of congenital diseases in utero by stem cell or gene therapy changes the perspective of congenital diseases since it may avoid the need for postnatal treatment and reduce future costs. Amniotic fluid stem (AFS) cells have been isolated and characterized in human, mice, rodents, rabbit, and sheep and are a potential source of cells for therapeutic applications in disorders for treatment prenatally or postnatally. Gene transfer to the cells with long-term transgenic protein expression is feasible. Recently, pre-clinical autologous transplantation of transduced cells has been achieved in fetal sheep using minimally invasive ultrasound guided injection techniques. Clinically relevant levels of transgenic protein were expressed in the blood of transplanted lambs for at least 6 months. The cells have also demonstrated the potential of repair in a range of pre-clinical disease models such as neurological disorders, tracheal repair, bladder injury, and diaphragmatic hernia repair in neonates or adults. These results have been encouraging, and bring personalized tissue engineering for prenatal treatment of genetic disorders closer to the clinic. PMID:25566071

  5. Pulmonary embolism in congenital bleeding disorders: intriguing discrepancies among different clotting factors deficiencies.

    Science.gov (United States)

    Girolami, Antonio; Cosi, Elisabetta; Tasinato, Valentina; Peroni, Edoardo; Girolami, Bruno; Lombardi, Anna Maria

    2016-07-01

    Pulmonary embolism is a complication of deep vein thrombosis. It occurs in the population with a normal clotting mechanism, but it may also occur in patients with congenital bleeding conditions. Here, we report on all cases of pulmonary embolism in congenital hemorrhagic disorders. All reported cases of pulmonary embolism in congenital coagulation disorders have been gathered by a time-unlimited PubMed search. Cross-checking of the references listed at the end of the single papers was carried out to avoid omissions. Seventy-two patients had an objectively demonstrated pulmonary embolism. The event occurred in patients with fibrinogen, factor V, factor VIII (FVII), FVIII, FIX, and FXI deficiency, and in those with von Willebrand's disease. No embolism was reported in FII, factor X, and FXIII deficiency. Thirty were women and 28 were men, whereas in the remaining 14 cases, sex was not reported. Age varied from 6 to 81 years (mean age 34.3 years). The management varied from only supportive to the administration of unfractionated heparin, low-molecular-weight heparin, and anti-vitamin K medications, accompanied by adequate replacement therapy. Evolution was fair or good in the majority of cases, but there were 10 fatalities. Risk factors were present in 61 patients. The most frequent of these were replacement therapy (35 cases), surgery (34), and old age (13). Some patients had more than one risk factor. Eleven patients had no risk factors. There are discrepancies in the prevalence of pulmonary embolism among different clotting disorders. The conditions most frequently affected are FVII deficiency and fibrinogen defects. The significance of the findings is discussed.

  6. Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand

    Science.gov (United States)

    Miedzybrodzka, Zosia

    2003-01-01

    Idiopathic (non-syndromic) congenital talipes equinovarus, or clubfoot, is a poorly understood but common developmental disorder of the lower limb, which affects at least 2 per 1000 Scottish births (ISD data). It is defined as a fixation of the foot in a hand-like orientation – in adduction, supination and varus – with concomitant soft tissue abnormalities. Despite advances in treatment, disability often persists. The aetiology of the condition has been little studied and is poorly understood. Neurological, muscular, bony, connective tissue and vascular mechanisms have been proposed, but the only firm evidence is that the mildest cases appear to be associated with intra-uterine posture. There is evidence for a genetic contribution to congenital talipes equinovarus aetiology. Its incidence varies with ethnic group, and we found that a family history is present in 24–50% of cases, depending on the population studied. Complex segregation analysis suggests that the most likely inheritance pattern is a single gene of major effect operating against a polygenic background. Possible mechanisms for congenital talipes equinovarus are discussed. PMID:12587918

  7. Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot - A rare Packaging disorder

    Science.gov (United States)

    Tiwari, Mukesh; Sharma, Nishith

    2013-01-01

    Introduction: Reduced intrauterine space gives rise to ‘packaging disorder’ which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK), bilateral congenital hip dislocation (CDH) and congenital talipes equino varus (CTEV)deformities. Case Report: A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper) with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Conclusion: Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good PMID:27298901

  8. No increased bleeding risk for oral surgery in patients with severe congenital bleeding disorders due to intense perioperative management.

    Science.gov (United States)

    Goldmann, G; Berens, C; Marquardt, N; Reich, R; Oldenburg, J; Wenghoefer, M

    2015-06-01

    In order to evaluate complication rates of dentoalveolar surgery in patients with congenital bleeding disorders, a retrospective case-control study was performed. A collective of patients with congenital bleeding disorders (n = 69), who received common oral surgery procedures in combination with intense perioperative monitoring and coagulation factor substitution at the University Hospital of Bonn between 1992 and 2011, was matched with patients without bleeding disorders by age, sex, and type of surgery. In addition to the rates of perioperative bleeding and other complications, the duration of surgery and the use of local hemostatic agents were compared between both cohorts. There were no significant differences between the two groups regarding the rate of postoperative bleeding (2.9 vs. 1.4%, patients with congenital bleeding disorders vs controls) and the rate of other complications (7.2 vs. 21.7%). Furthermore, no significant difference in operation time (54 min in patients with congenital bleeding disorders vs 45 min in controls) was observed. However, there was a significant difference (p complication rate following oral surgery in patients with hereditary bleeding disorders can be reduced to that of patients without bleeding disorders. However, these results are reached at significant costs due to coagulation factor replacement and inpatient treatment.

  9. Desmopressin acetate (DDAVP) for preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders.

    Science.gov (United States)

    Karanth, Laxminarayan; Barua, Ankur; Kanagasabai, Sachchithanantham; Nair, Sreekumar

    2015-09-09

    Congenital bleeding disorders can cause obstetric haemorrhage during pregnancy, labour and following delivery. Desmopressin acetate is found to be an effective drug which can reduce the risk of haemorrhage and can also stop bleeding in certain congenital bleeding disorders. Its use in pregnancy has been controversial. Hence beneficial and adverse effects of desmopressin acetate in these groups of pregnant women should be evaluated.This is an update of a Cochrane review first published in 2013. To determine the efficacy of desmopressin acetate in preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Coaguopathies Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant and abstract books of conferences proceedings. We also searched for any randomised controlled trials in a registry of ongoing trials and the reference lists of relevant articles and reviews.Date of most recent search: 18 June 2015. Randomised and quasi-randomised controlled trials investigating the efficacy of desmopressin acetate versus tranexamic acid or factor VIII or rFactor VII or fresh frozen plasma in preventing and treating congenital bleeding disorders during pregnancy were eligible. No trials matching the selection criteria were eligible for inclusion. No trials matching the selection criteria were eligible for inclusion. The review did not identify any randomised controlled trials investigating the relative effectiveness of desmopressin acetate for bleeding during pregnancy in women with congenital bleeding disorders. In the absence of high quality evidence, clinicians need to use their clinical judgement and lower level evidence (e.g. from observational trials) to decide whether or not to treat women with congenital bleeding disorders with desmopressin acetate.Given the ethical considerations, future

  10. Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness

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    Cammack J

    2016-08-01

    Full Text Available Jocelyn Cammack,1 John Whight,2 Vinette Cross,3 Andrew T Rider,1 Andrew R Webster,1,2 Andrew Stockman1 1Department of Visual Neuroscience, UCL Institute of Ophthalmology, 2Moorfields Eye Hospital, London, 3Centre for Health and Social Care Improvement, University of Wolverhampton, Wolverhampton, UK Abstract: An appreciation of the relation between laboratory measures of visual deficit and everyday perceptual experience is fundamental to understanding the impact of a visual condition on patients and so to a fuller characterization of the disorder. This study aims to understand better the interpretative processes by which modified sensory information is perceived by a patient with congenital stationary night blindness and the adaptive strategies that are devised to deal with their measurable visual loss. Psychophysical measurements of temporal resolution, spectral sensitivity, and color discrimination were conducted on a 78-year-old male patient with the condition, who was also interviewed at length about the ways in which his diagnosis affected his daily life. Narrative analysis was employed to identify the relation between his subjective perceptual experiences and functional deficits in identifiable components of the visual system. Psychophysical measurements indicated a complete lack of rod perception and substantially reduced cone sensitivity. Two particular effects of this visual loss emerged during interviews: 1 the development of navigational techniques that relied on light reflections and point sources of light and 2 a reluctance to disclose the extent of visual loss and resulting lifelong psychosocial consequences. This study demonstrates the valuable complementary role that rich descriptive patient testimony can play, in conjunction with laboratory and clinical measurements, in more fully characterizing a disorder and in reaching a more complete understanding of the experience of vision loss. It also evidences the particular

  11. Caries experience in young children with congenital heart disease in a developing country.

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    Pimentel, Elizangela Lins Cavalcanti; Azevedo, Vitor Manuel Pereira; Castro, Rodolfo de Almeida Lima; Reis, Luciana Carvalho; De Lorenzo, Andrea

    2013-01-01

    Oral care is frequently suboptimal in children from developing countries, especially those suffering from severe systemic diseases. The aim of the present study was to analyze the oral epidemiological profile of 3-to-5-year-old children with congenital heart disease. Dental and medical records of children evaluated at the Dental Service of the National Institute of Cardiology, Rio de Janeiro, Brazil, were reviewed. Caries experience was reported using the dmft index. Negative behavior towards dental management was recorded. The sample consisted of 144 children aged 4.41 ± 0.95 years. The mean dmft value was 5.4 ± 4.9, and 80.5% had at least one caries lesion. Dmft index was greater in the presence of cyanotic cardiac disease and in children with negative behavior. An increase in the "missing" component of the dmft index was also found in children using medicine on a daily basis. A higher caries experience was associated with children whose fathers had only an elementary education. In conclusion, children with congenital heart disease had high levels of caries experience at a young age. Cyanosis, negative behavior, daily use of medicine, one-parent family and the educational level of fathers seem to influence caries experience in children with congenital cardiac disease.

  12. The impact of robotic rehabilitation in children with acquired or congenital movement disorders.

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    Frascarelli, F; Masia, L; Di Rosa, G; Cappa, P; Petrarca, M; Castelli, E; Krebs, H I

    2009-03-01

    The aim of this study was to evaluate if the robot-mediated therapy (RMT) can yield positive outcomes in children with acquired or congenital upper extremity movement disorders. This was an uncontrolled pilot study with pre-post treatment outcome comparison carried out by the Pediatric Rehabilitation Department of a Children's Hospital. The study enrolled 12 children, aged 5 to 15 years, suffering from acquired (at least 12 months post-onset) or congenital upper limb motor impairment. 4 stroke, 6 traumatic brain injuries, and 2 hemiplegic cerebral palsy. RMT was provided 3 times a week for an hour during 6 weeks for a total of 18 robot therapy sessions. The Melbourne Scale (MS) and the upper-extremity subsection of the Fugl-Meyer Assessment (FMA) were used for measurement of impairment. Secondary outcome measurements were made through the Modified Ashworth Scale (MAS); the Reaching Performance Scale (RPS); Parent's Questionnaire, and robot-based evaluation measurements. Specifically, authors compared the smoothness, as measured by the jerk metric, and average speed of unconstrained reaching movements. Pre-post clinical evaluation revealed statistically significant gains for all primary and secondary metrics. In addition, significant improvement of robot-based metrics was observed. The primary outcome measurement mean (SEM) gains were 6.71 (1.29) for MS and 3.33 (0.80) for the FMA. RMT led to spasticity decreases in chronic cases, as shown by the reduction of MAS. It led to improved trunk-upper extremity postural attitude as demonstrated by improved RPS, and it was well accepted by parents and children as observed in the Parent's Questionnaire. This study suggests that RMT may hold rehabilitative benefits in children suffering from acquired and congenital hemiparesis.

  13. Between invisible defects and visible impact: the life experiences of adolescents and young adults with congenital heart disease.

    Science.gov (United States)

    Chiang, Yueh-Tao; Chen, Chi-Wen; Su, Wen-Jen; Wang, Jou-Kou; Lu, Chun-Wei; Li, Yuh-Fen; Moons, Philip

    2015-03-01

    To describe the life experiences of adolescents and young adults with congenital heart disease. Owing to medical advances, most children with congenital heart disease are expected to survive into adulthood. The transitional development from adolescence to adult is the critical period for fostering self-care. Descriptive phenomenological study. Thirty-five patients of 15-24 years old with congenital heart disease were recruited from paediatric cardiology clinics by purposive sampling. They were individually interviewed between October 2012-February 2013 using a semi-structured interview guideline and joined adult congenital heart disease clinics at two medical centres in northern Taiwan. The data were analysed using descriptive phenomenological method developed by Giorgi. The essence of the life experience of adolescents and young adults with congenital heart disease involves a dynamic process of moving between invisible defects and coexistence with the disease. Six themes emerged: (1) invisible defects: the existence of imperfect understanding; (2) conflict: interpersonal frustrations; (3) imbalance: the loss of self-balance; (4) suffering: increasing anxiety; (5) encounters: meeting needs; and (6) coexistence: positive coping strategies. As patients with congenital heart disease transition from adolescence into adulthood, they must learn about their disease, overcome frustration and anxiety and develop self-care strategies for coexisting with congenital heart disease. Results of this study may serve as clinical care guidelines for adolescents and young adults with congenital heart disease and give a reference for developing transitional intervention strategies. © 2014 John Wiley & Sons Ltd.

  14. Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders.

    Science.gov (United States)

    Neerman-Arbez, Marguerite; de Moerloose, Philippe; Casini, Alessandro

    2016-06-01

    Congenital fibrinogen disorders are classified into two types of plasma fibrinogen defects: type I (quantitative fibrinogen deficiencies), that is, hypofibrinogenemia or afibrinogenemia, in which there are low or absent plasma fibrinogen antigen levels, respectively, and type II (qualitative fibrinogen deficiencies), that is, dysfibrinogenemia or hypodysfibrinogenemia, in which there are normal or reduced antigen levels associated with disproportionately low functional activity. These disorders are caused by mutations in the three fibrinogen-encoding genes FGA, FGB, and FGG. Afibrinogenemia is associated with mild to severe bleeding, whereas hypofibrinogenemia is often asymptomatic. For these quantitative disorders, the majority of mutations prevent protein production. However, in some cases, missense or late-truncating nonsense mutations allow synthesis of the mutant fibrinogen chain, but intracellular fibrinogen assembly and/or secretion are impaired. Qualitative fibrinogen disorders are associated with bleeding, thrombosis, or both thrombosis and bleeding, but many dysfibrinogenemias are asymptomatic. The majority of cases are caused by heterozygous missense mutations. Here, we review the laboratory and genetic diagnosis of fibrinogen gene anomalies with an updated discussion of causative mutations identified. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  15. Congenital megaprepuce: a 12-year experience (52 cases) of this specific form of buried penis.

    Science.gov (United States)

    Rod, Julien; Desmonts, Alexis; Petit, Thierry; Ravasse, Philippe

    2013-12-01

    Congenital megaprepuce is a specific form of buried penis. Children affected by this malformation usually suffer from a subjective difficulty in voiding which is the main indication for early surgical correction. The aim of this study was to report a single center's 12-year experience in the treatment of megaprepuce in children, describing the surgical procedure we used to treat it and the results. We retrospectively reviewed the charts of all children who underwent congenital megaprepuce repair between January 1999 and August 2011 in our institution. Fifty-two children were operated during the study period. Our single surgical technique, not an original one, consists of fixing the penile shaft at the base of the penis, and widely reducing the inner prepuce. Four children (8%) underwent revision surgery but according to our criteria a very good result was observed in only 23 patients, and a less good but still acceptable result in 25 patients. Our 12-year experience in the surgical treatment of congenital megaprepuce demonstrated satisfying results from a safe and simple surgical technique, but to achieve the optimum result remains difficult. Copyright © 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  16. Dental health and oral health-related quality of life in children with congenital bleeding disorders.

    Science.gov (United States)

    Salem, K; Eshghi, P

    2013-01-01

    The purpose of this study was to investigate the dental and some other aspects of oral health status of young patients with congenital bleeding disorders (CBD) and the impact of these on their quality of life (OHR-QoL) compared with controls. DMFS-dmfs (Decayed, Missed, Filled Tooth surfaces in permanent and primary teeth) scores, Simplified oral hygiene index, occurance of hypoplasia of first permanent molars, Temporomandibular joint dysfunction and occlusion of 46 CBD patients at the age range of 2-15 years and 46 of other children as control were compared, and the impact of their oral health situation on quality of life was also investigated. Data were analysed by chi-square, t-test and Pearson correlation. Patients were significantly more caries-free with less decayed teeth in primary-permanent dentition (P = 0.03, t = -2.17).The mean scores of OHR-QoL of CBD patients and controls were not significantly different. Oral Bleeding was the significant variable in relation to 'oral health-related quality of life' in CBD groups (Pearson correlation, r = -0.56, P = 0.000). OHR-QoL in the control group was related to dmfs score (r = -0.392, P = 0.011) and male gender (r = -0.329, P = 0.026). Congenital bleeding disorder CBD patients were found to have a better dental health situation in primary dentition compared with controls; however, their 'oral health-related quality of life' was similar. Oral bleeding was the only significant factor related to OHR-QoL in CBD. It shows an overall importance of development of comprehensive care centres for CBD as the main cause of this achievement. © 2012 Blackwell Publishing Ltd.

  17. Information Technology and the Experience of Disorder

    Directory of Open Access Journals (Sweden)

    Jonathan Paul Marshall

    2012-11-01

    Full Text Available Information and communication technology (ICT is a prime modality of ordering in the contemporary world. However, order creates and needs its own disorder, and ICT has a long record of failing to deliver on its promises and creating the experience of disorder. This paper looks at the myths of ordering around ICT and then looks at people's experiences of ICT disorder. In particular it looks at three factors: the informal networks that develop because of problems with ICT and with ICT help; the failure of management and communication in hierarchy and finally the failure of requirements engineering to live up to its promise. This focus on disorder may suggest a new way of approaching the so-called ‘Information Society’.

  18. Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity

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    Mary E. Norton

    2014-01-01

    Full Text Available Little is known about women’s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS, fragile X (FraX, cystic fibrosis (CF, spinal muscular atrophy (SMA, phenylketonuria (PKU and congenital heart defects (CHD. Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA. Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD, 41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD versus those associated with intellectual disability (DS, FraX and were most likely to terminate for SMA, typically lethal in childhood.

  19. Congenital imprinting disorders: application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management

    OpenAIRE

    Soellner, Lukas; Monk, David; Rezwan, Faisal I.; Begemann, Matthias; Mackay, Deborah; Eggermann, Thomas

    2015-01-01

    Imprinting disorders (IDs) are a group of congenital diseases affecting growth, development and metabolism. They are caused by changes in the allele-specific regulation (“epigenetic mutation”) or in the genomic sequence (“genetic mutation”) of imprinted genes. Currently molecular tests in ID patients are generally restricted to single loci classically associated with the disease, but this approach limits diagnostic yield, because of the molecular and clinical heterogeneity between IDs. From t...

  20. Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia).

    Science.gov (United States)

    Blank, C; Smith, L A; Hammer, D A; Fehrenbach, M; Delisser, H M; Perez, E; Sullivan, K E

    2006-08-01

    Congenital disorder of glycosylation Ia is the most common defect of glycosylation and is due to mutations in phosphomannomutase 2. This leads to aberrant N-linked oligosaccharides. The phenotype of CDG Ia reflects the essential nature of glycosylation and patients typically present with multiple organs affected, with hypotonia, developmental delay, inverted nipples and abnormal fat pads. Later features include retinitis pigmentosa, stroke, cerebellar atrophy and malabsorption. Approximately 20% of patients die in the first year of life and infection is the most common cause of death. Immunological function has not previously been investigated in these patients and the critical role of oligosaccharides on adhesion molecules suggested that haematopoietic cell migration and communication could be disrupted by mutations in phosphomannomutase 2. We characterized the clinical features, performed standard immunological evaluations, and performed specific analyses of neutrophil adhesion molecules on two patients to address this question. Patient neutrophils had diminished chemotaxis but expressed comparable levels of adhesion molecules and rolled on artificial endothelium equivalently to control neutrophils. The most significant feature of the patients' immunological function was poor vaccine responses. These two affected patients were begun on intravenous immunoglobulin with some improvement in their infections.

  1. Congenital rubella syndrome and autism spectrum disorder prevented by rubella vaccination - United States, 2001-2010

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    Omer Saad B

    2011-05-01

    Full Text Available Abstract Background Congenital rubella syndrome (CRS is associated with several negative outcomes, including autism spectrum disorders (ASDs. The objective of this study was to estimate the numbers of CRS and ASD cases prevented by rubella vaccination in the United States from 2001 through 2010. Methods Prevention estimates were calculated through simple mathematical modeling, with values of model parameters determined from published literature. Model parameters included pre-vaccine era CRS incidence, vaccine era CRS incidence, the number of live births per year, and the percentage of CRS cases presenting with an ASD. Results Based on our estimates, 16,600 CRS cases (range: 8300-62,250 were prevented by rubella vaccination from 2001 through 2010 in the United States. An estimated 1228 ASD cases were prevented by rubella vaccination in the United States during this time period. Simulating a slight expansion in ASD diagnostic criteria in recent decades, we estimate that a minimum of 830 ASD cases and a maximum of 6225 ASD cases were prevented. Conclusions We estimate that rubella vaccination prevented substantial numbers of CRS and ASD cases in the United States from 2001 through 2010. These findings provide additional incentive to maintain high measles-mumps-rubella (MMR vaccination coverage.

  2. Pediatric and congenital heart transplant: twenty-year experience in a tertiary Brazilian Hospital

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    Leonardo Augusto Miana

    2014-09-01

    Full Text Available Introduction: Cardiac transplantation remains the gold standard for end-stage cardiomyopathies and congenital heart defects in pediatric patients. Objective: This study aims to report on 20 years of experience since the first case and evaluate our results. Methods: We conducted a retrospective analysis of the database and outpatient follow-up. Between October 1992 and April 2012, 109 patients underwent 114 transplants. 51.8% of them being female. The age of patients ranged from 12 days to 21 years with a mean of 8.8±5.7 years and a median of 5.2 years. The underlying diagnosis was dilated cardiomyopathy in 61.5%, congenital heart disease in 26.6% and restrictive cardiomyopathy in 11.9%. All patients above 17 years old had congenital heart disease. Results: Survival rate at 30 days, 1, 5, 10, 15, and 20 years were 90.4%, 81.3%, 70.9%, 60.5%, 44.4% and 26.7%, respectively. Mean cold ischemic time was 187.9 minutes and it did not correlate with mortality (P>0.05. Infectious complications and rejection episodes were the most common complications (P<0.0001, occurring, respectively, in 66% and 57.4% of the survivors after 10 years. There was no incidence of graft vascular disease and lymphoproliferative disease at year one, but they affected, respectively, 7.4% and 11% of patients within 10 years. Conclusion: Twenty-year pediatric heart transplant results at our institution were quite satisfactory and complication rates were acceptable.

  3. Congenital bronchopulmonary malformations: A single-center experience and a review of literature

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    Kumar Basant

    2008-01-01

    Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.

  4. A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].

    Science.gov (United States)

    Schröder, Julia C; Läßig, Anne K; Galetzka, Danuta; Peters, Angelika; Castle, John C; Diederich, Stefan; Zechner, Ulrich; Müller-Forell, Wibke; Keilmann, Annerose; Bartsch, Oliver

    2013-02-18

    We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly, plagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic genitalia and faulty foot posture. Parents were consanguineous. Computed tomography and magnetic resonance imaging showed bilateral single widened cochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve. Microarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1 spanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear protein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance disorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and thus a congenital cranial dysinnervation disorder. Based on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly propose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for non-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from being causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor more than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing loss and congenital cranial dysinnervation disorder including cranial nerves V and VIII.

  5. Incidence of Congenital Heart Disease: The 9-Year Experience of the Guangdong Registry of Congenital Heart Disease, China

    OpenAIRE

    Yanji Qu; Xiaoqing Liu; Jian Zhuang; Guanchun Chen; Jinzhuang Mai; Xiaoling Guo; Yanqiu Ou; Jimei Chen; Wei Gong; Xiangmin Gao; Yong Wu; Zhiqiang Nie

    2016-01-01

    There are 16.5 million newborns in China annually. However, the incidence of congenital heart disease (CHD) has not been evaluated. In 2004, we launched an active province-wide hospital-based CHD registry in the Guangdong Province of southern China. In this study, we examined the incidence of CHD and its subtypes from 2004 to 2012 and compared our findings to the literature. Our results indicate there is an increasing trend of CHD incidence. The increase in incidence occurred mainly for singl...

  6. Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

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    Wendy E. Heywood

    2016-06-01

    Full Text Available The Congenital Disorders of Glycosylation (CDG are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular dystroglycanopathies (MD. Initial screening of CDG is usually based on the investigation of the glycoproteins transferrin, and/or apolipoprotein CIII. These biomarkers do not always detect complex or subtle defects present in older patients, therefore there is a need to investigate additional glycoproteins in some cases. We describe a sensitive 2D-Differential Gel Electrophoresis (DIGE method that provides a global analysis of the serum glycoproteome. Patient samples from PMM2-CDG (n = 5, CDG-II (n = 7, MD and known complex N- & O-linked glycosylation defects (n = 3 were analysed by 2D DIGE. Using this technique we demonstrated characteristic changes in mass and charge in PMM2-CDG and in charge in CDG-II for α1-antitrypsin, α1-antichymotrypsin, α2-HS-glycoprotein, ceruloplasmin, and α1-acid glycoproteins 1&2. Analysis of the samples with known N- & O-linked defects identified a lower molecular weight glycoform of C1-esterase inhibitor that was not observed in the N-linked glycosylation disorders indicating the change is likely due to affected O-glycosylation. In addition, we could identify abnormal serum glycoproteins in LARGE and B3GALNT2-deficient muscular dystrophies. The results demonstrate that the glycoform pattern is varied for some CDG patients not all glycoproteins are consistently affected and analysis of more than one protein in complex cases is warranted. 2D DIGE is an ideal method to investigate the global glycoproteome and is a potentially powerful tool and secondary test for aiding the complex diagnosis and sub classification of CDG. The technique has further potential in monitoring patients for future treatment strategies. In an era of shifting emphasis from gel- to mass-spectral based

  7. Additive effect of congenital heart disease and early developmental disorders on attention-deficit/hyperactivity disorder and autism spectrum disorder: a nationwide population-based longitudinal study.

    Science.gov (United States)

    Tsao, Pei-Chen; Lee, Yu-Sheng; Jeng, Mei-Jy; Hsu, Ju-Wei; Huang, Kai-Lin; Tsai, Shih-Jen; Chen, Mu-Hong; Soong, Wen-Jue; Kou, Yu Ru

    2017-11-01

    In this retrospective nationwide population-based case-control study, we investigated the impact of congenital heart disease (CHD) on the development of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), which remains unclear. Children aged disorders (EDD) that were diagnosed before ADHD and ASD diagnosis were also analyzed. The incidence rates of perinatal comorbidities, EDD, ADHD, and ASD were higher in the CHD group than in the control group. Multivariate Cox regression analysis revealed that the CHD group had an increased risk of developing ADHD (adjusted hazard ratio [aHR] 2.52, 95% confidence interval CI 1.96-3.25) and ASD (aHR 1.97, 95% CI 1.11-3.52) after adjusting for confounding comorbidities. EDD, but not perinatal comorbidities were also independent risk factors for ADHD and ASD after adjustment. Subgroup analysis indicated that the risk for ADHD (HR 16.59, 95% CI 12.17-22.60) and ASD (HR 80.68, 95% CI 39.96-176.12) was greatly increased in CHD subjects with EDD than in non-CHD subjects without EDD. These findings suggested that CHD at birth and EDD during early childhood were two independent risk factors for ADHD and ASD and that concurrent CHD and EDD might additively increase these risks.

  8. Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

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    William M. Parkinson

    2016-05-01

    Full Text Available Congenital disorders of glycosylation (CDGs constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins. The resulting symptomatic hypoglycosylation causes multisystemic defects that include severe neurological impairments, revealing a particularly critical requirement for tightly regulated glycosylation in the nervous system. The most common CDG, CDG-Ia (PMM2-CDG, arises from phosphomannomutase type 2 (PMM2 mutations. Here, we report the generation and characterization of the first Drosophila CDG-Ia model. CRISPR-generated pmm2-null Drosophila mutants display severely disrupted glycosylation and early lethality, whereas RNAi-targeted knockdown of neuronal PMM2 results in a strong shift in the abundance of pauci-mannose glycan, progressive incoordination and later lethality, closely paralleling human CDG-Ia symptoms of shortened lifespan, movement impairments and defective neural development. Analyses of the well-characterized Drosophila neuromuscular junction (NMJ reveal synaptic glycosylation loss accompanied by defects in both structural architecture and functional neurotransmission. NMJ synaptogenesis is driven by intercellular signals that traverse an extracellular synaptomatrix and are co-regulated by glycosylation and matrix metalloproteinases (MMPs. Specifically, trans-synaptic signaling by the Wnt protein Wingless (Wg depends on the heparan sulfate proteoglycan (HSPG co-receptor Dally-like protein (Dlp, which is regulated by synaptic MMP activity. Loss of synaptic MMP2, Wg ligand, Dlp co-receptor and downstream trans-synaptic signaling occurs with PMM2 knockdown. Taken together, this Drosophila CDG disease model provides a new avenue for the dissection of cellular and molecular mechanisms underlying neurological impairments and is a means by which to discover and test novel therapeutic treatment strategies.

  9. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... blood cells. This disorder is one of many types of anemia , which is a condition characterized by a shortage ... link) PubMed OMIM (3 links) ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE ...

  10. Bone-anchored hearing aids (Baha) in congenital aural atresia: personal experience.

    Science.gov (United States)

    Ricci, Giampietro; Volpe, Antonio Della; Faralli, Mario; Longari, Fabrizio; Lancione, Carla; Varricchio, Alfonso Maria; Frenguelli, Antonio

    2011-03-01

    Aural atresia is a congenital disease constituted by partial or complete lack of development of the external auditory canal, which is generally associated with malformations of the auricle and middle ear. Reconstruction of the auditory canal and correction of any deformities of the middle ear have yielded unpredictable results and variable functional outcomes, and there is a high rate of complications. Therefore, the use of bone-conduction hearing aids, such as the Baha, may represent a valid alternative for subjects who have conductive hearing loss with cochlear reserve that, as a rule, is fully conserved. The aim of this work is to reexamine our experience with the management of conductive and mixed hearing loss using the Baha system in children with bilateral aural atresia. We examined 31 patients with bilateral congenital aural atresia in whom a Baha system had been implanted. The patients, 16 males and 15 females, were between 5 and 14 years of age (mean 8.7). The following parameters were assessed for each patient: mean preoperative air and bone conduction for frequencies between 0.5 and 4kHz; mean preoperative threshold with conventional bone-conduction hearing aids; mean postoperative threshold with the Baha system; improvement in quality of life evaluated with the Glasgow Children's Benefit Inventory; rate and type of surgical complications. The mean preoperative air- and bone-conduction thresholds were 51.2±12.5 and 14.1±6.3dB HL, respectively. The mean preoperative threshold with a conventional bone-conduction hearing aid was 29.3±7.2dB HL, and the mean postoperative threshold with the Baha system was 18.1±7.5dB HL. Quality of life improved for all operated patients. The results of our study of the Baha system to treat patients with bilateral aural atresia were extremely satisfactory compared both with those of surgical reconstruction of the auditory canal and those of traditional bone-conduction hearing aids. Furthermore, great improvement was noted

  11. [Clinical experiences on correction of congenital heart diseases with robotic technology: a report of 160 cases].

    Science.gov (United States)

    Yang, Ming; Gao, Chang-qing; Xiao, Cang-song; Wang, Gang; Wang, Jia-li; Wu, Yang

    2012-08-28

    To summarize the clinical experiences on correction of congenital heart disease with robotic technology at a single center. Between January 2007 and May 2012, this retrospective study recruited 160 consecutive patients undergoing robotic surgery for congenital heart diseases. There were 74 males and 86 females with a median age of 35 years (range: 11-62). The procedures included secundum-type atrial septal defect repair (n = 130), ostium primum defect repair (n = 1), perimembranous ventricular septal defect repair (n = 21), mitral valve repair for anterior leaflet cleft (n = 7) and mitral valve repair plus left atrial myxoma resection (n = 1). Cardiopulmonary bypass graft was established through cannulation of right femoral artery, vein and right internal jugular vein under the guidance of transesophageal ultrasound. Myocardial protection was performed with cold blood cardioplegic solution or HTK solution and a transthoracic Chitwood clamp was used to occlude ascending aorta. Via three 8-mm ports and one 15-mm port in right chest, the microscopic instruments were manipulated to complete defect closure or mitral valve plasty, utilizing da Vinci S or da Vinci SI robotic system. Echocardiography was performed intraoperatively and at pre-discharge. Routine follow-ups were conducted. The clinical data of operating time, cardiopulmonary bypass time and follow-up examinations were retrospectively analyzed. All cases were treated successfully without a conversion into median sternotomy. No operative mortality or severe surgical complications were observed. Seventy-six cases of secundum-type atrial septal defect were completed on beating heart. The learning curves were noted for operating time of beating heart group and cross clamp time of arrest heart group. No residual shunt, malignant arrhythmia or mitral valve regurgitation was detected on intraoperative or postoperative echocardiography and during a median follow-up period of (29.1 ± 16.3) months. Robotic minimal

  12. Operative treatment of congenital pseudarthrosis of the clavicle: a single-centre experience.

    Science.gov (United States)

    Studer, Kathrin; Baker, Markus P; Krieg, Andreas H

    2017-05-01

    Congenital pseudarthrosis of the clavicle (CPC) is a very rare condition with a predilection for the right clavicle. Young children are often only symptomatic with activities and as they grow. Operative management in an asymptomatic child is debatable, with various techniques reported in the literature. This is a retrospective, single-centre case series study. All children with CPC treated surgically by resection, bone grafting (nonvascular iliac crest) and plate fixation between 2004 and 2012 at our centre were included. Excluded conditions were traumatic or obstetric fractures of the clavicle, children with musculoskeletal or neurological disorders and children lost to follow-up. Clinical and radiological examination was performed at 6 weeks, 3 months and between 6 and 12 months postoperatively. A total of eight clavicles in seven children (four girls and three boys), with a mean age of 7.1 years (5-8 years), were operated with a mean follow-up of 7 years (4-10 years). In six children, the right (dominant) side was affected, with one child affected bilaterally. Overall, 85% of our patients showed good functional results 6 weeks postoperatively and complete radiographic consolidation at a mean of 8.5 months (3-25 months) postoperatively. One female child showed delayed union, but without clinical deficit. There was low donor-site morbidity. We recommend early operative treatment of CPC with a nonvascularized bone graft from the iliac crest and plate fixation. IV.

  13. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.

    Science.gov (United States)

    Eklund, Erik A; Merbouh, Nabyl; Ichikawa, Mie; Nishikawa, Atsushi; Clima, Jessica M; Dorman, James A; Norberg, Thomas; Freeze, Hudson H

    2005-11-01

    Patients with Type I congenital disorders of glycosylation (CDG-I) make incomplete lipid-linked oligosaccharides (LLO). These glycans are poorly transferred to proteins resulting in unoccupied glycosylation sequons. Mutations in phosphomannomutase (PMM2) cause CDG-Ia by reducing the activity of PMM, which converts mannose (Man)-6-P to Man-1-P before formation of GDP-Man. These patients have reduced Man-1-P and GDP-Man. To replenish intracellular Man-1-P pools in CDG-Ia cells, we synthesized two hydrophobic, membrane permeable acylated versions of Man-1-P and determined their ability to normalize LLO size and N-glycosylation in CDG-Ia fibroblasts. Both compounds, compound I (diacetoxymethyl 2,3,4,6-tetra-O-acetyl-alpha-D-mannopyranosyl phosphate) (C-I) and compound II (diacetoxymethyl 2,3,4,6-tetra-O-ethyloxycarbonyl-alpha-D-mannopyranosyl phosphate) (C-II), contain two acetoxymethyl (CH2OAc) groups O-linked to phosphorous. C-I contains acetyl esters and C-II contains ethylcarbonate (CO2Et) esters on the Man residue. Both C-I and C-II normalized truncated LLO, but C-II was about 2-fold more efficient than C-I. C-II replenished the GDP-Man pool in CDG-Ia cells and was more efficiently incorporated into glycoproteins than exogenous Man at low concentrations (25-75 mM). In a glycosylation assay of DNaseI in CDG-Ia cells, C-II restored glycosylation to control cell levels. C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in cells from an ALG12 mannosyltransferase-deficient patient (CDG-Ig), whereas cells from an ALG3-deficient patient (CDG-Id) and from an MPDU1-deficient patient (CDG-If) were not corrected. These results validate the general concept of using pro-Man-1-P substrates as potential therapeutics for CDG-I patients.

  14. Incidence of Congenital Heart Disease: The 9-Year Experience of the Guangdong Registry of Congenital Heart Disease, China

    Science.gov (United States)

    Zhuang, Jian; Chen, Guanchun; Mai, Jinzhuang; Guo, Xiaoling; Ou, Yanqiu; Chen, Jimei; Gong, Wei; Gao, Xiangmin; Wu, Yong; Nie, Zhiqiang

    2016-01-01

    There are 16.5 million newborns in China annually. However, the incidence of congenital heart disease (CHD) has not been evaluated. In 2004, we launched an active province-wide hospital-based CHD registry in the Guangdong Province of southern China. In this study, we examined the incidence of CHD and its subtypes from 2004 to 2012 and compared our findings to the literature. Our results indicate there is an increasing trend of CHD incidence. The increase in incidence occurred mainly for single lesion and the most common subtypes (e.g., ventricular or atrial septal defect, patent ductus arteriosus). There were no increases found for multiple lesions or more complex subtypes. The proportion of CHD cases that were detected early (e.g., 1 week) increased over time. The incidence of CHD stabilized in 2010–2012 with the average cumulative incidences of 9.7, 9.9, and 11.1 per 1,000 live births at 1 week, 1 month, and 1 year, respectively. The incidences of CHD subtypes were comparable with recent international results. The data did not support previous reports that Asian children have a higher incidence of pulmonary outflow obstructions and lower incidence of transposition of the great arteries. However, there was a lower incidence of left ventricular outflow tract obstructions observed in our series. The increase in CHD incidence observed over time was due to improved detection and diagnosis. The true incidence of CHD in China was approximately 11.1 per 1,000 live births, which is higher than previously reported. PMID:27409588

  15. Incidence of Congenital Heart Disease: The 9-Year Experience of the Guangdong Registry of Congenital Heart Disease, China.

    Directory of Open Access Journals (Sweden)

    Yanji Qu

    Full Text Available There are 16.5 million newborns in China annually. However, the incidence of congenital heart disease (CHD has not been evaluated. In 2004, we launched an active province-wide hospital-based CHD registry in the Guangdong Province of southern China. In this study, we examined the incidence of CHD and its subtypes from 2004 to 2012 and compared our findings to the literature. Our results indicate there is an increasing trend of CHD incidence. The increase in incidence occurred mainly for single lesion and the most common subtypes (e.g., ventricular or atrial septal defect, patent ductus arteriosus. There were no increases found for multiple lesions or more complex subtypes. The proportion of CHD cases that were detected early (e.g., 1 week increased over time. The incidence of CHD stabilized in 2010-2012 with the average cumulative incidences of 9.7, 9.9, and 11.1 per 1,000 live births at 1 week, 1 month, and 1 year, respectively. The incidences of CHD subtypes were comparable with recent international results. The data did not support previous reports that Asian children have a higher incidence of pulmonary outflow obstructions and lower incidence of transposition of the great arteries. However, there was a lower incidence of left ventricular outflow tract obstructions observed in our series. The increase in CHD incidence observed over time was due to improved detection and diagnosis. The true incidence of CHD in China was approximately 11.1 per 1,000 live births, which is higher than previously reported.

  16. Incidence of Congenital Heart Disease: The 9-Year Experience of the Guangdong Registry of Congenital Heart Disease, China.

    Science.gov (United States)

    Qu, Yanji; Liu, Xiaoqing; Zhuang, Jian; Chen, Guanchun; Mai, Jinzhuang; Guo, Xiaoling; Ou, Yanqiu; Chen, Jimei; Gong, Wei; Gao, Xiangmin; Wu, Yong; Nie, Zhiqiang

    2016-01-01

    There are 16.5 million newborns in China annually. However, the incidence of congenital heart disease (CHD) has not been evaluated. In 2004, we launched an active province-wide hospital-based CHD registry in the Guangdong Province of southern China. In this study, we examined the incidence of CHD and its subtypes from 2004 to 2012 and compared our findings to the literature. Our results indicate there is an increasing trend of CHD incidence. The increase in incidence occurred mainly for single lesion and the most common subtypes (e.g., ventricular or atrial septal defect, patent ductus arteriosus). There were no increases found for multiple lesions or more complex subtypes. The proportion of CHD cases that were detected early (e.g., 1 week) increased over time. The incidence of CHD stabilized in 2010-2012 with the average cumulative incidences of 9.7, 9.9, and 11.1 per 1,000 live births at 1 week, 1 month, and 1 year, respectively. The incidences of CHD subtypes were comparable with recent international results. The data did not support previous reports that Asian children have a higher incidence of pulmonary outflow obstructions and lower incidence of transposition of the great arteries. However, there was a lower incidence of left ventricular outflow tract obstructions observed in our series. The increase in CHD incidence observed over time was due to improved detection and diagnosis. The true incidence of CHD in China was approximately 11.1 per 1,000 live births, which is higher than previously reported.

  17. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

  18. 46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.

    Science.gov (United States)

    Esplin, Edward D; Chaib, Hassan; Haney, Michael; Martin, Brock; Homeyer, Margaret; Urban, Alexander E; Bernstein, Jonathan A

    2015-06-01

    The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases. © 2015 Wiley Periodicals, Inc.

  19. Congenital and acquired pediatric breast anomalies: a review of 20 years' experience.

    Science.gov (United States)

    Sadove, A Michael; van Aalst, John A

    2005-04-01

    The purpose of this article was to review the senior author's 20 years of experience in the treatment of pediatric breast abnormalities, to propose a classification system for their treatment, and to provide a synopsis of treatment options. Congenital and acquired breast anomalies were identified in a retrospective chart review (n = 66). Breast abnormalities were classified as hyperplastic (n = 44), deformational (n = 11), or hypoplastic (n = 11). Hyperplastic abnormalities included gynecomastia, hyperplasia, polythelia, polymastia, and giant fibroadenoma. Deformational abnormalities were categorized as either iatrogenic (previous thoracostomy, thoracotomy, or tumor excision) or traumatic (thermal or penetrating injuries). Hypoplastic abnormalities included athelia, unilateral and bilateral hypoplasia, tuberous breast, and Poland syndrome. Type of surgery, age at initial operation, and number of operations were recorded for all patients. Hyperplastic abnormalities were treated with breast reduction techniques and required the fewest operations per patient (1.14), followed by iatrogenic breast injury (2.1 per patient). The average number of procedures required for hypoplastic abnormalities was 2.45 per patient. The highest reoperation rates were seen in patients with burn injuries to the breast and patients with Poland syndrome. Mean age at initial operation was highest in the deformational group (18.5 years) and lowest in the hyperplastic group (17.4 years). Classification of pediatric breast abnormalities and considerations about timing for surgery and the likely need for staged operations aid in anticipating and optimizing clinical outcomes.

  20. Congenital coronary artery anomalies in adults: review of 111 cases from a single-centre experience.

    Science.gov (United States)

    Çanga, Yiğit; Güvenç, Tolga S; Karataş, Mehmet B; Çalık, Ali N; Onuk, Tolga; Tanık, Veysel O; Güngör, Barış; Bolca, Osman

    2017-08-01

    Coronary artery anomalies are a heterogeneous group of congenital disorders presenting with a wide spectrum of symptoms, ranging from vague chest pain to sudden cardiac death. Despite available data, there is no consensus about the classification, nomenclature, and outcomes of coronary anomalies in the normally connected heart. In this study, we aimed to investigate clinical and angiographic characteristics of coronary arterial anomalies, as well as the frequency of atherosclerotic involvement in anomalous coronaries, diagnosed at a tertiary referral centre. We retrospectively reviewed coronary angiograms performed between 2011 and 2015 for the presence of a coronary anomaly. A total of 111 patients with a final diagnosis of coronary anomaly were included in the study group. We also recruited 110 age- and sex-matched patients who underwent coronary angiography because of symptomatic coronary artery disease as controls. Among 36,893 coronary angiograms, 111 (0.30%) major coronary anomalies were found. Compared with controls, the prevalence of significant atherosclerotic coronary disease was lower in patients with coronary anomalies and stable symptoms (p=0.02); however, the prevalence of significant coronary atherosclerosis was similar among patients admitted with unstable angina or myocardial infarction (p>0.05). Compared with controls, patients with an anomalous left anterior descending coronary artery had significantly less atherosclerotic involvement than those in whom the left anterior descending artery was not anomalous (p=0.005). Although coronary artery anomalies are cited as a cause for myocardial ischaemia, atherosclerotic coronary artery disease is also frequent and may offer an alternative explanation to ischaemic symptoms. No predisposition to accelerated atherosclerosis was found, however, and atherosclerotic involvement was less frequent in some anomalous vessels.

  1. Applications of Flexible Bronchoscopy in Infants with Congenital Vocal Cord Paralysis: A 12-Year Experience

    Directory of Open Access Journals (Sweden)

    Chien-Hung Kuo

    2008-10-01

    Conclusion: In order to allow prompt diagnosis of congenital VCP, FB should be performed in every newborn infant with stridor. Patients with congenital VCP should undergo additional imaging studies to detect any associated neurological abnormalities and intrathoracic comorbidities. The majority of patients can be managed conservatively and monitored carefully using serial FB. Corrective surgery should be reserved for those with a lack of resolution at prolonged follow-up, and those with significant comorbidities.

  2. Absence of Left Circumflex Artery: A Rare Congenital Disorder of Coronary Arteries

    Directory of Open Access Journals (Sweden)

    Saad Ullah

    2017-01-01

    Full Text Available Congenital absence of left circumflex artery is a rare occurrence and very few cases have been reported in literature. It is a benign incidental finding; however some patients present with sudden onset chest pain mimicking acute coronary syndrome often resulting in detection of this rare anatomy on coronary angiography. Coronary computed tomography angiography is a relatively new noninvasive imaging modality which can be used to confirm this suspicion and diagnose this unique morphology reliably.

  3. Neuropathological Changes and Clinical Features of Autism Spectrum Disorder Participants Are Similar to that Reported in Congenital and Chronic Cerebral Toxoplasmosis in Humans and Mice

    Science.gov (United States)

    Prandota, Joseph

    2010-01-01

    Anatomic, histopathologic, and MRI/SPET studies of autistic spectrum disorders (ASD) patients' brains confirm existence of very early developmental deficits. In congenital and chronic murine toxoplasmosis several cerebral anomalies also have been reported, and worldwide, approximately two billion people are chronically infected with T. "gondii"…

  4. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

    NARCIS (Netherlands)

    Lübbehusen, Jürgen; Thiel, Christian; Rind, Nina; Ungar, Daniel; Prinsen, Berthil H C M T; de Koning, Tom J; van Hasselt, Peter M; Körner, Christian

    2010-01-01

    Deficiency of subunit 6 of the conserved oligomeric Golgi (COG6) complex causes a new combined N- and O-glycosylation deficiency of the congenital disorders of glycosylation, designated as CDG-IIL (COG6-CDG). The index patient presented with a severe neurologic disease characterized by vitamin K

  5. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

    NARCIS (Netherlands)

    Kapusta, L.; Zucker, N.; Frenckel, G.; Medalion, B.; Gal, T.B.; Birk, E.; Mandel, H.; Nasser, N.; Morgenstern, S.; Zuckermann, A.; Lefeber, D.J.; Brouwer, A.P. de; Wevers, R.A.; Lorber, A.; Morava, E.

    2013-01-01

    Congenital disorders of glycosylation are a growing group of inborn errors of protein glycosylation. Cardiac involvement is frequently observed in the most common form, PMM2-CDG, especially hypertrophic cardiomyopathy. Dilated cardiomyopathy, however, has been only observed in a few CDG subtypes,

  6. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

    Science.gov (United States)

    Bostwick, Bret L; McLean, Scott; Posey, Jennifer E; Streff, Haley E; Gripp, Karen W; Blesson, Alyssa; Powell-Hamilton, Nina; Tusi, Jessica; Stevenson, David A; Farrelly, Ellyn; Hudgins, Louanne; Yang, Yaping; Xia, Fan; Wang, Xia; Liu, Pengfei; Walkiewicz, Magdalena; McGuire, Marianne; Grange, Dorothy K; Andrews, Marisa V; Hummel, Marybeth; Madan-Khetarpal, Suneeta; Infante, Elena; Coban-Akdemir, Zeynep; Miszalski-Jamka, Karol; Jefferies, John L; Rosenfeld, Jill A; Emrick, Lisa; Nugent, Kimberly M; Lupski, James R; Belmont, John W; Lee, Brendan; Lalani, Seema R

    2017-08-14

    De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts. Each individual underwent dysmorphology exam and comprehensive medical history review. We demonstrate greater than expected phenotypic heterogeneity, including 33% (3/9) of individuals without structural heart disease on echocardiogram. There was a high penetrance for a unique constellation of facial dysmorphism and global developmental delay, as well as less frequently seen renal and sacral anomalies. Two individuals had novel CDK13 variants (p.Asn842Asp, p.Lys734Glu), while the remaining seven unrelated individuals had a recurrent, previously published p.Asn842Ser variant. Summary of all variants published to date demonstrates apparent restriction of pathogenic variants to the protein kinase domain with clustering in the ATP and magnesium binding sites. Here we provide detailed phenotypic and molecular characterisation of individuals with pathogenic variants in CDK13 and propose management guidelines based upon the estimated prevalence of anomalies identified.

  7. [Percutaneous intervention in the correction of congenital heart deffects (DCC): experience in as UMAE].

    Science.gov (United States)

    Campos-García, Vicente; Ordóñez-Toquero, Guillermo; Monjaraz-Rodríguez, Sarain; Gómez-Conde, Eduardo

    Congenital heart defects are common in infants and adults, affecting quality of life if not corrected. Unlike open surgery, percutaneous intervention allows correction with a high success rate and speedy recovery. In Mexico, there are not enough studies to describe their efficacy and safety. A cohort study was conducted in the Hospital "Manuel Avila Camacho", in Puebla, Mexico, including 149 patients with congenital heart defects repaired by percutaneous intervention, recording data from clinical records. The following were documented: post-guided fluoroscopy, hemodynamic changes, cardiac catheterization drilling anatomical changes, and complications six months later such as infection or bleeding at the puncture site, device migration, endocarditis, or death. SPSS was used, using descriptive and inferential statistics. The patients' congenital heart defects treated were ductus arteriosus, atrial septal defect, and aortic coarctation, with ductus arteriosus being recorded as the most frequent congenital heart defect. Primary angioplasties were performed in 75% and stenting in the rest. Anatomical corrections of congenital defects were successful in 96.4% of patients (p < 0.01), with minimal adverse effects (p < 0.01). We conclude that our hospital has good efficacy and safety in percutaneous intervention, comparable to published reports.

  8. Children's experiences of congenital heart disease: a systematic review of qualitative studies.

    Science.gov (United States)

    Chong, Lauren S H; Fitzgerald, Dominic A; Craig, Jonathan C; Manera, Karine E; Hanson, Camilla S; Celermajer, David; Ayer, Julian; Kasparian, Nadine A; Tong, Allison

    2018-01-11

    We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 children, we identified 6 themes: disrupting normality (denying the diagnosis, oscillating between sickness and health, destabilizing the family dynamic), powerlessness in deteriorating health (preoccupation with impending mortality, vulnerability to catastrophic complications, exhaustion from medical testing), enduring medical ordeals (traumatized by invasive procedures, disappointed by treatment failure, displaced by transition, valuing empathy and continuity in care, overcoming uncertainty with information), warring with the body (losing stamina, distressing inability to participate in sport, distorted body image, testing the limits), hampering potential and goals (feeling disabled, unfair judgment and exclusion, difficulties with academic achievement, limiting attainment and maintenance of life milestones), and establishing one's own pace (demarcating disease from life, determination to survive, taking limitations in their stride, embracing the positives, finding personal enrichment, relying on social or spiritual support). Children with CHD feel vulnerable and burdened by debilitating physical symptoms, unpredictable complications, and discrimination. Clinicians may support patients by sharing recognition of these profound psychosocial consequences. What is Known: • CHD is associated with difficulties in learning and attention, school absenteeism, decreased endurance, poor body image, and peer socialization • What is lesser known is how young patients cope with the symptoms, prognostic uncertainty, and treatment burden What is New: • We found that children are challenged by lifestyle restrictions, fear of invasive procedures, impaired body

  9. Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)

    Energy Technology Data Exchange (ETDEWEB)

    Al-Maawali, Almundher A.; Schulze, Andreas [The Hospital for Sick Children, University of Toronto, Division of Clinical and Metabolic Genetics, Toronto (Canada); Miller, Elka [Children' s Hospital of Eastern Ontario, Department of Diagnostic Imaging, Ottawa (Canada); Yoon, Grace [The Hospital for Sick Children, University of Toronto, Division of Clinical and Metabolic Genetics, Toronto (Canada); The Hospital for Sick Children, University of Toronto, Division of Neurology, Toronto (Canada); Blaser, Susan I. [The Hospital for Sick Children, University of Toronto, Department of Diagnostic Imaging, Division of Paediatric Neuroradiology, Toronto (Canada)

    2014-02-15

    Infants with phosphomannomutase 2 - congenital disorder of glycosylation (PMM2-CDG), formerly known as CDG1a, present with failure to thrive, visceral dysfunction, thromboembolic events and developmental delays noted before 6 months of age. Diagnosis is often delayed due to the considerable variability in phenotype. Characteristic, but not universal, features include inverted nipples and abnormal subcutaneous fat pads. Neuroimaging performed in the first 4 months of life may be normal, although cerebellar and brainstem atrophy is usual after 3 months of age. Cerebellar and brainstem atrophy have been noted as early as 11 days of life. We present an infant whose typical subcutaneous and retroperitoneal fat deposits were clinically occult, but identified on body MRI. (orig.)

  10. P2-29: Comparing the Other-Race-Effect and Congenital Prosopagnosia Using a Three-Experiment Test Battery

    Directory of Open Access Journals (Sweden)

    Janina Esins

    2012-10-01

    Full Text Available Congenital prosopagnosia, an innate impairment in recognizing faces, as well as the other-race-effect, the disadvantage in recognizing faces of foreign races, both influence face recognition abilities. Here we compared both phenomena by testing three groups: German congenital prosopagnosics (cPs, unimpaired German, and unimpaired South Korean participants (n = 23 per group, on three tests with Caucasian faces. First we ran the Cambridge Face Memory Test (Duchaine & Nakayama, 2006 Neuropsychologia 44 576–585. Participants had to recognize Caucasian target faces in a 3AFC task. German controls performed better than Koreans (p = .009 who performed better than prosopagnosics (p = .0001. Variation of the individual performances was larger for cPs than for Koreans (p = .028. In the second experiment, participants rated the similarity of Caucasian faces (in-house 3D face-database which differed parametrically in features or second order relations (configuration. We found differences between sensitivities to change type (featural or configural, p = 0 and between groups (p = .005 and an interaction between both factors (p = .019. During the third experiment, participants had to learn exemplars of artificial objects (greebles, natural objects (shells, and faces and recognize them among distractors. The results showed an interaction (p = .005 between stimulus type and participant group: cPs where better for non-face stimuli and worse for face stimuli than the other groups. Our results suggest that congenital prosopagnosia and the other-race-effect affect face perception in different ways. The broad range in performance for the cPs directs the focus of our future research towards looking for different forms of congenital prosopagnosia.

  11. Surgery or implantable hearing devices in children with congenital aural atresia: 25 years of our experience.

    Science.gov (United States)

    Jovankovičová, Andrea; Staník, Roman; Kunzo, Samuel; Majáková, Lucia; Profant, Milan

    2015-07-01

    Congenital aural atresia and ear deformities have been the subject of serious discussions for centuries. These malformations are associated with significant aesthetic and functional problems. Outcome of the surgical solution is rarely optimal. Despite the gradual improvement of surgical techniques the surgery still remains associated with very limited short-term and mainly long-term functional outcome. Therefore, the priority treatment in modern otology becomes implantable devices--BAHA, Bonebridge and active middle ear implants. The functional and aesthetic outcomes of aural atresia reconstruction performed at Pediatric ENT Department of Children's University Hospital were retrospectively evaluated and compared with the results prospectively obtained from implantable hearing devices (BAHA, Vibrant Soundbridge, Bonebridge), which have been implanted in patients with aural atresia at Department of ORL HNS, University Hospital Bratislava. Aural atresia reconstruction has been performed in 34 patients during last 25 years. Results of the surgery could be viewed as excellent only in three patients (gain above 30 dB). Air conduction threshold has decreased after the surgery in seven patients, and in two cases total deafness occurred after the surgery. Patients gain on average 12 dB in auditory threshold after surgery. Hearing devices were implanted to the group of 11 children in order to improve their hearing. All of them were the patients with bilateral aural atresia. After implantation a significant improvement in hearing threshold occurred in all children (30-35 dB on average). Together with results of air conduction threshold in patient with aural atresia before and after surgery and implantation we also present a standard deviation. The functional outcome of implantable hearing devices in patients with bilateral aural atresia clearly dominates over the traditional reconstructive surgery. Aesthetic results in pinna deformity management remain a major concern for

  12. Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation.

    Science.gov (United States)

    Bruneel, Arnaud; Habarou, Florence; Stojkovic, Tanya; Plouviez, Grégory; Bougas, Laure; Guillemet, Fanny; Brient, Nadine; Henry, Dominique; Dupré, Thierry; Vuillaumier-Barrot, Sandrine; Seta, Nathalie

    2017-07-01

    Congenital disorders of glycosylation (CDGs) are rare inherited disorders affecting glycosylation of proteins and lipids and sharing very heterogeneous multivisceral symptoms. The biochemical screening of these diseases is currently limited to electrophoresis or HPLC separation/quantification of serum transferrin glycoforms and is relatively frequently hampered by genetic polymorphism. Further, it has been shown that transferrin glycosylation can be very poorly affected in confirmed CDGs. We developed a fast and simple two-dimensional (2-DE) Western-blot analysis applied to the simultaneous detection of various serum glycoproteins, i.e. haptoglobin, α1-anti-trypsin, transferrin and α1-acid glycoprotein, and applied it to a large cohort of CDGs and secondary glycosylation disorders. When separated using 2-DE, haptoglobin β glycoforms showed clear abnormalities in all interpretable CDG type I and CDG type II patterns. Although secondary glycosylation defects such as alcoholism, untreated fructosemia and bacterial neuraminidase remain to be excluded, we showed that 2-DE pattern of haptoglobin β glycoforms thus constitute a very reliable additional biomarker of all types of CDGs. Coupled with common screening techniques and glycans mass spectrometry, it can orientate and facilitate the way towards CDG molecular diagnostic. Copyright © 2017. Published by Elsevier B.V.

  13. A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome

    Directory of Open Access Journals (Sweden)

    Yasser Al-Sarraj BSC

    2014-09-01

    Full Text Available A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to q13.2 that would contain the gene responsible for the disorder. Ten positional candidate genes were screened for pathogenic mutations, but none were identified. Next-generation exome sequencing in one affected individual identified a novel SRD5A3 missense mutation c.T744G/p.F248L, which was subsequently confirmed by Sanger sequencing, suggesting a congenital disorder of glycosylation type IQ defect. Isoelectric focusing of serum transferrin showed a type I pattern indicative of an N-glycan assembly defect. This is a novel pathogenic mutation and the first SRD5A3 missense mutation as all others are protein-truncating mutations.

  14. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  15. The Experiences of University Students with a Mood Disorder

    Science.gov (United States)

    Demery, Rachel; Thirlaway, Kathryn; Mercer, Jenny

    2012-01-01

    Mood disorders typically materialise in young adulthood, a life-stage when many enter university. However, Padron notes that few studies have examined the experiences of students with a mood disorder. The current study offers a thematic analysis of semi-structured interviews with five university students who had personal experience of such a…

  16. Anomalous subjective experiences in schizophrenia, bipolar disorder, and unipolar depression.

    Science.gov (United States)

    Kim, Jong-Hoon; Lee, Ju-Hee; Lee, Jinyoung

    2013-07-01

    The purpose of the present study was to compare anomalous subjective experiences in patients with schizophrenia, bipolar disorder, and unipolar depression, in order to elucidate differences in subjective experiences and examine their potential clinical correlates in schizophrenia and mood disorders. The subjective experiences of 78 outpatients with schizophrenia (n=32), bipolar disorder (n=24) and unipolar depression (n=22), and 32 healthy controls were comprehensively assessed using the Frankfurt Complaint Questionnaire (FCQ). The FCQ total score was significantly higher in the schizophrenia and depression groups than in the healthy control group. There were no significant differences in the FCQ total or subscale scores among the schizophrenia, unipolar depression, and bipolar disorder groups. In the schizophrenia group, the Positive and Negative Syndrome Scale negative factor score was a significant negative predictor of the severity of subjective experiences assessed by the FCQ total score. Disruption of subjective experiences in patients with unipolar depression was associated with greater severity of depressive symptoms and younger age. In the bipolar disorder group, women reported more disruptions in subjective experience. Anomalous subjective experiences measured by the FCQ are not specific to schizophrenia, and the severity of these experiences in unipolar depression is substantially high. The finding of a dissimilar pattern of predictors of subjective experiences across different diagnostic groups suggests the complexity and variety of factors contributing to anomalous subjective experiences in schizophrenia and mood disorders. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia

    OpenAIRE

    Kuzmanović Miloš; Kunishima Shinji; Putnik Jovana; Stajić Nataša; Paripović Aleksandra; Bogdanović Radovan

    2014-01-01

    Introduction. The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and variable levels of deafness, disturbances of vision and renal function impairment. A common genetic background of these disorders are mutations in MYH9 gene, coding for the nonmuscle myosin heavy chain IIA. Differential dia...

  18. Implantable cardioverter defibrillator therapy in pediatric and congenital heart disease patients: a single tertiary center experience in Korea

    Directory of Open Access Journals (Sweden)

    Bo Kyung Jin

    2013-03-01

    Full Text Available Purpose: The use of implantable cardioverter defibrillators (ICDs to prevent sudden cardiac death is increasing in children and adolescents. This study investigated the use of ICDs in children with congenital heart disease. Methods: This retrospective study was conducted on the clinical characteristics and effectiveness of ICD implantation at the department of pediatrics of a single tertiary center between 2007 and 2011. Results: Fifteen patients underwent ICD implantation. Their mean age at the time of implantation was 14.5±5.4 years (range, 2 to 22 years. The follow-up duration was 28.9±20.4 months. The cause of ICD implantation was cardiac arrest in 7, sustained ventricular tachycardia in 6, and syncope in 2 patients. The underlying disorders were as follows: ionic channelopathy in 6 patients (long QT type 3 in 4, catecholaminergic polymorphic ventricular tachycardia [CPVT] in 1, and J wave syndrome in 1, cardiomyopathy in 5 patients, and postoperative congenital heart disease in 4 patients. ICD coils were implanted in the pericardial space in 2 children (ages 2 and 6 years. Five patients received appropriate ICD shock therapy, and 2 patients received inappropriate shocks due to supraventricular tachycardia.During follow-up, 2 patients required lead dysfunction-related revision. One patient with CPVT suffered from an ICD storm that was resolved using sympathetic denervation surgery. Conclusion: The overall ICD outcome was acceptable in most pediatric patients. Early diagnosis and timely ICD implantation are recommended for preventing sudden death in high-risk children and patients with congenital heart disease.

  19. A multidisciplinary treatment of patients with craniofacial disorders. Own experience.

    Science.gov (United States)

    Wojtyńska, Elżbieta; Bączkowski, Bohdan; Przybyłowska, Dorota; Cierech, Mariusz; Mierzwińska-Nastalska, Elżbieta; Zadurska, Małgorzata

    2015-01-01

    Oral rehabilitation of patients with craniofacial disorders is a great challenge and needs a multidisciplinary approach. This is due to the diverse etiology of the disease and severity of changes in tissues and organs. Congenital absence of tooth germs manifested in the form of oligodontia or anodontia, the presence of persistent deciduous teeth in ectodermal dysplasia (ED), cleft lip and hard palate or cancer-induced changes in the tissues of the stomatognathic system are the most common causes of these disorders. The observed abnormalities are responsible for functional disorders of musculo-articular system, speech and chewing. In addition, noticeable adverse changes in the appearance have a huge psychological impact on patients and their well-being. Therefore, the treatment of these medical conditions should begin in childhood and comprise interdisciplinary rehabilitation, involving prosthetics and orthodontics supported by surgery, as well as speech or laryngological therapy. In this paper the interdisciplinary treatment of patients with oral hard and soft tissues disorders during ectodermal dysplasia is discussed. Early oral rehabilitation can restore lost or abnormally shaped tissues and proper functions of the masticatory system. It can also have a positive impact on further physical and psychological development of patients.

  20. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

    NARCIS (Netherlands)

    Wortmann, S.B.; Zietkiewicz, S.; Kousi, M.; Szklarczyk, R.J.; Haack, T.B.; Gersting, S.W.; Muntau, A.C.; Rakovic, A.; Renkema, G.H.; Rodenburg, R.J.; Strom, T.M.; Meitinger, T.; Rubio-Gozalbo, M.E.; Chrusciel, E.; Distelmaier, F.; Golzio, C.; Jansen, J.H.; Karnebeek, C. van; Lillquist, Y.; Lucke, T.; Ounap, K.; Zordania, R.; Yaplito-Lee, J.; Bokhoven, H. van; Spelbrink, J.N.; Vaz, F.M.; Pras-Raves, M.; Ploski, R.; Pronicka, E.; Klein, C.; Willemsen, M.A.A.P.; Brouwer, A.P.M. de; Prokisch, H.; Katsanis, N.; Wevers, R.A.

    2015-01-01

    We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder,

  1. Twenty Years of Adult Congenital Heart Surgery: A Single-Center African Experience.

    Science.gov (United States)

    Long, Michael A; Smit, Francis E; Brown, Stephen C

    2016-09-01

    Lack of data exists on the surgical management of adult congenital heart disease on the African continent. This study was undertaken to describe the clinical profile and surgical outcome of adult patients with congenital heart disease undergoing surgery in a single-center African study population. A retrospective medical chart review of consecutive adult patients (≥18 years) undergoing congenital heart surgery between October 1995 and December 2015 at our institution was undertaken. We described cardiac diagnosis, diagnostic complexity, risk profile, and surgical morbidity and mortality. Data were collected of 233 surgical procedures performed in 219 patients (45.6% males). The most common diagnostic category was septal defects (41.2%), followed by right heart lesions (17.2%), left heart lesions (12.4%), thoracic arteries (9.0%), and conduit failure (6.9%). Twenty-four percent of patients presented in functional class III or IV, and 46% of patients met the criteria for the simple Bethesda diagnostic class. Preoperative risk factors were identified in 19.8% of patients. Corrective surgery was performed in 71.7% of cases, reoperative surgery in 27.6%, and palliative surgery in 0.8%. Right ventricle to pulmonary artery conduit placement comprised 53.1% of reoperations. The overall hospital mortality was 1.7%. Postoperative complications occurred in 26.3% of cases. This study presents a detailed description of this emerging population in a developing world context. Our outcomes data suggest that adult congenital heart disease surgery is feasible in a Southern African tertiary referral center with low operative mortality and acceptable morbidity. © The Author(s) 2016.

  2. Congenital heart defects and associated comorbidities – 5 years of experience

    OpenAIRE

    Adrian Hruşcă; Simona Căinap; Andreea L. Răchişan; Tudor L. Pop; Manuel Chira; Simona Opriţa; Nicolae Miu; Mariana Andreica

    2013-01-01

    Objective: Cardiovascular malformations are a common cause of neonatal and infant death. We undertook this study to determine the prevalence and spectrum of cardiovascular malformations in a pediatric population, the prevalence of other associated anomalies and genetic syndromes among infants with cardiovascular malformations. Material and Methods: We based the study on a pediatric population admitted at the 2nd Clinic of Pediatrics, for a period of 5 years, diagnosed with a congenit...

  3. Dental caries experience in children with congenital heart disease: a case-control study.

    Science.gov (United States)

    Stecksén-Blicks, C; Rydberg, A; Nyman, L; Asplund, S; Svanberg, C

    2004-03-01

    To compare the dental health of a group of children with complex congenital heart disease with that of age and gender matched healthy controls. Case-control study. Faculty of Medicine and Odontology/Pediatric cardiology and Pedodontics, Umeå University, Sweden. All the cases and their controls lived in the county of Västerbotten in northern Sweden. Each group comprised 41 children with a mean age of 6.5 years. Data were collected from medical and dental records while all bitewing radiographs were read separately by one of the authors. Children with congenital heart disease had significantly more caries in their primary teeth than the control group. The mean dmfs-value was 5.2 +/- 7.0 in the cardiac group compared to 2.2 +/- 3.5 in the control group (P 0.05). The children with congenital heart disease had received more caries prevention based on the use of fluorides than the control group. There was a significant correlation between the number of fluoride varnish treatments and the dmfs value of the child (r = 0.411, P < 0.01). Fifty-two per cent of the children in the cardiac group had been prescribed fluoride tablets on one or more occasions compared to 17% in the control group (P < 0.01). Number of months on digoxin medication and the dmfs-value had a significant correlation (r = 0.368, P < 0.05). Ten of the children had been on digoxin medication between 6 and 87 months; this subgroup had a mean dmfs-value of 10.1 +/- 8.5. Swedish children with complex congenital heart disease have poorer dental health than healthy age and gender matched controls in spite of intensive preventive efforts. In many cases, intervention had been given when caries were present. A closer cooperation between paediatric cardiology and paediatric dentistry is needed.

  4. Sleep disordered breathing (SDB) experiences associated with ...

    African Journals Online (AJOL)

    SDB) which is largely undiagnosed in the population. Information on SDB experiences is needed to target high-risk individuals that may benefit from treatment of snoring. Objective: This study compares the experience of the nighttime and ...

  5. Psychiatric Approaches for Disorders of Sex Development: Experience of a Multidisciplinary Team

    Science.gov (United States)

    Özbaran, Burcu; Özen, Samim; Gökşen, Damla; Korkmaz, Özlem; Onay, Hüseyin; Özkınay, Ferda; Çoğulu, Özgür; Erermiş, Serpil; Köse, Sezen; Avanoğlu, Ali; Ulman, İbrahim; Darcan, Şükran

    2013-01-01

    Objective: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD. Methods: The study group consisted of 51 patients diagnosed with DSD. The Kiddie-Schedule for Affective Disorders and Schizophrenia, Wechsler Intelligence Scale for Children-Revised, Draw a Person Test and Children’s Apperception Test, and the Clinical Global Impression Scale (CGIS) were used for psychiatric evaluations. Results: The mean age of the patients was 7.8 years (median: 7.8; min: 1.0; max: 18.0). Genetic evaluation showed 46,XX configuration in 15 patients (29.4%) and 46,XY in 35 (68.6%). One patient (2.0%) was diagnosed to have a sex chromosome disorder. Forty patients (78.4%) had no problems with their given gender identity and gender role. Thirty-four (66.7%) patients had normal intellectual capacity. Twenty-eight (54.9%) patients did not have any psychiatric problem. Depression, anxiety disorders, attention deficit/hyperactivity disorder, and adjustment disorders were the common diagnoses. The mean score of symptom severity on CGIS-severity-baseline was 6.15±0.68 and after one year, it was 1.46±0.51 (Z=-3.236 p=0.001). The mean score of CGI–Improvement was 1.23±0.44. Conclusion: It is important to identify and treat the psychiatric disorders encountered in patients with DSD. A psychiatrist needs to be included in the professional team following these patients. Examination and observation results need to be shared by holding periodic team meetings to establish a wholesome point of view for every unique child. Conflict of interest:None declared. PMID:24379031

  6. PROFILE OF CONGENITAL HEART DISEASE AS DIAGNOSED BY FETAL ECHOCARDIOGRAPHY, A TERTIARY CARE EXPERIENCE

    Directory of Open Access Journals (Sweden)

    Venkata Arunavalli

    2015-09-01

    Full Text Available BACKGROUND : The incidence of congenital heart disease is 0.8 in 1000 live births. Fetal echo cardiography offers a chance to detect most hemodynamically significant congenital heart disease in early pregnancy, so that their management prenatally, at birth and postnatally can be planned better. OBJECTIVES : To analyze the profile of congenital heart disease as diagnosed by fetal echocardiography, in pregnant women referred to a tertiary care centre. MATERIAL AND METHODS : The study design is retrospective, observational study. A total number of 583 fetal echo studies were performed at our C entre from January 1 st 2014 to June 30 th 2015. All studies were performed by a single operator. The main i ndications for the referral were: inability to visualize a clear four chamber view on obstetric scan, echogenic focus in LV cavity, maternal diabetes, family history of congenital heart disease, and maternal request. Statistical analysis was performed usin g statistical package for social sciences SPSS: CHICAGO, 3L VSA program. All the women with abnormal FE studies, except ones with complex CHDS were instructed to bring the new borns for 2D echo within 1 – 2 days after birth. RESULTS : Overall, significant C HD was found in 5.4% of FE studies (32 out of 583 cases . The most common indications for referral were: inability to visualize a clear four chamber view on obstetric scan, echogenic focus in LV cavity, maternal diabetes, family history of congenital heart disease, and maternal request. The risk factors with highest yield of CHD were poly hydroamnios and maternal diabetes. The commonest lesion found was ostium secundum ASD. There was a significant correlation between the presence of echogenic focus prenatal ly and small to moderate sized ostium secundum ASD after birth. CONCLUSION : Our data suggests that the risk factors with highest yield of CHD are polyhydromnios and meternal diabetes. Presence of echogenic focus in the LV in FE is associated

  7. Association Between Fetal Congenital Heart Defects and Maternal Risk of Hypertensive Disorders of Pregnancy in the Same Pregnancy and Across Pregnancies.

    Science.gov (United States)

    Boyd, Heather Allison; Basit, Saima; Behrens, Ida; Leirgul, Elisabeth; Bundgaard, Henning; Wohlfahrt, Jan; Melbye, Mads; Øyen, Nina

    2017-07-04

    Both pregnant women carrying fetuses with heart defects and women with hypertensive disorders of pregnancy often exhibit angiogenic imbalances, suggesting that the same mechanisms are involved in the pathogenesis of the former and the pathophysiology of the latter. We conducted a register-based cohort study to determine whether offspring congenital heart defects are associated with an increased risk of hypertensive disorders of pregnancy and whether the mechanisms driving any association are primarily maternal or fetal. Among singleton pregnancies without chromosomal abnormalities lasting ≥20 weeks in Denmark from 1978 to 2011 (n= 1 972 857), we identified pregnancies complicated by offspring congenital heart defects or early preterm preeclampsia, late preterm preeclampsia, term preeclampsia, and gestational hypertension. We used polytomous logistic regression to estimate odds ratios (ORs) for associations between offspring congenital heart defects and maternal hypertensive disorders of pregnancy overall and for specific heart defects. Offspring congenital heart defects were strongly associated with early preterm preeclampsia (OR, 7.00; 95% confidence interval [CI], 6.11-8.03) and late preterm preeclampsia (OR, 2.82; 95% CI, 2.38-3.34) in the same pregnancy and weakly associated with term preeclampsia (OR, 1.16; 95% CI, 1.06-1.27), but they were not associated with gestational hypertension (OR, 1.07; 95% CI, 0.92-1.25). Association strengths were consistent across heart defect types. Offspring congenital heart defects in a previous pregnancy were also strongly associated with preterm preeclampsia in subsequent pregnancies (early preterm preeclampsia: OR, 2.37; 95% CI, 1.68-3.34; late preterm preeclampsia: OR, 2.04; 95% CI, 1.52-2.75) but were only modestly associated with term preeclampsia and not associated with gestational hypertension. Similarly, preterm preeclampsia in a previous pregnancy, but not term preeclampsia or gestational hypertension, was

  8. Association between Fetal Congenital Heart Defects and Maternal Risk of Hypertensive Disorders of Pregnancy in the Same Pregnancy and Across Pregnancies

    DEFF Research Database (Denmark)

    Boyd, Heather Allison; Basit, Saima; Behrens, Ida

    2017-01-01

    Background: Both pregnant women carrying fetuses with heart defects and women with hypertensive disorders of pregnancy often exhibit angiogenic imbalances, suggesting that the same mechanisms are involved in the pathogenesis of the former and the pathophysiology of the latter. We conducted...... a register-based cohort study to determine whether offspring congenital heart defects are associated with an increased risk of hypertensive disorders of pregnancy and whether the mechanisms driving any association are primarily maternal or fetal. Methods: Among singleton pregnancies without chromosomal...... abnormalities lasting ≥20 weeks in Denmark from 1978 to 2011 (n= 1 972 857), we identified pregnancies complicated by offspring congenital heart defects or early preterm preeclampsia, late preterm preeclampsia, term preeclampsia, and gestational hypertension. We used polytomous logistic regression to estimate...

  9. Desmopressin (DDAVP) in the management of patients with congenital bleeding disorders.

    Science.gov (United States)

    Leissinger, C; Carcao, M; Gill, J C; Journeycake, J; Singleton, T; Valentino, L

    2014-03-01

    Bleeding disorders, including haemophilia, von Willebrand disease, and platelet function abnormalities pose a substantial, ongoing management challenge. Patients with these disorders not only require treatment during bleeding events but also need effective management strategies to prepare for events ranging from minor dental procedures to major surgery and childbirth. Moreover, women with bleeding disorders often require ongoing treatment to prevent menorrhagia during childbearing years. Desmopressin (DDAVP), a synthetic derivative of the antidiuretic hormone l-arginine vasopressin, has become a well-established tool for the management of patients with bleeding disorders in a variety of clinical settings. However, despite the widespread use of DDAVP, the available clinical evidence on its efficacy and safety in these settings is limited, and there has not been a recent comprehensive review of its role in the clinical management of patients with bleeding disorders. As such, this article provides a review of the mechanism of action and pharmacokinetic properties of DDAVP, followed by a concise summary of the available evidence for its use in the treatment and prevention of bleeding. © 2013 John Wiley & Sons Ltd.

  10. Experiences of women living with borderline personality disorder ...

    African Journals Online (AJOL)

    There is limited understanding of the experiences of women living with borderline personality disorder. It was therefore decided to discover how women living with this disorder would tell their life story. For the researcher, who worked in a psychotherapy ward where most women were living with borderline personality ...

  11. Gender development in women with congenital adrenal hyperplasia as a function of disorder severity.

    Science.gov (United States)

    Meyer-Bahlburg, Heino F L; Dolezal, Curtis; Baker, Susan W; Ehrhardt, Anke A; New, Maria I

    2006-12-01

    Prenatal-onset classical congenital adrenal hyperplasia (CAH) in 46,XX individuals is associated with variable masculinization/defeminization of the genitalia and of behavior, presumably both due to excess prenatal androgen production. The purpose of the current study was threefold: (1) to extend the gender-behavioral investigation to the mildest subtype of 46,XX CAH, the non-classical (NC) variant, (2) to replicate previous findings on moderate and severe variants of 46,XX CAH using a battery of diversely constructed assessment instruments, and (3) to evaluate the utility of the chosen assessment instruments for this area of work. We studied 63 women with classical CAH (42 with the salt wasting [SW] and 21 with the simple virilizing [SV] variant), 82 women with the NC variant, and 24 related non-CAH sisters and female cousins as controls (COS). NC women showed a few signs of gender shifts in the expected direction, SV women were intermediate, and SW women most severely affected. In terms of gender identity, two SW women were gender-dysphoric, and a third had changed to male in adulthood. All others identified as women. We conclude that behavioral masculinization/defeminization is pronounced in SW-CAH women, slight but still clearly demonstrable in SV women, and probable, but still in need of replication in NC women. There continues a need for improved instruments for gender assessment.

  12. Possession experiences in dissociative identity disorder: a preliminary study.

    Science.gov (United States)

    Ross, Colin A

    2011-01-01

    Dissociative trance disorder, which includes possession experiences, was introduced as a provisional diagnosis requiring further study in the Diagnostic and Statistical Manual of Mental Disorders (4th ed.). Consideration is now being given to including possession experiences within dissociative identity disorder (DID) in the Diagnostic and Statistical Manual of Mental Disorders (5th ed.), which is due to be published in 2013. In order to provide empirical data relevant to the relationship between DID and possession states, I analyzed data on the prevalence of trance, possession states, sleepwalking, and paranormal experiences in 3 large samples: patients with DID from North America; psychiatric outpatients from Shanghai, China; and a general population sample from Winnipeg, Canada. Trance, sleepwalking, paranormal, and possession experiences were much more common in the DID patients than in the 2 comparison samples. The study is preliminary and exploratory in nature because the samples were not matched in any way.

  13. Augmentative and Alternative Communication Applications for Persons with Severe Congenital Communication Disorders: An Introduction.

    Science.gov (United States)

    Mirenda, Pat; Mathy-Laikko, Pamela

    1989-01-01

    The paper presents an overview of issues in augmentative and alternative communication as well as basic information on etiology, prevalence, and associated communication characteristics for the following conditions: cerebral palsy, mental retardation, autism, developmental verbal apraxia, and specific language disorders. (DB)

  14. Learning From Experience: Improving Early Tracheal Extubation Success After Congenital Cardiac Surgery.

    Science.gov (United States)

    Winch, Peter D; Staudt, Anna M; Sebastian, Roby; Corridore, Marco; Tumin, Dmitry; Simsic, Janet; Galantowicz, Mark; Naguib, Aymen; Tobias, Joseph D

    2016-07-01

    The many advantages of early tracheal extubation following congenital cardiac surgery in young infants and children are now widely recognized. Benefits include avoiding the morbidity associated with prolonged intubation and the consequences of sedation and positive pressure ventilation in the setting of altered cardiopulmonary physiology. Our practice of tracheal extubation of young infants in the operating room following cardiac surgery has evolved and new challenges in the arena of postoperative sedation and pain management have appeared. Review our institutional outcomes associated with early tracheal extubation following congenital cardiac surgery. Inclusion criteria included all children less than 1 year old who underwent congenital cardiac surgery between October 1, 2010, and October 24, 2013. A total of 416 patients less than 1 year old were included. Of the 416 patients, 234 underwent tracheal extubation in the operating room (56%) with 25 requiring reintubation (10.7%), either immediately or following admission to the cardiothoracic ICU. Of the 25 patients extubated in the operating room who required reintubation, 22 failed within 24 hours of cardiothoracic ICU admission; 10 failures were directly related to narcotic doses that resulted in respiratory depression. As a result of this review, we have instituted changes in our cardiothoracic ICU postoperative care plans. We have developed a neonatal delirium score, and have adopted the "Kangaroo Care" approach that was first popularized in neonatal ICUs. This provision allows for the early parental holding of infants following admission to the cardiothoracic ICU and allows for appropriately selected parents to sleep in the same beds alongside their postoperative children.

  15. Nuss repair of pectus excavatum after surgery for congenital heart disease: experience from a single institution.

    Science.gov (United States)

    Li, Shuai; Tang, Shao-tao; Tong, Qiangsong; Yang, Ying; Yang, Li; Li, Shiwang; Pu, Jiarui

    2014-08-01

    Pectus excavatum developing after surgery for congenital heart disease has its own clinical characteristics. The present study aimed to present our technique and outcomes for the Nuss procedure in the repair of these cases. We conducted a retrospective study of all patients who had not been diagnosed as pectus excavatum preoperatively but subsequently had developed pectus excavatum after surgery for congenital heart disease from February 2005 to November 2012. The Nuss procedure was applied using a series of perioperative management techniques. The data relating to the surgical technique, complications, and outcomes were analyzed. The clinical evaluation was performed using the Nuss criteria. A total of 30 cases (14 boys and 16 girls) were included. The mean operative time was 73.5 minutes (range, 58-82). The mean length of hospital stay was 6.0 days. Complications occurred in 5 patients (16.7%), including asymptomatic pneumothorax, hematoma in the wound, pericardial penetration, and bar displacement. The mean follow-up period was 32 months (range, 9-60). Initially, 29 patients (96.7%) had excellent results, and 1 patient had a good result. The mean point of bar removal was 35.8 months (range, 30-39) after implantation. The postoperative results after bar removal in 17 patients were also recorded, including excellent results in 14 (82.4%), good results in 2 (11.7%), and a fair result in 1 patient. The Nuss procedure has been shown to be a safe and effective approach for the repair of pectus excavatum after surgery for congenital heart disease, although dissection of substernal adhesions can increase the risk of heart injury. Copyright © 2014 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  16. Diagnostic value of CT in congenital disorders of the great vessels

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    Yamada, Zenju; Morooka, Nobuhiro; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki (Chiba Univ. (Japan). School of Medicine); Yoshida, Hideo

    1983-09-01

    Computed tomographic (CT) studies of the cardiovascular system were performed on 850 cases at our institute during the last five years. The aorta was clearly demonstrated by CT from the aortic root to the bifurcation of the iliac artery, and in most cases the main aortic branches including the coronary, brachiocephalic, common carotid, subclavian, celiac, superior mesenteric, renal and iliac arteries were satisfactorily evaluated. Therefore CT renders us encouraging to detect the abnormality of these arteries. This paper described the CT finings of congenital anomalies of the great vessels in 14 patients with 16 anomalies including two cases of l-corrected transposition of the great vessels, two of double aortic arch, one of aneurysm of the sinus of Valsalva, six of patent ductus arteriosus (PDA) and five of right-sided descending aorta, two of which had double aortic arch aforementioned and the remaining three had dextrocardia. The diagnosis of these abnormalities except for PDA were made only by CT. For instance, l-corrected transposition of the great vessels was diagnosed easily by observing the side-to-side relationship of the great vessels, the aorta is situated to the left and anterior to the pulmonary artery. In the case of double aortic arch, not only the left and right aortic arch, but also the degree of narrowing as well as compression of the trachea and esophagus were well evaluated. The diagnosis of aneurysm of the sinus of Valsalva was made by the characteristically marked dilatation of the aorta at the level of sinus of Valsalva on CT. Only in one case of PDA, the ductus connecting the descending aorta to the left pulmonary artery was demonstrated by CT. Plain CT was well tolerable, but enhanced CT was much more informative to detect cardiovascular abnormalities, and moreover, dynamic CT was rewarding in the detailed evaluation of blood flow in the cardiovascular system.

  17. From Knowing Nothing to Knowing What, How and Now: Parents' Experiences of Caring for their Children With Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Lundberg, Tove; Lindström, Anders; Roen, Katrina; Hegarty, Peter

    2017-06-01

    This study investigates various kinds of knowing that European parents use when caring for their children with congenital adrenal hyperplasia (CAH). Semi-structured qualitative interviews with 20 parents of 22 children with CAH. Parents emphasized the importance of knowing what CAH is and what support their child needs, but also knowing how to cope and make sense of the new situation, how to attend to their child's medical needs as well as how to talk to their child. Parents also reported challenges related to connecting with their social network, experiences of emergency care, and how to help their children become independent. These challenges require knowing now : being able to respond appropriately to unique circumstances. Parents experience diverse challenges that may moderate the effects of the diagnosis on children's well-being. Parenting children with CAH requires the development of knowing that goes beyond medical information.

  18. A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

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    Jaime Chu

    2013-01-01

    Individuals with congenital disorders of glycosylation (CDG have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to CDG are not well understood. Synthesis of the lipid-linked oligosaccharide (LLO, which serves as the sugar donor for the N-glycosylation of secretory proteins, requires conversion of fructose-6-phosphate to mannose-6-phosphate via the phosphomannose isomerase (MPI enzyme. Individuals who are deficient in MPI present with bleeding, diarrhea, edema, gastrointestinal bleeding and liver fibrosis. MPI-CDG patients can be treated with oral mannose supplements, which is converted to mannose-6-phosphate through a minor complementary metabolic pathway, restoring protein glycosylation and ameliorating most symptoms, although liver disease continues to progress. Because Mpi deletion in mice causes early embryonic lethality and thus is difficult to study, we used zebrafish to establish a model of MPI-CDG. We used a morpholino to block mpi mRNA translation and established a concentration that consistently yielded 13% residual Mpi enzyme activity at 4 days post-fertilization (dpf, which is within the range of MPI activity detected in fibroblasts from MPI-CDG patients. Fluorophore-assisted carbohydrate electrophoresis detected decreased LLO and N-glycans in mpi morphants. These deficiencies resulted in 50% embryonic lethality by 4 dpf. Multi-systemic abnormalities, including small eyes, dysmorphic jaws, pericardial edema, a small liver and curled tails, occurred in 82% of the surviving larvae. Importantly, these phenotypes could be rescued with mannose supplementation. Thus, parallel processes in fish and humans contribute to the phenotypes caused by Mpi depletion. Interestingly, mannose was only effective if provided prior to 24 hpf. These data provide insight into treatment efficacy

  19. The prevalence of congenital heart defects in infants with cholestatic disorders of infancy: a single-centre study.

    Science.gov (United States)

    Fattouh, Aya M; Mogahed, Engy A; Abdel Hamid, Nehal; Sobhy, Rodina; Saber, Noha; El-Karaksy, Hanaa

    2016-09-01

    There is deficiency of data about congenital heart defects (CHDs) in cholestatic disorders of infancy other than Alagille syndrome (AGS). We aimed to define the prevalence and types of CHDs in infants with various causes of cholestatic disorders of infancy. This cross-sectional study was conducted on 139 infants presenting with cholestasis whether surgical or non-surgical. The study was carried out at the Pediatric Hepatology Unit, Cairo University Children's Hospital, Egypt. Full examination and investigations were done in an attempt to reach an aetiologic diagnosis for cholestasis, in addition to a comprehensive echocardiographic study. The age at the onset of cholestasis ranged from 1 day to 7 months. Males constituted 61.2%. Biliary atresia (BA) was diagnosed in 39 patients (28%), AGS in 16 patients (11.5%), 27 patients had miscellaneous diagnoses and 57 cases had indeterminate aetiology. CHDs were detected in 55 patients (39.5%). Shunt lesions were detected in 24 patients (43.6%), pulmonary stenosis in 18 patients (32.7%) and combined lesions in 9 patients (16.4%). Three patients (5.5%) had abnormal cardiac situs. Only seven patients had clinical presentation suggestive of CHD. CHDs were detected in 14 patients with BA (35.9%), 15 patients with AGS (93.7%) and 26 patients in the remaining group (30.9%). CHDs are not uncommon among cholestatic infants and are mostly asymptomatic. Echocardiographic examination of cholestatic infants is recommended particularly for patients with BA before undergoing hepatic portoenterostomy as presence of CHD may impact the anaesthetic planning and affect the outcome of hepatobiliary surgery. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  20. Congenital Lumbar Hernia: A 15-Year Experience at a Single Tertiary Centre

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    K. N. Rattan

    2016-01-01

    Full Text Available Aim. Congenital lumbar hernia is an uncommon anomaly with only few cases reported in the English literature. This study was done to study the incidence, age at presentation, sex, associated anomalies, surgical management, and postoperative morbidity and mortality of congenital lumbar hernia in pediatric patients. Methods. Retrospective analysis of all patients of CLH over a period of 15 years (January 2000 to December 2015 was analyzed. Results. A total of 14 patients were encountered in this series. All presented within first 2 years of age. 12 were males and 2 were females. All of them presented with swelling in lumbar region. 13 were unilateral and 1 was bilateral. Left sided hernia was observed in 2 cases only. Lumbocostovertebral syndrome was found in all the patients in addition to other rare anomalies. All cases were managed with open surgical repair. Wound infection was seen in 2 cases. There was no mortality in our series. Conclusion. CLH is very rare among hernias. Surgery should be carried out within 1 year of age. For a defect of 5 cm, meshplasty should be considered. Prognosis is excellent.

  1. Management of Congenital Talipes Equino Varus (CTEV) by Ponseti Casting Technique in Neonates: Our Experience.

    Science.gov (United States)

    Saif Ullah, Md; Md Noor-Ul Ferdous, Kazi; Shahjahan, Md; Abu Sayed, Sk

    2013-01-01

    The purpose of this study is to evaluate the results of Ponseti technique in the management of congenital Talipes Equino Varus (CTEV) in neonatal age group. It is a prospective observational study, conducted during the period of July 2010 to December 2011 at the Department of Pediatric Surgery in a tertiary hospital. All the neonates with CTEV were treated with Ponseti casting technique. Neonates with other congenital deformities, arthrogryposis and myelomeningocele were excluded. Total 58 CTEV feet of 38 neonates were treated. Twenty six were males and 12 were females. Thirty seven (63.8%) feet were of rigid variety and 21(36.2 %) feet were of non-rigid variety. Twenty patients had bilateral and 18 had unilateral involvement. Mean pre-treatment Pirani score of study group was 5.57. Mean number of plaster casts required per CTEV was 3.75 (range: 2-6). Thirty five rigid and 15 non-rigid (total 86.2%) feet required percutaneous tenotomy. Out of 58 feet 56 (96.6%) were managed successfully. Three (5.2%) patients developed complications like skin excoriation and blister formation. Mean post-treatment Pirani score of the study group was: 0.36 ± 0.43. The Ponseti technique is an excellent, simple, effective, minimally invasive, and inexpensive procedure for the treatment CTEV deformity. Ideally it can be performed as a day case procedure without general anesthesia even in neonatal period.

  2. Vibrotactile masking experiments reveal accelerated somatosensory processing in congenitally blind braille readers.

    Science.gov (United States)

    Bhattacharjee, Arindam; Ye, Amanda J; Lisak, Joy A; Vargas, Maria G; Goldreich, Daniel

    2010-10-27

    Braille reading is a demanding task that requires the identification of rapidly varying tactile patterns. During proficient reading, neighboring characters impact the fingertip at ∼100 ms intervals, and adjacent raised dots within a character at 50 ms intervals. Because the brain requires time to interpret afferent sensorineural activity, among other reasons, tactile stimuli separated by such short temporal intervals pose a challenge to perception. How, then, do proficient Braille readers successfully interpret inputs arising from their fingertips at such rapid rates? We hypothesized that somatosensory perceptual consolidation occurs more rapidly in proficient Braille readers. If so, Braille readers should outperform sighted participants on masking tasks, which demand rapid perceptual processing, but would not necessarily outperform the sighted on tests of simple vibrotactile sensitivity. To investigate, we conducted two-interval forced-choice vibrotactile detection, amplitude discrimination, and masking tasks on the index fingertips of 89 sighted and 57 profoundly blind humans. Sighted and blind participants had similar unmasked detection (25 ms target tap) and amplitude discrimination (compared with 100 μm reference tap) thresholds, but congenitally blind Braille readers, the fastest readers among the blind participants, exhibited significantly less masking than the sighted (masker, 50 Hz, 50 μm; target-masker delays, ±50 and ±100 ms). Indeed, Braille reading speed correlated significantly and specifically with masking task performance, and in particular with the backward masking decay time constant. We conclude that vibrotactile sensitivity is unchanged but that perceptual processing is accelerated in congenitally blind Braille readers.

  3. Experience of decortication for restrictive hemodynamics in adults with congenital heart disease.

    Science.gov (United States)

    Mizuno, Masanori; Ohuchi, Hideo; Kagisaki, Koji; Miyazaki, Aya; Ishibashi-Ueda, Hatsue; Yamada, Osamu

    2014-08-01

    We treated four postoperative adults with congenital heart disease with severe restrictive hemodynamics (RH), and performed decortication (DC) with the anticipation of some relief of the RH. The catheterizations before DC showed high central venous, and right and left ventricular end-diastolic pressures with "dip-and-plateau" pressure waveforms in the right and left ventricles. Upon myocardial histopathologic examination, moderate myocardial fibrotic change was demonstrated in two of three cases. DC led to decrease in type B natriuretic peptide levels in all cases, resulting in a decline in the central venous, right and left ventricular end-diastolic pressures in three cases. Successful DC-related relief of RH, dilatation of the ventricles with decline in central and end-diastolic pressures, was observed in only one case. Our limited DC-related hemodynamic improvement indicates a complexity of the severe RH, which may represent a unique intractable heart failure pathophysiology in intractable postoperative adult congenital heart disease. © 2014 Japan Pediatric Society.

  4. Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia

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    Kuzmanović Miloš

    2014-01-01

    Full Text Available Introduction. The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and variable levels of deafness, disturbances of vision and renal function impairment. A common genetic background of these disorders are mutations in MYH9 gene, coding for the nonmuscle myosin heavy chain IIA. Differential diagnosis is important for the adequate treatment strategy. The aim of this case report was to present a patient with MYH9 disorder in Serbia. Case report. A 16-year-old boy was referred to our hospital with the diagnosis of resistant immune thrombocytopenia for splenectomy. Thrombocytopenia was incidentally discovered at the age of five. The treatment with corticosteroids on several occasions was unsuccessful. Although the platelet count was below 10 × 109/L, there were no bleeding symptoms. Besides thrombocytopenia with giant platelets, on admission the patient also suffered sensorineuronal hearing loss and proteinuria. The diagnosis was confirmed with immunofluorescence and genetic analyses. Conclusion. Early recognition of MYH9-related diseases is essential to avoid unnecessary and potentially harmful treatments for misdiagnosed immune thrombocytopenia, and also for timely and proper therapy in attempt to delay end-stage renal failure and improve quality of life. [Projekat Ministartsva nauke Republike Srbije, br. 175056 i br. 15079

  5. Creating Opportunities for Optimal Nutritional Experiences for Infants With Complex Congenital Heart Disease.

    Science.gov (United States)

    Steltzer, Michelle M; Sussman-Karten, Karen; Kuzdeba, Hillary Bishop; Mott, Sandra; Connor, Jean Anne

    To our knowledge, successful breastfeeding in the population with single ventricle congenital heart disease has not been reported in the literature, particularly during the interstage period. A retrospective case study including inpatient nutrition and a complete history of daily logs with the home surveillance monitoring program was performed. Successful full breastfeeding (exceeding prescribed weight growth goals) after Stage I surgery was achieved during the interstage period. The infant was discharged at 3.41 kg, not consistently breastfeeding, and progressed to 7.05 kg at 5 months of age, fully breastfeeding. Supporting breastfeeding for infants who have undergone repairs for single ventricle anatomy can be challenging but can be accomplished. It requires a concerted team effort, clear communication, and collaboration among caregivers, the mother, and her supporters. Copyright © 2016 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.

  6. A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder

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    Anina Bauer

    2017-09-01

    Full Text Available In heterozygous females affected by an X-linked skin disorder, lesions often appear in a characteristic pattern, the so-called Blaschko’s lines. We investigated a female Labrador Retriever and her crossbred daughter, which both showed similar clinical lesions that followed Blaschko’s lines. The two male littermates of the affected daughter had died at birth, suggesting a monogenic X-chromosomal semidominant mode of inheritance. Whole genome sequencing of the affected daughter, and subsequent automated variant filtering with respect to 188 nonaffected control dogs of different breeds, revealed 332 hetero-zygous variants on the X-chromosome private to the affected dog. None of these variants was protein-changing. By visual inspection of candidate genes located on the X-chromosome, we identified a large deletion in the NSDHL gene, encoding NAD(P dependent steroid dehydrogenase-like, a 3β-hydroxysteroid dehydrogenase involved in cholesterol biosynthesis. The deletion spanned >14 kb, and included the last three exons of the NSDHL gene. By PCR and fragment length analysis, we confirmed the presence of the variant in both affected dogs, and its absence in 50 control Labrador Retrievers. Variants in the NSDHL gene cause CHILD syndrome in humans, and the bare patches (Bpa and striated (Str phenotypes in mice. Taken together, our genetic data and the known role of NSDHL in X-linked skin disorders strongly suggest that the identified structural variant in the NSDHL gene is causative for the phenotype in the two affected dogs.

  7. Experiences of women living with borderline personality disorder

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    N. Ntshingila

    2016-10-01

    Full Text Available There is limited understanding of the experiences of women living with borderline personality disorder. It was therefore decided to discover how women living with this disorder would tell their life story. For the researcher, who worked in a psychotherapy ward where most women were living with borderline personality disorder, the care of these women was of vital importance, as they were less understood by mental health care providers.The research aimed to explore and describe the experiences of women living with borderline personality disorder. A qualitative, explorative, descriptive and contextual study design was used. Data was collected through in-depth phenomenological interviews that focused on the central question, “Tell me your life story”. Eight participants living with borderline personality disorder were interviewed. Tesch's method for data analysis was used (Creswell, 2009:186, along with an independent coder. Measures to ensure trustworthiness and ethical principles were applied throughout the research. From the findings obtained by means of the interviews of women living with borderline personality disorder, it was evident that there were childhood experiences of living in an unsafe space, related to unhealthy family dynamics, boundary violations and educational challenges. They experienced chronic feelings of emptiness in their relationships with theself. They also presented with a pattern of unstable interpersonal relationships and compromised mental health, which was apparent through the early on set of mental problems, emotional upheaval, looking for emotional escape and having different triggerfactors. Lastly, all these women yearned for facilitated mental health.

  8. Kosovo’s Experience for Children with Feeding Difficulties after Cardiac Surgery for Congenital Heart Defect

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    Ramush Bejiqi

    2017-11-01

    CONCLUSION: Feeding disorder is often and a frequent long-term sequel in children after neonatal or early infancy heart surgery. Patients with chromosomal and associated anomalies who underwent multiple cardiac surgeries are at risk of developing feeding difficulties.

  9. Associations of prenatally detected choroid plexus cysts with biochemical risk for congenital disorders

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    Danielius Serapinas

    2014-06-01

    Full Text Available Introduction: C horoid plexus cysts are one of the foetus ultrasonography findings that raise parents’ concerns about their child’s health. Usually cysts are found in an estimated 1% all performed ultrasonographies. Aim of the research: To evaluate the risk of Down syndrome, Edward’s syndrome and neural tube defect when choroid plexus cysts are found. Material and methods : The risks of Down syndrome, Edward’s syndrome and neural tube defect were calculated by using second-trimester biomarkers (a-fetoprotein, human choriongonadotropin, unconjugated estriol for patients with choroid plexus cysts. A control group was selected randomly with calculated risks and without any abnormal ultrasonography findings. These risks were compared between the two groups. Results: Twelve pregnancies with diagnosed choroid plexus cysts were included in this study during the year 2012. Choroid plexus cyst findings during this case/control study have shown that only one case from the test group had progressed to more serious foetal aberrations (Edward’s syndrome; nonetheless, this progression did not influence statistically significant changes in the test and control groups. No statistically significant changes between the risks of disorders according the PRISCA method were observed in the appearance of Down syndrome or neural tube defect.  Conclusions : There is no data that choroid plexus cysts increase the risk of Down syndrome, Edward’s syndrome and neural tube defect.

  10. Clinical profile and management options of children with congenital esophageal stenosis: A single center experience

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    Jujju Jacob Kurian

    2016-01-01

    Full Text Available Aim: The aim of the study is to review 7 patients with congenital esophageal stenosis treated in our institution from a diagnostic and therapeutic point of view. Materials and Methods: This is a retrospective cohort study of 7 patients treated in Christian Medical College, Vellore from 2008 to 2014. The data were analyzed with regards to age at onset of symptoms, investigative findings, age at definitive treatment, pathology, modalities of treatment, and outcomes. Results: Symptoms started within the 1 st year of life in all children with a median age of 4 months. The time of delay in diagnosis ranged from 8 months to 81 months with a mean period of 37 months. About 6 patients had a lower esophageal stenosis and 1 patient had a mid-esophageal stenosis. About 4 of the 7 children underwent endoscopic balloon dilatation from elsewhere, with 2 of the above 4 undergoing a myotomy for a wrongly diagnosed achalasia. The number of dilatations ranged from 2 to 7 with a mean of 4 dilatations. Resection of the stenotic segment with end to end anastomosis was employed in 6 of the 7 patients, and a transverse colon interpositioning was done in 1 patient. An antireflux procedure was performed in one patient. Histopathological examination of the resected specimen revealed tracheobronchial remnant in 3 patients, fibromuscular thickening in 3 patients, and membranous web in 1 patient. Postoperatively, 2 of the 7 patients had asymptomatic gastroesophageal reflux and 1 patient had postoperative stricture requiring one session of endoscopic balloon dilatation. The mean follow-up period was 42 months (range 18-72 months. At the time of the last follow-up, all 7 patients were able to eat solid food, and none of the children were found to have symptoms suggestive of obstruction or gastroesophageal reflux. There was a statistically significant increase in the weight for age after the operation. Conclusion: Congenital esophageal stenosis is rare and often confused with

  11. [Chromosomal anomalies: The experience of the Congenital Anomalies Registry of the Valencia Region].

    Science.gov (United States)

    Gimeno-Martos, S; Cavero-Carbonell, C; López-Maside, A; Bosch-Sánchez, S; Martos-Jiménez, C; Zurriaga, O

    2016-04-01

    To describe the temporal trend and distribution of chromosomal congenital abnormalities (CA) in the Valencia Region, in less than one year olds, during the period 2007-2011. Live births, still births and termination of pregnancy due to foetal anomaly between 2007 and 2011 with chromosomal CA (Q90-Q99.9 codes of the 10th International Classification of Diseases -British Paediatric Association) were selected from the CA population-based Registry of Valencia Region The prevalence per 10,000 births for the chromosomal CA and for the different types of chromosomal syndromes with 95% confidence intervals was calculated. The analysis was performed by calculating prevalences and data were compared using Pearson Chi-squared test. A total of 895 cases were found, representing a prevalence of 33.5 per 10,000 births (95% CI: 31.0-35.9), highlighting five syndromes: Down's, Edward's, Patau, Turner and Klinefelter. The prevalence of chromosomal CA and Down's syndrome were stable over the period, except in 2010. Down's was the most frequent chromosomal CA (67% of the cases), and the most frequent termination of pregnancy type was for foetal anomaly (69%). Cardiac heart defects represented 70.3% of the associated congenital anomalies. Mothers of children with chromosomal CA were mainly Spanish (73.3%). The age group of mothers over 39 years had a higher prevalence (133.0 per 10,000 births). The province of Castellón had the highest prevalence, 39.1 per 10,000 births. The prevalence has remained stable over the five years, excluding the significant decline in 2010, for chromosomal CA detected and two of the major syndromes. The chromosomal CA are an important public health problem as they represent 15% of all CA identified in the Valencia Region, and agrees with the European data. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  12. Clinical profile and management options of children with congenital esophageal stenosis: A single center experience.

    Science.gov (United States)

    Kurian, Jujju Jacob; Jehangir, Susan; Varghese, Isaac Tharu; Thomas, Reju Joseph; Mathai, John; Karl, Sampath

    2016-01-01

    The aim of the study is to review 7 patients with congenital esophageal stenosis treated in our institution from a diagnostic and therapeutic point of view. This is a retrospective cohort study of 7 patients treated in Christian Medical College, Vellore from 2008 to 2014. The data were analyzed with regards to age at onset of symptoms, investigative findings, age at definitive treatment, pathology, modalities of treatment, and outcomes. Symptoms started within the 1(st) year of life in all children with a median age of 4 months. The time of delay in diagnosis ranged from 8 months to 81 months with a mean period of 37 months. About 6 patients had a lower esophageal stenosis and 1 patient had a mid-esophageal stenosis. About 4 of the 7 children underwent endoscopic balloon dilatation from elsewhere, with 2 of the above 4 undergoing a myotomy for a wrongly diagnosed achalasia. The number of dilatations ranged from 2 to 7 with a mean of 4 dilatations. Resection of the stenotic segment with end to end anastomosis was employed in 6 of the 7 patients, and a transverse colon interpositioning was done in 1 patient. An antireflux procedure was performed in one patient. Histopathological examination of the resected specimen revealed tracheobronchial remnant in 3 patients, fibromuscular thickening in 3 patients, and membranous web in 1 patient. Postoperatively, 2 of the 7 patients had asymptomatic gastroesophageal reflux and 1 patient had postoperative stricture requiring one session of endoscopic balloon dilatation. The mean follow-up period was 42 months (range 18-72 months). At the time of the last follow-up, all 7 patients were able to eat solid food, and none of the children were found to have symptoms suggestive of obstruction or gastroesophageal reflux. There was a statistically significant increase in the weight for age after the operation. Congenital esophageal stenosis is rare and often confused with other causes of esophageal obstruction. Although endoscopic balloon

  13. Heart transplantation in pediatric and congenital heart disease: a single-center experience.

    Science.gov (United States)

    Rungan, Santuri; Finucane, Kirsten; Gentles, Tom; Gibbs, Helen C; Hu, Rong; Ruygrok, Peter N

    2014-04-01

    To describe the indications and outcomes for pediatric patients and patients with congenital heart disease (CHD) undergoing heart transplantation (HT) in New Zealand. A retrospective audit of 253 patients who underwent HT from 1987 to end 2012 was undertaken. Thirty-seven patients were subdivided into two groups, those aged pediatric heart disease (PHD) and those with CHD. Six patients aged heart disease in 3. At follow-up, 11 patients had died. Actuarial survival was 91% at one year and 79% at five years. Of the four patients with a mechanical assist device to bridge, three were transplanted and alive at follow-up. The CHD group comprised 21 (8.3%) patients, median age 25 years (range 6-48) and 19 (90%) were male. At follow-up, three patients had died. Actuarial survival was 95% at one year, 94% at five years, and 85% at ten years. All five patients with pre-HT Fontan circulation were alive a median of eight years following HT. Heart transplantation for carefully selected pediatric patients and patients with CHD can be successfully performed with favorable outcomes in a geographically isolated unit.

  14. Nutritional Status in Children with Un-Operated Congenital Heart Disease: An Egyptian Center Experience.

    Science.gov (United States)

    Hassan, Basheir A; Albanna, Ehab A; Morsy, Saed M; Siam, Ahmed G; Al Shafie, Mona M; Elsaadany, Hosam F; Sherbiny, Hanan S; Shehab, Mohamed; Grollmuss, Oswin

    2015-01-01

    Malnutrition is a common cause of morbidity and mortality in children with congenital heart disease (CHD). This study aimed to identify prevalence and predictors of malnutrition in Egyptian children with symptomatic CHD. This case-control study included 100 children with symptomatic CHD (76 acyanotic and 24 cyanotic) and 100 healthy children matched for age and sex as a control group. Clinical Evaluation and Laboratory Assessment of Nutritional Status were documented. Anthropometric measurements were recorded and Z scores for weight for age (WAZ), weight for height (WHZ), and height for age (HAZ) have been calculated. Malnutrition was defined as weight, height, and weight/height Z score ≤-2. The overall prevalence of malnutrition was 84.0% in patients with CHD and 20% in controls. Severe malnutrition was diagnosed in 71.4% of cases. All anthropometric measurements and levels of biochemical markers of nutritional state were significantly lower in the patients group compared to controls. In patients with acyanotic CHD, stunting was proportionately higher (57.89%) than in cyanotic CHD, while wasting was predominant (45.83%) in the latter. Malnutrition correlated significantly with low hemoglobin level, low arterial oxygen saturation, heart failure, pulmonary hypertension, and poor dietary history. Malnutrition is a very common problem in children with symptomatic CHD and predicted by the presence of low hemoglobin level, low arterial oxygen saturation, heart failure, poor dietary history, and pulmonary hypertension.

  15. Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience.

    Science.gov (United States)

    González, Ernesto Carlos; Carvajal, Frank; Frómeta, Amarilys; Arteaga, Ana Luisa; Castells, Elisa María; Espinosa, Tania; Coto, Remigio; Pérez, Pedro Lucio; Tejeda, Yileidis; Del Río, Lesley; Segura, Mary Triny; Almenares, Pedro; Robaina, René; Fernández, José Luis

    2013-06-05

    Since 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba. The hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those neonates with 17OHP values above 55 nmol/l. Some perinatal factors that can influence on 17OHP levels were studied. From January 2005 to December 2010, 621,303 newborns were screened and 39 CAH cases were detected. Coverage of the program reached 98%. The incidence of CAH in Cuba was 1:15,931, similar to that reported by other programs. A recall for suspected CAH was performed in 10,799 cases (1.74%). Therapy in classical CAH patients was started at the mean age of 22 days. 17OHP levels were significantly higher in newborns with lower birth-weight (BW) and/or gestational age (GA). In addition, 17OHP values were affected by the gender, twin status or mode of delivery. In Cuba, the nationwide newborn screening program has allowed the early detection of CAH. The use of an optimized cut-off level for BW or GA could lead to a reduction in the percentage of recalled babies. Copyright © 2013 Elsevier B.V. All rights reserved.

  16. Experience of ventriculo-peritoneal shunt insertion in late presenting congenital hydrocephalus.

    Science.gov (United States)

    Hussain, Zahid; Ghaffar, Abdul; Qasmi, Shahzad Ahmed; Mushtaq, Junaid

    2016-04-01

    To evaluate the outcomes of insertion of ventriculo-peritoneal shunts in paediatric neglected hydrocephalus. The quasi-experimental study was conducted at the Combined Military Hospital, Rawalpindi, from January 2012 to June 2014, and comprised infants of both genders who presented late with congenital hydrocephalus, having fronto-occipital circumference more than 98 percentile of matched age group. Pre-operative assessment was based upon detailed history, clinical examination, laboratory investigations and computed tomography scan of head. After insertion of ventriculo-peritoneal shunt, patients were followed up for outcomes. Data was analysed using SPSS 17. Of the 30 infants, 12(40%) were girls and 18(60%) were boys. Overall mean age was 7.73±1.41 months (range: 5-10 months). Mean fronto-occipital circumference was 54.30±3.08. Cerebrospinal fluid infection was documented in 12(40%). Abdominal wound complications were observed in 7(23.3%) infants. Ventriculo-peritoneal shunt was removed in 18(60%) and eventually replaced in 18(60%). In-hospital mortality on account of complications was encountered in 13(43.3%). Correlation of fronto-occipital circumference to mortality was significant (p=0.001). To shunt or not to shunt remains a dilemma for poor-risk infants, but timely reporting of infants with hydrocephalus, proper case selection may improve the outcome of surgical intervention.

  17. A girl's experience of congenital trauma: The healing function of psychoanalysis in the adolescent years.

    Science.gov (United States)

    Bell, Silvia M

    2005-01-01

    This paper addresses the centrality of conflict in psychic trauma, as evidenced in the psychoanalytic treatment of an adolescent girl with a congenital life-threatening and disfiguring condition that necessitated multiple surgical procedures in early childhood. The focus is twofold: to elucidate certain characteristics of analysis in the adolescent phase that promote the integration of early trauma; and to shed light on the modes of therapeutic action of psychoanalysis. Case material is presented indicative of the psychic consequences of early medical traumata, including the impairment of the ego's capacity to utilize anxiety as a signal function that mobilizes defense, the failure of repetition to effect mastery of the trauma, the predominant use of aggression in the interest of defense, and distortions in self and object representations. The author offers evidence to show that conflicts over aggression and oedipal desires, characteristic of adolescent girls who have not been subject to trauma, were involved in the defensive function of her patient's pervasive sense of defectiveness. She postulates that the interpretation of conflict and defense is the analyst's attuned response to the mind of the patient, and points to the resulting increase in the capacity to observe and to exercise volitional control over heretofore unconscious, automatic mental processes as evidence of the mutative function of dynamic interpretation.

  18. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  19. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  20. Congenital Hemolytic Anemia.

    Science.gov (United States)

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Affective instability in borderline personality disorder: experience sampling findings.

    Science.gov (United States)

    Nica, Elena Irina; Links, Paul S

    2009-02-01

    Affective instability, defined as repeated, rapid, and abrupt shifts in mood, is considered the core pathology in borderline personality disorder. The temporal pattern of affective instability can be best captured with the experience sampling method-longitudinal assessment of people's affective states as they occur in real time and in their natural environment. A review of the experience sampling studies published to date for borderline personality disorder suggests the following mood variability pattern: intense negative mood, more frequent and abrupt mood changes than healthy controls and patients with major depression, and partial triggering of affect by external events. The method also has great potential to investigate the links between affective instability and other psychological and behavioral correlates of the disorder, such as suicide, lack of self-esteem, and erratic behaviors. However, the method requires systematic study to determine best data collection designs and mathematical models of mood variability.

  2. Alteraciones neuropsicológicas en la hiperplasia adrenal congénita Neuropsychological disorders related to congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Yaser Ramírez Benítez

    2008-12-01

    Full Text Available INTRODUCCIÓN: la hiperplasia adrenal congénita engloba un conjunto de enfermedades genéticas de transmisión autosómica recesiva caracterizadas por un trastorno de la esteroidogénesis suprarrenal. Constituye un caso típico de daño cerebral por el efecto patológico de las hormonas sexuales en el sistema nervioso en desarrollo, y a esto se le suman las secuelas secundarias al cuadro grave de crisis adrenal que aparece en la forma clásica a los pocos días de vida. MÉTODOS: estudio de caso en un niño de 6 años de edad con antecedentes de hiperplasia adrenal congénita perdedora de sal. Se determinaron los puntos débiles y fuertes en el desarrollo a través de la batería neuropsicológica Luria Inicial. Como complementario a la evaluación se aplicó la Escala de Inteligencia de Weschler y el Cuestionario de Comportamiento Infantil para padres y profesores. RESULTADOS: el niño presenta un perfil neuropsicológico caracterizado por bajas puntuaciones en: motricidad manual, habilidades viso-espaciales, impulsividad, pobre vocabulario, dificultades en operaciones de cálculos sencillos, en el reconocimiento de objetos por el tacto sin la ayuda visual y en la rapidez de procesamiento. La capacidad de inteligencia está en límites normales con un rendimiento más bajo en la escala no verbal. En la escala de comportamiento se identificaron las dificultades en la atención y en el aprendizaje. CONCLUSIONES: el perfil neuropsicológico se caracteriza por tener bajas ejecuciones en tareas verbales, no verbales y en la velocidad de procesamiento. El tratamiento hormonal en los primeros días de nacido permite que el desarrollo siga un curso "normal", pero todo proceso tiene un costo que se refleja en la adquisición de habilidades psicológicas superioresCongenital adrenal hyperplasia includes a series of genetic diseases of autosomal recessive transmission characterized by a disorder of suprarenal esteroidogenesis. This is a typical case of

  3. School Experiences of Adolescents with Attention-Deficit/Hyperactivity Disorder

    Science.gov (United States)

    Wiener, Judith; Daniels, Lesley

    2016-01-01

    This article reports on a qualitative study of the school experiences of adolescents with attention-deficit/hyperactivity disorder (ADHD) in the context of quantitative research on teacher attitudes and practices, adolescent self-appraisals, and social and family relationships. Twelve adolescents with ADHD participated in in-depth, semistructured…

  4. Postsecondary Educational Experiences of Adults with Fetal Alcohol Spectrum Disorder

    Science.gov (United States)

    Duquette, Cheryll; Orders, Shari

    2013-01-01

    The postsecondary experiences of adults diagnosed with Fetal Alcohol Spectrum Disorder (FASD) were examined in this qualitative research. Tinto's Student Integration Model (SIM) (1975, 1997) provided the theoretical framework that guided the study. Tinto posits that the interplay of background characteristics, academic integration, and social…

  5. Psychiatry Trainees' Training and Experience in Fetal Alcohol Spectrum Disorders

    Science.gov (United States)

    Eyal, Roy; O'Connor, Mary J.

    2011-01-01

    Background/Objective: Alcohol is a teratogen. Fetal alcohol spectrum disorders (FASDs) affect about 1% of live births, causing severe impairment. Individuals affected by FASDs are overrepresented in psychiatric settings. This study reports on the education and experience of psychiatry trainees in approaching FASDs. Method: Data were collected from…

  6. Evaluation of early and late complications in patients with congenital lobar emphysema: A 12 year experience

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    Nazem Masood

    2010-01-01

    Full Text Available Background: Congenital lobar emphysema (CLE is characterised by over distension of one lobe and pressure on the adjacent lobe and mediastinum. In this study, we review the pathological results of our paediatric patients with CLE, highlighting the early and late complications that occurred in these patients. Patients and Methods: In a prospective study from 1996 to 2008, we evaluated 30 patients with CLE diagnosis. Variables collected included sex, age at the time of diagnosis, radiological diagnostic method, type of treatment, pathological analysis, surgical findings and early postoperative complications. Parents were asked to refer to our clinic for follow-up and evaluation of late complications. Results: Thirty patients and males accounted for majority of the study population (n = 20, 67%. The mean age of male and female patients (at admission was 7.2 ± 2.3 and 4.7 ± 1.2 months respectively (P = not significant. The main diagnostic method was chest x-ray (CXR in all patients. Abnormal bronchial cartilage was found in 71% of patients. The most affected lobe was left upper lobe (50%. Associated anomalies were seen in four patients. Early postoperative periodhadtwo cases of pneumothoraces. At six month follow up, five (25% males and four females (40% had delayed weight gain. Permanent oxygen dependency was seen in two patients. Twenty- six patients underwent thoracotomy. Mortality rate was 13%. Base deficit at the time of admission was greater in those patients who eventually died, (-8.6 ± 1.2 versus -3.1 ± 0.4 (P = 0.0003. There were two deaths in the bilobar involvement group and two in the unilobar involvement group (P = 0.07, near significant. Conclusion: This study confirms that the number of affected lobes and base deficit at the time of admission were associated with significantly increased mortality.

  7. The use of lipofilling to treat congenital hypoplastic breast anomalies: preliminary experiences.

    Science.gov (United States)

    Derder, Mohamed; Whitaker, Iain S; Boudana, David; Marchac, Alexandre; Hivelin, Mikael; Mattar, Nadia; Lepage, Christophe; Claude, Olivier; Benjoar, Marc-David; Bosc, Romain; Lantieri, Laurent

    2014-10-01

    Treatment options for congenital hypoplastic breast anomalies are often open, including radial scoring, parenchymal flaps, and insertion of expanders and implants. Drawbacks of open techniques involve scarring, the use of drains, and inpatient stays. The use of lipofilling to treat breast deformities is increasing, as more research is completed in this area. We report a retrospective study of 10 patients below the age of 20 following autologous fat transfer between January 1, 2003 and January 1, 2004. (2 Poland syndrome, 3 bilateral tuberous breast, and 5 unilateral micromastia). Age, cup size, the number of sessions, time interval between each session, volumes injected, and complications were recorded. Postoperative mammography, ultrasonography, and MRI were assessed by a specialized radiologist. Patients answered a questionnaire 1 year after the procedure. Mean follow-up was 68 months (60-77 months) and mean age was 17.5 years (15-20 years). Mean number of fat injection sessions was 2 (1-4) and mean volume injected 285 mL per breast (200-500 mL). The time interval between each session was 5 months (3-6 months). Cup size remained unchanged after at least 5 years of follow-up. One case underwent a contralateral breast reduction. The cosmetic results considered satisfactory in almost all the patients after 1 year of follow-up. None of our patients complained of scars or defects at the donor site. All breasts imaging were normal except 1 patient with oil cysts. Our preliminary results using lipofilling to treat young patients with breast hypoplasia with lipofilling are very encouraging. The authors believe it is an alternative of choice for the correction of the young woman's breast deformities if the avoidance of scarring is preferred.

  8. Tracheostomy Following Surgery for Congenital Heart Disease: A 14-year Institutional Experience.

    Science.gov (United States)

    Benneyworth, Brian D; Shao, Jenny M; Cristea, A Ioana; Ackerman, Veda; Rodefeld, Mark D; Turrentine, Mark W; Brown, John W

    2016-05-01

    Tracheostomy following congenital heart disease (CHD) surgery is a rare event and associated with significant mortality. Hospital survival has been reported from 20% to 40%. Late mortality for these patients is not well characterized. We performed a retrospective observational study of patients who had a tracheostomy following CHD surgery (excluding isolated patent ductus arteriosus ligation) between January 2000 and December 2013. Patients were categorized into single-ventricle or biventricular physiology groups. Demographics, genetic syndromes, pulmonary disease, and comorbidities were collected. Outcomes including hospital survival, long-term survival, and weaning from positive pressure ventilation are reported. Bivariate and time-to-event models were used. Over a 14-year period, 61 children (0.9% incidence) had a tracheostomy placed following CHD surgery. There were 12 single-ventricle patients and 49 biventricular patients. Prematurity, genetic syndromes, lung/airway disease, and other comorbidities were common in both CHD groups. Gastrostomy tubes were used more frequently in biventricular physiology patients (91.8%) versus single-ventricle patients (66.7%, P = .04). Survival to hospital discharge was 50% in the single-ventricle group compared to 86% in biventricular patients (P = .01). Long-term survival continued to be poor in the single-ventricle group comparatively (three years, 27.8% vs 64.8%, P = .01). Gastrostomy tube placement was independently associated with survival in both groups (P = .002). Tracheostomy is performed following many types of surgery for CHD and is commonly associated with other comorbidities. Both hospital and long-term survival are substantially lower in children with single-ventricle physiology as compared to patients with biventricular physiology. © The Author(s) 2016.

  9. Outcome of Systemic-to-Pulmonary Shunts in Cyanotic Congenital Heart Disease- A 9-year Experience

    Directory of Open Access Journals (Sweden)

    Hashemzadeh Khosro

    2009-05-01

    Full Text Available The aim of this study is to evaluate early and late results of surgery in children with congenital heart disease and decreased pulmonary blood flow, who underwent a palliative systemic-to-pulmonary shunt. During the past 9 years, 157 systemic-to-pulmonary artery shunts were performed in 130 patients (69 males, 61 females with ages from 1 day to 31 years old. They had been evaluated for their clinical effectiveness, the need for a repeat operation and the mortality and morbidity. There were 101 (77.7% modified Blalock-Tausig (BT shunts, 19 (14.6% modified Waterston shunts, 8 (6.2% Central shunts, 1 Waterston shunt, and 1 Glenn shunt created throughout the study. Tetralogy of Fallot comprised the majority of cases (113; 86.9% while the remaining 17 (13.1% included transposition of the great arteries with pulmonary stenosis, tricuspid atresia, pulmonary atresia, atrioventricular septal defect (canal with pulmonary stenosis, and univentricular heart complex. Early mortality was 12.3% (16 patients. Second shunts were created in 25 (19.2% patients. Forty patients (30.8% have undergone subsequent intracardiac repair 37.7 ± 17.8 months after original shunt procedure. There were four (3% late deaths. Follow-up was achieved in 105 of 114 early survivors for a pe-riod of 3 to 117 months (mean 31.7 ± 19.4 months. Modified BT shunt was performed most frequently in our service; it was associated with less closure and mortality than other types of shunt and had excellent clinical palliation and patency rates.

  10. Predictors of prognosis in neonates with congenital diaphragmatic hernia: experience of 12 years

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    Catarina Granjo Morais

    2017-01-01

    Full Text Available Introduction: Congenital diaphragmatic hernia (CDH is a severe malformation, displaying relevant mortality and morbidity rates in newborns.Aim: To characterize clinically and demographically all neonatal cases of CDH admitted to a level III Neonatal Intensive Care Unit during a 12-year period and to evaluate the predictive value of baseline characteristics on mortality and morbidity at discharge.Methods: Maternal/infant clinical and electronic records were ret-rospectively reviewed. All neonates with posterolateral CDH admitted between January 2003 and December 2014 were included.Results: Fifty-three newborns were included. Overall mortality during hospitalization was 22/53 (41.5%. Clinical characteristics associated with mortality were the presence of intrathoracic liver (p = 0.005, intrathoracic stomach (p = 0.015, elevated arterial pCO2 or lower pH values at admission (respectively, p = 0.001 and p < 0.001, pre-ductal oxygen saturation < 85% at admission (p = 0.012 and surgical repair with prosthetic patch (p = 0.041. Morbidity at discharge was reported in 7 (22.6% survivors. Stomach herniation and sepsis were associated with higher morbidity (respectively, p = 0.012 and p = 0.029. In a logistic regression, patch repair was the only variable with predictive value for death during hospitalization, with an odds ratio (OR of 15 (95% CI 0.98-228.9, and intrathoracic stomach was a predictor of morbidity at discharge (OR = 15.7, 95% CI 1.4-174.2.Conclusion: Structural characteristics, namely defect size and presence of intrathoracic stomach, remain the primary determinants of neonatal prognosis in CDH. Although post-natal approaches have progressively proven their value in increasing survival and improving management of high-risk cases, future researches should continue focusing on the definition of foetal anatomical markers of severity and prenatal treatment of CDH.

  11. Demographic and Clinical Aspects of Congenital Hypothyroidism ...

    African Journals Online (AJOL)

    Introduction: Congenital hypothyroidism is the most common congenital endocrine disorder worldwide. Approximately 80 to 85% of cases are caused by defects in thyroid development (dysgenesis), the remaining 15 to 20% are due to errors of thyroid hormone biosynthesis (dyshormonogenesis). Congenital hypothyroidism ...

  12. Family Care giving in Bipolar disorder: Experiences of Stigma.

    Directory of Open Access Journals (Sweden)

    Farshid Shamsaei

    2013-12-01

    Full Text Available Stigma is a serious impediment to the well-being of those who experience it. Many family- caregivers are challenged by the stereotypes and prejudice that result from misconceptions about bipolar disorder.The purpose of this study was to explore the stigma experienced by family caregivers of patients with bipolar disorder.This was a qualitative and phenomenological study. In this study, we selected the family caregivers of patients with bipolar disorder in a psychiatric hospital (Iran using purposive sampling in 2011. By reaching data saturation, the number of participant was 12. Data were gathered through in-depth interviews and analyzed by the "Collaizi" method.Stigma was a pervasive concern to almost all participants. Family caregivers of patients with Bipolar disorders reported feelings and experiences of stigma and were most affected by them. Analysis of the interviews revealed 3 themes: Negative judgment, Shame, Stigmatization and Social Isolation.For a person with bipolar disorder, this illness is associated with the following problems: worse recovery, difficulty accessing health services, receiving poor treatment and support, and difficulty gaining community acceptance. Rejection of people with mental illness might also affect their family caregivers at various levels.

  13. Family Care giving in Bipolar disorder: Experiences of Stigma.

    Science.gov (United States)

    Shamsaei, Farshid; Mohamad Khan Kermanshahi, Sima; Vanaki, Zohreh; Holtforth, Martin Grosse

    2013-10-01

    Stigma is a serious impediment to the well-being of those who experience it. Many family- caregivers are challenged by the stereotypes and prejudice that result from misconceptions about bipolar disorder. The purpose of this study was to explore the stigma experienced by family caregivers of patients with bipolar disorder. This was a qualitative and phenomenological study. In this study, we selected the family caregivers of patients with bipolar disorder in a psychiatric hospital (Iran) using purposive sampling in 2011. By reaching data saturation, the number of participant was 12. Data were gathered through in-depth interviews and analyzed by the "Collaizi" method. Stigma was a pervasive concern to almost all participants. Family caregivers of patients with Bipolar disorders reported feelings and experiences of stigma and were most affected by them. Analysis of the interviews revealed 3 themes: Negative judgment, Shame, Stigmatization and Social Isolation. For a person with bipolar disorder, this illness is associated with the following problems: worse recovery, difficulty accessing health services, receiving poor treatment and support, and difficulty gaining community acceptance. Rejection of people with mental illness might also affect their family caregivers at various levels.

  14. Experience with the polytetrafluoroethylene surgical membrane for pericardial closure in operations for congenital cardiac defects.

    Science.gov (United States)

    Amato, J J; Cotroneo, J V; Galdieri, R J; Alboliras, E; Antillon, J; Vogel, R L

    1989-06-01

    From 1984 through 1987, pericardial closure for 96 patients who underwent repair of congenital heart defects was completed with placement of a polytetrafluorethylene surgical membrane. Ages ranged from 1 day to 20 years (median age 2.1 years), and weight ranged from 2.7 to 44.6 kg (median weight 10.7 kg). Use of the membrane increased over the 4-year period. The patients were divided into three groups according to probability of reoperation: group I, low probability (35 patients); group II, intermediate probability (41 patients); and group III, high probability (20 patients). Early postoperatively there were no infections in any group and no complications attributable to the polytetrafluoroethylene membrane. No increase in pericardial drainage was found when the studied patients were compared to similar groups without the membrane. There were a total of 17 deaths (17.7%): group I, 1/35 (2.8%); group II, 9/41 (21.9%); and group III, 7/20 (35%). None of the deaths could be attributed to placement of the polytetrafluorethylene membrane. Seven patients had a second operation, which made possible the in vivo evaluation of the membrane. In addition, there was one late death, which allowed an autopsy. Findings were similar in all eight. There were no adhesions between the chest wall and the membrane. The latter had basically become transparent and was loosely attached to the epicardium. On the epicardial surface there was a thin layer of collagenous fibrous tissue that did not interfere with the visualization of the heart anatomy, including the coronary vessels. At early postoperative follow-up, difficulty in evaluation of the patient by two-dimensional echocardiography was encountered only in the parasternal view, but not in the other scans. In the parasternal view, the membrane is between the echo transducer and the heart and there is moderate blurring of finer details of the cardiac architecture. At late postoperative ultrasound study, resolution of the images in the

  15. Four-tiered echocardiographic analysis approach for congenital mitral valve malformations: Four years of experience.

    Science.gov (United States)

    Sun, Feifei; Chen, Yixin; Ren, Weidong; Zhang, Ying; Wu, Dan; Chen, Xin; Ma, Chunyan; Li, Dongyu

    2017-01-15

    Traditional methods of describing and classifying congenital mitral valve malformations (CMVMs) often lack specificity and scientificity. Thus, documentation is incomplete, especially in terms of ultrasound findings. Data were collected from 436 patients (mean age, 36.6±26.8years; male 47.9%), each subjected to echocardiographic evaluation of CMVM. Valvar characteristics were studied and analyzed via a four-tiered echocardiographic analysis (FTEA) approach: (1) supravalvular region and annulus, (2) valvar leaflets and commissures, (3) chordae tendineae, and (4) papillary muscles. A clinical random ultrasonic reading controlled trial was designed to the compare conventional diagnostic method and FTEA in patients with CMVMs. From a total of 246,507 echocardiograms, CMVMs were methodically investigated in 436 (0.18%) patients. Of these, 16 (3.7%) had multi-level malformations; and in 133 (30.5%), CVCMs were associated with other cardiac defects. Using a FTEA approach, involvement was distributed as follows: (1) supravalvular region and annulus (n=7 [1.6%]; excessive supravalvular tissue, 3; abnormal annulus, 4 [overriding, 1; shifted, 2; bridging/cord-like accessory tissue, 1]); (2) valvar leaflets and commissures (n=421 [96.3%]; lengthy or excessive, 210; underdeveloped, 35; contracture,12; atretic, 3; anomalously connected, 1; loose or billowy, 63; clefts, 57; dual orifice, 5; localized bulging, 6; accessory tissue element, 4; fibrotic, 18; fused leaflet cusps, 3; abnormal commissures, 4 [fused, 1; clefts, 3]); (3) chordae tendineae (n=14 [3.2%]; confined to single papillary muscle, 4; excessive, 2; thickened and fused, 2; shortened, 2; fibrotic, 2; accessory tissue element, 1; straddling, 1); and (4) papillary muscles (n=13 [3.0%]; absent, 2; single, 5; asymmetric, 2; abnormally located, 3; fibrotic, 1). According to the report comparing one by one each section among the inexperienced (groups A and B) and experienced (group C) groups out of 100 patients with CMVMs

  16. Congenital anomalies: 15 years of experience in a level III hospital

    Directory of Open Access Journals (Sweden)

    Carolina Félix

    2017-01-01

    Full Text Available Background: Congenital anomalies (CAs are a leading cause of fetal and infant mortality and morbidity worldwide. They may be identified prenatally, at the moment of birth or later in life.Purpose: To describe the cases of CAs registered over the last 15 years at a level III hospital, comparing individuals who were detected through prenatal (preN diagnosis with those detected through postnatal (postN diagnosis.Methods: All records were collected from the Registo Nacional de Anomalias Congénitas (RENAC online platform between 1st January 2000 to 31st December 2014, in a level III hospital, where cases of CAs were notified voluntarily (n = 1,222. We tested differences for selected variables between the years in study. A multivariate analysis was performed to identify potential factors associated to preN diagnosis.Results: We observed a total of 1,510 anomalies, being 493 (40.3% circulatory, 252 (20.6% chromosomal, 187 (15.3% musculoskeletal, 138 (11.3% digestive, 133 (10.9% urinary, 117 (9.6% nervous, 37 (3.0% respiratory, 35 (2.9% genital, 25 (2% anomalies of the eye, ear, face and neck, 20 (1.6% cleft lip/cleft palate and 73 (6.0% others. Time of diagnosis was known for all subjects: 770 (63.0% were diagnosed prenatally and 452 (37.0% were diagnosed at birth or during the first month of life. We found statistically significant differences between groups for several variables. Assisted reproduction techniques (p = 0.023, maternal medications during the first trimester of pregnancy (p = 0.004 and the number of anomalies per individual (p ≤ 0.001 had a statistically significant impact on receiving preN diagnosis.Conclusion: Our data confirm the importance of both RENAC national database and preN diagnosis in improving perinatal healthcare. However, in order to determine the national prevalence of CAs and understand any involved factors, it is desirable to enhance the notification in the whole country, facilitating the adjustment of national

  17. Experiences and Outcomes of Transition from Pediatric to Adult Health Care Services for Young People with Congenital Heart Disease: A Systematic Review.

    Science.gov (United States)

    Heery, Emily; Sheehan, Aisling M; While, Alison E; Coyne, Imelda

    2015-01-01

    This review synthesizes the empirical literature on outcomes and experiences of transfer and transition from pediatric to adult care for young people with congenital heart disease. A systematic review of papers published between January 2001 and May 2013 that examined outcomes or experiences of transfer and transition among young people with congenital heart disease was conducted. Data were extracted by two independent reviewers with the outcomes data combined using narrative synthesis and the experiences data integrated using thematic synthesis. Thirteen papers were included in the review: six reported outcomes following transfer, six reported experiences of transfer and transition, and one reported both outcomes and experiences. The review data indicate that high proportions of young people were lost to follow-up or experienced long gaps in care after leaving pediatric cardiology. Factors that protected against loss to follow-up or lapse in care included: beliefs that specialized adult care was necessary; poorer health status; attendance at pediatric appointments without parents; and pediatric referral to an adult congenital heart disease center. Data on experiences highlighted that many young people were unconcerned about transition, but lacked knowledge about their condition and were insufficiently prepared for transfer. In terms of adult services, many young people desired continuity in the quality of care, youth-oriented facilities, a personalized approach, and for their parents to remain involved in their care, but in a secondary, supportive capacity. In conclusion, the high proportions of young people lost to follow-up highlight the need for formal transition programs, which ensure a planned and coordinated transfer. Patients with congenital heart disease need education throughout adolescence about the implications of their condition, the differences between pediatric and adult services, and self-care management. © 2015 Wiley Periodicals, Inc.

  18. A rare presentation of a child with osteogenesis imperfecta and congenital laryngomalacia for herniotomy

    Directory of Open Access Journals (Sweden)

    Roshith Chandran

    2011-01-01

    Full Text Available Sometimes anaesthesiologists come across rare congenital anomalies in their practice. The inherent complications associated with the disorder necessitate tailor-made approaches for providing anaesthesia to even seemingly simple surgical interventions. Here, we share our experience of anaesthesia management of an infant with congenital laryngomalacia and recently diagnosed osteogenesis imperfecta type 1 who had presented to us with an acute abdomen for a semi-emergency herniotomy.

  19. The therapeutic characteristics of serial casting on congenital scoliosis: a comparison with non-congenital cases from a single-center experience.

    Science.gov (United States)

    Cao, Jun; Zhang, Xue-Jun; Sun, Ning; Sun, Lin; Guo, Dong; Qi, Xin-Yu; Bai, Yun-Song; Sun, Bao-Sheng

    2017-04-04

    The therapeutic efficacy of serial casting on idiopathic scoliosis has been gradually documented. However, literatures on serial casting for congenital scoliosis (CS) remain extremely rare. This paper aimed to compare the treatment outcomes of serial casting between CS and non-CS patients to comprehensively evaluate the therapeutic characteristics of serial casting on CS patients. A total of 23 early-onset scoliosis cases were included and divided into congenital scoliosis (CS, n = 8) and non-congenital group (non-CS, n = 15). Therapeutic outcomes including the major curve Cobb angle, thoracic kyphosis angle, lumbar lodosis angle, and thoracic spine growing rate were compared between groups at precast, after the first cast, and at the latest follow-up, respectively. All patients received the first cast at the age of 3.25 ± 1.20 years and 5.70 ± 1.18 times of cast corrections. The average casting time was 17.17 ± 3.38 months, and the mean follow-up time was 23.91 ± 12.28 months. Both CS and non-CS groups had significant decrease in Cobb angle after the first cast and at the latest follow-up (all P < 0.05). Cobb angle was significantly lower in non-CS group than in CS group at both time points (all P < 0.01). The correction rate of Cobb angle was significantly higher in non-CS group than in CS group (around 50 vs. 20%, both P < 0.01). The mean thoracic growth rate was significantly lower in CS group than in non-CS group (0.72 ± 0.20 vs. 1.42 ± 0.22 cm/year, P < 0.001). At the latest follow-up, there are 2 cases receiving growing rod surgery, 8 cases wearing a brace, and 13 cases continuing serial casting. Although the therapeutic efficacy of casting on CS patients is not as good as that on non-CS patients, casting is still an efficient treatment option for CS patients to delay the need for initial surgery.

  20. Diagnostic single gene analyses beyond Sanger. Economic high-throughput sequencing of small genes involved in congenital coagulation and platelet disorders.

    Science.gov (United States)

    Najm, Juliane; Rath, Matthias; Schröder, Winnie; Felbor, Ute

    2017-07-17

    Molecular testing of congenital coagulation and platelet disorders offers confirmation of clinical diagnoses, supports genetic counselling, and enables predictive and prenatal diagnosis. In some cases, genotype-phenotype correlations are important for predicting the clinical course of the disease and adaptation of individualized therapy. Until recently, genotyping has been mainly performed by Sanger sequencing. While next generation sequencing (NGS) enables the parallel analysis of multiple genes, the cost-value ratio of custom-made panels can be unfavorable for analyses of specific small genes. The aim of this study was to transfer genotyping of small genes involved in congenital coagulation and platelet disorders from Sanger sequencing to an NGS-based method. A LR-PCR approach for target enrichment of the entire genomic regions of the genes F7, F10, F11, F12, GATA1, MYH9, TUBB1 and WAS was combined with high-throughput sequencing on a MiSeq platform. NGS detected all variants that had previously been identified by Sanger sequencing. Our results demonstrate that this approach is an accurate and flexible tool for molecular genetic diagnostics of single small genes.

  1. EAMJ Congenital.indd

    African Journals Online (AJOL)

    2010-02-02

    Feb 2, 2010 ... Congenital afibrinogenaemia (CA), is a rare inherited bleeding disorder characterised by complete deficiency of fibrinogen in the plasma. Blood clotting tests are indefinitely prolonged in patients. The mode of inheritance is autosomal recessive. Typically patients present with excessive cord bleeding after ...

  2. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

    DEFF Research Database (Denmark)

    Goriely, Anne; Hansen, Ruth M S; Taylor, Indira B

    2009-01-01

    Genes mutated in congenital malformation syndromes are frequently implicated in oncogenesis, but the causative germline and somatic mutations occur in separate cells at different times of an organism's life. Here we unify these processes to a single cellular event for mutations arising in male germ...

  3. Bringing Antonovsky's salutogenic theory to life: A qualitative inquiry into the experiences of young people with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Silke Apers

    2016-03-01

    Full Text Available Objective: Antonovsky coined sense of coherence (SOC as the central concept of his salutogenic theory focusing on the origins of well-being. SOC captures the degree to which one perceives the world as comprehensible, manageable, and meaningful. Life events and resources are considered to be the building blocks of a person's SOC. However, mainly quantitative studies have looked into the role of life events and resources. Therefore, the present study aims to gain a deeper insight into the experiences of patients with congenital heart disease (CHD regarding resources and life events. Method: For this qualitative study, patients were selected from the sample of a preceding study on development of SOC (n = 429. In total, 12 young individuals with CHD who had either a weak (n = 6 or strong SOC (n = 6 over time were interviewed (8 women, median age of 20 years. Data analysis was based on the constant comparative method as detailed in the Qualitative Analysis Guide of Leuven. Commonalities and differences between patients from both groups were explored. Results: The following themes emerged: (1 self-concept; (2 social environment; (3 daytime activities; (4 life events and disease-related turning points; (5 stress and coping; and (6 illness integration. Additionally, the degree of personal control was identified as an overarching topic that transcended the other themes when comparing both groups of patients. Conclusion: These results may have implications for the structure and content of interventions improving well-being in young people with CHD.

  4. Early childhood experiences shaping vulnerability to Obsessive-Compulsive Disorder

    Directory of Open Access Journals (Sweden)

    Barbara Barcaccia

    2015-12-01

    Full Text Available According to the literature, inflated responsibility/sensitivity to guilt play a pivotal role in both the genesis and maintenance of Obsessive-Compulsive Disorder (OCD. They may be learned in childhood and adolescence, through particular experiences and parental rearing styles, involving criticism, excessively high standards, and social moralization. Preliminary data on the role of dysfunctional beliefs in the development/maintenance of OCD also show that non-affected family members of OC individuals score higher than controls in domains concerning responsibility, suggesting it might represent a candidate endophenotype for the disorder. Compulsive conducts, that far from being mechanical reactions are instead clearly goal-oriented, may be triggered by the need of preventing responsibility/guilt. Therefore, useful psychological interventions aimed at not only reappraising meanings associated with the specific early experiences connected to hyper-sensitivity to guilt, but also at developing a more general compassionate and forgiving stance towards oneself, may prove particularly effective.

  5. 66. King Faisal experience for cardiac surgery in adults with congenital heart disease: Outcome of primary and redo surgery

    Directory of Open Access Journals (Sweden)

    Raja Abou Elella

    2015-10-01

    Conclusion: Adult patients with congenital heart disease are prone for immediate postoperative multiple system complications, yet the majority of it is reversible, and their one year survival rate is excellent. Further follow up studies are required.

  6. The subjective experience of music in autism spectrum disorder.

    Science.gov (United States)

    Allen, Rory; Hill, Elisabeth; Heaton, Pamela

    2009-07-01

    Semi-structured interviews were conducted with 12 high-functioning adults on the autism spectrum in order to examine the nature of their personal experiences of music. The analysis showed that most participants exploit music for a wide range of purposes in the cognitive, emotional and social domains, but the autism spectrum disorder (ASD) group's descriptions of mood states reflected a greater reliance on internally focused (arousal) rather than externally focused (emotive) language, when compared with studies of typically developing individuals.

  7. Specific learning disorders and anxiety: a matter of school experience?

    Science.gov (United States)

    Chiappedi, Matteo; Baschenis, Ilaria M

    2016-02-01

    Specific learning disorders (SLDs) are a group of neuropsychological disorders which reduce a child's ability to read and/or write and/or use numbers. Internalizing disorders, and in particular anxiety, has been reported as a relatively common comorbidity in children with reading difficulties. We conducted this study in order to test if school experience (in terms of perceived support from the teacher) is associated with the development of anxiety. Twenty patients with SLDs (age: 8-13) were compared to 32 healthy subjects of the same age. All subjects filled the scale to measure anxiety derived from the Self-Administered Psychiatric Scales for Children and Adolescents (SAFA); results were compared using non-parametric statistics after verifying that scores were not normally distributed. Patients more often had a clinically significant level of anxiety (Mann Whitney U Test; Pschool experience perceived as positive and anxiety (Spearman's rho=- 0.925; Pschool experience for children with SLDs seems highly relevant also for their psychological well-being.

  8. Dissociative disorders and traumatic childhood experiences in transsexuals.

    Science.gov (United States)

    Kersting, Anette; Reutemann, Michael; Gast, Ursula; Ohrmann, Patricia; Suslow, Thomas; Michael, Nikolaus; Arolt, Volker

    2003-03-01

    In this first prevalence study of dissociative symptoms and different forms of childhood experiences among transsexuals, 41 transsexuals and 115 psychiatric inpatients were compared by means of the Interview for Dissociative Disorders (SCID-D-R), the Dissociative Experiences Scale (DES), and the Childhood Trauma Questionnaire (CTQ). The total score for the dissociative symptoms revealed no significant differences between the transsexuals and the psychiatric inpatients. However, the higher DES score among transsexuals compared with a normal population was found to be due largely to one item. A surprisingly high prevalence of emotional maltreatment was recorded. The results suggest that both the DES and the SCID-D-R have limited validity as instruments for screening and diagnosing dissociative disorders in transsexuals. Psychiatrists should be mindful of the possible existence of dissociative disorders in transsexual patients. Further investigations are needed to clarify the effects of traumatic childhood experiences on sexual identity in transsexuals and to throw more light on the phenomenological correlation between transsexualism and dissociative identity, using taxometric analyses.

  9. Comparison of Clinical Characteristics Between Congenital Fiber Type Disproportion Myopathy and Congenital Myopathy with Type 1 Fiber Predominance

    OpenAIRE

    Na, Sang-Jun; Kim, Woo-Kyung; Kim, Tai-Seung; Kang, Seong-Woong; Lee, Eun-Young; Choi, Young-Chul

    2006-01-01

    Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber predominance and smallness. Congenital myopathy with type 1 fiber predominance (CMT1P) is also a disti...

  10. Clinician experiences assessing work disability related to mental disorders.

    Science.gov (United States)

    Dewa, Carolyn S; Hees, Hiske; Trojanowski, Lucy; Schene, Aart H

    2015-01-01

    Medical certification is one of the basic administrative mechanisms used by social policies aimed at income protection. The assessment of work disability is central to the income protection application. Yet, there is evidence suggesting that determining work disability related to mental disorders is challenging. Although essential to the disability application process, few studies have looked at physician and other clinician experiences with the process. However, this type of information is critical to developing processes to support providers who participate in the assessments. This purpose of this paper is to explore the experiences of physicians and other clinicians assessing public long-term work disability related to mental disorders. This is an exploratory and descriptive study using qualitative methods. Clinician input was gathered through focus groups and individual in-depth interviews. Verbatim transcripts were analyzed to identify recurrent and significant themes that arose during the focus groups and individual interviews. Many of the experiences that the clinicians in this sample discussed related to the difficulty of trying to fill the roles of advocate and medical expert as well as the challenge of determining the impact of functional capacity and work ability. The findings also highlight the current gap in knowledge about the factors that affect successful functioning in general and at work in particular. Given the challenges created by the current state of knowledge, it may be useful to consider a category of "partial disability". In addition, the fact that work disability depends on the interaction between the experience of the mental disorder and specific job requirements and the fact that people applying for public long-term disability are not working, it might be helpful to offer a clear description and guidelines of the meaning of work ability.

  11. Clinician experiences assessing work disability related to mental disorders.

    Directory of Open Access Journals (Sweden)

    Carolyn S Dewa

    Full Text Available Medical certification is one of the basic administrative mechanisms used by social policies aimed at income protection. The assessment of work disability is central to the income protection application. Yet, there is evidence suggesting that determining work disability related to mental disorders is challenging. Although essential to the disability application process, few studies have looked at physician and other clinician experiences with the process. However, this type of information is critical to developing processes to support providers who participate in the assessments. This purpose of this paper is to explore the experiences of physicians and other clinicians assessing public long-term work disability related to mental disorders.This is an exploratory and descriptive study using qualitative methods. Clinician input was gathered through focus groups and individual in-depth interviews. Verbatim transcripts were analyzed to identify recurrent and significant themes that arose during the focus groups and individual interviews.Many of the experiences that the clinicians in this sample discussed related to the difficulty of trying to fill the roles of advocate and medical expert as well as the challenge of determining the impact of functional capacity and work ability. The findings also highlight the current gap in knowledge about the factors that affect successful functioning in general and at work in particular.Given the challenges created by the current state of knowledge, it may be useful to consider a category of "partial disability". In addition, the fact that work disability depends on the interaction between the experience of the mental disorder and specific job requirements and the fact that people applying for public long-term disability are not working, it might be helpful to offer a clear description and guidelines of the meaning of work ability.

  12. Posttraumatic stress disorder as a consequence of the POW experience.

    Science.gov (United States)

    Speed, N; Engdahl, B; Schwartz, J; Eberly, R

    1989-03-01

    To estimate the relative contributions of trauma and premorbid disposition in the development and persistence of posttraumatic stress disorder (PTSD) symptoms, we conducted structured psychiatric interviews of 62 former World War II POWs. Half these men satisfied DSM-III criteria for PTSD in the year following repatriation. Eighteen (29%) continued to meet the criteria for PTSD 40 years later. Family history of mental illness and preexisting psychopathology were at best only weakly correlated with persistent PTSD symptoms. The strongest predictors of PTSD were proportion of body weight lost and the experience of torture during captivity. This study demonstrates that former POWs frequently develop posttraumatic stress disorder and that for one half of those who develop the symptoms, they persist for over 40 years. Familial risk factors and preexisting psychopathology are superseded by the overwhelming nature of the trauma. The persistence of the symptoms for many years is a reflection of the severity of the trauma.

  13. Artificial urinary sphincter: 11-year experience in adolescents with congenital neuropathic bladder.

    Science.gov (United States)

    López Pereira, Pedro; Somoza Ariba, Ivan; Martínez Urrutia, M Jose; Lobato Romero, Roberto; Jaureguizar Monroe, Enrique

    2006-11-01

    We assess our experience over the last 11 years in the use of an artificial urinary sphincter (AUS) to treat urinary incontinence in children with neuropathic bladders. Between 1994 and 2005 an AUS was implanted in 35 patients (mean age 14.4; range 11.5-18). Upper urinary tract (UUT) evaluations and urodynamic studies were performed in all patients pre- and post-AUS implantation. Thirteen patients underwent enterocystoplasty combined with AUS placement and 22 underwent AUS implantation alone. An AUS was implanted in 35 patients. Mean follow-up is 5.5 years (range 0.4-11 years). Nine mechanical malfunctions occurred in seven patients (20%). Of the 22 patients who underwent AUS implantation alone, seven (31.2%) eventually required an enterocystoplasty because of unexpected bladder behaviour changes, usually within three years of AUS implantation. In seven patients (20%), a continent catheterisable stoma was made (before or during the follow-up) because of problems with clean intermittent catheterisation (CIC) through the urethra. Three AUS (8.6%) were removed because of sphincter erosion at the bladder neck. All 32 patients (91.4%) with the AUS currently in place are dry, three void their bladders spontaneously, and 29 need CIC. AUS must be considered as an elective treatment in the surgical management of these patients because it produces better continence rates than other methods. However, these patients need long-term follow-up because their bladder behaviour may undergo unexpected clinically asymptomatic changes that could negatively affect their UUT and require bladder augmentation.

  14. Experiences of women living with borderline personality disorder

    Directory of Open Access Journals (Sweden)

    N. Ntshingila

    2016-12-01

    From the findings obtained by means of the interviews of women living with borderline personality disorder, it was evident that there were childhood experiences of living in an unsafe space, related to unhealthy family dynamics, boundary violations and educational challenges. They experienced chronic feelings of emptiness in their relationships with the self. They also presented with a pattern of unstable interpersonal relationships and compromised mental health, which was apparent through the early onset of mental problems, emotional upheaval, looking for emotional escape and having different trigger factors. Lastly, all these women yearned for facilitated mental health.

  15. Genetics Home Reference: congenital fibrosis of the extraocular muscles

    Science.gov (United States)

    ... the extraocular muscles congenital fibrosis of the extraocular muscles Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that ...

  16. TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.

    Science.gov (United States)

    Dulary, Eudoxie; Potelle, Sven; Legrand, Dominique; Foulquier, François

    2017-04-01

    Congenital Disorders of Glycosylation (CDG) are rare inherited diseases causing glycosylation defects responsible for severe growth and psychomotor retardations in patients. Whereas most genetic defects affect enzymes directly involved in the glycosylation process, like glycosyltransferases or sugar transporters, recent findings revealed the impact of gene mutations on proteins implicated in both Golgi vesicular trafficking and ion homeostasis. TMEM165 is one of these deficient Golgi proteins found in CDG patients whose function in the secretory pathway has been deduced from several recent studies using TMEM165 deficient mammalian cells or yeast cells deficient in Gtd1p, the yeast TMEM165 ortholog. These studies actually confirm previous observations based on both sequence and predicted topology of this transmembrane protein and the phenotypes of human and yeast cells, namely that TMEM165 is very probably a transporter involved in ion homeostasis. Whereas the exact function of TMEM165 remains to be fully characterized, several studies hypothesize that TMEM165 could be a Golgi localized Ca2+/H+ antiporter. However, recent data also support the role of TMEM165 in Golgi Mn2+ homeostasis then arguing for a putative role of Mn2+ transporter for TMEM165 essential to achieve the correct N-glycosylation process of proteins in the secretory pathway. This manuscript is a review of the current state of knowledge on TMEM165 deficiencies in Congenital Disorders of Glycosylation as well as new data on function of TMEM165 and some speculative models on TMEM165/Golgi functions are discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. Women With Dissociative Identity Disorder Who Experience Intimate Partner Violence.

    Science.gov (United States)

    Snyder, Briana L

    2018-02-15

    Women with dissociative identity disorder (DID) are significantly more likely than other women to experience intimate partner violence (IPV). The purpose of this qualitative investigation was to explicate the experiences of women with DID who experience IPV and describe how they cope. Grounded theory was used to conduct this investigation. Purposive sampling was used to recruit participants (N = 5) for face-to-face, semi-structured interviews. Verbatim transcripts were coded and categorized, and reflective memos were developed to explicate substantive categories. Women with DID used coping strategies that were consistent with their diagnoses, such as switching and dissociating. These coping mechanisms reflect past self-preservation strategies that were developed in association with severe childhood maltreatment. Women with DID who experienced IPV sought to mitigate and safeguard themselves from danger using strategies they developed as maltreated children. Nurses can use these findings to better recognize and understand the motivations and behaviors of women with DID who experience IPV. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.]. Copyright 2018, SLACK Incorporated.

  18. Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

    Science.gov (United States)

    Krishna, Shri H; McKinney, Alexander M; Lucato, Leandro T

    2014-04-01

    Numerous congenital-genetic inborn errors of metabolism (CIEMs) have been identified and characterized in detail within recent decades, with promising therapeutic options. Neuroimaging is becoming increasingly utilized in earlier stages of CIEMs, and even in asymptomatic relatives of patients with a CIEM, so as to monitor disease progress and treatment response. This review attempts to summarize in a concise fashion the neuroimaging findings of various CIEMs that may present in adulthood, as well as those that may persist into adulthood, whether because of beneficial therapy or a delay in diagnosis. Notably, some of these disorders have neuroimaging findings that differ from their classic infantile or early childhood forms, whereas others are identical to their early pediatric forms. The focus of this review is their appearance on routine magnetic resonance imaging sequences, with some basic attention to the findings of such CIEMs on specialized neuroimaging, based on recent or preliminary research. The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or globoid cell leukodystrophy, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharidoses, and Salla diseases), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, myoclonic epilepsy with ragged red fibers, Leigh disease, and Kearns-Sayre syndrome), urea cycle disorders, several organic acidemias (including phenylketonuria, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including Alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or Pelizaeus Merzbacher, Wilson, and Huntington diseases), and several

  19. School Experiences of Adolescents With Attention-Deficit/Hyperactivity Disorder.

    Science.gov (United States)

    Wiener, Judith; Daniels, Lesley

    2016-11-01

    This article reports on a qualitative study of the school experiences of adolescents with attention-deficit/hyperactivity disorder (ADHD) in the context of quantitative research on teacher attitudes and practices, adolescent self-appraisals, and social and family relationships. Twelve adolescents with ADHD participated in in-depth, semistructured interviews addressing major aspects of school life. Using a modified grounded theory framework, researchers coded these interviews. Three themes emerged: (a) support for a performance deficit, (b) academic and social engagement, and (c) moving from dependence to independence. What is most striking is the low level of agency students demonstrated; that is, rather than acting with purpose on their environments, they seemed to react to things that happened to them. These findings suggest that teachers of adolescents with ADHD know about the nature of the disorder, understand that students' difficulties with organization and academic performance are not typically intentional, use evidence-based interventions to support students, and provide the monitoring and scaffolding needed for academic achievement. The students also provide specific suggestions for parents and peers regarding the supports they need to be successful. © Hammill Institute on Disabilities 2015.

  20. Experiences of Siblings of Individuals with Autism Spectrum Disorders

    Science.gov (United States)

    Angell, Maureen E.; Meadan, Hedda; Stoner, Julia B.

    2012-01-01

    The purpose of this study was to explore the experiences of siblings of individuals with autism spectrum disorders (ASDs) and identify their self-reported support needs. We conducted in-person semi-structured interviews with 12 siblings aged 7 to 15 of children aged 6 to 15 with ASDs. Employing a qualitative collective case study research method, we conducted cross-case analyses to address our research questions. Three major themes emerged: (a) descriptions of the sibling subsystem (b) cohesion between and among the siblings, and (c) adaptability of the participant siblings to having family members with ASDs. Discussion of these findings and recommendations for future research contributes to the existing literature on siblings of children with disabilities. PMID:22928104

  1. Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.

    Science.gov (United States)

    Choi, Rihwa; Woo, Hye In; Choe, Byung-Ho; Park, Seungman; Yoon, Yeomin; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Song, Junghan; Kim, Dong Sub; Kwon, Soonhak; Park, Hyung-Doo

    2015-04-15

    Rare inherited metabolic diseases with neurological and gastrointestinal manifestations can be misdiagnosed as other diseases or remain as disorders with indeterminate etiologies. This study aims to provide evidence to recommend the utility of whole exome sequencing in clinical diagnosis of a rare inherited metabolic disease. A 4-month-old female baby visited an outpatient clinic due to poor weight gain, repeated seizure-like episodes, developmental delay, and unexplained hepatomegaly with abnormal liver function test results. Although liver biopsy revealed moderate fibrosis with a suggested diagnosis of glycogen storage disease (GSD), no mutations were identified either by single gene approach for GSD (G6PC and GAA) or by next generation sequencing panels for GSD (including 21 genes). Whole exome sequencing of the patient revealed compound heterozygous mutations of PMM2: c.580C>T (p.Arg194*) and c.713G>C (p.Arg238Pro) which mutations were associated with congenital disorder of glycosylation Ia (CDG-Ia: PMM2-CDG). We successfully applied exome sequencing to diagnose the first reported Korean patient with CDG-Ia, which was misdiagnosed as GSD. Whole exome sequencing may prove to be the preferred strategy for analysis of clinical features that do not readily suggest a specific diagnosis, such as those observed in inherited metabolic diseases, including CDG. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. The experience of black parents/caretakers with the births and care of a child with profound congenital defects

    Directory of Open Access Journals (Sweden)

    M.S. Mabaso

    1990-09-01

    Full Text Available The reaction of Black families to the birth and care of a baby with profound congenital defects was researched using twenty case studies. It was found that the families went through stages of the grieving process, that they shifted from the Western/Christian viewpoint to the traditional viewpoint in their struggle to cope and that they find the existing services grossly inadequate.

  3. Congenitally deaf children's care trajectories in the context of universal neonatal hearing screening: a qualitative study of the parental experiences

    OpenAIRE

    Hardonk, Stefan; Desnerck ., Greetje; Loots, Gerrit; van Hove, Geert; Van Kerschaver, Erwin; Sigurjónsdóttir, Hanna Björg; Vanroelen, Christophe; Louckx, Fred

    2011-01-01

    The objective of this study is to examine the early care trajectories of congenitally deaf children from a parental perspective, starting with universal neonatal hearing screenings. The analysis using a three-dimensional care trajectory concept is aimed at developing a basic typology of postscreening care trajectories. Children with severe/profound hearing loss, registered in the Flanders' (Belgium) universal neonatal hearing screening program, born between 1999 and 2001. Thematic content ana...

  4. [Risk factors for surgery of congenital heart disease in adults: twenty-two years of experience. Who should operate them?].

    Science.gov (United States)

    Aroca, Angel; Polo, Luz; Pérez-Farinós, Napoleón; González, Ana E; Bret, Montserrat; Aguilar, Elizabeth; Oliver, José M

    2014-01-01

    To assess the association between mortality in surgery of congenital heart disease in adults, and factors related to patients and operations. Descriptive study of operations performed by specialized surgeons in congenital heart surgery (238), adult acquired surgery (117), and specialty residents (108). The association of mortality with surgical risk and complexity, specialization of surgeon, cardiopulmonary by-pass and aortic cross clamping was assessed fitting logistic regression models. A total of 463 operations were included (442 with cardiopulmonary by-pass) in the study performed between 1991 and 2012. Median age at surgery: 34; 52.8% were women. First surgery: 295, reoperation: 168. Median score of Aristotle was 6.8, with significantly higher complexity since 2001, after restructuring the Unit. Overall hospital mortality was 3.9%. Mortality was significantly associated to number of previous surgeries (OR: 5.02; 95%CI: 1.44-17.52), operations by acquired heart disease surgeons (OR: 3.53; 95%CI: 1.14-10.98), higher Aristotle (OR: 1,64; 95%CI: 1.18-2.29), and high cardiopulmonary by-pass time (OR: 1.13; 95%CI: 1.07-1.19). Surgery of congenital heart disease in adults has been performed with low mortality. High complexity interventions, prolonged cardiopulmonary by-pass times and multiple reoperations were associated to higher mortality. Participation of cardiac surgeons specialized in congenital heart disease is associated with better outcomes. Copyright © 2013 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  5. Supporting someone with an eating disorder: a systematic review of caregiver experiences of eating disorder treatment and a qualitative exploration of burnout management within eating disorder services

    OpenAIRE

    Fowler, Emma

    2016-01-01

    Aims: Eating disorder recovery is often supported by caregivers and mental health professionals. This research portfolio focuses on the experiences of supporting someone with an eating disorder from the perspective of the caregivers and also mental health professionals. The aims of this research portfolio are: Firstly, to systematically review the published qualitative literature relating to the experiences of caregivers supporting someone during eating disorder treatment; and ...

  6. Quality of Patient Information Websites About Congenital Heart Defects: Mixed-Methods Study of Perspectives Among Individuals With Experience of a Prenatal Diagnosis.

    Science.gov (United States)

    Carlsson, Tommy; Melander Marttala, Ulla; Wadensten, Barbro; Bergman, Gunnar; Axelsson, Ove; Mattsson, Elisabet

    2017-09-12

    When a heart defect is prenatally diagnosed in the fetus, expectant parents experience a great need for information about various topics. After the diagnosis, the Web is used for supplemental information, and the scarcity of research calls attention to the need to explore patient information websites from the perspectives of the intended consumers. The overarching aim of this study was to explore the quality of Swedish patient information websites about congenital heart defects, from the perspectives of individuals with experience of a prenatal diagnosis of congenital heart defect in the fetus. This was a mixed-methods study of websites identified through systematic searches in the two most used Web-based search engines. Of the total 80 screened hits, 10 hits led to patient information websites about congenital heart defects. A quality assessment tool inspired by a previous study was used to evaluate each website's appearance, details, relevance, suitability, information about treatment choices, and overall quality. Answers were given on a 5-point Likert scale, ranging from 1, representing the lowest score, to 5, representing the highest score. Each website was assessed individually by persons with experience of continued (n=4) and terminated (n=5) pregnancy following a prenatal diagnosis. Assessments were analyzed with Kendall's coefficient of concordance W, Mann-Whitney U test, Friedman's test, and a Wilcoxon-Nemenyi-McDonald-Thompson test. In addition, each assessor submitted written responses to open-ended questions in the quality assessment tool, and two joint focus group discussions were conducted with each group of assessors. The qualitative data were analyzed with inductive manifest content analysis. Assessments represented a low score (median=2.0) for treatment choices and moderate scores (median=3.0) for appearance, details, relevance, suitability, and overall quality. No website had a median of the highest achievable score for any of the questions in the

  7. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  8. Congenital Scoliosis.

    Science.gov (United States)

    Moramarco, M; Weiss, H R

    2015-11-17

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found , this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology [5]. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  9. Management of children with disorders of sex development: 20-year experience in southern Thailand.

    Science.gov (United States)

    Jaruratanasirikul, Somchit; Engchaun, Vorapun

    2014-05-01

    Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand. The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively reviewed. Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3-5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females. Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.

  10. The changing epidemiology of congenital heart disease

    NARCIS (Netherlands)

    van der Bom, Teun; Zomer, A. Carla; Zwinderman, Aeilko H.; Meijboom, Folkert J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart

  11. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2013-01-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  12. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2014-11-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  13. ALTERED BOLD RESPONSE WITHIN THE CORE FACE-PROCESSING NETWORK IN CONGENITAL PROSOPAGNOSIA.

    Science.gov (United States)

    Németh, Kornél; Zimmer, Márta; Nagy, Krisztina; Bankó, Éva M; Vidnyanszky, Zoltán; Vakli, Pál; Kovács, Gyula

    2015-05-30

    Congenital prosopagnosia is a life-long disorder of face perception. To study the neural backgrounds of congenital prosopagnosia we measured the blood oxygen level-dependent response of congenital prosopagnosic participants, using functional magnetic resonance imaging. We tested three persons of the family (father, daughter and son), having symptoms of congenital prosopagnosia, as well as healthy controls, using combined neuropsychological and functional magnetic resonance imaging methods. To reveal the neural correlates of the impairments, blood oxygen level-dependent responses within the occipito-temporal cortex were measured to faces and nonsense object images in a block-design experiment. Neuropsychological tests demonstrated significant impairments of face perception/recognition in each subject. We found that the activity of the fusiform and occipital face areas as well as of the lateral occipital cortex was significantly reduced in congenital prosopagnosic participants when compared to controls. Analysis of the hemodynamic response function revealed a lower peak response, but also a significantly faster and stronger decay of the blood oxygen level-dependent response in the occipito-temporal areas in congenital prosopagnosic participants when compared to controls. Our results emphasize the dysfunction of the core face processing system, as well as the lateral occipital complex, in congenital prosopagnosia. Further, the functional impairment of these areas is signalled best by the altered hemodynamic response function, showing abnormally low initial peak and stronger and faster decay in the later parts of the blood oxygen level-dependent response.

  14. Reported pathological childhood experiences associated with the development of borderline personality disorder

    National Research Council Canada - National Science Library

    Zanarini, M C; Williams, A A; Lewis, R E; Reich, R B; Vera, S C; Marino, M F; Levin, A; Yong, L; Frankenburg, F R

    1997-01-01

    OBJECTIVE: The purpose of this study was to assess a full range of pathological childhood experiences reported by patients with criteria- defined borderline personality disorder and comparison patients...

  15. Early detection of neurodevelopment disorders in the first years of life in children with congenital heart diseases

    Directory of Open Access Journals (Sweden)

    Mª del Rosario Mendoza Carretero

    2017-06-01

    Full Text Available This study was carried out in order to report on existing morbidities in the development of children with congenital heart disease (CHD who underwent Extracorporeal Circulation (ECC surgery. The purpose of the study is also to design guidelines for the monitoring and early intervention of these conditions. A quantitative study (N=30, based on the following inclusion criteria: age, type of CHD and surgery by ECC, located in an age range of 11 to 42 months, was made. The motor, cognitive and language development was evaluated with help of the Scales of Infant and Toddler Development Bayley-III. The results highlight that the participants present morbidities in the communicative-linguistic and the motor areas. There are biomedical indicators (age in the maturational development. In order to normalize their development the children would need to participate in early intervention programs (EIP. The conclusion is that this population needs early intervention (EI and interdisciplinary protocols for detection, screening and intervention that, on this time, are not available.

  16. Physiological basis for the etiology, diagnosis, and treatment of adrenal disorders: Cushing's syndrome, adrenal insufficiency, and congenital adrenal hyperplasia.

    Science.gov (United States)

    Raff, Hershel; Sharma, Susmeeta T; Nieman, Lynnette K

    2014-04-01

    The hypothalamic-pituitary-adrenal (HPA) axis is a classic neuroendocrine system. One of the best ways to understand the HPA axis is to appreciate its dynamics in the variety of diseases and syndromes that affect it. Excess glucocorticoid activity can be due to endogenous cortisol overproduction (spontaneous Cushing's syndrome) or exogenous glucocorticoid therapy (iatrogenic Cushing's syndrome). Endogenous Cushing's syndrome can be subdivided into ACTH-dependent and ACTH-independent, the latter of which is usually due to autonomous adrenal overproduction. The former can be due to a pituitary corticotroph tumor (usually benign) or ectopic ACTH production from tumors outside the pituitary; both of these tumor types overexpress the proopiomelanocortin gene. The converse of Cushing's syndrome is the lack of normal cortisol secretion and is usually due to adrenal destruction (primary adrenal insufficiency) or hypopituitarism (secondary adrenal insufficiency). Secondary adrenal insufficiency can also result from a rapid discontinuation of long-term, pharmacological glucocorticoid therapy because of HPA axis suppression and adrenal atrophy. Finally, mutations in the steroidogenic enzymes of the adrenal cortex can lead to congenital adrenal hyperplasia and an increase in precursor steroids, particularly androgens. When present in utero, this can lead to masculinization of a female fetus. An understanding of the dynamics of the HPA axis is necessary to master the diagnosis and differential diagnosis of pituitary-adrenal diseases. Furthermore, understanding the pathophysiology of the HPA axis gives great insight into its normal control. © 2014 American Physiological Society.

  17. Junctional ectopic tachycardia following repair of congenital heart defects-experience in multimodal management from a West African Centre.

    Science.gov (United States)

    Entsua-Mensah, Kow; Aniteye, Ernest; Sereboe, Lawrence Agyemang; Tettey, Mark Mawutor; Edwin, Frank; Tamatey, Martin; Delia, Ibrahim; Gyan, Kofi Bafoe

    2012-01-01

    Postoperative junctional ectopic tachycardia (JET) is a rare and transient phenomenon occurring after repair of congenital heart defects. Report on this arrhythmia in the subregion is rare. We set out to determine the incidence of this arrhythmia and review the treatment and outcomes of treatment in our centre. Retrospective search of the records of all patients aged 18 years and below admitted into the intensive care unit (ICU) following repair or palliation of a congenital heart defect over 5 years, from January 1, 2006 to December 31, 2010. A review of clinical notes, operative records, anaesthetic charts, cardiopulmonary bypass (CPB) records, nursing observation charts, electrocardiograms (ECGs) and out-patient follow-up records was undertaken. 510 children under 18 years were enlisted. 7 cases of postoperative JET were recorded, (1.37%). 184 (36.1%) of these were performed under CPB. All JET cases were from cases done under CPB, 3.8%. Median age was 3 years and median weight 11.3 kg. No patient was febrile at diagnosis. 4 patients had amiodarone administration, 5 had magnesium sulphate infusion, 2 patients had direct current shock (DCS) whilst 3 patients had all three therapeutic modalities. All patients had control of the arrhythmia with conversion to sinus rhythm and no recurrence. We report a JET incidence of 1.37% among children undergoing CPB for repair of congenital heart defects. We demonstrate the therapeutic effectiveness of amiodarone, magnesium sulphate infusions and DCS alone or in combination in the management of JET on various substrates with good outcome.

  18. Symptoms of Autism Among Children with Congenital Deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

  19. Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

    Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

  20. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  1. Adolescent Boys with an Autism Spectrum Disorder and Their Experience of Sexuality: An Interpretative Phenomenological Analysis

    Science.gov (United States)

    Dewinter, Jeroen; Van Parys, Hanna; Vermeiren, Robert; van Nieuwenhuizen, Chijs

    2017-01-01

    This qualitative study explored how adolescent boys with autism spectrum disorder experience their sexuality. Previous research has demonstrated that sexuality is a developmental task for boys with autism spectrum disorder, as it is for their peers. Case studies have suggested a relation between autism spectrum disorder and atypical sexual…

  2. Individual Characteristics, Familial Experience, and Psychopathology in Children of Mothers with Borderline Personality Disorder

    Science.gov (United States)

    Barnow, Sven; Spitzer, Carsten; Grabe, Hans J.; Kessler, Christoph; Freyberger, Harald J.

    2006-01-01

    Objective: The aim of this study was to examine individual characteristics, familial experience, and psychopathology of children of mothers with borderline personality disorder (BPD). Method: Children of mothers with BPD were compared to children of mothers (1) with depressive disorders, (2) with cluster C personality disorders, and (3) without…

  3. Fathers' Experience With Autism Spectrum Disorder: Nursing Implications.

    Science.gov (United States)

    Frye, Linda

    2016-01-01

    Autism spectrum disorder (ASD) is a lifelong condition characterized by very mild symptoms to severe impairments in communication skills, social interactions, and unusual behaviors that interfere with independent functioning and interactions with others. ASD may cause financial, social, and emotional difficulties that negatively affect the entire family. The main focus of current research in caregivers of children with ASD focuses on the mothers rather than fathers or both parents, and no studies have used the fathers' words to describe their experience with ASD. Fathers have an important role to improve outcomes for their children receiving therapy. With more fathers taking on the primary caregiver role, it is important to understand their experience with ASD and their needs to help them actively engage in their role as fathers. The purpose of this study was to describe fathers' experience with ASD using their own words and identify any resources needed to help them actively engage in their role as a father of a child with ASD. A single-case, multiple-participant, phenomenological approach case study was conducted to describe the experience of fathers of children with ASD. The case was defined as White non-Hispanic (the population identified as having the highest incidence of ASD) fathers who are living in the same home with their child(ren) who has/have a formal diagnosis of ASD. Fathers answered open-ended questions about their experience with ASD, including the challenges they face, their advice for other fathers of children with ASD, and what they need to overcome the challenges of ASD. The theoretical model for the study was the Resiliency Model of Family Stress, Adjustment, and Adaptation. The model was designed to help health care professionals identify a family's strengths and weaknesses as they face existing and new stressors related to a long-term medical condition and then provide interventions to help the family become resilient so they can meet the

  4. COCHLEAR IMPLANT AND AUTISM SPECTRUM DISORDER: THE EXPERIENCE OF MOTHERS

    Directory of Open Access Journals (Sweden)

    Carolina Ruiz Longato-Morais

    2017-12-01

    Full Text Available Cochlear implant (CI, a device surgically implanted in the ear, may be indicated for people with severe or profound hearing loss (HI. A significant number of children are affected by HI and other comorbidities, including Autism Spectrum Disorder (ASD. The objective of this study was to understand the experience of mothers of children with CI and diagnosis of ASD. The study had qualitative nature and the method used was phenomenological investigation, which consists in the apprehension of the phenomenon as it manifests itself to the person who experiences it. Six mothers of children with CI and diagnosis of ASD were interviewed. The statements were submitted to the process of phenomenological analysis and were unveiled in seven thematic categories: The impact of multiple disabilities; Exclusive dedication to the children; "Twenty-four hours running after it"; "The cochlear implant was a blessing in the life of both of us"; "It is as if he were speaking"; Need for psychosocial support; How they feel now. The mothers revealed how they are subjectively affected in their relationship with the child with CI and diagnosis of ASD, indicating negative impact on the quality of their life. The CI meant the possibility of the child to participate in the audible world and of they, as mother, to have more access to their world. Hope in the development of their child's speech becomes the inspiration to continue the trajectory. The need for supporting services aimed at parents, the importance of interdisciplinary teamwork and the encouragement of the support network are highlighted in the study.

  5. Congenital hemangioma.

    Science.gov (United States)

    Amouri, Meriem; Mesrati, Hela; Chaaben, Hend; Masmoudi, Abderrahmen; Mseddi, Madiha; Turki, Hamida

    2017-01-01

    Congenital hemangiomas (CHs) are fully developed hemangiomas that are present at birth. There are 2 possible types: rapidly involuting CHs (RICHs) and noninvoluting CHs (NICHs). We conducted a retrospective study (2008-2012) of 6 patients (2 females, 4 males) with CHs (mean age, 16 days). We analyzed the epidemiology, clinical characteristics, and clinical outcome of CHs over this 5-year period.

  6. Congenital Defects.

    Science.gov (United States)

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  7. Detection and investigation of temporal clusters of congenital anomaly in Europe: seven years of experience of the EUROCAT surveillance system.

    Science.gov (United States)

    Dolk, Helen; Loane, Maria; Teljeur, Conor; Densem, James; Greenlees, Ruth; McCullough, Nichola; Morris, Joan; Nelen, Vera; Bianchi, Fabrizio; Kelly, Alan

    2015-11-01

    Detection and investigation of congenital anomaly clusters is one part of surveillance to detect new or changing teratogenic exposures in the population. The EUROCAT (European Surveillance of Congenital Anomalies) cluster monitoring system and results are described here. Monitoring was conducted annually from 2007 to 2013 for 18 registries covering an annual birth population up to 0.5 million births. For each registry and 72 anomaly subgroups, the scan "moving window" technique was used to detect clusters in time occurring within the last 2 years based on estimated date of conception. Registries conducted preliminary investigations using a standardised protocol to determine whether there was cause for concern, and expert review was used at key points. 165 clusters were detected, a rate of 3.4% of all 4823 cluster tests performed over 7 years, more than expected by chance. Preliminary investigations of 126 new clusters confirmed that 35% were an unusual aggregation of cases, while 56% were explained by data quality or diagnostic issues, and 9% were not investigated. For confirmed clusters, the registries' course of action was continuing monitoring. Three confirmed clusters continued to grow in size for a limited period in subsequent monitoring. This system is best suited to early detection of exposures which are sudden, widespread and/or highly teratogenic, and was reassuring in demonstrating an absence of a sustained exposure of this type. Such proactive monitoring can be run efficiently without overwhelming the surveillance system with false positives, and serves an additional purpose of data quality control.

  8. 'Not just right' experiences and incompleteness in body dysmorphic disorder.

    Science.gov (United States)

    Summers, Berta J; Matheny, Natalie L; Cougle, Jesse R

    2017-01-01

    The current studies examined the role of 'not just right' experiences (NJREs) and incompleteness (INC) in body dysmorphic disorder (BDD). In Study 1, a clinical BDD sample endorsed more severe NJREs than healthy controls, when controlling co-occurring symptoms of depression and anxiety. In Study 2, INC predicted reactivity to an in vivo task designed to evoke BDD-related concerns in an unselected sample. Study 3 demonstrated a positive relationship between INC and BDD symptom severity in a community sample. Study 4 examined in vivo sensory NJRE tasks and INC in a sample high and low in BDD symptoms. The high symptom group reported greater INC and reactivity to a visual NJRE task than their low symptom counterparts, when controlling for co-occurring symptoms of depression, anxiety, and OC symptoms. No group differences were observed for tasks assessing auditory and tactile NJREs. These studies demonstrate a unique relationship between INC/NJREs and BDD. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  9. Genetics Home Reference: hypomyelination and congenital cataract

    Science.gov (United States)

    ... fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the ...

  10. Severe congenital cyclic neutropenia: A case report

    OpenAIRE

    Patil, Vidyavathi H.; Hugar, Shivayogi M; Balikai, Girish; Patil, Sudha

    2016-01-01

    Congenital cyclic neutropenia syndrome is a constitutional genetic disorder which is characterized by very low number of neutrophils (neutropenia). Patients suffering from this disorder clinically present with neutropenia at early age, history of recurrent fever, ulcerations in the oral cavity, gingivitis, and other recurrent infections. This paper describes a case report of a child with recurrent mouth ulcers, fever, and later diagnosed with severe congenital cyclic neutropenia. This also em...

  11. Experiences of Diagnosing Autism Spectrum Disorder: A Survey of Professionals in the United Kingdom

    Science.gov (United States)

    Rogers, Claire L.; Goddard, Lorna; Hill, Elisabeth L.; Henry, Lucy A.; Crane, Laura

    2016-01-01

    To date, research exploring experiences of diagnosing autism spectrum disorder has largely focused on parental perspectives. In order to obtain a more complete account of the autism spectrum disorder diagnostic process, it is essential that the views and experiences of professionals are heard. In this study, 116 multidisciplinary professionals…

  12. Transcatheter Closure of Congenital Coronary Artery Fistulas with a Giant Coronary Artery Aneurysm in Children: Experiences from a Single Center

    Science.gov (United States)

    Li, Yi-Fan; Zhang, Zhi-Wei; Wang, Shu-Shui; Xie, Zhao-Feng; Zhang, Xu; Li, Yu-Fen

    2017-01-01

    Background: Transcatheter closure of congenital coronary artery fistulas (CCAFs) is an alternative therapy to surgery; however, data regarding transcatheter closure for CCAF with a giant coronary artery aneurysm (CAA) in pediatric patients are still limited due to the rarity of the disease. We aimed to evaluate the efficacy and safety of transcatheter closure for CCAF with a giant CAA in a pediatric population at a single center. Methods: Medical records of pediatric patients (aneurysm dilation after the second intervention. One patient experienced thrombus formation within the CAA after the procedure. Among those with closure at the entry point of the CAA, a mild-to-moderate residual shunt was detected in three patients. Conclusions: Transcatheter closure appears to be a safe and effective alternative therapy for CCAF with a giant CAA in the pediatric population. Closure at the entry point of the CAA, and closure at both the entry and exit points when feasible, may reduce the risk of postinterventional complications. PMID:28776543

  13. Impact of operator experience on the variability of fetal lung volume estimation by 3D-ultrasound (VOCAL) and magnetic resonance imaging in fetuses with congenital diaphragmatic hernia.

    Science.gov (United States)

    Strizek, B; Cos Sanchez, T; Khalifé, J; Jani, J; Cannie, M

    2015-05-01

    To evaluate the impact of operator experience in volumetric measurements on intra- and inter-observer variability of lung volume estimation by 3-dimensional (3D) ultrasound and magnetic resonance imaging (MRI) in fetuses with congenital diaphragmatic hernia (CDH). We conducted a retrospective single-center study. Total fetal lung volume (TFLV) was measured twice using 52 stored 3D-ultrasound volumes and 52 corresponding MRI exams by a fetal medicine specialist with no experience in volumetric measurements and two operators experienced in the respective techniques. Bland-Altman analysis was performed to evaluate intra- and inter-observer variability. Measurements of TFLV by 3D-ultrasound showed higher intra-observer variability compared with MRI irrespective of operator experience, with narrower 95% limits of agreement on MRI as compared with ultrasound measurements. Similarly, 3D-ultrasound showed higher inter-observer variability as compared with MRI. Finally the 95% limits of agreement at ultrasound were quite comparable for intra-observer variability between the experienced and the inexperienced operator. Our study shows that operator experience has an impact on the variability of TFLV and, in the absence of experience in volumetric measurements, estimation of TFLV in fetuses with CDH by 3D-ultrasound shows higher variability than MRI measurements, but even in experienced hands variability is greater for 3D-ultrasound.

  14. Hypertensive disorders in pregnancy: experience with 442 recent ...

    African Journals Online (AJOL)

    Objective: To determine the incidence, pattern,and outcome of pregnancies complicatedwith hypertensive disorders at amajor university teaching hospital in Nigeria. Methods: A descriptive review of 442 consecutive cases of hypertensive disorders in pregnancy. Statistical analysis was with Fisher's exact test, Relative risk, ...

  15. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  16. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  17. The body as a simulacrum of identity: the subjective experience in the eating disorders.

    Science.gov (United States)

    Brogna, Patrizia; Caroppo, Emanuele

    2010-01-01

    This study aims at better understanding the subjective experience, the so-called Erlebnis, in individuals diagnosed with Eating Disorders (ED). We shall highlight the particular way in which people with such disorders perceive their own bodies and specifically how they perceive their bodies in the presence of other people. To this end we shall analyze the subjective experience by means of two concepts as described by French philosopher Jean-Paul Sartre: "body-self" and "body-forothers". Our hypothesis is that some people suffering from eating disorders, especially those with a diagnosis of Eating Disorders Not Otherwise Specified (EDNOS), experience their body mainly as body-for-others. Rather than a diagnostic category, EDNOS could be conceived as an anthropological configuration vulnerable to ED. Eating disorders appear as an "identity disorder" characterized by a suspension of the experiential polarity between self and other-than-self.

  18. The body as a simulacrum of identity: the subjective experience in the eating disorders

    Directory of Open Access Journals (Sweden)

    Patrizia Brogna

    2010-12-01

    Full Text Available This study aims at better understanding the subjective experience, the so-called Erlebnis, in individuals diagnosed with Eating Disorders (ED. We shall highlight the particular way in which people with such disorders perceive their own bodies and specifically how they perceive their bodies in the presence of other people. To this end we shall analyze the subjective experience by means of two concepts as described by French philosopher Jean-Paul Sartre: "body-self" and "body-forothers". Our hypothesis is that some people suffering from eating disorders, especially those with a diagnosis of Eating Disorders Not Otherwise Specified (EDNOS, experience their body mainly as body-for-others. Rather than a diagnostic category, EDNOS could be conceived as an anthropological configuration vulnerable to ED. Eating disorders appear as an "identity disorder" characterized by a suspension of the experiential polarity between self and other-than-self.

  19. Is there a difference in subjective experience of cognitive function in patients with unipolar disorder versus bipolar disorder?

    DEFF Research Database (Denmark)

    Miskowiak, Kamilla; Vinberg, Maj; Christensen, Ellen Magrethe

    2012-01-01

    Background: Cognitive dysfunction in unipolar disorder (UD) and bipolar disorder (BD) may persist into remission and affect psychosocial function. Executive and memory deficits during remission may be more pronounced in BD than UD. However, patients' subjective experience of cognitive difficulties...... at their initial consultation at the clinic. Results: Patients experienced mild to moderate cognitive impairment despite being in partial or full remission, but there were no differences in subjective difficulties between BD and UD. Subjective cognitive dysfunction was predicted by depression severity, anxiety...

  20. Acute movement disorders in children: experience from a developing country.

    Science.gov (United States)

    Goraya, Jatinder Singh

    2015-03-01

    We describe acute movement disorders in 92 children, aged 5 days to 15 years, from an Indian tertiary hospital. Eighty-nine children had hyperkinetic movement disorders, with myoclonus in 25, dystonia in 21, choreoathetosis in 19, tremors in 15, and tics in 2. Tetany and tetanus were seen in 5 and 2 children, respectively. Hypokinetic movement disorders included acute parkinsonism in 3 children. Noninflammatory and inflammatory etiology were present in 60 and 32 children, respectively. Benign neonatal sleep myoclonus in 16 and opsoclonus myoclonus syndrome in 7 accounted for the majority of myoclonus cases. Vitamin B12 deficiency in 13 infants was the most common cause of tremors. Rheumatic fever and encephalitis were the most common causes of acute choreoathetosis. Acute dystonia had metabolic etiology in 6 and encephalitis and drugs in 3 each. Psychogenic movement disorders were seen in 4 cases only, although these patients may be underreported. © The Author(s) 2014.

  1. Josephson Junction Arrays with Positional Disorder: Experiments and Simulations

    Science.gov (United States)

    1988-02-01

    Fraunhofer diffraction pattern, which has zeros at 4’=nOo (n*O). In real junctions one frequently has minima rather than zeros at these points, perhaps due to...not. % . --.,, ..-,,, a ’,| ,,,- VPa d, i a . ... ... . 67 shows more clearly the Fraunhofer diffraction pattern discussed earlier, with the...c) Triangular proximity array Fig. 2.2 (a) Distortion of superconducting island to introduce disorder 29 (b) An example of a disordered plaquette Fig

  2. Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Chalmers Laura J

    2011-05-01

    Full Text Available Abstract Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of below-optimal final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to investigate prenatal growth in the latter group. Additionally, because girls with congenital adrenal hyperplasia are exposed to increased levels of androgens in the absence of a male sex-chromosome complement, the presence or absence of typical sex differences in growth of newborns would support or refute a hormonal explanation for these differences. Methods In total, 105 newborns with congenital adrenal hyperplasia were identified in our database. Gestational age (weeks, birth weight (kg, birth length (cm and parental heights (cm were obtained. Mid-parental height was considered in the analyses. Results Mean birth weight percentile for congenital adrenal hyperplasia was 49.26%, indicating no evidence of a difference in birth weight from the expected standard population median of 50th percentile (P > 0.05. The expected sex difference in favor of heavier males was not seen (P > 0.05. Of the 105 subjects, 44 (27%; 34 females, 10 males had birth length and gestational age recorded in their medical chart. Mean birth length for this subgroup was 50.90 cm (63rd percentile, which differed from the expected standard population median of 50th percentile (P = 0.0082. The expected sex difference in favor of longer males was also not seen (P > 0.05. Conclusion The prenatal growth retardation patterns reported in cases of 46,XY disorders of sex development do not generalize to people with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Sex differences in body weight and length typically seen in young infants were not seen in the subjects who

  3. Bradyarrhythmias in Congenital Heart Disease.

    Science.gov (United States)

    Carlson, Steven K; Patel, Akash R; Chang, Philip M

    2017-06-01

    Bradyarrhythmias in adults with congenital heart disease (CHD) comprise a complex group of arrhythmia disorders with congenital and acquired origins, highly variable long-term sequelae, and complicated treatment options. They can develop across the spectrum of CHD defects and can be encountered at all ages. Although permanent pacing is effective in treating bradyarrhythmias, it is associated with many complications and morbidity, where it is often used early in life. This section discusses the incidence and prevalence of bradyarrhythmias in the CHD population, their timing of occurrence with respect to specific disease entities and interventions, and their short- and long-term clinical sequelae. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Comparing the experience of voices in borderline personality disorder with the experience of voices in a psychotic disorder: A systematic review.

    Science.gov (United States)

    Merrett, Zalie; Rossell, Susan L; Castle, David J

    2016-07-01

    In clinical settings, there is substantial evidence both clinically and empirically to suggest that approximately 50% of individuals with borderline personality disorder experience auditory verbal hallucinations. However, there is limited research investigating the phenomenology of these voices. The aim of this study was to review and compare our current understanding of auditory verbal hallucinations in borderline personality disorder with auditory verbal hallucinations in patients with a psychotic disorder, to critically analyse existing studies investigating auditory verbal hallucinations in borderline personality disorder and to identify gaps in current knowledge, which will help direct future research. The literature was searched using the electronic database Scopus, PubMed and MEDLINE. Relevant studies were included if they were written in English, were empirical studies specifically addressing auditory verbal hallucinations and borderline personality disorder, were peer reviewed, used only adult humans and sample comprising borderline personality disorder as the primary diagnosis, and included a comparison group with a primary psychotic disorder such as schizophrenia. Our search strategy revealed a total of 16 articles investigating the phenomenology of auditory verbal hallucinations in borderline personality disorder. Some studies provided evidence to suggest that the voice experiences in borderline personality disorder are similar to those experienced by people with schizophrenia, for example, occur inside the head, and often involved persecutory voices. Other studies revealed some differences between schizophrenia and borderline personality disorder voice experiences, with the borderline personality disorder voices sounding more derogatory and self-critical in nature and the voice-hearers' response to the voices were more emotionally resistive. Furthermore, in one study, the schizophrenia group's voices resulted in more disruption in daily functioning

  5. Congenital Ichthyosis in a Nigerian preterm neonate: A case report ...

    African Journals Online (AJOL)

    Congenital ichthyoses are relatively uncommon skin disorder s wi th worldwide occurrence. The ichthyoses are heterogenous disorders of keratinisation characterised by scaling of the skin of varying severity. This report describes a case of congenital ichthyosis in a preterm, male Hausa infant which happened to be the first ...

  6. [Congenital bilateral absence of vas deferens: From diagnosis to assisted reproductive techniques - the experience of three centers].

    Science.gov (United States)

    Beauvillard, D; Perrin, A; Drapier, H; Ravel, C; Fréour, T; Férec, C; De Braekeleer, M; Amice, V

    2015-05-01

    To review the management with assisted reproductive technologies (ART) of men with congenital bilateral absence of vas deferens (CBAVD), associated with cystic fibrosis or not, after surgical retrieval [epididymal aspiration (MESA) or testicular biopsy (TESE)]. Multicenter retrospective study made of 2 groups: CBAVD and cystic fibrosis (CF) or CBAVD only (CF-RD). Two centers performed MESA (Brest and Nantes) and one TESE (Rennes). Sperm numeration, motility, vitality, morphology and nuclear maturity were measured in both centers performing MESA. Fertilization rate (TF) and cumulated progressive pregnancy rate by retrieved oocyte (TGC) were compared between centers following ART. Ninety patients underwent surgical retrieval between January 1996 and March 2013, 30 in the CF group and 60 in the CF-RD group. Semen parameters were comparable between groups and centers. Fifty-eight (22 in the CF group and 36 in the CF-RD group) patients received ART between April 1996 and October 2014. TF was 50% and 52% and TGC 26% and 32% in the CF group and CF-RD groups, respectively. The results did not differ between groups but TGC was higher in Rennes than in the other two centers. Both semen parameters and ART results are comparable and similar to those reported in the literature. As shown by the results obtained in Rennes, TESE seems to be more effective. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  7. Family experiences of living with an eating disorder: a narrative analysis.

    Science.gov (United States)

    Papathomas, Anthony; Smith, Brett; Lavallee, David

    2015-03-01

    Families are considered important in the management and treatment of eating disorders. Yet, rarely has research focused on family experiences of living with an eating disorder. Addressing this gap, this study explores the experiences of an elite 21-year-old triathlete with an eating disorder in conjunction with the experiences of her parents. Family members attended interviews individually on three separate occasions over the course of a year. In line with the narrative approach adopted, whereby stories are considered the primary means to construct experience, interviews encouraged storytelling through an open-ended, participant-led structure. Narrative analysis involved repeated readings of the transcripts, sensitising towards issues of narrative content (key themes) and structure (overarching plot). Family difficulties arose when personal experiences strayed from culturally dominant narrative forms and when family members held contrasting narrative preferences. Suggestions are forwarded as to how an appreciation of eating disorder illness narratives might inform treatment and support. © The Author(s) 2015.

  8. rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency

    Directory of Open Access Journals (Sweden)

    Bradley S. Miller MD, PhD

    2013-09-01

    Full Text Available Background. Congenital disorders of glycosylation (CDG are a group of rare disorders in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and growth failure. The insulin-like growth factor (IGF system plays an important role in childhood growth and has been shown to be dysfunctional with low IGF-1 levels in children with CDG type Ia (PMM2 deficiency. Case report. A 3-year-old Caucasian male with failure to thrive was diagnosed with PMM2-CDG at 5 months of age. Initially, his length and weight were less than −2 standard deviation score, IGF-1 <25 ng/mL (normal 55-327 ng/mL, IGFBP-3 1.0 µg/mL (normal 0.7-3.6 ng/mL, and acid-labile subunit 1.3 mg/L (normal 0.7-7.9 mg/L. Despite aggressive feeding, he continued to show poor linear growth and weight gain. At 17 months, he underwent an IGF-1 generation test with growth hormone (0.1 mg/kg/d for 7 days; baseline IGF-1of 27 ng/mL (normal 55-327 ng/mL stimulated to only 33 ng/mL. Recombinant human IGF-1 (rhIGF-1 therapy (up to 130 µg/kg/dose twice daily was initiated at 21 months of age resulting in an excellent linear growth response with height increasing from −2.73 to −1.39 standard deviation score over 22 months. IGF-1 and IGFBP-3 levels also increased. Conclusion. This is the first case report of rhIGF-1 therapy in a patient with PMM2-CDG. The child had an excellent linear growth response. These results provide additional in vivo evidence for IGF dysfunction in PMM2-CDG and suggest that rhIGF-1 may be a novel treatment for growth failure in PMM2-CDG.

  9. More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.

    Science.gov (United States)

    Small, Katherine; Ginsburg, Howard; Greco, M Alba; Sarita-Reyes, Carmen; Kupchik, Gabriel; Blei, Francine

    2008-01-01

    Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.

  10. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  11. Parenting experiences of living with a child with attention deficit hyperactivity disorder

    DEFF Research Database (Denmark)

    Laugesen, Britt; Grønkjær, Mette

    2015-01-01

    BACKGROUND: Attention deficit hyperactivity disorder is the most prevalent mental disorder among children and adolescents worldwide. Parenting a child with attention deficit hyperactivity disorder is challenging and parents find it difficult to raise the child and struggle to get professional...... support. Research has shown how living with a child with Attention Deficit Hyperactivity Disorder influences the families' daily life. This includes how the parents manage to maintain a bearable family life, supportive or not supportive factors as well as parents' experiences of collaboration...... with professionals in diverse settings. OBJECTIVE: The objective of this systematic review was to identify and synthesize the best available evidence on parenting experiences of living with a child with attention deficit hyperactivity disorder, including their experiences of health care and other services. INCLUSION...

  12. Narratives reflecting the lived experiences of people with brain disorders: common psychosocial difficulties and determinants.

    Directory of Open Access Journals (Sweden)

    Sally Hartley

    Full Text Available BACKGROUND: People with brain disorders - defined as both, mental disorders and neurological disorders experience a wide range of psychosocial difficulties (PSDs (e.g., concentrating, maintaining energy levels, and maintaining relationships. Research evidence is required to show that these PSDs are common across brain disorders. OBJECTIVES: To explore and gain deeper understanding of the experiences of people with seven brain disorders (alcohol dependency, depression, epilepsy, multiple sclerosis, Parkinson's disease, schizophrenia, stroke. It examines the common PSDs and their influencing factors. METHODS: Seventy seven qualitative studies identified in a systematic literature review and qualitative data derived from six focus groups are used to generate first-person narratives representing seven brain disorders. A theory-driven thematic analysis of these narratives identifies the PSDs and their influencing factors for comparison between the seven disorders. RESULTS: First-person narratives illustrate realities for people with brain disorders facilitating a deeper understanding of their every-day life experiences. Thematic analysis serves to highlight the commonalities, both of PSDs, such as loneliness, anger, uncertainty about the future and problems with work activities, and their determinants, such as work opportunities, trusting relationships and access to self-help groups. CONCLUSIONS: The strength of the methodology and the narratives is that they provide the opportunity for the reader to empathise with people with brain disorders and facilitate deeper levels of understanding of the complexity of the relationship of PSDs, determinants and facilitators. The latter reflect positive aspects of the lives of people with brain disorders. The result that many PSDs and their influencing factors are common to people with different brain disorders opens up the door to the possibility of using cross-cutting interventions involving different sectors

  13. The Experience of Children Living with Sensory Processing Disorder

    Science.gov (United States)

    Scotch, Melissa Dawn

    2017-01-01

    Sensory processing disorder (SPD) is a neurological condition that alters the way an individual perceives sensory information. Although the condition has been studied for more than 40 years, SPD remains a difficult condition to diagnose, treat, and live with because it affects individuals uniquely, and the symptoms can change from childhood to…

  14. Adolescent boys with an autism spectrum disorder and their experience of sexuality : An interpretative phenomenological analysis

    NARCIS (Netherlands)

    Dewinter, J.; van Parys, H.; Vermeiren, R.; van Nieuwenhuizen, Ch.

    2017-01-01

    This qualitative study explored how adolescent boys with autism spectrum disorder experience their sexuality. Previous research has demonstrated that sexuality is a developmental task for boys with autism spectrum disorder, as it is for their peers. Case studies have suggested a relation between

  15. Sensory Experiences of Children with Autism Spectrum Disorder: In Their Own Words

    Science.gov (United States)

    Kirby, Anne V.; Dickie, Virginia A.; Baranek, Grace T.

    2015-01-01

    First-person perspectives of children with autism spectrum disorder are rarely included in research, yet their voices may help more clearly illuminate their needs. This study involved phenomenological interviews with children with autism spectrum disorder (n = 12, ages 4-13) used to gain insights about their sensory experiences. This article…

  16. Positive Childhood Experiences: Resilience and Recovery from Personality Disorder in Early Adulthood

    Science.gov (United States)

    Skodol, Andrew E.; Bender, Donna S.; Pagano, Maria E.; Shea, M. Tracie; Yen, Shirley; Sanislow, Charles A.; Grilo, Carlos M.; Daversa, Maria T.; Stout, Robert L.; Zanarini, Mary C.; McGlashan, Thomas H.; Gunderson, John G.

    2009-01-01

    Objective--Recent follow-along studies of personality disorders have shown significant improvement in psychopathology over time. The purpose of this study was to prospectively investigate the association between positive childhood experiences related to resiliency and remission from personality disorder. Method--Five hundred twenty patients with…

  17. The associations between psychotic experiences, and substance use and substance use disorders

    DEFF Research Database (Denmark)

    Degenhardt, Louisa; Saha, Sukanta; Lim, Carmen C W

    2017-01-01

    disorders (ORs ranged between 1.4 and 1.5). There was a dose response relationship between both count and frequency of PEs and increased subsequent odds of selected SU/SUDs. CONCLUSIONS: Associations between psychotic experiences (PEs) and substance use/substance use disorders (SU/SUDs) are often...

  18. Congenital Toxoplasmosis

    Science.gov (United States)

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  19. Patterns of Transition Experience for Parents Going Home from Hospital with their Infant after First Stage Surgery for Complex Congenital Heart Disease.

    Science.gov (United States)

    Gaskin, Kerry L

    2017-12-04

    The purpose of this study was to explore parents' experiences of one specific timepoint in their infant's journey: the transition from hospital to home, following the first stage of their infant's cardiac surgery for complex congenital heart disease. A prospective longitudinal mixed methods study, underpinned with Middle Range Transition Theory (Meleis, Sawyer, Im, Hilfinger Messias, & Schumacher, 2000). Face to face and telephone interviews were conducted and self-report forms completed by parents at four-time points: before discharge (T0), 2weeks after discharge (T1), 8weeks after discharge (T2) and after stage two surgery (T3). Interviews were transcribed verbatim before inductive thematic analysis. Parents were recruited over a 15-month period from 2013 to 2015. Twelve mothers and 4 fathers took part. The infants had functionally univentricular heart (left n=10, right n=1) and a systemic shunt dependent lesion, tetralogy of Fallot (n=1). Dynamic constructivist and constructionist social processes occurred for all parents, involving physical, physiological, psychological and cognitive elements within four 'patterns of experience', two of which 'safety and security' and 'love and support' are presented in this paper. Parental support is essential; parents need to be engaged in discharge planning process and given the opportunity to express their needs to ensure that discharge care is truly patient and family centered. Transition from hospital to home was complex and multi-faceted, with unanticipated physical and emotional transitions superimposed upon those that were expected. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Do young people with comorbid mental and alcohol disorders experience worse behavioural problems?

    Science.gov (United States)

    Salom, Caroline L; Betts, Kim S; Williams, Gail M; Najman, Jackob M; Scott, James G; Alati, Rosa

    2014-10-30

    This article examines whether young individuals in the general population with comorbid alcohol use and mental health disorders experience worse internalizing and externalizing behaviour problems than those with single disorders. A large cohort of women at the Mater Misericordiae Hospital in Brisbane, Australia, was enroled during pregnancy in a longitudinal study. Mother/offspring dyads were followed over 21 years. At age 21, offspring behaviour problems were examined using the Young Adult Self Report, alcohol and mental health disorders with the Composite International Diagnostic Interview. Associations between comorbidity and behaviour problems were assessed using multinomial logistic regression, accounting for life-course factors. Twelve per cent of young adults had alcohol/mental health DSM-IV disorders with significant temporal overlap. A further 16% had alcohol disorders only and 23% mental health disorders only. The comorbid group scored significantly higher on total and externalizing behaviour problems but not internalizing behaviour problems. Stronger associations of aggression/delinquency with comorbidity were not fully accounted for by factors known to influence separate development of mental health and alcohol disorders. Young adults with comorbid alcohol/mental health disorders experience more, and more severe, behavioural problems than those with single disorder types, indicating an increased burden from comorbidity, with implications for treatment and public order. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  1. Sleep in infants with congenital heart disease.

    Science.gov (United States)

    Ykeda, Daisy Satomi; Lorenzi-Filho, Geraldo; Lopes, Antonio A B; Alves, Rosana S C

    2009-01-01

    To investigate hypoxia and sleep disordered breathing in infants with congenital heart disease. Prospective study. In-hospital full polysomnography was performed on 14 infants with congenital heart disease, age 7 +/-1 months, and in 7 normal infants, age 10 +/-2 months. Congenital heart disease infants were classified as acyanotic (n=7) or cyanotic (n=7). Nutritional status, assessed by the Gomez classification and expressed as % weight for age, was 70 +/-7, 59 +/-11 and 94 +/-16 in the acyanotic, cyanotic congenital heart disease and control infants, respectively (pcongenital heart disease infants (11 out of 14) and only one control infant had an AHI >1 event/hour. The minimum oxygen saturation was 79% (74-82), 73% (57-74) and 90% (90-91) in the acyanotic, cyanotic congenital heart disease infants and controls, respectively (p congenital heart disease frequently present with sleep-disordered breathing associated with oxygen desaturations but not arousals. Therefore, sleep may represent a significant burden to infants with congenital heart disease.

  2. Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation.

    Science.gov (United States)

    de Freitas, Cláudia; Dos Reis, Vanessa; Silva, Susana; Videira, Paula A; Morava, Eva; Jaeken, Jaak

    2017-09-26

    Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive services and research. However, attempts to involve lay and professional stakeholders in devising community-framed strategies to address the unmet needs of rare diseases are lacking. In this study, we engaged with the community of Congenital Disorders of Glycosylation (CDG) to assess its needs and elicit social innovations to promote people-centred care and research. Drawing on a qualitative study, we conducted three think tanks in France with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. They were selected from the registry of the Second World Conference on CDG through heterogeneity and simple random sampling. Inductive and deductive approaches were employed to conduct interpretational analysis using open, axial and selective coding, and the constant-comparison method to facilitate the emergence of categories and core themes. The CDG community has unmet needs for information, quality health care, psychosocial support and representation in decision-making concerned with care and research. According to participants, these needs can be addressed through a range of social innovations, including peer-support communities, web-based information resources and a CDG expertise platform. This is one of the few studies to engage lay and professional experts in needs assessment and innovation for CDG at a global level. Implementing the innovations proposed by the CDG community is likely to have ethical, legal and social implications associated with the

  3. Congenital sideroblastic anemia of a Saudi child.

    Science.gov (United States)

    ALBagshi, Muneer H; Saloma, Somaya H; Albagshi, Hassan M

    2017-01-01

    Sideroblastic anemia is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow, and has congenital and acquired forms. Congenital sideroblastic anemia is a rare condition, which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe one case of congenital sideroblastic anemia, indicating an autosomal recessive inheritance, with its clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.

  4. An exploration of links between early parenting experiences and personality disorder type and disordered personality functioning.

    Science.gov (United States)

    Parker, G; Roy, K; Wilhelm, K; Mitchell, P; Austin, M P; Hadzi-Pavlovic, D

    1999-01-01

    Reports of early parenting were assessed using two measures, the Parental Bonding Index (PBI) and the Measure of Parenting Style (MOPS), in a sample of 265 patients with DSM-defined major depressive disorder. Psychiatrists then rated the extent to which sample members evidenced the personality "styles" underpinning 15 separate personality disorders, returning personality vignette scores. The extent of disordered functioning was also assessed across "parameters" and "domains" by psychiatrists, referrers, and family members, using a range of measures. Those with higher scores on vignettes measuring borderline, anxious, depressive, and self-defeating personality style rated parents as uncaring, overcontrolling, and abusive. When vignettes were consolidated into scores akin to the DSM clusters, the most consistent links between perceived dysfunctional parenting were with the Cluster C (anxious), and Cluster B (dramatic) styles and were nonsignificant for Cluster A (eccentric) style. Meeting criteria for an increasing number of personality disorder clusters was associated with increasing levels of adverse parenting. Multiple regression analyses indicated that disordered functioning (as assessed by the three independent rater groups) was most distinctly associated with paternal indifference and maternal overcontrol.

  5. Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

    Science.gov (United States)

    Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

    2017-08-01

    Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Congenital malformations in newborns of alcoholic mothers

    Directory of Open Access Journals (Sweden)

    Maria dos Anjos Mesquita

    2010-12-01

    Full Text Available Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births, 6 with congenital defects related to alcohol (3.0/1,000 live births, and 67 with developmental disorders related to alcohol (34.1/1,000 live births. The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. Conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.

  7. The Experience of Crisis in Families of Individuals with Autism Spectrum Disorder across the Lifespan

    Science.gov (United States)

    White, Stacy E.; McMorris, Carly; Weiss, Jonathan A.; Lunsky, Yona

    2012-01-01

    It is well-established that parents of individuals with autism spectrum disorder (ASD) experience significant stress in their caregiving role, and research findings indicate that chronic stressors can act as a precipitant to crisis. In the present study, we examined the experience of crisis in families of individuals with ASD from early childhood…

  8. Let's Talk about It: Peer Victimization Experiences as Reported by Adolescents with Autism Spectrum Disorder

    Science.gov (United States)

    Fisher, Marisa H.; Taylor, Julie Lounds

    2016-01-01

    Individuals with autism spectrum disorder experience high rates of peer victimization; yet, their personal experiences and perceptions of such victimization are not well understood. In this qualitative investigation, responses to questions about bullying and teasing were examined to gain insight into the perception of peer victimization as…

  9. Do previous experience and geographic proximity matter? Possible predictors for diagnosing Adjustment disorder vs. PTSD.

    Science.gov (United States)

    Mahat-Shamir, Michal; Ring, Lia; Hamama-Raz, Yaira; Ben-Ezra, Menachem; Pitcho-Prelorentzos, Shani; David, Udi Y; Zaken, Adi; Lavenda, Osnat

    2017-12-01

    The minority of people who have experienced a traumatic event and were diagnosed as either suffering from PTSD or from Adjustment disorder, may suggest that victims of a traumatic event vary in risk factors for the disorders. The current research aimed at examining the association between reports of Adjustment disorder and PTSD symptoms (In accordance with the proposed revisions of the ICD-11) and several vulnerability variables: previous traumatic event, previous stressful event and physical proximity to the terror attack. Using an online survey, 379 adult participants were recruited, and filled out Adjustment disorder, PTSD symptomatology scales, as well as a previous exposure, magnitude of exposure and death anxiety scales. Findings revealed that previous experience of traumatic events was a significant predictor associated with both PTSD and Adjustment disorder symptoms. Previous experience of stressful events was a significant predictor associated with Adjustment disorder alone. Physical proximity to the site of the attack was a significant predictor associated with PTSD symptoms but not Adjustment disorder symptoms. The importance of previous traumatic events, previous stressful events and physical proximity to the terror attack as factors which are associated with Adjustment disorder and PTSD symptomatology is discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Cosmetic surgery in inpatients with eating disorders: attitudes and experience.

    Science.gov (United States)

    Coughlin, Janelle W; Schreyer, Colleen C; Sarwer, David B; Heinberg, Leslie J; Redgrave, Graham W; Guarda, Angela S

    2012-01-01

    Body image disturbance is frequent among individuals undergoing cosmetic surgery and core to the pathology of eating disorders (ED); however, there is little research examining cosmetic surgery in ED. This study examined body image related measures, ED behaviors, and depression as predictors of attitudes toward cosmetic surgery in 129 women with ED. Patients who had undergone surgery (n=16, 12%) were compared to those who had not. Having a purging diagnosis, linking success to appearance, and making physical appearance comparisons were predictive of more favorable cosmetic surgery attitudes. All of those who had undergone surgery had purging diagnoses and, on average, were older, had higher BMIs, and were more likely to make physical appearance comparisons and know someone who had undergone surgery. In ED, acceptance and pursuit of cosmetic surgery appears to be related to social group influences more than weight and shape disturbance, media influences, or mood. Copyright © 2011 Elsevier Ltd. All rights reserved.

  11. Prostatic disorders in acromegalic patients experience of a Brazilian center

    Directory of Open Access Journals (Sweden)

    Livia L. Correa

    2013-06-01

    Full Text Available Introduction Published data suggest that patients with acromegaly have an increased prevalence of prostate disorders. Objective To evaluate prostatic disorders in acromegalic patients comparing these results after one year of treatment of acromegaly and with a group of healthy men. Materials and Methods This study was composed of two parts: sectional study comparing patients with healthy controls (baseline and prospective, longitudinal study (at baseline and after one year of treatment. Forty acromegalic patients were enrolled and evaluated at baseline and after one year with the application of international prostatic symptoms score (IPSS, digital rectal examination, measurements of growth hormone (GH, insulin-like growth factor-I (IGF-I, insulin-like growth factor-binding protein-3 (IGFBP-3, sex hormone-binding globulin (SHBG, prolactin, luteinizing hormone (LH, follicle-stimulating hormone (FSH, total testosterone, total and free prostate-specific antigen (PSA levels and prostate ultrasonography (US. Thirty healthy men were selected as control group. Results We stratified patients and controls according to age, considering 40 years-old as cut off. Healthy controls under 40 had IPSS values lower than acromegalic patients. When considering only older patients and controls prostate hyperplasia and structural abnormalities were more frequent in acromegalics. After one year of treatment there was significant decrease in GH, IGF-I and prostate volume in acromegalics over 40 years-old. Conclusions Acromegalics under 40 have more urinary symptoms according to IPSS and above 40 years-old higher frequency of structural changes and increased prostate volume than healthy men. Significant reduction of GH and IGF-I levels during treatment of acromegaly leads to decrease in the prostate volume.

  12. Parents of Adolescents with Mental Disorders: Improving Their Caregiving Experience

    Science.gov (United States)

    Gatta, Michela; Zotto, Lara Dal; Nequinio, Giulia; Col, Lara Del; Sorgato, Rosaria; Ceranto, Giovanni; Testa, Costantino Paolo; Pertile, Riccardo; Battistella, Pier Antonio

    2011-01-01

    Several studies have demonstrated that the family members of adolescents with mental diseases experience distress, anxiety and depression, as well as economic strain, all of which contribute to physical and psychological caregiver morbidity. The aim of this study was to assess the effectiveness of intervention to improve the caregiving experience…

  13. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  14. Congenital uronephropathy pattern in children

    Directory of Open Access Journals (Sweden)

    Husein Alatas

    2001-10-01

    Full Text Available To obtain the basic data of congenital uronephropathy pattern and the affecting factors in children, we conducted a cross-sectional study at the Department of Child Health Cipto Mangunkusumo (CM Hospital Jakarta from 1995 to 1999 and 9 teaching hospitals throughout Indonesia. During the study period 134 patients were obtained, 116 patients from the CM Hospital and 18 patients from other teaching hospitals. Most patients (48.8% were below 1 year of age; male were affected more than female (2.4:1. The disorder was classified into two groups, i.e., congenital nephropathy and uropathy. There were 10 children with nephropathy, i.e., 4 with unilateral renal hypoplasia, 3 with polycystic kidney, and 3 with renal agenesis. In the uropathy group, 43 were with hypospadia, 22 with primary reflux vesicoureter, 18 with neurogenic bladder, and 17 with ureteropelvic junction obstruction. The complications found were urinary tract infection (71.2%, chronic renal failure (15.7%, hypertension (3.7%, and acute renal failure (1.5%. Consanguinity, familial disorders, maternal diseases, x-ray exposure and abortion efforts were found in a small proportion of patients. History of drug or herbs use in the first trimester of pregnancy was found in a large proportion of patients, mostly took analgesics (especially acetaminophen. In conclusion, uropathy disorders were much more common than congenital nephropathy. The most common complication was urinary tract infection, followed by chronic renal failure, hypertension, and acute renal failure.

  15. Isolated dextrocardia and congenital heart blocking

    OpenAIRE

    Khoury, Maurice; Harbieh, Bernard; Heriopian, Aline

    2015-01-01

    To our knowledge, isolated dextrocardia in association with congenital complete atrioventricular heart block has not been previously reported. We report such a case, elaborate on the possible pathogenesis, and present our experience with management.

  16. Coping with congenital hand differences.

    Science.gov (United States)

    Franzblau, Lauren E; Chung, Kevin C; Carlozzi, Noelle; Chin, Autumn Y T; Nellans, Kate W; Waljee, Jennifer F

    2015-04-01

    Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children's ability to cope with the psychosocial effects of these conditions. The authors qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Forty patients and their parents participated in semistructured interviews examining children's stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. In this sample, 58 percent of children and 40 percent of parents reported stress related to congenital hand differences, attributed to functional deficits (61 percent), hand appearance (27 percent), social interactions (58 percent), and emotional reactions (46 percent). Among the 18 children who reported stress, 43 percent of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12 percent), self-acceptance (21 percent), avoidance (27 percent), seeking external support (30 percent), concealment (30 percent), educating others (9 percent), support programs (21 percent), and religion (24 percent). Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress to direct resources toward strengthening coping strategies and support systems.

  17. Congenital sideroblastic anemia: A report of two cases

    OpenAIRE

    Gupta Sanjeev; Rao Seema; Kar Rakhee; Tyagi Seema; Pati Hara

    2009-01-01

    Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe two cases of congenital sideroblastic anemia, one of them indicating an autosomal recessive inheritance, with their clinico-hematological profile. It is important to re...

  18. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  19. Puberty suppression in gender identity disorder: the Amsterdam experience.

    Science.gov (United States)

    Kreukels, Baudewijntje P C; Cohen-Kettenis, Peggy T

    2011-05-17

    The use of gonadotropin-releasing hormone analogs (GnRHa) to suppress puberty in adolescents with gender dysphoria is a fairly new intervention in the field of gender identity disorders or transsexualism. GnRHa are used to give adolescents time to make balanced decisions on any further treatment steps, and to obtain improved results in the physical appearance of those who opt to continue with sex reassignment. The effects of GnRHa are reversible. However, concerns have been raised about the risk of making the wrong treatment decisions, as gender identity could fluctuate during adolescence, adolescents in general might have poor decision-making abilities, and there are potential adverse effects on health and on psychological and psychosexual functioning. Proponents of puberty suppression emphasize the beneficial effects of GnRHa on the adolescents' mental health, quality of life and of having a physical appearance that makes it possible for the patients to live unobtrusively in their desired gender role. In this Review, we discuss the evidence pertaining to the debate on the effects of GnRHa treatment. From the studies that have been published thus far, it seems that the benefits outweigh the risks. However, more systematic research in this area is needed to determine the safety of this approach.

  20. Biomarkers in Rare Disorders: The Experience with Spinal Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Christina Brahe

    2010-12-01

    Full Text Available Spinal muscular atrophy (SMA is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Based on clinical severity, three forms of SMA are recognized (type I–III. All patients have at least one (usually 2–4 copies of a highly homologous gene (SMN2 which produces insufficient levels of functional SMN protein, due to alternative splicing of exon7. Recently, evidence has been provided that SMN2 expression can be enhanced by different strategies. The availability of potential candidates to treat SMA has raised a number of issues, including the availability of data on the natural history of the disease, the reliability and sensitivity of outcome measures, the duration of the studies, and the number and clinical homogeneity of participating patients. Equally critical is the availability of reliable biomarkers. So far, different tools have been proposed as biomarkers in SMA, classifiable into two groups: instrumental (the Compound Motor Action Potential, the Motor Unit Number Estimation, and the Dual-energy X-ray absorptiometry and molecular (SMN gene products dosage, either transcripts or protein. However, none of the biomarkers available so far can be considered the gold standard. Preclinical studies on SMA animal models and double-blind, placebo-controlled studies are crucial to evaluate the appropriateness of biomarkers, on the basis of correlations with clinical outcome.

  1. Correlation of adverse childhood experiences with psychiatric disorders and aggressiveness in adulthood

    Directory of Open Access Journals (Sweden)

    Samardžić Ljiljana

    2010-01-01

    Full Text Available Background/Aim. Consequences of individual adverse childhood experiences for adult mental health have been precisely studied during past decades. The focus of past research was mainly on childhood maltreatment and neglect. The aim of this paper was to determine association between multiple adverse childhood experiences and psychiatric disorders, as well as their correlation to the degree and type of aggressiveness in adult psychiatric patients. Methods. One hundred and thirteen psychiatric outpatients were divided into three diagnostic groups: psychotics, non-psychotics and alcoholics and compared with fourty healthy individuals. Adverse childhood experiences data were gathered retrospectively, using the Adverse childhood experiences questionnaire and explanatory interview. Aggressiveness was assessed using Buss-Perry Aggression Questionnaire. The Student's t test, ANOVA and correlational analysis were used for evaluation of statistical significance of differences among the groups. A value p < 0.05 was considered statistically significant. Results. Our results showed that the mean number of adverse childhood experiences in each group of psychiatric patients, as well as in the whole group of patients, was statistically significantly higher than in the group of healthy individuals (p < 0.001; there was a statistically significant difference in score of physical aggressiveness between the patients exposed to adverse childhood experiences and those who were not exposed to them (p < 0.05; scores of physical aggressiveness were in positive correlation with the number of adverse childhood experiences (p < 0.05. The highest mean score of adverse childhood experiences was evidenced in the group of patients with psychotic disorders. Conclusion. Multiple adverse childhood experiences are significantly associated with psychotic disorders, nonpsychotic disorders and alcohol dependence in adulthood and their presence is important morbidity risk factor for

  2. Congenital hypothyroidism: Screening dilemma.

    Science.gov (United States)

    Desai, Meena P

    2012-12-01

    Primary sporadic congenital hypothyroidism (CH) is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH) are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS) for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  3. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  4. [Congenital cervical spondylolisthesis].

    Science.gov (United States)

    Raichel, Michael; Lumelsky, Dmitry; Tanzman, Michael; Shtern, Avinoam; Kaufman, Basil

    2003-12-01

    Cervical spondylolysis with spondylolisthesis is a complex abnormality involving the posterior elements of the cervical vertebra, and anterolisthesis of the same vertebra. Cervical spondylolysis is defined as a corticated cleft between the superior and inferior articular facets of the articular "pillar", the cervical equivalent of the pars intraarticularis in the lumbar spine. The typical radiological features of this condition are as follows: 1. Spondylolysis (a break in the "pillar" on one or both sides) 2. Spina bifida of dysplastic vertebra 3. Affection of posterior intervertebral joints (abnormal inclination of the superior and inferior articular facets of the affected bones may present) Recognition of this congenital disorder and its differentiation from traumatic injury is extremely important in patients who have a history of recent cervical trauma.

  5. Eating disorders: when social rank perceptions are shaped by early shame experiences.

    Science.gov (United States)

    Matos, Marcela; Ferreira, Cláudia; Duarte, Cristiana; Pinto-Gouveia, José

    2015-03-01

    Recent research has shown that early adverse experiences can be an important risk factor for eating disorders. However, the role of early shame memories and how they are structured as traumatic and central memories to self-identity in eating disorders has never been investigated. This study explores the phenomenology of shame memories involving attachment figures and other agents from the wider social domain in patients with eating disorders, and examines the relationship between their traumatic and centrality features, social comparison based on physical appearance, and the severity of eating psychopathology. The study has a cross-sectional design using a structured interview to assess retrospective data. Participants in this study were 36 patients with an eating disorder diagnosis, who were assessed using Eating Disorder Examination (EDE 16.0D), the Shame Experiences Interview (SEI), and self-report instruments measuring the traumatic features and centrality to identity of shame memories and social comparison. Results indicated that the traumatic and centrality qualities of shame memories involving social agents other than attachment figures (e.g., peers) are significantly correlated with unfavourable social rank perceptions and with increased eating psychopathology severity. Furthermore, the impact of such shame memories on eating psychopathology is fully mediated by social comparisons based on physical appearance. These findings highlight the importance of early shame experiences involving peers and other social agents that become traumatic memories, central to self-identity, to eating disorder patients' perceptions of inferiority and their core psychopathology features. Early shame experiences of patients with eating disorders should be carefully assessed. Shame traumatic memories involving social agents outside the family circle (e.g., peers) seem to be especially damaging for patients with eating disorders, and influence how physical appearance is used as a

  6. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. Copyright © 2015 Elsevier Ltd. All rights reserved.

  7. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

    Science.gov (United States)

    Akinci, Gulcin; Topaloglu, Haluk; Akinci, Baris; Onay, Huseyin; Karadeniz, Cem; Ergul, Yakup; Demir, Tevfik; Ozcan, Emin Evren; Altay, Canan; Atik, Tahir; Garg, Abhimanyu

    2016-06-01

    Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  8. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000411.htm Congenital adrenal hyperplasia To use the sharing features on this page, please enable JavaScript. Congenital adrenal hyperplasia is the name given to a group of ...

  9. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  10. Severe congenital cyclic neutropenia: A case report.

    Science.gov (United States)

    Patil, Vidyavathi H; Hugar, Shivayogi M; Balikai, Girish; Patil, Sudha

    2016-01-01

    Congenital cyclic neutropenia syndrome is a constitutional genetic disorder which is characterized by very low number of neutrophils (neutropenia). Patients suffering from this disorder clinically present with neutropenia at early age, history of recurrent fever, ulcerations in the oral cavity, gingivitis, and other recurrent infections. This paper describes a case report of a child with recurrent mouth ulcers, fever, and later diagnosed with severe congenital cyclic neutropenia. This also emphasizes the importance of identification of rare causes of immunosuppressive conditions in children presenting with recurrent oral ulcers and poor dental hygiene, to prevent long-term complications of oral cavity and also morbidity and mortality secondary to neutropenic sepsis.

  11. Association of interatrial septal abnormalities with cardiac impulse conduction disorders in adult patients: experience from a tertiary center in Kosovo.

    Directory of Open Access Journals (Sweden)

    Zaim Gashi

    2011-06-01

    Full Text Available Interatrial septal disorders, which include: atrial septal defect, patent foramen ovale and atrial septal aneurysm, are frequent congenital anomalies found in adult patients. Early detection of these anomalies is important to prevent their hemodynamic and/or thromboembolic consequences. The aims of this study were: to assess the association between impulse conduction disorders and anomalies of interatrial septum; to determine the prevalence of different types of interatrial septum abnormalities; to assess anatomic, hemodynamic, and clinical consequences of interatrial septal pathologies. Fifty-three adult patients with impulse conduction disorders and patients without ECG changes but with signs of interatrial septal abnormalities, who were referred to our center for echocardiography, were included in a prospective transesophageal echocardiography study. Intera trial septal anomalies were detected in around 85% of the examined patients.

  12. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  13. Using multidetector-row CT in neonates with complex congenital heart disease to replace diagnostic cardiac catheterization for anatomical investigation: initial experiences in technical and clinical feasibility

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Tain; Tsai, I.C.; Chen, Min-Chi [Taichung Veterans General Hospital, 407 Department of Radiology, Taichung (Taiwan); Medical College of Chung Shan Medical University, Faculty of Medicine, Taichung (Taiwan); National Yang Ming University School of Medicine, Department of Medicine, Taipei (Taiwan); Fu, Yun-Ching; Jan, Sheng-Lin [Taichung Veterans General Hospital, Department of Paediatrics, Taichung (Taiwan); National Yang-Ming University, Institute of Clinical Medicine, Taipei (Taiwan); Wang, Chung-Chi; Chang, Yen [Taichung Veterans General Hospital, Section of Cardiovascular Surgery, Department of Surgery, Taichung (Taiwan)

    2006-12-15

    Echocardiography is the first-line modality for the investigation of neonatal congenital heart disease. Diagnostic cardiac catheterization, which has a small but recognized risk, is usually performed if echocardiography fails to provide a confident evaluation of the lesions. To verify the technical and clinical feasibilities of replacing diagnostic cardiac catheterization with multidetector-row CT (MDCT) in neonatal complex congenital heart disease. Over a 1-year period we prospectively enrolled all neonates with complex congenital heart disease referred for diagnostic cardiac catheterization after initial assessment by echocardiography. MDCT was performed using a 40-detector-row CT scanner with dual syringe injection. A multidisciplinary congenital heart disease team evaluated the MDCT images and decided if further diagnostic cardiac catheterization was necessary. The accuracy of MDCT in detecting separate cardiovascular anomalies and bolus geometry of contrast enhancement were calculated. A total of 14 neonates were included in the study. No further diagnostic cardiac catheterization was needed in any neonate. The accuracy of MDCT in diagnosing separate cardiovascular anomalies was 98% (53/54) with only one atrial septal defect missed in a patient with coarctation syndrome. The average cardiovascular enhancement in evaluated chambers was 471 HU. No obvious beam-hardening artefact was observed. The technical and clinical feasibility of MDCT in complex congenital heart disease in neonates is confirmed. After initial assessment with echocardiography, MDCT could probably replace diagnostic cardiac catheterization for further anatomical clarification in neonates. (orig.)

  14. The genetic background of congenital portosystemic shunts in dogs

    NARCIS (Netherlands)

    van Steenbeek, F.G.|info:eu-repo/dai/nl/314417958

    2013-01-01

    Congenital disorders of the hepatic portal vasculature are rare in man, but occur frequently in certain dog breeds. Congenital portosystemic shunts (CPSS) is the collective term for two subtypes; extrahepatic portosystemic shunts (EHPSS) and intrahepatic portosystemic shunts (IHPSS). The dog is very

  15. Congenital Prepubic Sinus: A Case Report | Harjai | African Journal ...

    African Journals Online (AJOL)

    Congenital Prepubic Sinus: A Case Report. M M Harjai, R Handa, R Kale. Abstract. Congenital prepubic sinus is an exceptional disorder of uncertain origin. These sinuses may represent a variant of epispadiac duplication or dorsal urethral duplication of the urethra.We present a case of isolated blind ending prepubic ...

  16. Congenital anomalies: Prospective study of pattern and associated ...

    African Journals Online (AJOL)

    2017-04-02

    Apr 2, 2017 ... Malformations, Birth defects, Risk factors, Epidemiology, Nigeria,. Anambra. Introduction. Congenital anomalies also known as birth defects, con- genital malformations or congenital disorders are struc- tural or functional anomalies that occur during intrauter- ine life and can be identified prenatally, at birth ...

  17. Unusual occurrence of congenital hypothyroidism in a set of same ...

    African Journals Online (AJOL)

    Congenital hypothyroidism is the most common endocrinological disorder in children. Genetic and intrauterine factors have been implicated in its aetiology. The aim of this study was to describe an unusual occurrence of congenital hypothyroidism in a set of same sex triplets and challenges associated with the diagnosis.

  18. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

    2014-01-01

    : diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant......INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  19. Screening for bipolar disorder with the Mood Disorders Questionnaire in patients diagnosed as major depressive disorder - the experience in China.

    Science.gov (United States)

    Hu, Chen; Xiang, Yu-Tao; Wang, Gang; Ungvari, Gabor S; Dickerson, Faith B; Kilbourne, Amy M; Lai, Kelly Y C; Si, Tian-Mei; Fang, Yi-Ru; Lu, Zheng; Yang, Hai-Chen; Hu, Jian; Chen, Zhi-Yu; Huang, Yi; Sun, Jing; Wang, Xiao-Ping; Li, Hui-Chun; Zhang, Jin-Bei; Chiu, Helen F K

    2012-12-01

    Bipolar disorder (BD) is often misdiagnosed as a major depressive disorder (MDD). This study aimed to test the usefulness of the screening tool, the Mood Disorders Questionnaire (MDQ), to identify BD patients misdiagnosed as MDD in Chinese clinical settings. A total of 1487 patients treated for MDD were consecutively examined in 13 mental health centers in China. The patients' socio-demographic and clinical characteristics were recorded using a standardized protocol and data collection procedure. The MDQ was completed by patients to identify symptoms characteristic of BD. DSM-IV diagnoses were established using the Mini International Neuropsychiatric Interview (MINI). Three hundred-nine of the 1487 patients (20.8%) satisfied DSM-IV criteria for BD; 118 (7.9%) for BD-I and 191 (12.8%) for BD-II on the MINI. The optimal cut-off point on the MDQ to differentiate BD from MDD was 3, while cut-off points of 5 and 3 differentiated BD-I and BD-II from MDD, respectively. The maximum sensitivity was 0.31, 0.45 and 0.22 for differentiating BD, BD-I and BD-II from MDD, respectively. The optimal cutoff points of the MDQ for screening BD in Chinese patients originally diagnosed as MDD were considerably lower than those in earlier studies. The routine clinical use of the MDQ as a screening scale for BD in Chinese patients treated for MDD does not seem to be justified. Copyright © 2012. Published by Elsevier B.V.

  20. [Screening for major dissociative disorders with the FDS, the German version of the Dissociative Experience Scale].

    Science.gov (United States)

    Rodewald, Frauke; Gast, Ursula; Emrich, Hinderk M

    2006-06-01

    The prevalence of major dissociative disorders (dissociative identity disorder, DID and similar forms of dissociative disorder not otherwise specified, DDNOS) in clinical samples is about 5 %. Despite their frequency, major dissociative disorders are often overseen for a long time. Screening-scales have proved to be effective to support clinical diagnosis. The aim of this study was to test, whether the Fragebogen für dissoziative Symptome (FDS), the German version of the Dissociative Experiences Scale (DES), differentiates between patients with dissociative disorders, non-dissociative disorders and non-clinical controls. Additionally, an optimal FDS-cutoff for a more detailed differential-diagnostic evaluation of the dissociative symptomatology should be identified. 150 participants with DID (group DID: n = 44), DDNOS (DDNOS: n = 22), posttraumatic disorders (TRAUMA: n = 20), other non-dissociative disorders (non-TRAUMA: n = 34) and non-clinical controls (KG: n = 30) completed the FDS. In the five diagnostic groups, mean values were calculated and compared for the FDS, DES and FDS-20. Via receiver-operating-curves the cutoff-scores, which differentiated best between participants with and without major dissociative disorders, were identified. FDS, DES and FDS-20 differentiate significantly between patients with and without major dissociative disorders. For all scales, there were significant differences between the diagnostic groups, with mean-scores decreasing continuously from the groups DID to DDNOS and TRAUMA. Between the groups non-TRAUMA and KG tendencies were found in the predicted direction. The optimal cutoff-scores to differentiate between participants with and without major dissociative disorders were 13 (FDS/FDS-20) and 15 (DES). Using these cutoff-scores, at least 90 % of the patients with major dissociative disorders could be identified correctly (sensitivity). The specifity of the scales was 0.89 to 0.90. Screening for major dissociative disorders

  1. Neural bases of congenital amusia in tonal language speakers.

    Science.gov (United States)

    Zhang, Caicai; Peng, Gang; Shao, Jing; Wang, William S-Y

    2017-03-01

    Congenital amusia is a lifelong neurodevelopmental disorder of fine-grained pitch processing. In this fMRI study, we examined the neural bases of congenial amusia in speakers of a tonal language - Cantonese. Previous studies on non-tonal language speakers suggest that the neural deficits of congenital amusia lie in the music-selective neural circuitry in the right inferior frontal gyrus (IFG). However, it is unclear whether this finding can generalize to congenital amusics in tonal languages. Tonal language experience has been reported to shape the neural processing of pitch, which raises the question of how tonal language experience affects the neural bases of congenital amusia. To investigate this question, we examined the neural circuitries sub-serving the processing of relative pitch interval in pitch-matched Cantonese level tone and musical stimuli in 11 Cantonese-speaking amusics and 11 musically intact controls. Cantonese-speaking amusics exhibited abnormal brain activities in a widely distributed neural network during the processing of lexical tone and musical stimuli. Whereas the controls exhibited significant activation in the right superior temporal gyrus (STG) in the lexical tone condition and in the cerebellum regardless of the lexical tone and music conditions, no activation was found in the amusics in those regions, which likely reflects a dysfunctional neural mechanism of relative pitch processing in the amusics. Furthermore, the amusics showed abnormally strong activation of the right middle frontal gyrus and precuneus when the pitch stimuli were repeated, which presumably reflect deficits of attending to repeated pitch stimuli or encoding them into working memory. No significant group difference was found in the right IFG in either the whole-brain analysis or region-of-interest analysis. These findings imply that the neural deficits in tonal language speakers might differ from those in non-tonal language speakers, and overlap partly with the

  2. Managing disorder of sexual development surgically: A single center experience

    Directory of Open Access Journals (Sweden)

    Jatinder Kumar

    2012-01-01

    Full Text Available Introduction: Ambiguous genitalia are a major cause of parental anxiety and create psychological and social problems to patient, if not managed properly. Here we present our experience in managing patients with ambiguous genitalia. Material and Methods: We retrospectively reviewed clinical records of all patients with ambiguous genitalia managed surgically at out institute between December 1989 and January 2011. Relevant history, clinical examination , investigations and surgical procedures performed were analyzed and results were evaluated in terms of anatomical, functional and psychosexual outcomes. Results: Female pseudohermaphroditism was the most common cause of genital ambiguity in our patients. Male and female genitoplasty was done according to gender of rearing, genital anatomy and parental choice. Twenty six patients (86.6% reported satisfactory cosmetic outcome and 22 (73.3% satisfactory functional outcome on long term follow-up. Among the 24 patients diagnosed as male pseudohermaphroditism 14 (82.3% patient have reported satisfactory cosmetic outcome and 13 (76.4% have reported satisfactory functional outcome. In patients with mixed gonadal dysgenesis and true hermaphroditism satisfactory cosmetic and functional outcome was seen in 70% patient. Conclusion: Managing patients of genital ambiguity according to gender of rearing, genital anatomy and parental choice carries good prognosis in terms of anatomical, functional and psychosexual outcome.

  3. Growth disorders in type 1 diabetes: an Indian experience

    Directory of Open Access Journals (Sweden)

    Anju Virmani

    2015-01-01

    Full Text Available Though children with type 1 diabetes mellitus (T1DM are often tall at the time of diagnosis, they may experience growth retardation, pubertal delay or both, which may be due to poor glycemic control, associated diseases or chronic complications. Factors affecting growth include: gender, genetic environment, age at diagnosis, diabetes duration, puberty, metabolic control, and status of growth hormone (GH, insulin-like growth factors (IGFs, and IGF binding proteins (IGFBPs. Insulin regulates expression of hepatic GH receptors, affects IGFs and IGFBPs synthesis by modulating GH postreceptor events, and significantly increases IGF-I bioactivity. Low portal insulin seen in T1DM leads to GH hypersecretion, low circulating IGF-I and IGFBP-3, and high circulating IGFBP-1. Newly diagnosed T1DM patients have decreased GHBP which can be restored with insulin therapy. Growth velocity should be appropriate for the age of the child/adolescent, and the mid-parental height. Height, weight and blood pressure (BP should be measured and plotted on a growth chart at least 2-3 times a year. Puberty should also be assessed annually. Following precautions are to be taken in T1DM children: checking for pubertal onset and ensuring it is not delayed, testing early when growth falters (hypothyroidism/celiac disease/puberty/other conditions, aiming for best possible metabolic control (multidose regimens, regardless of type of insulin, and encouraging dietary calcium and protein, exposure to sunlight, Vitamin D supplements and exercise.

  4. Impaired Pitch Perception and Memory in Congenital Amusia: The Deficit Starts in the Auditory Cortex

    Science.gov (United States)

    Albouy, Philippe; Mattout, Jeremie; Bouet, Romain; Maby, Emmanuel; Sanchez, Gaetan; Aguera, Pierre-Emmanuel; Daligault, Sebastien; Delpuech, Claude; Bertrand, Olivier; Caclin, Anne; Tillmann, Barbara

    2013-01-01

    Congenital amusia is a lifelong disorder of music perception and production. The present study investigated the cerebral bases of impaired pitch perception and memory in congenital amusia using behavioural measures, magnetoencephalography and voxel-based morphometry. Congenital amusics and matched control subjects performed two melodic tasks (a…

  5. Clinical experiences in using cognitive-behavior therapy to treat panic disorder.

    Science.gov (United States)

    Wolf, Abraham W; Goldfried, Marvin R

    2014-01-01

    Although there is a growing body of research to support the use of psychological treatments for specific disorders, there has been no way for practitioners to provide feedback to researchers on the barriers they encounter in implementing these treatments in their day-to-day clinical work. In order to provide practitioners a means to give researchers information about their clinical experience, the Society of Clinical Psychology and the Division of Psychotherapy of the American Psychological Association collaborated on an initiative to build a two-way bridge between practice and research. A questionnaire was developed on the therapist, patient, and contextual variables that undermine the effective use of CBT in reducing the symptoms of panic disorder, a clinical problem that occurs frequently in clinical practice and has an extensive research base. An Internet-based survey was advertised internationally in listservs and professional newsletters, asking clinicians to indicate all aspects of CBT that they used in treating panic disorder, and to respond to a series of questions with variables that presumably limited successful symptom reduction in clinical work using CBT to treat panic disorder. The final database included responses from 338 participants who varied in experience in applying CBT to the treatment of panic disorders. Participants identified a wide range of patient factors that were barriers to symptom reduction, including symptoms related to panic, motivation, social system, and the psychotherapy relationship, in addition to specific problems with implementing CBT for the treatment of panic disorder. © 2013.

  6. Ten-year experience of recombinant activated factor VII use in surgical patients with congenital haemophilia with inhibitors or acquired haemophilia in Japan.

    Science.gov (United States)

    Takedani, H; Shima, M; Horikoshi, Y; Koyama, T; Fukutake, K; Kuwahara, M; Ishiguro, N

    2015-05-01

    Patients with congenital haemophilia with inhibitors or acquired haemophilia are at risk of bleeding complications during surgery. In these patients, replacement therapy for the missing coagulation factor is ineffective, and a bypassing agent such as recombinant activated factor VII (rFVIIa) is required to manage bleeding. To evaluate the safety and haemostatic efficacy of rFVIIa treatment in Japanese patients with congenital haemophilia with inhibitors to FVIII/FIX or acquired haemophilia undergoing surgery. Postmarketing surveillance data from May 2000 to March 2010 were analysed to assess the haemostatic efficacy of 38 procedures in 22 patients with congenital haemophilia A, 13 procedures in seven patients with congenital haemophilia B, and five procedures in five patients with acquired haemophilia. Postoperative bleeding control was judged to be effective (bleeding was stopped completely or reduced considerably) for 34/38 procedures (89%) in patients with congenital haemophilia A, 10/13 procedures (77%) in patients with congenital haemophilia B, and 4/5 procedures (80%) in patients with acquired haemophilia. Tranexamic acid was used concomitantly for 36/56 procedures (64%). Safety was analysed for 66 procedures in 37 patients. Adverse effects potentially related to rFVIIa treatment included mild superficial thrombophlebitis, mild decrease in platelet count, and mild elevation of the serum alanine transaminase level in one patient each. All adverse effects resolved without treatment. Administration of rFVIIa provided adequate haemostasis without serious adverse effects in the majority of cases. The efficacy and safety data in Japanese patients were similar to previously published data from other countries. © 2014 The Authors. Haemophilia Published by John Wiley & Sons Ltd.

  7. Maladaptive Behavior in Autism Spectrum Disorder: The Role of Emotion Experience and Emotion Regulation

    OpenAIRE

    Samson, Andrea Christiane; Hardan, Antonio Y.; Lee, Ihno A.; Phillips, Jennifer M.; Gross, James J.

    2015-01-01

    Maladaptive behavior is common in Autism Spectrum Disorder (ASD). However, the factors that give rise to maladaptive behavior in this context are not well understood. The present study examined the role of emotion experience and emotion regulation in maladaptive behavior in individuals with ASD and typically developing (TD) participants. Thirty-one individuals with ASD and 28 TD participants and their parents completed questionnaires assessing emotion experience, regulation, and maladaptive b...

  8. Experiences of Individuals Suffering from Obsessive Compulsive Disorder: A Qualitative Study

    National Research Council Canada - National Science Library

    Anindita Bhattacharya; Amool Ranjan Singh

    2015-01-01

    .... This study helps in reaching the depths of life experiences of individuals suffering from obsessive compulsive disorder and how it affects their life in the domains of family, interpersonal relationships, occupation and self- concept. The main themes identified were that of "Connection vs. Disconnection," "Feeling of Guilt," and "Authenticity" as particularly important areas for clinical practice and future research.

  9. The Experience of Anxiety in Young Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Trembath, David; Germano, Carmela; Johanson, Graeme; Dissanayake, Cheryl

    2012-01-01

    Anxiety is known to be common among young adults with autism spectrum disorders (ASD), yet little is known about the nature of their experiences or the strategies they use to live and cope with their reported anxiety. In this qualitative study, we began to address this issue through two focus groups involving 11 young adults with ASD, and 10…

  10. Implicit and Explicit Theory of Mind Reasoning in Autism Spectrum Disorders: The Impact of Experience

    Science.gov (United States)

    Schuwerk, Tobias; Vuori, Maria; Sodian, Beate

    2015-01-01

    This study aimed to investigate the relationship between explicit and implicit forms of Theory of Mind reasoning and to test the influence of experience on implicit Theory of Mind reasoning in individuals with autism spectrum disorders and in neurotypical adults. Results from two standard explicit Theory of Mind tasks are mixed: Individuals with…

  11. Chronic ventilation and social participation: experiences of men with neuromuscular disorders

    NARCIS (Netherlands)

    Dr. A.L. van Staa; MSc S.S. van Huijzen

    2013-01-01

    Objective: The purpose of this study was to investigate how mechanical ventilation-dependent adults with neuromuscular disorders experience their occupational and social participation. Methods: Data were collected through two successive focusgroup discussions with six men (aged 23–40 years) living

  12. Experiences of Sex Education and Sexual Awareness in Young Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Hannah, Laura A.; Stagg, Steven D.

    2016-01-01

    The research investigated feelings towards sex education and sexual awareness in young adults with autism spectrum disorder (ASD). Data were generated from the sexual knowledge, experiences, feelings and needs questionnaire (McCabe et al. 1999), the sexual awareness questionnaire (Snell et al. 1991) and semi-structured interviews. Twenty typically…

  13. The Experience of Military Families with Children with Autism Spectrum Disorders during Relocation and Separation

    Science.gov (United States)

    Davis, Jennifer M.; Finke, Erinn H.

    2015-01-01

    Military families with a child with autism spectrum disorder (ASD) are underrepresented in the literature. In order to provide appropriate services, research must be done to determine the needs of these families. A qualitative methodology was used to interview military spouses with children with ASD about their experiences with therapeutic…

  14. Parental Beliefs and Experiences Regarding Involvement in Intervention for Their Child with Speech Sound Disorder

    Science.gov (United States)

    Watts Pappas, Nicole; McAllister, Lindy; McLeod, Sharynne

    2016-01-01

    Parental beliefs and experiences regarding involvement in speech intervention for their child with mild to moderate speech sound disorder (SSD) were explored using multiple, sequential interviews conducted during a course of treatment. Twenty-one interviews were conducted with seven parents of six children with SSD: (1) after their child's initial…

  15. Maladaptive Behavior in Autism Spectrum Disorder: The Role of Emotion Experience and Emotion Regulation

    Science.gov (United States)

    Samson, Andrea C.; Hardan, Antonio Y.; Lee, Ihno A.; Phillips, Jennifer M.; Gross, James J.

    2015-01-01

    Maladaptive behavior is common in Autism Spectrum Disorder (ASD). However, the factors that give rise to maladaptive behavior in this context are not well understood. The present study examined the role of emotion experience and emotion regulation in maladaptive behavior in individuals with ASD and typically developing (TD) participants.…

  16. Educators' Relational Experiences with Learners Identified with Fetal Alcohol Spectrum Disorder

    Science.gov (United States)

    Van Schalkwyk, Izanette; Marais, Sandra

    2017-01-01

    The focus of this research is educators' relational experiences with learners presumed to have Fetal Alcohol Spectrum Disorder (FASD) in a South African school community. Although relational interaction (usually seen as trusting and caring) is an integral aspect of the learning environment, relational functioning within this context is seriously…

  17. Home Sweet Home? Families' Experiences with Aggression in Children with Autism Spectrum Disorders

    Science.gov (United States)

    Hodgetts, Sandra; Nicholas, David; Zwaigenbaum, Lonnie

    2013-01-01

    Although not inherent to the diagnosis, many individuals with autism spectrum disorders (ASD) display aggressive behavior. This study examined the experiences of families living with individuals with ASD who also demonstrate aggressive behaviors. Using a qualitative approach, semistructured interviews were conducted with parents of nine males with…

  18. Considerations on the etiology of congenital Brown syndrome.

    Science.gov (United States)

    Coussens, Tracey; Ellis, Forrest J

    2015-07-01

    Brown syndrome is an ocular motility disorder characterized by limited volitional and passive elevation of the eye in adduction. Although originally thought due to abnormalities in the trochlea or tendon sheath (limiting the free movement of the tendon through the trochlea), recent evidence suggests that some cases of congenital Brown syndrome may be related to neurodevelopmental abnormalities of the extraocular muscles (congenital cranial dysinnervation disorders, CCDD). CCDD is a term encompassing congenital abnormalities of eye movements caused by congenital innervational abnormalities. The abnormal development of cranial nerve nuclei or abnormalities in cranial nerve axonal transport affects the development of the extraocular muscle(s). Currently, congenital fibrosis of the extraocular muscles, Duane syndrome, Moebius syndrome, Horizontal gaze palsy and progressive scoliosis, and synergistic divergence are included as CCDDs. In addition, congenial ptosis, Jaw Wink ptosis, and congenital superior oblique palsy are also included. Recently, it has been suggested that some cases of congenital Brown syndrome and congenital superior oblique paresis are related, and these entities may be part of the CCDDs spectrum. Important findings regarding the cause of congenital Brown syndrome will be reviewed.

  19. Is Congenital Syphilis Really Congenital Syphilis?

    Directory of Open Access Journals (Sweden)

    Yi Li

    2006-01-01

    Full Text Available Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US. However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital syphilis CDC collection forms (form 73.126 were reviewed for the years in question. The reported congenital syphilis cases in the year 2002–2004 in Detroit were reviewed. No cases met confirmed case criteria and few probable cases were based on neonatal evaluations. The majority of “congenital syphilis” cases were established based on incomplete maternal data such as missing followup serologic titers in the absence of complete neonatal information. In conclusion, although the reported congenital syphilis rate in Detroit is alarmingly high, the true occurrence of congenital syphilis is likely to have been overstated. A health department reporting program that includes more diligent neonatal followup would allow for a more accurate representation of this public health concern.

  20. 38 CFR 4.9 - Congenital or developmental defects.

    Science.gov (United States)

    2010-07-01

    ... SCHEDULE FOR RATING DISABILITIES General Policy in Rating § 4.9 Congenital or developmental defects. Mere..., personality disorder and mental deficiency are not diseases or injuries in the meaning of applicable legislation for disability compensation purposes. ...

  1. Dissociative disorders and possession experiences in Israel: a comparison of opiate use disorder patients, Arab women subjected to domestic violence, and a nonclinical group.

    Science.gov (United States)

    Somer, Eli; Ross, Colin; Kirshberg, Revital; Bakri, Rana Shawahdy; Ismail, Shefa

    2015-02-01

    This study examined the association between exposure to domestic violence and dissociative symptoms. A sample of 68 Israeli opiate use disorder patients in recovery, 80 battered Arab Israeli women, and 103 respondents from a community sample participated in structured interviews that included the Dissociative Disorders Interview Schedule (DDIS), the Dissociative Trance Disorder Interview Schedule (DTDIS), and the Dissociative Experiences Scale (DES). As predicted, community participants reported significantly less exposure to traumatizing events and lower levels of dissociative psychopathology than individuals sampled from specialized treatment centers. In all, 91% of battered female participants were taxon-positive for dissociative disorder with 1 of every 2 respondents reporting symptoms corresponding to dissociative amnesia and depersonalization disorder, suggesting that this group may be particularly vulnerable to dissociative psychopathology. Extrasensory and paranormal experiences (ESP) and dissociative trance disorder experiences were strongly related to dissociative experiences and features of dissociative identity disorder (DID). These statistical associations suggest that dissociative disorders and ESP/trance experiences may share an underlying construct. Further research is needed on trauma and dissociation among female victims of domestic abuse in patriarchal, collectivist societies, particularly in the Arab world. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  2. Life adverse experiences in relation with obesity and binge eating disorder: A systematic review

    Science.gov (United States)

    Palmisano, Giovanni Luca; Innamorati, Marco; Vanderlinden, Johan

    2016-01-01

    Background and aims Several studies report a positive association between adverse life experiences and adult obesity. Despite the high comorbidity between binge eating disorder (BED) and obesity, few authors have studied the link between trauma and BED. In this review the association between exposure to adverse life experiences and a risk for the development of obesity and BED in adulthood is explored. Methods Based on a scientific literature review in Medline, PubMed and PsycInfo databases, the results of 70 studies (N = 306,583 participants) were evaluated including 53 studies on relationship between adverse life experiences and obesity, 7 studies on post-traumatic stress disorder (PTSD) symptoms in relation to obesity, and 10 studies on the association between adverse life experiences and BED. In addition, mediating factors between the association of adverse life experiences, obesity and BED were examined. Results The majority of studies (87%) report that adverse life experiences are a risk factor for developing obesity and BED. More precisely a positive association between traumatic experiences and obesity and PTSD and obesity were found, respectively, in 85% and 86% of studies. Finally, the great majority of studies (90%) between trauma and the development of BED in adulthood strongly support this association. Meanwhile, different factors mediating between the trauma and obesity link were identified. Discussion and conclusions Although research data show a strong association between life adverse experiences and the development of obesity and BED, more research is needed to explain this association. PMID:28092189

  3. Life adverse experiences in relation with obesity and binge eating disorder: A systematic review.

    Science.gov (United States)

    Palmisano, Giovanni Luca; Innamorati, Marco; Vanderlinden, Johan

    2016-03-01

    Background and aims Several studies report a positive association between adverse life experiences and adult obesity. Despite the high comorbidity between binge eating disorder (BED) and obesity, few authors have studied the link between trauma and BED. In this review the association between exposure to adverse life experiences and a risk for the development of obesity and BED in adulthood is explored. Methods Based on a scientific literature review in Medline, PubMed and PsycInfo databases, the results of 70 studies (N = 306,583 participants) were evaluated including 53 studies on relationship between adverse life experiences and obesity, 7 studies on post-traumatic stress disorder (PTSD) symptoms in relation to obesity, and 10 studies on the association between adverse life experiences and BED. In addition, mediating factors between the association of adverse life experiences, obesity and BED were examined. Results The majority of studies (87%) report that adverse life experiences are a risk factor for developing obesity and BED. More precisely a positive association between traumatic experiences and obesity and PTSD and obesity were found, respectively, in 85% and 86% of studies. Finally, the great majority of studies (90%) between trauma and the development of BED in adulthood strongly support this association. Meanwhile, different factors mediating between the trauma and obesity link were identified. Discussion and conclusions Although research data show a strong association between life adverse experiences and the development of obesity and BED, more research is needed to explain this association.

  4. The Experience of Social Participation in Everyday Contexts Among Individuals with Autism Spectrum Disorders: An Experience Sampling Study.

    Science.gov (United States)

    Chen, Yu-Wei; Bundy, Anita; Cordier, Reinie; Chien, Yi-Ling; Einfeld, Stewart

    2016-04-01

    This study explored the everyday life experiences of individuals with an autism spectrum disorder (ASD). Fourteen Australians and 16 Taiwanese (aged 16-45 years) with Asperger syndrome/high functioning autism recorded what they were doing, level of interest/involvement, emotional reactions and preference for being alone 7 times/day for 7 days. Multilevel analyses showed that 'solitary/parallel leisure' and 'social activities' were positively associated with interest and involvement. Engaging in these two activities and interacting with friends were positively associated with enjoyment. However, engaging in 'social activities' and having less severe ASD symptoms were associated with in-the-moment anxiety. Severity of ASD and social anxiety moderated experience in social situations. The findings highlight the importance of considering the in-the-moment experience of people with ASD.

  5. Is Congenital Syphilis Really Congenital Syphilis?

    OpenAIRE

    Yi Li; Bernard Gonik

    2006-01-01

    Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US). However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital syphilis C...

  6. GPs' experiences of children with anxiety disorders in primary care: a qualitative study.

    Science.gov (United States)

    O'Brien, Doireann; Harvey, Kate; Young, Bridget; Reardon, Tessa; Creswell, Cathy

    2017-12-01

    Anxiety disorders have a median age of onset of 11 years and are the most common emotional disorders in childhood; however, a significant proportion of those affected do not access professional support. In the UK, GPs are often the first medical professional that families see so are in a prime position to support children with anxiety disorders; however, currently there is little research available on GPs' perspectives on and experiences of supporting children with these disorders. To explore the experiences of GPs in relation to identification, management, and access to specialist services for children (GPs in primary care throughout England. GPs reflected a diverse group in relation to the ethnic and socioeconomic profile of registered patients, GP age, sex, professional status, previous engagement with research, and practice size and location. Purposive sampling was used to recruit GPs until theoretical saturation was reached. Data were analysed using a constant comparative method of thematic analysis. Data from 20 semi-structured interviews were organised into three themes: decision making, responsibility, and emotional response, with an overarching theme of GPs feeling ill equipped. These themes were retrospectively analysed to illustrate their role at different stages in the primary care process (identification, management, and access to specialist services). GPs feel ill equipped to manage and support childhood anxiety disorders, demonstrating a need for medical training to include greater emphasis on children's mental health, as well as potential for greater collaboration between primary and specialist services. © British Journal of General Practice 2017.

  7. Being altruistically egoistic-Nursing aides' experiences of caring for older persons with mental disorders.

    Science.gov (United States)

    Martinsson, Gunilla; Wiklund-Gustin, Lena; Lindholm, Christina; Fagerberg, Ingegerd

    2011-01-01

    Older persons with mental disorders, excluding dementia disorders, constitute a vulnerable group of people. With the future international increase in the older population, mental disorders will increase as well, thus entailing new challenges for their caregivers. These older persons often remain in their own homes, and in Sweden they are cared for by nursing aides. With little previous research, an increased workload and facing new strenuous situations, it is important to make use of the knowledge the nursing aides possess and to deepen the understanding of their experiences. The study aimed at illuminating the meaning of caring for older persons with mental disorders as experienced by nursing aides in the municipal home help service. Interviews with nine female nursing aides were performed and analysed with a phenomenological hermeneutical research method inspired by the philosophy of Paul Ricoeur. Being altruistically egoistic emerged as a main theme in the nursing aides' narratives. The nursing aides' experiences could be interpreted as a movement between being altruistic and egoistic. The findings revealed a continuous distancing by the nursing aides and their struggle to redress the balance between their altruistic and egoistic actions. Caring for these older persons constitutes a complex situation where distancing functions as a recourse to prioritize oneself and to diminish the value of caring. The study suggests that an increased knowledge base on older persons with mental disorders, followed by continuous supervision, is necessary for the nursing aides to improve the quality of the care given.

  8. Major depressive disorder: a qualitative study on the experiences of Iranian patients.

    Science.gov (United States)

    Amini, Kourosh; Negarandeh, Reza; Cheraghi, Mohammad Ali; Eftekhar, Mehrdad

    2013-09-01

    Major depressive disorder (MDD) is one the most common mental disorders; it affects about 5-10% of the world population. This study explores the experiences of people with major depressive disorder in Zanjan, Iran. In order to identify recurring themes and patterns in individuals' experiences of major depressive disorder, semi-structured interviews with 18 patients were recorded and transcribed verbatim. The transcripts were then analyzed based on conventional qualitative content analysis. Five main categories emerged. The first category was called emotional paralysis and included the subcategories feeling severely depressed; feeling anxious; feeling impatient and irritable; and having dyshedonia. The second category was disturbance of thinking and was comprised of the subcategories of preoccupation, instable spiritual beliefs, and guilt. Cognitive decline was the third identified category and was further divided into subcategories of frustration, unawareness of the disorder, negative evaluation, indecisiveness, and loss of focus and loss of memory. Another major category was physical illnesses with the subcategories of physical discomfort, sleep problems, appetite disturbance, facial changes, sexual dysfunction, and medical conditions. The final category was failure in life, which had failure in personal affairs, jeopardized interpersonal relations, and unstable work life as subcategories. These findings provide a base for further research in this area. They also have clinical relevance for health care providers working with patients with MDD. Related cultural issues also are discussed.

  9. Current psychiatric disorders in patients with epilepsy are predicted by maltreatment experiences during childhood.

    Science.gov (United States)

    Labudda, Kirsten; Illies, Dominik; Herzig, Cornelia; Schröder, Katharina; Bien, Christian G; Neuner, Frank

    2017-09-01

    Childhood maltreatment has been shown to be a risk factor for the development of psychiatric disorders. Although the prevalence of psychiatric disorders is high in epilepsy patients, it is unknown if childhood maltreatment experiences are elevated compared to the normal population and if early maltreatment is a risk factor for current psychiatric comorbidities in epilepsy patients. This is the main purpose of this study. Structured interviews were used to assess current Axis I diagnoses in 120 epilepsy patients from a tertiary Epilepsy Center (34 TLE patients, 86 non-TLE patients). Childhood maltreatment in the family and peer victimization were assessed with validated questionnaires. Patients' maltreatment scores were compared with those of a representative matched control group. Logistic regression analysis was conducted to assess the potential impact of childhood maltreatment on current psychiatric comorbidity in epilepsy patients. Compared to a matched control group, epilepsy patients had higher emotional and sexual maltreatment scores. Patients with a current psychiatric diagnosis reported more family and peer maltreatment than patients without a psychiatric disorder. Family maltreatment scores predicted the likelihood of a current psychiatric disorder. TLE patients did not differ from non-TLE patients according to maltreatment experiences and rates of current psychiatric disorders. Our findings suggest that in epilepsy patients emotional and sexual childhood maltreatment is experienced more often than in the normal population and that early maltreatment is a general risk factor for psychiatric comorbidities in this group. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Being altruistically egoistic—Nursing aides’ experiences of caring for older persons with mental disorders

    Science.gov (United States)

    Wiklund-Gustin, Lena; Lindholm, Christina; Fagerberg, Ingegerd

    2011-01-01

    Older persons with mental disorders, excluding dementia disorders, constitute a vulnerable group of people. With the future international increase in the older population, mental disorders will increase as well, thus entailing new challenges for their caregivers. These older persons often remain in their own homes, and in Sweden they are cared for by nursing aides. With little previous research, an increased workload and facing new strenuous situations, it is important to make use of the knowledge the nursing aides possess and to deepen the understanding of their experiences. The study aimed at illuminating the meaning of caring for older persons with mental disorders as experienced by nursing aides in the municipal home help service. Interviews with nine female nursing aides were performed and analysed with a phenomenological hermeneutical research method inspired by the philosophy of Paul Ricoeur. Being altruistically egoistic emerged as a main theme in the nursing aides’ narratives. The nursing aides’ experiences could be interpreted as a movement between being altruistic and egoistic. The findings revealed a continuous distancing by the nursing aides and their struggle to redress the balance between their altruistic and egoistic actions. Caring for these older persons constitutes a complex situation where distancing functions as a recourse to prioritize oneself and to diminish the value of caring. The study suggests that an increased knowledge base on older persons with mental disorders, followed by continuous supervision, is necessary for the nursing aides to improve the quality of the care given. PMID:22007261

  11. The anatomy of empathy: Vicarious experience and disorders of social cognition.

    Science.gov (United States)

    Lockwood, Patricia L

    2016-09-15

    Empathy, the ability to vicariously experience and to understand the affect of other people, is fundamental for successful social-cognitive ability and behaviour. Empathy is thought to be a critical facilitator of prosocial behaviour and is disrupted in a number of psychiatric and neurological disorders. Research has begun to uncover the neural basis of such 'vicarious experience', which has been studied as a proxy measure of empathy. Together, these studies have identified portions of the insula and anterior cingulate cortex as critically involved. A key debate is whether overlapping or non-overlapping brain areas respond to personal and vicarious experience. This review will highlight emerging evidence for both types of brain response. Importantly, animal models have suggested that there are central divisions between the anterior cingulate gyrus and anterior cingulate sulcus that may be crucial for understanding social behaviour. Attention to this specific anatomy of vicarious processing could therefore help shed light on the functional profile of empathy. Studies in individuals with psychopathy and autism spectrum disorders have found that vicarious experience is atypical. However, the precise nature of these atypicalities is mixed. Understanding the mechanisms of vicarious experience can enhance our knowledge of the neural basis of empathy and, ultimately, help those with disorders of social cognition and behaviour. Copyright © 2016 The Author. Published by Elsevier B.V. All rights reserved.

  12. HN(CA)N and HN(COCA)N experiments for assignment of large disordered proteins

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Xiao; Yang, Daiwen, E-mail: dbsydw@nus.edu.sg [National University of Singapore, Department of Biological Sciences (Singapore)

    2013-10-15

    Two new 3D HN-based experiments are proposed for backbone assignment of large disordered proteins. The spectra obtained with the new pulse schemes are free of redundant diagonal peaks (H{sub i}N{sub i}-N{sub i}) and provide sequential correlations (H{sub i}N{sub i}-N{sub i+1} and H{sub i}N{sub i}-N{sub i-1}) not only between adjacent non-proline residues but also between non-proline and proline residues. The experiments have been demonstrated on an intrinsically disordered protein with 306 amino acids including 64 proline residues. Using the two experiments, we obtained nearly complete assignments of backbone amides and proline {sup 15}N spins except for 4 proline and 4 non-proline residues.

  13. Impact of the International Quality Improvement Collaborative on outcomes after congenital heart surgery: A single center experience in a developing economy

    Directory of Open Access Journals (Sweden)

    Rakhi Balachandran

    2015-01-01

    Full Text Available Background: The International Quality Improvement Collaborative (IQIC for Congenital Heart Surgery in Developing Countries was initiated to decrease mortality and major complications after congenital heart surgery in the developing world. Objective: We sought to assess the impact of IQIC on postoperative outcomes after congenital heart surgery at our institution. Methods: The key components of the IQIC program included creation of a robust worldwide database on key outcome measures and nurse education on quality driven best practices using telemedicine platforms. We evaluated 1702 consecutive patients ≤18 years undergoing congenital heart surgery in our institute from January 2010-December 2012 using the IQIC database. Preoperative variables included age, gender, weight at surgery and surgical complexity as per the RACHS-1 model. The outcome variables included, in- hospital mortality, duration of ventilation, intensive care unit (ICU stay, bacterial sepsis and surgical site infection. Results: The 1702 patients included 771(45.3% females. The median age was 8 months (0.03-216 and the median weight was 6.1Kg (1-100. The overall in-hospital mortality was 3.1%, Over the three years there was a significant decline in bacterial sepsis (from 15.1%, to 9.6%, P < 0.001, surgical site infection (11.1% to 2.4%, P < 0.001 and duration of ICU stay from 114(8-999 hours to 72 (18-999 hours (P < 0.001 The decline in mortality from (4.3% to 2.2% did not reach statistical significance. Conclusions: The inclusion of our institution in the IQIC program was associated with improvement in key outcome measures following congenital heart surgery over a three year period.

  14. The relationship between bipolar disorder and cannabis use in daily life: an experience sampling study.

    Directory of Open Access Journals (Sweden)

    Elizabeth Tyler

    Full Text Available Although cannabis use is common in bipolar disorder and may contribute to worse clinical outcomes, little is understood about the relationship between this drug and bipolar disorder over the course of daily life. The aim of study was to examine the effect of cannabis on affect and bipolar symptoms in a group of individuals with bipolar disorder.Twenty-four participants with bipolar disorder type I or type II completed diaries for 6 days using Experience Sampling Methodology to investigate the temporal associations between cannabis, affect and bipolar disorder symptoms.The results indicated that higher levels of positive affect increase the odds of using cannabis (OR:1.25 ,CI:1.06-1.47, P=0.008. However, neither negative affect, manic nor depressive symptoms predicted the use of cannabis. Cannabis use was associated with subsequent increases in positive affect (β=0.35, CI:0.20-0.51, P=0.000, manic symptoms (β=0.20,CI:0.05-0.34, P=0.009 and depressive symptoms (β= 0.17,CI:0.04-0.29, P=0.008.The findings indicate that cannabis use is associated with a number of subsequent psychological effects. However there was no evidence that individuals with BD were using cannabis to self-medicate minor fluctuations in negative affect or bipolar disorder symptoms over the course of daily life. The findings in relation to existing literature and clinical implications are discussed.

  15. Congenital fibrosis of the extraocular muscles

    Directory of Open Access Journals (Sweden)

    Pascale Cooymans

    2010-01-01

    Conclusions : CFEOM is a rare, congenital, and non-progressive disorder with multiple extra ocular muscle restrictions. CFEOM can be associated with neuro-radiological abnormalities; its diagnosis and classification is defined by clinical characteristics and genetics. Options for treatment are limited and difficult.

  16. [Congenital heart diseases in clinical practice].

    Science.gov (United States)

    Ratti, Carlo; Veronesi, Benedetta; Grassi, Laura; Bompani, Bruno

    2012-05-01

    Congenital heart diseases are abnormalities in the heart's structure that are present at birth. Some are known to be associated with genetic disorders. They affect 8 out of every 1,000 newborns. They range from simple defects with no symptoms to complex defects. They are divided in two types: cyanotic and not cyanotic.

  17. Anaesthesia and familial dysautonomia with congenital insensitivity ...

    African Journals Online (AJOL)

    Adele

    cal disorders Tay-Sachs disease and Gaucher disease. Other heredi- tary diseases include cystic fibrosis, Crohn's disease, Fanconi's anaemia, Niemann Pick disease, Mucolipidosis IV, Haemophilia C and congenital adrenal hyperplasia. References. 1. Axelrod FB Familial dysautonomia. Muscle Nerve. 2004;29(3):352-63.

  18. Puberty and fertility in congenital adrenal hyperplasia.

    NARCIS (Netherlands)

    Otten, B.J.; Stikkelbroeck, M.M.L.; Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.

    2005-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. The symptoms and signs of CAH depend on the degree of enzyme deficiency; severe salt-wasting (SW) form, less severe simple virilizing (SV) form and mild nonclassic (NC) form. In this paper, puberty and fertility in CAH

  19. Genetics of congenital hypogonadotropic hypogonadism in Denmark

    DEFF Research Database (Denmark)

    Tommiska, Johanna; Känsäkoski, Johanna; Christiansen, Peter

    2014-01-01

    Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete/absent puberty caused by deficiency or defective action of gonadotropin-releasing hormone (GnRH). The phenotypic features of patients with CHH vary from genital hypoplasia and absent puberty to reversal...

  20. Effects, experiences, and impact of stigma on patients with bipolar disorder

    Directory of Open Access Journals (Sweden)

    Mileva VR

    2013-01-01

    Full Text Available Viktoria R Mileva,1 Gustavo H Vázquez,2 Roumen Milev31Psychology, School of Natural Sciences, University of Stirling, Stirling, UK; 2Department of Neurosciences, University of Palermo, Buenos Aires, Argentina; 3Department of Psychiatry, Queen's University, Kingston, ON, CanadaBackground: Many people with mental illness experience stigma that has impacted their lives. In this study, we validated the Inventory of Stigmatizing Experiences (ISE as a tool to help quantify the stigma experienced by patients with bipolar disorder and its impact on their lives. The ISE has two components, ie, the Stigma Experiences Scale (SES and the Stigma Impact Scale (SIS, which were administered to a population of Argentinean patients with bipolar disorder. We characterized the differences between these two populations using the SES and SIS. Finally, we compared SES and SIS scores with those in a population of Canadian patients with bipolar disorder.Methods: The SES and SIS scales were administered to tertiary care patients with bipolar I and II disorder in Argentina (n = 178 and Canada (n = 214.Results: In this study, we validated both SES (Kuder–Richardson coefficient of reliability, 0.78 and SIS (Cronbach's alpha, 0.91 scales in a population of Argentinean patients with bipolar disorder. There were no significant differences in stigma between patients with bipolar I or II disorder on SES or SIS. However, over 50% of all respondents believed that the average person is afraid of those with mental illnesses, that stigma associated with mental illness has affected their quality of life, and that their self-esteem has suffered due to stigma. In comparison with the Canadian population, Argentinean participants scored lower on both the SES and SIS, which may be due to cultural differences or to differences in population characteristics.Conclusion: Stigma associated with mental illness is serious and pervasive. If we are to find successful strategies to mitigate

  1. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.

    Science.gov (United States)

    Lim, Key Hwan; Engle, Elizabeth C; Demer, Joseph L

    2007-04-01

    High-resolution magnetic resonance imaging (MRI) can now directly demonstrate innervation to extraocular muscles and quantify optic nerve size. A quantitative MRI technique was developed to study the oculomotor nerve (CN3) and applied to congenital fibrosis of extraocular muscles (CFEOM) and congenital oculomotor palsy. The subarachnoid portions of the CN3s were imaged with a 1.5-T MRI scanner and conventional head coils, acquiring heavily T(2)-weighted oblique axial planes 1-mm thick and parallel to the optic chiasm. Thirteen normal subjects, 14 with CFEOM, and 3 with congenital CN3 palsy were included. Digital image analysis was used to measure CN3 diameter, which was correlated with motility findings. In CFEOM, CN3 diameter was bilaterally subnormal in eight subjects, unilaterally subnormal in three subjects, and normal in three subjects. Mean +/- SD CN3 diameter in CFEOM was 1.14 +/- 0.61 mm, significantly smaller than the diameter in normal subjects, which measured 2.01 +/- 0.36 mm (P congenital CN3 palsy showed bilateral CN3 hypoplasia, but CN3 diameter was normal in two other subjects with congenital CN3 palsy. Unilateral or bilateral hypoplasia of CN3 is quantitatively demonstrable using MRI in many cases of CFEOM and occasionally in congenital CN3 palsy. Variations in CN3 diameter in CFEOM and congenital CN3 palsy suggest mechanistic heterogeneity of these disorders that may be clarified by further imaging and genetic studies.

  2. Correlation of weight-based objectifying experiences with depression and eating disorder in overweight women

    Directory of Open Access Journals (Sweden)

    Leila Khabir

    2015-06-01

    Full Text Available Background: This study was carried out to investigate the correlation of self-objectification, internalized weight bias and body image concern with depression and eating disorder Methods: A total of 200 female students with overweight and obesity were selected using convenience random sampling among female students with overweight and obesity referring to Shiraz sport clubs in 2013. They responded to Stigmatizing Situations Inventory (SSI, Trait Self- Objectification Questionnaire (TSOQ, Weight Bias Internalization Scale (WBIS, Body Image Concern Inventory (BICI, Center for Epidemiological Studies- Depression Scale (CES-D and Eating Disorder Diagnostic Scale (EDDS. Data were analyzed by structural equation modeling (SEM. Results: Result showed that self-objectification, internalized weight bias and body image concern can mediate the relationship of weight-based objectifying experiences with depression and eating disorder. Conclusion: The findings of this study showed that fitness index of the proposed model can acceptably fit the data.

  3. Direct experience while eating: Laboratory outcomes among individuals with eating disorders versus healthy controls.

    Science.gov (United States)

    Elices, Matilde; Carmona, Cristina; Narváez, Vanessa; Seto, Victoria; Martin-Blanco, Ana; Pascual, Juan C; Soriano, José; Soler, Joaquim

    2017-12-01

    To compare individuals with eating disorders (EDs) to healthy controls (HCs) to assess for differences in direct engagement in the eating process. Participants (n=58) were asked to eat an orange slice. To assess the degree of direct engagement with the eating process, participants were asked to write down 10 thoughts about the experience of eating the orange slice. Next, the participants were instructed to classify the main focus of each thought as either experiential ("direct experience") or analytical ("thinking about"). A direct experience index (DEI) was computed by dividing the number of times that participants classified an experience as a "direct experience" (the numerator) by the total number of all observations (i.e., direct experience+thinking about). Participants also completed the Five Facet Mindfulness Questionnaire (FFMQ) and the Experiences Questionnaire (EQ) to assess mindfulness facets and decentering, respectively. Compared to controls, participants in the EDs group presented significantly lower levels of direct experience during the eating task (EDs group: mean=43.54, SD=29.64; HCs group: mean=66.17, SD=22.23, p=0.03). Participants in the EDs group also scored significantly lower on other mindfulness-related variables. These findings suggest that engagement with the direct experience of eating is lower in individuals with EDs. Future research should investigate the role of mindfulness-based interventions to address direct experience while eating in individuals with EDs. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. What happens after diagnosis? Understanding the experiences of patients with newly-diagnosed bipolar disorder.

    Science.gov (United States)

    Proudfoot, Judith G; Parker, Gordon B; Benoit, Megan; Manicavasagar, Vijaya; Smith, Meg; Gayed, Aimee

    2009-06-01

    Bipolar disorder is chronic condition involving episodes of both depression and elevated mood, associated with significant disability and high relapse rates. Recent estimates suggest a lifetime prevalence of 5%. Little is known about the subjective experiences of patients after receiving a diagnosis of bipolar disorder, and the impact of these experiences on patients' willingness and ability to work with their health professionals to find the most effective combination of treatments and to set up self-management plans. This paper describes a qualitative study exploring the experiences and difficulties faced by patients after they have received a diagnosis of bipolar disorder, as expressed online to expert patients trained to provide informed support. Qualitative study. Online communication within a public health service setting. Twenty-six participants with recently-diagnosed bipolar disorder communicated online with 'Informed Supporters', people who had been managing their bipolar disorder effectively for 2 years or more, as part of an online psycho-education programme. Participants cited unwanted side-effects of medication, coping with unpleasant symptoms, positive and negative reactions to the diagnosis, identifying early warning signs and triggers of the illness, the loss of a sense of self, uncertainty about their future and stigma as issues of major importance after diagnosis. Personal concerns and difficulties following diagnosis can undermine effective treatment, thwart self-management efforts and interfere with effective functioning. Such data are important for clinicians to take into account when they work in partnership with their patients to fine-tune treatments and help them set up self-management plans.

  5. Evaluation of a tissue-engineered bovine pericardial patch in paediatric patients with congenital cardiac anomalies: initial experience with the ADAPT-treated CardioCel® patch

    Science.gov (United States)

    Neethling, William M.L.; Strange, Geoff; Firth, Laura; Smit, Francis E.

    2013-01-01

    OBJECTIVES This study evaluated the safety, efficacy and clinical performance of the tissue-engineered ADAPT® bovine pericardial patch (ABPP) in paediatric patients with a range of congenital cardiac anomalies. METHODS In this single-centre, prospective, non-randomized clinical study, paediatric patients underwent surgery for insertion of the ABPP. Primary efficacy measures included early (8) were significantly more likely to die (P = 0.0055, 58% survival compared with 100% survival for less complex surgical repairs). In 19 patients, echocardiographic data were available at 18–36 months with no evidence of device calcification, infection, thromboembolic events or device failure. CONCLUSIONS This study demonstrates the safety and efficacy of this engineered bovine pericardial patch as a cardiovascular substitute for surgical repair of both simple and more complex congenital cardiac defects. PMID:23832918

  6. Evaluation of a tissue-engineered bovine pericardial patch in paediatric patients with congenital cardiac anomalies: initial experience with the ADAPT-treated CardioCel(R) patch.

    Science.gov (United States)

    Neethling, William M L; Strange, Geoff; Firth, Laura; Smit, Francis E

    2013-10-01

    This study evaluated the safety, efficacy and clinical performance of the tissue-engineered ADAPT® bovine pericardial patch (ABPP) in paediatric patients with a range of congenital cardiac anomalies. In this single-centre, prospective, non-randomized clinical study, paediatric patients underwent surgery for insertion of the ABPP. Primary efficacy measures included early (8) were significantly more likely to die (P = 0.0055, 58% survival compared with 100% survival for less complex surgical repairs). In 19 patients, echocardiographic data were available at 18-36 months with no evidence of device calcification, infection, thromboembolic events or device failure. This study demonstrates the safety and efficacy of this engineered bovine pericardial patch as a cardiovascular substitute for surgical repair of both simple and more complex congenital cardiac defects.

  7. Educational achievement among long-term survivors of congenital heart defects: a Danish population-based follow-up study

    DEFF Research Database (Denmark)

    Olsen, Morten; Hjortdal, Vibeke E.; Mortensen, Laust Hvas

    2011-01-01

    Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education.......Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education....

  8. Struggling for existence-Life situation experiences of older persons with mental disorders.

    Science.gov (United States)

    Martinsson, Gunilla; Fagerberg, Ingegerd; Lindholm, Christina; Wiklund-Gustin, Lena

    2012-01-01

    Older persons with mental disorders represent a vulnerable group of people with extensive and complex needs. The older population is rapidly increasing worldwide and, as a result of deinstitutionalization in mental health care, older persons are remaining at home to a greater extent. Although they constitute a large proportion of the population, older persons with mental disorders have been neglected in research as well as in care organizations. As there is little previous knowledge concerning older persons' experiences of their own situations, this study aimed to illuminate the meaning of the life situation as experienced by older persons with mental disorders (excluding dementia disorders). Interviews were conducted with seven older persons and the text was analyzed using a phenomenological hermeneutical research method, inspired by the philosophy of Paul Ricoeur. "Struggling for existence" emerged as a main theme in the older persons' narratives, understood as a loss of dignity of identity and involving being troubled and powerless as well as yearning for respect. The older persons fought to master their existence and to be seen for who they are. The study highlights the importance for caregivers, both formal and informal, to avoid focusing on the diagnoses and rather acknowledge the older persons and their lifeworld, be present in the relation and help them rebuild their dignity of identity. This study brings a new understanding about older persons with mental disorders that may help reduce stigma and contribute to planning future mental health care.

  9. Struggling for existence—Life situation experiences of older persons with mental disorders

    Science.gov (United States)

    Fagerberg, Ingegerd; Lindholm, Christina; Wiklund-Gustin, Lena

    2012-01-01

    Older persons with mental disorders represent a vulnerable group of people with extensive and complex needs. The older population is rapidly increasing worldwide and, as a result of deinstitutionalization in mental health care, older persons are remaining at home to a greater extent. Although they constitute a large proportion of the population, older persons with mental disorders have been neglected in research as well as in care organizations. As there is little previous knowledge concerning older persons’ experiences of their own situations, this study aimed to illuminate the meaning of the life situation as experienced by older persons with mental disorders (excluding dementia disorders). Interviews were conducted with seven older persons and the text was analyzed using a phenomenological hermeneutical research method, inspired by the philosophy of Paul Ricoeur. “Struggling for existence” emerged as a main theme in the older persons’ narratives, understood as a loss of dignity of identity and involving being troubled and powerless as well as yearning for respect. The older persons fought to master their existence and to be seen for who they are. The study highlights the importance for caregivers, both formal and informal, to avoid focusing on the diagnoses and rather acknowledge the older persons and their lifeworld, be present in the relation and help them rebuild their dignity of identity. This study brings a new understanding about older persons with mental disorders that may help reduce stigma and contribute to planning future mental health care. PMID:22693537

  10. Struggling for existence—Life situation experiences of older persons with mental disorders

    Directory of Open Access Journals (Sweden)

    Gunilla Martinsson

    2012-06-01

    Full Text Available Older persons with mental disorders represent a vulnerable group of people with extensive and complex needs. The older population is rapidly increasing worldwide and, as a result of deinstitutionalization in mental health care, older persons are remaining at home to a greater extent. Although they constitute a large proportion of the population, older persons with mental disorders have been neglected in research as well as in care organizations. As there is little previous knowledge concerning older persons’ experiences of their own situations, this study aimed to illuminate the meaning of the life situation as experienced by older persons with mental disorders (excluding dementia disorders. Interviews were conducted with seven older persons and the text was analyzed using a phenomenological hermeneutical research method, inspired by the philosophy of Paul Ricoeur. “Struggling for existence” emerged as a main theme in the older persons’ narratives, understood as a loss of dignity of identity and involving being troubled and powerless as well as yearning for respect. The older persons fought to master their existence and to be seen for who they are. The study highlights the importance for caregivers, both formal and informal, to avoid focusing on the diagnoses and rather acknowledge the older persons and their lifeworld, be present in the relation and help them rebuild their dignity of identity. This study brings a new understanding about older persons with mental disorders that may help reduce stigma and contribute to planning future mental health care.

  11. THE DISORDER OF KATHECHOLAMINE METABOLISM AFTER A KIDNEY RESECTION AND NEPHRECTOMY IN THE EXPERIMENT

    Directory of Open Access Journals (Sweden)

    A. P. Ivanov

    2011-01-01

    Full Text Available The experimental modeling of a kidney resection and nephrectomy in a series on 100 laboratory rats in comparison with group of the control animals has revealed essential authentic (p < 0,05 the disorder of kathecholamine metabolism not only in operating kidney, but also in opposite, and also in heart and Central nerve System. As a result of 30-day's supervision over animals is revealed, that the specified the disorder of kathecholamine metabolism in the early postoperative period after nephrectomy are expressed much in the greater degree and up to the end of experiment is saved in comparison with group of a kidney resection, in which by 30 day of experience all investigated parameters were normalized. The given study is an experimental substantiation the greater pathophysiological safety of a kidney resection in comparison with nephrectomy.

  12. THE DISORDER OF KATHECHOLAMINE METABOLISM AFTER A KIDNEY RESECTION AND NEPHRECTOMY IN THE EXPERIMENT

    Directory of Open Access Journals (Sweden)

    A. P. Ivanov

    2014-08-01

    Full Text Available The experimental modeling of a kidney resection and nephrectomy in a series on 100 laboratory rats in comparison with group of the control animals has revealed essential authentic (p < 0,05 the disorder of kathecholamine metabolism not only in operating kidney, but also in opposite, and also in heart and Central nerve System. As a result of 30-day's supervision over animals is revealed, that the specified the disorder of kathecholamine metabolism in the early postoperative period after nephrectomy are expressed much in the greater degree and up to the end of experiment is saved in comparison with group of a kidney resection, in which by 30 day of experience all investigated parameters were normalized. The given study is an experimental substantiation the greater pathophysiological safety of a kidney resection in comparison with nephrectomy.

  13. Experience of gratitude, awe and beauty in life among patients with multiple sclerosis and psychiatric disorders

    DEFF Research Database (Denmark)

    Büssing, Arndt; Wirth, Anne Gritli; Reiser, Franz

    2014-01-01

    Background: Feelings of gratitude and awe facilitate perceptions and cognitions that go beyond the focus of illness and include positive aspects of one's personal and interpersonal reality, even in the face of disease. We intended to measure feelings of gratitude, awe, and experiences of beauty...... in life among patients with multiple sclerosis and psychiatric disorders, particularly with respect to their engagement in specific spiritual/religious practices and their life satisfaction. Methods: We conducted a cross-sectional survey with standardized questionnaires to measure engagement in various...... spiritual practices (SpREUK-P) and their relation to experiences of Gratitude, Awe and Beauty in Life and life satisfaction (BMLSS-10). In total, 461 individuals (41 +/- 13 years; 68% women) with multiple sclerosis (46%) and depressive (22%) or other psychiatric disorders (32%) participated. Results: Among...

  14. Renegotiating Identities: Experiences of Loss and Recovery for Women With Bipolar Disorder.

    Science.gov (United States)

    Fernandez, Maria E; Breen, Lauren J; Simpson, Terry A

    2014-07-01

    Along with major changes in mood, people living with bipolar disorder (BD) often experience recurrent hospital admissions, feelings of failure and hopelessness, social stigma, underemployment, and a loss of independence. In this study we explored the experiences of loss, coping, and recovery in a community sample of women living with BD. Ten women each participated in a semistructured interview. We used the constant comparative method to analyze the data. We identified three themes from the data: identity bound by the diagnostic label, multidimensional effects of the bipolar disorder identity, and strategies for renegotiating identity. For these women, recovery involved an ongoing process of balancing their sick self with their healthy self. The findings contribute to conceptualizations of loss, coping mechanisms for dealing with loss, and the relevance of loss in recovery for people living at the margins with BD. © The Author(s) 2014.

  15. Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.

    Science.gov (United States)

    Furuyama, Kazumichi; Kaneko, Kiriko

    2018-01-01

    Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient's bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however, the relationship between the function of the gene products and ring sideroblasts is largely unclear. In this review article, we will focus on the iron metabolism in erythroid cells as well as in patients with congenital sideroblastic anemia.

  16. Vaginal reconstruction with sigmoid colon in patients with congenital absence of vagina and menses retention: a report of treatment experience in 22 young women.

    Science.gov (United States)

    Yang, Bin; Wang, Ning; Zhang, Shulan; Wang, Mingqian

    2013-01-01

    We evaluated the surgical feasibility, sexual satisfaction and complications of vaginal reconstruction with sigmoid colon in patients with congenital absence of vagina and menses retention. Retrospective analysis of surgical techniques and long-term postoperative follow-up was performed for 22 patients who underwent vaginal reconstruction with sigmoid colon at a single hospital between 1977 and 2011 to treat congenital absence of vagina with menses retention. All patients achieved satisfactory sexual function after marriage. No patients experienced enterospastic abdominal pain during sexual intercourse. The neovaginas accommodated two or more fingers and had depths >10 cm. The mucous membranes were soft and flexible, and secretions of the sigmoid mucosa provided adequate and acceptable lubrication. No patient required vaginal stents, and none developed vaginal stenosis or reported pain with vaginal expansion. Fifteen of the 22 patients underwent hysterectomies due to cervical agenesis; seven retained their uterus and had onset of normal menses postoperatively. Two patients became pregnant 1 year after marriage; one achieved 38-week gestation, underwent cesarean section due to premature rupture of membranes, and delivered a healthy boy. The other experienced natural incomplete abortion and underwent curettage at her local hospital. This study confirms that sigmoid colon vaginal reconstruction is a good choice for treating congenital absence of vagina and menses retention and results in the closest approximation to the physical function of a normal female vagina. Reproductive ability can be retained in many cases for patients with a well-developed uterus and cervix.

  17. Three-year experience with the Sophono in children with congenital conductive unilateral hearing loss: tolerability, audiometry, and sound localization compared to a bone-anchored hearing aid.

    Science.gov (United States)

    Nelissen, Rik C; Agterberg, Martijn J H; Hol, Myrthe K S; Snik, Ad F M

    2016-10-01

    Bone conduction devices (BCDs) are advocated as an amplification option for patients with congenital conductive unilateral hearing loss (UHL), while other treatment options could also be considered. The current study compared a transcutaneous BCD (Sophono) with a percutaneous BCD (bone-anchored hearing aid, BAHA) in 12 children with congenital conductive UHL. Tolerability, audiometry, and sound localization abilities with both types of BCD were studied retrospectively. The mean follow-up was 3.6 years for the Sophono users (n = 6) and 4.7 years for the BAHA users (n = 6). In each group, two patients had stopped using their BCD. Tolerability was favorable for the Sophono. Aided thresholds with the Sophono were unsatisfactory, as they did not reach under a mean pure tone average of 30 dB HL. Sound localization generally improved with both the Sophono and the BAHA, although localization abilities did not reach the level of normal hearing children. These findings, together with previously reported outcomes, are important to take into account when counseling patients and their caretakers. The selection of a suitable amplification option should always be made deliberately and on individual basis for each patient in this diverse group of children with congenital conductive UHL.

  18. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

    DEFF Research Database (Denmark)

    Huppke, Peter; Brendel, Cornelia; Kalscheuer, Vera

    2012-01-01

    , hearing loss, and severe developmental delay. Cerebral MRI showed pronounced cerebellar hypoplasia and hypomyelination. Homozygosity mapping was performed and displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous...... posttranslational modification of numerous proteins, without which normal lens and brain development is interrupted. Furthermore, AT-1 defects are a new and important differential diagnosis in patients with low copper and ceruloplasmin in serum.......Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. We report on five patients from four unrelated families with these biochemical findings who presented with a lethal autosomal-recessive syndrome of congenital cataracts...

  19. Relationships between self-reported childhood traumatic experiences, attachment style, neuroticism and features of borderline personality disorders in patients with mood disorders.

    Science.gov (United States)

    Baryshnikov, Ilya; Joffe, Grigori; Koivisto, Maaria; Melartin, Tarja; Aaltonen, Kari; Suominen, Kirsi; Rosenström, Tom; Näätänen, Petri; Karpov, Boris; Heikkinen, Martti; Isometsä, Erkki

    2017-03-01

    Co-occurring borderline personality disorder (BPD) features have a marked impact on treatment of patients with mood disorders. Overall, high neuroticism, childhood traumatic experiences (TEs) and insecure attachment are plausible aetiological factors for BPD. However, their relationship with BPD features specifically among patients with mood disorders remains unclear. We investigated these relationships among unipolar and bipolar mood disorder patients. As part of the Helsinki University Psychiatric Consortium study, the McLean Screening Instrument (MSI), the Experiences in Close Relationships-Revised (ECR-R), the Short Five (S5) and the Trauma and Distress Scale (TADS) were filled in by patients with mood disorders (n=282) in psychiatric care. Correlation coefficients between total scores of scales and their dimensions were estimated, and multivariate regression (MRA) and mediation analyses were conducted. Spearman's correlations were strong (rho=0.58; pmood disorders. Independent predictors for BPD features include young age, frequency of childhood traumatic experiences and high neuroticism. Insecure attachment may partially mediate the relationship between childhood traumatic experiences and borderline features among mood disorder patients. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. [Factor V congenital deficiency: about a case].

    Science.gov (United States)

    Boujrad, Saloua; El Hasbaoui, Brahim; Echahdi, Hanae; Malih, Mohamed; Agadr, Aomar

    2017-01-01

    Factor V congenital deficiency is a rare coagulation disorder initially described by Owren in 1947 and known as para hemophilia. It is transmitted through autosomal-recessive inheritance and homozygous cases are usually symptomatic. Factor V is an essential cofactor in the conversion of prothrombin to thrombin by activated factor X. In the absence of factor V, thrombin generation is slowed down and fibrin formation is delayed. This results in a bleeding tendency. We report a case of factor V congenital deficiency in an infant with recurrent epistaxis.

  1. The Mastocytosis Society survey on mast cell disorders: patient experiences and perceptions.

    Science.gov (United States)

    Jennings, Susan; Russell, Nancy; Jennings, Blair; Slee, Valerie; Sterling, Lisa; Castells, Mariana; Valent, Peter; Akin, Cem

    2014-01-01

    Mast cell diseases include mastocytosis and mast cell activation syndromes, some of which have been shown to involve clonal defects in mast cells that result in abnormal cellular proliferation or activation. Numerous clinical studies of mastocytosis have been published, but no population-based comprehensive surveys of patients in the United States have been identified. Few mast cell disease specialty centers exist in the United States, and awareness of these mast cell disorders is limited among nonspecialists. Accordingly, information concerning the experiences of the overall estimated population of these patients has been lacking. To identify the experiences and perceptions of patients with mastocytosis, mast cell activation syndromes, and related disorders, The Mastocytosis Society (TMS), a US based patient advocacy, research, and education organization, conducted a survey of its members and other people known or suspected to be part of this patient population. A Web-based survey was publicized through clinics that treat these patients and through TMS's newsletter, Web site, and online blogs. Both online and paper copies of the questionnaire were provided, together with required statements of consent. The first results are presented for 420 patients. These results include demographics, diagnoses, symptoms, allergies, provoking factors of mast cell symptoms, and disease impact. Patients with mastocytosis and mast cell activation syndromes have provided clinical specialists, collaborators, and other patients with information to enable them to explore and deepen their understanding of the experiences and perceptions of people coping with these disorders. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

  2. Dissociative experiences in obsessive-compulsive disorder and trichotillomania: clinical and genetic findings.

    Science.gov (United States)

    Lochner, Christine; Seedat, Soraya; Hemmings, Sian M J; Kinnear, Craig J; Corfield, Valerie A; Niehaus, Dana J H; Moolman-Smook, Johanna C; Stein, Dan J

    2004-01-01

    A link between dissociation proneness in adulthood and self-reports of childhood traumatic events (including familial loss in childhood, sexual/physical abuse and neglect) has been documented. Several studies have also provided evidence for an association between dissociative experiences and trauma in patients with various psychiatric disorders, including post-traumatic stress disorder, borderline personality, dissociative identity and eating disorders. Based on the relative paucity of data on dissociation and trauma in obsessive-compulsive disorder (OCD) and trichotillomania (TTM), the primary objective of this study was to examine the relationship between trauma and dissociative experiences (DE) in these two diagnostic groups. Furthermore, the availability of clinical and genetic data on this sample allowed us to explore clinical and genetic factors relevant to this association. A total of 110 OCD and 32 TTM patients were compared with respect to the degree of dissociation (using the Dissociative Experiences Scale [DES]) and childhood trauma (using the Childhood Trauma Questionnaire [CTQ]). Patients were classified on the DES as either "high" (mean DES score >/= 30) or "low" (mean DES score dissociators. Additional clinical and genetic factors were also explored with chi-square and t tests as appropriate. A total of 15.8% of OCD patients and 18.8% of TTM patients were high dissociators. OCD and TTM groups were comparable on DES and CTQ total scores, and in both OCD and TTM groups, significant positive correlations were found between mean DES scores and mean CTQ subscores of emotional abuse, physical abuse, sexual abuse, and physical neglect. In the OCD group, high dissociators were significantly younger than low dissociators, and significantly more high dissociators than low dissociators reported a lifetime (current and past) history of tics (P dissociators than low dissociators reported (lifetime) kleptomania (P =.005) and depersonalisation disorder (P =.005

  3. Congenital fibular deficiency: a review of thirty years' experience at one institution and a proposed classification system based on clinical deformity.

    Science.gov (United States)

    Birch, John G; Lincoln, Todd L; Mack, Philip W; Birch, Craig M

    2011-06-15

    Congenital longitudinal deficiency of the fibula is the most common lower extremity congenital deficiency, with a broad spectrum of severity and subsequent reconstructive treatment. Published classification schemes do not accurately predict reconstructive treatment currently in practice. We reviewed all medical records of patients with a dominant deformity of congenital fibular deficiency who were managed at our institution between 1971 and 2005. We assessed the impact of limb-length inequality, foot deformity, bilateral extremity involvement, and extent of fibular preservation on the treatment of the limb deficiency. One hundred and four patients (including twenty-two with bilateral congenital fibular deficiency) with 126 affected extremities had adequate radiographs to be included in the study. Femoral shortening was noted in seventy (85.4%) of eighty-two patients with unilateral limb involvement. Limb-length discrepancy prior to any treatment remained proportional in forty-seven (82.5%) of fifty-seven patients during an average duration of follow-up of ten years and ten months (range, two years to fifteen years and six months). Limb salvage with foot preservation was deemed feasible in thirty-eight (97.4%) of thirty-nine five-rayed feet, thirty (81.1%) of thirty-seven four-rayed feet, twenty (48.8%) of forty-one three-rayed feet, and one of nine feet having fewer than three rays. Twenty-two (41.5%) of fifty-three limbs with an absent or vestigial fibula were not treated with amputation. Of the twenty-two patients with bilateral fibular deficiency, twelve (54.5%) had preservation of both feet, three (13.6%) had unilateral amputation, and seven (31.8%) had bilateral amputation. We propose a simplified classification for congenital fibular deficiency based on the clinical status of the foot and the magnitude of limb shortening as a percentage of the contralateral limb on radiographs. This classification may be effectively applied in infancy to allow the physician

  4. Distal limb anomalies in patients with congenital dyserythropoietic anemia.

    Science.gov (United States)

    Amir, Achiya Zvi; Horev, Gadi; Yacobovich, Joanne; Bennett, Michael; Tamary, Hannah

    2017-02-01

    The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies. The patient with congenital dyserythropoietic anemia type II presented with bilateral complete osseous syndactyly of the hands, and bilateral complete cutaneous syndactyly of feet. Three of the four affected family members with congenital dyserythropoietic anemia type III had partial absence of fingers, small or absent nails, overlapping toes, and short metatarsals. We suggest that similar to congenital dyserythropoietic anemia type I, distal anomalies may appear in some patients with congenital dyserythropoietic anemia types II and III. Patients presenting with anemia and distal limb anomalies should be further investigated for the presence of congenital dyserythropoietic anemia. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  6. Congenital lipoid adrenal hyperplasia

    Science.gov (United States)

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  7. Congenital dyserythropoietic anemias.

    Science.gov (United States)

    Iolascon, Achille; Russo, Roberta; Delaunay, Jean

    2011-05-01

    Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Characteristic morphological aberrations were the cornerstone of diagnosis, but following the identification of several causative genes, the molecular approach could represent a rapid tool for the identification of these conditions. This review presents advances in diagnosis and classification of CDAs. The classification of CDAs has long been based on morphological features. Now, the discovery of some of the responsible genes allows reconsideration of part of the classification. The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1. Recently, the dramatic identification of the genes responsible for CDA II, SEC23B, and for a hitherto unnamed CDA, KLF1, took place. SEC23B encodes SEC23B which is a component of the coated vesicles transiting from the endoplasmic reticulum to the cis compartment of the Golgi apparatus. A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins. Studies of genotype-phenotype relationship, as has already been done for CDA II, will allow a more accurate prognosis. Identification of the responsible genes has opened new vistas for research on CDAs.

  8. Association of interatrial septal abnormalities with cardiac impulse conduction disorders in adult patients: experience from a tertiary center in Kosovo

    Science.gov (United States)

    Bakalli, Aurora; Pllana, Ejup; Koçinaj, Dardan; Bekteshi, Tefik; Dragusha, Gani; Gashi, Masar; Musliu, Nebih; Gashi, Zaim

    2011-01-01

    Interatrial septal disorders, which include: atrial septal defect, patent foramen ovale and atrial septal aneurysm, are frequent congenital anomalies found in adult patients. Early detection of these anomalies is important to prevent their hemodynamic and/or thromboembolic consequences. The aims of this study were: to assess the association between impulse conduction disorders and anomalies of interatrial septum; to determine the prevalence of different types of interatrial septum abnormalities; to assess anatomic, hemodynamic, and clinical consequences of interatrial septal pathologies. Fifty-three adult patients with impulse conduction disorders and patients without ECG changes but with signs of interatrial septal abnormalities, who were referred to our center for echocardiography, were included in a prospective transesophageal echocardiography study. Interatrial septal anomalies were detected in around 85% of the examined patients. Patent foramen ovale was encountered in 32% of the patients, and in combination with atrial septal aneurysm in an additional 11.3% of cases. Atrial septal aneurysm and atrial septal defect were diagnosed with equal frequency in 20.7% of our study population. Impulse conduction disorders were significantly more suggestive of interatrial septal anomalies than clinical signs and symptoms observed in our patients (84.91% vs 30.19%, P=0.002). Right bundle branch block was the most frequent impulse conduction disorder, found in 41 (77.36%) cases. We conclude that interatrial septal anomalies are highly associated with impulse conduction disorders, particularly with right bundle branch block. Impulse conduction disorders are more indicative of interatrial septal abnormalities in earlier stages than can be understood from the patient’s clinical condition. PMID:21977304

  9. Association of interatrial septal abnormalities with cardiac impulse conduction disorders in adult patients: experience from a tertiary center in Kosovo.

    Science.gov (United States)

    Bakalli, Aurora; Pllana, Ejup; Koçinaj, Dardan; Bekteshi, Tefik; Dragusha, Gani; Gashi, Masar; Musliu, Nebih; Gashi, Zaim

    2011-01-01

    INTERATRIAL SEPTAL DISORDERS, WHICH INCLUDE: atrial septal defect, patent foramen ovale and atrial septal aneurysm, are frequent congenital anomalies found in adult patients. Early detection of these anomalies is important to prevent their hemodynamic and/or thromboembolic consequences. The aims of this study were: to assess the association between impulse conduction disorders and anomalies of interatrial septum; to determine the prevalence of different types of interatrial septum abnormalities; to assess anatomic, hemodynamic, and clinical consequences of interatrial septal pathologies. Fifty-three adult patients with impulse conduction disorders and patients without ECG changes but with signs of interatrial septal abnormalities, who were referred to our center for echocardiography, were included in a prospective transesophageal echocardiography study. Interatrial septal anomalies were detected in around 85% of the examined patients. Patent foramen ovale was encountered in 32% of the patients, and in combination with atrial septal aneurysm in an additional 11.3% of cases. Atrial septal aneurysm and atrial septal defect were diagnosed with equal frequency in 20.7% of our study population. Impulse conduction disorders were significantly more suggestive of interatrial septal anomalies than clinical signs and symptoms observed in our patients (84.91% vs 30.19%, P=0.002). Right bundle branch block was the most frequent impulse conduction disorder, found in 41 (77.36%) cases. We conclude that interatrial septal anomalies are highly associated with impulse conduction disorders, particularly with right bundle branch block. Impulse conduction disorders are more indicative of interatrial septal abnormalities in earlier stages than can be understood from the patient's clinical condition.

  10. GPs’ experiences of children with anxiety disorders in primary care: a qualitative study

    Science.gov (United States)

    O’Brien, Doireann; Harvey, Kate; Young, Bridget; Reardon, Tessa; Creswell, Cathy

    2017-01-01

    Background Anxiety disorders have a median age of onset of 11 years and are the most common emotional disorders in childhood; however, a significant proportion of those affected do not access professional support. In the UK, GPs are often the first medical professional that families see so are in a prime position to support children with anxiety disorders; however, currently there is little research available on GPs’ perspectives on and experiences of supporting children with these disorders. Aim To explore the experiences of GPs in relation to identification, management, and access to specialist services for children (Design and setting Twenty semi-structured interviews were conducted with GPs in primary care throughout England. Method GPs reflected a diverse group in relation to the ethnic and socioeconomic profile of registered patients, GP age, sex, professional status, previous engagement with research, and practice size and location. Purposive sampling was used to recruit GPs until theoretical saturation was reached. Data were analysed using a constant comparative method of thematic analysis. Results Data from 20 semi-structured interviews were organised into three themes: decision making, responsibility, and emotional response, with an overarching theme of GPs feeling ill equipped. These themes were retrospectively analysed to illustrate their role at different stages in the primary care process (identification, management, and access to specialist services). Conclusion GPs feel ill equipped to manage and support childhood anxiety disorders, demonstrating a need for medical training to include greater emphasis on children’s mental health, as well as potential for greater collaboration between primary and specialist services. PMID:29061716

  11. Body Experience and Mirror Behaviour in Female Eating Disorders Patients and non Clinical Subjects

    Directory of Open Access Journals (Sweden)

    Michel Probst

    2008-12-01

    Full Text Available Recently the attention for mirror exercises in therapies targeted specifically to body experience concerns has increased. This retrospective study will explore the mirror behaviour of anorexia nervosa (AN, bulimia nervosa (BN and non-clinical female subjects (CG and investigate whether mirror avoidance or checking are related to negative body experiences.The group of eating disorders consisted of 560 AN and 314 BN patients. The control group consisted of 1151 female subjects. The Body Attitude Test and the Eating Disorder Inventory subscales drive for thinness and body dissatisfaction were used. To explore the mirror behaviour, one item of the Body Attitude Test ‘I am observing my appearance in the mirror’ was used. Nonparametric analyses (Spearman rho correlations, Kruskal-Wallis and Mann Whitney test were used because of the categorical data.BN patients observed their body more often in the mirror than AN patients and the control subjects do. Age and BMI showed no significant main effect of mirror frequency. The relation between the frequency of mirror behaviour and body experience were significant but low (under .40. AN patients and control subjects with a mirror checking behaviour had a more negative body experience than those with mirror avoidance behaviour. In the BN group, no differences were found.There is support to integrate mirror exercises in a treatment of eating disorder patients. From a clinical point, mirror exercises are preferably combined with a body oriented therapy within a multidimensional cognitive behavioural approach. Recommendations for mirror exercises based on the clinical experience are given.

  12. [Group psychoeducation in the complex treatment of bipolar disorder--Cracow experiences].

    Science.gov (United States)

    Maczka, Grzegorz; Grabski, Bartosz; Gierowski, Józef Krzysztof; Dudek, Dominika

    2010-01-01

    To share our experience in introducing an original, structured group psychoeducational programme entitled "Familiarizing bipolar disorder" into the integrated complex treatment of bipolar disorder (BP). The programme is partially based on the Barcelona Bipolar Disorders Program format and represents our proposal of a short, easily applied group psychoeducation. It consists of 8 meetings, conducted by a psychiatrist and a psychologist who are both trained in cognitive-behavioural therapy. Two groups of patients accomplished the programme so far. We would like to present our conclusions and qualitative observations. The patients noticed a change in a philosophical view on the bipolar disorder treatment (access to information, partnership between a doctor and a patient, appreciation of psychological aspects of bipolar illness), which is embodied by the psychoeducational approach. They welcomed our programme with enthusiasm and interest. Many questions were asked about different aspects of bipolar disorder, especially concerning pharmacotherapy, genetic and legal issues. Our participants assessed the number of sessions as optimal, but some of them insisted on devoting one more meeting to interactively discuss pharmacotherapy of BP. The programme revealed many other relevant issues concerning patients' attitudes toward bipolar disorder like: common presence of dysfunctional beliefs patients hold regarding their illness, unawareness of importance of mood stabilizer serum level examination, insufficient knowledge on hypomania or--in some cases--ignorance of a hypomania phenomenon. Moreover, patients appreciated the fact that the psychoeducational programme helped them to diminish the sense of stigma, shame, and the feeling of being different or worse. Finally we are amazingly impressed by the unsatisfied need existing in bipolar patients to share their fears, emotions and to be fully informed. Our observations support the statement, that the psychoeducational approach to

  13. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...

  14. A global quantitative survey of hemostatic assessment in postpartum hemorrhage and experience with associated bleeding disorders

    Directory of Open Access Journals (Sweden)

    James AH

    2017-07-01

    Full Text Available Andra H James,1 David L Cooper,2 Michael J Paidas3 1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Duke University, Durham, NC, 2Clinical, Medical and Regulatory Affairs, Novo Nordisk Inc., Plainsboro, NJ, 3Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale Women and Children’s Center for Blood Disorders and Preeclampsia Advancement, Yale University, New Haven, CT, USA Purpose: Coagulopathy may be a serious complicating or contributing factor to postpartum hemorrhage (PPH, and should be promptly recognized to ensure proper bleeding management. This study aims to evaluate the approaches of obstetrician-gynecologists worldwide towards assessing massive PPH caused by underlying bleeding disorders. Methods: A quantitative survey was completed by 302 obstetrician-gynecologists from 6 countries (the UK, France, Germany, Italy, Spain, and Japan. The survey included questions on the use of hematologic laboratory studies, interpretation of results, laboratory’s role in coagulation assessments, and experience with bleeding disorders. Results: Overall, the most common definitions of “massive” PPH were >2,000 mL (39% and >1,500 mL (34% blood loss. The most common criteria for rechecking a “stat” complete blood count and for performing coagulation studies were a drop in blood pressure (73% and ongoing visible bleeding (78%, respectively. Laboratory coagulation (prothrombin time/activated partial thromboplastin time [PT/aPTT] and factor VIII/IX assays were performed on-site more often than were mixing studies (laboratory coagulation studies, 93%; factor VIII/IX assays, 63%; mixing studies, 22%. Most commonly consulted sources of additional information were colleagues within one’s own specialty (68% and other specialists (67%. Most respondents had consulted with a hematologist (78%; least, Germany [56%]; greatest, UK [98%]. The most common reason for not consulting was hematologist

  15. Cytogenomic Aberrations in Congenital Cardiovascular Malformations.

    Science.gov (United States)

    Azamian, Mahshid; Lalani, Seema R

    2016-05-01

    Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades.

  16. Preliminary study: Taiwanese mothers' experiences of children with sensory processing disorder.

    Science.gov (United States)

    Chiu, En-Chi

    2013-09-01

    Different cultural backgrounds and parental experiences influence parenting styles and approaches to raising children with disabilities. Family-centered care should consider parental, especially main caregivers, experiences with their disabled children. In Taiwan, in most of homes, mothers are the main caregivers. The purpose of this study was to explore Taiwanese mothers' experiences with their children who have sensory processing disorder. This study used a qualitative ethnographic design and semistructured interview format. Transcripts were analyzed and synthesized into themes. Three mothers were interviewed. The following three themes emerged: (a) relationships within the shared worlds of disability and culture, (b) daily life challenges and expectations, and (c) opportunity to receive professional services. These Taiwanese mothers expressed that they experienced stress from being blamed for insufficient skills and from the shame of their children's disabilities that reflected lack of teacher, friend, and other family members' understanding of the cause of their children's inappropriate behaviors. Their children experienced difficulties performing daily activities, which resulted in stresses on both the mother and her child. The interviewed mothers needed to receive timely, long-term services from healthcare professionals. However, hospitals are inadequately staffed with occupational therapists, which delays care for children with special needs. Taiwanese mothers experience stresses from themselves, their child, and others. Healthcare professionals should apply a family-centered service approach to fulfill the needs of mothers and their disabled children. Moreover, healthcare professionals should promote greater awareness of sensory processing disorder symptoms and interventions to increase public awareness and acceptance of these children.

  17. "Is it menopause or bipolar?": a qualitative study of the experience of menopause for women with bipolar disorder.

    Science.gov (United States)

    Perich, Tania; Ussher, Jane; Parton, Chloe

    2017-11-16

    Menopause can be a time of change for women and may be marked by disturbances in mood. For women living with a mental illness, such as bipolar disorder, little is known about how they experience mood changes during menopause. This study aimed to explore how women with bipolar disorder constructed mood changes during menopause and how this impacted on treatment decisions. Semi-structured interviews were undertaken with fifteen women who reported they had been diagnosed with bipolar disorder. Data was analysed using thematic analysis guided by a social constructionist framework. Themes identified included 'Constructions of mood change: menopause or bipolar disorder?',' Life events, bipolar disorder and menopause coming together'; 'Treatment choices for mood change during menopause'. The accounts suggested that women related to the experience of mood changes during menopause through the lens of their existing framework of bipolar disorder, with implications for understanding of self and treatment choices.

  18. Dissociation in eating disorders: relationship between dissociative experiences and binge-eating episodes.

    Science.gov (United States)

    La Mela, Carmelo; Maglietta, Marzio; Castellini, Giovanni; Amoroso, Luca; Lucarelli, Stefano

    2010-01-01

    Several findings support the hypothesis that there is a relationship between dissociation and eating disorders (EDs). The aims of this study were as follows: (1) to assess whether ED patients show a higher level of dissociation than healthy control (HC) individuals or psychiatric control patients with anxiety and mood disorders and (2) to investigate the effects of dissociation on ED symptoms, specifically binge eating behavior. Fifty-four ED patients, 56 anxiety and mood disorders control patients, and 39 HC individuals completed the Eating Disorder Examination Questionnaire and the Dissociation Questionnaire. Each participant was asked about the number of binge eating episodes he or she had experienced in the past 4 weeks. The ED patients had higher levels of dissociation than both the psychiatric control group and the HC group. In the ED group, the number of binge episodes was related to the level of dissociation. Dissociative experiences are relevant in EDs, and binge eating is related to dissociation. In patients affected by the core psychopathologic beliefs of EDs (overevaluation of shape and weight), dissociation may allow an individual to initiate binging behavior, thus decreasing self-awareness and negative emotional states, without having to deal with the long-term consequences of their actions. Copyright 2010 Elsevier Inc. All rights reserved.

  19. Childhood experiences of parental rearing patterns reported by Chinese patients with borderline personality disorder.

    Science.gov (United States)

    Huang, Jianjun; Napolitano, Lisa A; Wu, Jiang; Yang, Yunping; Xi, Yingjun; Li, Yawen; Li, Kai

    2014-02-01

    The primary purposes of this study were to (1) compare the characteristics of childhood experiences of parental rearing patterns in China reported by patients with borderline personality disorder (BPD), patients with other personality disorders and patients without personality disorders; (2) identify the reported parental rearing patterns associated with BPD in China; and (3) determine whether these patterns differ for males and females. One hundred and fifty-two patients with BPD, 79 patients with other personality disorders and 55 patients without Axis II diagnoses were administered the Chinese version of the McLean Screening Instrument for BPD and completed the Egna Minnen av Barndoms Uppfostran (EMBU), a self-report measure of childhood parental rearing patterns. Parental rearing patterns reported by the BPD group were characterized by less emotional warmth, and greater punishment, rejection and control than patterns reported by the other two groups. Within the BPD group, males were more likely than females to report parental punishment, rejection and control. Paternal punishment, low maternal emotional warmth and female gender predicted BPD diagnosis. Negative parental rearing patterns appear to contribute to the development of BPD in China and vary with the gender of the child. Maternal emotional warmth may be a protective factor against BPD. © 2013 International Union of Psychological Science.

  20. Statistical learning of speech, not music, in congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Saffran, Jenny; Schön, Daniele; Gosselin, Nathalie

    2012-04-01

    The acquisition of both speech and music uses general principles: learners extract statistical regularities present in the environment. Yet, individuals who suffer from congenital amusia (commonly called tone-deafness) have experienced lifelong difficulties in acquiring basic musical skills, while their language abilities appear essentially intact. One possible account for this dissociation between music and speech is that amusics lack normal experience with music. If given appropriate exposure, amusics might be able to acquire basic musical abilities. To test this possibility, a group of 11 adults with congenital amusia, and their matched controls, were exposed to a continuous stream of syllables or tones for 21-minute. Their task was to try to identify three-syllable nonsense words or three-tone motifs having an identical statistical structure. The results of five experiments show that amusics can learn novel words as easily as controls, whereas they systematically fail on musical materials. Thus, inappropriate musical exposure cannot fully account for the musical disorder. Implications of the results for the domain specificity of statistical learning are discussed. © 2012 New York Academy of Sciences.

  1. Working in dissonance: experiences of work instability in workers with common mental disorders.

    Science.gov (United States)

    Danielsson, Louise; Bertilsson, Monica; Holmgren, Kristina; Hensing, Gunnel

    2017-05-18

    Common mental disorders have a negative impact on work functioning, but less is known about the process when the functioning starts to destabilize. This study explores experiences of work instability in workers with common mental disorders. A grounded theory study using a theoretical sampling frame, individual in-depth interviews and a constant comparative analysis conducted by a multidisciplinary research team. The sample involved 27 workers with common mental disorders, currently working full or part time, or being on sick leave not more than 6 months. They were women and men of different ages, representing different occupations and illness severity. A general process of work instability was conceptualized by the core category Working in dissonance: captured in a bubble inside the work stream. The workers described that their ordinary fluency at work was disturbed. They distanced themselves from other people at and outside work, which helped them to regain their flow but simultaneously made them feel isolated. Four categories described sub-processes of the dissonance: Working out of rhythm, Working in discomfort, Working disconnected and Working in a no man's land. The experience of work instability in CMDs was conceptualized as "working in dissonance", suggesting a multifaceted dissonance at work, characterized by a sense of being caught up, as if in a bubble. Focusing on how the worker can re-enter their flow at work when experiencing dissonance is a new approach to explore in occupational and clinical settings.

  2. Performance of steroid eluting bipolar epicardial leads in pediatric and congenital heart disease patients: 15 years of single center experience.

    Science.gov (United States)

    Paech, Christian; Kostelka, Martin; Dähnert, Ingo; Flosdorff, Patrick; Riede, Frank Thomas; Gebauer, Roman Antonin

    2014-05-12

    Cardiac pacing is sometimes required for patients with congenital heart disease for various reasons. Because of complex anatomy, repetitive previous heart surgery and patient size, epicardial leads are of special importance in these patients. Using epicardial leads has been discussed controversly regarding pacing performance and lead survival. The aim of this study was to review the long-term data on pacing performance as well as lead survival of epicardial leads implanted in our center. Retrospective chart review and review of the literature. 82 consecutive pediatric patients or adult patients with congenital heart disease with 158 epicardial leads (Medtronic 4968, bipolar, steroid - eluting) were included. We found 1.2% pacemaker-related early postoperative complications. The incidence of lead dysfunction was 7.5% (12/158) for primary (i.e. directly related to the lead itself) lead dysfunction and 3.2% (5/158) of lead abandonment for reasons not directly related to the lead itself. Primary lead dysfunction occured after a median of 3.83 years. Lead survival at 2, 5 and 10 years was 98.7%, 93% and 92.4%. There were no infections reported. Stable median measurements for impedance (RA/RV/LV of 577/483/610 Ohm), sensing threshold (RA/RV/LV of 2.0/11.0/10.0 mV) and pacing threshold (RA/RV/LV of 0.75 V at 0.4 ms/1.0 V at 0.49 ms/1.0 V at 0.45 ms) indicated a good mid- to longterm performance. The only risk factor for primary lead dysfunction was young age at implantation. The use of epicardial leads in pediatric and adult patients with congenital heart disease shows good longterm outcomes in terms of pacing performance and lead survival. The authors encourage using epicardial leads in patients with congenital heart disease based on the patient's individual characteristics.

  3. Continuing education in neurometabolic disorders--serine deficiency disorders

    NARCIS (Netherlands)

    de Koning, T. J.; Poll-The, B. T.; Jaeken, J.

    1999-01-01

    Serine deficiency disorders comprise a new group of inborn errors of serine metabolism. Patients affected with these disorders present with major neurological symptoms including congenital microcephaly, seizures, psychomotor retardation or polyneuropathy. The diagnosis of serine deficiency is based

  4. Physiological Basis for the Etiology, Diagnosis, and Treatment of Adrenal Disorders: Cushing’s Syndrome, Adrenal Insufficiency, and Congenital Adrenal Hyperplasia

    Science.gov (United States)

    Raff, Hershel; Sharma, Susmeeta T.; Nieman, Lynnette K.

    2014-01-01

    The hypothalamic-pituitary-adrenal (HPA) axis is a classic neuroendocrine system. One of the best ways to understand the HPA axis is to appreciate its dynamics in the variety of diseases and syndromes that affect it. Excess glucocorticoid activity can be due to endogenous cortisol overproduction (spontaneous Cushing’s syndrome) or exogenous glucocorticoid therapy (iatrogenic Cushing’s syndrome). Endogenous Cushing’s syndrome can be subdivided into ACTH-dependent and ACTH-independent, the latter of which is usually due to autonomous adrenal overproduction. The former can be due to a pituitary corticotroph tumor (usually benign) or ectopic ACTH production from tumors outside the pituitary; both of these tumor types overexpress the proopiomelanocortin gene. The converse of Cushing’s syndrome is the lack of normal cortisol secretion and is usually due to adrenal destruction (primary adrenal insufficiency) or hypopituitarism (secondary adrenal insufficiency). Secondary adrenal insufficiency can also result from a rapid discontinuation of long-term, pharmacological glucocorticoid therapy because of HPA axis suppression and adrenal atrophy. Finally, mutations in the steroidogenic enzymes of the adrenal cortex can lead to congenital adrenal hyperplasia and an increase in precursor steroids, particularly androgens. When present in utero, this can lead to masculinization of a female fetus. An understanding of the dynamics of the HPA axis is necessary to master the diagnosis and differential diagnosis of pituitary-adrenal diseases. Furthermore, understanding the pathophysiology of the HPA axis gives great insight into its normal control. PMID:24715566

  5. The Experience of Participation in Suicide Research From the Perspective of Individuals With Bipolar Disorder.

    Science.gov (United States)

    Owen, Rebecca; Gooding, Patricia; Dempsey, Robert; Jones, Steven

    2016-11-01

    Reasons underlying the elevated prevalence of suicide in bipolar disorder remain underresearched and poorly understood. Participation in suicide-focused research may pose a risk to vulnerable groups, such as those with bipolar disorder. Participants were asked to provide feedback about their experience of participating in a suicide-focused qualitative research interview. The data set was analyzed using inductive thematic analysis. Qualitative themes were (1) talking about suicide was not distressing, (2) negative interview expectations, (3) personal benefits, (4) value of suicide research, (5) interview advice, and (6) talking about suicide was difficult. Suicide-focused research can be conducted with minimal participant distress. Sufficient procedures must be in place, both to identify those at risk of experiencing distress and to efficiently deal with any distress that might occur.

  6. The caries experience and behavior of dental patients with autism spectrum disorder.

    Science.gov (United States)

    Loo, Cheen Y; Graham, Richard M; Hughes, Christopher V

    2008-11-01

    Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder. The authors conducted a study to evaluate the demographics, caries experience and behavior of patients with ASD and compare these characteristics with those of patients without ASD (unaffected patients). The authors reviewed patients' charts and identified a group of 395 patients with ASD and a group of 386 unaffected patients. They obtained the following patient data for analysis: primary diagnosis, age, sex, residence (home versus institution or group home), presence of seizure disorder, additional diagnosis (mental retardation, cerebral palsy, self-injurious behavior or pica), medications, caries prevalence, caries severity and behavior. The ASD group had a male:female ratio of 4:1, and patients had a diagnosis of autism, pervasive developmental disorder-not otherwise specified or Asperger syndrome. Sex distribution was equal in the unaffected group, which was younger and had a higher decayed, missing and filled teeth (DMFT) score than did the ASD group. When the authors controlled for age and sex, they noted a statistically significant association between ASD and dental caries prevalence. A significantly higher percentage of patients with ASD than unaffected patients were uncooperative and required dental treatment to take place under general anesthesia. Caries prevalence and severity in patients with ASD were not associated with institutionalization, presence of seizure disorder or additional diagnosis. People with ASD were more likely to be caries-free and had lower DMFT scores than did their unaffected peers. Significantly more patients with ASD than unaffected patients were uncooperative and required general anesthesia to undergo dental treatment.

  7. Congenital amusia (or tone-deafness interferes with pitch processing in tone languages

    Directory of Open Access Journals (Sweden)

    Barbara eTillmann

    2011-06-01

    Full Text Available Congenital amusia is a neurogenetic disorder that affects music processing and that is ascribed to a deficit in pitch processing. We investigated whether this deficit extended to pitch processing in speech, notably the pitch changes used to contrast lexical tones in tonal languages. Congenital amusics and matched controls, all non-tonal language speakers, were tested for lexical tone discrimination in Mandarin Chinese (Experiment 1 and in Thai (Experiment 2. Tones were presented in pairs and participants were required to make same/different judgments. Experiment 2 additionally included musical analogs of Thai tones for comparison. Performance of congenital amusics was inferior to that of controls for all materials, suggesting a domain-general pitch-processing deficit. The pitch deficit of amusia is thus not limited to music, but may compromise the ability to process and learn tonal languages. Combined with acoustic analyses of the tone material, the present findings provide new insights into the nature of the pitch-processing deficit exhibited by amusics.

  8. Formulating a return-to-work decision for employees with major depressive disorders: occupational therapists' experiences.

    Science.gov (United States)

    Ramano, Enos; Buys, Tania; De Beer, Marianne

    2016-04-20

    Major depressive disorder (MDD) is worldwide one of the most concerning health problems as it is associated with reduced work productivity and permanent disability. Occupational therapists are often called upon to make a return-to-work decision on employees with MDD in order to facilitate continued employment. Sustaining employment is in alignment with achieving the Millennium Development Goal 1: Eradicating extreme poverty, as it is known that people suffering from mental health disorders are frequently denied employment opportunities leading to reduced financial resources and therefore possible poverty. This study described occupational therapists' experiences of formulating a return-to workdecision on employees with MDD. It formed part of a larger study. Occupational therapists working in vocational rehabilitation or mental health in South Africa with a postgraduate qualification in vocational rehabilitation or mental health participated in the study. A qualitative research design was used. Two separate focus groups explored 11 occupational therapists' experiences of formulating a return-to-work decision on employees with MDD. Ethics clearance number: S34/2007. Seven themes emerged, which were, (1) the biographical profile of the employee, (2) point of view of employer, (3) point of view of employee, (4) point of view of occupational therapist, (5) declaring the employee as temporary incapacitated, (6) declaring the employee as permanently incapacitated and (7) employee's level of motivation. Occupational therapists ought to have sound knowledge, skill, experience and the ability to collaborate with employees and employers in formulating a return-to-work decision.

  9. Out-of-body experience in vestibular disorders - A prospective study of 210 patients with dizziness.

    Science.gov (United States)

    Lopez, Christophe; Elzière, Maya

    2017-06-08

    Out-of-body experiences (OBEs) are states during which people experience their centre of awareness as located outside of their physical body, along with the sensation of seeing the environment from an elevated viewpoint. OBE is encountered in epilepsy, migraine and depersonalization, and it is not an uncommon experience in the general population. Current neuroscientific models of bodily self-consciousness consider that OBE are related to a failure to integrate visual, somatosensory and vestibular signals. These models have highlighted the importance of visual-vestibular mismatch in OBE. Case reports from older clinical literature suggest that vestibular disorders may precipitate OBE, but we were lacking population-based evidence that OBE is related to vestibular disorders. The present observational, prospective study describes otoneurological, neuropsychological and phenomenological correlates of OBE in the largest sample of patients with dizziness to date (n = 210) compared to a group of age- and gender-matched controls with no history of dizziness (n = 210). We show a significantly higher occurrence of OBE in patients with dizziness (14%) than in healthy participants (5%). Most of the patients experienced OBE only after they started having dizziness for the first time. OBE in patients with dizziness were mainly related to peripheral vestibular disorders. We also identify depersonalization-derealization, depression and anxiety as the main predictors of OBE in patients with dizziness, as well as a contribution of migraine. Depersonalization-derealization was the only significant predictor of OBE in healthy controls. Altogether, our data indicate that OBE in patients with dizziness may arise from a combination of perceptual incoherence evoked by the vestibular dysfunction with psychological factors (depersonalization-derealization, depression and anxiety) and neurological factors (migraine). Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Birth order and memories of traumatic and family experiences in Greek patients with borderline personality disorder versus patients with other personality disorders.

    Science.gov (United States)

    Karamanolaki, Hara; Spyropoulou, Areti C; Iliadou, Aggeliki; Vousoura, Eleni; Vondikaki, Stamatia; Pantazis, Nikos; Vaslamatzis, Grigoris

    2016-01-01

    The purpose of this study was to assess the possible effect of recalled traumatic experiences, perceived parental rearing styles, and family parameters on the occurrence of borderline personality disorder (BPD) versus other personality disorders (other-PDs). A total of 88 adult outpatients with personality disorders completed the Traumatic Antecedents Questionnaire and the Egna Minnen av Barndoms Uppfostran, which measures perceptions regarding parental rearing. Results indicated that incidence of traumatic childhood experiences was higher among those in the BPD group compared to those in the other-PD group. Firstborns were less likely to carry a diagnosis of BPD over other-PDs. Also, significantly more BPD compared to other-PD patients reported being the father's favorite child over siblings. Results suggest that traumatic experiences, birth order, and family interactions in the presence of siblings seem to differentially affect the formation of borderline diagnosis compared to other-PDs. Limitations and clinical implications of the study are discussed in detail.

  11. Congenital hypothyroidism of dogs and cats: a review.

    Science.gov (United States)

    Bojanic, K; Acke, E; Jones, B R

    2011-05-01

    Congenital hypothyroidism is a rare and underdiagnosed congenital endocrine disorder in dogs and cats and the true incidence is unknown. The disorder may cause a range of clinical signs depending on the primary defect, which affect production of thyroid hormones; some cases present when adult. Hallmark clinical signs of congenital hypothyroidism are mental impairment and skeletal developmental abnormalities, resulting in disproportionate dwarfism; goitre may or may not be present. Documented causes of congenital hypothyroidism in dogs include deficiency of, or unresponsiveness to, thyrotropin-releasing hormone (TRH) or thyroid-stimulating hormone (TSH), thyroid dysgenesis, dyshormonogenesis and iodine deficiency. In cats, TSH unresponsiveness, thyroid dysgenesis, dyshormonogenesis and iodine deficiency have been confirmed. Adequate replacement therapy results in a successful outcome in the majority of cases, especially when started early in life, as permanent developmental abnormalities can be prevented. This review describes reported cases in dogs and cats, diagnostic investigation, and recommendations for treatment.

  12. Familial congenital glaucoma and epilepsy: a case series. | Alhaji ...

    African Journals Online (AJOL)

    We present two siblings from consanguineous marriage, both with congenital glaucoma and seizure disorders with progressive visual impairment and blindness. The pedigree showed that five (one male and four females) of the eleven siblings have varied degrees of visual impairment to blindness with seizure disorders.

  13. Congenital Ichthyosis in a Nigerian preterm neonate: A case report ...

    African Journals Online (AJOL)

    2016-01-12

    Jan 12, 2016 ... stringent thermoregulation, optimal hydration, use of topical emollient and antibiotics. Although, the skin disorder resolved within fifteen days of ... anicteric, acrocyanosed, cold (35.9oc) but not. Introduction. Congenital Ichthyoses are a rare heterogenous group of skin disorders characterized by excessive ...

  14. [Congenital dislocation of the knee: report of 2 cases].

    Science.gov (United States)

    Ochoa Gómez, L; Sánchez Gimeno, J; García Barrecheguren, E; Marulanda Del Valle, K; Almonte Adón, K; Guerrero Laleona, C

    2015-01-01

    Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  15. Congenital sideroblastic anemia: a report of two cases.

    Science.gov (United States)

    Gupta, Sanjeev Kumar; Rao, Seema; Kar, Rakhee; Tyagi, Seema; Pati, Hara Prasad

    2009-01-01

    Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe two cases of congenital sideroblastic anemia, one of them indicating an autosomal recessive inheritance, with their clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.

  16. Experiences of Dental Care and Dental Anxiety in Adults with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    My Blomqvist

    2014-01-01

    Full Text Available Dental anxiety is associated with previous distressing dental experiences, such as lack of understanding of the dentist intentions, perceptions of uncontrollability and experiences of pain during dental treatment. People with autism spectrum disorder (ASD are impaired in building flexible predictions and expectations, which is very much needed during a dental visit. The aims of the study were to investigate if people with ASD have more negative dental experiences and a higher level of dental anxiety compared to a matched control group. Forty-seven adults with ASD and of normal intellectual performance, and 69 age- and sex-matched typically developing controls completed questionnaires on previous dental experiences and dental anxiety, the Dental Anxiety Scale, and the Dental Beliefs Survey. The ASD group experienced pain during dental treatments more often than the controls and 22% had repeatedly experienced being forced to dental treatment they were not prepared for, compared to 3% of the controls. A higher level of dental anxiety was reported by the ASD group. Dental treatment and methods for supporting the communication with patients with ASD need to be developed, in order to reduce the negative dental experiences and dental anxiety in people with ASD.

  17. Experiences of Dental Care and Dental Anxiety in Adults with Autism Spectrum Disorder

    Science.gov (United States)

    Dahllöf, Göran; Bejerot, Susanne

    2014-01-01

    Dental anxiety is associated with previous distressing dental experiences, such as lack of understanding of the dentist intentions, perceptions of uncontrollability and experiences of pain during dental treatment. People with autism spectrum disorder (ASD) are impaired in building flexible predictions and expectations, which is very much needed during a dental visit. The aims of the study were to investigate if people with ASD have more negative dental experiences and a higher level of dental anxiety compared to a matched control group. Forty-seven adults with ASD and of normal intellectual performance, and 69 age- and sex-matched typically developing controls completed questionnaires on previous dental experiences and dental anxiety, the Dental Anxiety Scale, and the Dental Beliefs Survey. The ASD group experienced pain during dental treatments more often than the controls and 22% had repeatedly experienced being forced to dental treatment they were not prepared for, compared to 3% of the controls. A higher level of dental anxiety was reported by the ASD group. Dental treatment and methods for supporting the communication with patients with ASD need to be developed, in order to reduce the negative dental experiences and dental anxiety in people with ASD. PMID:25530879

  18. Discriminatory experiences associated with posttraumatic stress disorder symptoms among transgender adults

    Science.gov (United States)

    Reisner, Sari L.; White Hughto, Jaclyn M.; Gamarel, Kristi E.; Keuroghlian, Alex S.; Mizock, Lauren; Pachankis, John

    2016-01-01

    Discrimination has been shown to disproportionately burden transgender people; however, there has been a lack of clinical attention to the mental health sequelae of discrimination, including posttraumatic stress disorder (PTSD) symptoms. Additionally, few studies contextualize discrimination alongside other traumatic stressors in predicting PTSD symptomatology. The current study sought to fill these gaps. A community-based sample of 412 transgender adults (mean age 33, SD=13; 63% female-to-male spectrum; 19% people of color; 88% sampled online) completed a cross-sectional self-report survey of everyday discrimination experiences and PTSD symptoms. Multivariable linear regression models examined the association between self-reported everyday discrimination experiences, number of attributed domains of discrimination, and PTSD symptoms, adjusting for prior trauma, sociodemographics, and psychosocial co-morbidity. The mean number of discrimination attributions endorsed was 4.8 (SD=2.4) and the five most frequently reported reasons for discrimination were: gender identity and/or expression (83%), masculine and feminine appearance (79%), sexual orientation (68%), sex (57%), and age (44%). Higher everyday discrimination scores (β=0.25; 95% CL=0.21–0.30) and greater number of attributed reasons for discrimination experiences (β=0.05; 95% CL=0.01–0.10) were independently associated with PTSD symptoms, even after adjusting for prior trauma experiences. Everyday discrimination experiences from multiple sources necessitate clinical consideration in treatment for PTSD symptoms in transgender people. PMID:26866637

  19. Pregnancy in a Woman With Congenital Generalized Lipodystrophy

    Science.gov (United States)

    Maguire, Marcy; Lungu, Andrea; Gorden, Phillip; Cochran, Elaine; Stratton, Pamela

    2012-01-01

    BACKGROUND Congenital generalized lipodystrophy is a rare disorder characterized by scant adipose tissue, profound leptin deficiency, and severe insulin resistance, resulting in multiple metabolic derangements, including hyperandrogenism, anovulation, and impaired fecundity. CASE A young woman with congenital generalized lipodystrophy receiving leptin therapy experienced menarche, conceived spontaneously, and delivered a liveborn male neonate. CONCLUSION Adipose tissue is important to normal female reproductive function. Leptin in particular appears to play a key role in adipose-mediated regulation of fertility. PMID:22270436

  20. Probing the Action of Chemical Denaturant on an Intrinsically Disordered Protein by Simulation and Experiment.

    Science.gov (United States)

    Zheng, Wenwei; Borgia, Alessandro; Buholzer, Karin; Grishaev, Alexander; Schuler, Benjamin; Best, Robert B

    2016-09-14

    Chemical denaturants are the most commonly used agents for unfolding proteins and are thought to act by better solvating the unfolded state. Improved solvation is expected to lead to an expansion of unfolded chains with increasing denaturant concentration, providing a sensitive probe of the denaturant action. However, experiments have so far yielded qualitatively different results concerning the effects of chemical denaturation. Studies using Förster resonance energy transfer (FRET) and other methods found an increase in radius of gyration with denaturant concentration, but most small-angle X-ray scattering (SAXS) studies found no change. This discrepancy therefore challenges our understanding of denaturation mechanism and more generally the accuracy of these experiments as applied to unfolded or disordered proteins. Here, we use all-atom molecular simulations to investigate the effect of urea and guanidinium chloride on the structure of the intrinsically disordered protein ACTR, which can be studied by experiment over a wide range of denaturant concentration. Using unbiased molecular simulations with a carefully calibrated denaturant model, we find that the protein chain indeed swells with increasing denaturant concentration. This is due to the favorable association of urea or guanidinium chloride with the backbone of all residues and with the side-chains of almost all residues, with denaturant-water transfer free energies inferred from this association in reasonable accord with experimental estimates. Interactions of the denaturants with the backbone are dominated by hydrogen bonding, while interactions with side-chains include other contributions. By computing FRET efficiencies and SAXS intensities at each denaturant concentration, we show that the simulation trajectories are in accord with both experiments on this protein, demonstrating that there is no fundamental inconsistency between the two types of experiment. Agreement with experiment also supports the

  1. Caregiving Experiences of Latino Families With Children With Autism Spectrum Disorder.

    Science.gov (United States)

    Blanche, Erna Imperatore; Diaz, Jesus; Barretto, Tanya; Cermak, Sharon A

    2015-01-01

    Prior research has documented caregiving difficulties in families of children with autism spectrum disorder (ASD). However, Latino families may encounter unique challenges. The purpose of this study was to understand the caregiving experiences of Latino families with children with ASD, including daily activities, coping strategies, and service utilization. Fifteen Latino parents of children with ASD were interviewed. The interviews were transcribed for analysis to identify themes of experiences unique to this population. Latino families of children with ASD encounter many similar issues as non-Latino families but also unique issues that affect service utilization. Four themes were identified: dealing with the diagnosis, dealing with stigma and isolation from family and community, understanding the role of mothers in changing family routines, and utilizing services. To meet the unique needs of Latino families, services need to be provided in culturally sensitive context that address children's needs within family units. Copyright © 2015 by the American Occupational Therapy Association, Inc.

  2. Experience-Induced Change of Alcohol-Related Risk Perception in Patients with Alcohol Use Disorders.

    Science.gov (United States)

    Klepper, Sarah; Odenwald, Michael; Rösner, Susanne; Senn, Smeralda; Menning, Hans; Pereyra-Kröll, Devi; Rockstroh, Brigitte

    2017-01-01

    The role of alcohol-related risk perception for effective treatment of alcohol use disorders (AUD) is still unclear. The present study on 101 alcohol-dependent patients undergoing a 10-week AUD treatment protocol investigated the relationship between alcohol-related risk perception and alcohol use with the hypotheses that (1) risk perception changes across treatment, (2) changes vary with treatment-related experiences of abstinence/relapse indicating 'risk reappraisal,' and (3) adjustment of perceived own vulnerability according to 'risk reappraisal hypothesis' predicts abstinence during follow-up. Abstinence during treatment was related to a decrease, and relapse during treatment to a slight increase in perceived own risks. Abstinence during the 3-month follow-up varied with experience-induced risk reappraisal. The results show an impact of risk reappraisal on alcohol use and hence advocate a focus on risk reappraisal in AUD treatment.

  3. Borderline personality disorder and self-conscious emotions in response to adult unwanted sexual experiences.

    Science.gov (United States)

    Schoenleber, Michelle; Gratz, Kim L; Messman-Moore, Terri; DiLillo, David

    2014-12-01

    Borderline personality disorder (BPD) is associated with a proneness to unpleasant self-conscious emotions (SCE). Given that BPD is also associated with heightened rates of SCE-eliciting events (including unwanted sexual experiences), research examining the factors influencing SCE in response to these events is needed. This study examined associations between BPD pathology and SCE in response to adult unwanted sexual experiences among 303 community women. Extent of sharing about and perceived personal responsibility for the event were examined as moderators of the association between BPD and current event-related SCE. Both self-reported BPD symptom severity in the full sample and interview-based measures of BPD symptom count and diagnosis in a subsample (n = 75) were associated with greater SCE at the event and currently. Moreover, in the subsample, both BPD symptom count and diagnosis were associated with heightened current SCE only when (a) extent of sharing was low or (b) perceived personal responsibility was high.

  4. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.

    Science.gov (United States)

    Fujino, Hisanori; Doisaki, Sayoko; Park, Young-Dong; Hama, Asahito; Muramatsu, Hideki; Kojima, Seiji; Sumimoto, Shinichi

    2013-05-01

    The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of genetic disorders of red cell production. They are characterized by ineffective erythropoiesis and dyserythropoiesis. Here, we present the clinical description and mutation analysis of a Japanese female with CDA type 1. She has long been diagnosed with unclassified congenital hemolytic anemia from the neonatal period. However, bone marrow morphology and genetic testing of the CDAN1 gene at the age of 12 years confirmed the afore-mentioned diagnosis. Thus, we should be aware of the possibility of CDA if the etiology of congenital anemia or jaundice cannot be clearly elucidated.

  5. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  6. Congenital Adrenal Hyperplasia

    National Research Council Canada - National Science Library

    Speiser, Phyllis W

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group...

  7. Early surgical experience of right ventricular outflow reconstruction with the RVOT Elan conduit in adults and adolescents with congenital heart disease.

    Science.gov (United States)

    Nozohoor, Shahab; Johansson, Sune; Gustafsson, Ronny

    2014-01-01

    Several types of valves and valved conduits have been developed for right ventricular outflow tract reconstruction and yet no one has provided prolonged satisfactory hemodynamic performance. The RVOT Elan is a bioprosthetic heart valve conduit constructed from a vascular graft and a porcine stentless valve indicated specifically for right ventricular outflow tract reconstruction. The present study aimed to evaluate the early clinical and hemodynamic results following implantation of the RVOT Elan in adults and adolescents with congenitally corrected right ventricular outflow tract anomalies requiring reintervention. Nineteen consecutive patients underwent right ventricular outflow reconstruction with the RVOT Elan between June 2012 and May 2013 in a nationally centralized center for surgery of patients with congenital heart disease. Pulmonic transvalvular gradients were evaluated with echocardiograms at discharge. Postoperative data on adverse clinical events were obtained from patient records. Follow-up was performed in October 2013 and was 100% complete (mean 331 ± 102, median 315 days). There were no intraoperative deaths. Survival at 30 days was 100% and there were no late deaths. The mean gradients were 14, 15, 13 mm Hg for the 21, 23, and 25 mm valve size, respectively. There were no cases of endocarditis or valve thrombosis. Freedom from reoperation for any cause was 100%. Freedom from cardiovascular adverse events was 94.4% (data 90.5% complete). The RVOT Elan demonstrates excellent early clinical and favorable hemodynamic results, with low transvalvular gradients, good flow characteristics, and a complete freedom from reoperation. Ease of implantation is evidenced by favorable ischemic times. Long-term results are awaited. © 2014 Wiley Periodicals, Inc.

  8. Striking discrepancy of anomalous body experiences with normal interoceptive accuracy in depersonalization-derealization disorder.

    Science.gov (United States)

    Michal, Matthias; Reuchlein, Bettina; Adler, Julia; Reiner, Iris; Beutel, Manfred E; Vögele, Claus; Schächinger, Hartmut; Schulz, André

    2014-01-01

    Disembodiment is a core feature of depersonalization disorder (DPD). Given the narratives of DPD patients about their disembodiment and emotional numbing and neurobiological findings of an inhibition of insular activity, DPD may be considered as a mental disorder with specific impairments of interoceptive awareness and body perception. We investigated cardioceptive accuracy (CA) of DPD patients (n=24) as compared to healthy controls (n=26) with two different heartbeat detection tasks ("Schandry heartbeat counting task" and "Whitehead heartbeat discrimination task"). Self-rated clearness of body perception was measured by questionnaire. Contrary to our hypothesis, DPD patients performed similarly to healthy controls on the two different heartbeat detection tasks, and they had equal scores regarding their self-rated clearness of body perception. There was no correlation of the severity of "anomalous body experiences" and depersonalization with measures of interoceptive accuracy. Only among healthy controls CA in the Schandry task was positively correlated with self-rated clearness of body perception. Depersonalization was unrelated to severity of depression or anxiety, while depression and anxiety were highly correlated. Anxiety and depression did not modify the associations of depersonalization with interoceptive accuracy. Our main findings highlight a striking discrepancy of normal interoception with overwhelming experiences of disembodiment in DPD. This may reflect difficulties of DPD patients to integrate their visceral and bodily perceptions into a sense of their selves. This problem may be considered an important target for psychotherapeutic treatment approaches.

  9. Striking discrepancy of anomalous body experiences with normal interoceptive accuracy in depersonalization-derealization disorder.

    Directory of Open Access Journals (Sweden)

    Matthias Michal

    Full Text Available BACKGROUND: Disembodiment is a core feature of depersonalization disorder (DPD. Given the narratives of DPD patients about their disembodiment and emotional numbing and neurobiological findings of an inhibition of insular activity, DPD may be considered as a mental disorder with specific impairments of interoceptive awareness and body perception. METHODS: We investigated cardioceptive accuracy (CA of DPD patients (n=24 as compared to healthy controls (n=26 with two different heartbeat detection tasks ("Schandry heartbeat counting task" and "Whitehead heartbeat discrimination task". Self-rated clearness of body perception was measured by questionnaire. RESULTS: Contrary to our hypothesis, DPD patients performed similarly to healthy controls on the two different heartbeat detection tasks, and they had equal scores regarding their self-rated clearness of body perception. There was no correlation of the severity of "anomalous body experiences" and depersonalization with measures of interoceptive accuracy. Only among healthy controls CA in the Schandry task was positively correlated with self-rated clearness of body perception. Depersonalization was unrelated to severity of depression or anxiety, while depression and anxiety were highly correlated. Anxiety and depression did not modify the associations of depersonalization with interoceptive accuracy. CONCLUSIONS: Our main findings highlight a striking discrepancy of normal interoception with overwhelming experiences of disembodiment in DPD. This may reflect difficulties of DPD patients to integrate their visceral and bodily perceptions into a sense of their selves. This problem may be considered an important target for psychotherapeutic treatment approaches.

  10. CONGENITAL FIBROSIS OF THE EXTRAOCULAR-MUSCLES (AUTOSOMAL-DOMINANT CONGENITAL EXTERNAL OPHTHALMOPLEGIA) - GENETIC HOMOGENEITY, LINKAGE REFINEMENT, AND PHYSICAL MAPPING ON CHROMOSOME-12

    NARCIS (Netherlands)

    ENGLE, EC; MARONDEL, [No Value; HOUTMAN, WA; DEVRIES, B; LOEWENSTEIN, A; LAZAR, M; WARD, DC; KUCHERLAPATI, R; BEGGS, AH

    1995-01-01

    Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant syndrome of congenital external ophthalmoplegia and bilateral ptosis. We previously reported linkage of this disorder in two unrelated families to an 8-cM region near the centromere of human chromosome 12. We now present

  11. Nurses' Experiences of Patients with Substance-Use Disorder in Pain: A Phenomenological Study.

    Science.gov (United States)

    Morley, Georgina; Briggs, Emma; Chumbley, Gillian

    2015-10-01

    Patients with substance-use disorder and pain are at risk of having their pain underestimated and undertreated. Unrelieved pain can exacerbate characteristics that are believed to be 'drug-seeking' and in turn, perceived drug-seeking behavior can contribute to a patient being stigmatized and labeled 'difficult'. Previous literature has indicated that negative attitudes towards patients with substance-use disorder may affect their pain management but little is known about the specific barriers. This study explored nurses' experiences of working with patients with substance-use disorder in pain, providing an in-depth insight into their perspective. Descriptive phenomenology was employed as a framework for conducting semi-structured interviews to reveal the experiences of registered nurses. A convenience sample of registered nurses from a variety of clinical backgrounds were recruited and interviewed. This rich data was analyzed according to Giorgi's five-stage approach. Participants described feelings of powerlessness and frustration due to patient non-compliance, discrepancies in patient management amongst team members and external pressures effecting pain management. Participants described characteristics believed to be common, including psychosocial factors such as complex social backgrounds or mental health issues. Nurses' education and support needs were identified. Stereotyping and stigmatism were found to potentially still exist, yet there was also a general awareness of some specific clinical issues such as opioid tolerance and opioid-induced hyperalgesia. Further emphasis is required on interprofessional education and communication to improve patient management, alongside an appreciation of patient's rights facilitated by a concordance model of care. Copyright © 2015 American Society for Pain Management Nursing. Published by Elsevier Inc. All rights reserved.

  12. Congenital cytomegalovirus infection

    OpenAIRE

    D'Oronzio, U; Arlettaz, R.; Hagmann, C.

    2015-01-01

    Clinical details of 50 infants with congenital cytomegalovirus infection identified in a prospective study are reported. The mean birthweight, gestational age, and head circumference of children with congenital cytomegalovirus infection were not significantly different from those of controls. Three (6%) had symptoms at birth--two neurological and one pneumonitis. In the first four months of life transient hepatosplenomegaly occurred in two infected children and six suffered interstitial pneum...

  13. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

  14. Giant congenital diaphragmatic hernia in an adult

    Science.gov (United States)

    2014-01-01

    Bochdalek hernia is the most common type of congenital diaphragmatic hernia. It appears frequently in infants but rarely in adults. We present the case of a 50-year-old female han patient with tremendous left-sided congenital posterolateral diaphragmatic hernia (Bochdalek hernia) who also has a pair of supernumerary breasts and pulmonary hypoplasia of the lower-left lobe. The patient had an experience of misdiagnosis and she was treated for bronchitis for one year until being admitted to our hospital. This case study emphasizes the rare presentation of Bochdalek hernia in adults and the necessity of high clinical attention to similar cases. PMID:24512974

  15. Predictors of parental physical abuse: The contribution of internalizing and externalizing disorders and childhood experiences of abuse

    Science.gov (United States)

    Medley, Amanda; Sachs-Ericsson, Natalie

    2013-01-01

    Background The deleterious effects of childhood abuse have been a focus of much research; however, the causes of parental physical abuse are less well documented. Research with clinical samples suggests that individuals who display abusive behaviors are more likely to have a history of childhood abuse and higher rates of internalizing and externalizing disorders. Whether childhood abuse and psychopathology contribute independently to parental abusive behaviors or if the association between childhood abuse and the parental physical abuse is mediated by the individual’s psychopathology has not been studied empirically. Methods The current study is based on data from a representative sample (N=4141). Lifetime psychiatric diagnoses, childhood experiences of sexual and physical abuse, and physically abusive behaviors exhibited towards children were assessed. Results Internalizing and externalizing disorders partially mediated the association between childhood abuse and parental abuse. Nonetheless, the participant’s internalizing disorders, externalizing disorders, and previous experiences of childhood abuse each independently predicted parental abuse. Further, the influence of childhood abuse was greater for women than men. Limitations The data is cross-sectional, thus clear conclusions regarding causality cannot be made. Conclusions There are multiple pathways in the etiology of parental abusive behaviors. Previous experiences of childhood abuse, internalizing disorders, and externalizing disorders each contribute to parental abuse. Individuals with psychiatric disorders or a history of childhood abuse are at an increased risk for abusive behaviors towards children in their care. Identifying such high risk parents and providing parent training programs may be effective in lowering rates of child abuse. PMID:18603302

  16. Formulating a return-to-work decision for employees with major depressive disorders: occupational therapists’ experiences

    Directory of Open Access Journals (Sweden)

    Enos Ramano

    2016-03-01

    Full Text Available Background: Major depressive disorder (MDD is worldwide one of the most concerning health problems as it is associated with reduced work productivity and permanent disability. Occupational therapists are often called upon to make a return-to-work decision on employees with MDD in order to facilitate continued employment. Sustaining employment is in alignment with achieving the Millennium Development Goal 1: Eradicating extreme poverty, as it is known that people suffering from mental health disorders are frequently denied employment opportunities leading to reduced financial resources and therefore possible poverty.Aim: This study described occupational therapists’ experiences of formulating a return-to workdecision on employees with MDD. It formed part of a larger study.Setting: Occupational therapists working in vocational rehabilitation or mental health in South Africa with a postgraduate qualification in vocational rehabilitation or mental health participated in the study.Method: A qualitative research design was used. Two separate focus groups explored 11 occupational therapists’ experiences of formulating a return-to-work decision on employees with MDD. Ethics clearance number: S34/2007.Results: Seven themes emerged, which were, (1 the biographical profile of the employee, (2 point of view of employer, (3 point of view of employee, (4 point of view of occupational therapist, (5 declaring the employee as temporary incapacitated, (6 declaring the employee as permanently incapacitated and (7 employee’s level of motivation.Conclusion: Occupational therapists ought to have sound knowledge, skill, experience and the ability to collaborate with employees and employers in formulating a return-to-work decision.

  17. Emotional Experience and Awareness of Self: Functional MRI Studies of Depersonalization Disorder

    Science.gov (United States)

    Medford, Nick; Sierra, Mauricio; Stringaris, Argyris; Giampietro, Vincent; Brammer, Michael J.; David, Anthony S.

    2016-01-01

    This paper presents functional MRI work on emotional processing in depersonalization disorder (DPD). This relatively neglected disorder is hallmarked by a disturbing change in the quality of first-person experience, almost invariably encompassing a diminished sense of self and an alteration in emotional experience such that the sufferer feels less emotionally reactive, with emotions experienced as decreased or “damped down,” so that emotional life seems to lack spontaneity and subjective validity. Here we explored responses to emotive visual stimuli to examine the functional neuroanatomy of emotional processing in DPD before and after pharmacological treatment. We also employed concurrent skin conductance measurement as an index of autonomic arousal. In common with previous studies we demonstrated that in DPD, there is attenuated psychophysiological response to emotional material, reflected in altered patterns of (i) regional brain response, (ii) autonomic responses. By scanning participants before and after treatment we were able to build on previous findings by examining the changes in functional MRI response in patients whose symptoms had improved at time 2. The attenuation of emotional experience was associated with reduced activity of the insula, whereas clinical improvement in DPD symptoms was associated with increased insula activity. The insula is known to be implicated in interoceptive awareness and the generation of feeling states. In addition an area of right ventrolateral prefrontal cortex emerged as particularly implicated in what may be “top-down” inhibition of emotional responses. The relevance of these findings to the wider study of emotion, self-related processes, and interoception is discussed. PMID:27313548

  18. Congenital syphilis in the 21st century.

    Science.gov (United States)

    Rodríguez-Cerdeira, C; Silami-Lopes, V G

    2012-10-01

    While the prevalence of congenital syphilis continues to be low throughout most of the developed world, there has been a slight resurgence of the disease in several European countries, including Spain. In this context, we need to become more familiar with the signs and symptoms of this disease and consider its diagnosis in patients with only mild clinical manifestations. A definitive diagnosis may be difficult or even impossible in patients whose diagnostic tests reveal low positive titers or inconsistent results. The cornerstone of congenital syphilis control is prenatal screening and the treatment of infected mothers with penicillin, an effective and economical intervention. Based on a review of the literature supplemented by data from our own clinical experience, this article provides a detailed description of the clinical manifestations of congenital syphilis as well as the various diagnostic methods and treatments available. Copyright © 2011 Elsevier España, S.L. y AEDV. All rights reserved.

  19. Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes.

    Science.gov (United States)

    Gallego, Jorge

    2012-07-01

    The present review summarizes current knowledge on three rare genetic disorders of respiratory control, congenital central hypoventilation syndrome (CCHS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS). CCHS is characterized by lack of ventilatory chemosensitivity caused by PHOX2B gene abnormalities consisting mainly of alanine expansions. RTT is associated with episodes of tachypneic and irregular breathing intermixed with breathholds and apneas and is caused by mutations in the X-linked MECP2 gene encoding methyl-CpG-binding protein. PWS manifests as sleep-disordered breathing with apneas and episodes of hypoventilation and is caused by the loss of a group of paternally inherited genes on chromosome 15. CCHS is the most specific disorder of respiratory control, whereas the breathing disorders in RTT and PWS are components of a more general developmental disorder. The main clinical features of these three disorders are reviewed with special emphasis on the associated brain abnormalities. In all three syndromes, disease-causing genetic defects have been identified, allowing the development of genetically engineered mouse models. New directions for future therapies based on these models or, in some cases, on clinical experience are delineated. Studies of CCHS, RTT, and PWS extend our knowledge of the molecular and cellular aspects of respiratory rhythm generation and suggest possible pharmacological approaches to respiratory control disorders. This knowledge is relevant for the clinical management of many respiratory disorders that are far more prevalent than the rare diseases discussed here. 2012 American Physiological Society. Compr Physiol 2:2037-2061, 2012.

  20. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    BACKGROUND: Congenital heart diseases are commonly associated with other extra cardiac congenital malformations. OBJECTIVE: To identify congenital heart diseases associated with identified syndromes and other extra cardiac congenital malformations in children in our hospital. METHODS: A prospective descriptive ...

  1. Psychotherapy role expectations and experiences - discrepancy and therapeutic alliance among patients with substance use disorders.

    Science.gov (United States)

    Frankl, My; Philips, Björn; Wennberg, Peter

    2014-12-01

    The main aim of the study was to examine how the discrepancy between role expectations prior to psychotherapy and experiences of ongoing psychotherapy related to therapeutic alliance. We hypothesized that a similarity between patient role expectations and experiences would be associated with a stronger alliance. The study also examined whether different dimensions of psychotherapy role expectations predicted retention in psychotherapy. A naturalistic study design was used with data collected prior to therapy and during the first 6 months of therapy. Patients with substance use disorders completed the Psychotherapy Expectation Questionnaire-short version (PEX-S) at the time of therapy assessment. A subsample of these patients (n = 41; n = 24 in individual therapy and n = 17 in group therapy) provided data from therapy including psychotherapy experiences (also measured with PEX-S) and therapeutic alliance, measured with Working Alliance Questionnaire-short version. For patients in group therapy, discrepancy between role expectations and experiences correlated negatively with alliance. Expectations prior to psychotherapy characterized by defensiveness correlated negatively with therapy retention. The finding that disconfirmation of patients' role expectations in group therapy were associated with weaker therapeutic alliance highlights the importance of discussing psychotherapy expectations at an early stage in treatment. Expectations characterized by defensiveness predicted worse retention in psychotherapy, which indicates that the PEX-S can be helpful in detecting patients at risk for dropout. In targeting a patient's role expectancies prior to treatment, possible discrepancies between patient and therapist are made visible and possible to examine. Clarifying the patient's role expectations and the therapist's rationale might be a first step towards establishing a strong working alliance. Surveying the patient's defensiveness tendencies at the beginning of therapy

  2. Children with disorders of sex development: A qualitative study of early parental experience

    Directory of Open Access Journals (Sweden)

    Crissman Halley P

    2011-10-01

    Full Text Available Abstract Background Clinical research on psychological aspects of disorders of sex development (DSD has focused on psychosexual differentiation with relatively little attention directed toward parents' experiences of early clinical management and their influence on patient and family psychosocial adaptation. Objectives To characterize parental experiences in the early clinical care of children born with DSD. Study Design Content analysis of interviews with parents (n = 41 of 28 children, newborn to 6 years, with DSD. Results Four major domains emerged as salient to parents: (1 the gender assignment process, (2 decisions regarding genital surgery, (3 disclosing information about their child's DSD, and (4 interacting with healthcare providers. Findings suggested discordance between scientific and parental understandings of the determinants of "sex" and "gender." Parents' expectations regarding the benefits of genital surgery appear largely met; however, parents still had concerns about their child's future physical, social and sexual development. Two areas experienced by many parents as particularly stressful were: (1 uncertainties regarding diagnosis and optimal management, and (2 conflicts between maintaining privacy versus disclosing the condition to access social support. Conclusions Parents' experiences and gaps in understanding can be used to inform the clinical care of patients with DSD and their families. Improving communication between parents and providers (and between parents and their support providers throughout the early clinical management process may be important in decreasing stress and improving outcomes for families of children with DSD.

  3. Eating disorders - knowledge, attitudes, management and clinical experience of Norwegian dentists.

    Science.gov (United States)

    Johansson, Ann-Katrin; Johansson, Anders; Nohlert, Eva; Norring, Claes; Åstrøm, Anne Nordrehaug; Tegelberg, Åke

    2015-10-14

    The purpose of this study was to investigate knowledge, attitudes and clinical experience with regard to patients with eating disorders (ED) among Norwegian dentists. In 2010, a questionnaire was sent to all dentists in Norway (N = 4282) comprising 33 questions related to demographics of the participating dentists, their knowledge of ED (general and oral health aspects), clinical experience, attitudes and perceived management preferences. The participation rate was 40 % (47 % women and 53 % men). Their knowledge about ED was often retrieved from common media sources and the greater part of the participants reported they had seen very few patients with ED during their professional career. Female dentists reported superior knowledge about ED compared to males, but the former experienced greater difficulties to inform about the condition. Referrals of the patient to other health facilities were significantly more common among female compared to male dentists. The majority of dentists (76 %) reported a need of more education related to ED management. The Norwegian dentists in this study reported limited clinical experience and insufficient knowledge regarding ED. There is therefore a need to increase both undergraduate and continuing education in this field, which can improve preventive and management measures that a dentist can provide for ED patients.

  4. The experience of posttraumatic stress disorder in patients after acute myocardial infraction: A qualitative research.

    Directory of Open Access Journals (Sweden)

    H. Staikos

    2017-03-01

    Full Text Available Introduction: Acute myocardial infarction (AMI is one of the most frequent causes of death worldwide, which may result in post-traumatic stress (acute or chronic, as well as in psychological distress, both of which change to a decisive extent the life and daily routine of the patient. Purpose: To investigate the experience of post-traumatic stress disorder in patients who suffered an AMI and its effect on their quality of life. Methodology: This qualitative research was conducted using the hermeneutic/phenomenological approach. Using with the method of semi-structured interviews, 20 (15 men, 5 women patients described their experiences. The data were analyzed using the empirically grounded theory. Results: Patients who suffered an AMI exhibited a series of acute post-traumatic stress symptoms during the first hours after the onset of the disease, which sometimes may be evident for up to two years. The daily presence of psychological distress and the evident manifestation of the concept of spiritual maturation significantly altered their daily habits. Conclusions: Patients with AMI experience post-traumatic stress which starts in the first hours after the event and may last for up to two years, which significantly affect their quality of life.

  5. Spiritual Journey in Mothers’ Lived Experiences of Caring for Children With Autism Spectrum Disorders

    Science.gov (United States)

    Heydari, Abbas; Shahidi, Laleh Hosseini; Mohammadpour, Ali

    2015-01-01

    Introduction: Helping mothers who have children with autism spectrum disorders requires understanding of their lived experiences. This study aims to uncover the spiritual journey as a main theme in Iranian mothers’ experiences. Method: This hermeneutic phenomenological study is a part of a larger study undertaken for partial fulfillment of the requirement for PhD dissertation in nursing. The main study was performed on 18 cases of Iranian mothers, with experience of caring for a child with an autism spectrum during 2011-2012. They were selected based on purposeful sampling method. Semi -structured interviews for data collection were used. Data analyses were done with the interpretative method. Results: Spiritual journey is one of the main themes of the phenomenon under study in the original project. It consists of three sub -themes each of which supported by a number of common meaning. The sub-themes and their common meanings in parenthesis are (1) Descent: wondering between what is and what will be (having sorrowful tale, unanswered question, escaping from reality, losing hope) (2) Connecting to deity: reflection on the failure in her struggle (gratefulness, surrendering to god, having the divine test) (3) Ascent: helping her child is becoming all of the mother’s life (to rescue, being hopeful, listening to her inner voice). Conclusion: This research concluded that caring for the autistic children led mothers’ lives to raise spirituality and enabled them to help their children and themselves, to grow and be refined in this process. PMID:26153169

  6. Spiritual Journey in Mothers' Lived Experiences of Caring for Children With Autism Spectrum Disorders.

    Science.gov (United States)

    Heidary, Abbas; Hosseini Shahidi, Laleh; Mohammadpuor, Ali

    2015-03-30

    Helping mothers who have children with autism spectrum disorders requires understanding of their lived experiences. This study aims to uncover the spiritual journey as a main theme in Iranian mothers' experiences. This hermeneutic phenomenological study is a part of a larger study undertaken for partial fulfillment of the requirement for PhD dissertation in nursing. The main study was performed on 18 cases of Iranian mothers, with experience of caring for a child with an autism spectrum during 2011-2012. They were selected based on purposeful sampling method. Semi -structured interviews for data collection were used. Data analyses were done with the interpretative method. Spiritual journey is one of the main themes of the phenomenon under study in the original project. It consists of three sub -themes each of which supported by a number of common meaning. The sub-themes and their common meanings in parenthesis are (1) Descent: wondering between what is and what will be (having sorrowful tale, unanswered question, escaping from reality, losing hope) (2) Connecting to deity: reflection on the failure in her struggle (gratefulness, surrendering to god, having the divine test) (3) Ascent: helping her child is becoming all of the mother's life (to rescue, being hopeful, listening to her inner voice) This research concluded that caring for the autistic children led mothers' lives to raise spirituality and enabled them to help their children and themselves, to grow and be refined in this process.

  7. Clinical experiences in conducting empirically supported treatments for generalized anxiety disorder.

    Science.gov (United States)

    Szkodny, Lauren E; Newman, Michelle G; Goldfried, Marvin R

    2014-01-01

    Knowledge of the efficacy of cognitive-behavioral therapy (CBT) for generalized anxiety disorder (GAD) predominantly derives from randomized controlled trials (RCTs). However, there may be unique or complex issues encountered in practice, but not necessarily in the context of a controlled clinical trial. Therefore, launching a systematic dialogue between researcher and practicing clinician can be instrumental in augmenting evidence-based therapies through identification of variables that promote and interfere with clinical effectiveness. Through an initiative sponsored by the American Psychological Association's Divisions 12 (Society for Clinical Psychology) and 29 (Psychotherapy), this study aimed to examine clinical experiences conducting CBT for GAD. The participants were 260 psychotherapists who completed an online survey on assessment and therapeutic intervention utilization and their experience of factors that limit successful GAD treatment and symptom reduction. The majority of respondents reported 20 years or less experience using ESTs for GAD, typically treating clients in outpatient clinics, treatment centers, and private practice. Some of the most commonly used interventions address clients' maladaptive cognitions and elevated anxiety and muscle tension typical of GAD. Approximately one half of respondents reported incorporating integrative techniques into treatment. Factors perceived as limiting effective GAD treatment included severity and chronicity of GAD, presence of comorbid conditions, stressful home and work environments, client motivation and resistance to treatment, and issues encountered when executing therapy techniques. This study provides researchers with clinically derived directions for future empirical investigation into enhancing efficacy of GAD treatment. © 2013.

  8. NonClassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Azziz Ricardo

    2010-05-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  9. Mixed methods study examining work reintegration experiences from perspectives of Veterans with mental health disorders.

    Science.gov (United States)

    Kukla, Marina; Rattray, Nicholas A; Salyers, Michelle P

    2015-01-01

    Recent findings have demonstrated that reintegration for Veterans is often challenging. One difficult aspect of reintegration—transitioning into the civilian workplace—has not been fully explored in the literature. To address this gap and examine work reintegration, this mixed methods study examined the perspectives of Veterans with mental health disorders receiving Department of Veterans Affairs healthcare. Forty Veterans rated factors that affect work success; participants also provided narratives on their most and least successful work experiences. We used t-tests and qualitative analysis to compare participants who did and did not serve in combat. Several themes relevant to work reintegration emerged in the narratives, particularly for Veterans who served in combat. An array of work difficulties were reported in the months following military discharge. In addition, Veterans who served in combat reported significantly more work barriers than Veterans who did not serve in combat, particularly health-related barriers. In conclusion, Veterans with mental health disorders who served in combat experienced more work reintegration difficulty than their counterparts who did not serve in combat. The role of being a Veteran affected how combat Veterans formed their self-concept, which also shaped their work success and community reintegration, especially during the early transition period.

  10. The role of family experiences and ADHD in the early development of oppositional defiant disorder.

    Science.gov (United States)

    Harvey, Elizabeth A; Metcalfe, Lindsay A; Herbert, Sharonne D; Fanton, John H

    2011-12-01

    The present study examined the role of family experiences in the early development and maintenance of oppositional defiant disorder (ODD) symptoms in preschool-age children with behavior problems. Participants were 199 3-year-old children with behavior problems who took part in 4 annual child and family assessments. Children with behavior problems who were exposed to overreactive parenting practices, maternal depression, marital conflict, and lower family income tended to have more ODD symptoms 3 years later. Moreover, initial changes in paternal overreactivity and changes in maternal depression corresponded to initial changes in ODD symptoms. Children who met criteria for attention-deficit/hyperactivity disorder at 6 years of age were less likely to show improvement in ODD symptoms from 3 to 6 years of age, and they were more likely to have been exposed to negative parenting practices, marital conflict, and parental depression during the preschool years. Maternal depression and overreactivity mediated the relation between early hyperactivity and later ODD symptoms. Results point to the importance of early family functioning in the development of ODD.

  11. Oral care experiences and challenges in children with autism spectrum disorders.

    Science.gov (United States)

    Stein, Leah I; Polido, José C; Najera, Sandy Oliver Lopez; Cermak, Sharon A

    2012-01-01

    The purpose of this study was to investigate the differences between children with autism spectrum disorders (ASD) and their typically developing peers in relation to aspects of oral care. Participants included 396 parents of ASD children or typically developing 2- to 18-year-olds. Parents completed a 37-item questionnaire designed by authors to elicit information about oral care in the home and dental office. Descriptive, bivariate, and multivariate regression analyses were conducted to examine the association between diagnostic group and oral care variables. Significantly more parents of ASD children than parents of typically developing children reported difficulty across almost all oral care variables explored, including oral care in the home, oral care at the dentist, and access to oral care. Following multivariate regression to control for possible confounders-including age, gender, Hispanic status, and paternal education level-all previously significant variables remained significant. This study indicates that children with autism spectrum disorders experience greater difficulties and barriers to care in both the home and dental office settings than their typically developing peers.

  12. Adverse childhood experiences and gender influence treatment seeking behaviors in obsessive-compulsive disorder.

    Science.gov (United States)

    Benedetti, Francesco; Poletti, Sara; Radaelli, Daniele; Pozzi, Elena; Giacosa, Chiara; Smeraldi, Enrico

    2014-02-01

    Exposure to adverse childhood experiences (ACE) increases the risk of adult physical and mental health disorders, including obsessive-compulsive disorder (OCD), and influences adult brain structure and function. ACE could influence the use of psychotropic drugs in adulthood, and treatment seeking behaviors. We assessed the severity of ACE in a sample of 31 healthy controls and 66 patients with OCD who were consecutively referred for hospitalization and were either drug-naïve or drug-treated. In addition, we explored the possible clinical relevance of ACE with two additional analyses: (a) a discriminant function analysis with sex and ACE as factors, and (b) a logistic regression with use of medication as dependent variable and ACE as factor. Despite comparable age, years at school, age at onset of illness, duration of illness, and severity of illness (Y-BOCS), adult drug-naïve patients reported lower exposure to ACE and later contacts with mental health professionals than drug-treated. This effect was particularly evident in female patients compared to males. The interaction of gender with factors linked with the early familial environment biased access to psychiatric care and use of medication, independent of OCD-associated factors such as severity of symptoms or duration of illness. The need for medications of patients could be higher in families where OCD symptomatology is associated with ACE. © 2014.

  13. Is "not just right experience" (NJRE) in obsessive-compulsive disorder part of an autistic phenotype?

    Science.gov (United States)

    Hellriegel, Josselyn; Barber, Caroline; Wikramanayake, Maheshi; Fineberg, Naomi A; Mandy, William

    2017-02-01

    Harm avoidance (HA) and "not just right experience" (NJRE) have been proposed to be 2 core motivational processes underlying obsessive-compulsive disorder (OCD). The objective of this study was to explore whether NJRE demarcates a neurodevelopmental OCD subgroup distinct from HA related to autistic traits and/or to a broader phenotype of cognitive rigidity and sensory processing difficulties associated with an earlier age of OCD onset. A correlational design investigated whether NJRE and HA are distinct entities in OCD and explored their relationship to autism spectrum disorder (ASD) traits measured by the Autism Quotient (AQ), sensory processing, set-shifting, and age of OCD onset in an OCD sample (N=25). NJRE was only moderately (r=.34) correlated to HA and not significant in this study. Consistent with predictions, NJRE was associated with sensory processing difficulties and an earlier age of OCD onset. No significant relationships were found between NJRE and ASD traits as measured by the AQ or set-shifting difficulties. These preliminary findings suggest a lack of evidence demonstrating NJRE as a manifestation of core autistic traits as measured by the AQ. However, NJRE was associated with sensory abnormalities and an earlier age of OCD onset. The role of NJRE as a developmental, and possibly neurodevelopmental, risk factor for OCD possibly warrants further investigation.

  14. Adverse childhood experiences and suicide attempts among those with mental and substance use disorders.

    Science.gov (United States)

    Choi, Namkee G; DiNitto, Diana M; Marti, C Nathan; Segal, Steven P

    2017-07-01

    Using the 2012-2013 National Epidemiologic Survey on Alcohol and Related Conditions data, we examined the associations of ten types of adverse childhood experiences (ACEs) with (1) lifetime suicide attempts and (2) number and age of attempts among U.S. adults aged 18+. In a case-control design, suicide attempters (5.14% of the full sample) were matched with never attempters (matched sample N=3912) on nine mental and substance use disorders. ACE rates were higher among attempters (3.30 [SE=0.07]) than their matched controls (2.19 [SE=0.06]). Results from multivariable logistic regression analyses showed that sexual abuse and parental/other family member's mental illness were associated with increased odds of having attempted suicide among both genders, and emotional neglect was also a factor for men. Population attributable risk fractions for sexual abuse were 25.75% for women and 8.56% for men. Sexual abuse and a higher number of ACEs were also related to repeated suicide attempts. A higher number of ACEs was associated with a younger first attempt age. Gay/bisexual orientation in men and the lack of college education in both genders were significant covariates. In conclusion, this study underscores that ACEs are significantly associated with lifetime suicide attempts even when mental and substance use disorders are controlled. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Congenital Malaria in China

    Science.gov (United States)

    Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-01-01

    Abstract Background Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum–endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax–endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Methods/Principal Findings Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured

  16. Prevalence of congenital muscular dystrophy in Italy

    Science.gov (United States)

    Graziano, Alessandra; Bianco, Flaviana; D'Amico, Adele; Moroni, Isabella; Messina, Sonia; Bruno, Claudio; Pegoraro, Elena; Mora, Marina; Astrea, Guja; Magri, Francesca; Comi, Giacomo P.; Berardinelli, Angela; Moggio, Maurizio; Morandi, Lucia; Pini, Antonella; Petillo, Roberta; Tasca, Giorgio; Monforte, Mauro; Minetti, Carlo; Mongini, Tiziana; Ricci, Enzo; Gorni, Ksenija; Battini, Roberta; Villanova, Marcello; Politano, Luisa; Gualandi, Francesca; Ferlini, Alessandra; Muntoni, Francesco; Santorelli, Filippo Maria; Bertini, Enrico; Pane, Marika

    2015-01-01

    Objective: We provide a nationwide population study of patients with congenital muscular dystrophy in Italy. Methods: Cases were ascertained from the databases in all the tertiary referral centers for pediatric neuromuscular disorders and from all the genetic diagnostic centers in which diagnostic tests for these forms are performed. Results: The study includes 336 patients with a point prevalence of 0.563 per 100,000. Mutations were identified in 220 of the 336 (65.5%). The cohort was subdivided into diagnostic categories based on the most recent classifications on congenital muscular dystrophies. The most common forms were those with α-dystroglycan glycosylation deficiency (40.18%) followed by those with laminin α2 deficiency (24.11%) and collagen VI deficiency (20.24%). The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively). Conclusions: Our study provides for the first time comprehensive epidemiologic information and point prevalence figures for each of the major diagnostic categories on a large cohort of congenital muscular dystrophies. The study also reflects the diagnostic progress in this field with an accurate classification of the cases according to the most recent gene discoveries. PMID:25653289

  17. Congenital methemoglobinemia. Report of a case

    Directory of Open Access Journals (Sweden)

    Zárate Aspiros Romeo

    2014-07-01

    Full Text Available Methemoglobinemia is a condition in which there are high blood levels of methemoglobin. It may be congenital or acquired. The congenital form (which is rare is the result of a defect in the methemoglobin reductase enzyme, dependent of the nicotinamide adenine dinucleotide phosphate reduced (NADPH; it is also caused by hemoglobinopathies. Congenital methemoglobinemia type 2 constitutes 10% of all cases and is usually fatal in early life. Its main feature is progressive neurological deterioration associa- ted with mental retardation, microcephaly, opisthotonos, athetotic movements, and generalized hypertonia. We report the case of a newborn with cyanosis from birth in whom perinatal hypoxia, pulmonary disease, heart failure and sepsis were ruled out, hence methemoglobin levels were requested, which led to the diagnosis of congenital methemoglobinemia based on a methemoglobin of 29.6%. Methemoglobin values were investigated in his 2 years old brother, who was cyanotic and showed progressive psychomotor retardation from birth; his methemoglobin was 30%. We concluded that both patients had type 2 hereditary methemoglobinemia in view of the severe neu- rological disorders of the older brother. Treatment with ascorbic acid was initiated in both siblings, resulting in the disappearance of cyanosis in the newborn.

  18. The experience of inclusion of students with autism spectrum disorders in the mainstream

    Directory of Open Access Journals (Sweden)

    Borisova N.V.

    2016-04-01

    Full Text Available State general education facility of the Moscow city School Kovcheg № 1321, Moscow, Russia, was founded 25 years ago by professionals of the Center for Curative Pedagogics and parents for education and social ad­aptation of children, including children with disabilities. The school functions based on the principles of in­tegrated education and inclusive approach in education, the educational environment in it was established, and it is adapted for the educational needs of each student on the maximum level. The article describes the experience and organizational forms of inclusion of children with autism spectrum disorders in the educational environment of the Kovcheg school, the main principles and approaches that are used in school education, the directions of the educators' work for creation of the inclusive environment.

  19. Germ Cell Origins of Posttraumatic Stress Disorder Risk: The Transgenerational Impact of Parental Stress Experience.

    Science.gov (United States)

    Rodgers, Ali B; Bale, Tracy L

    2015-09-01

    Altered stress reactivity is a predominant feature of posttraumatic stress disorder (PTSD) and may reflect disease vulnerability, increasing the probability that an individual will develop PTSD following trauma exposure. Environmental factors, particularly prior stress history, contribute to the developmental programming of the hypothalamic-pituitary-adrenal stress axis. Critically, the consequences of stress experiences are transgenerational, with parental stress exposure impacting stress reactivity and PTSD risk in subsequent generations. Potential molecular mechanisms underlying this transmission have been explored in rodent models that specifically examine the paternal lineage, identifying epigenetic signatures in male germ cells as possible substrates of transgenerational programming. Here, we review the role of these germ cell epigenetic marks, including posttranslational histone modifications, DNA methylation, and populations of small noncoding RNAs, in the development of offspring stress axis sensitivity and disease risk. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  20. Adverse childhood experiences, posttraumatic stress disorder symptoms, and emotional intelligence in partner aggression.

    Science.gov (United States)

    Swopes, Rachael M; Simonet, Daniel V; Jaffe, Anna E; Tett, Robert P; Davis, Joanne L

    2013-01-01

    Intimate partner violence (IPV) has been linked to childhood abuse, posttraumatic stress disorder (PTSD), and low emotional intelligence (EI). Relationships among adverse childhood experiences (ACE), PTSD symptoms, and partner aggression (i.e., generalized tendency to aggress toward one's partner) were assessed in 108 male IPV offenders. It was hypothesized that ACE is positively correlated with partner aggression, PTSD mediates the ACE-aggression relationship, and the ACE-PTSD-aggression mediation varies by selected EI facets. Results indicate that ACE has an indirect effect on partner aggression via PTSD and PTSD mediates the ACE-aggression link when emotional self-regulation is low and when intuition (vs. reason) is high. Trauma-exposed IPV offenders may benefit from comprehensive treatments focusing on PTSD symptoms, emotional control, and reasoning skills to reduce aggression.

  1. Congenital Diseases of the Intestine

    NARCIS (Netherlands)

    D. Halim (Danny)

    2016-01-01

    markdownabstractAll research described in this dissertation is focused on understanding the pathophysiology of three rare congenital diseases of the intestine, including megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), congenital short bowel syndrome (CSBS), and hereditary multiple

  2. The Effect of Adverse Childhood Experience on Clinical Diagnosis of a Substance Use Disorder: Results of a Nationally Representative Study.

    Science.gov (United States)

    LeTendre, McKenzie Lynn; Reed, Mark B

    2017-05-12

    Substance abuse is one of the most common health outcomes associated with adverse childhood experience, and poses a significant public health threat. The purpose of this study is to demonstrate a relationship between adverse childhood experience and a substance use disorder using nationally representative data as well as to test whether religion moderates this relationship. We conducted a secondary analysis using data from the National Longitudinal Study of Adolescent to Adult Health (n = 11,279). Three types of adverse childhood experiences were considered; physical, emotional, and sexual abuse. Logistic regression was used to determine whether risk for developing an alcohol use, cannabis use, or other drug use disorder in adulthood increased as exposure to multiple types of adverse childhood experiences increased while controlling for prior substance use and other demographic variables that have shown associations with substance use. In addition, religiosity was investigated as a possible moderator of the relationship between adverse childhood experience and substance abuse. The likelihood of developing a substance use disorder later in life increased as the score on the adverse childhood experience index increased. While religiosity did significantly reduce the likelihood of developing a substance use disorder, no moderating effects were observed. Conclusions/importance: This study underscores the long-term consequences of exposure to childhood adversity.

  3. A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

    Directory of Open Access Journals (Sweden)

    Sunil Pawar

    2015-11-01

    Full Text Available Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. One of the siblings had a large regenerating nodule replacing the entire right lobe of the liver and other one developed repeated hematemesis. This constellation of diagnosis belongs to the ciliopathy group of disorders. The spectrum of ciliopathy disorders has been evolving, and it varies from mild to severe manifestations.

  4. Clinical and genetic basis of congenital myasthenic syndromes

    Directory of Open Access Journals (Sweden)

    Paulo Victor Sgobbi de Souza

    Full Text Available ABSTRACT Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians. We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.

  5. Negative experiences in childhood and the development and course of bipolar disorder.

    Science.gov (United States)

    Jaworska-Andryszewska, Paulina; Rybakowski, Janusz

    2016-10-31

    The aim of this paper is to review the effects of negative childhood experiences on the development and course of bipolar disorder (BD) and to discuss the involved mechanisms. The negative childhood experiences that may play a role in BD are critical or traumatic events including all kinds of abuse, loss of a parent or parents resulting from death, suicide, separation, divorce or prolonged separation. Previous studies indicate that in BD patients negative childhood events are more frequent than in control group. In BD patients these events are associated with an earlier onset and more severe course of the illness, including more frequent relapses, suicidal behavior, substance abuse and somatic diseases. This paper presents the possibility of the specific impact of individual events on the clinical outcome of BD. Mechanisms explaining the impact of negative childhood events on the development and course of BD include the interaction between biological predisposition and stress factors, the concept of kindling and activation of negative cognitive schemas. Early negative experiences cause a modification of the expression of the mediators of stress and neurotransmitters in certain areas of the brain. The interaction of these mediators with the development of neural networks may lead to long-lasting structural and functional changes. Molecular genetic studies indicate the possibility of interactions between environmental factors (stress) and the polymorphisms of serotonin transporter, brain-derived neurotrophic factor (BDNF) and toll-like receptor (TLR2). It has also been hypothesized that childhood experiences affect DNA methylation, acting as a form of molecular memory and modifying brain activity over the next decade.

  6. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  7. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  9. Experience sampling and ecological momentary assessment for studying the daily lives of patients with anxiety disorders: a systematic review.

    Science.gov (United States)

    Walz, Laura C; Nauta, Maaike H; Aan Het Rot, Marije

    2014-12-01

    Anxiety disorders are highly prevalent. Symptoms may occur unpredictably (e.g., panic attacks) or predictably in specific situations (e.g., social phobia). Consequently, it may be difficult to assess anxiety and related constructs realistically in the laboratory or by traditional retrospective questionnaires. Experience sampling methods (ESM) and ecological momentary assessment (EMA) can deepen the understanding of the course of anxiety disorders by frequently assessing symptoms and other variables in the natural environment. We review 34 ESM/EMA studies on adult panic disorder, generalized anxiety disorder, social phobia, post-traumatic stress disorder, and obsessive-compulsive disorder, as well as anxiety disorders in youth. Benefits of ESM/EMA for the study of anxiety disorders include generating insight into the temporal variability of symptoms and into the associations among daily affect, behaviors, and situational cues. Further, ESM/EMA has been successfully combined with ambulatory assessment of physiological variables and with treatment evaluations. We provide suggestions for future research, as well as for clinical applications. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

    NARCIS (Netherlands)

    Baker, NL; Morgelin, M; Peat, R; Goemans, N; North, KN; Bateman, JF; Lamande, [No Value

    2005-01-01

    Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered

  11. Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia

    Science.gov (United States)

    Ford, Kenneth L.; dePrisco, Gregory; Smerud, Michael J.

    2013-01-01

    Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed. PMID:23814386

  12. Congenital Amusia: A Short-Term Memory Deficit for Non-Verbal, but Not Verbal Sounds

    Science.gov (United States)

    Tillmann, Barbara; Schulze, Katrin; Foxton, Jessica M.

    2009-01-01

    Congenital amusia refers to a lifelong disorder of music processing and is linked to pitch-processing deficits. The present study investigated congenital amusics' short-term memory for tones, musical timbres and words. Sequences of five events (tones, timbres or words) were presented in pairs and participants had to indicate whether the sequences…

  13. Congenital syphilis in the newborn.

    OpenAIRE

    V; Chawla; Pandit, P B; Nkrumah, F K

    1988-01-01

    We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.

  14. Preliminary experience with porcine intestinal submucosa (CorMatrix) for valve reconstruction in congenital heart disease: histologic evaluation of explanted valves.

    Science.gov (United States)

    Zaidi, Abbas Haider; Nathan, Meena; Emani, Sitaram; Baird, Christopher; del Nido, Pedro J; Gauvreau, Kimberlee; Harris, Marian; Sanders, Stephen P; Padera, Robert F

    2014-11-01

    We compared the histologic findings in explanted CorMatrix (9 patients) and autologous pericardium (9 patients) used for valvuloplasty of the aortic (7 patients) and/or mitral (11 patients) valve in patients with congenital heart defects. We used standard tissue stains and immunohistochemistry to identify the inflammatory cell type. CorMatrix was associated with an intense inflammatory response in the surrounding native tissue, extending into CorMatrix in 8 of 9 cases, continuing to the longest follow-up point (9 months). The typical response included macrophages and giant cells in contact with the material, surrounded by lymphocytes, macrophages, plasma cells, and eosinophils. The thickness of the residual CorMatrix material was 280 to 300 μm, similar to the nominal thickness at implantation and unrelated to the implantation duration. Only at the longest follow-up interval was any significant resorption of CorMatrix material evident. A neointima had formed on the surface of CorMatrix, increasing in thickness with the period in situ. Mild cellular infiltration of CorMatrix was noted in all cases; however, in no case, did it appear that CorMatrix was being remodeled into tissue resembling a 3-layered native valve. In contrast, a near absence of any inflammatory reaction was seen and no eosinophilia associated with autologous pericardium was present, irrespective of the duration in situ. Furthermore, we observed more tissue infiltration, remodeling, vascularization, and neointima formation with autologous pericardium. Although CorMatrix used for valve repair induced an intense inflammatory response, little or no remodeling to form tissue resembling a 3-layered native valve was seen at ≤9 months after implantation. Copyright © 2014 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  15. Single centre experience of the application of self navigated 3D whole heart cardiovascular magnetic resonance for the assessment of cardiac anatomy in congenital heart disease.

    Science.gov (United States)

    Monney, Pierre; Piccini, Davide; Rutz, Tobias; Vincenti, Gabriella; Coppo, Simone; Koestner, Simon C; Sekarski, Nicole; Di Bernardo, Stefano; Bouchardy, Judith; Stuber, Matthias; Schwitter, Juerg

    2015-07-09

    For free-breathing cardiovascular magnetic resonance (CMR), the self-navigation technique recently emerged, which is expected to deliver high-quality data with a high success rate. The purpose of this study was to test the hypothesis that self-navigated 3D-CMR enables the reliable assessment of cardiovascular anatomy in patients with congenital heart disease (CHD) and to define factors that affect image quality. CHD patients ≥2 years-old and referred for CMR for initial assessment or for a follow-up study were included to undergo a free-breathing self-navigated 3D CMR at 1.5T. Performance criteria were: correct description of cardiac segmental anatomy, overall image quality, coronary artery visibility, and reproducibility of great vessels diameter measurements. Factors associated with insufficient image quality were identified using multivariate logistic regression. Self-navigated CMR was performed in 105 patients (55% male, 23 ± 12y). Correct segmental description was achieved in 93% and 96% for observer 1 and 2, respectively. Diagnostic quality was obtained in 90% of examinations, and it increased to 94% if contrast-enhanced. Left anterior descending, circumflex, and right coronary arteries were visualized in 93%, 87% and 98%, respectively. Younger age, higher heart rate, lower ejection fraction, and lack of contrast medium were independently associated with reduced image quality. However, a similar rate of diagnostic image quality was obtained in children and adults. In patients with CHD, self-navigated free-breathing CMR provides high-resolution 3D visualization of the heart and great vessels with excellent robustness.

  16. Congenital Toxoplasmosis: A Review.

    Science.gov (United States)

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  17. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...... the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses....

  18. Congenital maxillary double lip

    Directory of Open Access Journals (Sweden)

    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  19. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  20. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  1. Understanding the experiences of allergy testing: a qualitative study of people with perceived serious allergic disorders.

    Science.gov (United States)

    Burton, Christopher; Irshad, Tasneem; Sheikh, Aziz

    2010-10-01

    To investigate the experience of patients with perceived severe allergic disorders in obtaining allergen testing. In-depth interviews with 20 purposively sampled adults and parents of children with, or at perceived risk of, serious allergic problems. Data were analysed thematically, drawing on Frank's classification of narratives to help interpret patient/career accounts. Accounts fell into four main groups: (i) children with anaphylaxis occurring 'out of the blue' (ii) children in whom the recognition of severe allergy by professionals was perceived as delayed; (iii) adults with anaphylaxis who adapted; and (iv) adults who remained in search of an answer. Whereas children had eventually been assessed and tested in a specialist clinic, adults had difficulty in obtaining testing, and most-including those for whom current guidelines would recommend testing-had not been tested. Participants incorporated their past experience of testing into narrative accounts, which included current ways of dealing with their allergy. They saw testing as only one component of appropriate allergy management which required interpretive expertise in professionals who ordered tests. Despite the limitations in NHS allergy testing provision, there was relatively little interest among patients/carers in using complementary and alternative providers of allergy testing. Patients perceived major shortfalls in relation to NHS allergy testing provision, focusing on both the availability of testing and expertise in interpreting the results. Any increased provision of testing needs to be matched by access to specialist interpretation of these tests.

  2. Instructing children with Autism Spectrum Disorder: Examining swim instructors' knowledge building experiences.

    Science.gov (United States)

    Kraft, Erin; Leblanc, Raymond

    2017-11-22

    Although there has been a notable increase in Autism Spectrum Disorder (ASD) diagnoses over the past twenty years, children with ASD continue to be underrepresented in physical activity opportunities. Swimming lessons have been suggested as an ideal form of physical activity for this population, but studies exploring instructors' experiences gaining knowledge specific for instructing these swimmers remains limited. Research in this area is warranted, as drowning is a leading injury cause of death for persons with ASD. The purpose of this brief report was to examine swim instructors' preferred knowledge sources for building their individual swimming lessons, catered to swimmers with ASD. Moreover, this study aimed to provide context specific insights for instructors and instructor educators to increase new and future instructors' preparedness for meeting the needs of this population. Three recreational swim instructors were recruited for this qualitative study. Data were collected using a demographic questionnaire, observations, and semi-structured interviews. Analysis was completed using Braun & Clarke's guide for thematic analysis. The results indicated that swim instructors' sources for building knowledge included: learning from peers/mentors, receiving support from parents/caregivers, and participating in additional certification programs or training. With a more extensive understanding of instructors' knowledge building experiences, instructor educators may integrate this knowledge into future development programs to prepare a greater number of trained individuals to facilitate physical activities for children with ASD. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Experience of gratitude, awe and beauty in life among patients with multiple sclerosis and psychiatric disorders.

    Science.gov (United States)

    Büssing, Arndt; Wirth, Anne Gritli; Reiser, Franz; Zahn, Anne; Humbroich, Knut; Gerbershagen, Kathrin; Schimrigk, Sebastian; Haupts, Michael; Hvidt, Niels Christian; Baumann, Klaus

    2014-04-30

    Feelings of gratitude and awe facilitate perceptions and cognitions that go beyond the focus of illness and include positive aspects of one's personal and interpersonal reality, even in the face of disease. We intended to measure feelings of gratitude, awe, and experiences of beauty in life among patients with multiple sclerosis and psychiatric disorders, particularly with respect to their engagement in specific spiritual/religious practices and their life satisfaction. We conducted a cross-sectional survey with standardized questionnaires to measure engagement in various spiritual practices (SpREUK-P) and their relation to experiences of Gratitude, Awe and Beauty in Life and life satisfaction (BMLSS-10). In total, 461 individuals (41 ± 13 years; 68% women) with multiple sclerosis (46%) and depressive (22%) or other psychiatric disorders (32%) participated. Among participants, 23% never, 43% rarely, 24% often, and 10% frequently experienced Gratitude. In contrast, 41% never, 37% rarely, 17% often, and 6% frequently experienced Awe. Beauty in Life was never experienced by 8% of the sample, and 28% rarely, 46% often, and 18% frequently experienced it. Gratitude (F = 9.2; p = .003) and Beauty in Life (F = 6.0; p = .015) were experienced significantly more often by women than men. However, the experience of Awe did not differ between women and men (F = 2.2; n.s.). In contrast to our hypothesis, Gratitude/Awe cannot explain any relevant variance in patients' life satisfaction (R2 = .04). Regression analyses (R2 = .42) revealed that Gratitude/Awe can be predicted best by a person's engagement in religious practices, followed by other forms of spiritual practices and life satisfaction. Female gender was a weak predictor and underlying disease showed no effect. Gratitude/Awe could be regarded as a life orientation towards noticing and appreciating the positive in life--despite the symptoms of disease. Positive spirituality/religiosity seems

  4. Experience of gratitude, awe and beauty in life among patients with multiple sclerosis and psychiatric disorders

    Science.gov (United States)

    2014-01-01

    Background Feelings of gratitude and awe facilitate perceptions and cognitions that go beyond the focus of illness and include positive aspects of one’s personal and interpersonal reality, even in the face of disease. We intended to measure feelings of gratitude, awe, and experiences of beauty in life among patients with multiple sclerosis and psychiatric disorders, particularly with respect to their engagement in specific spiritual/religious practices and their life satisfaction. Methods We conducted a cross-sectional survey with standardized questionnaires to measure engagement in various spiritual practices (SpREUK-P) and their relation to experiences of Gratitude, Awe and Beauty in Life and life satisfaction (BMLSS-10). In total, 461 individuals (41 ± 13 years; 68% women) with multiple sclerosis (46%) and depressive (22%) or other psychiatric disorders (32%) participated. Results Among participants, 23% never, 43% rarely, 24% often, and 10% frequently experienced Gratitude. In contrast, 41% never, 37% rarely, 17% often, and 6% frequently experienced Awe. Beauty in Life was never experienced by 8% of the sample, and 28% rarely, 46% often, and 18% frequently experienced it. Gratitude (F = 9.2; p = .003) and Beauty in Life (F = 6.0; p = .015) were experienced significantly more often by women than men. However, the experience of Awe did not differ between women and men (F = 2.2; n.s.). In contrast to our hypothesis, Gratitude/Awe cannot explain any relevant variance in patients’ life satisfaction (R2 = .04). Regression analyses (R2 = .42) revealed that Gratitude/Awe can be predicted best by a person’s engagement in religious practices, followed by other forms of spiritual practices and life satisfaction. Female gender was a weak predictor and underlying disease showed no effect. Conclusions Gratitude/Awe could be regarded as a life orientation towards noticing and appreciating the positive in life - despite the symptoms of

  5. Attenuation of congenital portosystemic shunt reduces inflammation in dogs.

    Science.gov (United States)

    Tivers, Michael S; Handel, Ian; Gow, Adam G; Lipscomb, Victoria J; Jalan, Rajiv; Mellanby, Richard J

    2015-01-01

    Liver disease is a major cause of morbidity and mortality. One of the most significant complications in patients with liver disease is the development of neurological disturbances, termed hepatic encephalopathy. The pathogenesis of hepatic encephalopathy is incompletely understood, which has resulted in the development of a wide range of experimental models. Congenital portosystemic shunt is one of the most common congenital disorders diagnosed in client owned dogs. Our recent studies have demonstrated that the pathophysiology of canine hepatic encephalopathy is very similar to human hepatic encephalopathy, which provides strong support for the use of dogs with a congenital portosystemic shunt as a naturally occurring model of human hepatic encephalopathy. Specifically, we have demonstrated an important role for ammonia and inflammation in the development of hepatic encephalopathy in dogs with a congenital portosystemic shunt. Despite the apparent importance of inflammation in driving hepatic encephalopathy in dogs, it is unclear whether inflammation resolves following the successful treatment of liver disease. We hypothesized that haematological and biochemical evidence of inflammation, as gauged by neutrophil, lymphocyte and monocyte concentrations together with C-reactive protein concentrations, would decrease following successful treatment of congenital portosystemic shunts in dogs. One hundred and forty dogs with a congenital portosystemic shunt were enrolled into the study. We found that the proportion of dogs with a monocyte concentration above the reference range was significantly greater in dogs with hepatic encephalopathy at time of initial diagnosis. Importantly, neutrophil and monocyte concentrations significantly decreased following surgical congenital portosystemic shunt attenuation. We also found a significant decrease in C-reactive protein concentrations following surgical attenuation of congenital portosystemic shunts. Our study demonstrates that

  6. Attenuation of congenital portosystemic shunt reduces inflammation in dogs.

    Directory of Open Access Journals (Sweden)

    Michael S Tivers

    Full Text Available Liver disease is a major cause of morbidity and mortality. One of the most significant complications in patients with liver disease is the development of neurological disturbances, termed hepatic encephalopathy. The pathogenesis of hepatic encephalopathy is incompletely understood, which has resulted in the development of a wide range of experimental models. Congenital portosystemic shunt is one of the most common congenital disorders diagnosed in client owned dogs. Our recent studies have demonstrated that the pathophysiology of canine hepatic encephalopathy is very similar to human hepatic encephalopathy, which provides strong support for the use of dogs with a congenital portosystemic shunt as a naturally occurring model of human hepatic encephalopathy. Specifically, we have demonstrated an important role for ammonia and inflammation in the development of hepatic encephalopathy in dogs with a congenital portosystemic shunt. Despite the apparent importance of inflammation in driving hepatic encephalopathy in dogs, it is unclear whether inflammation resolves following the successful treatment of liver disease. We hypothesized that haematological and biochemical evidence of inflammation, as gauged by neutrophil, lymphocyte and monocyte concentrations together with C-reactive protein concentrations, would decrease following successful treatment of congenital portosystemic shunts in dogs. One hundred and forty dogs with a congenital portosystemic shunt were enrolled into the study. We found that the proportion of dogs with a monocyte concentration above the reference range was significantly greater in dogs with hepatic encephalopathy at time of initial diagnosis. Importantly, neutrophil and monocyte concentrations significantly decreased following surgical congenital portosystemic shunt attenuation. We also found a significant decrease in C-reactive protein concentrations following surgical attenuation of congenital portosystemic shunts. Our study

  7. Generalized anxiety disorder, major depressive disorder, and their comorbidity as predictors of all-cause and cardiovascular mortality: the Vietnam experience study.

    Science.gov (United States)

    Phillips, Anna C; Batty, G David; Gale, Catharine R; Deary, Ian J; Osborn, David; MacIntyre, Kate; Carroll, Douglas

    2009-05-01

    To examine whether the 1-year prevalence of major depressive disorder (MDD), generalized anxiety disorder (GAD), and their comorbidity were associated with subsequent all-cause and cardiovascular disease (CVD) mortality during 15 years in Vietnam veterans. Participants (N = 4256) were from the Vietnam Experience Study. Service, sociodemographic, and health data were collected from service files, telephone interviews, and a medical examination. One-year prevalence of MDD and GAD was determined through a diagnostic interview schedule based on the Diagnostic and Statistical Manual of Mental Disorders (version IV) criteria. Mortality over the subsequent 15 years was gathered from US army records. MDD and GAD were positively and significantly associated with all-cause and CVD mortality. The relationships between MDD and GAD and CVD mortality were no longer significant after adjustment for sociodemograhics, health status at entry, health behaviors, and other risk markers. Income was the covariate with the strongest impact on this association. In analyses comparing comorbidity and GAD and MDD alone, with neither diagnosis, comorbidity proved to be the strongest predictor of both all-cause and CVD mortality. GAD and MDD predict all-cause mortality in a veteran population after adjusting for a range of covariates. However, those with both GAD and MDD were at greatest risk of subsequent death, and it would seem that these disorders may interact synergistically to affect mortality. Future research on mental disorders and health outcomes, as well as future clinical interventions, should pay more attention to comorbidity.

  8. Changing Landscape of Congenital Heart Disease.

    Science.gov (United States)

    Bouma, Berto J; Mulder, Barbara J M

    2017-03-17

    Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged. However, a large range of complications raised at the horizon as arrhythmias, endocarditis, pulmonary hypertension, and heart failure, and the need for additional treatment became clear. Technical solutions were sought in perfection and creation of new surgical techniques by developing catheter-based interventions, with elimination of open heart surgery and new electronic devices enabling, for example, multisite pacing and implantation of internal cardiac defibrillators to prevent sudden death. Over time, many pharmaceutical studies were conducted, changing clinical treatment slowly toward evidence-based care, although results were often limited by low numbers and clinical heterogeneity. More attention has been given to secondary issues like sports participation, pregnancy, work, and social-related difficulties. The relevance of these issues was already recognized in the 1970s when the need for specialized centers with multidisciplinary teams was proclaimed. Finally, research has become incorporated in care. Results of intervention studies and registries increased the knowledge on epidemiology of adults with congenital heart disease and their complications during life, and at the end, several guidelines became easily accessible, guiding physicians to deliver care appropriately. Over the past decades

  9. The experience of girls and young women with inherited bleeding disorders.

    Science.gov (United States)

    Khair, K; Holland, M; Pollard, D

    2013-09-01

    Haemophilia carriers and women with inherited bleeding disorders (IBD) experience menorrhagia, bleed following dentistry, surgery, injury or childbirth. Symptoms are easily treated leading to full and active lives. Nevertheless, some girls and women suffer with abnormal bleeding for many years before diagnosis. We explored the experiences of girls and young women (aged 9-34 years) with IBD by means of focus groups which consisted of moderated discussion addressing specific aspects of bleeding, management and coping strategies. Subsequently, these issues were explored further though a paper-based questionnaire distributed via five specialist haemophilia centres in the UK. The study suggested that young women with IBD who are managed at haemophilia centres receive appropriate care and feel well supported. Although the clinic-based literature available to these women is "fit for purpose", it does not fully address the perceived needs specifically regarding sex, menorrhagia, conception and childbirth, the Pill, tattoos/piercings and so on, leading many to turn to other information sources. Most of those who responded to our survey are confident in their lives, able to manage their IBD and take pragmatic views towards the inherited nature of their condition. But there is a substantial subgroup of women who experience stigmatization, isolation and bullying and express concerns relating to fertility and conception. Overall, this cohort would benefit from opportunities for mutual support. This could be via Internet-based social networking and may be of particular value to those who are unable to seek help from traditional medical services due to religious or other cultural barriers. © 2013 John Wiley & Sons Ltd.

  10. [Congenital buried penis in children].

    Science.gov (United States)

    Lardellier-Reynaud, F; Varlet, F; François, M; Mouriquand, P

    2011-10-01

    Congenital buried penis in children is an uncommon and poorly known entity. The aims of this study were to report an original technique for correction of buried penis and to evaluate its results. It is a retrospective study of buried penis operated between November 1998 and May 2009. The acquired concealed penis and hypospadias were excluded from this study. The procedure includes several stages: degloving of the penis through a ventral anchor-like incision; division of the adherent layers surrounding the corpora cavernosa; anchorage of the Buck's fascia to the corporeal albuginea at the base of the penis; and ventral cutaneous coverage. The long-term results were evaluated by the parents and the surgeon according to anatomical, functional and aesthetic criterion. Twenty-five boys were evaluated. The mean age at surgery was 27 months (seven days-120 months). Two children required an additional plasty. Results were satisfactory in 24 cases (96%). One child required a redo procedure for unsatisfactory outcome. Of seven children with redundant skin (28%), three underwent a complementary cutaneous excision. Congenital buried penis remains a controversial issue. Our technique was simple and easily reproducible. Voiding difficulties, urinary tract infection or strong parental request were the main indications of this surgery in our experience. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  11. CONCEPTS OF COLORS IN CHILDREN WITH CONGENITAL BLINDNESS

    Directory of Open Access Journals (Sweden)

    Daniela DIMITROVA-RADOJICHIKJ

    2015-11-01

    Full Text Available This descriptive qualitative interview study in¬ves¬tigates knowledge of colours in students who are congenitally blind. The purpose of this research was to explore how the lack of direct experience with colour, as a result of congenital blindness, affects judgments about semantic concepts. Qualitative methods were used to conduct interviews with 15 students. The results of the study indicate that students know the colours and have a favourite colour. The implications for practice are to pay more attention when we teach students with congenital blindness to associate colours with specific objects.

  12. Update on Psychological Trauma, Other Severe Adverse Experiences and Eating Disorders: State of the Research and Future Research Directions.

    Science.gov (United States)

    Trottier, Kathryn; MacDonald, Danielle E

    2017-08-01

    This paper provides an updated review of the literature on the relationship between psychological trauma exposure, other severe adverse experiences, and eating disorders. Trauma exposure and other severe adverse experiences (e.g., emotional abuse) in both childhood and adulthood are associated with eating disorders. The relationship between traumatic and other adverse experiences and eating disorders appears to be mediated by emotional and behavioral dysregulation, as well as by cognitive factors such as self-criticism. Biological vulnerabilities may also be relevant to this relationship. Overall, the literature is limited by predominantly cross-sectional designs. There is clear evidence of a correlational relationship between trauma exposure and other severe adverse events, and eating disorders. Both risk and maintenance factor hypotheses have been put forth; however, prospective research testing these hypotheses remains limited. Future research should use prospective designs and focus on trauma-related symptoms (rather than trauma exposure) in order to advance research on risk and maintaining factors for eating disorders and inform treatment directions.

  13. Sexual Experience Among Emotionally and Behaviorally Disordered Students in Therapeutic Day Schools: An Ecological Examination of Adolescent Risk

    Science.gov (United States)

    Emerson, Erin; Brown, Larry K.; Houck, Christopher; Mackesy-Amiti, Mary Ellen

    2012-01-01

    Objective This study examined gender differences in family, peer, partner, and mental health characteristics related to sexual experience among emotionally and behaviorally disordered students in therapeutic day schools, a population at elevated risk for negative sexual health outcomes. Methods A total of 417 13- to 20-year-old adolescents reported on their family functioning, peer and partner relationship characteristics, mental health problems, and self-reported sexual behavior. Results For boys and girls, peer influence and conduct problems predicted sexual experience, and family dysfunction was related to negative peer influence. Greater rejection sensitivity was related to less sexual experience for boys and girls. The final path model revealed indirect effects of family dysfunction on boys’ but not girls’ sexual experiences. Conclusions Findings underscore the utility of an ecological approach to understand social and personal mechanisms that increase risk and mitigate negative outcomes among emotionally and behaviorally disordered boys and girls in therapeutic day schools. PMID:22467883

  14. Congenital Lumbar Hernia

    OpenAIRE

    Sanjay Sharma; Gagan Bali; Satish Parihar; Neeraj Koul

    2008-01-01

    Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  15. CONGENITAL URETHROPERINEAL FISTULA: REPORT

    African Journals Online (AJOL)

    CONGENiTAL URETHROPERINEAL FISTULA l8 A'DISTINCT TYPE OF URETHRAL DUPLlCATION. gram revealed a normal dorsal urethra and failed to opacity the fistulous tract, but the fis- tula was demonstrated by injection of contrast through the perineal orifice (tistulogram). Cystourethroscopy revealed a normal dor~.

  16. Congenital heart disease

    Science.gov (United States)

    ... for acne, chemicals, alcohol, and infections (such as rubella ) during pregnancy can contribute to some congenital heart problems. Poorly ... medicines. Have a blood test early in your pregnancy to see if you are immune to rubella. If you are not immune, avoid any possible ...

  17. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    INTRODUCTION. Mild degrees of congenital lymphoedema are considered common in the normal population, reflecting normal developmental variability in the regression of the lymphoedema present in every fetus before birth (1). The most common clinical causes of lymphedema are generally not inherited, occurring as.

  18. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  19. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  20. Multiple congenital cranial hemangiomas

    Energy Technology Data Exchange (ETDEWEB)

    Koulouris, George [Alfred Hospital, Department of Radiology, Prahran, Victoria (Australia); Rao, Padma [Royal Children' s Hospital, Department of Radiology, Parkville, Victoria (Australia)

    2005-08-01

    Though cranial hemangiomas are second only to vertebral hemangiomas in frequency, such lesions are rarely congenital and multiple. It is probable that the true incidence of congenital calvarial hemangiomas is higher than that reported in the literature, as they are unlikely to undergo imaging, most being asymptomatic and without a significant soft tissue component. We present a case of multiple congenital calvarial and skull base cavernous-type hemangiomas, diagnosed in a 4-day-old female, involving the right zygoma, maxilla, frontal and petrous temporal bones and contralateral squamous temporal bone. Surgical biopsy confirmed the radiological diagnosis as well as the concomitant multiple subcutaneous capillary-type hemangiomas which were identified clinically. No specific clinical syndrome or chromosomal abnormality was identified and the underlying cerebral parenchyma was normal with no intra-axial involvement. With conservative treatment, two lesions completely resolved and a further two lesions subsequently decreased in both size and degree of enhancement. To the best of our knowledge, this is the first case of multiple congenital hemangiomas involving the calvarium and skull base. Despite this, the radiological features, combined with the clinical findings of multiple capillary hemangiomas, were characteristic enough to permit an accurate preoperative diagnosis. Osseous hemangiomas should feature prominently in any differential diagnosis of multiple hypervascular lesions, as they are common, more so when limited to an anatomical region, irrespective of site or age. (orig.)

  1. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    the intestines, but were also found in the pleura, pericardium, thyroid gland, and kidney. Several patients demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features were variable, and were chiefly characterised, in a typical patient, ...

  2. Congenital Heart Defects

    Science.gov (United States)

    ... of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the ... and heart transplants. The treatment depends on the type of the defect, how ... and general health. NIH: National Heart, Lung, and Blood Institute

  3. Congenital aggressive lipomatosis

    Energy Technology Data Exchange (ETDEWEB)

    Lachmann, R.S.; Mehringer, C.M.; Finklestein, J.; Maenza, R.

    1983-05-01

    Three cases of congenital lipomatosis involving the thoracic region posteriorly are presented delineating the natural history of the disease and depicting underlying bone and soft tissue changes. The rib widening and pleural thickening appear to be related to increased intercostal vascularity feeding the overlying tumor, as delineated by angiography. This entity is not described in the radiologic literature.

  4. Congenital syphilis who risk?

    African Journals Online (AJOL)

    1989-08-05

    Aug 5, 1989 ... The prevalence of syphilis (or positive serology) in pregnant mothers delivering at Baragwanath Hospital, Johannesburg, was assessed in order to try to establish the prevalence of congenital syphilis and possibly to identify a specific popula- tion at risk. From August 1985 to January 1986 all mothers.

  5. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Johnson Francis

    2016-01-01

    Full Text Available Congenital short QT syndrome (SQTS is characterised by extremely short QT intervals, typically with QTc less than 330 ms and a propensity for life threatening ventricular arrhythmias and atrial fibrillation. The QT interval in SQTS does not change significantly with heart rate and the T waves have a narrow base and high voltage, similar to those in hyperkalemia.

  6. Classic congenital adrenal hyperplasia.

    Science.gov (United States)

    Nermoen, Ingrid; Husebye, Eystein S; Myhre, Anne Grethe; Løvås, Kristian

    2017-04-01

    Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.

  7. Adverse childhood experiences in relation to mood and anxiety disorders in a population-based sample of active military personnel.

    Science.gov (United States)

    Sareen, J; Henriksen, C A; Bolton, S L; Afifi, T O; Stein, M B; Asmundson, G J G

    2013-01-01

    Although it has been posited that exposure to adverse childhood experiences (ACEs) increases vulnerability to deployment stress, previous literature in this area has demonstrated conflicting results. Using a cross-sectional population-based sample of active military personnel, the present study examined the relationship between ACEs, deployment related stressors and mood and anxiety disorders. Data were analyzed from the 2002 Canadian Community Health Survey-Canadian Forces Supplement (CCHS-CFS; n = 8340, age 18-54 years, response rate 81%). The following ACEs were self-reported retrospectively: childhood physical abuse, childhood sexual abuse, economic deprivation, exposure to domestic violence, parental divorce/separation, parental substance abuse problems, hospitalization as a child, and apprehension by a child protection service. DSM-IV mood and anxiety disorders [major depressive disorder, post-traumatic stress disorder (PTSD), generalized anxiety disorder (GAD), panic attacks/disorder and social phobia] were assessed using the composite international diagnostic interview (CIDI). Even after adjusting for the effects of deployment-related traumatic exposures (DRTEs), exposure to ACEs was significantly associated with past-year mood or anxiety disorder among men [adjusted odds ratio (aOR) 1.34, 99% confidence interval (CI) 1.03-1.73, p military personnel. Intervention strategies to prevent mental health problems should consider the utility of targeting soldiers with exposure to ACEs.

  8. Becoming more oneself? Changes in personality following DBS treatment for psychiatric disorders: Experiences of OCD patients and general considerations.

    Directory of Open Access Journals (Sweden)

    Sanneke de Haan

    Full Text Available Does DBS change a patient's personality? This is one of the central questions in the debate on the ethics of treatment with Deep Brain Stimulation (DBS. At the moment, however, this important debate is hampered by the fact that there is relatively little data available concerning what patients actually experience following DBS treatment. There are a few qualitative studies with patients with Parkinson's disease and Primary Dystonia and some case reports, but there has been no qualitative study yet with patients suffering from psychiatric disorders. In this paper, we present the experiences of 18 patients with Obsessive-Compulsive Disorder (OCD who are undergoing treatment with DBS. We will also discuss the inherent difficulties of how to define and assess changes in personality, in particular for patients with psychiatric disorders. We end with a discussion of the data and how these shed new light on the conceptual debate about how to define personality.

  9. Becoming more oneself? Changes in personality following DBS treatment for psychiatric disorders: Experiences of OCD patients and general considerations

    Science.gov (United States)

    Rietveld, Erik; Stokhof, Martin; Denys, Damiaan

    2017-01-01

    Does DBS change a patient’s personality? This is one of the central questions in the debate on the ethics of treatment with Deep Brain Stimulation (DBS). At the moment, however, this important debate is hampered by the fact that there is relatively little data available concerning what patients actually experience following DBS treatment. There are a few qualitative studies with patients with Parkinson’s disease and Primary Dystonia and some case reports, but there has been no qualitative study yet with patients suffering from psychiatric disorders. In this paper, we present the experiences of 18 patients with Obsessive-Compulsive Disorder (OCD) who are undergoing treatment with DBS. We will also discuss the inherent difficulties of how to define and assess changes in personality, in particular for patients with psychiatric disorders. We end with a discussion of the data and how these shed new light on the conceptual debate about how to define personality. PMID:28426824

  10. Dysphagia associated with cervical spine and postural disorders.

    Science.gov (United States)

    Papadopoulou, Soultana; Exarchakos, Georgios; Beris, Alexander; Ploumis, Avraam

    2013-12-01

    Difficulties with swallowing may be both persistent and life threatening for the majority of those who experience it irrespective of age, gender, and race. The purpose of this review is to define oropharyngeal dysphagia and describe its relationship to cervical spine disorders and postural disturbances due to either congenital or acquired disorders. The etiology and diagnosis of dysphagia are analyzed, focusing on cervical spine pathology associated with dysphagia as severe cervical spine disorders and postural disturbances largely have been held accountable for deglutition disorders. Scoliosis, kyphosis–lordosis, and osteophytes are the primary focus of this review in an attempt to elucidate the link between cervical spine disorders and dysphagia. It is important for physicians to be knowledgeable about what triggers oropharyngeal dysphagia in cases of cervical spine and postural disorders. Moreover, the optimum treatment for dysphagia, including the use of therapeutic maneuvers during deglutition, neck exercises, and surgical treatment, is discussed.

  11. CARDIOVASCULAR DISORDERS AMONG PERSONS WITH DOWN SYNDROME

    NARCIS (Netherlands)

    Vis, Jeroen C.; van Engelen, Klaartje; Bouma, Berto J.; Bilardo, Catia M.; Blom, Nico A.; Mulder, Barbara J. M.

    2010-01-01

    Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most frequent chromosomal cause of intellectual disability (Frid, Drott, Lundell, Rasmussen, & Anneren, 1999). It is a multisystem disorder, characterized by various congenital defects, organic disorders,

  12. Congenital muscular dystrophy and severe central nervous system atrophy in two siblings

    NARCIS (Netherlands)

    Leyten, Q. H.; Barth, P. G.; Gabreëls, F. J.; Renkawek, K.; Renier, W. O.; Gabreëls-Festen, A. A.; ter Laak, H. J.; Smits, M. G.

    1995-01-01

    Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two female siblings. The clinical profile was characterized by generalized hypotonia followed by

  13. A rare cause of congenital adrenal hyperplasia : Antley-Bixler syndrome due to POR deficiency

    NARCIS (Netherlands)

    Herkert, J. C.; Blaauwwiekel, E. E.; Hoek, A.; Veenstra-Knol, H. E.; Kema, I. P.; Arlt, W.; Kerstens, M. N.

    Cytochrome P(450) oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those

  14. Human syndromes with congenital patellar anomalies and the underlying gene defects.

    NARCIS (Netherlands)

    Bongers, E.M.H.F.; Kampen, A. van; Bokhoven, J.H.L.M. van; Knoers, N.V.A.M.

    2005-01-01

    Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso-ventral patterning, cartilage and

  15. Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    NARCIS (Netherlands)

    Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Koehler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.; Arlt, Wiebke; Smith, M.J.

    Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.

  16. Experiences of Students with Specific Learning Disorder (Including ADHD) in Online College Degree Programs: A Phenomenological Study

    Science.gov (United States)

    Bunch, Seleta LeAnn

    2016-01-01

    Enrollment in online degree programs is rapidly expanding due to the convenience and affordability offered to students and improvements in technology. The purpose of this hermeneutical phenomenological study was to understand the shared experiences of students with documented specific learning disorders (including Attention-Deficit/Hyperactivity…

  17. Being a Girl in a Boys' World: Investigating the Experiences of Girls with Autism Spectrum Disorders during Adolescence

    Science.gov (United States)

    Cridland, Elizabeth K.; Jones, Sandra C.; Caputi, Peter; Magee, Christopher A.

    2014-01-01

    This study investigates the experiences of adolescent girls with autism spectrum disorders (ASD) during adolescence. Semi-structured interviews were conducted with three mother-daughter dyads and two additional mothers. A range of issues were highlighted covering physical, emotional, social and sexual domains. Some of these issues were similar to…

  18. ABA-Based Programs for Children Diagnosed with Autism Spectrum Disorder: Parental and Professional Experiences at School and at Home

    Science.gov (United States)

    Dillenburger, Karola; Keenan, Mickey; Doherty, Alvin; Byrne, Tony; Gallagher, Stephen

    2012-01-01

    Having a child diagnosed with Autism Spectrum Disorder (ASD) poses a range of challenges to families, many of which can be addressed through appropriate intervention. A study of parental (n = 95) and professional (n = 67) experiences was carried out in relation to two settings: (a) schools that provided intensive interventions based on the science…

  19. Adolescent boys with autism spectrum disorder growing up : Follow‑up of self‑reported sexual experience

    NARCIS (Netherlands)

    Dewinter, J.; Vermeiren, R.R.J.M.; Vanwesenbeeck, W.M.A.; van Nieuwenhuizen, Ch.

    2016-01-01

    Systematic research on sexual development in adolescents with autism spectrum disorder (ASD) remains scant, notwithstanding the often-suggested relation between ASD, atypical, and even sexually offensive behaviours. This study compared follow-up data related to lifetime sexual experience (LTSE) in a

  20. Adolescent boys with autism spectrum disorder growing up : follow-up of self-reported sexual experience

    NARCIS (Netherlands)

    Dewinter, J.; Vermeiren, R.; Vanwesenbeeck, W.M.A.; Van Nieuwenhuizen, Ch

    Systematic research on sexual development in adolescents with autism spectrum disorder (ASD) remains scant, notwithstanding the often-suggested relation between ASD, atypical, and even sexually offensive behaviours. This study compared follow-up data related to lifetime sexual experience (LTSE) in a