370,510 results match your criteria Congenital Muscular Dystrophy


MAN1B1-CDG: novel patients and novel variant.

J Pediatr Endocrinol Metab 2021 Jun 23. Epub 2021 Jun 23.

Department of Pediatrics, Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

Objectives: Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pattern is associated with defects in glycan assembly and transfer (CDG-I; cytosol; and endoplasmic reticulum defects), a type II pattern is seen in processing defects of the Golgi apparatus. MAN1B1-CDG is an autosomal recessive CDG-II due to mutations in the 1,2-mannosidase gene (MAN1B1), mainly characterized by psychomotor disability, facial dysmorphism, truncal obesity, and hypotonia. Read More

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Apgar Score and Risk of Cerebral Palsy in Preterm Infants: A Population-Based Cohort Study.

Neuropediatrics 2021 Jun 23. Epub 2021 Jun 23.

Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

A low Apgar score is associated with increased risk of cerebral palsy (CP) in term infants, while such association remains controversial in preterm neonates. The objective of this study was to assess association between 5-minute Apgar scores and CP in different subcategories of preterm birth based on gestational age. The Slovenian National Perinatal Information System was used to identify singleton children without congenital malformations live-born at 22 to 37 weeks of gestation between 2002 and 2010. Read More

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

N Engl J Med 2021 Jun;384(25):2406-2417

From the Wellcome Centre for Mitochondrial Research, (J.J.C., M.O., N.M.-L., A.M.S., A.P., R.M., R.W.T.), the Translational and Clinical Research Institute (J.J.C, M.O., T.M.P., A.M.S., A.P., R.M., R.W.T.), and the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children (A.M.S., R.M., R.W.T.), Newcastle University, Newcastle Upon Tyne, and the Institute of Child Health, Department of Molecular Neuroscience, University College London Institute of Neurology (D.Z., M.R.), the Division of Genetics and Molecular Medicine, Guy's Hospital, King's College London School of Medicine (I.A.B.), and the Clinical Genetics Unit, Guy's and St. Thomas' NHS Foundation Trust (C.D.), London - all in the United Kingdom; Institut Universitaire de Recherche Clinique and Laboratoire de Génétique Moléculaire, University of Montpellier and Centre Hospitalier Universitaire (CHU) de Montpellier (C.G., S.S., L.L., M.K.), Departments of Neuroradiology (N.L.) and Pediatric Neurology (P.M., F.R.) and Reference Center for Neuromuscular Diseases Atlantic-Occitania-Caribbean (AOC) (P.M., F.R.), CHU de Montpellier, and Laboratoire de Physiologie et Médecine Expérimentale du Cœur et des Muscles (PhyMedExp), INSERM, CNRS, University of Montpellier (P.M., F.R.), Montpellier, and the Institute for Integrative Biology of the Cell (I2BC), Université Paris-Saclay, Alternative Energies and Atomic Energy Commission (CEA), CNRS Gif-sur-Yvette (F.P.-P., A.D.) - all in France; the Translational Stem Cell Biology and Metabolism Program, Research Programs Unit, and the Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki (F.S., T.G.M.); Radiation Oncology, Albert Einstein College of Medicine, New York (N.M.-L.); the Institute of Medical Genetics, University of Zurich, Zurich, Switzerland (A.B., S.A.-B., A.R.); Hertie Institute for Clinical Brain Research and Center of Neurology, and the German Center for Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany (S.R., L.S., M.S.); the Departments of Genetics (H.S.A., F.S.A.) and Neuroscience (S.A.), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; and the Dr. John T. Macdonald Foundation, Department of Human Genetics, and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami (S.Z.).

Background: Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related () genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy has been associated with a range of complex human diseases, yet congenital autophagy disorders are rare. Read More

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SLC35A2-CDG: novel variants with two ends of the spectrum.

J Pediatr Endocrinol Metab 2021 Jun 21. Epub 2021 Jun 21.

Department of Pediatric Neurology, Ankara, Turkey.

Objectives: Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in the processing of protein bound glycans. Read More

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Suspected vertical transmission of Chagas disease caused by DTU TcIV in an infection probably transmitted orally, during anoutbreak in the Brazilian Amazon.

Rev Inst Med Trop Sao Paulo 2021 18;63:e48. Epub 2021 Jun 18.

Universidade de São Paulo, Faculdade de Medicina, São Paulo, São Paulo, Brazil.

This study describes difficulties in the monitoring of a child born during an oral outbreak of Chagas disease, in which there are several indications that the transmission occurred through the congenital route: 1. the mother was in the third trimester of pregnancy when she was infected; 2. She presented high parasitemia at the time of delivery; 3. Read More

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What are the causes for low birthweight in Japan? A single hospital-based study.

PLoS One 2021 23;16(6):e0253719. Epub 2021 Jun 23.

Department of Obstetrics and Gynaecology, Keio University School of Medicine, Tokyo, Japan.

Low-birthweight (LBW; <2,500 g) babies are at a higher risk of poor educational achievement, disability, and metabolic diseases than normal-birthweight babies in the future. However, reliable data on factors that contribute to LBW have not been considered previously. Therefore, we aimed to examine the distribution of the causes for LBW. Read More

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Burden of Rubella virus infection among females attending tertiary care hospitals of Odisha, India: a need for adult women vaccination.

Hum Vaccin Immunother 2021 Jun 23:1-4. Epub 2021 Jun 23.

Division of Virology, ICMR-Regional Medical Research Centre, Bhubaneswar, India.

Rubella is a contagious disease caused by rubella virus leading to adverse outcomes among pregnant women including abortions, low birth weight, stillbirths and congenital rubella syndrome (CRS) in the baby. If not pregnant, the clinical manifestations are mild and self-limiting. In this hospital based cross-sectional study, 1985 blood samples were collected from females attending outpatient services of various hospitals to serologically detect Rubella infection. Read More

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[Health consequences of tobacco exposure during pregnancy and childhood].

Rev Prat 2021 Mar;71(3):261-263

Université de Paris, Centre de recherche épidémiologique et statistiques (CRESS), Inserm, Inra, Paris, France - Maternité Olympe-de-Gouges, centre hospitalier universitaire de Tours, Tours, France.

Health consequences of tobacco exposure during pregnancy and childhood.In France, about 15% of fetuses are exposed to maternal smoking during pregnancy and about 30% of children are exposed to second-hand tobacco smoke. Furthermore, 20 to 25% of young adults are active smokers. Read More

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Kostmann disease and other forms of severe congenital neutropenia.

Acta Paediatr 2021 Jun 23. Epub 2021 Jun 23.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Congenital neutropenia with autosomal recessive inheritance was first described by the Swedish pediatrician Rolf Kostmann who coined the term 'infantile genetic agranulocytosis'. The condition is now commonly referred to as Kostmann disease. These patients display a maturation arrest of the myelopoiesis in the bone marrow and reduced neutrophil numbers, and suffer from recurrent, often life-threatening infections. Read More

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SIRM-SIC appropriateness criteria for the use of Cardiac Computed Tomography. Part 1: Congenital heart diseases, primary prevention, risk assessment before surgery, suspected CAD in symptomatic patients, plaque and epicardial adipose tissue characterization, and functional assessment of stenosis.

Radiol Med 2021 Jun 23. Epub 2021 Jun 23.

Cardiothoracovascular Department, Azienda Ospedaliero Universitaria Careggi, Florence, Italy.

In the past 20 years, Cardiac Computed Tomography (CCT) has become a pivotal technique for the noninvasive diagnostic work-up of coronary and cardiac diseases. Continuous technical and methodological improvements, combined with fast growing scientific evidence, have progressively expanded the clinical role of CCT. Recent large multicenter randomized clinical trials documented the high prognostic value of CCT and its capability to increase the cost-effectiveness of the management of patients with suspected CAD. Read More

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Abnormal Microarray, Clinical Outcomes, and Surgical Risk Scores in Young Children with Cardiac Disease.

Pediatr Cardiol 2021 Jun 23. Epub 2021 Jun 23.

Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, 225 East Chicago Avenue, Box 21, Chicago, IL, 60611, USA.

The clinical implications of abnormal chromosomal microarray (CMA) remain unclear for children less than 1 year of age with critical heart disease. Our objective was to determine whether abnormal CMA was related to surgical severity scores or to pre-determined clinical outcomes, including cardiac arrest. Retrospective review of children under 1 year of age admitted to a pediatric cardiac intensive care unit from December, 2014 to September, 2017. Read More

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The impact of Covid-19 pandemic related lockdown on clubfoot practice: Type of study design: Retrospective cross-sectional study.

Medicine (Baltimore) 2021 Jun;100(25):e26389

Department of Orthopedics and Traumatology, Ağri Training and Research Hospital, Ağri, Turkey.

Abstract: We investigated whether the number of pediatric patients with congenital clubfoot treated with the Ponseti method decreased during the Covid-19 pandemic or not in a rural area. So we aimed to guide orthopedic surgeons and health infrastructure for future pandemics to be prepared in hospitals of rural areas for the treatment of children with congenital clubfoot.One hundred and fifty-four patients with clubfoot who were admitted to our clinic were evaluated retrospectively from March 2017 to December 2020. Read More

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Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.

J Obstet Gynaecol 2021 Jun 23:1-3. Epub 2021 Jun 23.

Department of OB/GYN, Yale New Haven Health, Bridgeport Hospital, Bridgeport, CT, USA.

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EXPRESS: A Rare Case of Persistent Hyperkalaemia.

Ann Clin Biochem 2021 Jun 23:45632211028614. Epub 2021 Jun 23.

University Hospital of Wales, Medical Biochemistry and Immunology, Cardiff, United Kingdom of Great Britain and Northern Ireland.

Hyperkalaemia is a common biochemical finding that can allude to pre-analytical or truly pathological causes. Here, we present a case of a 41-year-old female patient who has regularly presented with incidences of isolated hyperkalaemia since 2012, with otherwise normal renal function and no other associated symptoms. Investigations into the patientâs family history revealed similar biochemical findings in her brother and eldest son. Read More

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Expansion of the clinical phenotype of GALE deficiency.

Am J Med Genet A 2021 Jun 22. Epub 2021 Jun 22.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Congenital disorders of glycosylation are a group of rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan synthesis and attachment. Here, we present a patient with galactose epimerase deficiency, also known as GALE deficiency, accompanied by pancytopenia and immune dysregulation. She was first identified by an abnormal newborn screen for galactosemia with subsequent genetic evaluation due to pancytopenia and immune dysregulation. Read More

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Bench thrombolysis and "autotransplantation" as a rescue treatment for venous thrombosis after living-donor kidney transplantation.

Pediatr Transplant 2021 Jun 22:e14074. Epub 2021 Jun 22.

Pediatric Surgery, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy.

Background: Allograft venous thrombosis is a severe complication after kidney transplantation (KT). Early diagnosis and prompt treatment are crucial in preserving the survival of the allograft. In this study, we aimed to describe an emergent strategy for the management of acute allograft venous thrombosis. Read More

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MS-based glycomics and glycoproteomics methods enabling isomeric characterization.

Mass Spectrom Rev 2021 Jun 22. Epub 2021 Jun 22.

Department of Chemistry and Biochemistry, Texas Tech University, Lubbock, Texas, USA.

Glycosylation is one of the most significant and abundant posttranslational modifications in mammalian cells. It mediates a wide range of biofunctions, including cell adhesion, cell communication, immune cell trafficking, and protein stability. Also, aberrant glycosylation has been associated with various diseases such as diabetes, Alzheimer's disease, inflammation, immune deficiencies, congenital disorders, and cancers. Read More

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GFMT2: A psychometric measure of face matching ability.

Behav Res Methods 2021 Jun 22. Epub 2021 Jun 22.

Department of Psychology, University of York, York, UK.

We present an expanded version of a widely used measure of unfamiliar face matching ability, the Glasgow Face Matching Test (GFMT). The GFMT2 is created using the same source database as the original test but makes five key improvements. First, the test items include variation in head angle, pose, expression and subject-to-camera distance, making the new test more difficult and more representative of challenges in everyday face identification tasks. Read More

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Necroptosis in biliary atresia of the liver.

Med Mol Morphol 2021 Jun 22. Epub 2021 Jun 22.

Department of Pediatric Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.

Biliary atresia (BA) is characterized by the occlusion of extrahepatic bile ducts due to sclerosing inflammation. Necroptosis is a recently characterized form of programmed cell death but has not been examined in BA. We, therefore, explored the potential involvement of necroptosis in the pathogenesis of BA by evaluating the correlation between necroptosis-related factors and clinicopathological features of BA patients. Read More

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Bronchoscopic interventions for plastic bronchitis in children without structural heart disease.

Eur J Pediatr 2021 Jun 23. Epub 2021 Jun 23.

Division of Pulmonology, Allergy/Immunology, Cystic Fibrosis and Sleep (PACS), Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.

Plastic bronchitis (PB) is a rare and life-threatening complication encountered in several disease states that leads to airway obstruction by branching casts. PB is most often reported in children with cyanotic congenital heart disease where recurrence is common, and mortality is high. There is limited data on optimal management strategies or recurrence of non-structural heart disease-related PB in children. Read More

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Management of Morgagni's Hernia in the Adult Population: A Systematic Review of the Literature.

World J Surg 2021 Jun 22. Epub 2021 Jun 22.

First Department of Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, 17 Agiou Thoma Str., ZIP Code 11527, AthensAthens, Greece.

Background: Morgagni's hernia (MH) is defined by the protrusion of abdominal viscera through an anterior retrosternal diaphragmatic defect. The objective of this study was to systematically review current literature on MHs in adult population and assess their clinical characteristics and therapeutic approach.

Methods: PubMed and Cochrane bibliographical databases were searched (last search: 15 January 2021) for studies concerning MHs. Read More

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Genome sequencing in families with congenital limb malformations.

Hum Genet 2021 Jun 22. Epub 2021 Jun 22.

Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.

The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all genetic variants. Here we aim to determine the diagnostic potential of GS as a comprehensive one-test-for-all strategy in a cohort of undiagnosed patients with congenital limb malformations. Read More

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Efficacy and Safety of Surgical Ligation versus Endovascular Embolization for Type II Congenital Extrahepatic Portosystemic Shunt.

Biomed Res Int 2021 31;2021:9951393. Epub 2021 May 31.

Institution of Oncology, Chinese PLA General Hospital, Beijing 100853, China.

Objective: To evaluate the safety and efficacy of surgical ligation and endovascular embolization for the treatment of type II congenital extrahepatic portosystemic shunt CEPS).

Methods: In this retrospective study, 23 patients diagnosed with type II CEPS between March 2011 and April 2019 were divided into either a surgical group ( = 13; 41.5 ± 19. Read More

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Development of tricuspid regurgitation and right ventricular performance after implantation of centrifugal left ventricular assist devices.

Ann Cardiothorac Surg 2021 May;10(3):364-374

German Heart Center Berlin, Department of Cardiothoracic and Vascular Surgery, Berlin, Germany.

Background: Tricuspid regurgitation (TR) after left ventricular assist device (LVAD) implantation is associated with a poor prognosis. This study evaluates the development of TR and right ventricular (RV) performance after LVAD implantation.

Methods: Retrospective analysis of patients who underwent LVAD implantation between March 2018 and June 2019. Read More

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Management of symptomatic adult penile urethral arteriovenous malformation.

Urol Case Rep 2021 Sep 31;38:101738. Epub 2021 May 31.

Department of Urology, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA.

We present the Case of a 23-year-old male with a history of recurrent spontaneous urethral bleeding due to an arteriovenous malformation (AVM) of his corpus spongiosum which abutted his penile urethra. AVMs are often congenital but can also be related to prior trauma. The literature on male genital AVMs is primarily limited to pediatric AVMs of the scrotum or glans penis with one report of adult urethral AVM in the setting of known trauma. Read More

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September 2021

A Rare Presentation of Acute Respiratory Distress Due to Diffuse Large B-Cell Lymphoma of the Tongue Base.

Cureus 2021 May 19;13(5):e15124. Epub 2021 May 19.

Otolaryngology - Head and Neck Surgery, Henry Ford Health System, Detroit, USA.

Primary diffuse large B-cell lymphoma of the tongue base (BOT) is an extremely rare entity with only a few cases described in the English literature to date. The incidence of BOT non-Hodgkin's lymphoma (NHL) increases with age, most commonly after the sixth decade of life with no observed gender differences. Our patient presented with a six-month history of right neck swelling, one-month history of dysphagia, a change in voice, and ultimately acute airway distress, which led to a tracheostomy. Read More

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Back to basics: a rare and aggressive case of endocarditis.

Oxf Med Case Reports 2021 Jun 18;2021(6):omab043. Epub 2021 Jun 18.

Department of Cardiology, Adult Congenital Heart Centre and National Centre for Pulmonary Hypertension, Royal Brompton & Harefield NHS Trust, National Heart & Lung Institute, Imperial College, London, UK.

We present the case of a 25-year-old with a history of bicuspid aortic valve and ascending aortopathy who was successfully treated for infective endocarditis (IE) due to . His clinical course was complicated by a large aortic root abscess not initially visualised on transthoracic echocardiography or computerised tomography. The cardinal feature of progressive prolongation of the PR interval on serial electrocardiograms was the only sign associated with clinical deterioration and was the trigger for rapid investigation and urgent management. Read More

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Giant Congenital melanocytic nevus with expanded proliferating nodules in a Syrian neonate.

Oxf Med Case Reports 2021 Jun 18;2021(6):omab040. Epub 2021 Jun 18.

Professor of Neonatology, Department of Pediatrics, Tishreen University Hospital, Lattakia, Syria.

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Perforated Meckel's diverticulitis secondary to a corn kernel obstruction of lumen in an elderly patient.

J Surg Case Rep 2021 Jun 17;2021(6):rjab244. Epub 2021 Jun 17.

General Surgery, Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.

Meckel's diverticulum (MD) is the most common congenital malformation of the gastrointestinal tract. The most frequent complications are bleeding, intestinal obstruction, intussusception and neoplasm. Perforation because of diverticulitis is very rare and usually associated to foreign bodies. Read More

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A rare case of limb deficiency syndrome: Gollop WolfGang syndrome.

Radiol Case Rep 2021 Aug 8;16(8):2053-2055. Epub 2021 Jun 8.

Surat Municipal Institute of Medical Education and Research, A-66 Saifee Society,L.H Road, Surat, 395006 India.

Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias that occur as an isolated anomaly or as a part of a syndrome. The term limb deficiency incorporates both absence and size reduction of any of the 120 human limb bones, with around 205 identified abnormalities. Congenital absence of tibia is a rare and severe lower limb malformation with an incidence of approximately 1:1,000,000 live births. Read More

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