Congenital Disorders
Biochemical and genetic investigations on patients with congenital disorders of glycosylation
... A defect in the iV-glycosylation of human serum and cerebro-spinal fluid transferrin, first reported by Jaeken et al in 1980 led to the discovery of a number of human diseases collectively designated as the ...
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Occurrence of congenital disorders in Swiss sheep
... many congenital disorders have a genetic ...genetic disorders in sheep are atresia ani, arthrogryposis, brachygnathia, chondrodysplasia, cleft palate, cryptorchidism, entropion, hernia, and ...
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Congenital disorders in the cattle population of the Czech Republic
... analyse congenital disorders in the Czech cattle population in ...with congenital disorders which were unevenly distributed because only 18 occurred in the progeny of 10 and more sires, in ...
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Public and patient involvement in needs assessment and social innovation: a people centred approach to care and research for congenital disorders of glycosylation
... Public and patient involvement is a fundamental element in implementing patient-oriented research and improving the design and provision of people-centred care [1–3]. By enabling lay and expert knowledge to come to the ...
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A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action
... or congenital malformation, and nearly 3 million children under the age of 5 years die from one of these ...ranked congenital disorders as one of the leading causes of deaths and disability-adjusted ...
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Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
... Congenital disorders comprise conditions present at birth or those that developed during infancy or early ...neuromuscular disorders, developmental delay, and intel- lectual disability which ...
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Our Experience with Diagnostics of Congenital Disorders of Glycosylation
... Summary: The aim of this study is to report our 3years experience with the screening of congenital disorders of glyco- sylation. A common isoelectric focusing method with immunofixation was used for ...
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Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation
... CDGs: Congenital disorders of glycosylation; CGCs: Cerebellar granule cells; CNs: Cortical neurons; ER: Endoplasmic reticulum; PBS: Phosphate Buffered Saline; PMM2: Phosphomannomutase 2;[r] ...
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Neuroembryology and congenital disorders of the nervous system: A primer for medical students
... dysinnervation disorders include several similar conditions such as Duane retraction syndrome, hereditary congenital facial paresis, Mobius syndrome, congenital blepharoptosis and congenital ...
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
... Maternal uniparental disomy of chromosome 20 (upd(20)mat) has been reported in 12 patients [70], 3 of whom also had mosaicism for complete or partial tri- somy of chromosome 20. All patients with upd(20)mat had ...
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PRC2 functions in development and congenital disorders
... Considering the convergence of PRC2-mediated H3K27me2, NSD1- mediated H3K36me2 and DNMT3A-mediated DNA methylation at intergenic chromatin, we propose that an equilibrium exists between these modifications and that a ...
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CONGENITAL DISORDERS OF THE MECHANISM FOR COAGULATION OF BLOOD
... Gen. tplnprothrombin times employing tissue thromboplastin, Russell Viper Venom, and plasma thromboplastin;’7 Ser. T=serum prothrombin time; Prot. =thromboplastin generation test,. +Bapl[r] ...
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<p>Prospects of genetic testing for steroid-resistant nephrotic syndrome in Nigerian children: a narrative review of challenges and opportunities</p>
... CDG, congenital disorders of glycosylation; CNS, congenital nephrotic syndrome; DMS, diffuse mesangial sclerosis; ESRD, end-stage renal disease; FSGS, focal segmental glomerulosclerosis; GBM, ...
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Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation
... or congenital vascular malformations. Con- genital disorders of glycosylation are a genetically and clinically heterogeneous group of multisystem disorders characterized by the abnormal glycosylation ...
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A clinical study of patients attending disability clinic in a tertiary care hospital of Assam, India
... The most frequent anomaly observed in the age group of 0-10 years is microphthalmos, uveal coloboma in 11-20 years, phthisis bulbi in 21-30 years, corneal opacity in 31-40 years, optic atrophy in 41-50 years, ...
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Newborn Screening Fact Sheets
... following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital ...
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Review Article Guidelines on the laboratory diagnosis of congenital bleeding disorders in Pakistan
... bleeding disorders are found in all racial groups and are present ...bleeding disorders can be complex, and no single diagnostic tests are suitable for all ...bleeding disorders and classification, ...
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Congenital adrenal hyperplasia patient perception of ‘disorders of sex development’ nomenclature
... Dr. Dix P. Poppas, M.D. is Professor and Chief of the Institute for Pediatric Urology at the Komansky Center for Children ’ s Health of New York -Presbyterian Hosptial Weill Cornell Medical Center. He is the Richard ...
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Identification of Key Proteins Involved in Axon Guidance Related Disorders: A Systems Biology Approach
... The keywords “Duane Retraction Syndrome”, “HGPS”, and “Congenital fibrosis of the extraocular muscles type 3” were used to screen out the genes associated with them from 3 databases and the results were put ...
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Incidence and Clinicopathological features of Neurocutaneous Disorders.
... Neurocutaneous melanosis is defined by the presence of neurologic symptoms and increased number of melanocytes in central nervous system combined with the presence of large cutaneous naevus. A giant congenital ...
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