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1,336 results for “congenital”
GnRH deficient patients with congenital hypogonadotropic hypogonadism: Novel genetic findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 and POLR3A genes
<p><b>Background: </b>Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by Gonadotropin-Releasing Hormone (GnRH) deficiency. So far a limited number of variants in several genes have been associated with the pathogenesis of the disease. In this original research and review manuscript the retrospective analysis of known variants in <i>ANOS1</i> (<i>KAL1)</i>, <i>RNF216</i>,<i> WDR11</i>,<i> FGFR1</i>,<i> CHD7</i> and <i>POLR3A</i> genes is described, along with novel variants identified in patients with CHH by the present study.</p> <p><b>Methods:</b> Seven GnRH deficient unrelated Cypriot patients underwent whole exome sequencing (WES) by Next Generation Sequencing (NGS). The identified novel variants were initially examined by <i>in silico </i>computational algorithms and structural analysis of their predicted pathogenicity at the protein level was confirmed.</p> <p><b>Results:</b> In four nonrelated GnRH males, a novel X-linked pathogenic variant in <i>ANOS1 </i>gene, two novel autosomal dominant (AD) probably pathogenic variants in <i>WDR11 </i>and <i>FGFR1 </i>genes and one rare AD probably pathogenic variant in <i>CHD7</i> gene were identified. A rare autosomal recessive (AR) variant in the <i>SRA1</i> gene was identified in homozygosity in a female patient, whilst two other male patients were also respectively found to carry novel or previously reported rare pathogenic variants in more than one genes; <i>FGFR1</i>/<i>POLR3A </i>and <i>SRA1/RNF216</i>.</p> <p><b>Conclusion: </b>This report embraces the description of novel and previously reported rare pathogenic variants in a series of genes known to be implicated in the biological development of CHH. Notably, patients with CHH can harbor pathogenic rare variants in more than one gene which raises the hypothesis of locus-locus interactions providing evidence for digenic inheritance. The identification of such aberrations by NGS can be very informative for the management and future planning of these patients.</p>
The power of vision: Calibration of auditory space after sight restoration from congenital cataracts
<p>Early visual deprivation typically also results in impaired spatial cognition in the other sensory modalities (e.g., audition). It has been suggested that this happens because, since vision provides the most accurate spatial information, it is also used as a reference for calibrating space in the other sensory modalities during development. Here we found that sight restoration after several years of early-onset visual deprivation can lead to the development of more accurate and precise auditory space perception. In two experiments we assessed auditory space perception in individuals who suffered from congenital bilateral cataracts and got surgically treated for sight restoration several years after birth.</p>
Skills attained by infants with Congenital Zika Syndrome: Pilot data from Brazil
<p>The recent Zika outbreak and its link to microcephaly and other birth defects in infants exposed in utero have garnered widespread international attention. Based on the severity of birth defects the extent of impairment in these infants is expected to be profound; however, virtually nothing is known regarding the developmental and behavioral sequela of congenital Zika syndrome. This pilot study collected parent-reported patterns of development and sleep in 47 infants with confirmed congenital Zika syndrome who are being followed for clinical services at the Altino Ventura Foundation (FAV) in Recife, Brazil. With assistance from clinicians at FAV, caregivers completed Brazilian Portuguese versions of the Ages and Stages Questionnaire, 3<sup>rd</sup> edition (ASQ-3) and the Brief Infant Sleep Questionnaire (BISQ). All infants were between 13–22 months of age at the time of the assessment. At 16 months of age, none of the children displayed age appropriate developmental skills. Most (~ 75%) mastered some communication and gross motor skills at around a 6–8-month level. Communication and gross motor skills were relative strengths for the sample, while problem-solving and fine motor skills were relative weaknesses. Sleep was noted to be a problem for around 18% of the sample. In utero exposure to the Zika virus will have lifelong consequences for affected children and their families. Understanding the developmental and behavioral trajectories of affected infants will help identify appropriate family supports to improve quality of life.</p>
Functional connectivity in the face of congenital structural changes – a case of homozygous LAMC3 Mutation
<p>Results of diffusion tensor imaging analysis for each participant. These results were summarized in a manuscript titled as " <strong>Functional connectivity in the face of congenital structural changes – a case of homozygous <em>LAMC3</em> Mutation</strong> "</p>
DIAGNOSIS AND RESULTS OF SURGICAL TREATMENT OF CONGENITAL DUODENAL OBSTRUCTION IN NEWBORNS
<p><span>Yangi tug'ilgan chaqaloqlarda o'n ikki barmoqli ichak tutilishini laparoskopik tuzatish bo'yicha birinchi tajriba 2001 yilda taqdim etilgan, ammo jarrohlik tuzatishning afzal usuli haqida hali ham munozaralar mavjud. Maqolada rus pravoslav cherkovi huzuridagi Respublika neonatal jarrohlik o‘quv-davolash va metodik markazida duodeno-duodenoanastomozni qo‘llash bo‘yicha laparoskopik texnologiyani joriy etish tajribasi keltirilgan. 2017-2023-yillar davomida 134 nafar yangi tug‘ilgan chaqaloqlar o‘n ikki barmoqli ichak tutilishi bilan davolandi. Antenatal davrda nuqson 74 (55,2%) holatda aniqlangan, bu bolalar ixtisoslashtirilgan tug'ruqxonada tug'ilgan. Postnatal tashxisni tekshirish qorin bo'shlig'ining oddiy rentgenografiyasi yordamida amalga oshirildi, ammo shubhali holatlarda kontrastli floroskopiya o'tkazildi. Kamchilikni ochiq tuzatish 82 (62,1%) bemorda, laparoskopik - 39 (29,5%), laparoskopiya/konversiya - 11 (8,4%) amalga oshirildi. Operatsiyadan keyingi davrda 34 (25,7%) bemorda turli asoratlar kuzatildi. Anastomoz etishmovchiligi 8 (6%) bemorda sodir bo'ldi. O'lim darajasi 20,4% ni tashkil etdi, lekin bu asosan og'ir birga keladigan patologiyaga bog'liq edi. Shunday qilib, konjenital o'n ikki barmoqli ichak tutilishi bilan og'rigan bemorlar laparoskopik usulda davolangan bo'lsa-da, operatsiya davomiyligi an'anaviy usulga qaraganda uzoqroq edi. Kasalxonada davolanish muddati 1,6 kungacha qisqartirildi, giyohvandlik anesteziyasi 24 soatgacha qisqartirildi va kosmetik effekt yuqori bo'ldi.</span></p> <p><strong><span>Kalit so'zlar:</span></strong><span> Laparoskopik tuzatish, tug'ma o'n ikki barmoqli ichak tutilishi</span></p>
CCBB congenital CMV cohort immune cell subset RNA seq analysis
<p>CCBB congenital CMV cohort immune cell subset RNA seq analysis includes:</p> <p>1) metadata file with sample cell type and CMV infection status</p> <p>2) read counts for FAC-sorted cord blood immune cell subsets</p> <p>3) sample code for bulk RNA seq analysis and data visualization</p>
Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow
ClinicalTrials.gov study NCT01825369. IPD Sharing: Not stated. Countries: 1. Publications: 15.
HIIT in Youth With Congenital Heart Disease (MedBIKE)
ClinicalTrials.gov study NCT04575883. IPD Sharing: NO. Countries: 1. Publications: 1.
Assessing Neurodevelopment in Congenital Heart Disease.
ClinicalTrials.gov study NCT02996630. IPD Sharing: NO. Countries: 1. Publications: 6.
MicrocatheterTrabeculotomy in Primary Congenital Glaucoma
ClinicalTrials.gov study NCT04116450. IPD Sharing: NO. Countries: 1. Publications: 2.
Comparison of the Effectiveness of Face to Face Rehabilitation and Telerehabilitation in Infants With Congenital Muscular Torticollis
ClinicalTrials.gov study NCT06957522. IPD Sharing: NO. Countries: 1. Publications: 4.
Biomarkers in Pediatric Congenital Heart Disease and PAH
ClinicalTrials.gov study NCT04130243. IPD Sharing: NO. Countries: 1. Publications: 24.
Treatment of Congenital Vascular Malformations Using Sirolimus: Improving Quality of Life
ClinicalTrials.gov study NCT03987152. IPD Sharing: NO. Countries: 1. Publications: 1.
Perception-Action Approach vs. Passive Stretching for Infants With Congenital Muscular Torticollis
ClinicalTrials.gov study NCT02824848. IPD Sharing: NO. Countries: 1. Publications: 8.
A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
ClinicalTrials.gov study NCT06630650. IPD Sharing: NO. Countries: 1. Publications: 37.
Dyskinesia, Heterotaxy and Congenital Heart Disease
ClinicalTrials.gov study NCT00608556. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Pharmacokinetics of Tranexamic Acid (TXA) in Children Undergoing Repair of Congenital Heart Defects Utilizing Cardiopulmonary Bypass
ClinicalTrials.gov study NCT01045356. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Myocardial Perfusion and Scarring in Adults With Congenital Heart Disease
ClinicalTrials.gov study NCT02861365. IPD Sharing: YES. Countries: 1. Publications: 3.
Point of Care Ultrasound Measurements of Perioperative Edema in Infants With Congenital Heart Disease
ClinicalTrials.gov study NCT04151160. IPD Sharing: NO. Countries: 1. Publications: 20.
Molecular and Genetic Studies of Congenital Myopathies
ClinicalTrials.gov study NCT00272883. IPD Sharing: Not stated. Countries: 1. Publications: 18.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.