Congenitally blind

No abstract text is available yet for this article.

No abstract text is available yet for this article.

OBJECTIVES: Predicting whether balloon atrial septostomy (BAS) will be necessary after birth for fetuses with d-transposition of the great arteries (d-TGA) remains challenging. We sought to determine whether measurements obtained during fetal maternal hyperoxygenation (MH) testing can improve our ability to predict need for postnatal BAS. METHODS: Forty-one mothers carrying fetuses with d-TGA with either intact ventricular septum or small ventricular septal defect measuring <3mm underwent MH testing between 33-38 weeks gestation...

UNLABELLED: Osteoporosis-pseudoglioma syndrome (OPPG) and LRP5 high bone mass (LRP5-HBM) are two rare bone diseases with opposite clinical symptoms caused by loss-of-function and gain-of-function mutations in LRP5. Bisphosphonates are an effective treatment for OPPG patients. LRP5-HBM has a benign course, and age-related bone loss is found in one LRP5-HBM patient. PURPOSE: Low-density lipoprotein receptor-related protein 5 (LRP5) is involved in the canonical Wnt signaling pathway...

Mayer-Rokitansky-Kuster-Hauser syndrome also known as mullerian agenesis is a rare congenital condition in which there is absence of uterus along with upper vagina. Patient usually presents with primary amenorrhea with or without cyclical lower abdominal pain but have normal secondary sexual characters. Modified McIndoe Vaginoplasty with amnion graft is the commonest surgery performed worldwide. A 23 year old girl with normal secondary sexual characters presented with primary amenorrhea with cyclical lower abdominal pain; on examination blind vagina was present...

BACKGROUND: While research indicates comparable quality of life (QOL) in congenital diaphragmatic hernia (CDH) and healthy populations, the effect of CDH severity on patients' health perceptions remains unexplored. We aimed to assess QOL perception in CDH, hypothesising a decline correlated with increased disease severity. METHODS: In this prospective observational study, we analysed patients with CDH aged 5 years and above participating in a longitudinal outpatient programme...

BACKGROUNDDiagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age. Site-specific changes in protein N-glycosylation have not been reported in sera in PMM2-CDG.METHODSUsing multistep mass spectrometry-based N-glycoproteomics, we analyzed sera from 72 individuals to discover and validate glycopeptide alterations. We performed comprehensive tandem mass tag-based discovery experiments in well-characterized patients and controls...

Shape is a property that could be perceived by vision and touch, and is classically considered to be supramodal. While there is mounting evidence for the shared cognitive and neural representation space between visual and tactile shape, previous research tended to rely on dissimilarity structures between objects and had not examined the detailed properties of shape representation in the absence of vision. To address this gap, we conducted three explicit object shape knowledge production experiments with congenitally blind and sighted participants, who were asked to produce verbal features, 3D clay models, and 2D drawings of familiar objects with varying levels of tactile exposure, including tools, large nonmanipulable objects, and animals...

BACKGROUND Meckel's diverticulum is a congenital remnant of the omphalomesenteric duct and is the most common congenital gastrointestinal malformation. Most patients are asymptomatic, but a rare presentation is with subacute small bowel obstruction (SBO) due to herniation of bowel loops through an internal hernia formed by the Meckel's diverticulum and adjacent mesentery that forms an internal hernia. This report is of a 15-year-old girl presenting as an emergency with vomiting and small bowel obstruction due to an internal hernia associated with Meckel's diverticulum...

If a congenitally blind person learns to distinguish between a cube and a sphere by touch, would they immediately recognize these objects by sight once their vision is restored? This question, posed by Molyneux in 1688, has puzzled philosophers and scientists since then. To overcome ethical and practical difficulties in the investigation of cross-modal recognition, we studied inexperienced poultry chicks, which can be reared in darkness until the moment of a visual test with no detrimental consequences. After hatching chicks in darkness, we exposed them to either tactile smooth or tactile bumpy stimuli for 24 h...

BACKGROUND: Congenital cataract is a common cause of blindness. Genetic factors always play important role. MATERIAL AND METHODS: This study identified a novel missense variant (c.1412C>T (p.P471L)) in the EZR gene in a four-generation Chinese family with nuclear cataract by linkage analysis and whole-exome sequencing. A knockout study in zebrafish using transcription activator-like effector nucleases was carried out to gain insight into candidate gene function...

Face recognition is important for both visual and social cognition. While prosopagnosia or face blindness has been known for seven decades and face specific neurons for half a century, the molecular genetic mechanism is not clear. Here we report results after 17 years of research with classic genetics and modern genomics. From a large family with 18 congenital prosopagnosia (CP) members with obvious difficulties in face recognition in daily life, we uncovered a fully cosegregating private mutation in the MCTP2 gene which encodes a calcium binding transmembrane protein expressed in the brain...

There is a higher incidence of diagnosed Autism Spectrum Disorder (ASD) in children with visual impairment and blindness (VIB) than in typically sighted children. However, we currently lack appropriate assessment measures to fully understand the neurodevelopment of children with VIB. Numerous factors, such as common characteristics between children with VIB and ASD and the reliance of visual behaviours in assessments of ASD, complicate the clinical and diagnostic understanding of these children. This scoping review aims to describe the published knowledge on ASD assessment in children with VIB...

Genetic diseases affecting the retina can result in partial or complete loss of visual function. Leber's Congenital Amaurosis (LCA) is a rare blinding disease, usually inherited in an autosomally recessive manner, with no cure. Retinal gene therapy has been shown to improve vision in LCA patients caused by mutations in the RPE65 gene (LCA2). However, little is known about how activity in central visual pathways is affected by the disease or by subsequent gene therapy. Functional MRI was used to assess retinal signal transmission in cortical and subcortical visual structures before and one year after retinal intervention...

BACKGROUND: This study focuses on biomarkers in infants after open heart surgery, and examines the association of high-sensitive troponin T (hs-cTnT), interleukin-6 (IL-6), and interleukin-8 (IL-8) with postoperative acute kidney injury (AKI), ventilatory support time and need of vasoactive drugs. METHODS: Secondary exploratory study from a double-blinded clinical randomized trial (Mile-1) on 70 infants undergoing open heart surgery with cardiopulmonary bypass (CPB)...

OBJECTIVE: To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure. DESIGN: Retrospective, longitudinal, single center case series. PARTICIPANTS: 122 patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom. METHODS: All case notes, results of molecular genetic testing, and optical coherence tomography (OCT) were reviewed...

OBJECTIVE: This study aimed to delineate the recovery patterns of regional oxygen saturation (SrO2 ) in pediatric cardiac surgery patients subjected to remote ischemic preconditioning (RIPC), utilizing near-infrared spectroscopy (NIRS) for quantification. It also sought to establish the correlation between these perfusion patterns and postoperative clinical outcomes. DESIGN: A prospective longitudinal observational study. SETTING: The study was conducted at (BLINDED FOR REVIEW), a high-complexity service provider institution in (BLINDED FOR REVIEW)...

OBJECTIVE: To investigate an alternative approach to family participatory nursing in neonatal intensive care units (NICUs) during the COVID-19 pandemic, focusing on auditory interventions to mitigate the effects of maternal separation (MS) on neonatal neurological development. METHODS: This study was a randomized, double-blind, prospective trial involving 100 newborns younger than 6 months old, born between January 2022 and October 2022, who experienced MS for more than 2 weeks...

BACKGROUND: Dynamic stability is a fundamental goal in standing activities. In this regard, monitoring, analysis, and interventions made to improve stability is a research topic investigated in the biomechanics of human movements. Vision has a major role to play in controlling human movement. Nonetheless, little is known about the effects of visual deprivation, especially from birth on dynamic gait stability. METHODS: The current study was conducted on 20 congenital blind and 10 sighted people (15-38 years)...

Retinal dystrophies linked to the RPE65 gene are mostly fast-progressing retinal diseases, with childhood onset of night blindness and progressive visual loss up to the middle adult age. Rare phenotypes linked to this gene are known with congenital stationary night blindness or slowly progressing retinitis pigmentosa, as well as an autosomal dominant c.1430A>G (p.Asp477Gly) variant. This review gives an overview of the current knowledge of the clinical phenotypes, as well as experience with the efficacy and safety of the approved gene augmentation therapy voretigene neparvovec...