About 35,115 results

Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic var...
BMC Ophthalmology; Zhou L, Xu Z et. al.

Sep 25th, 2022 - PITX3 has been reported to be associated with congenital cataracts, anterior segment mesenchymal dysgenesis, Peters' anomaly, and microphthalmia. In this case, an infant with unilateral buphthalmos, corneal staphyloma and corneal fistula carrying a variant in PITX3 was reported. We describe a 4-month-old female infant who was referred to our Eye Clinic because of gradual enlargement of the eyeb...

The usefulness, reliability, and quality of YouTube video clips on congenital muscular ...
Medicine Jeong KY, Lee HJ et. al.

Sep 21st, 2022 - This study aimed to evaluate the usefulness, reliability, quality, and related characteristics of YouTube video clips on congenital muscular torticollis (CMT). This cross-sectional study analyzed 47 YouTube video clips on CMT. They were classified as either useful or misleading by 2 rehabilitation doctors. The modified DISCERN tool and the Global Quality Scale (GQS) were used to evaluate their ...

A Pigmented Nodule on Congenital Melanocytic Nevus: Challenge.
The American Journal of Dermatopathology; Sabater-Marco V, Cerveró LN et. al.

Sep 20th, 2022 - A Pigmented Nodule on Congenital Melanocytic Nevus: Challenge.|2022|Sabater-Marco V,Cerveró LN,Losada LO,López NS,|congenital,diagnosis,congenital,diagnosis,

A Pigmented Nodule on Congenital Melanocytic Nevus: Answer.
The American Journal of Dermatopathology; Sabater-Marco V, Cerveró LN et. al.

Sep 20th, 2022 - A Pigmented Nodule on Congenital Melanocytic Nevus: Answer.|2022|Sabater-Marco V,Cerveró LN,Losada LO,López NS,|congenital,diagnosis,congenital,diagnosis,

The Olfactory Nerve: Anatomy and Pathology.
Seminars in Ultrasound, CT, and MR; Ottaiano AC, Freddi TAL et. al.

Sep 19th, 2022 - The human sense of smell is the unique sense through which the olfactory system can identify aromatic molecules within the air and provide a taste sensation. Still, also it plays an essential role in several other functions, warning about environmental safety and even impacts our emotional lives. Recently, olfactory impairment has become an issue of interest due to the COVID-19 pandemic. The dy...

The Oculomotor Nerve: Anatomy and Pathology.
Seminars in Ultrasound, CT, and MR; Corrêa DG, Hygino da Cruz LC et. al.

Sep 19th, 2022 - The oculomotor nerve is the third cranial nerve, exiting the brainstem in the medial border of the cerebral peduncle, from where it crosses straight to the superior orbital fissure. It is a purely motor nerve responsible for the innervation of all the extraocular muscles, except the superior oblique and lateral rectus muscles. It also has parasympathetic pre-ganglionic fibers, responsible for t...

Intelligibility of speech produced by sighted and blind adults.
PloS One; Ménard L, Trudeau-Fisette P et. al.

Sep 16th, 2022 - It is well known that speech uses both the auditory and visual modalities to convey information. In cases of congenital sensory deprivation, the feedback language learners have access to for mapping visible and invisible orofacial articulation is impoverished. Although the effects of blindness on the movements of the lips, jaw, and tongue have been documented in francophone adults, not much is ...

Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Journal of the American Heart Association; Yee LA, Han HC et. al.

Sep 15th, 2022 - Background Diagnosis of congenital long-QT syndrome (LQTS) is complicated by phenotypic ambiguity, with a frequent normal-to-borderline resting QT interval. A 3-step algorithm based on exercise response of the corrected QT interval (QTc) was previously developed to diagnose patients with LQTS and predict subtype. This study evaluated the 3-step algorithm in a population that is more representat...

Psychosocial impacts of spontaneous coronary artery dissection: A qualitative study.
PloS One; Murphy BM, Rogerson MC et. al.

Sep 7th, 2022 - Spontaneous coronary artery dissection (SCAD) is an increasingly recognised cause of acute myocardial infarction, particularly in younger women without classic cardiac risk factors. While recent quantitative studies have noted high anxiety and depression in SCAD survivors, the full range and extent of psychosocial impacts of SCAD is unknown. The present study used a qualitative approach to inve...

A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese...
Disease Markers; Mei S, Lin J et. al.

Sep 6th, 2022 - Congenital cataract is the most important global cause of visual impairment in children. Autosomal dominant and autosomal recessive inheritance account for the majority of the hereditary nonsyndromic congenital cataract. The function of FYCO1 gene is to guide the transport of the microtubule-directed vesicles. Mutations in the FYCO1 gene may cause cataracts. We reported a novel nonsense mutatio...

Assessment of Congenital Cytomegalovirus Prevalence Among Newborns in Minnesota During ...
JAMA Network Open; Schleiss MR, Rosendahl S et. al.

Sep 3rd, 2022 - Assessment of Congenital Cytomegalovirus Prevalence Among Newborns in Minnesota During the COVID-19 Pandemic.|2022|Schleiss MR,Rosendahl S,McCann M,Dollard SC,Lanzieri TM,|epidemiology,congenital,diagnosis,epidemiology,epidemiology,

Laparoscopic versus open repair of congenital duodenal obstruction: a systematic review...
Pediatric Surgery International; Zhang J, Xu X et. al.

Sep 3rd, 2022 - To assess the safety and efficacy of laparoscopic versus open repair of congenital duodenal obstruction (CDO), we conducted a systematic review and meta-analysis (CDO). A literature search was conducted to identify studies that compared laparoscopic surgery (LS) and open surgery (OS) for neonates with CDO. Meta-analysis was used to pool and compare variables such as operative time, time to feed...

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations ...
BMC Musculoskeletal Disorders; Kausar M, Ain NU et. al.

Aug 31st, 2022 - Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been reported in a small number of patients with recessively inherited spondyloepiphyseal dysplasia with joint dislocation, short stature and scoliosis. We report here molecular and clinical findings of affected individuals in three con...

Developmental disorders affecting the respiratory system: CCHS and ROHHAD.
Handbook of Clinical Neurology; Ceccherini I, Kurek KC et. al.

Aug 29th, 2022 - Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) and Congenital Central Hypoventilation Syndrome (CCHS) are ultra-rare distinct clinical disorders with overlapping symptoms including altered respiratory control and autonomic regulation. Although both disorders have been considered for decades to be on the same spectrum with necessity of ar...

Rescue ross procedure and mitral valve repair on a low birth weight preterm neonate.
Journal of Cardiac Surgery; Garufi L, di Candia A et. al.

Aug 23rd, 2022 - Although mid- and long-term outcomes after the Ross procedure for aortic valve disease have been increasingly improving over the years, this is still a rather challenging operation in neonates and small children. This is particularly true for patients with associated congenital heart defects and critical clinical conditions. Herein we describe the application of this procedure as a rescue opera...

Juvenile polyposis syndrome: An overview.
Best Practice & Research. Clinical Gastroenterology; Dal Buono A, Gaiani F et. al.

Aug 22nd, 2022 - Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. The inheritance pattern is autosomal dominant. JPS should be clinically suspected when the other hamartomatous polyposis syndromes are excluded (i.e., Peutz- Jeghers and Cowden), in presence of numerous juvenile polyps in the colorectum or in other GI locatio...

Juvenile polyposis: Focus on less described manifestations.
Best Practice & Research. Clinical Gastroenterology; Saurin JC, Calavas L et. al.

Aug 22nd, 2022 - Juvenile polyposis represents an heterogeneous disease as different genetic dominant backgrounds have been evidenced leading to different clinical presentations. It is associated in some patients with a different syndrome, Hereditary Hemorragic Telangiectasia, justifying a complementary and different management. Recent international recommendations help in managing this very rare disease, and t...

A heart of iron: juvenile haemochromatosis presents with cardiac failure.
Lancet (London, England); Cartella I, Tavecchia GA et. al.

Aug 22nd, 2022 - A heart of iron: juvenile haemochromatosis presents with cardiac failure.|2022|Cartella I,Tavecchia GA,Quattrocchi G,Giannattasio C,Volpato E,|etiology,complications,congenital,diagnosis,therapeutic use,

Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-defi...
Neuromuscular Disorders : NMD; Nouri Z, Sarmadi A et. al.

Aug 22nd, 2022 - Muscular dystrophy (MD) is a group of multiple muscle diseases, which causes severely impaired motor ability, degeneration and dysfunctions in the musculoskeletal system, respiratory failure and feeding difficulties. LAMA2-related MD is caused by pathogenic variants in the LAMA2 gene, encoding laminin a2 chain, a component of the skeletal muscle extracellular matrix protein laminin-α2β1γ1. We p...

Congenital cytomegalovirus infection diagnostics and management.
Current Opinion in Infectious Diseases; Pinninti S, Boppana S

Aug 20th, 2022 - Congenital cytomegalovirus infection (cCMV) is the most frequent congenital infection and a leading nongenetic cause of sensorineural hearing loss (SNHL) and brain disease. The purpose of this review is to highlight recent developments in the diagnosis and management of children with cCMV. Progress is being made in the efforts to identify more infants with cCMV, especially those with asymptomat...