Results 141 to 150 of about 306,770 (339)

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, EarlyView.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Dynamics of changes in bacteriological and morphometric parameters at decreasing colonization resistance of bird intestine

RUDN Journal of Agronomy and Animal Industries
Decrease in compensatory mechanisms of natural resistance due to changes in composition of evolutionarily formed microbiocenoses, increases risks of developing a syndrome of excessive growth of antibiotic-resistant microorganisms.
Ekaterina M. Lenchenko, Vladislav V. Ponomarev   +1 more
doaj   +1 more source

Autophagy in granular corneal dystrophy type 2

, 2015
Seung‐il Choi, Eung Kweon Kim
openalex   +2 more sources

Large, Spontaneous Macular Hole with Posterior Pole Detachment in a Patient with Best Vitelliform Macular Dystrophy [PDF]

, 2019
Shamfa Peart, Amoy Ramsay, Qazi Assad Khan, Tony Leong, Patel Gordon-Bennett   +4 more
openalex   +1 more source

Psychological and behavioral correlates of health anxiety and other anxiety phenomena in adolescence—A cross‐sectional study in the Copenhagen Child Cohort 2000

JCPP Advances, EarlyView.
Abstract Background Health anxiety (HA) is characterized by impairing worry about being or becoming seriously ill. This cross‐sectional study aimed to explore psychological and behavioral correlates of HA compared to other anxiety phenomena in adolescents, that is, with respect to depression, physical symptoms, bodily dissatisfaction, health‐related ...
Charlotte Steen Duholm, Davíð R. M. A. Højgaard, Kaare Bro Wellnitz, Eva Ørnbøl, Per Hove Thomsen, Martin Køster Rimvall, Charlotte Ulrikka Rask   +6 more
wiley   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Analysis of the effectiveness of radio waves and high-energy surgical laser in the therapy of degenerative diseases of the vulva

Кубанский научный медицинский вестник, 2016
Today the most prominent results of lichen sclerosis treatment has been accumulated by laser application, as it is this type of surgical energy that has been widely used to treat vulvae pathology.
E. L. Simakova, I. V. Sahautdinova
doaj  

Evaluation of a serum protein signature as monitoring biomarker for Duchenne Muscular Dystrophy in a long-term clinical trial with corticosteroids [PDF]

C. Degan, Rebecca Tobin, Sharon de Vries, Albert Jiménez-Requena, Amela Peco, Michela Guglieri, Jordi Diaz-Manera, Y. Van Der Burgt, Bart J. M. Vlijmen, FOR-DMD investigators of the Muscle Study Group, Yetrib Hathout, Cristina Al-Khalili Szigyarto, Utkarsh J. Dang, Roula Tsonaka, Pietro Spitali   +14 more
openalex   +1 more source

Approach to Nail Pitting in Pediatric and Adolescent Patients: A Dermatology Perspective

JEADV Clinical Practice, EarlyView.
ABSTRACT This narrative review aims to discuss the etiologies of nail pitting in pediatric and adolescent patients, while providing a framework for further evaluation of possible underlying systemic conditions and their clinical findings from a dermatologic standpoint.
Elizabeth Botto, Victoria Griffith, Samuel Stahly, Jere Mammino   +3 more
wiley   +1 more source