Results 91 to 100 of about 12,857 (288)
Interrater reliability in pediatric high‐resolution anorectal manometry recordings
Journal of Pediatric Gastroenterology and Nutrition, EarlyView.Abstract Objectives High‐resolution anorectal manometry (HR‐ARM) is a diagnostic test assessing anorectal neuromuscular function in children with constipation and/or fecal incontinence. Interrater reliability of HR‐ARM in children has not been previously studied. The aim of this study was to assess the interrater reliability of pediatric HR‐ARM studies.
Julia M. J. van der Zande +12 more
wiley +1 more source
Hipotiroidismo congénito: Evaluación del programa de screening neonatal [PDF]
, 2016 En los últimos 25 años del siglo XX, los avances tecnológicos permitieron cambiar de forma drástica -en los países industrializados-, el momento diagnóstico, el comienzo del tratamiento substitutivo y el pronóstico intelectual de los hipotiroideos ...
Cañas Perea, Francisco Javier
core
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 +7 more
wiley +1 more source
Tomografia computadorizada na agenesia do corpo caloso: achados em 27 casos
Arquivos de Neuro-Psiquiatria, 1998 Foi realizado estudo retrospectivo de tomografia computadorizada em 27 pacientes com anormalidades anatômicas definidas como agenesia total do corpo caloso, afastando-se os casos de agenesia parcial.
MINGUETTI GUILBERTO +2 more
doaj
Valutazione delle anomalie dentarie in soggetti con differenti tipi di schisi orofacciali [PDF]
, 2017 Background and aim: Subjects with nonsyndromic cleft lip and/or palate (CLP) present high frequency of hypodontia, both inside and outside the cleft region, which may represent a complicating factor for the dental management.
Uomo, Roberto
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel +17 more
wiley +1 more source
Arquivos de Neuro-Psiquiatria, 1988 É apresentado um caso autopsiado de agenesia do cerebelo associada a microcefalia, agiria e deformidades das extremidades e pavilhões auriculares, associação esta até então não relatada na literatura. Este é o sétimo caso de agenesia cerebelar registrado
José Eymard Homem Pittella +1 more
doaj +1 more source
Estudio de la Frecuencia del Músculo Palmar Largo en Individuos Chilenos [PDF]
, 2011 Alves, N (reprint author), Univ Talca, Fac Ciencias Salud, Dept Ciencias Basicas & Biomed, Ave Lircay S-N, Talca, ChileThe palmaris longus muscle (PLM) lies on the anterior region of the forearm, it is considered one of the most variable muscles in the ...
Alves, N., Deana, N.F., Ramirez, D.
core
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Revista Universitas Medica, 2010 La agenesia pulmonar es una alteración poco frecuente, con predominio en el sexo femenino y sin preferencia por la lateralidad. Reportamos el caso de un recién nacido masculino con diagnóstico prenatal de hernia diafragmática.
MERCEDES OLAYA +3 more
doaj