Results 81 to 90 of about 1,414 (228)

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey, Dawn Gano, Danielle Boyce, Rachel Vassar   +3 more
wiley   +1 more source

Síndrome de las bandas amnióticas estudio anatomopatológico genético y por imagen de un caso

Acta Biológica Colombiana, 2001
El presente trabajo tiene por objeto, caracterizar un posible caso del Síndrome de bandasamnióticas mediante un estudio Anatomopatológico, Genético y por imagen.
LA. Casomurillo, S. Mayorga, N. Dorado, JA. Dorado, F. Medina, LG. Celis   +5 more
doaj  

Testicular torsion in foals and stallions

Equine Veterinary Education, EarlyView.
Summary Testicular torsion is a rare condition in horses characterised by a change in the position of the testis due to the testicular mesentery twisting around its own axis; it can occur both when the testis is still in the abdominal cavity and when it has descended into the scrotum.
C. P. Bartmann
wiley   +1 more source

Secuencia de displasia caudal: Estudio clínico y radiológico de un paciente

Salud Uninorte, 2012
La secuencia de displasia caudal (SDC), denominada también síndrome de regresión caudal y síndrome de agenesia sacra, es una malformación congénita poco frecuente, que incluye principalmente agenesia con extensión variable de cuerpos vertebrales distales
Andrés Arévalo Hernández, Andrea Cortés Fernández, Andrés Álvarez Velásquez, Pilar Garavito, Jorge Ordóñez, Alberto Latorre, Carlos Silvera-Redondo   +6 more
doaj  

Agenesia Pulmonar [PDF]

Revista chilena de pediatría, 1983
Calvo G, Mario, Krause H, Sergio, Horzella R, Roberto, Sanchez H, Alfonso, Jiménez P, Patricio   +4 more
openaire   +2 more sources

Agenesia de cólon

Revista Brasileira de Pesquisa em Saúde/Brazilian Journal of Health Research
Introdução: As anomalias congênitas do trato intestinal baixo são importantes causas de morbidade em neonatos, cursando inicialmente com quadro clínico e radiográfico que sugere obstrução intestinal. A síndrome do colón curto congênito, a atresia cólica e a Doença de Hirschsprung, possuem mais relatos descritos, enquanto a agenesia do cólon é mais rara,
Anna Júlia Del Piero Marques Gomes, Ronaldo Rogerio de Souza, Ricardo Andrade Fernandes de Mello, Bernardo Oliveira Pacheco   +3 more
openaire   +1 more source

Functional Independence Related to Oral Hygiene and Periodontal Status in Patients With Down Syndrome

International Journal of Dental Hygiene, EarlyView.
ABSTRACT Objectives This study aimed to investigate the relationship between functional independence, oral hygiene habits and periodontal status in patients with Down syndrome (DS). Methods A cross‐sectional observational study was conducted with 49 patients with Down Syndrome. Sociodemographic data, oral hygiene habits and functional independence were
Joana Albuquerque Bastos de Sousa, Kátia Maria Martins Veloso, Monique Maria Melo Mouchrek, Mayra Moura Franco, Cecilia Claudia Costa Ribeiro, Vandilson Pinheiro Rodrigues, Bruno Braga Benatti   +6 more
wiley   +1 more source