Results 111 to 120 of about 30,054 (246)

22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report. [PDF]

, 2016
Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ ...
Ben Ali, N., Bouquet de la Joliniere, J., Capoccia Brugger, R., Feki, A., Grant, G.E., Jotterand, M., Vachette, M.   +6 more
core   +1 more source

Ruptured rectal duplication with urogenital abnormality: Unusual presentation

Journal of Indian Association of Pediatric Surgeons, 2015
Rectal duplication (RD) accounts for 5% of alimentary tract duplication. A varied presentation and associated anomalies have been described in the literature. Antenatal rupture of the RD is very rare. We present an unusual case of a ruptured RD associated with urogenital abnormalities in newborn male. We are discussing diagnosis, embryology, management
Shailesh Solanki, M Narendra Babu, Vinay Jadhav, Gowri Shankar, Ramesh Santhanakrishnan   +4 more
openaire   +3 more sources

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Comparison of In Vitro Fertilization Outcomes between Normal and T-Shaped Uteri, Diagnosed by Hysterosalpingography in Women with infertility: A Retrospective Cohort Study [PDF]

International Journal of Fertility and Sterility
Background: T-shaped uterus is a subclass of dysmorphic uteri according to the European Society of Human Reproductionand Embryology (ESHRE) classification. A T-shaped uterus might be related to poor reproductive outcomesor pregnancy complications. We aim
Fattaneh Pahlavan, Shohreh Irani, Mehri Mashayekhi, Samira Vesali, Fatemeh Niknejad, Firoozeh Ahmadi, Narges Bagheri-Lankarani   +6 more
doaj   +1 more source

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations [PDF]

, 2018
Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth ...
A Kikuchi, Alan C Braverman, AN Moosa, Anji Yetman, Anna L Mitchell, Anne Child, Anthony Estrera, AT Yetman, Birgit Lorenz, BL Loeys, Cori Feist, Denver Sallee, Dianna M Milewicz, DJ Schneider, DM Milewicz, Ellen S Regalado, ES Regalado, ES Roach, FM Roulez, Glen Iannucci, Hiroko Morisaki, HU Moller, J de Grazia, J Richer, JL Anderson, John R Ostergaard, Julie De Backer, Julie Richer, Kathryn C Chatfield, Kathryn W Holmes, Lauren Mellor-Crummey, LC Ades, Lesley Ades, LW Fung, M Al-Mohaissen, M Elizabeth Brickner, M Keir, MC Brodsky, ME Meuwissen, MM Georgescu, MR Amans, Mustafa Tekin, NJ Ullrich, P Munot, Patricia Musolino, Paul Mark, Reed Pyeritz, RV Lacro, S Prabhu, Shaine A Morris, Sherene Shalhub, Susan Benedict, T Logeswaran, Takayuki Morisaki, Timothy J Bradley, Y Arlachov   +55 more
core   +3 more sources

Assessment of two minimally invasive methodologies for sex identification in the European eel, Anguilla anguilla

Journal of Fish Biology, EarlyView.
Abstract Sex is an important driver of variation in behaviour, ecology and physiology. Sex identification in the Critically Endangered European eel (Anguilla anguilla) currently requires fish sacrifice, or the use of morphological differences such as body length, which can be inaccurate in certain habitats and at intermediate body lengths.
Michael J. Williamson, Jack A. Brand, Kevin Hopkins, Luke O'Connor, Matthew W. Perkins, Christopher Sergeant, Simon Spiro, Taina Strike, Jessica Whinfield, Rosie S. Williams, Ethan Wrigglesworth, Rosalind M. Wright, Adam T. Piper   +12 more
wiley   +1 more source

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

Catheter‐Associated Urinary Tract Infections in Children: An Evidence‐Informed Narrative Review of Diagnosis, Management and Prevention

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Catheter‐associated urinary tract infections (CAUTI) are a common healthcare‐associated infection in children and a major contributor to increased morbidity, prolonged hospital stays and higher healthcare costs. This narrative review uses an evidence‐informed approach highlighting recent paediatric literature (2000–2025) to provide an overview
Simon P. Paget, Robert McCusker, Suzanne Simpson, Melissa Short, Angela Berkhout   +4 more
wiley   +1 more source

Female counterpart of shawl scrotum in aarskog-scott syndrome

International Brazilian Journal of Urology, 2006
Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris.
Suzana G. Moraes, G. Guerra-Junior, A. T. Maciel-Guerra   +2 more
doaj   +1 more source

Alternate and incidental diagnoses on noncontrast-enhanced spiral computed tomography for acute flank pain. [PDF]

, 2009
Introduction:Our aim was to determine the incidence and spectrum of significant alternate or incidental diagnoses established or suggested on spiral computed tomography (CT) in a large series of Patients with suspected renal colic. Materials and Methods:
Achakzai, Ilyas, Ather, M Hammad, Faizullah, Kulsoom, Irani, Fariah, Siwani, Rizwan   +4 more
core   +2 more sources