Results 71 to 80 of about 37,403 (228)

Internal Carotid Artery Hypoplasia Misidentified as Internal Carotid Artery Dissection

Methodist DeBakey Cardiovascular Journal
Agenesis or hypoplasia of the internal carotid artery (ICA) may easily be confused with dissection or occlusion. We report a case of a 24-year-old female with complaint of acute left-hand hypoesthesia and a history of occasional intermittent numbness of ...
Esther Collado, Adam Bardoczi, Alan B. Lumsden, Zsolt Garami   +3 more
doaj   +1 more source

A rare case of agenesis of dorsal pancreas

National Journal of Clinical Anatomy, 2012
Agenesis of dorsal bud of the pancreas is an extremely rare congenital anomaly which results in absence of neck, body and tail of the adult pancreas. It may be associated with number of clinical features like diabetes mellitus, abdominal pain and chronic
Devi D Jansirani, S Shiva deep, S Deepak Barathi   +2 more
doaj   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 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

A possible role of GDNF expression by which cabergoline use affects corpus callosum

Journal of Pediatric and Neonatal Individualized Medicine, 2018
A variety of malformations have been associated with cabergoline use during gestation. Recently we had a preterm male infant referred to our Neonatal Intensive Care Unit diagnosed with corpus callosum agenesis confirmed by brain ultrasound and brain ...
Georgios Mitsiakos, Anastasia Gkampeta
doaj   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Prevalence of Post‐Operative Complications in Autotransplanted Teeth: A Long‐Term Retrospective Cohort

Dental Traumatology, EarlyView.
ABSTRACT Background/Aims To evaluate the prevalence and timing of post‐operative complications following tooth autotransplantation, identify factors associated with earlier diagnosis, and report long‐term survival and success rates. Materials and Methods A single‐centre retrospective cohort study was conducted at a Czech university dental clinic (2003 ...
Juraj Marton, Radovan Žižka, Linda Kučerová, Přemysl Krejčí, Martin Starosta, Zdeněk Pokorný   +5 more
wiley   +1 more source

Agenesis of the Maxillary First Permanent Molars: A Clinical and Radiographic Evaluation of a Rare Case

Journal of Dentistry Indonesia, 2017
Congenitally missing first permanent maxillary molars is a rare finding in any given population. The reported prevalence rate of maxillary first molar agenesis ranges from 0.2 to 1.5%. The exact aetiology of this dental anomaly is not clearly documented.
Sreekanth kumar Mallineni, Azher Mohiuddin Maohmmad, Anil Kumar patil, Ranvitha Priya Kodali   +3 more
doaj   +1 more source

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

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