Results 101 to 110 of about 2,263,137 (364)

Changes In angulation and phalangeal length of fingers and thumbs following surgical treatment for congenital clinodactyly [PDF]

, 2016
INTRODUCTION: Congenital clinodactyly is a condition characterized by the deviation of a digit or digits in the coronal plane. Angulation is often due to the presence of a delta phalanx.
Gordon, Alanna Alexandra
core   +1 more source

Exposure Registries as a Prevention Tool for Occupational Cancers: Establishing a New Hazardous Drug Registry for Oncology Personnel

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Public health registries collect and maintain demographic and health data on a cohort of people with a common disease or exposure. While disease registries have proliferated in recent decades, registries comprising persons with potentially hazardous exposures—known commonly as exposure registries—are rare.
Sammy Almashat, Matthew Horch, Brian Chen, Melissa McDiarmid   +3 more
wiley   +1 more source

Structural imaging biomarkers of sudden unexpected death in epilepsy. [PDF]

, 2015
Sudden unexpected death in epilepsy is a major cause of premature death in people with epilepsy. We aimed to assess whether structural changes potentially attributable to sudden death pathogenesis were present on magnetic resonance imaging in people who ...
Balestrini, Simona, Diehl, Beate, Duncan, John S, Harper, Ronald M, Koepp, Matthias, Lhatoo, Samden, Micallef, Caroline, Sander, Josemir W, Scott, Catherine, Sisodiya, Sanjay M, Thom, Maria, Vos, Sjoerd B, Wandschneider, Britta   +12 more
core   +3 more sources

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Non-compaction cardiomyopathy – brief review [PDF]

, 2017
Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela, Constantin, Anca, Donoiu, Ionuț, Istrătoaie, Octavian, Militaru, Constantin, Mirea, Oana, Mănescu, Mirela, Târtea, Georgică Costinel   +7 more
core   +3 more sources

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Burden of digestive congenital anomalies among children aged 0–14 years in 204 countries and territories, 1990–2021: results from the Global Burden of Disease Study 2021

BMJ Open
Objectives We aim to delineate the digestive congenital abnormalities burden in children under 14 years old between 1990 and 2021.Design We implemented data from the Global Burden of Disease (GBD) 2021 database to evaluate digestive congenital ...
Jie Luo, Xi Luo, Jun Du, Jinhua Zhao, Deqin Lu, Huajian Gu   +5 more
doaj   +1 more source

Characterization of congenital craniofacial anomalies in a specialized hospital of Risaralda, Colombia. 2010-2014

Revista de la Facultad de Medicina, 2018
Introduction: Congenital craniofacial malformations have a major impact on the lives of children and their relatives when the face is compromised since they may present along with cognitive deficits or altered facial appearance.
Ximena Silva-Giraldo, Gloria Liliana Porras-Hurtado   +1 more
doaj   +1 more source

Electrocardiographic Abnormalities and Treatment with Benznidazole among Children with Chronic Infection by Trypanosoma cruzi: A Retrospective Cohort Study [PDF]

, 2016
Background: Chronic infection by Trypanosoma cruzi could cause heart conduction disturbances. We sought to analyze electrocardiographic abnormalities among children with chronic T. cruzi infection with and without trypanocidal treatment with benznidazole.
Colantonio, Lisandro Damián, Prado, Nilda, Segura, Elsa Leonor, Sosa-Estani, Sergio Alejandro   +3 more
core   +2 more sources