Results 111 to 120 of about 325,190 (342)
Contemporary management of pain in cirrhosis: Toward precision therapy for pain
Hepatology, EarlyView., 2022 Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman +4 more
wiley +1 more source
Association Between Moraxella catarrhalis and Nodular Lymphocyte‐Predominant Hodgkin Lymphoma
American Journal of Hematology, EarlyView.ABSTRACT Nodular lymphocyte‐predominant Hodgkin Lymphoma (NLPHL) may be an antigen‐driven malignancy. Recent studies demonstrated that in NLPHL patients, lymphoma B‐cell receptor can bind proteins derived from Moraxella catarrhalis (MC) and Rothia mucilaginosa (RM). We examined whether MC and RM can be detected in NLPHL lymph nodes.
Izidore S. Lossos +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier +7 more
wiley +1 more source
A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods +16 more
wiley +1 more source
Problems in the Anatomy of the Pelvis: An Atlas [PDF]
, 1954 Eduard Uhlenhuth, DeWitt T. Hunter
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera +12 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source