Results 61 to 70 of about 146,020 (252)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Secondary abdominal pregnancy

Global Journal of Medicine and Public Health
Abdominal pregnancy is an extremely rare occurrence represent 1.4% of ectopic pregnancy. We present a case of a 30 year old lady, Gravida 3 Para 2 with 22 weeks gestation who attended our hospital with abdominal pain.
Prabhavathi V, Prasad DKV, Harika Y, Jhansi M   +3 more
doaj   +2 more sources

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Term Abdominal Pregnancy with Live Baby: Case Report from Hiwot Fana Specialized University Hospital, Eastern Ethiopia

International Medical Case Reports Journal, 2021
Tadesse Gure,1 Semir Sultan,1 Rehama Alishum,1 Abdek Ali,2 Bayissa Dibaba,1 Ibsa Usmael,1 Setegn Tsegaye1 1Department of Gynecology and Obstetrics, Haramaya University, Harar, Ethiopia; 2Department of Gynecology and Obstetrics, Jigjiga University ...
Gure T, Sultan S, Alishum R, Ali A, Dibaba B, Usmael I, Tsegaye S   +6 more
doaj  

A novel rat model of pulmonary artery embolism and the application value of lung ultrasound B‐lines in early‐stage pulmonary embolism

Animal Models and Experimental Medicine, EarlyView.
We report a novel embolus‐induced PE rat model prepared via the inferior vena cava under ultrasound guidance. The embolus employed featured a tubular plastic casing filled with thrombus. By minimizing the contact surface between plasmin and thrombus, it effectively restrains the elevated plasmin activity in rats.
Huide Ma, Shuangrui Wang, Honghui Li, Yaxing Zhang, Yuman Gao, Jie Zhou, Xia Xu, Rong Wu   +7 more
wiley   +1 more source

Morphometric analysis of postnatal lung development in the gray short‐tailed opossum (Monodelphis domestica): An ultrastructural study

The Anatomical Record, EarlyView.
Abstract An ultrastructural morphometric analysis of the postnatal development of the lung in the gray short‐tailed opossum (Monodelphis domestica) has been conducted to evaluate the morphofunctional status of this poorly developed marsupial lung immediately following parturition.
Kirsten Ferner
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

SECONDARY ABDOMINAL PREGNANCY AFTER ORGAN-PRESERVING SURGICAL TREATMENT OF TUBAL PREGNANCY (CLINICAL CASE)

Мать и дитя в Кузбассе
Abdominal pregnancy is a rare form of ectopic pregnancy that usually leads to an unfavorable outcome due to difficulties in timely diagnosis and should be detected early during routine antenatal examination.
Лариса Егоровна Фетищева, Алена Рамиловна Ахмадеева, Елизавета Владимировна Лаврова, Елена Владимировна Рудаева, Светлана Ивановна Елгина, Кира Борисовна Мозес, Григорий Валерьевич Вавин   +6 more
doaj