Results 111 to 120 of about 114,297 (258)

UGT1A1 genotype testing for irinotecan: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 2986-3001, September 2026.
Abstract Irinotecan, a topoisomerase I inhibitor, is available as both non‐pegylated and pegylated formulations. The non‐pegylated formulation is licensed for use in advanced colorectal cancer either in combination with other agents or as monotherapy.
Dharmisha Chauhan, Cinzia Dello Russo, Jack Thompson, Dyfrig A. Hughes, Katherine Payne, Maria Tsakiroglou, Paul Ross, Rena Chauhan, Simon Jenkinson, Jessica Keen, Sophie Harding, Eleanor Lau, Michael Braun, Roshan Agarwal, Richard Adams, Elisabeth Rolf, Farah Al‐Sheikhli, Sarah Mitchell, Ruth Hammond, Rosie Roberts, Lorna Cairns, Shirley Heggarty, Janet Graham, Justin Mencel, Munir Pirmohamed   +24 more
wiley   +1 more source

Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid, Ayesha Ahmad, Amna Ahmad, Muhammad Ajmal Khamosh, Muhammad Hanzla   +4 more
wiley   +1 more source

Late Vitamin K Deficiency Bleeding Presenting as Subacute Subdural Hemorrhage in an Exclusively Breastfed Infant: A Preventable Life‐Threatening Condition—A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Late vitamin K deficiency bleeding should be considered in exclusively breastfed infants presenting with seizures, pallor, or unexplained bleeding, particularly when vitamin K prophylaxis was not administered at birth. Early diagnosis and prompt vitamin K administration can rapidly correct coagulopathy and prevent life‐threatening intracranial
Yasir Khalif Ali, Mohamed Nur Ali, Fardowsa Hassan Ahmed, Farah Ali Ahmed, Farah Abdullahi Ismail, Ibrahim Mohamed Hirsi, Said Abdirahman Ahmed, Mohamed Mukhtar Mohamed   +7 more
wiley   +1 more source

Significance of UGT1A1*28 genotype in patients with advanced liver injury caused by chronic hepatitis C [PDF]

Journal of Medical Biochemistry, 2019
Background: Chronic hepatitis C (CHC) is a significant cause of liver related morbidity and mortality worldwide. The role of genetics in the host response to hepatitis C virus is not elucidated. Genetic variations in UGT1A1 gene are the most common cause
Jordović Jelena, Bojović Ksenija, Simonović-Babić Jasmina, Gašić Vladimir, Kotur Nikola, Zukić Branka, Vuković Marija, Pavlović Sonja, Lazarević Ivana, Bekić Ivana, Nikolić Nataša, Urošević Aleksandar, Mitrović Nikola, Delić Dragan   +13 more
doaj  

Biliary Atresia With Situs Inversus Abdominalis Managed by Kasai Portoenterostomy: A Case Report From Muhimbili National Hospital, Tanzania

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Biliary atresia associated with situs inversus abdominalis is a rare congenital combination that complicates diagnosis and surgical orientation. Early recognition, meticulous preoperative planning, and timely Kasai portoenterostomy can achieve favorable short‐term outcomes.
Rajabu Athumani Bakari, Alfred Chibwae, Brian Kimanthi, Tariq Aziz, Georvin Marco Haule, Novath Ngowi, Ally Hamisi Mwanga, Zaitun M. Bokhary   +7 more
wiley   +1 more source

Immune Thrombotic Thrombocytopenic Purpura Following Trimethoprim Sulfamethoxazole Reexposure: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT An 85‐year‐old man developed acute neurologic dysfunction, severe thrombocytopenia, microangiopathic hemolytic anemia, and ADAMTS13 activity of 4.6% after TMP‐SMX reexposure. Seven plasma‐exchange sessions plus corticosteroids produced rapid recovery.
Renee Morecroft, Jyoti Moorjani, Mohamed Hussam Hallak, Tathana Rivera Hernandez, Isabella Estrada, Hammad Awad, Payam Nabizadeh‐Eraghi   +6 more
wiley   +1 more source

From Undifferentiated Connective Tissue Disease to Common Variable Immunodeficiency: A Novel NFKB1 Mutation in a Pediatric Case

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Common variable immunodeficiency (CVID) may initially manifest as undifferentiated connective tissue disease (UCTD) in the absence of recurrent infections or hypogammaglobulinemia. In patients presenting with warning signs, neither older age nor normal immunoglobulin levels should preclude consideration of CVID; early genetic testing is ...
Yu‐Jie Hu, Sheng Hao, Dan Feng, Bing‐Xue Huang, Wen‐Yan Huang   +4 more
wiley   +1 more source

Neonatal cholestatic cirrhosis in an infant with dehydrated hereditary stomatocytosis due to a PIEZO1 mutation: a rare association

Egyptian Pediatric Association Gazette
Background Neonatal cholestasis is a multifactorial disorder that may result from metabolic, infectious, or genetic etiologies. Dehydrated hereditary stomatocytosis (DHS), a rare autosomal dominant hemolytic anemia caused by PIEZO1 gene mutations, is ...
Deepak Borde, Vishal Sawant, Sushma Save, Alpana Kondekar   +3 more
doaj   +1 more source

Multiomics analyses revealed the roles of the epithelial–mesenchymal transition and novel early candidate diagnostic biomarkers in neonatal necrotising enterocolitis

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
In infants with necrotising enterocolitis (NEC), excessive inflammation and epithelial cell death promote the epithelial–mesenchymal transition (EMT), leading to damage to intestinal barriers and the translocation of bacteria and toxins. In addition, inflamed epithelia release cytokines to strengthen the inflammatory response.
Xiao‐Chen Liu, Guo‐Bin Liu, Chen Cheng, Jin Zhu, Fei‐Fan Chen, Ying Ji, Yu‐Ni Zhang, Xiao‐Lin Yan, Qing Wang, Xin‐Yu Li, Qing Ai, Yuan Shi, Yu He   +12 more
wiley   +1 more source

Incidence and causes of neonatal hyperbilirubinemia in a center of Catania

, 2009
Marco Sciuto1, Gaetano Bertino2, Mariangela Zocco3, Ignazio Vecchio4, Rocco Raffaele4, Rosario R Trifiletti5, Piero Pavone3,61Neonatal Care Section, Valsalva Hospital, Catania, Italy; 2Department of Internal Medicine, Hospital S Marta University of ...
Gaetano Bertino, Ignazio Vecchio, Mariangela Zocco, et al., Marco Sciuto   +4 more
core