Results 111 to 120 of about 32,890 (270)

Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation‐Dependent Probe Amplification

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
Evaluation of 80 Mexican patients with suspected 22q11.2 deletion syndrome, including detailed phenotypic characterization. Multiplex ligation‐dependent probe amplification identified both typical and atypical deletions, underscoring the need for complementary approaches to fluorescence in situ hybridization.
Thania Alejandra Aguayo‐Orozco, Horacio Rivera, Luis E. Figuera, Eduardo Esparza‐García, Francisco Javier Perea‐Díaz, Ana Rebeca Jaloma‐Cruz, Lourdes del Carmen Rizo‐de la Torre, Ma. Guadalupe Domínguez‐Quezada   +7 more
wiley   +1 more source

Management of xylazine toxicity, overdose, dependence, and withdrawal: A systematic review

The American Journal on Addictions, Volume 34, Issue 6, Page 589-602, November 2025.
Abstract Background and Objectives Xylazine, an alpha‐2‐adrenergic agonist, has been increasingly implicated in substance use and overdose crises. However, little is known about its effects on humans. With the growing public health crisis surrounding xylazine, it has become important to recognize and promptly manage symptoms of xylazine toxicity ...
Philipa Owusu‐Antwi, Priya Atodaria, Edmund Appiah‐Kubi, Zainab Shah, Elpidio Marlon Garcia   +4 more
wiley   +1 more source

AN OPERATION FOR UMBILICAL HERNIA

Annals of Surgery, 1910
n ...
openaire   +3 more sources

Torted Fibroid: A Cause of Acute Abdomen in Pregnancy

ANZ Journal of Surgery, EarlyView.
Cameron Douglas, Alexander Owen, Mark Muhlmann   +2 more
wiley   +1 more source

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

Clinical Genetics, Volume 108, Issue 5, Page 553-565, November 2025.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat   +24 more
wiley   +1 more source

Newborn with Hernia Umbilical Cord: A Case Report and Review of Literature

Open Access Surgery, 2021
Saif Ghabisha,1 Faisal Ahmed,2 Saleh Al-wageeh,1 Ebrahim Al-shami,2 Khalil Al-naggar,2 Ghamdan Obaid,3 Mohammad Reza Askarpour4 1Department of General Surgery, Ibb University of Medical Science, Ibb, Yemen; 2Urology Research Center, Al-Thora General ...
Ghabisha S, Ahmed F, Al-wageeh S, Al-shami E, Al-naggar K, Obaid G, Askarpour MR   +6 more
doaj  

Ultrasound-guided rectus sheath block in children with umbilical hernia: Case series

Saudi Journal of Anaesthesia, 2013
Background: Umbilical hernia repair, a common day-case surgery procedure in children, is associated with a significant postoperative pain. The most popular peripheral nerve blocks used in umbilical hernia repair are rectus sheath infiltration and caudal ...
Abdul Hamid Alsaeed, Ahmed Thallaj, Nancy Khalil, Nada AlMutaq, Ayman Aljazaeri   +4 more
doaj   +1 more source

ON A METHOD OF OPERATING IN STRANGULATED UMBILICAL HERNIA. [PDF]

, 1882
ThomasF. Chavasse
openalex   +1 more source

Neonatal diabetes mellitus is a significant feature of COXPD‐24 caused by recessive NARS2 variants

Diabetic Medicine, Volume 42, Issue 11, November 2025.
Abstract Background Recessive loss‐of‐function NARS2 variants causing the multi‐system disorder Combined oxidative phosphorylation deficiency 24 (COXPD24) have recently been reported in 3 individuals with diabetes diagnosed between 3 days and 14 months of age. In this study, we investigate the presence of NARS2 variants in a large cohort of individuals
Russell Donis, Matthew N. Wakeling, Nicola Jeffery, Molly Govier, Matthew B. Johnson, Samar Sabir Hassan, Mohammed Ahmed Abdullah, Khadiga Yehia Elsayed Eltonbary, Nima Parvaneh, Mahsa M. Amoli, Farzaneh Abbasi, Selin Elmaoğulları, Semra Çetinkaya, Kubra Gunes, Meltem Tayfun, Hanieh Yaghootkar, Andrew T. Hattersley, Sarah E. Flanagan, Elisa De Franco   +18 more
wiley   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source