Results 41 to 50 of about 15,751 (259)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

A rare case of peritoneo-cutaneous fistula after cesarean section

open access: yes, 2020
Peritoneo-cutaneous fistula is usually a rare but known entity. Such a case has not been reported after cesarean sections. A 26-year female presented to our clinic in May 2019 with persistent sero-purulent discharge from sinus over abdominal skin.
Rana, Anshul, Mohindroo, Neha
core   +2 more sources

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel   +13 more
wiley   +1 more source

Role of tunica vaginalis interposition layer in hypospadias surgery

open access: yesIndian Journal of Plastic Surgery, 2006
Hypospadias surgery has evolved with more than 150 procedures for surgical correction of single anomaly .urethro-cutaneous fistula continues to be single most common complication of regardless of location of meatus, procedure performed and experience of ...
Handoo Yog Raj
doaj   +3 more sources

Odontogenic Cutaneous Fistula: A Diagnosis to be Remembered by the Dermatologist

open access: yesRevista da Sociedade Portuguesa de Dermatologia e Venereologia, 2020
Odontogenic cutaneous fistulas occur mostly on the mandibula but we report a case due to a periapical infection of a maxillar teeth with a less frequent location: a 32 years-old female patient with an erythematous nodular lesion in the nasogenian sulcus ...
Gustavo Moreira Amorim   +5 more
doaj   +1 more source

Human Gall-Bladder Communicating with Skin: Rare Anatomical Swerve [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2013
Cholecysto-cutaneous fistula is an extremely rare phenomenon in present era. We report a case of this rare entity wherein patient presented with unique history of passage of stones per umbilicus.
Arashdeep Singh, Sandeep Bansal
doaj   +1 more source

Effective Performance of the 2022 American College of Rheumatology/EULAR Classification Criteria for Antineutrophil Cytoplasmic Antibody–Associated Vasculitis in Pediatric Patients: An ARChiVe Study

open access: yesArthritis &Rheumatology, EarlyView.
Objective To assess the 2022 American College of Rheumatology (ACR)/EULAR classification criteria for antineutrophil cytoplasmic antibody–associated vasculitis (AAV) in children with chronic small‐to‐medium vessel vasculitis. Methods A cohort of 574 patients, identified by physician's diagnosis (MD‐diagnosis) in A Registry of Childhood Vasculitis, was ...
David A. Cabral   +41 more
wiley   +1 more source

Harnessing blood clot as a native scaffold for orchestrating tissue repairs and regeneration

open access: yesBMEMat, EarlyView.
The blood clot, owing to its dynamic composition and unique microenvironment, holds significant yet underappreciated potential for tissue engineering. This review systematically summarizes the pathophysiology of clot formation, the key regulatory factors shaping its microenvironment, and its applications in both pre‐clinical and clinical settings ...
Gao‐peng Dang   +13 more
wiley   +1 more source

A prospective study on enterocutaneous fistula in a tertiary care centre: A single institution study

open access: yesJournal of Applied Pharmaceutical Research, 2023
Background: Aberrant connection linking gastrointestinal tract and the skin is termed Enterocutaneous fistula. Enterocutaneous fistulas can lead to significant morbidity and mortality.
Karthikeyan Selvaraj   +3 more
doaj   +1 more source

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