Results 81 to 90 of about 64,532 (311)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Hernias del hiato esofágico

open access: yesCirugía del Uruguay, 1972
Se hacen una serie de precisiones sobre las características de las hernias del hiato esofágico del diafragma (H.l-I.E.) insistiéndose en la importancia de la esofagitis por reflujo en las de variedad de ascenso. Se precisan los elementos necesarios en el
Walter Suiffet   +2 more
doaj  

Early and late complications of bariatric operation. [PDF]

open access: yes, 2018
Weight loss surgery is one of the fastest growing segments of the surgical discipline. As with all medical procedures, postoperative complications will occur. Acute care surgeons need to be familiar with the common problems and their management. Although
Beekley, Alec   +3 more
core   +1 more source

A multicenter prospective study of patients undergoing open ventral hernia repair with intraperitoneal positioning using the monofilament polyester composite ventral patch : interim results of the PANACEA study [PDF]

open access: yes, 2017
This study assessed the recurrence rate and other safety and efficacy parameters following ventral hernia repair with a polyester composite prosthesis (Parietex™ Composite Ventral Patch [PCO-VP])
Berrevoet, Frederik   +11 more
core   +2 more sources

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +1 more source

Large scrotal hernias: Totally extraperitoneal (TEP) or transabdominal preperitoneal (TAPP) repair?

open access: yesInternational Journal of Abdominal Wall and Hernia Surgery, 2020
INTRODUCTION: Large scrotal hernias are rare, constituting
Virinder Kumar Bansal   +5 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Primary abdominal intercostal hernia: Dream or clinical reality?

open access: yesInternational Journal of Abdominal Wall and Hernia Surgery
The term intercostal hernia (IH) refers to conditions where either the lung or abdominal viscera herniate through a defect in the intercostal space.
Michela Zanatta, Marcello Donati
doaj   +1 more source

Etiology of Inguinal Hernias: A Comprehensive Review

open access: yesFrontiers in Surgery, 2017
BackgroundThe etiology of inguinal hernias remains uncertain even though the lifetime risk of developing an inguinal hernia is 27% for men and 3% for women.
Stina Öberg   +2 more
doaj   +1 more source

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