Results 31 to 40 of about 30,484 (178)
American 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
Scarless laparoscopic repair of epigastric hernia in children [PDF]
, 2015 Background Despite the small size of the incision, the scar left by open repair of epigastric hernia in children is unaesthetic. Few laparoscopic approaches to epigastric hernia repair have been previously proposed, but none has gain wide acceptance ...
Pinto, Jorge Correia +1 more
core +2 more sources
American 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
UMBILICAL HERNIA OF THE NEWBORN [PDF]
The American Journal of the Medical Sciences, 1895 n ...
openaire +2 more sources
Comments on Saint’s triad [PDF]
, 2015 Yamanaka et al. described two case studies involving coexistent cholelithiasis, hiatal hernia, and umbilical hernias, and discussed clinical similarities with the classical features of the Saint’s triad.
Lister Arruda Modesto dos Santos +1 more
core +1 more source
American 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
Epilepsia, EarlyView.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source
LIPECTOMY AND UMBILICAL HERNIA [PDF]
Journal of the American Medical Association, 1916 The fact that umbilical hernia is a dangerous abdominal condition, if allowed to exist without an attempt at relief, is sufficient reason for calling attention to this defect of anatomy. The radical treatment by the overlapping, or Mayo method, is so well known that it seems almost superfluous to mention it, but it is valuable enough to stand ...
openaire +2 more sources
The effects of amoxicillin treatment of newborn piglets on the prevalence of hernias and abscesses, growth and ampicillin resistance of intestinal coliform bacteria in weaned pigs [PDF]
, 2017 This study investigated the effects of a single amoxicillin treatment of newborn piglets on the prevalence of hernias and abscesses until the age of nine weeks.
Heinonen, Mari +4 more
core +1 more source
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective To assess the preoperative diagnostic accuracy of abdominal wall endometriosis (AWE) by general surgical teams and specialized endometriosis centers in assessing abdominal wall masses using clinical evaluation and imaging. Methods A retrospective cohort study included patients with a pathologic diagnosis of AWE who underwent surgical
Dana Josephy +7 more
wiley +1 more source