Katherine Jacobs

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Background Left ventricular noncompaction (LVNC) cardiomyopathy is a rare form of cardiomyopathy. It is difficult to diagnose prenatally and therefore not well described in the fetal population. There have been a few reports in the literature detailing isolated cases of fetal and neonatal LVNC cardiomyopathy. Case Report We present a case of LVNC(More)
GNE myopathy, previously termed hereditary inclusion body myopathy (HIBM), is an adult-onset neuromuscular disorder characterized by progressive muscle weakness. The disorder results from biallelic mutations in GNE, encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, the key enzyme of sialic acid synthesis. GNE myopathy, associated with(More)
OBJECTIVES Tonsillectomies and adenotonsillectomies (TE and ATE) are among the most frequently performed operations in the western world. Despite the lack of generally accepted clinical guidelines about indications, the beneficial role of the procedure has been established. The aim of this study was to identify current practice relating to indications for(More)
"Proplast" is the propriety name for a recently developed artificial substance developed from Teflon. This porous material is said to be firmly incorporated within 6-8 weeks through tissue ingrowth. It is still under clinical assessment. We report our experiences with 30 Proplast implants in the region of the jaws and face.
The etiology of polyhydramnios may be attributed to either increased production of amniotic fluid (fetal polyuria or high-output cardiac failure) or decreased fetal swallowing (obstruction or neurological impairment). Although idiopathic polyhydramnios occurs in nearly half of all cases, it is often associated with fetal abnormalities. Fetal ductus(More)
The bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) catalyzes the first two committed steps in sialic acid synthesis. Non-allosteric GNE gene mutations cause the muscular disorder GNE myopathy (also known as hereditary inclusion body myopathy), whose exact pathology remains unknown. Increased knowledge of GNE regulation, including isoform(More)