GNE myopathy or hereditary inclusion body myopathy (HIBM) is an ultra-rare severely disabling autosomal recessive adult onset muscle disease which affects roughly one to three individuals per million worldwide. Genetically, HIBM is caused by mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), resulting in diminished enzyme function and reduced sialic a...

Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie) were investig...

PurposeRight ventricular (RV) failure is uncommon in patients awaiting heart transplantation (HTx). However, this small group of may require the placement a durable RVAD or temporary (tRVAD). It has not been well-established as to waitlist mortality post-transplant course for these patients.MethodsBetween 2012 and 2020, we assessed 20 who developed RV requiring (n=3) (tRVAD, n=17). The tRVAD in...

Spores of a number of clostridial species, and their resistance to thermal treatment is a major concern for the food industry. Spore resistance to wet heat is related to the level of spore hydration, which is inversely correlated with the content of calcium and dipicolinic acid (DPA) in the spore core. It is widely believed that the accumulation of DPA and calcium in the spore core is a fundame...

Corresponding author: Yuehuei H. An, MD, Department of Orthopaedic Surgery, Medical University of South Carolina, 96 Jonathan Lucas St, Suite 708, Charleston, SC 29425. Tel: (843) 792-8169; Fax: (843) 792-3674; [email protected] Figure 1. Scanning electron micrographs (SEM) of PLLA and nano apatite-PLLA scaffold surfaces prepared using sugar sphere leaching method. (A) PLLA scaffold; (B) Nano apatit...

BACKGROUND The aim of this study was to assess the prevalence of common ear, nose or throat (ENT) conditions presenting to emergency departments that could be managed by a primary healthcare system Method: Between January 2001 and January 2006 a total of 33 792 patients attended the ENT emergency department of one hospital. All cases were included in this retrospective study. The registry of EN...

In this paper, several numerical aspects of an existing model for fully nonlinear waves are improved and validated to study wave breaking due to shoaling over a gentle plane slope and wave breaking induced by a moving lateral boundary. The model is based on fully nonlinear potential flow theory and combines a higher-order Boundary Element Method (BEM) for solving Laplace’s equation at a given t...

(1 + 1) [278, 1816, 365, 1699]. (2 + 1) [507, 33, 487, 1110, 1492, 271]. (2m, 2n) [1307]. (2N) [1932]. (3/2) [591]. (5) [777]. (:φ: )2 [1788]. (dX/dx) + λX = 0 [1031]. (λ/4!)(φ1 + φ 4 2)d [813]. (M +N) [1110]. (n) [518]. (N + 1) [1932]. (n ≥ 2) [413]. (p, q) [1744]. (q, h) [573]. 1 + 1 [1100, 759]. 1/2 [642, 699]. 1/N [152]. 1/r [1160]. 1: 1: 2 [1943]. 2 [936, 1777, 1669, 1733, 1636]. 2 + 1 [71...

There are many representations of the Catalan numbers. In this article, we will examine the ballot problem and extend it beyond the standard p-Catalan extension to a left weighted extension. This extension reduces naturally to the p-Catalan numbers (including the standard 2-Catalan numbers). We will then give a variety of examples of the extension for other representations of the Catalan number...