Sir, X-linked adrenoleukodystrophy (X-ALD) is a hereditary metabolic disease with an incidence rate of 1:16,800. Mutations in the ABCD1 gene in X-q28 causes the presence of high levels of very long chain fatty acids (VLCFA) in the serum and tissues. X-ALD presents with adrenal insufficiency as well as severe cognitive and neurologic disability. Diagnosis of X-ALD requires the measurement of the...

BACKGROUND Primary care consultation data are an important source of information on morbidity prevalence. It is not known how reliable such figures are. AIM To compare annual consultation prevalence estimates for musculoskeletal conditions derived from four general practice consultation databases. DESIGN OF STUDY Retrospective study of general practice consultation records. SETTING Three ...

Exposure to cephalosporins could cause occupational allergic diseases in health care workers (HCWs). We evaluated the prevalence of serum specific IgE and IgG antibodies to cephalosporin-human serum albumin (HSA) conjugate and to identify potential genetic risk factors associated with sensitization to cephalosporins in exposed HCWs. The study population consisted of 153 HCWs who had been expose...

We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. In this area, two homozygous nonconserved missense mut...

OBJECTIVES We tested the hypothesis that comorbid diseases significantly affect the prognosis of sudden sensorineural hearing loss (ISSNHL). STUDY DESIGN A retrospective cohort study. METHODS The records of patients newly diagnosed with ISSNHL and treated with steroid prednisolone in a tertiary referral center between January 2003 and December 2013 were retrospectively reviewed. Pretreatmen...

Gene set analysis is widely used to facilitate biological interpretations in the analyses of differential expression from high throughput profiling data. Wilcoxon Rank-Sum (WRS) test is one of the commonly used methods in gene set enrichment analysis. It compares the ranks of genes in a gene set against those of genes outside the gene set. This method is easy to implement and it eliminates the ...

Objectives To describe a unique case report of a patient who had partial hearing preservation after translabyrinthine (TL) removal of a vestibular schwannoma (VS). Study Design Case report. Methods The patient's chart was reviewed for hearing levels before and after surgery. Preoperative magnetic resonance imaging (MRI) was compared with postoperative MRI for determination of completeness of tu...

Background and Objectives Middle ear implants (MEI) have been reported to be an effective safe alternative for the treatment of sensorineural hearing loss (SNHL) conductive (CHL). This study aimed compare functional outcomes between SNHL CHL in terms audiological gains.Subjects Method The medical records 14 consecutive patients who underwent MEI surgeries from 2015 2019 by a single surgeon were...

It has been a long time since the wireless technologies are used in learning activities to promote the interaction between teacher and learners. The recent advance in the mobile technologies has created new chances improving the flexibility, efficiency, and functionality of the learning interaction systems. This investigation identifies the weakness of the existing systems, and integrates the e...