Suspension laryngoscopy is a common laryngeal procedure in Endolaryngeal microsurgery (ELMS). Oral mucosa and dental injuries are the known complications of the procedure. Nerve injury however is an infrequent encounter. We report a rare complication of lingual nerve injury which manifested as tongue numbness and altered taste following Endolaryngeal microsurgery procedure. The condition improved completely after few months of conservative management.
The importance of serum lipids as cardiovascular risk factors is well recognized. However, most published studies have focused on western countries. The present study aimed to describe and analyze the lipid profile parameters in Malaysian dyslipidemic patients, and to identify concomitant clinical problems and risk factors associated with cardiovascular disease (CVD) among such patients.
Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child, a product of a non consanguineous marriage, who presented with developmental retardation, hypertelorism, microcephaly, flat occiput, broad nasal bridge, large ears, micrognathia, wide spaced nipples, protruding umbilicus, short stubby fingers, clinodactyly, single palmar crease, short neck with no obvious webbing, and congenital heart defect. Conventional karyotyping and Whole Chromosome Paint of the peripheral leukocytes showed 46,XY,r(6)(p25q27) karyotype with plausible breakpoints at p25 and q27 end. Conventional karyotyping of both parents showed normal karyotype. To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality.
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease, which is characterized by degeneration of the anterior horn cells of the spinal cord. SMA is classified into 3 clinical subtypes, type I (severe), type II (intermediate), and type III (mild). Two genes, SMN1 and NAIP, have been identified as SMA-related genes. The SMN1 gene is now recognized as a responsible gene for the disease because it is deleted or mutated in most SMA patients. However, the role of the NAIP gene in SMA has not been fully clarified. To clarify the contribution of NAIP to the disease severity of SMA, we studied the relationship between NAIP-deletion and clinical phenotype in Malaysian patients. A total of 39 patients lacking SMN1 (12 type I, 19 type II, and 8 type III patients) were enrolled into this study. Seven out of 12 patients with type I SMA (approximately 60%) showed NAIP deletion. On the contrary, only 2 out of 20 type II patients and none of type III patients showed NAIP deletion. There was a statistically significant difference in NAIP-deletion frequency among the clinical subtypes (Fisher's exact probability test, p value = 0.014). In conclusion, according to our data that NAIP deletion was more frequent in type I SMA than in type II-III SMA, the NAIP gene may be a modifying factor for disease severity of SMA.
The Prostaglandin F2alpha (PGF2alpha) receptor gene has been found to play an important role in reducing the intraocular pressure of the glaucomatous patients. Variations of the PGF2alpha receptor gene may be responsible for the differences in the response to an antiglaucoma drug, Latanoprost. A combined method of denaturing High Performance Liquid Chromatography (dHPLC) and sequencing was applied to detection of the PGF2alpha receptor gene variant among the 76 Malaysian patients with glaucoma, and a novel single nucleotide polymorphism (SNP), IVS -97A>T, was identified. According to the genotyping analysis, 36.8% of the subjects were heterozygous for the variant allele T, while 9.2% homozygous. The frequency of variant allele T was 0.28. Although with a limited number of samples, our data suggested that this polymorphism is common in the Malaysian patients with glaucoma.
This study was to assess the impact of different colors of coffee fruit (green, yellow and red) on adipogenesis and/or lipolysis using 3T3-L1 adipocytes. Characterization of chemical constituents in different colors of coffee fruit extracts was determined by ESI-Q-TOF-MS. The cytotoxicity of the extracts in 3T3-L1 preadipocytes were evaluated by MTT assay. Oil-red O staining and amount of glycerol released in 3T3-L1 adipocytes were measured for lipid accumulation and lipolysis activity. All coffee fruit extracts displayed similar chromatographic profiles by chlorogenic acid > caffeoylquinic acid > caffeic acid. Different colors of raw coffee fruit possessed inhibitory adipogenesis activity in 3T3-L1 adipocytes, especially CRD decreased lipid accumulation approximately 47%. Furthermore, all extracts except CYF and their major compounds (malic, quinic, and chlorogenic acid) increased glycerol release. Our data suggest that different colors of coffee fruit extract have possessed anti-adipogenic and lipolytic properties and may contribute to the anti-obesity effects.