Attitude to Health ; Beauty ; Body Image ; Female ; Humans ; Reconstructive Surgical Procedures ; psychology ; Self Concept

INTRODUCTIONAlthough cosmetic procedures have become increasingly popular among the younger population in recent years, limited research on this subject has been done in the Asian context. We aimed to explore the views and knowledge regarding cosmetic procedures among junior college (JC) and medical students in Singapore.

METHODSIn the first phase of the study, a cross-sectional, self-administered survey of 1,500 JC students aged 16-21 years from six JCs was conducted in 2010. The same survey was then conducted on a random sample of Year 2-5 medical students from an undergraduate medical school in 2011.

RESULTSIn total, 1,164 JC and 241 medical students responded to the surveys. There was an overall female to male ratio of 1.3:1. Of all the respondents, 2.5% of the JC students and 3.0% of the medical students admitted to having undergone cosmetic procedures. Among those who claimed to have never had cosmetic procedures done, 9.0% and 44.0% of the JC and medical students, respectively, responded that they would consider such procedures in the future. Those who disapproved of their peers undergoing cosmetic surgery comprised 35.0% of JC students and 56.8% of medical students. Among the JC and medical students, 52.0% and 36.1%, respectively, were unaware of any risks associated with cosmetic procedures.

CONCLUSIONThe younger population is increasingly accepting of cosmetic procedures. However, there is a general lack of understanding of the risks associated with such procedures. Education of both the general public and medical students may help prevent potential medicolegal issues.

Adolescent ; Adult ; Asian Continental Ancestry Group ; Attitude to Health ; Cross-Sectional Studies ; Female ; Humans ; Male ; Singapore ; Students ; statistics & numerical data ; Students, Medical ; statistics & numerical data ; Surgery, Plastic ; utilization ; Universities ; Young Adult

Female ; Humans ; Male ; Students ; statistics & numerical data ; Students, Medical ; statistics & numerical data ; Surgery, Plastic ; utilization

BACKGROUNDDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker muscular dystrophy (DMD/BMD), and to study genotype-phenotype correlation.

METHODSA retrospective review of 67 patients.

RESULTSTwenty-three (34.3%) patients had exon deletions; whereas 5 (7.5%) patients had exon duplications. Twenty-three (34.3%) patients had small mutations, including 17 point mutations and 6 small insertions or deletions. No correlation was found between the type of mutation and the muscle phenotype or mental retardation. Significantly fewer maternal carriers were found in patients with exon deletions, and a positive family history was more common in those with small mutations. DMD phenotype was significantly less common in patients with exon deletions/duplications at the 5' hotspot, whereas all 4 small mutations associated with mental retardation were located in the 3' end of the gene.

CONCLUSIONSThe percentage of DMD exon deletions in local Chinese patients was significantly lower than the commonly quoted 60%. This indicated an ethnic or regional difference in predisposition to DMD exon deletions.

Asian Continental Ancestry Group ; Dystrophin ; genetics ; Exons ; Genotype ; Heterozygote ; Humans ; Intellectual Disability ; genetics ; Muscular Dystrophy, Duchenne ; genetics ; Mutation ; Phenotype ; Polymerase Chain Reaction

Abnormalities, Multiple ; genetics ; Amino Acid Sequence ; Blepharophimosis ; genetics ; Blepharoptosis ; genetics ; Eyelids ; abnormalities ; Female ; Forkhead Box Protein L2 ; Forkhead Transcription Factors ; genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Syndrome

Homeodomain Proteins ; genetics ; Humans ; Infant, Newborn ; Male ; Mutation ; Promoter Regions, Genetic ; Sleep Apnea, Central ; congenital ; genetics ; Syndrome ; Transcription Factors ; genetics

BACKGROUNDSotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

METHODSThirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing.

RESULTSNSD1 gene mutations were detected in 26 (72%) Sotos patients. Microdeletion was found in only 3 patients, while the other 23 had point mutations (6 frameshift, 8 nonsense, 2 spice site, and 7 missense). Of these, 19 mutations were never reported. NSD1 gene mutations were not found in the two patients with Weaver syndrome.

CONCLUSIONSMost cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth. The two patients with Weaver syndrome were not found to have NSD1 gene mutations, but the number was too small for any conclusion to be drawn.

Abnormalities, Multiple ; genetics ; Brain ; abnormalities ; Child, Preschool ; Craniofacial Abnormalities ; genetics ; Developmental Disabilities ; genetics ; Gene Deletion ; Growth Disorders ; genetics ; Humans ; Infant ; Intracellular Signaling Peptides and Proteins ; genetics ; Mutation ; Nuclear Proteins ; genetics ; Syndrome

Results between different clinical laboratory measurement procedures (CLMP) should be equivalent, within clinically meaningful limits, to enable optimal use of clinical guidelines for disease diagnosis and patient management. When laboratory test results are neither standardized nor harmonized, a different numeric result may be obtained for the same clinical sample. Unfortunately, some guidelines are based on test results from a specific laboratory measurement procedure without consideration of the possibility or likelihood of differences between various procedures. When this happens, aggregation of data from different clinical research investigations and development of appropriate clinical practice guidelines will be flawed. A lack of recognition that results are neither standardized nor harmonized may lead to erroneous clinical, financial, regulatory, or technical decisions. Standardization of CLMPs has been accomplished for several measurands for which primary (pure substance) reference materials exist and/or reference measurement procedures (RMPs) have been developed. However, the harmonization of clinical laboratory procedures for measurands that do not have RMPs has been problematic owing to inadequate definition of the measurand, inadequate analytical specificity for the measurand, inadequate attention to the commutability of reference materials, and lack of a systematic approach for harmonization. To address these problems, an infrastructure must be developed to enable a systematic approach for identification and prioritization of measurands to be harmonized on the basis of clinical importance and technical feasibility, and for management of the technical implementation of a harmonization process for a specific measurand.
Humans ; Sensitivity and Specificity