RESUMEN
OBJECTIVE: To investigate the mutation in Vangl1 gene in patients of myelomeningocele. METHODS: The cross-sectional study was conducted from July 2017 to December 2017 in the Dow Diagnostic and Research Laboratory, Karachi, after approval from the ethics review committee of Dow University of Health Sciences, Karachi, and comprised clinically diagnosed infants and 10 healthy individuals from the outpatient department of Jinnah Postgraduate Medical Centre, Karachi. Several anatomical parameters were considered, such as size and site of the cyst. Blood samples were drawn and polymerase chain reaction was conducted for the identification of mutation in Vangl1 gene. Mutation analysis was carried out by aligning the sequence with the reference sequence. RESULTS: Of the 60 subjects, 50(83.3%) were cases with age range 0-10 years, and 10(16.6%) were age matched controls. Majority of the patients 44 (88%) were aged <1 year. Novel mutation in Vangl1 gene was identified at position 239, showing the substitution of valine with glycineV239G. Lumbar region was the most common site for the presentation of myelomeningocele in most of the patients 46(92%). CONCLUSIONS: The rare mutation of myelomeningocele was found present in the sample, and the disease was found mostly in the lumbar region.
Asunto(s)
Proteínas Portadoras , Proteínas de la Membrana , Meningomielocele , Proteínas Portadoras/genética , Niño , Preescolar , Estudios Transversales , Humanos , Lactante , Recién Nacido , Proteínas de la Membrana/genética , Meningomielocele/epidemiología , Meningomielocele/genética , Mutación , Pakistán/epidemiología , Reacción en Cadena de la PolimerasaRESUMEN
OBJECTIVE: To compare sublay and onlay techniques of ventral hernia repair in terms of postoperative drain removal time and wound infection. METHODS: This randomised controlled study was conducted from June to December 2016 at Jinnah Medical and Dental College Hospital, Karachi, and comprised hernia patients who were divided into two equal groups A and B. The former were subjected to onlay technique while the latter underwent sublay technique. Operative repair was performed at least 1 year after the index surgery, as this time was required for scar maturation. Data was analysed using SPSS 23, and mean drain removal time between the groups was compared. RESULTS: There were 100 patients, with 50(50%) in each of the two groups. Mean age of patients in group A was 40.30±4.52 years while in group B, it was 39.12±4.58 years. The mean drain removal time in group A was 4.40±1.53 days and in group B it was 3.06±0.23 days (p=0.01).The difference in terms of wound infection was also significant (p=0.04). CONCLUSIONS: Sublay hernia repair was found to be a good alternative to onlay repair for treatment of ventral hernia.
Asunto(s)
Drenaje , Hernia Ventral/cirugía , Herniorrafia/métodos , Mallas Quirúrgicas , Infección de la Herida Quirúrgica/etiología , Adulto , Femenino , Herniorrafia/efectos adversos , Humanos , Masculino , Cuidados Posoperatorios , Implantación de Prótesis/métodos , Factores de TiempoRESUMEN
Alliumonoate, a new cyclopentane derivative, has been isolated from the chloroform-soluble fraction of the ethanolic extract of Allium victorialis, along with ß-amyrin acetate, ß-sitosterol acetate, 22-cyclohexyl-1-docosanol, ß-amyrin, ß-sitosterol, and ß-sitosterol 3-O-ß-D-glucopyranoside, reported for the first time from this species. Their structures were elucidated on the basis of spectral data including mass spectra and 2D NMR experiments.