Mutation analysis of the PNPLA1 gene in a family with autosomal recessive congenital ichthyosis / 中华皮肤科杂志

Objective To identify a causative gene of autosomal recessive congenital ichthyosis (ARCI) in a Chinese family,and to analyze the genotype-phenotype correlation.Methods Peripheral blood samples were collected from the proband,his elder brother and parents,and genomic DNA was extracted from these blood samples.Genome-wide exome sequencing was conducted to determine the mutation site in the proband,and then allele-specific oligonucleotide primers were designed based on the mutation site.PCR was performed to detect the mutation site to further identify the causative gene of ARCI in the family.Results A new homozygous missense mutation was identified in exon 4 in 1 allele of the PNPLA1 gene in the proband,which led to a codon change from cytosine (C) to thymine (T) at position 700 (c.700C ＞ T) and resulted in the substitution of proline by serine (p.pro234ser).The same mutation was also detected in the proband's brother,and his parents were the mutation carriers.No mutations were found in unrelated healthy Chinese individuals.Conclusion The missense mutation in the PNPLA1 gene (p.pro234ser) is associated with clinical symptoms of the patient with ARCI.

Operative treatment for osteonecrosis of the femoral head: a review of 202cases / 中国医师杂志

Objective To find out the optimal operative methods for the patients with osteonecrosis of the femoral head according to age and the staging. Methods The current study assessed 202 patients(242 hips)from 1998 to 2008 with an average follow-up of 6.3years (range,1 -10 years), who were operated according to age and staging by Ficat or Catterall. The mean age of the patients was 35.3 years(range,4 -81 years). All patients were evaluated with both clinical and radiographical criterion. Results The postoperative excellent and good rate were 87.2% ,88.8% and 85.7% in each group respectively. The mean Hariss score increased (P <0.05) and the mean VAS score decreased (P < 0.05) in youth group and old group. Conclusions Children who were younger than six years of age and with Catter-all Ⅱ-Ⅲ involvement should be treated by ascularized iliac or greater trochanter bone periosteal flaps. Patients who were less than forty years of age, with Ficat Ⅱ-Ⅲ should be treated by ascularized iliac or greater trochanter bone flaps. For patients with age older than 50 years or younger than 50 years but with severe forms, hybrid or cememtless total hip arthroplasty may be the optimal operation.

Extracorporeal shock wave treatment for pain following hip replacement / 中国组织工程研究

BACKGROUND:Pain after hip replacement is a difficulty for orthopedic surgeons,and revision surgery might result in severe wound for patients undergoing hip replacement.Extracorporeal shock wave(ESWT) is certificated effective for relieving pain.OBJECTIVE:To evaluate the effects of ESWT on the pain after hip replacement.DESIGN,TIME AND SETTING:Case self-control,double-blind evaluation.The experiment was performed at the Department of Orthopaedics,Zhongnan Hospital,Wuhan University between June 2004 and February 2008.PARTICIPANTS:Fifty-one cases(61 hips) undergoing total hip replacement with pain were selected,including prosthetic loosening(cemented:16 cases,20 hips;non-cement:12 cases,16 hips),ectopic ossification(8 cases,10 hips),acute infection(4 cases,4 hips),chronic infection(5 cases,5 hips),soft tissue aseprtic inflammation(4 cases,4 hips) and acetabulum dislocation(2 cases,2 hips).METHODS:These patients received sessions of ESWT(4 000 shocks,3 times/s),with an energy ranging from 0.54 to 1.06 MJ/mm2,once a week for 8-12 weeks.MAIN OUTCOME MEASURES:Visual analog scale(VAS),Harris hip scores,diversity of the sclerotin surrounding the prosthesis(X-ray).RESULTS:The 51 patients were followed up for 18-64 months(4.1years in average),and 2 died during this period.The scores of VAS in non-cement,chronic infection,ectopic ossification and soft tissue aseprtic inflammation groups were significantly decreased than before treatment(P