Objective To report a family with lipoid proteinosis (LP) from Shandong province and to analyze mutations in the extracellular matrix protein 1 (ECM1) gene in this family.Methods Eight members in a threegeneration family with LP were clinically investigated,and two patients were identified to suffer from LP,including the proband (Ⅲ 1) and her mother (Ⅱ 2).Both of the patients presented with papules on the palpebral margin,short and thick lingual frenum,and hoarseness.Indirect laryngoscopy showed infiltrating and thickening of the vocal cord.Pathological examination of lesions on the palpebral margin and laryngeal mucosa revealed deposits of hyaline-like material in the dermis,which was strongly positive for periodic acid-Schiff (PAS) staining and resistant to diastase digestion.The pathological diagnosis was LP.Blood samples were collected from all the family members and 100 ethnically matched,unrelated and unaffected Chinese human controls followed by DNA extraction.PCR and sequencing were performed to detect the ECM1 gene,and nested PCR followed by agarose gel electrophoresis to analyze mutations in the coding region of the ECM1 gene.Results Both of the two patients were compound heterozygotes.Three missense mutations,incluing p.P169T,p.A44T and p.R392W,were found in the ECM1 gene of the affected mother,with p.P169T in one allele and p.A44T as well as p.R392W in the other.The girl patient inheried the missence mutation p.P169T from her mother and a synonymous mutation c.879G ＞ A from her father (Ⅱ 1).Nested PCR showed that the c.978G ＞ A mutation generated a splice-acceptor site AG,which leaded to a splicing defect.Conclusion A novel synonymous splice-acceptor site mutation c.879G ＞ A in the ECM1 gene is identified in the family with LP.

The cholinesterase(ChE)and lactate dehydrogenase(LDH)activities in blood smears of 37 patients were observed before and 20 minutes after electroacupuncture.Hegu and Zusanli were mainly chosen as the acupuncture points.Karnovsky method was used to demonstrate ChE,activity,and tetrazolium-formazan reaction for LDH activity. Before acupuncture,all formed elements of blood showed both ChE and LDH acti- vities.In red blood cells ChE and LDH activities were localized at the cell membrane, while in white blood cells they were found throughout the cytoplasm as colored granu- les.The granulocytes showed greater ChE and lesser LDH activities than the lymph- ocytes.The platelets also showed greater LDH and ChE activities,especially the former. On the whole,platelets and leucocytes,as compared with erythrocytes,showed greater activities for ChE and LDH. Under microscopic observation,according to the amount and color of granules,the degrees of GhE and LDH activities for each kind of blood formed elements before and after acupuncture were recorded as different markes,such as +、++、+++ and so on.The degrees of GhE or LDH activity in various formed elements of blood were compared by means of statistical tests.After acupuncture,both GhE and LDH activities of all blood formed elements were increased(p

70 patients including 60 cases under acupuncture anesthesia and 10 cases under drug anesthesia were observed. Before and 20 minutes after acupuncture the blood samples were taken from the patient ear lobes respectively, and in some patients taken once again 24 hrs after acupuncture. The electroacupuncture point Hegu or Zusanli was mainly adopted. As the method for detection of cell-mediated immunity(CMI) in vitro the improved microtechnique of whole blood for E-rosette (active and nonactive) and lymphocyte transformation tests was used. In performance of active rosetting the total leucocyte count and the differential lymphocyte count were done for calculation of absolute number of active rosette forming cells (RFC). The mean value of increase of active RFC was 12.7?1.43, the decrease was 6.8?1.77 after acupuncture. The increment of the absolute number of active RFC was 175?63.59. However no marked effect on the drug anesthesia group was found. In the lymphocyte transformation assay the increase was 12.7?1.49, the decrease was 7.0?2.19, and the enhancement effect still exhibited 24 hrs after acupuncture. In these tests an increase was mostly found in those with a lower or a usual CMI level; a decrease often found in those with a higher CMI level prior to acupuncture. The increase or decrease level in the results of three kinds of test (active, nonactive RFC and lymphocyte transformation) was similar, the increase range was 12～13%, the decrease range 6～7%. As the former compared with the latter, the promotion was prominent by all means.

ObjectiveTo investigate the health status and incidence of alcohol abuse of Xinjiang community residents.MethodsThrough multi-stage random sampling,1992 community residents ( 15-65years old) were assessed using socio-demographic information questionnaire,alcohol use disorders identification test (AUDIT) and self-rated health measurement scale-prior test(SHRMS).Single factor analysis and rank sum test were used to identify the incidence of alcohol abuse,the distribution of different populations,and the self-rated health status of abusers.ResultsTotally 298 cases of alcohol abuse were identified,and accordingly,the prevalence rate of alcohol abuse for general population was 15.1％ ( male 26.4％,female 4.8％ ).Key factors for alcohol abuse included male,middle-aged,well-educated,at work,administrative work,high income levels and large number of household.The differences among groups were statistical significant.Presumably the workplace population was at high risk of alcohol abuse.Alcohol abusers were significantly worse than general population in self-rated health status(P ＜ 0.01 ),especially in mental health and social health.ConclusionThe incidence of alcohol abuse is relatively high in Xinjiang rcgion,and the problem need more attention.Further survey and early intervention work for highrisk group are advised to achieve the purpose of prevention and control.

Objective To study and to optimize culture conditions of islet-like cells induced in vitro from fetus bone marrow(BM) mesenchymal stem cells(MSCs).Methods BM was obtained from miscarried human fetus.The MSCs between three to eight passages were used to differentiate into islet-like clusters-through three stages of culture supplemented with 2mercaptoethanol,epidermal growth factor(EGF),basic fibroblast growth factor(bFGF),B_(27) and nicotinamide.Results The 2nd stage cells expressed nestin and/or panceatic and duod-enal homeobox 1(PDX-1),and the 3rd stage cells formed islet-like clusters expressing insulin and glucagon together with positive dithizone staining.Specific insulin secretion could be detected(81.3?23.6?u /ml) from differentiated MSCs which have the capacity to respond to different glucose concentrations.Conclusion Fetal bone marrow MSCs can be differentiated into pancreatic islet-like clusters,and 20mmol/L nicotinamide could be the optimal concentration in culture.

OBJECTIVETo detect the disease-causing mutation in a pedigree affected with autosomal dominant congenital cataract.

METHODSGenomic DNA was extracted and purified from peripheral blood samples from members of the pedigree and 100 healthy controls. Coding regions of 18 candidate genes were screened with PCR and Sanger sequencing. Identified mutations were verified among 100 healthy individuals to exclude single nucleotide polymorphisms.

RESULTSA heterozygous nonsense mutation c.471G>A of the CRYGD gene, which resulted in p.Trp157Term, was identified in all three patients. The same mutation was not found in the two normal individuals from the family and 100 healthy controls. The nonsense mutation was predicted to be "disease causing" by Mutation t@sting program.

CONCLUSIONThe nonsense mutation c.471G>A of the CRYGD gene probably underlies the congenital cataract in the pedigree.

Cataract ; etiology ; genetics ; Child ; Codon, Nonsense ; Humans ; Male ; Sequence Analysis, DNA ; gamma-Crystallins ; genetics

OBJECTIVETo identify potential mutations of PKD1 gene in a family affected with autosomal dominant polycystic kidney disease (ADPKD).

METHODSThe coding regions of the PKD1 gene were subjected to PCR and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was used to determine the relative mRNA expression in the patient.

RESULTSA splicing site mutation, c.8791+1_8791+5delGTGCG (IVS23+1_+5delGTGCG), was detected in the PKD1 gene in all 5 patients from the pedigree but not in 6 phenotypically normal relatives and 40 healthy controls. Sequencing of RNA has confirmed that there were 8 bases inserted in the 3' end of exon 23 of the PKD1 gene.

CONCLUSIONThe novel c.8791+1_8791+5delGTGCG mutation has created a new splice site and led to a frameshift, which probably underlies the ADPKD in the family. Above finding has enriched the mutation spectrum of the PKD1 gene.

Adult ; Female ; Humans ; Male ; Mutation ; genetics ; Pedigree ; Polycystic Kidney, Autosomal Dominant ; genetics ; RNA Splicing ; genetics ; TRPP Cation Channels ; genetics ; Young Adult

OBJECTIVETo identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH).

METHODSPCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples.

RESULTSA splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls. RT-PCR confirmed that exon 21 of the PHEX gene was deleted.

CONCLUSIONThe novel splicing mutation IVS21+2T>G of the PHEX gene probably underlies the XLH in this pedigree. At the mRNA level, the mutation has led to removal of exon 21 and shift of the open reading frame (p.Val691fsx), resulting in premature termination of protein translation.

Adult ; Base Sequence ; DNA Mutational Analysis ; Exons ; Familial Hypophosphatemic Rickets ; genetics ; Female ; Genetic Diseases, X-Linked ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase ; genetics ; Pedigree ; RNA Splicing ; Young Adult

With in-depth research and development of dermoscopy, the dermoscopic features including perifollicular pigments, perilesional pigments, pigment network structure, satellite phenomenon and "tapioca sago" appearance, micro-Koebner phenomenon and comet tail-like phenomenon have provided a basis for the evaluation of vitiligo activity. This review summarizes progress in the evaluation of vitiligo activity with dermoscopy in recent years, aiming to promote the application of dermoscopy in the assessment of vitiligo activity.