OBJECTIVETo investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis.

METHODSFive patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions.

RESULTSAll patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded.

CONCLUSIONThe hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.

Base Sequence ; DNA Mutational Analysis ; Dwarfism ; genetics ; Exons ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Receptor, Fibroblast Growth Factor, Type 3 ; genetics

OBJECTIVETo analyze clinical symptoms and disease-causing mutations of corneodesmosin (CDSN) gene in a Chinese family affected with hypotrichosis simplex of the scalp and to establish a method for prenatal diagnosis.

METHODSFamily survey and clinical examinations were carried out to determine the inheritance pattern. Three patients and 7 unaffected relatives from the family, in addition with 100 unrelated healthy controls were recruited. Genomic DNA from peripheral blood leukocytes was extracted. Five pairs of primers were designed based on the CDSN gene sequence. Exons and flanking regions of the CDSN gene were amplified using polymerase chain reaction (PCR). Potential mutations were analyzed through direct sequencing and comparison by BLAST.

RESULTSThe type of alopecia of the family was diagnosed as hypotrichosis simplex of the scalp with an autosomal dominant inheritance pattern. A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family, which resulted in a premature stop codon (Y239X). The same mutation was not found among healthy members of the family and 100 healthy controls.

CONCLUSIONA Chinese family was diagnosed with hypotrichosis simplex of the scalp, which was caused by a novel nonsense mutation (Y239X) in the CDSN gene.

Alopecia ; genetics ; China ; Codon, Nonsense ; Female ; Glycoproteins ; genetics ; Humans ; Hypotrichosis ; genetics ; Male ; Middle Aged ; Pedigree ; Scalp

Disease Management ; Humans ; Pulmonary Disease, Chronic Obstructive ; diagnosis ; drug therapy ; surgery

Objective To evaluate the application value of the up-converting Phoshor technology immunochromatography for HBV large envelope protein (HBV-LP) quantitative determination strip in hepatitis B patients.Methods Serum HBV-LP was detected by a new UPT-based immunochromatograhpic technology,and HBV DNA was quantitively detected by real time fluorescent quantitation polymerase chain reaction (RT-PCR),HBV five serum markers were detected by chemiluminescence method.Results In 500 cases of patients with hepatitis B,HBV-LP and HBV DNA positive rates were 58.0％ and 42.2％ respectively,there was significant difference between the positive rate of HBV DNA and that of HBeAg(P ＜ 0.01); In 215 cases of HBeAg negative specimens,the positive rates of HBV DNA and HBV-LP were 29.3％ and 37.2％ respectively,the difference was statistically significant (P ＞ 0.05); and HBeAg positive rate was 57.0％,there was significant difference between the positive rate of HBV DNA and that of HBeAg (P ＜ 0.01).Conclusion HBV-LP detected by UPT method can be used for the evaluation of viral replication and prognosis of patients with HBeAg negative and HBV DNA low copies patients.Combing detection of HBV DNA,HBV-LP and HBeAg is conducive to the judgment of HBV replication level and determination of antiviral treatment end point.

Objective To explore the effect of clinic professional nursing guidelines in nursing admini stration.Methods Clinic professional nursing guidelines were formulated according the specific condition in different apartment,the content includes two parts: routine disease care and symptom nursing guideline.Five departments of respiratory medicine,neurosurgery,oncology,orthopedic surgery and oncology radiation were randomly selected as studying subjects and the data was compared before and after guidelines.Results Neurosurgery was selected as a representation,basic nursing quality as(2.223 ±0.315),satisfaction degree was(41.26 ±3.25)before guideline and(3.122 ±0.214)and(46.12 ±5.26)after guideline respectively.The differences were statistically significant (t =21.833,12.740; P＜0.05 or ＜0.01).Conclusions Application of clinic professional nursing guidelines could standardize the nursing behavior and provide scientific,accurate,professional and practical nursing guidelines for first-line nurses,especially for those on further training,new graduate and new to switch department nurses,and raise the work effect and guarantee the work quality,reduce the nursing risk and ensure the nursing safe for them.

OBJECTIVETo investigate COX-2 expression in patients with gastric cancer and its relationship with angiogenesis and clinicopathologic features of gastric cancer.

METHODSCOX-2 expression and CD34-stained microvessel density (MVD) were detected by immunohistochemical methods in specimens from 96 patients with gastric cancer. The correlations among COX-2 expression, MVD and clinicopathologic features were analyzed.

RESULTSThe COX-2 positive rate and MVD in gastric cancer were significantly higher than those in the normal gastric mucosa (80.2% vs. 13.3%; 32.5+/- 8.3 vs. 13.1+/- 2.4, all P< 0.01). The COX-2 positive rate and MVD in the patients with stage III and IV were significantly higher (91.4% and 34.9+/- 8.7 respectively, P< 0.01), than that in the patients with stage I and II. The COX-2 positive rate and MVD in the cases with lymph node metastasis were 87.9% and (35.0+/- 8.5) respectively, higher than those in the cases without lymph node metastasis (P< 0.05). The Spearman rank correlation test showed a significant correlation between COX-2 expression and tumor MVD (r=0.311, P< 0.01).

CONCLUSIONSCOX-2 plays an important role in gastric cancer angiogenesis. COX-2 and angiogenesis induced by COX-2 contribute to tumor invasion and lymph node metastasis.

Adult ; Aged ; Cyclooxygenase 2 ; metabolism ; Female ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Neoplasm Staging ; Neovascularization, Pathologic ; metabolism ; pathology ; Stomach Neoplasms ; metabolism ; pathology

Objective To explore the clinical effects of Ilizarov technology combined with closed minimally invasive osteotomy and slow tissue distraction in the treatment of complex crus malformations.Methods From June 2006 to February 2016,83 cases suffering complex crus malformations in our department were treated by Ilizarov technique combined with closed minimally invasive osteotomy and slow tissue distraction.Of whom,39 cases were traumatic bone defect,36 cases were bone osteomyelitis,8 cases were congenital pseudarthrosis of tibia.Bone defect ranged from 6 to 11 cm,with an average of 8 cm.All cases were conducted by segmental resection of bone lesions combined with closed minimally invasive osteotomy and Ilizarov technique.The functional evaluation was carried out according to the Paley evaluation criterion.Bone healing time,duration of external fixation,postoperative limb lengthening and limb function recovery were recorded.Results Eighty-three patients were followed up for 8 to 36 months,with an average of 16 months.All patients' crus malformations were completely corrected.The external fixation time was from 6 to 18 months,with an average of 10.3 months;the length of the limb lengthening was from 4.5 to 9 cm,with an average of 6.3 cm;and bone healing time was from 6 to 15 months,with an average of 9.8 months.According to the Paley evaluation criterion,53 cases were excellent,24 cases were good,6 cases were general.Conclusion Ilizarov technology combined with closed minimally invasive osteotomy and slow tissue distraction a reliable method to correct the complex deformity of the tibia and fibula.

OBJECTIVETo identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas.

METHODSTwo patients, five unaffected relatives of the family and 100 unrelated healthy controls were collected. The coding sequences and intron/exon boundaries of EXT1 gene were amplified with polymerase chain reaction (PCR) and sequenced.

RESULTSA heterozygous c.600G>A (p.Trp200X) mutation in exon 1 of the EXT1 gene was detected in the patients. The same mutation was not found in unaffected family members and 100 healthy controls.

CONCLUSIONThe hereditary multiple osteochondromas in the family is caused by a nonsense mutation (p.Trp200X) in the EXT1 gene.

Asian Continental Ancestry Group ; genetics ; Child ; Exostoses, Multiple Hereditary ; diagnosis ; genetics ; Female ; Heterozygote ; Humans ; Male ; Mutation ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree

BACKGROUNDTo study the characters of high-frequency oscillations (HFOs) in the seizure onset zones (SOZ) and the nonseizure onset zones (NSOZ) in the electrocorticography (ECoG) of patients with neocortical epilepsy.

METHODSOnly patients with neocortical epilepsy who were seizure-free after surgery as determined with ECoG were included. We selected patients with normal magnetic resonance imaging before surgery in order to avoid the influence of HFOs by other lesions. Three minutes preictal and 10 min interictal ECoG as recorded in 39 channels in the SOZ and 256 channels in the NSOZ were analyzed. Ripples and fast ripples (FRs) were analyzed by Advanced Source Analysis software (ASA, The Netherlands). Average duration of HFOs was analyzed in SOZ and NSOZ separately.

RESULTSFor ripples, the permillage time occupied by HFOs was 0.83 in NSOZ and 1.17 in SOZ during the interictal period. During preictal period, they were 2.02 in NSOZ and 7.93 in SOZ. For FRs, the permillage time occupied by HFOs was 0.02 in NSOZ and 0.42 in SOZ during the interictal period. During preictal period, they were 0.03 in NSOZ and 2 in SOZ.

CONCLUSIONSHigh-frequency oscillations are linked to SOZ in neocortical epilepsy. Our study demonstrates the prevalent occurrence of HFOs in SOZ. More and more burst of HFOs, especially FRs, means the onset of seizures.

Adolescent ; Adult ; Child ; Electrocorticography ; Electroencephalography ; Epilepsy ; physiopathology ; Female ; Humans ; Male ; Seizures ; physiopathology ; Young Adult

OBJECTIVETo describe the clinical and epidemiological features of dead cases with human Streptococcus suis infections, and to find the target population for preventing death and the related indicators.

METHODSEpidemiological investigation on human Streptococcus suis infections was implemented used unified questionnaires. Analysis on dead cases and survival cases (as contrast) was done.

RESULTSThe population with highest fatality rate was in 40-49 age group. 97.37% of dead cases had toxic shock syndrome. The mean interval from onset to admission was 0.76 days, and the mean course was 2.11 days. The progression among dead cases was faster than that among survival cases. Chief clinical manifestations of dead cases that are more frequent than survival cases are purpura (73.68%), diarrhea (50.0%), dyspnea (21.05%), conjunctival congestion (34.21%), etc. Renal impairment and liver involvement in dead cases were more significant than that in survival cases. No significant difference between mean incubation period, exposure rates of main risk factors in dead cases and in survival cases was found.

CONCLUSIONPreventing toxic shock syndrome might reduce the fatality rate. The target population for preventing death is aged > or = 40. Liver function and renal function testing might be indicators for monitoring the progression of human Streptococcus suis infections.

Adult ; Aged ; China ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Streptococcal Infections ; blood ; microbiology ; mortality ; pathology ; Streptococcus suis ; physiology ; Young Adult