Chickenpox ; congenital ; Female ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Pregnancy Complications, Infectious

BACKGROUNDCystic fibrosis (CF) is rare in Chinese. We investigated the mutations in the gene of cystic fibrosis transmembrane conductance regulator (CFTR) in a Chinese CF patient and reviewed the clinical features, gene mutations in Chinese CF cases.

METHODSBlood samples were collected from a previously reported CF girl and her parents. The 24 coding exons of CFTR of the proband were amplified and sequenced.

RESULTSA Chinese girl of 16 years old was diagnosed as CF at the age of 14. She had recurrent productive cough with bronchiectasis in bilateral upper lobes, parasinusitis and otitis media, but without pancreatic involvement. Her sweat chloride was (108.9 +/- 3.3) mmol/L. A heterozygous novel missense mutation of 699 C --> A which results in the amino acid change of N189K was identified in exon 5. In addition, a heterozygous 3821 - 3823 delT mutation in exon 19 was found in CFTR. The mutation 699C --> A was inherited from her father, and the 3821 - 3823 delT mutation was from her mother. Twenty patients with CF in Chinese reported from 1974 to 2004 were also reviewed. DelF508 mutation was not found in the nine cases whose CFTR mutations were analyzed.

CONCLUSIONSThe CF proband carries two heterozygous mutations (699C --> A and 3821 - 3823 delT) in CFTR. 699C --> A mutation is a novel mutation which is not reported previously. Review of reported Chinese cases suggests that the genotype of Chinese CF may be different from those of white cases. More studies are needed to understand the spectra of CFTR and clinical CF features in Chinese.

Adolescent ; Cystic Fibrosis ; complications ; genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; genetics ; Exocrine Pancreatic Insufficiency ; etiology ; Female ; Humans ; Mutation, Missense ; Respiratory Tract Diseases ; etiology

OBJECTIVETo study the clinical outcomes of stage I testis teratoma, including pure teratoma, and to provide information on the treatment options for this disease.

METHODSWe retrospectively analyzed 27 cases of orchiectomy for stage I testis teratoma, excluding epidermoid cyst, and investigated its recurrence associated with treatment methods and clinicopathological factors.

RESULTSFour of the 27 cases relapsed, all in the orchiectomy group and confined to the retroperitoneal region, 3 with and the other 1 without risk factors, but with no death. No recurrence was found in those treated by orchiectomy followed by chemotherapy with bleomycin, etoposide and platinum (BEP). The total rate of recurrence was 15.8%. No severe side effects were observed in the 9 patients undergoing adjuvant BEP chemotherapy.

CONCLUSIONRisk factors may increase the recurrence rate of stage I testis teratoma, while postoperative adjuvant chemotherapy can reduce it, including that of pure teratoma, though surveillance policy remains the most popular option after orchiectomy.

Adolescent ; Adult ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; pathology ; Neoplasm Staging ; Retrospective Studies ; Teratoma ; pathology ; therapy ; Testicular Neoplasms ; pathology ; therapy ; Young Adult

Objective To learn the status of wild freshwater fish and shrimp infected with metacercaria of clonorchis sinensis in Jinhua city.Methods Wild freshwater fish and shrimp were randomly captured in river channel,reservoir and pond from 3 counties according to the distribution characteristics of main river system in Jinhua city.Direct tabletting microscopic examination was used to detect metacercaria of clonorchis sinensis in the muscle of wild freshwater fish and shrimp.Results A total of 1 1 kinds of wild freshwater fish and shrimp were infected with metacercariae,accounting for 61 .1 1 %(1 1 /1 8),and the total infection rate was 5.63% among 2 326 wild freshwater fish and shrimp.The infection rate of fish(8.24%)was significantly higher than that of the shrimp(2.96%)(P <0.01 ).There were significant differences in the infection rate among different counties (P <0.01 ),and the infection rate in the downstream of the water system in Wu water area (1 2.90%)was the highest.Also,significant differences were observed in infection rate among different water environments (P <0.01 ),and the infection rate of pond (1 0.1 8%)was the highest.Significant differences were observed in the infection rate among different kinds of wild freshwater fish (P =0.00),and the infection rate of side skin fish(1 7.65%)and psendorasbora parve(1 7.65%)were the highest.Conclusion There were metacercaria of clonorchis sinensis infection in wild freshwater fish and shrimp with different degrees in Jinhua city.People who ate raw or undercooked freshwater fish and shrimp may be at the risk of infection.

OBJECTIVETo evaluate the effect of the treatments of lumbar spinal stenosis by selective decompression of lumbar root canal and laminectomy.

METHODSFrom March 2007 to March 2011, 144 lumbar spinal stenosis patients were treated by selective decompression of lumbosacral root canal and laminectomy. All of these patients included 64 male and 80 female patients, age range 60-87 years, average (66 ± 5) years. Duration 6-72 months, average (12 ± 16) months. The patients were divided into 2 groups according to surgical procedure underwent: group A including 70 patients who were treated with selective decompression of lumbar root canal, group B including 74 patients who were treated with traditional laminectomy. Five time points were selected to assess clinical effect using Oswestry disability index (ODI) and Japanese Orthopaedic Association (JOA), which were pre-operation and 1 month, 6 months, 12 months and last follow-up. The data were analyzed through Wilcoxon matched-pairs signed-ranks test.

RESULTSAll operations were completed well without severe complications. The duration of follow-up was 12-55 months, average (31 ± 6) months. All patients' symptoms got improved or partial remission. The average pre- and post-operative scores of JOA in group A and B were from 14.0 ± 1.6 to 20.3 ± 1.7, from 13.6 ± 1.7 to 20.2 ± 2.0, respectively, there were significant statistical differences (Z = 2.41 and 2.23, P < 0.05). The average pre- and post-operative scores of ODI in group A and B were from 62% ± 4% to 28% ± 4%, from 63% ± 4% to 27% ± 3%, respectively, there were significant statistical differences (Z = 2.93 and 2.64, P < 0.05).

CONCLUSIONSPersonalized treatment programs should be established for elderly lumbar spinal stenosis according to stenosis location. Laminectomy is carried out with the stenosis in the central spinal canal; selective decompression of lumbosacral root canal is accepted with the stenosis in the nerve root canal without central stenosis.

Aged ; Decompression, Surgical ; Dental Pulp Cavity ; Humans ; Lumbar Vertebrae ; surgery ; Spinal Stenosis ; surgery ; Treatment Outcome