Effects of genetic and nutritional factors on bone mineral density in young adults

To estimate the genetic and dietary factors influencing bone mineral density (BMD) in young adults, a total of 53 healthy volunteers (HV) (age 20.89+/-1.34), from whom informed consent was obtained, answered a questionnaire on dietary factors and had DNA from peripheral blood mononuclear cells analyzed for single nucleotide polymorphisms (SNPs) for vitamin (Vit) D receptor (VDR), estrogen receptor alpha (ERalpha), interleukin 1 receptor antagonist (IL1RA), and apolipoprotein E (ApoE) genes. Daily intakes of Vit C, fiber, soybean and related foods, and green and yellow vegetables showed a correlation with % BMD. In addition, Vit B2 as well as Vit C, and vegetables were identified as important factors for BMD by Stepwise regression analysis. Among the SNPs analyzed, the B+ type of the VDR gene tended to be associated with a lower BMD, and pp type of the ER gene digested by the PvuII enzyme in females indicated a significantly lower BMD than that in males. In addition, these SNPs were also identified by factor analysis to be associated with BMD. These results suggested that a complex array of genetic factors, such as two or more SNPs or SNPs and gender, may be important to BMD.     

Concurrent chemo-radiotherapy for nasopharyngeal carcinoma

OBJECTIVE: Because of the low incidence of nasopharyngeal carcinoma (NPC) in Japan, few studies have reported on the use of concurrent chemo-radiotherapy (CCRT) for treatment of this disease. The present study investigated the efficacy and toxicity of CCRT with Carboplatin (CBDCA) and UFT for NPC. PATIENTS AND METHODS: CCRT with injection of CBDCA and oral administration of UFT was given to 21 patients in our institution during 1996-2000. We compared the patients treated with CCRT with those treated with RT alone from 1976 to 1995 or those treated with RT after chemotherapy (Pre-RT chemotherapy) from 1985 to 1995. Overall survival rate (OS), progression free survival rate (PFS) and cause specific survival (CSS) rate were analyzed. RESULTS: The actual 2-year OS, PFS, and CSS of CCRT were 85.7, 66.7 and 90%, respectively. The rates were improved compared to RT alone (37.9, 31.0, and 56.6%) and Pre-RT chemotherapy (58.8, 41.2, and 64.7%). The most frequent and severe acute toxicities were leukopenia (42.9%) and mucositis with grade 3-4 (28.6%), both of which eventually resolved. CONCLUSION: CCRT with CBDCA and UFT is considered to be an effective, convenient, and tolerable treatment, which improves survival rates for NPC patients. Therefore, we recommend this CCRT method for the treatment of NPC.     

Localised vulva Langerhans cell histiocytosis

A cutaneous lesion as sole manifestation of adult Langerhans cell histiocytosis is rare. We report a 65-year old female who presented with vulvar ulcers. Histological examination of the ulcer showed diffuse proliferation of histiocytic cells with large bright cytoplasm that were positively stained for anti-S-100 protein and anti-CD1a antibodies by immunohistochemistry. Electron microscopy demonstrated Birbeck granules in the cytoplasm of the cells. Since there was no other organ involvement, the patient was treated by complete surgical excision without recurrence or other-organ involvement in the 1-year follow-up period.     

Population survey to determine risk factors for Mycobacterium leprae transmission and infection

BACKGROUND: Not every leprosy patient is equally effective in transmitting Mycobacterium leprae. We studied the spatial distribution of infection (using seropositivity as a marker) in the population to identify which disease characteristics of leprosy patients are important in transmission. METHODS: Clinical data and blood samples for anti-M. leprae ELISA were collected during a cross-sectional survey on five Indonesian islands highly endemic for leprosy. A geographic information system (GIS) was used to define contacts of patients. We investigated spatial clustering of patients and seropositive people and used logistic regression to determine risk factors for seropositivity. RESULTS: Of the 3986 people examined for leprosy, 3271 gave blood. Seroprevalence varied between islands (1.7-8.7%) and correlated significantly with leprosy prevalence. Five clusters of patients and two clusters of seropositives were detected. In multivariate analysis, seropositivity significantly differed by leprosy status, age, sex, and island. Serological status of patients appeared to be the best discriminator of contact groups with higher seroprevalence: contacts of seropositive patients had an adjusted odds ratio (aOR) of 1.75 (95% CI 0.922-3.31). This increased seroprevalence was strongest for contact groups living < or =75 m of two seropositive patients (aOR = 3.07; 95% CI 1.74-5.42). CONCLUSIONS: In this highly endemic area for leprosy, not only household contacts of seropositive patients, but also people living in the vicinity of a seropositive patient were more likely to harbour antibodies against M. leprae. Through measuring the serological status of patients and using a broader definition of contacts, higher risk groups can be more specifically identified.     

Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility

OBJECTIVE: Human low-affinity Fcgamma receptors (FcgammaR) constitute a clustered gene family located on chromosome 1q23, that consists of FcgammaRIIA, IIB, IIC, IIIA, and IIIB genes. FcgammaRIIB is unique in its ability to transmit inhibitory signals, and recent animal studies demonstrated a role for FcgammaRIIB deficiency in the development of autoimmunity. Genetic variants of FcgammaRIIA, IIIA, and IIIB and their association with systemic lupus erythematosus (SLE) have been extensively studied in various populations, but the results were inconsistent. To examine the possibility that another susceptibility gene of primary significance exists within the FcgammaR region, we screened for polymorphisms of the human FCGR2B gene, and examined whether these polymorphisms are associated with SLE. METHODS: Variation screening of FCGR2B was performed by direct sequencing and polymerase chain reaction (PCR)-single-strand conformation polymorphism methods using complementary DNA samples. Genotyping of the detected polymorphism was done using genomic DNA, with a specific genotyping system based on nested PCR and hybridization probing. Association with SLE was analyzed in 193 Japanese patients with SLE and 303 healthy individuals. In addition, the same groups of patients and controls were genotyped for the previously known polymorphisms of FCGR2A, FCGR3A, and FCGR3B. RESULTS: We detected a single-nucleotide polymorphism in FCGR2B, (c.695T>C), coding for a nonsynonymous substitution, Ile232Thr (I232T), within the transmembrane domain. The frequency of the 232T/T genotype was significantly increased in SLE patients compared with healthy individuals. When the same patients and controls were also genotyped for FCGR2A-131R/H, FCGR3A-176V/F, and FCGR3B-NA1/2 polymorphisms, FCGR3A-176F/F showed significant association. Two-locus analyses suggested that both FCGR2B and FCGR3A may contribute to SLE susceptibility, while the previously reported association of FCGR3B was considered to be secondary and derived from strong linkage disequilibrium with FCGR2B. CONCLUSION: These results demonstrate the association of a new polymorphism of FCGR2B (I232T) with susceptibility to SLE in the Japanese.     

Management of posterior capsule rupture during phacoemulsification using the dry technique

To manage posterior capsule rupture during phacoemulsification, we use a dry technique in which all procedures are performed without an irrigation/aspiration system. The dry technique is characterized by (1) continuous viscoelastic injection instead of fluid irrigation to maintain anterior chamber depth with the posterior capsule and vitreous located posteriorly and (2) static removal of most residual lens material by viscoexpression and/or manual small incision extracapsular cataract extraction without aspiration and dynamic water flow. In 16 cases of posterior capsule rupture managed using the dry technique, the residual nucleus and cortex were readily removed with minimum extension of the ruptured area and new vitreous loss. Although large amounts of viscoelastic material (mean 5.8 mL) were required, rapid and stable visual recovery was comparable to that in patients having uneventful surgery. The dry system is a safe and reliable technique for managing posterior capsule rupture during phacoemulsification.     

Seroprevalence rates of antibodies to phenolic glycolipid-I among school children as an indicator of leprosy endemicity

In order to study whether the seroprevalence of antibodies to phenolic glycolipid-I (PGL-I) among school children is a useful indicator of the leprosy problem in certain areas, school surveys were carried out. These surveys have the advantage of targeting an easily accessible, stable and standardized population. Antibodies to the species-specific PGL-I of Mycobacterium leprae were detected in a simple gelatin particle agglutination test. We have determined the seroprevalence rates in 2835 school children from five different areas in three provinces of Sulawesi, Indonesia. Three areas with a case-detection rate of over 3.4/10,000 were designated as high-endemic areas. The other two were designated as low-endemic areas, having a case-detection rate of less than 1/10,000. The seroprevalence rates in the three high-endemic areas ranged from 26% to 28% (95% CI 21%-31%). In both low-endemic areas the seroprevalence rate was 7% (95% CI 5%-10%). In a second survey conducted in one high-endemic area 3 years after the first survey, the seroprevalence rate was the same as in the first survey. These results indicate that seropositivity rates among school children may reflect the leprosy incidence. They illustrate the potential applicability of seroprevalence as an indicator of the magnitude of the leprosy problem in a selected area.     

p16INK4a inactivation is not frequent in uncultured sporadic primary cutaneous melanoma

In an attempt to examine whether the inactivation of p16INK4a is an important early event in the development of sporadic melanoma in vivo, we have systematically analysed 46 uncultured primary cutaneous melanomas. Loss of heterozygosity (LOH) of chromosome region 9p21-22 (where the p16INK4a resides) was detected in 11 tumours (24%) by PCR-based LOH analyses. Direct sequencing of all three exons of the p16INK4a gene in these 11 tumours revealed no somatic mutation although germline mutations which have not been reported previously as common polymorphisms were detected in two patients. Further sequencing analyses of the p16INK4a gene exon 2 in 19 additional tumours with no evidence of LOH on 9p21-22 identified only one heterozygous C- >T mutation at codon 81 altering a proline to a leucine. A sensitive methylation-specific PCR assay did not reveal de novo methylation of the 5'CpG island in exon 1 of the p16INK4a gene in any of the tumours showing 9p21-22 allelic loss or a heterozygous p16INK4a mutation. Complete loss of p16INK4a protein, most likely due to homozygous deletion of the p16INK4a gene, was observed in 6 (15%) out of 39 evaluable cases by immunohistochemical analyses on frozen sections using two different anti-p16INK4a antibodies. The results show that inactivation of p16INK4a is not as frequent in primary melanoma as has been reported in cell lines, and warrant further search for another tumour suppressor on 9p21-22. This study also emphasizes the importance of examining uncultured primary tumours rather than cell lines to define early events in tumorigenesis.     

A case of left main bronchial rupture due to bronchocath tube

A 68-year-old woman underwent a right upper lobectomy for lung cancer. After resection, we noticed the left main bronchial rupture due to bronchocath tube (polyvinyl chloride double lumen tube). The lesion of the rupture was repaired by interrupted sutures with 4-0 prolene. Subsequent course of the patient was uneventful. Tracheobronchial rupture is rare complication of intubation with polyvinyl chloride double lumen tube. There are 6 cases of this complication last five years in Japan. The cause and prevention of this complications are described. It is important to use an adequate tube size, to prevent malposition of the tube and overinflation of the bronchial balloon.