A novel mis-sense mutation (G1381A) in the G6PD gene identified in a Chinese man

Objective　To detect new mutations among 29 glucose-6-phosphate dehydrogenase (G6PD) deficient individuals from Yunnan province. Methods　The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals. Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing. Results　Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified. Nine cases remained to be defined. The G1381A mutation is a novel mis-sense mutation, with a substitution of threonine for alanine (A461T). The resultant G6PD had reduced enzymatic activity. In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation. Conclusion　A novel mis-sense mutation G1381A was found. This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity. The loss of the Stu I restriction site offers a rapid method for the detection of this mutation.     

Emotional and behavioural problems in Singaporean children based on parent, teacher and child reports

INTRODUCTION: This study aims to determine the prevalence of emotional and behavioural problems in a community sample of Singaporean children aged 6-12 years, and its agreement according to parent, teacher and child reports. METHODS: The Child Behaviour Checklist (CBCL), Teacher Rating Form (TRF) and child report questionnaires for depression and anxiety were administered to a community sample of primary school children. 60 percent of the children sampled (n = 2,139) agreed to participate. Parents of a sub-sample of 203 children underwent a structured clinical interview. RESULTS: Higher prevalence of emotional and behavioural problems was identified by CBCL (12.5 percent) than by TRF (2.5 percent). According to parent reports, higher rates of internalising problems (12.2 percent) compared to externalising problems (4.9 percent), were found. Parent-teacher agreement was higher for externalising problems than for internalising problems. Correlations between child-reported depression and anxiety, and parent and teacher reports were low to moderate, but were better for parent reports than for teacher reports. CONCLUSION: The prevalence rates of emotional and behavioural problems in Singaporean children based on CBCL ratings are comparable to those in the West, but the low response rate and exclusion of children with special needs limit the generalisability of our findings. Singaporean children have higher rates of internalising problems compared to externalising problems, while Western children have higher rates of externalising problems compared to internalising problems.     

A rare case of cutaneous Trichosporon asahii infection in an immunocompromised child

We present an 11-year-old girl who developed neutropenic fever and papulonodular lesions over her limbs and back following chemotherapy for relapsed acute myeloid leukemia. She was found to have cutaneous Trichosporon asahii infection, with no evidence of systemic infection, and responded to treatment with voriconazole. T. asahii infection is rare but often fatal and usually causes disseminated infections in immunocompromised patients. Cutaneous infection is relatively uncommon and rarely occurs in the pediatric population.     

Testicular FSH and hCG receptors in Sertoli-cell-only syndrome

Testicular FSH and hCG receptors were measured in patients with Sertoli-cell-only syndrome (SCOS), and the value of Bmax for each hormone was compared with the value in subjects with normal testes. FSH receptor was detectable in only four of 10 patients, and the mean value of Bmax in four of the 10 patients was clearly lower than that in normal testes (p less than 0.005). On the other hand, hCG receptors were detected in all of six tested patients, and the mean value of Bmax was lower, but not remarkably so, than that in the normal testes. The function of Sertoli cells was remarkably impaired in most men with SCOS, whereas the function of Leydig cells was relatively preserved.     

Combined intracavitary and external beam irradiation for superficial transitional cell carcinoma of the bladder: an alternative to cystectomy for patients with recurrence after intravesical chemotherapy

A total of 17 patients with superficial transitional cell carcinoma of the bladder underwent treatment with pelvic external beam irradiation followed by an intracavitary 137cesium implant via a triple lumen Foley catheter. Of these patients 11 had recurrent and multifocal superficial cancer, with 8 having relapse after prior intravesical chemotherapy. External beam doses of 3,600 to 5,066 cGy. were followed by implant doses delivering 2,000 to 3,200 cGy. to the bladder mucosa, with the sum of external and intracavitary doses totaling 6,500 to 7,500 cGy. Of 15 patients evaluable with a median followup of 48 months, and including 13 followed for more than 2 years, 11 (73 per cent) remain free of disease, 3 (20 per cent) have recurrence in the bladder but have retained the bladder and only 1 has required cystectomy. All 4 failures occurred in the subgroup of 8 patients who had received prior intravesical chemotherapy. This bladder-sparing approach is well tolerated, is an alternative to cystectomy in patients with recurrent superficial transitional cell carcinoma of the bladder and in our series has salvaged 50 per cent (4 of 8) of the patients even after failure of intravesical chemotherapy.     

Kaposi Sarcoma in a Patient with Chronic Renal Failure Undergoing Dialysis

Kaposi sarcoma (KS) is a multicentric proliferative vascular tumor involving the skin and other organs. Human herpesvirus 8 (HHV-8) has been detected in KS lesions and is considered the putative causative agent of KS. The relationship between chronic renal failure, HHV-8, and KS is not clear. KS appears to develop in association with renal transplantation, but is unlikely with dialysis, and there have been few reports on this. Here, we report the case of a 51-year-old man, who underwent peritoneal dialysis to treat chronic renal failure, and presented with multiple brownish plaques on his soles. On histopathological examination, abnormally proliferated vessels, vascular slits, and spindle-shaped cells were seen in the dermis. Immunohistochemical staining for HHV-8 was positive. This case is another example in which factors other than immunosuppression contributed to the development of KS, due to activation of HHV-8.     

Allergic contact dermatitis from grasses

This study attempts to demonstrate the existence of allergic contact dermatitis from grass, and to develop a patch test series to screen patients with grass intolerance. 6 common grass species from lawns and military training areas were collected. Solvent extracts of polar. non-polar and volatile fractions were prepared and used for patch testing in 20 control subjects and 46 patients with a history of grass intolerance. The 20 control had negative responses to patch testing. 5 out of 46 patients had positive patch tests to Axonopus compressus (carpet grass). Ischaenmum muticum (sea-shore centipede grass). Imperata evlindrica (lalang). Panicum maximum (Guinea grass) and Pennisetum purpureum (elephant grass). Reactions to the non-polar fraction for all 5 species were noted. This study demonstrates the existence of allergic contact dermatitis from various common species of grass. In our series, this is seen in 11% of those with a history of grass intolerance.     

Prospective, randomized clinical trial of intravitreal triamcinolone treatment of neovascular age-related macular degeneration: one-year results

PURPOSE: To investigate the effect of intravitreal injection of high-dose (20-25 mg) triamcinolone acetonide on minimally classic or occult choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD). METHODS: A prospective, double-masked, placebo-controlled, randomized clinical trial included 39 eyes with minimally classic or occult CNV secondary to AMD. The treatment group (21 eyes) received intravitreal injection (20-25 mg) of triamcinolone acetonide and the control group (18 eyes) received intravitreal injection (500 mug) of dexamethasone at 6-month intervals. Best-corrected ETDRS (Early Treatment Diabetic Retinopathy Study) score, contrast sensitivity score, and central macular volume were measured at 1 month, 3 months, 6 months, and 12 months. RESULTS: Mean baseline best-corrected visual acuity (BCVA [logarithm of the minimal angle of resolution]) was 0.64 (Snellen equivalent, 20/80) in each group. At 1 month, 3 months, and 6 months after the injection, neither group had a significant change in BCVA. At 12 months, mean BCVA +/- SD significantly decreased to 1.06 +/- 0.34 (Snellen equivalent, 20/200) in the treatment group (paired t-test, P < 0.001), whereas it was 0.78 +/- 0.52 (Snellen equivalent, 20/125) in the control group (P = 0.23). The difference was marginally significant (P = 0.06, Student's t-test). All phakic eyes in the treatment group developed marked cataract progression. CONCLUSIONS: Intravitreal injection of high-dose triamcinolone had no beneficial effect on eyes with minimally classic or occult CNV secondary to AMD and was associated with outcomes similar to those associated with intravitreal injection of dexamethasone, which was used as placebo.     

A case of fibrous pseudotumor of the spermatic cord

A case of fibrous pseudotumor of the left spermatic cord is reported. The patient was a 4-year-old boy with the complaint of swelling and pain of the left scrotal contents. An intrascrotal tumor was suspected and surgical exploration was carried out. A small tumor was resected and histological examination revealed fibrous pseudotumor. This tumor was not a true neoplasm, but was due to an inflammatory disease. The clinical and histological findings of the tumor are discussed.     

Sézary syndrome: diagnosis, prognosis, and critical review of treatment options

Sézary syndrome is a form of leukemia-lymphoma characterized clinically by erythroderma, pruritus, adenopathy, and circulating atypical cells with cerebriform nuclei. Histologically, atypical lymphocytes in the dermis and Pautrier's microabscesses are often present in skin biopsy specimens. Immunologic findings that support a diagnosis of Sézary syndrome include a predominance of CD4+ lymphocytes in both skin biopsy specimens and peripheral blood. Cytogenetic studies that demonstrate aneuploidy and DNA probe analysis that shows gene rearrangement for the beta-subunit of the T cell receptor are the latest, most sensitive, and specific methods for identifying the clonal nature of the disease. Various staging systems are used. We review the various treatments for Sézary syndrome, including the newer, biologically based investigational therapies, (e.g., antithymocyte globulin, monoclonal antibodies and other immunostimulants, retinoids, cyclosporine, interferon, and extracorporeal photopheresis). Extracorporeal photopheresis and some chemotherapeutic agents appear to produce the best results in terms of response and remission duration with minimal toxicity. However, more multicenter controlled clinical trials are needed to determine the most effective single or combined therapeutic regimen.