Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations

Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of glucose transporter 2 (GLUT2) gene.     

Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count

Inflammatory bowel disease (IBD)-like colitis is a known entity in glycogen storage disease (GSD) type 1b patients. The mean age of the reported cases with IBD-like colitis was 12 +/- 5 years, and all had absolute neutrophil count (ANC) less than 1,000 cells/microl. We report a three-year-old girl with GSD type 1b that was dignosed by mutation analysis. The patient was hospitalized with fever, diarrhea, and perioral and anal ulcers. Colonoscopy was performed and IBD-like colitis was diagnosed. The patient had elevated platelet count beyond the age of three months, but IBD-like colitis was diagnosed at three years of age. An elevated platelet count may be a warning sign for the IBD-like colitis in young patients with GSD type 1b.     

Antibody titers and immune response to diphtheria-tetanus-pertussis and measles-mumps-rubella vaccination in children treated for acute lymphoblastic leukemia

The objective of this study was to investigate the diphtheria-tetanus-pertussis and/or measles-mumps antibody titers before and after vaccination at various time points of acute lymphoblastic leukemia (ALL) therapy and to suggest an appropriate vaccination approach for ALL patients. The authors studied 37 ALL patients and 14 healthy control subjects, divided into three groups. In group 1 (newly diagnosed patients), baseline anti-diphtheria, anti-tetanus, and anti-pertussis titers were determined. Patients in group 2 (on maintenance chemotherapy) and group 3 (patients not receiving therapy for 3-6 months) were vaccinated with diphtheria-tetanus with or without acellular pertussis; group 3 and control subjects were also given measles-mumps-rubella vaccine. Preimmunization and 1-month postimmunization titers were drawn. Preimmunization anti-diphtheria and anti-tetanus antibody titers between the groups and the controls were statistically similar. The seropositivity rate for anti-measles antibody in group 3 was significantly lower than controls. After vaccination, all of the patients developed protective anti-diphtheria and anti-tetanus antibody titers. The seroconversion rates of group 3 and controls for anti-measles and anti-mumps antibodies were statistically similar. The results showed that patients on maintenance therapy and after cessation of therapy made good antibody responses to diphtheria and tetanus toxoids, but response to measles and mumps vaccines was not as sufficient as toxoid vaccines. Children with ALL can receive the appropriate vaccines during and after maintenance treatment.     

Immunological patterns identifying disease course and evolution in multiple sclerosis patients

Reliable, and easy to measure, immunological markers able to denote disease characteristics in multiple sclerosis (MS) patients are still lacking. We applied a multivariate statistical analysis on results obtained by measuring-by real-time RT-PCR-mRNA levels of 25 immunological relevant molecules in PBMCs from 198 MS patients. The combined measurement of mRNA levels of IL-1beta, TNF-alpha, TGF-beta, CCL20 and CCR3 was able to distinguish MS patients from healthy individuals. CXCR5, CCL5, and CCR3 combined mRNA levels identify primary progressive MS patients while TNF-alpha, IL-10, CXCL10 and CCR3 differentiate relapsing MS patients. Our results indicate that multi-parametric analysis of mRNA levels of immunological relevant molecules in PBMCs may represent a successful strategy for the identification of putative peripheral markers of disease state and disease activity in MS patients.     

Depilatory cream vs. shaving: does it influence recurrences of genital warts?

Genital warts are common infections caused by human papilloma viruses (HPV). Although the diagnosis is straight forward and many different treatment choices are present, recurrences are almost inevitable. There are many factors influencing recurrences such as immunity, HPV types, sexual partnership, and hygiene. Hair removal methods may be an issue in recurrence. In this retrospective study, the recurrence rate of genital warts in 50 patients using depilatory creams or shaving as a regular hair removal method before and after treatment by electrocauterization were evaluated. Both methods showed no difference in recurrence rates. Therefore, no depilatory method can be advised as decreasing genital recurrence of genital warts.     

Balloon angioplasty of popliteal and crural arteries in elderly with critical chronic limb ischemia

OBJECTIVE: Elderly patients with extensive infrainguinal peripheral vascular disease and critical chronic limb ischemia (CCLI) are poor surgical candidates. Our purpose was to evaluate angiographic and clinical results of popliteal, infrapopliteal, and multi-level disease percutaneous transluminal angioplasty (PTA) in such patients. DESIGN: Retrospective study of angiographic and clinical files in selected group. MATERIALS AND METHODS: Between 1996 and 2002, 38 elderly patients aged 80-94 years old (mean age 83.3) with critical leg ischemia were treated with PTA. All patients were at high surgical risk. 31/38 (81.5%) patients had chronic non-healing wounds, and 14/38 (37%) had multi-level disease of superficial femoral, popliteal and crural arteries. One hundred and two lesions were treated by angioplasty. Immediate angiographic and 1 year clinical results were retrospectively analyzed. RESULTS: The overall procedural success rate was 32/38 (84.2%). There were three major complications (7.9%), but no deaths, and three technical failures, all were of infrapopliteal lesions. After 1 year, 27 patients could be followed, five patients died during the first year of unrelated causes. Twenty-three patients (85.2%), were clinically re-occluded within 1 year, but complete and partial wound healing was achieved in 80% (16/20) and rest pain improvement in 57% (4/7), so that overall limb salvage was 74% (20/27). CONCLUSIONS: Elderly patients with multi-level CCLI have a short patency term following angioplasty of 14.8% after 1 year. Nevertheless, this temporary vascular patency enables wound healing or improvement in 74% of these patients, thus such endovascular interventions are recommended in this age group.     

Defective enamel ultrastructure in diabetic rodents

We investigated six different types of diabetic rodents. Four expressed a genetic obesity resulting in diabetes. One developed diabetes induced by a diet-dependent obesity, and one with genetic diabetes received anti-diabetic medication. The tooth samples were examined under a scanning electron microscope and with an energy dispersive microanalysis (EDX). The electron micrographs showed severe, varying degrees of damage within the six different diabetic animal types, such as irregular crystallite deposition and prism perforations in genetically obese animals compared to less-disordered prism structures in diet-dependent obesity. Anti-diabetic medication resulted in normal enamel ultrastructure. The EDX analysis revealed a reduction in the amount of calcium and phosphorus in all regions affected by diabetes. Based on these animal studies, we suggest that both juvenile diabetes type I (in infants) and adult diabetes type II (in pregnant mothers, affecting the developing foetus) may affect the normal development of teeth in humans.     

The use of human dura mater as an interposition graft in the treatment of vesicovaginal fistula

PURPOSE: In this prospective study we aimed to describe our new technique; dehydrated human dura mater as an interposition graft in patients undergoing benign vesicovaginal fistula repair (VVF). PATIENTS AND METHODS: Eleven patients with benign VVFs aged 38-73 years were operated with dura mater interposition technique at our institution between July 1996 and February 2002. In all patients fistula were secondary to abdominal hysterectomies with benign diseases and two had undergone previous transvaginal surgery. Patients were operated 8-15 (mean 12) weeks after previous surgery. A suprapubic cystotomy was performed and the fistula was not excised. The bladder wall is widely dissected from underlying vagina. Dura-mater was placed over the vaginal suture line to close the fistulous tract, cytostomy was inserted and the bladder was closed. An 18 F Foley catheter was left in the bladder for 5 days. A successful repair is defined as no leakage by cystogram at 14 days postoperatively and completely dry by patient report. RESULTS: An overall success rate of 100% was achieved in all patients. All patients remain dry at the follow-up which ranges from 7 to 60 (mean 26) mounts. Patients were discharged at 14 to 26 (mean 16) days postoperatively. No major complications or side effects were observed during the follow-up period. CONCLUSIONS: The use of human dura mater as an interposition graft in the treatment of vesicovaginal fistula is an alternative for VVF repairs because of its excellent tissue compability, stability, good elasticity and absorbability.