Vitamin D and muscle strength, functional ability and balance in peritoneal dialysis patients with vitamin D deficiency.

25(OH)D deficiency has been associated with significantly worse physical performance in individuals with normal renal function. We examined the physical function, muscle strength and balance in age- and gender-matched 25 Stage 3 - 4 CKD patients and 47 Stage 5 CKD patients on peritoneal dialysis (PD) with vitamin D deficiency by objective methods and evaluated the effect of vitamin D replacement on physical performance tests: the "timed up and go" (TUG) test, gait velocity test, timed chair stand test, stair climb test, dynamic balance tests (TUG test, dynamic postural stability test), static balance test (functional reach test) and muscle strength in these two groups. At baseline 25(OH)D in the Stage 3 - 4 CKD patients and patients on PD were 6.9 ± 3.5 ng/ ml (17.2 ± 8.7 nmol/l) and 5.7 ± 3.3 ng/ml (14.2 ± 8.2 nmol/l), respectively (p > 0.05). Mean (± SD) 25(OH)D in Stage 3 - 4 CKD patients and those on PD were 52.0 ± 40.9 ng/ml (129.7 ± 102.2 nmol/l) and 41.9 ± 21, ng/ml (104,5 ± 52,6 nmol/l) respectively after vitamin D replacement (p > 0.05). When both Stage 3 - 4 CKD and dialysis patients became vitamin D-sufficient after vitamin D replacement, they took a significantly shorter time to complete the TUG test, gait velocity test, the timed chair stand test and stair climb test. Results of physical performance tests, static and dynamic balance tests and isometric strength tests improved in both groups after the treatment (p < 0.05). In conclusion, our results show that vitamin D supplementation improves muscle strength, functional ability and balance in both CKD and dialysis patients.

The clinical effects of isochromosome Xq in Klinefelter syndrome: report of a case and review of literature.

We describe a male with a variant Klinefelter syndrome (KS), and trisomy Xq resulting from an isochromosome Xq [47,Xi(Xq)Y]. He had many characteristics of classical KS: bilateral atrophic testes and microcalcifications, normal masculinization, azoospermia, hypergonadotropic hypogonadism, elevated FSH and LH, normal intelligence and normal androgenization, but his stature was not increased. Ultrasonographic evaluation also revealed parenchymal alterations secondary to previous epididymo-orchitis. After initial evaluation the patient underwent incisional biopsy of testes which showed tubular hyalinisation, Leydig cell hyperplasia and Certoli cell syndrome. The i(Xq) was found in all cells analyzed. These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development. In conclusion, review of literature on 20 adult patients supports the view that the presence of an isochromosome Xq in KS has a favorable prognosis in terms of normal mental development and normal stature.

Severe hepatitis with prolonged cholestasis and bile duct injury due the long-term use of ornidazole.

Nitroimidazole derivatives are commonly used in the treatment of protozoal and anaerobic infections, and reports of their hepatotoxicity are rare. We report a case of severe hepatitis due to the long-term (8 weeks) use of ornidazole. A 27-year-old woman presented for evaluation of elevated serum transaminase and total bilirubin levels. Liver biopsy revealed portal inflammation, hepatocellular and canalicular cholestasis, porto-portal and portocentral bridging fibrosis, and a tendency to form nodules. No aetiological factors associated with chronic liver disease were identified. The abdominal ultrasonographic findings were compatible with chronic liver disease. We therefore made the diagnosis of severe hepatitis resulting from the long-term use of ornidazole. We conclude that nitroimidazole derivatives may lead to serious liver damage, especially in female patients.

The effects of Gingko biloba, vitamin E and melatonin on bacterial translocation in thioacetamide-induced fulminant hepatic failure in rats.

BACKGROUND AND STUDY AIMS: Bacterial translocation (BT) has been implicated in the development of infectious complications in many serious clinical conditions such as fulminant hepatic failure (FHF). We aimed to investigate the effects of Gingko biloba (GB), vitamin E (Vit E) and melatonin on intestinal oxidative damage and BT in thioacetamide (TAA)-induced FHF in rats. MATERIALS AND METHODS: A total of 42 rats were divided into five groups. Group 1 (n = 8) was the control group. Group 2 (n = 10) was the TAA group, in which rats received 350 mg/kg TAA daily by the intraperitoneal (ip) route for 3 days. Oral 100 mg/kg GB per day was administered to group 3 (n = 8), oral 200 mg/kg Vit E per day to group 4 (n = 8) and ip 3 mg/kg melatonin per day to group 5 (n = 8) 48 h prior to the first TAA injection and was continued for 5 consecutive days. RESULTS: When compared with the control group, serious hepatic and intestinal oxidative damage, increased Escherichia coli counts in ileal aspirates and high BT frequencies were observed in the TAA group (all p < 0.0001). Only GB treatment attenuated hepatic oxidative damage (p < 0.0001). There was no difference in intestinal oxidative damage, E. coli counts in ileal aspirates and BT frequency between TAA and the other antioxidant treatment groups (p > 0.05). CONCLUSION: Our results suggest that intestinal oxidative damage plays a major role in the development of BT by disrupting the barrier function of intestinal mucosa.

A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

We present a patient with acromesomelic chondrodysplasia and genital anomalies caused by a novel homozygous mutation in BMPR1B, the gene coding for bone morphogenetic protein receptor 1B. The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar deviation of the hands, and fusion of carpal/tarsal bones. In addition, she presented with hypoplasia of the uterus and ovarian dysfunction resulting in hypergonadotrophic hypogonadism. Mutation analysis of BMPR1B revealed a homozygous 8 bp deletion (del359-366). This mutation is expected to result in a loss of function and is thus different from the heterozygous missense mutations in BMPR1B recently shown to cause brachydactyly type A2 through a dominant negative effect. The patient's skeletal phenotype shows an overlap with the clinical spectrum of the acromesomelic chondrodysplasias of the Grebe, Hunter-Thompson, and DuPan types caused by homozygous mutations in the gene coding for growth differentiation factor 5 (GDF5) which is a high-affinity ligand to BMPR1B. However, the phenotype described here differs from GDF5 associated chondrodysplasias because of the additional presence of genital anomalies and the distinct limb phenotype.