Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.

Background: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome.

Serum lipid levels in benign prostatic hyperplasia.

The relationship between serum lipid levels and measures of benign prostatic hyperplasia was investigated. The study was community based. All the participants had undergone a urological investigation which included International Prostate Symptom Score (I-PSS) and Quality of Life Score (QoL), serum lipid concentrations and determination of prostate volume with transrectal ultrasonography.

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

Background: Mutations of the filamin A locus (FLNA) on Xq28 have been established in girls with periventricular nodular heterotopia and in patients with otopalatodigital and overlapping phenotypes, the pathogenesis of these phenotypes being thought to be quite distinct. To date only six male cases of periventricular nodular heterotopia (PVNH) have been reported and these almost invariably associated with severe neurological signs.

Methods And Results: We report a new phenotype of male PVNH, with relatively normal development, no epilepsy or other neurological abnormality, severe constipation, and facial dysmorphism and without a discernible skeletal phenotype.

Memantine: a therapeutic approach in treating Alzheimer's and vascular dementia.

Memantine has been clinically used in the treatment of organic disorders in Germany for over ten years and has now been approved in Europe and also in the US for moderate to severe Alzheimer's disease. The rationale for this indication is strongly related to the physiological and pathological role of glutamate in neurotransmission. Glutamate is an agonist of NMDA, kainate and AMPA (ionotropic) receptors, where its influence on NMDA receptors plays an important role with regard to neuronal plasticity effecting memory and learning.

Incidence and prognosis of CMV disease in HIV-infected patients before and after introduction of combination antiretroviral therapy.

Background: Highly active antiretroviral therapy (HAART) has improved the prognosis of HIV-infected patients. We studied the changes in the incidence and prognosis of cytomegalovirus (CMV) disease preceding and during the first few years of HAART in a clinic cohort.

Patients And Methods: All patients with CMV disease diagnosed between 1993 and 1999 from a clinic cohort in Cologne, Germany, were included.

Population standards of prostate specific antigen values in men over 40: community based study in Turkey.

Objective: To determine the prostate specific antigen (PSA) population standards of a cluster of Turkish men with no clinical evidence of prostate cancer.

Patients And Methods: We evaluated PSA values of the men who were living in a well-defined, rural district of Western Anatolia. Two hundred fifty-seven men agreed to participate in this population-based study.

Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.

We report the clinical, structural, functional and genetic characterization of a 37-year-old Caucasian female, presenting as a sporadic case of complicated spastic paraplegia with thin corpus callosum (CC), cognitive impairment, amyotrophy of the hand muscles and a sensorimotor neuropathy and review the literature for spastic paraplegia with thin CC. Magnetic resonance imaging (MRI) examination revealed a thin CC with fronto-parietal cortical atrophy. 18Fluordesoxyglucose positron emission tomography (FDG-PET) showed reduced cortical and thalamic metabolism.

Displacement of avulsed tooth into soft tissue of chin resulting from epileptic attack trauma.

Maxillofacial trauma is the main cause of emergency admittance to dental clinics. Mental retardation and epileptic status are important factors in an increase in the risk of dental injuries. Tooth avulsion, which is the total displacement of a tooth out of its socket, is an infrequently observed entity.

Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.

Muscle-eye-brain disease (MEB) is an autosomal recessive congenital muscular dystrophy with ocular abnormalities and type II lissencephaly. MEB is caused by mutations in the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene on chromosome 1q33. POMGnT1 is a glycosylation enzyme that participates in the synthesis of O-mannosyl glycan.

Changes in growth pattern, body composition and biochemical markers of growth after adenotonsillectomy in prepubertal children.

Objective: Adenotonsillar hypertrophy (ATH) is associated with growth interruption during childhood. The aim of this study was to determine the changes in growth, body composition and biochemical markers associated with growth following adenotonsillectomy (A&T) in prepubertal children.

Study Design: Twenty-eight children aged 3-10 years (mean age 73.

Biomimetic synthesis of acid-sensitive (-)- and (+)-caparrapi oxides, (-)- and (+)-8-epicaparrapi oxides, and (+)-dysifragin induced by artificial cyclases.

Asymmetric total syntheses of acid-sensitive (-)- and (+)-caparrapi oxides (1) and (+)-8-epicaparrapi oxide (2) from farnesol (10) are achieved using Sharpless-Katsuki epoxidation and Lewis acid-assisted chiral Brønsted acid (chiral LBA)-induced polyene cyclization as key steps. The relative configuration of (+)-dysifragin (4) is determined by a single-crystal X-ray diffraction and its total synthesis is accomplished by the diastereoselective epoxidation of (+)-1. Furthermore, (-)-1 can be directly synthesized from (S)-nerolidol (3) and (R)-LBA with 88% ds by reagent control, which overcame substrate control, while (-)-2 is obtained from (R)-3 and (R)-LBA with >99% ds by the double asymmetric induction.

Biomimetic synthesis of acid-sensitive (-)-caparrapi oxide and (+)-8-epicaparrapi oxide induced by artificial cyclases.

[reaction: see text] Asymmetric total syntheses of acid-sensitive (-)-caparrapi oxide (1) and (+)-8-epicaparrapi oxide (2) from farnesol (9) were achieved using Sharpless-Katsuki epoxidation and Lewis acid-assisted chiral Bronsted acid (chiral LBA)-induced polyene cyclization as key steps. Furthermore, (-)-1 could be directly synthesized from (S)-nerolidol (3) and (R)-LBA with 88% ds by reagent control which overcame substrate control, while (-)-2 was obtained from (R)-3 and (R)-LBA with >99% ds by the double-asymmetric induction.

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglycan, leading to Walker-Warburg syndrome, a lethal disorder in early life with severe congenital muscular dystrophy, and brain and eye malformations. Recently, we described a novel form of recessive limb girdle muscular dystrophy with mild mental retardation, associated with an abnormal alpha-dystroglycan pattern in the muscle, suggesting a glycosylation defect. Here, we present evidence that this distinct phenotype results from a common mutation (A200P) in the POMT1 gene.

Effects of dietary chromium supplementation on performance, carcass traits, serum metabolites, and tissue chromium levels of Japanese quails.

This study was conducted to investigate the effects of various levels of dietary chromium supplementation on performance, carcass traits, blood chemistry, and tissue distribution of chromium (Cr3+) in quails. Two hundred forty 1-d-old Japanese quails were divided into five groups with four replicates and were fed a basal diet or the basal diet supplemented with 20, 40, 80, or 100 mg/kg Cr (CrCl3.6H2O) until 38 d of age.

[Congenital muscular dystrophies: muscle-eye-brain disease].

Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. We report on two brothers with MEB.

Ameloblastic fibrodentinoma. A case report.

A case report of an ameloblastic fibrodentinoma (AFD) in a 21-year-old female patient is presented. This rare, benign tumor was surgically treated. The histological findings and follow-up are presented.

The stereochemistry of the Grignard reaction of steroidal 4,5-epoxy-3-ketones.

The stereochemistry of the addition of methylmagnesium bromide to a steroidal 4,5-epoxy-3-ketone has been shown to be determined by the stereochemistry of the epoxide. The epoxidation to the corresponding 3-alkyl-3-hydroxy-4-enes by per-acid was determined by the stereochemistry of the allylic alcohol.

Serum nitric oxide metabolite levels and the effect of antipsychotic therapy in schizophrenia.

Background: Recently it was proposed that nitric oxide metabolites (NO) may have a role in the pathophysiology of schizophrenia and major depressive disorders. The present study was performed to assess changes in serum nitric oxide metabolite levels in schizophrenic patients compared with healthy controls. Our secondary aim was to further evaluate the impact of psychopharmacologic treatment on circulating NO levels not assessed previously.

Recreational and master athletic activity does not affect free and total prostate-specific antigen levels but lowers the free-to-total prostate-specific antigen ratio.

Prostate-specific antigen (PSA) and the ratio of free-to-total PSA are widely used tumour markers, but the effect of exercise on these parameters is unclear. We aimed to determine whether long-term physical training was associated with changes in serum PSA by comparing PSA concentrations in middle-aged master athletes (n = 12), recreational athletes (n = 12) and sedentary controls (n = 12). Serum total PSA and free PSA concentrations were assessed using an electrochemiluminescence immunoassay; there were no significant differences among the groups.

Comparison of the effects of alendronate and risedronate on bone mineral density and bone turnover markers in postmenopausal osteoporosis.

The aim of the study was to compare the effects of once-weekly alendronate sodium and daily risedronate sodium treatment on bone mineral density (BMD) and bone turnover markers in postmenopausal osteoporotic subjects. For this purpose, 50 patients were included in this study and randomly classified into two groups. Group I (n=25) received risedronate (5 mg/day) and group II (n=25) received alendronate Na (70 mg/week).

The long-term effect of mesh bioprosthesis in inguinal hernia repair on testicular nitric oxide metabolism and apoptosis in rat testis.

Polypropylene mesh is the most widely used material in inguinal hernia repair. Although polypropylene mesh is known as an inert material, it is experimentally proven that mesh generates a chronic inflammatory tissue reaction. The aim of the present study was to investigate the long-term effects of polypropylene mesh material used in inguinal hernia operations on testicular function, testicular nitric oxide (NO) metabolism and germ cell-specific apoptosis in rats.

Effect of alfalfa meal in diets of laying quails on performance, egg quality and some serum parameters.

This study was conducted to investigate the effects of increasing levels of alfalfa meal in the diet of laying quails on egg production, feed consumption, feed efficiency, egg quality, egg yolk cholesterol and selected serum parameters. In this study, 192, 10-week old quails (Coturnix coturnix japonica) were evenly distributed to four groups with four replicates of 12 quails each. The control group was fed a basal diet containing 0% alfalfa meal and the remaining groups received 3, 6 or 9% alfalfa meal for 12 weeks.