Molecular analysis of spinocerebellar ataxia trinucleotide repeat behavior in normal individuals of a Brazilian population.

There is a current lack of molecular studies analyzing the behavior of trinucleotide repeat expansions causative of Late Onset Spinocerebellar Ataxias in the Brazilian population. Therefore, this manuscript analyses normal families, as well as one hundred normal individuals of the Espirito Santo State to determine the trinucleotide repeat behavior and the allelic frequencies found in this population. The analysis of normal families demonstrated that, instead of being always stably transmitted over generations, expansions can occur between two generations of unaffected individuals, possibly contributing for the appearance of the ataxic phenotype.

Parathyroid hormone secretion in women in late menopause submitted to EDTA-induced hypocalcemia.

Objective: The physiological role of parathormone (PTH) in the maintenance of bone mass in humans has not been fully defined. The main objective of the present study was to evaluate basal and EDTA-stimulated PTH levels in young women (Group Y=30.9 years, N=7) and in women in late menopause (Group M=64.

Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.

The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). This is the first report in the English literature of the successful application of immunohistochemical techniques to support a diagnosis of LGMD 2A. This approach is straightforward and appears to be reasonably specific.

Evaluation of bone and mineral metabolism in patients recently diagnosed with leprosy.

This study was conducted to evaluate patients recently diagnosed with the tuberculoid and lepromatous forms of leprosy for bone mass, bone remodeling, and hormones related to mineral control. Eleven normal control individuals (CG) and 12 patients with leprosy (LG) matched for physical characteristics were submitted to evaluation of bone mass density (BMD) and to the determination of serum levels of PTH, 25-hydroxyvitamin D [25(OH)D], testosterone, LH, FSH, osteocalcin (OC), and urinary levels of deoxypyridinoline (DPD). The T score of lumbar spine and total radius (mean +/- SD) were significantly lower in leprosy patients (L1-L4: CG = -0.

Screening for significant coronary artery disease in high-risk renal transplant candidates.

Background: Renal transplant candidates are at an increased risk for coronary artery disease (CAD), a strong predictor of cardiovascular events [major adverse coronary events (MACE)]. Coronary angiography is a costly, risky, invasive procedure. We sought to determine clinical predictors of significant CAD (stenosis > or =70%) in high-risk renal transplant candidates.

Simultaneous quantification of sulfamethoxazole and trimethoprim in whole egg samples by column-switching high-performance liquid chromatography using restricted access media column for on-line sample clean-up.

This work reports the application of restricted access media (RAM) column, in a multidimensional configuration, for simultaneous analysis of sulfamethoxazole (SMX) and trimethoprim (TMP) in whole eggs with ultraviolet detection. The proteins were partially precipitated by adding 0.5 mL of acetonitrile into 1.

Seroepidemiological aspects of human Strongyloides stercoralis infections in Chile.

To determine the frequency of Strongyloides stercoralis antibodies by means of the enzyme linked immunosorbent assay (ELISA) in Chile, in 2001-2003, 675 blood samples of patients of two psychiatric hospitals and 172 of healthy individuals (doctors, nurses and paramedicals) of these institutions, and 1,200 serum samples of blood donors of Northern region (Arica and Antofagasta), Central region (Valparaiso and Santiago) and Southern region (La Union) were collected. ELISA showed positivity of 12.1% in psychiatric hospitalized patients, none (0%) in the health personnel and 0.

Underuse of American College of Cardiology/American Heart Association Guidelines in hemodialysis patients.

Patients with end-stage renal disease (ESRD) are at high risk for cardiovascular disease (CVD) and therefore should be treated according to ACC/AHA Guidelines. Scant data are available concerning the actual use of cardioprotective drugs in this population. The use of angiotensin-converting enzyme inhibitors (ACE-I), beta-blockers, aspirin, and statins was assessed in 271 (72% males, 66% Caucasians) high-risk ESRD patients on hemodialysis.

Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A.

Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers in carrier detection procedures.

Impairment of bone mass development in children with chronic cholestatic liver disease.

Objective: To analyse aspects of mineral metabolism, bone mineral density (BMD), bone remodelling activity and serum IGF-1 levels in children with chronic cholestatic disease (CCLD).

Patients And Measurements: A total of 13 children with chronic cholestatic liver disease (CCLD; mean age 7.2 +/- 4.

Molecular detection of Chlamydia trachomatis and HPV infections in cervical samples with normal and abnormal cytopathological findings.

It has been suggested that Chlamydia trachomatis (CT) and human papillomaviruses (HPV) co-infection could contribute to development of intraepithelial lesions. In this study, HPV and CT-DNA were investigated in 250 cervicovaginal samples of patients from Minas Gerais, Brazil. The cytological analysis revealed that 70% of samples (175) were negative, 5.

Synthesis, pharmacological evaluation and electrochemical studies of novel 6-nitro-3,4-methylenedioxyphenyl-N-acylhydrazone derivatives: Discovery of LASSBio-881, a new ligand of cannabinoid receptors.

We describe herein the discovery of LASSBio-881 (3c) as a novel in vivo antinociceptive, anti-inflammatory, and in vitro antiproliferative and antioxidant compound, with a cannabinoid ligand profile. We observed that LASSBio-881 (3c) was able to bind to CB1 receptors (71% at 100microM) and also to inhibit T-cell proliferation (66% at 10microM) probably by binding to CB2 receptors, in a non-proapoptotic manner, different from anandamide (1). It was also demonstrated that LASSBio-881 (3c) had an important antioxidant profile toward free radicals (DPPH and hydroxyl), probably due to its particular redox behavior, which reflects the presence of both nitro and 3,5-di-tert-butyl-4-hydroxyphenyl sub-units, as demonstrated by cyclic voltammetry studies.

Lack of relationship between glycemic control and bone mineral density in type 2 diabetes mellitus.

We assessed the effect of chronic hyperglycemia on bone mineral density (BMD) and bone remodeling in patients with type 2 diabetes mellitus. We investigated 42 patients with type 2 diabetes under stable control for at least 1 year, 22 of them with good metabolic control (GMC: mean age = 48.8 +/- 1.

Diabetes and coronary artery disease impose similar cardiovascular morbidity and mortality on renal transplant candidates.

Background: In renal transplant candidates (RTC), diabetes and coronary artery disease (CAD) are commonly observed. However, whether diabetes imparts a cardiovascular risk equivalent to that of CAD and whether CAD adds to the cardiovascular risk associated with diabetes is unknown.

Methods: To assess the interplay between diabetes and CAD as a determinant of major adverse cardiovascular events (MACE), 288 high-risk RTC (56.

Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.

We report a limb-girdle muscular dystrophy 2I family with three affected sisters and a highly variable clinical course. FKRP gene sequencing showed that all three sisters carried a nonsense paternal mutation (W225X). The two oldest sisters with a severe phenotype carried two maternal mutations V79M and P89A.

The benefits of androgens combined with hormone replacement therapy regarding to patients with postmenopausal sexual symptoms.

Objective: To evaluate the benefits and risks of hormone replacement therapy (HRT) combined with methyltestosterone (MT) in postmenopausal women with sexual dysfunction.

Design: This study was a randomized, double-blind, placebo-controlled and crossover trial. Eighty-five women using HRT were divided into four treatment groups: GI-HRT plus placebo for 4 months; GII-HRT plus MT 2.

[Endoscopic treatment of odontogenic cyst with intra-sinusal extension].

dontogenic cyst is a common lesion that can happen after inflammation of the dental pulp. The therapeutic approach of these cysts is made at dentist's offices, and depending on their extension, they may develop oroantral fistula and chronic sinusitis. The objective of this study is to propose the videoendoscopic treatment of the odontogenic cyst with expression in the maxillary sinus.

Mönckeberg's sclerosis - is the artery the only target of calcification?

Background: Since its first description, Mönckeberg's sclerosis has only been related to arterial media calcification, being listed among the primary diseases of the vessels.

Case Presentation: We report here a clinically and histologically confirmed case of Mönckeberg's sclerosis in which the patient presented with massive areas of soft tissue calcifications in the pharynx and larynx. Polysomnographic parameters showed severe obstructive apnea refractory to nasal continuous positive airway pressure.

Hypercalcemia secondary to leprosy.

Despite the high prevalence of leprosy in undeveloped countries, hypercalcemia secondary to leprosy is rare. One of most important mechanisms responsible for this disorder seems to be high serum concentrations of 1,25-dihydroxyvitamin D produced extrarenally by the granulomatous tissue. Serum levels of parathyroid hormone-related protein (PTHrP) have never been analyzed in this disorder.

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation in the TRIM32 gene in chromosome region 9q32, causing LGMD2H in approximately two-thirds of the 60 Hutterite LGMD patients studied to date. A genomewide scan was undertaken in five families who did not show linkage to the LGMD2H locus on chromosome 9.

Clinical consequences of an individualized dialysate sodium prescription in hemodialysis patients.

Background: Predialysis plasma sodium (Na(+)) concentration is relatively constant in hemodialysis (HD) patients, and a higher dialysate Na(+) concentration can promote an increase in the interdialytic fluid ingestion to achieve an individual's osmolar set point, and individualization of dialysate Na(+) concentration may improve interdialytic weight gain (IDWG), blood pressure (BP), and HD-related symptoms.

Methods: Twenty-seven nondiabetic, non-hypotension prone HD patients were enrolled in a single-blind crossover study. Subjects underwent nine consecutive HD sessions with the dialysate Na(+) concentration set to 138 mEq/L (standard Na(+) HD), followed by nine sessions wherein the dialysate Na(+) was set to match the patients average pre-HD plasma Na(+) measured three times during the standard Na(+) phase multiplied by 0.

[Assessment of urinary trans, trans-muconic acid as a biomarker of exposure to benzene].

Objective: To assess the use of trans, trans-muconic acid as a biomarker of occupational exposure to benzene.

Methods: Trans, trans-muconic acid in urine samples of exposed (exposed group, n=36) and non-exposed (non-exposed group, n=116) workers to benzene. Urinary levels of trans, trans-muconic acid were quantified by high-performance liquid chromatography.

The incidence of prostate cancer in men with prostate specific antigen greater than 4.0 ng/ml: a randomized study of 6 versus 12 core transperineal prostate biopsy.

Purpose: The prostate cancer detection rate in patients with elevated prostate specific antigen (PSA) increases with extended needle biopsy protocols. Transperineal biopsy under transrectal ultrasound guidance is rarely reported, although notable cancer diagnoses are obtained with this technique. We describe the results of 6 and 12 core transperineal biopsy.

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

Autosomal recessive limb-girdle muscular dystrophy linked to 19q13.3 (LGMD2I) was recently related to mutations in the fukutin-related protein gene (FKRP) gene. Pathogenic changes in the same gene were detected in congenital muscular dystrophy patients (MDC1C), a severe disorder.

Calpainopathy: how broad is the spectrum of clinical variability?

Five affected siblings were referred with a probable diagnosis of proximal adult-type spinal muscular atrophy (SMA) based on lower motor neuron signs (muscle weakness and atrophy, hypotony, hypoactive or absent reflexes, and fasciculations), normal or borderline serum creatine kinase levels, and a neurogenic pattern on electromyography, compatible with motor neuron disease, in one patient. No exon 7-8 deletion in the survival motor neuron (SMN) gene was found. Linkage analysis excluded the SMN and all known autosomal recessive limb girdle muscular dystrophy loci, with the exception of LGMD-2A.