Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6%. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3120+1G>A, and 711+1G>T) in a sample of 111 newborn patients with cystic fibrosis diagnosed by the Cystic Fibrosis Neonatal Screening Program of Minas Gerais State. The mutations were tested by allele-specific oligonucleotide PCR with specially designed primers. An allele frequency of 48.2% was observed for the F508del mutation, and allele frequencies of 5.41, 4.50, 4.05, and 3.60% were found for the R1162X, G542X, 3120+1G>A, and G85E mutations, respectively. The genotypes obtained were in Hardy-Weinberg equilibrium. These data demonstrate that the 8-mutation panel studied here has extensive coverage (68%) for the cystic fibrosis mutations in Minas Gerais. These data improve our knowledge of cystic fibrosis in Brazil, particularly in this region. In addition, this investigation contributed to the establishment of a sensitive and population-specific mutation panel, which can be helpful for molecular diagnosis of cystic fibrosis.

Frequency of primary glomerular disease in northeastern China

Most frequently reported Chinese renal biopsy data have originated from southeastern China. The present study analyzed the renal biopsy data from northeastern China. The records of 1550 consecutive native patients who were diagnosed with primary glomerular diseases (PGD) after renal biopsy at our hospital during 2005-2009 were used. These patients were divided into four age groups for stratified analysis: <15, 15-44, 45-59, and ≥60 years old. Among PGD, minimal change disease (MCD) was the most common histologically diagnosed disease (30.7%), followed by IgA nephropathy (IgAN), mesangial proliferative glomerulonephritis (MsPGN), membranous nephropathy (MN), membranoproliferative glomerulonephritis (MPGN), focal segmental glomerulosclerosis (FSGS), and endocapillary proliferative glomerulonephritis (EnPGN). MCD was the disease most frequently observed (43.7%) in the <15-year-old group. MsPGN was the most common disease in the elderly group (38.1%). MsPGN was more prevalent in females (27.8%), whereas MCD was more prevalent in males (35.3%). Primary glomerular diseases constituted the most commonly encountered group of diseases with a high prevalence of MCD, which predominantly affected males and young adults. The prevalence of MCD was high in northeastern China. Further study is necessary to expand the epidemiologic data available for renal disease in China.

Inflammation induced by increased frequency of intermittent hypoxia is attenuated by tempol administration

The levels of serum inflammatory cytokines and the activation of nuclear factor kappa B (NF-κB) and hypoxia inducible factor-1α (HIF-1α) in heart tissues in response to different frequencies of intermittent hypoxia (IH) and the antioxidant tempol were evaluated. Wistar rats (64 males, 200-220 g) were randomly divided into 6 experimental groups and 2 control groups. Four groups were exposed to IH 10, 20, 30, or 40 times/h. The other 2 experimental groups were challenged with IH (30 times/h) plus tempol, either beginning on day 0 (IH30T0) or on day 29 (IH30T29). After 6 weeks of challenge, serum levels of tumor necrosis factor (TNF)-α, intracellular adhesion molecule (ICAM)-1, and interleukin-10 were measured, and western blot analysis was used to detect NF-κB p65 and HIF-1α in myocardial tissues. Serum levels of TNF-α and ICAM-1 and myocardial expression of NF-κB p65 and HIF-1α were all significantly higher in IH rats than in controls (P<0.001). Increased IH frequency resulted in more significant changes. Administration of tempol in IH rats significantly reduced levels of TNF-α, ICAM-1, NF-κB and HIF-1α compared with the non-tempol-treated group (F=16.936, P<0.001). IH induced an inflammatory response in a frequency-dependent manner. Additionally, HIF-1α and NF-κB were increased following IH administration. Importantly, tempol treatment attenuated this effect.

Study of enteroparasites infection frequency and chemotherapeutic agents used in pediatric patients in a community living in Porto Alegre, RS, Brazil

Parasitic infections caused by intestinal protozoan and helminths affect more than two billion people worldwide and chemotherapy is the most commonly used therapeutic procedure. Considering the problems created by parasitic infections and the incorrect use of drugs, the aim of this work was to detect the frequency of enteroparasites infection and to estimate the use of chemotherapeutic agents in children living in the periphery of the city of Porto Alegre, RS, Brazil. Ninety-six preschool age children, who had parasitological exams and who used antiparasitic drugs, were analyzed. The efficacy of treatment was evaluated by stool examination repeated six months after treatment. The same diagnostic test was used to evaluate parasitological cure, which was defined as absence of eggs and cysts in the stool. From these children, 79 (82.3%) were contaminated by some species of parasite, the most prevalent were Ascaris lumbricoides, Trichuris trichiura and Giardia lamblia. The most commonly used drugs were mebendazole (86% of prescriptions) and metronidazole (30.3%). The cure rate in the 79 children, examined 6 months after treatment, was 65.3% for A. lumbricoides and 66.1% for T. trichiura. This study suggests that a continuous education program regarding the prevention and treatment of parasitic infections is an essential tool for their eradication.

The frequency rate of Toxocara species contamination in soil samples from public yards in a urban area "Payathai", Bangkok, Thailand

Toxocara species are most common roundworms of Canidae and Felidae. Human toxocariasis develops by ingesting of embryonated eggs in contaminated soil. There is no previous report of Toxocara contamination in the soil samples from the public areas in Bangkok. For this reason our study have been carried out to examine the frequency of Toxocara eggs in public yards in Bangkok, Thailand. A total of 175 sand and clay samples were collected and examined for parasite eggs. According to this study, Toxocara eggs were detected from 10 (5.71%) of 175 soil samples. The high rate of contamination in this study implies the importance of the control of this possible zoonotic disease: control of abandon of dogs and cats, is still necessary.

Severity of atopic dermatitis and Ascaris lumbricoides infection: an evaluation of CCR4+ and CXCR3+ helper T cell frequency

INTRODUCTION: Ascaris lumbricoides-infected patients present lower prevalence of severe atopic dermatitis. METHODS: Peripheral blood of infected children with atopic dermatitis was assessed by flow cytometry of the frequency of Th1 and Th2 cells through the expression of CXCR3 and CCR4 chemokine receptors, respectively. RESULTS: Helminth-free patients with atopic dermatitis presented a high frequency of CCR4+Th2 cells. Parasitized patients with atopic dermatitis showed a lower frequency of CXCR3+Th1 cells compared to infected individuals only. CONCLUSIONS: Ascariasis modifies the blood traffic of Th2 cells in atopic dermatitis patients, while the allergic disease down-regulates the traffic of Th1 cells in parasitized patients.

A study of the endocervical columnar cells I - morphology and frequency

After the observation of many thousands of histological sections of the endocervical mucosa it became evident that its columnar cells present a great variety of aspects not only those of the surface of the canal but also those of the glands. A classification of these cells was made taking into account the staining affinity, the intensity staining of the cytoplasm, the presence or absence of cilia, the shape and location of the nucleus. The various combinations of these different data made possible the characterization of 26 types of cells which we labelled by the alphabetical letters. Two hundred and fifty cervices obtained by cervical amputation and by hysterectomy were studied. The uteri presented lesions in the course of routine laboratory examination. In each of the 250 histological sections there were specifically counted 2,000 columnar cells which cover the cervical canal and 2,000columnar cells which form the glands. A graphic representation of the frequency of both the superficial and glandular columnar cells was presented; this was given the name EPITHELIOGRAM. The variation of the cellular "composition" of each epithelium is discussed and the frequency of the various cellular types after the count of one million of cells is presented.

Trichurid nematodes in ring-necked pheasants from backyard flocks of the State of Rio de Janeiro, Brazil: frequency and pathology

The present investigation is related to the frequency of infection and to the gross and microscopic lesions associated to the presence of trichurid worms in 50 ring-necked pheasants (Phasianus colchicus) from backyard flocks in the state of Rio de Janeiro, Brazil. In the investigated birds, the overall infection rate was of 74%, with the presence of Eucoleus perforans with 72% of prevalence and 21.2 of mean intensity, in the esophageal and crop mucosa and rarely in the junction of the proventriculus and esophagus, E. annulatus with 2% and 3 in the crop mucosa, Capillaria phasianina, with 12% and 4.3 in the cecum and small intestine and Baruscapillaria obsignata, for the first time referred in this host, with 2% and 1 in the small intestine. Clinical signs were absent. The gross lesions observed in the crop and esophagus of 14 (38.9%) pheasants parasitized with E. perforans were thickening, small nodules, congestion, and petechial haemorrhages in the mucosa. These birds presented a mean infection of 37.5 and a range of infection of 10-82. The microscopic lesions revealed chronic esophagitis with diffuse inflammatory process in the lamina propria characterized mostly by a mononuclear cell infiltrate and also with the presence of granulocytes. In the case of the parasitism of pheasants with C. phasianina, the gross lesions were absent; microscopic lesions were characterized by chronic typhlitis with mononuclear infiltrate. Gross and microscopic lesions were absent in the pheasants parasitized with E. annulatus and B. obsignata.

Frequency and types of human papillomavirus among pregnant and non-pregnant women with human immunodeficiency virus infection in Recife determined by genotyping

Women with human immunodeficiency virus (HIV) infection present a higher risk of infection by the human papillomavirus (HPV) and cervical cancer. To determine HPV genotypes and frequencies among HIV-positive women, an analytical cross-sectional study was carried out on 147 women (51 were pregnant and HIV-positive, 45 pregnant and HIV-negative and 51 HIV-positive and not pregnant), who were attended at a maternity hospital in Recife between April 2006-May 2007. They answered a questionnaire and underwent a gynaecological examination, with samples collected for HPV investigation by PCR, hybrid capture II, oncotic colpocytology (Papanicolau) and colposcopy. The frequency of HPV DNA was 85.3% (122/143), with a high proportion of HPV types that have been identified as high risk for cervical cancer. Among HIV-positive pregnant women, there was an HPV prevalence of 96% (48/50), of whom 60.4% (29/48) were high-risk. HPV 16, 58, 18, 66 and 31 were the most frequent types. Colpocytological abnormalities were observed in 35.3% (18/51) of HIV-positive non-pregnant women, 21.6% (11/51) of HIV-positive pregnant women and 13.3% (6/45) of HIV-negative pregnant women with a predominance of low-level lesions. A high prevalence of HPV infection was identified, especially with the high-risk types 16, 58, 18 and 66. This study identified high-risk HPV types in all three groups examined (HIV-positive pregnant women, HIV-negative pregnant women and HIV-positive not pregnant), characterising its distribution in this setting.

Comparative analysis of the frequency and the severity of diagnosed lesions between pedestrians struck by motor vehicles and other blunt trauma mechanisms victims

ABSTRACTObjective:to compare the frequency and the severity of diagnosed injuries between pedestrians struck by motor vehicles and victims of other blunt trauma mechanisms.Methods:retrospective analysis of data from the Trauma Registry, including adult blunt trauma patients admitted from 2008 to 2010. We reviewed the mechanism of trauma, vital signs on admission and the injuries identified. Severity stratification was carried using RTS, AIS-90, ISS e TRISS. Patients were assigned into group A (pedestrians struck by motor vehicle) or B (victims of other mechanisms of blunt trauma). Variables were compared between groups. We considered p<0.05 as significant.Results:a total of 5785 cases were included, and 1217 (21,0%) of which were in group A. Pedestrians struck by vehicles presented (p<0.05) higher mean age, mean heart rate upon admission, mean ISS and mean AIS in head, thorax, abdomen and extremities, as well as lower mean Glasgow coma scale, arterial blood pressure upon admission, RTS and TRISS. They also had a higher frequency of epidural hematomas, subdural hematomas, subarachnoid hemorrhage, brain swelling, cerebral contusions, costal fractures, pneumothorax, flail chest, pulmonary contusions, as well as pelvic, superior limbs and inferior limbs fractures.Conclusion:pedestrian struck by vehicles sustained intracranial, thoracic, abdominal and extremity injuries more frequently than victims of other blunt trauma mechanism as a group. They also presented worse physiologic and anatomic severity of the trauma.

Relative frequency, clinical, neuroimaging, and postsurgical features of pediatric temporal lobe epilepsy

We describe the relative frequency, clinical features, neuroimaging and pathological results, and outcome after pharmacological or surgical intervention for a series of pediatric patients with temporal lobe epilepsy (TLE) from an epilepsy center in Brazil. The medical records of children younger than 12 years with features strongly suggestive of TLE were reviewed from January 1999 to June 1999. Selected children were evaluated regarding clinical, EEG, and magnetic resonance imaging (MRI) investigation and divided into three groups according to MRI: group 1 (G1, N = 9), patients with hippocampal atrophy; group 2 (G2, N = 10), patients with normal MRI, and group 3 (G3, N = 12), patients with other specific temporal lesions. A review of 1732 records of children with epilepsy revealed 31 cases with TLE (relative frequency of 1.79%). However, when the investigation was narrowed to cases with intractable seizures that needed video-EEG monitoring (N = 68) or epilepsy surgery (N = 32), the relative frequency of TLE increased to 19.11 (13/68) and 31.25% (10/32), respectively. At the beginning of the study, 25 of 31 patients had a high seizure frequency (80.6%), which declined to 11 of 31 (35.5%) at the conclusion of the study, as a consequence of pharmacological and/or surgical therapy. This improvement in seizure control was significant in G1 (P < 0.05) and G3 (P < 0.01) mainly due to good postsurgical outcome, and was not significant in G2 (P > 0.1, McNemar's test). These results indicate that the relative frequency of TLE in children was low, but increased considerably among cases with pharmacoresistant seizures. Patients with specific lesions were likely to undergo surgery, with good postoperative outcomes.

Effect of vitamin D therapy in addition to amitriptyline on migraine attacks in pediatric patients

The purpose of this study was to investigate the effect of supplementary vitamin D therapy in addition to amitriptyline on the frequency of migraine attacks in pediatric migraine patients. Fifty-three children 8-16 years of age and diagnosed with migraine following the International Headache Society 2005 definition, which includes childhood criteria, were enrolled. Patients were classified into four groups on the basis of their 25-hydroxyvitamin D [25(OH)D] levels. Group 1 had normal 25(OH)D levels and received amitriptyline therapy alone; group 2 had normal 25(OH)D levels and received vitamin D supplementation (400 IU/day) plus amitriptyline; group 3 had mildly deficient 25(OH)D levels and received amitriptyline plus vitamin D (800 IU/day); and group 4 had severely deficient 25(OH)D levels and was given amitriptyline plus vitamin D (5000 IU/day). All groups were monitored for 6 months, and the number of migraine attacks before and during treatment was determined. Calcium, phosphorus alkaline phosphatase, parathormone, and 25(OH)D levels were also determined before and during treatment. Results were compared between the groups. Data obtained from the groups were analyzed using one-way analysis of variance. The number of pretreatment attacks in groups 1 to 4 was 7±0.12, 6.8±0.2, 7.3±0.4, and 7.2±0.3 for 6 months, respectively (all P>0.05). The number of attacks during treatment was 3±0.25, 1.76±0.37 (P<0.05), 2.14±0.29 (P<0.05), and 1.15±0.15 (P<0.05), respectively. No statistically significant differences in calcium, phosphorus, alkaline phosphatase, or parathormone levels were observed (P>0.05). Vitamin D given in addition to anti-migraine treatment reduced the number of migraine attacks.

Determination of CYP2D6 *3, *4, and *10 frequency in women with breast cancer in São Luís, Brazil, and its association with prognostic factors and disease-free survival

The CYP2D6 enzyme is crucial for the metabolism of tamoxifen. The CYP2D6 gene is highly polymorphic, and individuals can be extensive, intermediate, or poor tamoxifen metabolizers. The aim of this study was to determine the frequencies of the CYP2D6 *3, *4, and *10 alleles in women with breast cancer who were treated with tamoxifen and analyze the association of enzyme activity with prognostic factors and disease-free survival. We observed a high frequency of CYP2D6 *10, with an allelic frequency of 0.14 (14.4%). The *3 allele was not present in the studied population, and *4 had an allelic frequency of 0.13 (13.8%). We conclude that patients with reduced CYP2D6 activity did not present worse tumor characteristics or decreased disease-free survival than women with normal enzyme activity, as the difference was not statistically significant. We also observed a high frequency of CYP2D6 *10, which had not been previously described in this specific population. This study is the first in north-northeastern Brazil that aimed to contribute to the knowledge of the Brazilian regional profile for CYP2D6 polymorphisms and their phenotypes. These findings add to the knowledge of the distribution of different polymorphic CYP2D6 alleles and the potential role of CYP2D6 genotyping in clinical practice prior to choosing therapeutic protocols.

Histological alterations in liver and testis of Astyanax aff. bimaculatus caused by acute exposition to zinc

This study investigated the effect of acute exposition to zinc (Zn) on histology of the liver and testes of yellow tail lambari (Astyanax aff. bimaculatus). The exposure consisted of six concentrations of Zn (0, 3, 5, 10, 15, and 20 mg/L) for 96 hours of exposure. Fragments of liver and testis were routinely processed and embedded in plastic resin based on glycol methacrylate. Fragments of bones, muscles, liver and testis were dehydrated and digested to quantify the absorption levels of Zn in the tissue. Acute exposure to concentrations above 10mg/L has produced structural changes in the liver and gonads. The changes found in the liver were vascular congestion; decrease of cellular volume; displacement of the hepatocyte nucleus; necrosis; disarrangement of cordon structure; leukocyte infiltrate and vacuolization. The changes found in the gonads were ruptured cyst, delayed development of germ cells, pyknotic nucleus, cell cluster, displacement of cyst wall and vacuolization. The histological changes observed were compatible with the increasing concentration of zinc in environment, compromising liver and reproductive functions, because there was an increase in relative frequency of hepatocytes and reduced sperm production

Erythroderma: analysis of 247 cases

The profile of 247 patients with erythroderma during a 23 year period from January, 1962 through March, 1985, with a follow-up period ranging from 1 to 26 years were analysed. The patients presented with diffuse erythema, scaling and pruritus of more than 2 months' duration, and the age ranged from 16 to 60 years. Psoriasis was the most frequent underlying disease with an estimated frequency of 44.9%, the reaction to the use of drugs appeared in 7.3% of total cases and association with reticulosis showed a frequency of 4.1%. The cause of the erythroderma could not be determined in 29.2% of the cases. Sex differences in terms of underlying diseases were not observed. One or more skin biopsies along with the clinical findings were diagnostic or suggestive of the underlying disease in 63.6% of the cases. Repeated skin biopsies are recommended as the best method for etiologic diagnosis of erythroderma. At P=0.05 significance level, masculine/feminine ratio of 2 : 1 was found. The question arises wether causal agent of erythroderma may not be somehow related to different exposure by sex to environmental antigens.