Types of marriages, population structure and genetic disease.

A high occurrence rate of consanguineous marriages may favour the onset and increased frequency of autosomal recessive diseases in a population. The population of Monte Santo, Bahia, Brazil, has a high frequency of rare genetic diseases such as mucopolysaccharidosis type VI, whose observed frequency in this population is 1:5000, while the incidence of this disease recorded in other regions of the world varies from 1:43,261 in Turkey to 1:1,505,160 in Switzerland. To verify the influence of consanguineous marriage on the increased frequency of observed genetic diseases in this population, the population structure and frequency of different types of marriage during different time periods were evaluated. A total of 9765 marriages were found in an analysis of parish marriage records from the city. Over three periods, 1860-1895, 1950-1961 and 1975-2010, the inbreeding rates were 37.1%, 13.2% and 4.2% respectively. Although there was a high rate of inbreeding, endogamic marriages were the dominant marriage type in all three periods. In the most recent period, there was an increase in the number of exogamous marriages and those among immigrants, but most of these occurred among individuals from cities that neighbour Monte Santo. The low rate of migration and high frequency of endogamic and consanguineous marriages show that growth of this population is predominantly internal and could explain the occurrence, and increase in frequency, of recessive genetic diseases in the city.

Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome

The etiology of respiratory distress syndrome (RDS) is multifactorial and multigenic. Studies have suggested that polymorphisms and mutations in the surfactant protein B (SP-B) gene are associated with the pathogenesis of RDS. The objectives of this study were to determine and compare the frequencies of SP-B gene polymorphisms in preterm babies with and without RDS. We studied 151 neonates: 79 preterm babies without RDS and 72 preterm newborns with RDS. The following four SP-B gene polymorphisms were analyzed: A/C at -18, C/T at 1580, A/G at 9306, and G/C at nucleotide 8714. The polymorphisms were detected by PCR amplification of genomic DNA and genotyping. The genotypes were determined using PCR-based converted restriction fragment length polymorphisms. The control group consisted of 42 (53 percent) girls and 37 (47 percent) boys. Weight ranged from 1170 to 3260 g and mean gestational age (GA) was 33.9 weeks (range: 29 to 35 weeks and 6 days). The RDS group consisted of 31 (43 percent) girls and 41 (57 percent) boys. Weight ranged from 614 to 2410 g and mean GA was 32 weeks (range: 26 to 35 weeks). The logistic regression model showed that GA was the variable that most contributed to the occurrence of RDS. The AG genotype of the A/G polymorphism at position 9306 of the SP-B gene was a protective factor in this population (OR = 0.1681; 95 percentCI = 0.0426-0.6629). We did not detect differences in the frequencies of the other polymorphisms between the two groups of newborns.

Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome.

The etiology of respiratory distress syndrome (RDS) is multifactorial and multigenic. Studies have suggested that polymorphisms and mutations in the surfactant protein B (SP-B) gene are associated with the pathogenesis of RDS. The objectives of this study were to determine and compare the frequencies of SP-B gene polymorphisms in preterm babies with and without RDS. We studied 151 neonates: 79 preterm babies without RDS and 72 preterm newborns with RDS. The following four SP-B gene polymorphisms were analyzed: A/C at -18, C/T at 1580, A/G at 9306, and G/C at nucleotide 8714. The polymorphisms were detected by PCR amplification of genomic DNA and genotyping. The genotypes were determined using PCR-based converted restriction fragment length polymorphisms. The control group consisted of 42 (53%) girls and 37 (47%) boys. Weight ranged from 1170 to 3260 g and mean gestational age (GA) was 33.9 weeks (range: 29 to 35 weeks and 6 days). The RDS group consisted of 31 (43%) girls and 41 (57%) boys. Weight ranged from 614 to 2410 g and mean GA was 32 weeks (range: 26 to 35 weeks). The logistic regression model showed that GA was the variable that most contributed to the occurrence of RDS. The AG genotype of the A/G polymorphism at position 9306 of the SP-B gene was a protective factor in this population (OR = 0.1681; 95%CI = 0.0426-0.6629). We did not detect differences in the frequencies of the other polymorphisms between the two groups of newborns.

Distribution of SDF1-3'A polymorphisms in three different ethnic groups from Brazil.

A mutation described as a G-to-A transition has been reported in SDF-1 gene (SDF1-3'A), being prevalent in all ethnic groups, except in Africans. This mutation is associated with the onset of AIDS progression. Our aim was to identify the frequency of this allele in different groups from Brazil: Tiriyó and Waiampi Amerindian tribes (Asian ancestry); selected blood donors from Joinville (German descendents); and from Salvador (predominance of African and Portuguese mixture). SDF1-3'A was screened by PCR/RFLP with MspI enzyme. Our results showed a high allelic frequency in Tiriyó tribe (0.24) and Joinville population (0.21), and a frequency of 0.17 and 0.05 in the Salvador population and in the Waiampi tribe, respectively. There was no statistical difference among the allelic frequencies in the studied ethnic groups, except in the Waiampi. Due to the great genetic diversity among Brazilian population and the lack of studies on SDF1-3'A allele, our study of this allelic frequency in these different Brazilian ethnic groups could be important to identification of biomarker for therapeutic support in progression to AIDS and a molecular marker for analysis of evolutionary relationships among human populations.

Desempenho produtivo de ovinos em confinamento alimentados com diferentes dietas / Performance of confined sheep fed different diets

Avaliaram-se o desempenho produtivo e a viabilidade econômica da utilização de diferentes dietas na terminação de ovinos. Foram utilizados 20 ovinos machos inteiros com sete meses de idade e peso vivo inicial de 25kg. O experimento teve duração de 60 dias, sendo que os animais tiveram sete dias de adaptação às dietas e 53 para o período de pesagens, coletas das sobras e dietas oferecidas. Utilizou-se o delineamento inteiramente ao acaso com quatro tratamentos e cinco repetições: milho + soja + feno de Tifton 85 (DR); milho + soja + caju + feno de Tifton 850 (DC); milho + soja + maracujá + feno de Tifton 85 (DM); milho desintegrado com palha e sabugo (MDPS) + feno de leucena + feno de Tifton 85 (DL). Observou-se efeito do tratamento (P<0,05) sobre consumo de matéria seca (CMS), consumo de proteína bruta (CPB) e consumo de fibra em detergente neutro (CFDN). Os ganhos médios diários de peso, em gramas, foram 171,60, 218,80, 217,20, 187,00 para os tratamentos DR, DC, DM e DL, respectivamente. Registrou-se menor CMS, CPB e CFDN para o tratamento DL. Não foi observada influência das dietas sobre o rendimento de carcaça quente e fria. A análise econômica revelou valores de benefício líquido de R$-20,40; R$44,77; R$31,41; 39,10 e taxa de retorno de -12,4 por cento; 31,8 por cento; 20,6 por cento; 32,8 por cento para os tratamentos DR, DC, DM e DL, respectivamente.

The performance and economical viability of using different diets in sheep termination were evaluated. Twenty rams aging seven-month old and averaging initial live body weight of 25kg were used. The experimental period lasted 60 days, with seven adaptation and 53 for body weight evaluation, and feed and leftover sampling. A completely randomized design with four treatments and five repetitions was used. The treatments included: corn + soybean + Tifton 85 hay (DR), corn + soybean + cashew + Tifton 85 hay (DC), corn + soybean + passion fruit + Tifton 85 hay (DM), and corn and cob meal (MDPS) + Tifton 85 hay + leucaena hay (DL). Treatment affected (P<0.05) intakes of dry matter (CMS), crude protein (CPB), and neutral detergent fiber (CFDN). Average body weight gains (g) were 171.60, 218.80, 217.20, and 187.00 for the treatments DR, DC, DM, and DL, respectively. Lower CMS, CPB, and CFDN were observed for DL. There was no effect of diets on the hot and cold carcass yields. Economical analysis indicated liquid profits of R$ -20.40, R$ 44.77, R$ 31.41, and 39.10 and return ratios of 12.4 percent, 31.8 percent, 20.6 percent, and 32.8 percent for DR, DC, DM, and DL, respectively.

Simultaneous occurrence of advanced neuroblastoma and acute myeloid leukemia.

The authors report the case of a 4-year-old boy with a diagnosis of stage IV neuroblastoma (NB), who had been treated with 6 cycles of cyclophosphamide, doxorubicin, cisplatin, and etoposide for 12 months. The patient reached partial remission and presented a diagnosis of acute myelomonocytic leukemia (M4 AML), confirmed by immunophenotyping. After 2 months of therapy for leukemia, the child died with both malignancies in activity. A necropsy histologically confirmed the simultaneity of the two diseases. The authors review the possibilities of this association. The review leads to the conclusion that AML can occur as a secondary malignancy after the onset of the neuroblastoma, or be suggested by a misdiagnosis. The simultaneous occurrence of both as described here is not, however, found in the literature, to the best of the authors' knowledge.

Radiation therapy and high-dose tamoxifen in the treatment of patients with diffuse brainstem gliomas: results of a Brazilian cooperative study. Brainstem Glioma Cooperative Group.

PURPOSE: The efficacy of radiation therapy (RT) combined with tamoxifen (TX) was tested in patients diagnosed with diffuse brainstem gliomas in a multicenter trial. PATIENTS AND METHODS: TX was administered orally (maintenance dose: 200 mg/m(2) per day) along with conventional local RT and then continued for 52 additional weeks. Survival, tumoral radiologic response, and toxicity were evaluated. Compliance was assessed using pharmacokinetic measurements. RESULTS: Of 29 patients, 27 completed RT (median dose, 54 Gy). Of 22 assessable patients, 11 (50%) had an objective radiologic response. The mean TX steady-state serum level was 2.44 micromol/L +/- 1.02 micromol/L. Only three patients completed the entire course of treatment without tumoral progression or significant toxicity. Common side effects included nausea and vomiting. Hepatotoxicity (five patients), neurotoxicity (two patients), venous thrombosis (one patient), bilateral ovarian cysts (two patients), and transient neutropenia (one patient) were also observed. Median survival was 10.3 months. Only four patients remain alive without tumoral progression. The 1-year survival rate (mean +/- SD) was 37.0% +/- 9.5%. CONCLUSION: This treatment combination produced no significant change in the overall poor prognosis of these patients. Most tumors responded initially to treatment but recurred as the study progressed. A minority of patients seemed to benefit from the extended use of TX. Generally, treatment was well tolerated, with good patient compliance, but we recommend continuous close monitoring for side effects. Based on our poor results, we recommend that alternative treatments be tested in patients with this type of tumor.

Structure and genetic relationship among Brazilian naturalized and imported goat breeds.

Fourteen goat populations were studied regarding their genetic relationship and structure. Parameters of genetic diversity (HT, HS and GST) and F statistic (FIS, FIT and FST) were estimated. Undefined breed populations presented high homogeneity, as did imported breed populations. Naturalized breed populations showed high differentiation. The genetic distances separating these 14 goat populations were calculated from gene frequency data for eight blood genetic markers (esterase D, phosphoglucomutase 1, carbonic anhydrase II, peptidase B, amylase, haemoglobin, transferrin, and protein X). Working with the genetic distance matrix of Nei corrected for small samples (DA), we constructed a dendrogram using the unweighted pair group method with arithmetic mean. DA values ranged from 0.0027 to 0.1518. The dendrogram divided the populations into two groups, one consisting of three populations of naturalized breeds, and another including the other populations (imported breeds, undefined breeds and some other naturalized breeds).

Disseminated Langerhans' cell histiocytosis and massive protein-losing enteropathy

Symptomatic involvement of the gastrointestinal (GI) tract as a prominent symptom in Langerhans' cell histiocytosis (LCH) is uncommon, occurring in less than 1 to 5 percent of all cases, even when the disease is in its disseminated form. Up to now, there have been reports of 18 cases of LCH with GI manifestations, including our 2 cases, with diarrhea (77.7 percent), protein-losing enteropathy (33.3 percent) and bloody stool being the most frequent findings. The authors present two patients with severe diarrhea and refractory hypoalbuminemia, and with the protein-losing enteropathy documented by Cr51-labeled albumin studies. A review of the literature indicated that the presence of GI symptoms is often associated with systemic disease as well as with poor prognosis, mainly under 2 years of age. Radioisotopes are useful for documenting protein loss in several diseases with high specificity and sensitivity, and their utilization in the cases reviewed here permitted diagnoses in 6 children, as well as improved therapeutic management

Disseminated Langerhans' cell histiocytosis and massive protein-losing enteropathy.

Symptomatic involvement of the gastrointestinal (GI) tract as a prominent symptom in Langerhans' cell histiocytosis (LCH) is uncommon, occurring in less than 1 to 5% of all cases, even when the disease is in its disseminated form. Up to now, there have been reports of 18 cases of LCH with GI manifestations, including our 2 cases, with diarrhea (77.7%), protein-losing enteropathy (33.3%) and bloody stool being the most frequent findings. The authors present two patients with severe diarrhea and refractory hypoalbuminemia, and with the protein-losing enteropathy documented by Cr51-labeled albumin studies. A review of the literature indicated that the presence of GI symptoms is often associated with systemic disease as well as with poor prognosis, mainly under 2 years of age. Radioisotopes are useful for documenting protein loss in several diseases with high specificity and sensitivity, and their utilization in the cases reviewed here permitted diagnoses in 6 children, as well as improved therapeutic management.

Ascariasis in the subdistrict of Cavacos, municipality of alterosa (MG), Brazil: effect of mass treatment with albendazole on the intensity of infection.

The clinical and epidemiologic aspects of infection with Ascaris lumbricoides were studied in a random stratified sample of the population of the subdistrict of Cavacos, municipality of Alterosa (Minas Gerais, Brazil). The effect of mass treatment with a single dose of albendazole on the prevalence and intensity of infection was also studied six months later in the same population. During the first phase of the study, a questionnaire was applied to 248 individuals to obtain information about the socioeconomic, sanitary and clinical conditions of the population surveyed. A total of 230 fecal samples were also examined by the Kato-Katz technique in order to determine the intensity of A. lumbricoides infection. Two hundred and two individuals were simultaneously submitted to blood counts and 70 children aged 12 years or less were evaluated for nutritional status. The presence of A. lumbricoides and other helminth eggs was also determined in 22 soil samples collected in the urban zone of Cavacos. Infection with enteroparasitic helminths was detected in 29.1% of the sample, with a predominance of A. lumbricoides (23.9%). Parasitism and/or intensity of A. lumbricoides infection were significantly correlated with age range (15 years or less), social class, sanitary and living conditions (water, sewage and domiciliary area per person), and presence of abdominal pain. However, these parameters were not correlated with nutritional status or hematocrit levels. During the second phase of the study, a slight but not statistically significant decrease in the prevalence of A. lumbricoides infection was detected after treatment with albendazole. However, an important and significant reduction in the amount of A. lumbricoides eggs eliminated through the feces was detected, indicating that the intensity of A. lumbricoides infection was lower in all the age ranges of the Cavacos population, especially among younger individuals, even six months after administration of the anthelminthic agent.