Is there a role in the central nervous system development for using corticosteroids to treat meningomyelocele and hydrocephalus?

INTRODUCTION: Myelomeningocele (MMC) is the most frequent neural tube defect and is frequently associated (around 80% of cases) with hydrocephalus (HC). Both diseases can have severe clinical consequences, insomuch as they require surgical treatment whose complications are not negligible, either when performed in utero or after birth. Therefore, clinical therapies that could have an impact on the incidence and progression of MMC and HC would be certainly valuable; however, this is not the current picture, and there are no effective pharmacological treatments for such patients to this day. AIM AND METHODS: Therefore, knowing that an inflammatory process comes associated with these disorders, mostly due to nervous tissue distension, the present article aimed at reviewing the role of corticosteroids in reducing inflammation and thus improving the outcome of patients with HC and MMC, considering the well-established anti-inflammatory effects of CS. RESULTS: The systematic review performed herein has found varying results regarding the role of steroids (even though a positive trend was observed) on the treatment and prevention of hydrocephalus, whereas for MMC. CONCLUSION: There are many reports demonstrating beneficial effects of CS therapy, from a clinical and histopathological point of view.

Analysis of the population structure of a cattle conservation nucleus Curraleiro Pé Duro / [Análise da estrutura populacional de um núcleo de conservação de bovino Curraleiro Pé Duro]

The objective of this research was to study the population structure of the Cattle Conservation Nucleos Curraleiro Pé Duro of the Instituto Nacional do Semiárido (NCP_INSA) based on pedigree data. Genealogical information from 338 animals registered in the period from 1991 to 2019 was used. The number of founding animals (Nf), the effective number of founders (fe), effective number of ancestors (fa), inbreeding coefficient (F), and average relatedness coefficient (AR), in addition to Fis, Fit and Fst were estimated. It was possible to identify ancestors up to the third generation, with an increase in information over the generations. Of the total pedigree information evaluated, 90.53% had the identification of the father and mother. The effective size of the population was smaller than those proposed by FAO, suggesting the need to redefine the herd management and genetic management plan strategies, promoting gene flow and breed expansion.(AU)

O objetivo com essa pesquisa foi estudar a estrutura populacional do Núcleo de Conservação de Bovinos Curraleiro Pé-Duro (NCP) do Instituto Nacional do Semiárido (INSA), por meio de dados de pedigree. Utilizaram-se informações genealógicas de 338 animais registrados no período de 1991 a 2019. Foi estimado o número de animais fundadores (Nf), o número efetivo de fundadores (fe), o número efetivo de ancestrais (fa), o coeficiente de endogamia (F) e o coeficiente de parentesco médio (AR), além do Fis, Fit e Fst. Foi possível identificar ancestrais até a terceira geração, com aumento crescente das informações ao longo das gerações. Do total de informações avaliadas, 90,53% possuíam identificação do pai e da mãe. O tamanho efetivo da população foi inferior ao mínimo proposto pela FAO, o que sugere a necessidade de redefinir as estratégias do plano de gestão e de manejo genético do rebanho, de modo a promover fluxo gênico e expansão da raça.(AU)

A new approach for the determination of 210Pb by liquid scintillation counting.

A new approach to the calibration procedure is presented, as there is no need to discount bismuth from lead spectrum when constructing the efficiency curve. This work presents two calibration methods: one considering mostly lead spectrum contributions and other that considers both lead and bismuth contributions. Both methodologies provide consistent results when evaluated in an intercomparison program. Furthermore, this methodology allows simultaneous analysis of several samples and is suitable for any type of sample after proper digestion in liquid form.

Delay in breast cancer diagnosis: a Brazilian cohort study.

OBJECTIVES: To evaluate the delay in breast cancer (BC) diagnosis and its risk factors. STUDY DESIGN: A cohort study of BC patients referred to treatment at oncological reference hospital, Brazil. Delay in BC diagnosis was defined as a time interval ≥90 days between the first contact with a care provider and a BC diagnosis. METHODS: The association between independent variables and delay was performed by univariate analysis and multiple logistic regression. RESULTS: Five hundred and twenty-six women were included in the study. Delay was observed in 68.8% and was associated with performing histopathological examination at oncological reference hospital (odds ratio [OR]: 3.96, 95% confidence interval [CI]: 1.91-8.20) or at another public health service (OR: 2.31; 95% CI: 1.50-3.56) and attending gynecological consultations annually (OR: 3.24; 95% CI: 1.97-5.33) or every 2-3 years (OR: 2.86; 95% CI: 1.55-5.28). Patients who presented a lump as the first sign or symptom had a lower chance of delay (OR: 0.43; 95% CI: 0.29-0.65). CONCLUSIONS: Improvements in the structure and access to health services are needed to reduce the time to diagnosis.

Genetic diversity in a Poincianella pyramidalis (Tul.) L.P. Queiroz population assessed by RAPD molecular markers.

Poincianella pyramidalis (Tul.) L.P. Queiroz is an endemic Caatinga (Brazilian savannah biome) species that has been exploited for different purposes, although information is necessary about still existing natural populations. The objective of this study was to evaluate the genetic diversity among 20 P. pyramidalis individuals occurring in a population localized in the Caatinga biome of Paraíba State, aiming at seed collection, using RAPD markers. For the DNA extraction, young shoots of the individuals were used, and amplification was carried out using 20 primers. The obtained markers were converted to a binary matrix, from which a genetic dissimilarity matrix was built using the arithmetic complement of Jaccard's coefficient, and the dendrogram was built by the UPGMA analysis. No amplified fragment was monomorphic, resulting in 100% polymorphism of the analyzed population. The mean genetic diversity among the matrices was 63.28%, ranging from 30.9 to 97.7%. Individuals 09 and 17 showed relevant genetic proximity, and thus planting their seedlings at close sites would not be indicated. The population evaluated in this study showed high genetic diversity, originating twelve groups from the UPGMA hierarchical cluster analysis. Based on the results, individuals 09 and 17 can provide plant material for the evaluation of the physiological performance of P. pyramidalis seeds, and the set of individuals of this population has a high genetic diversity that characterizes them as adequate matrices for projects of restoration and conservation of the seed species.

Laryngeal Neuropathy in Adult Goats With Copper Deficiency.

The aim of this study was to elucidate the cause of a neurological syndrome characterized by stridor in adult goats with clinical signs of copper deficiency. The main clinical signs consisted of apathy, emaciation, pale mucous membranes, mucous nasal discharge, dyspnea, severe achromotrichia, diffuse alopecia, torpor, ataxia, and stridor. When the goats were forced to move, the stridor increased. In a herd of 194 Toggenburg goats, 10 adult goats with clinical signs of copper deficiency were removed from the herd and divided into 2 groups: group 1, which consisted of 4 nannies and 1 buck with stridor, and group 2, which consisted of 4 nannies and 1 buck without stridor. Group 3, used as a control, consisted of 5 adult goats from another flock without any clinical signs of disease. The mean serum copper concentrations were 1.3 ± 0.3 µmol/L in group 1, 8.1 ± 1.1 µmol/L in group 2, and 11.3 ± 2.2 µmol/L in group 3. The mean serum iron concentrations were 42.3 ± 14.2 µmol/L in group 1, 39.1 ± 8.2 µmol/L in group 2, and 20.6 ± 6.1 µmol/L in group 3. The main histological lesions in goats from group 1 were axonal degeneration of the recurrent laryngeal nerves and atrophy of the muscles of vocal folds and of the dorsal cricoarytenoid and right and left cricothyroid muscles. Goats with ataxia had neuronal degeneration and necrosis of cerebellar Purkinje cells and of the cranial cervical ganglion. We concluded that the stridor was caused by axonal degeneration of the recurrent laryngeal nerves due to the severe copper deficiency.

Spatial patterns of water quality in Xingu River Basin (Amazonia) prior to the Belo Monte dam impoundment.

The Xingu River, one of the most important of the Amazon Basin, is characterized by clear and transparent waters that drain a 509.685 km2 watershed with distinct hydrological and ecological conditions and anthropogenic pressures along its course. As in other basins of the Amazon system, studies in the Xingu are scarce. Furthermore, the eminent construction of the Belo Monte for hydropower production, which will alter the environmental conditions in the basin in its lower middle portion, denotes high importance of studies that generate relevant information that may subsidize a more balanced and equitable development in the Amazon region. Thus, the aim of this study was to analyze the water quality in the Xingu River and its tributaries focusing on spatial patterns by the use of multivariate statistical techniques, identifying which water quality parameters were more important for the environmental changes in the watershed. Data sampling were carried out during two complete hydrological cycles in twenty-five sampling stations. The data of twenty seven variables were analyzed by Spearman's correlation coefficients, cluster analysis (CA), and principal component analysis (PCA). The results showed a high auto-correlation between variables (> 0.7). These variables were removed from multivariate analyzes because they provided redundant information about the environment. The CA resulted in the formation of six clusters, which were clearly observed in the PCA and were characterized by different water quality. The statistical results allowed to identify a high spatial variation in the water quality, which were related to specific features of the environment, different uses, influences of anthropogenic activities and geochemical characteristics of the drained basins. It was also demonstrated that most of the sampling stations in the Xingu River basin showed good water quality, due to the absence of local impacts and high power of depuration of the river itself.

Genetic divergence of physiological-quality traits of seeds in a population of peppers.

Brazil has a great diversity of Capsicum peppers that can be used in breeding programs. The objective of this study was to evaluate genetic variation in traits related to the physiological quality of seeds of Capsicum annuum L. in a segregating F2 population and its parents. A total of 250 seeds produced by selfing in the F1 generation resulting from crosses between UFPB 77.3 and UFPB 76 were used, with 100 seeds of both parents used as additional controls, totaling 252 genotypes. The seeds were germinated in gerboxes containing substrate blotting paper moistened with distilled water. Germination and the following vigor tests were evaluated: first count, germination velocity index, and root and shoot lengths. Data were subjected to analysis of variance, and means were compared by Scott and Knott's method at 1% probability. Tocher's clustering based on Mahalanobis distance and canonical variable analysis with graphic dispersion of genotypes were performed, and genetic parameters were estimated. All variables were found to be significant by the F test (P ≤ 0.01) and showed high heritability and a CVg/CVe ratio higher than 1.0, indicating genetic differences among genotypes. Parents (genotypes 1 and 2) formed distinct groups in all clustering methods. Genotypes 3, 104, 153, and 232 were found to be the most divergent according to Tocher's clustering method, and this was mainly due to early germination, which was observed on day 14, and would therefore be selected. Understanding the phenotypic variability among these 252 genotypes will serve as a basis for continuing the breeding program within this family.

Spatial patterns of water quality in Xingu River Basin (Amazonia) prior to the Belo Monte dam impoundment / Padrões espaciais de qualidade de água na Bacia do Rio Xingu (Amazônia) anteriores a barragem de Belo Monte

The Xingu River, one of the most important of the Amazon Basin, is characterized by clear and transparent waters that drain a 509.685 km2 watershed with distinct hydrological and ecological conditions and anthropogenic pressures along its course. As in other basins of the Amazon system, studies in the Xingu are scarce. Furthermore, the eminent construction of the Belo Monte for hydropower production, which will alter the environmental conditions in the basin in its lower middle portion, denotes high importance of studies that generate relevant information that may subsidize a more balanced and equitable development in the Amazon region. Thus, the aim of this study was to analyze the water quality in the Xingu River and its tributaries focusing on spatial patterns by the use of multivariate statistical techniques, identifying which water quality parameters were more important for the environmental changes in the watershed. Data sampling were carried out during two complete hydrological cycles in twenty-five sampling stations. The data of twenty seven variables were analyzed by Spearman's correlation coefficients, cluster analysis (CA), and principal component analysis (PCA). The results showed a high auto-correlation between variables (> 0.7). These variables were removed from multivariate analyzes because they provided redundant information about the environment. The CA resulted in the formation of six clusters, which were clearly observed in the PCA and were characterized by different water quality. The statistical results allowed to identify a high spatial variation in the water quality, which were related to specific features of the environment, different uses, influences of anthropogenic activities and geochemical characteristics of the drained basins. It was also demonstrated that most of the sampling stations in the Xingu River basin showed good water quality, due to the absence of local impacts and high power of depuration of the river itself.

O rio Xingu, um dos mais importantes rios que constituem a bacia amazônica, é caracterizado por águas claras e transparentes que drenam uma bacia hidrográfica de 509,685 km2 com distintas condições hidrológicas, ecológicas e pressões antrópicas ao longo de seu percurso. Assim como nas demais bacias hidrográficas da Amazônia, os estudos no Xingu são raros. A eminente construção da Usina hidrelétrica de Belo Monte, a qual alterará as condições ambientais na bacia, demanda também a realização de estudos que gerem informações relevantes e que forneçam subsídios para um desenvolvimento mais equilibrado e igualitário região amazônica. Desta maneira, o objetivo deste trabalho foi analisar a qualidade de água no rio Xingu e em seus tributários focando em padrões espaciais na área de estudo pelo uso de técnicas de estatística multivariada, identificando quais parâmetros são mais relevantes nas condições de qualidade de água na bacia hidrográfica. As coletas de dados ocorreram durante dois ciclos hidrológicos completos em vinte e cinco estações de amostragem. Os dados de vinte e sete variáveis foram analisados pelos coeficientes de correlação de Spearman, análise Cluster (CA), e análise de componentes principais (PCA). Os resultados apontaram para um elevado contingente de variáveis com elevada correlação entre si (>0,7), sendo que estas altas variáveis foram retiradas das análises multivariadas por fornecerem informações ecológicas redundantes sobre o ambiente estudado. A CA resultou na formação de 6 agrupamentos, os quais foram observados por possuírem qualidade de água consideravelmente distintas pela PCA. Os resultados estatísticos permitiram identificar uma alta variação espacial da qualidade de água superficial na bacia estudada, sendo estas ocasionadas por especificidades do entorno, diferentes usos da água locais, influências de atividades antrópicas e características geoquímicas das bacias drenadas. Pode-se também evidenciar que em grande parte das estações de coleta na bacia do rio Xingu a qualidade de água superficial foi elevada, decorrente da ausência de impactos locais e do alto poder de depuração do rio.

Role of corticosteroid binding globulin in emotional reactivity sex differences in mice.

Sex differences exist for stress reactivity as well as for the prevalence of depression, which is more frequent in women of reproductive age and often precipitated by stressful events. In animals, the differential effect of stress on male's and female's emotional behavior has been well documented. Crosstalk between the gonadal and stress hormones, in particular between estrogens and glucocorticoids, underlie these sex differences on stress vulnerability. We have previously shown that corticosteroid binding globulin (CBG) deficiency in a mouse model (Cbg k.o.) leads, in males, to an increased despair-like behavior caused by suboptimal corticosterone stress response. Because CBG displays a sexual dimorphism and is regulated by estrogens, we have now investigated whether it plays a role in the sex differences observed for emotional reactivity in mice. By analyzing Cbg k.o. and wild-type (WT) animals of both sexes, we detected sex differences in despair-like behavior in WT mice but not in Cbg k.o. animals. We showed through ovariectomy and estradiol (E2) replacement that E2 levels explain the sex differences found in WT animals. However, the manipulation of E2 levels did not affect the emotional behavior of Cbg k.o. females. As Cbg k.o. males, Cbg k.o. females have markedly reduced corticosterone levels across the circadian cycle and also after stress. Plasma free corticosterone levels in Cbg k.o. mice measured immediately after stress were blunted in both sexes compared to WT mice. A trend for higher mean levels of ACTH in Cbg k.o. mice was found for both sexes. The turnover of a corticosterone bolus was increased in Cbg k.o. Finally, the glucocorticoid-regulated immediate early gene early growth response 1 (Egr1) showed a blunted mRNA expression in the hippocampus of Cbg k.o. mutants while mineralocorticoid and glucocorticoid receptors presented sex differences but equivalent mRNA expression between genotypes. Thus, in our experimental conditions, sex differences for despair-like behavior in WT mice are explained by estrogens levels. Also, in both sexes, the presence of CBG is required to attain optimal glucocorticoid concentrations and normal emotional reactivity, although in females this is apparent only under low E2 concentrations. These findings suggest a complex interaction of CBG and E2 on emotional reactivity in females.

Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in hair sheep of northeastern Brazil.

This paper reports a newly described form of skeletal dysplasia affecting Brazilian hair sheep of the Cabugi breed. This breed is characterized by having a short head and in some cases the animals are smaller and more compact than sheep of similar breeds. Lambs born with craniofacial abnormalities and dwarfism that die at 2-6 months of age are frequent in this breed. In a flock of 68 ewes and three rams of the Cabugi breed, 134 lambs were born over a 4-year period. Of these, 14 (10.4%) had marked cranial abnormalities and dwarfism and died or were humanely destroyed, 43 (32%) had a normal face and 77 (57.5%) had the short face characteristic of the breed. Dwarf lambs were much smaller than normal, with short legs, a domed head with retruded muzzle and protruded mandible, sternal deformities and exophthalmic eyes situated more laterally in the face than normal. Microscopical examination of long bones of the limbs, bones of the base of the skull and vertebrae showed no lesions. Bones from four affected lambs and one control lamb were macerated for morphometric examination. Although the length of the spinal cord was similar, there was disproportionate shortening of the appendicular bones, particularly the distal segments. Thus the disease was defined as a skeletal dysplasia characterized by craniofacial deformity and disproportionate dwarfism. It is suggested that the disease is inherited as an incomplete dominant trait. The shortened face, which is a feature of the Cabugi breed, may represent the heterozygous state and the more severe, often lethal, dwarfism may occur in homozygotes.

Dystrophic epidermolysis bullosa in goats.

Clinical, histopathological and ultrastructural findings of caprine dystrophic epidermolysis bullosa (DEB) with autosomal recessive inheritance are reported. The goats presented with exungulation, erosions, crusts and scars on the skin and ulcers in the oral cavity. Microscopically, the skin showed subepidermal separation with clefts filled occasionally with clear eosinophilic fluid, cellular debris or neutrophils. Ultrastructurally, the site of blister formation was the sublamina densa in the epidermal basement membrane zone. In skin with blister formation and in clinically uninvolved skin, the basal lamina was preserved, but the anchoring fibrils were sparse and rudimentary. A twin brother of an affected kid was mated over 5 years with his mother; three out of the 10 kids born presented with epidermolysis bullosa, indicating that the disease has an autosomal recessive mode of inheritance. It is suggested that the disease is similar to human severe generalized recessive DEB.

A randomized controlled trial of a protocol of interviews designed to improve adherence to antiretroviral medications in southern Brazil.

The aim of this study was to evaluate the efficacy of the Portuguese version of the Medication Adherence Training Instrument (MATI) for improving adherence to antiretroviral therapy (ART) in southern Brazil. Two different follow-up modalities were compared in this 225 days randomized controlled study: one based on the MATI protocol and a conventional (non-MATI) clinical follow-up. There were no differences between the groups with the exception of socioeconomic class (P < 0.005). The mean length of continuance in treatment was 111.4 (SD = 13.9) and 137.6 (SD = 17.3) days in the MATI and non-MATI groups, respectively. A Mantel-Cox log-rank test revealed no significant difference between the two interventions (P = 0.34). Despite the sample size limitation, the results from this study indicate that the Portuguese version of the MATI was not more efficacious than the regular follow-up intervention for improving adherence of outpatients to ART.

Nematóides resistentes a alguns anti-helmínticos em rebanhos caprinos no Cariri Paraibano / Nematode resistant to some anthelmintics in dairy goats in Cariri Paraibano, Brazil

Objetivou-se avaliar a resistência de nematódeos a alguns anti-helmínticos em rebanhos caprinos no Cariri Paraibano. Foram utilizados 144 animais no período seco e 120 animais no período chuvoso, fêmeas com idade acima de oito meses de vida e lactantes, distribuídos em 4 grupos: Grupo I não tratado, Grupo II tratado com albendazole a 10 por cento, Grupo III tratado com ivermectina a 1 por cento e Grupo IV tratado com fosfato de levamisole a 18,8 por cento, nas doses recomendadas pelos fabricantes. Para avaliar a resistência, aplicou-se o teste de redução na contagem de ovos por grama de fezes (RCOF) e o cultivo de larvas de helmintos. As amostras fecais foram coletadas no dia do tratamento (dia base) e 7, 14 e 21 dias após o tratamento. No grupo tratado com Albendazole, observaram-se eficácias de 61 por cento, 11 por cento e 24 por cento no período seco e de 55 por cento, 14 por cento e 12 por cento no período chuvoso, aos 7, 14, e 21 dias, respectivamente. No grupo tratado com Ivermectina, a eficácia foi de 14 por cento, 70 por cento e 66 por cento para o período seco, e de 76 por cento, 34 por cento e 71 por cento para o período chuvoso, aos 7, 14 e 21 dias, respectivamente. O grupo tratado com fosfato de Levamisole apresentou percentuais de eficácia de 89 por cento, 79 por cento e 73 por cento no período seco e de 76 por cento, 69 por cento e 67 por cento no período chuvoso, aos 7, 14 e 21 dias, respectivamente. Os resultados obtidos indicam que os nematódeos gastrintestinais de alguns rebanhos caprinos no Cariri Paraibano não são sensíveis aos princípios ativos Albendazole, Levamisole e Ivermectina. Durante o período de estudo foi identificada a presença de parasitas dos gêneros Haemonchus, Trichostrongylus, Oesophagostomum e Strongyloides.

The aim of this paper was to evaluate the resistance of nematodes to some anthelmintics in dairy goats in Cariri Paraibano, Brazil. A total of 144 female goats, over 8 months of age, were used in the dry season and 120 ones during the rainy season, divided into four groups: Group I untreated, Group II treated with albendazole 10 percent, Group III treated with ivermectin 1 percent, and Group IV treated with levamisole phosphate 18.8 percent, at doses recommended by the manufacturer. To evaluate the resistance, the reduction in egg count per gram of feces and the cultivation of larval helminths. The fecal samples were collected on the day of treatment and, after 7, 14 and 21 days of treatment. In the group treated with albendazole, 61 percent, 11 percent and 24 percent of efficiency was observed in the dry period, and 55 percent, 14 percent and 12 percent in the rainy season, at 7, 14, and 21 days respectively. In the group treated with ivermectin, efficacy was 14 percent, 70 percent and 66 percent for the dry period, and 76 percent, 34 percent and 71 percent for the rainy season, at 7, 14 and 21 days respectively. The group treated with phosphate Levamisole showed efficacy rates of 89 percent, 79 percent and 73 percent in the dry period, and 76 percent, 69 percent and 67 percent in the rainy season, at 7, 14 and 21 days. The results indicate that the gastrointestinal nematodes of some dairy goats in Cariri Paraibano are not sensitive to the active Albendazole, Levamisole and Ivermectin. During the study, presence of specimens of the genera Haemonchus, Trichostrongylus, Oesophagostomum and Strongyloides was identified.

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 percent. 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 percent was observed for the F508del mutation, and allele frequencies of 5.41, 4.50, 4.05, and 3.60 percent 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 percent) 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 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.