PKU in Minas Gerais State,Brazil: Mutation Analysis

This work was undertaken in order to ascertain the PKU mutational spectrum in Minas Gerais, Brazil, the relative frequency of the mutations in the State and the origin of these mutations by haplotype determination. Minas Gerais is a trihybrid population formed by miscegenation from Europeans, Africans and Amerindians. All 13 exons of the PAH gene from 78 PKU patients were analyzed, including splicing sites and the promoter region. We identified 30 different mutations and 98% of the PAH alleles were established. A new mutation (Q267X) was identified as well. The most common mutations found were V388M (21.2), R261Q (16.0%), IVS10‐11G>A (15.3%), I65T (5.8%), IVS2+5G>C (5.8%), R252W (5.1%), IVS2+5G>A (4.5%), P281L (3.8%) and L348V (3.2%). These nine mutations correspond to 80% of the PKU alleles in the state. Haplotypes were determined to characterize the origin of the PAH alleles. The majority of the mutations found, with respective haplotypes, are frequent in the Iberian Peninsula. However, there were some mutations that are rare in Europe and four previously unreported mutation‐haplotype associations. I65T and Q267X were found in association with haplotype 38 and may be African in origin or the result of miscegenation in the Brazilian population.     

COVID-19 in medium-sized municipalities in the 14 health macro-regions of Minas Gerais,Brazil

The present study focused on the scenario of confirmed cases of SARS-CoV-2 infection in the state of Minas Gerais (MG), Brazil, from March 2020 to March 2021. We evaluated the evolution of COVID-19 prevalence and death in one municipality from each of the 14 health macro-regions of MG state. Socio-demographic characteristics and variables related to the municipalities were analyzed. The raw dataset used in this study was freely sourced from the website Brasil.io. From the raw dataset, two time series were extracted: the cumulative confirmed cases of COVID-19 and cumulative death counts, and they were compared to the state data using a nowcasting approach. In order to make time series comparisons possible, all data was normalized per 100,000 inhabitants. When analyzing in light of colored wave code interventions initiated in August 2020 in MG, for the majority of the municipalities, there was an absence of clear influence on prevalence and deaths. The national holidays in the first semester of 2020 had a small impact on the COVID-19 prevalence of the municipalities, but the holidays in the second semester of 2020 and beginning of 2021 caused important impacts on COVID-19 prevalence. The low number of ICU beds in some municipalities contributed to the higher number of deaths. The analysis showed here is expected to contribute to the improvement of decision making of the MG government, as it opened a huge possibility to have the total macro-regions and state data analyzed.     

Acari ectoparasites of bats from Minas Gerais,Brazil

Ectoparasites were recovered from Brazilian bats captured from April to November 1997 at or near Parque Estadual do Rio Doce, State of Minas Gerais, southeastern Brazil. Sixty bats were collected, representing three families and 13 species. Five Acari families were recorded: Myobiidae, Trombiculidae, Labidocarpidae, Macronyssidae, and Spinturnicidae. The macronyssid Radfordiella desmodi Radovsky (71 specimens) and the spinturnicid Periglichrus iheringi Oudemans (45 specimens) were the most abundant mite species. They were mainly recorded on Desmodus rotundus (Geoffroy) and Artibeus litratus (Ofers), respectively. Among trombiculid chiggers, the genus Colicus Brennan (55 specimens) was predominant and found mainly on Carollia perspicillata (L.). The current study presents new data about host-parasite relationships and increases the understanding of geographical distribution for some mite and chigger species.     

Diversity of phlebotomine sand flies (Diptera: Psychodidae) in Ibitipoca State Park, Minas Gerais, Brazil

Leishmaniasis is a complex of zoonotic diseases that are endemic to many Brazilian states. They are transmitted to the vertebrates by the bite of the hematophagous female sand fly (Diptera: Psychodidae) vectors. Despite the increasing occurrence of visceral and cutaneous leishmaniasis cases in large urban centers, their transmission continues to occur primarily in a wild environment and may be associated with professional activities, ecotourism activities, or both. This study investigates the ecological parameters of the sand flies present in Ibitipoca State Park, Minas Gerais, Brazil. During 2009, systematic collections of sand flies were made monthly using HP light traps installed at five sites, including three natural settings (a cave, riparian vegetation, and a rain forest), the tourist and researchers' accommodations, and a surrounding domestic livestock area. In total, 161 sand flies (seven species) were collected, the most abundant, particularly in the surrounding domestic livestock area, being Lutzomyia (Psychodopygus) lloydi (Antunes, 1937). Furthermore, a previously unidentified Lutzomyia (Sciopemyia) sp. was prevalent in the cave environment. There are no existing records of the occurrence of leishmaniasis in Ibitipoca State Park; however, the some species of the subgenus Psychodopygus are known vectors of Leishmania spp in Brazil. Hence, the presence of a species of this genus in areas surrounding the park may represent a risk to ecotourism and the local inhabitants. Our study shows the importance of regular monitoring of the various areas used by humans to determine the distribution and spread of sand fly vectors for preventive management to forestall potential risk to health and consequent effect on ecotourists.     

High prevalence of intestinal infections and ectoparasites in dogs, Minas Gerais State (southeast Brazil)

In the present study, 155 dogs euthanized by the Zoonotic Disease Unit of Uberlandia in Minas Gerais State (Southeast Brazil) were autopsied. Ectoparasites were collected, and the intestinal content of dogs was systematically examined for the presence of helminthic parasites. In total, we isolated 5,155 metazoan parasites of eight species (three intestinal helminth species, five ectoparasite species). The cestode Dipylidium caninum was present in 57 dogs (36.8?%), the nematodes Ancylostoma caninum in 30 (19.4?%) and Toxocara canis in 24 (15.5?%), respectively. Among the ectoparasites, 139 (89.7?%) dogs were infested with Rhipicephalus sanguineus, 115 (74.2?%) with Ctenocephalides felis, 5 (3.2?%) with Tunga penetrans and one specimen (0.7?%) with Amblyomma cajennense, while myiasis was found in one dog (0.7?%). In logistic regression analysis, young age (adjusted odds ratio 5.74; 95?% confidence interval 1.18–27.85) and male sex (3.60; 1.24–10.40) were significantly associated with toxocariasis, and crossbreed dogs (8.20; 1.52–44.31), with dipylidiasis. Male (2.23; 1.12–4.43) and crossbreed dogs (5.17; 1.17–22.83) had also a significant higher number of concomitant parasitoses. Spatial distribution of dogs by neighbourhood identified high-risk areas. Our systematic study shows that dogs in Uberlandia carry a high number of parasites which may cause zoonotic diseases in humans; therefore, further specific evidence-based intervention measures are needed.     

A new species of Evandromyia (Diptera: Psychodidae: Phlebotominae) from Minas Gerais State, Brazil

A new species of phlebotomine sand fly found in Minas Gerais state, Brazil, is described and illustrated based on male and female morphological characteristics. The new species belongs to the rupicola series within the subgenus Evandromyia Mangabeira. Both sexes are morphologically close to Evandromyia rupicola (Martins, Godoy & Silva) and Evandromyia grimaldii Andrade Filho, Pinto, Santos & Carvalho and the characteristics for their classification are here presented.     

A fourth chemotype of Lutzomyia longipalpis (Diptera: Psychodidae) from Jaibas, Minas Gerais State, Brazil

Lutzomyia longipalpis (Lutz and Neiva) is a species complex of Lutzomyia pseudolongipalpis (Arrivillaga and Feliciangeli) and at least three other as yet undefined siblings. Isozyme and mitochondrial studies of allopatric populations across Central and South America have suggested the presence of four "clades" that have been hypothesized to have arisen mainly because of geographical isolation mechanisms. Parallel studies of sexual behavior as well as cross-mating and genetic analysis, of both allopatric and sympatric populations, suggest at least four sibling species that do not seem to correspond to the defined four "clades." In an effort to understand this apparent discrepancy, sympatric populations of L. longipalpis from a single South American country, Brazil, are being studied. In Brazil, three putative species can be identified by their male-produced sex pheromones: (S)-9-methylgermacrene-B, 3-methyl-a-himachalene, and a cembrene. We report here that analysis by coupled gas chromatography-mass spectrometry shows that L. longipalpis from Jaibas, Minas Gerais State, Brazil, occurs as two sympatric sex pheromone chemotypes. One chemotype is the cembrene type previously recorded in a L. longipalpis population from Sobral, Ceará State, Brazil, and the other is a new cembrene isomer not previously observed in L. longipalpis. The finding of this new chemotype strongly suggests that the L. longipalpis species complex in Brazil consists of four members rather than the three previously recognized and confirms previous analysis of genetic variation that had suggested the presence of a complex in Brazil.     

Prevalence of nephropathies in children and adolescents and alterations in renal biopsies in Minas Gerais,Brazil, from 1996 to 2010

Renal biopsy is an important method of diagnosis and prognosis in children and adolescents with renal diseases, and there are few studies describing the histopathologic alterations in renal biopsies in these age groups. The aim of this study was to evaluate the incidence of morphologic alterations described in renal biopsies carried out in children and adolescents. Patients aged between 1 month and 18 years were observed from 1996 to 2010 and were separated into 3 age groups: 0 to 6 (group 1, n = 29), 6 to 12 (group 2, n = 31), and 13 to 18 (group 3, n = 77) years. Morphologic alterations were evaluated according to light microscopy, immunofluorescence, and electron microscopy findings. The most common glomerulopathies observed in these different age groups were as follows: group 1—podocytopathy (34.78%), hereditary proteinurias 5 (21.73%), lupus nephritis (13.04%), and Berger disease (8.69%); group 2—podocytopathy (44.44%), acute diffuse glomerulonephritis (22.22%), Berger disease (11.11%), and Alport syndrome or thin membrane disease (11.11%); and group 3—lupus nephritis (22.85%), podocytopathy (20.00%), Berger disease (15.71%), and membranous glomerulopathies (11.42%). This study allows for better knowledge of the prevalence of nephropathies in children and adolescents and shows that a well-supported early diagnosis is indispensable for a more adequate treatment of patients with renal diseases.     

Phenotypic study of peripheral blood leucocytes in HTLV-I-infected individuals from Minas Gerais,Brazil

The human T-cell lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) associated with the HTLV-I is a well-defined clinical-pathological entity in which the virus and host immune responses contribute to the pathological mechanism. In this study, flow cytometric analysis of whole peripheral blood leucocytes (PBL) was performed to evaluate the immunological status of HTLV-I-infected individuals in an effort to better understand the role of the immune system in the development of HAM/TSP. We have evaluated three groups of infected patients including asymptomatic (AS = 18), ambulatory/oligosymptomatic (AM = 14) and hospitalized HAM/TSP individuals (HO = 42). Noninfected healthy blood donors were used for the control group (NI = 32). Our results demonstrated that the HO group presents an increased percentage of circulating T cells and a decreased percentage of B and natural killer (NK) cells, leading to the highest T/B-cell ratio in comparison with the other groups. Interestingly, while an increased percentage of activated CD4+HLA-DR+ T lymphocytes was observed in both AM and HO, only HO presented higher percentage of activated CD8+HLA-DR+ in combination with the highest CD18 surface expression. This was true for all cell populations analysed, including T lymphocytes, monocytes and neutrophils. Moreover, the HO group was distinguished by a dramatic decrease in the percentage of CD8+CD28+ lymphocytes. Taken together, these findings demonstrate a potent cellular immune activation response involving primarily CD8+ T cells that is concomitant with disease progression in HAM/TSP. We also show that an upregulation of CD18 expression, a hallmark for increased cell migratory potential, might play a critical role in the development/maintenance of HAM/TSP.     

Diagnosis of congenital and infantile nephrotic syndromes in renal biopsies in Minas Gerais,Brazil: Six case reports

Congenital or infantile nephrotic syndromes (CNS/INS) correspond to a heterogeneous group of rare diseases in which glomerular renal dysfunction and proteinuria are prominent. The aim of this study is to present six cases of possible CNS/INS with diagnoses based on clinical findings and especially histological, ultrastructural, and immunohistochemical characteristics of renal biopsies. Four cases are presented with diffuse mesangial sclerosis, one of them possibly part of Denys–Drash syndrome and two cases with CNS probably of the Finnish type in patients between 3 months old and 13 years old. The study focuses on the late evolution of Denys–Drash syndrome to end-stage renal disease in a 13-year-old patient and the diagnosis of diffuse mesangial sclerosis in an 8-year-old patient. Thus, it contributes to a better epidemiological characterization of these syndromes, demonstrating cases of CNS/INS in infrequent age groups.     

Identification of bat trypanosomes from Minas Gerais state,Brazil, based on 18S rDNA and Cathepsin-L-like targets

Parasitology Research - Several bat species can be infected by trypanosomes, but there is not much information about which of these parasites infect bats from Triângulo Mineiro and Alto...     

Prevalence and risk factors associated to infection by Toxoplasma gondii in ovine in the State of Alagoas, Brazil

The aim of this study was to evaluate the prevalence of anti-Toxoplasma gondii antibodies and to identify risk factors associated to the infection in the three meso-regions of the State of Alagoas, Brazil. A total count of 23 towns and 27 meat sheep farms were visited where blood samples were collected in order to perform the indirect immunofluorescence test to evaluate the antibodies presence. Questionnaires exploring the production system and nutritional, sanitary, and reproduction handling were handed out. The prevalence rate was 32.9% and the number of foci was 100%. In the multivariate statistical analysis, there was a significant association for the following variables: age (OR = 4.01; C.I. 2.03–7.94), size of the property (or the farm; OR = 0.48; C.I. 0.26–0.90), semi-intensive rearing system (OR = 3.17; C.I. 1.24–8.13), running water source (OR = 3.13; C.I.–1.66–5.87), and presence of cats (OR = 1.72; C.I. 1.08–2.75). It is concluded that sheep of the three meso-regions of the State of Alagoas are exposed to the infection caused by T. gondii with high prevalence. Control and prophylactic measures must be adopted seeking the improvement of the rearing system and the implantation of health promoting programs in cooperation with sheep farmers in order to elucidate the transmission means of this disease.     

Tunga penetrans and further parasites in the giant anteater (Myrmecophaga tridactyla) from Minas Gerais, Brazil

The Brazilian savannah-like area, the Cerrado region, covers large areas of the country and provides a habitat for a multitude of different animal species. The giant anteater (Myrmecophaga tridactyla) is geographically widespread and one of the typical inhabitants of the Cerrado. They are listed as vulnerable by the International Union for Conservation of Nature and Natural Resources. A population loss of at least 30?% over the past 10?years has been estimated based on local extinctions, habitat loss and deaths caused by fires, roadkills and hunting. Little is known about ecological and in particular parasitic conditions of this highly specialised insectivore species. During September and November 2010 we examined three roadkilled giant anteater for the presence of metazoan ecto- and endoparasites. Besides the cestode species Oochoristica tetragonocephala and the tick species Amblyomma nodosum, we found for the first time the flea Tunga penetrans. Beside morphological flea species identification, we compared a fragment of the 16S rRNA gene of eggs, a molecular method utilised for the first time in this combination. The identification of T. penetrans in M. tridactyla represents a new host record and expands the host and distribution range of the zoonotic flea species.     

Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais,Brazil

Biotinidase deficiency is an autosomal recessive inherited metabolic disorder caused by mutations in the BTD gene. Clinical manifestations can be treated and effectively prevented with pharmacological doses of biotin. Nine novel mutations in BTD are reported in 14 children diagnosed by the newborn screening program in Minas Gerais, Brazil, from June 2013 to December 2017. Serum BTD enzyme activity was determined for all cases and some parents. Two of the mutations are deletions and seven missense mutations located in the exonic region of the BTD gene, mostly in exon 4. Two newborns were profoundly biotinidase‐deficient (one homozygous p.A534V [c.1601C > T] and another, double heterozygous for a novel mutation p.R211S [c.631C > A] co‐inherited with an already described mutation p.T532 M [c.1595C > T]). Two mutations were associated with a partial deficiency of biotinidase (p.F361 V [c.1081 T > G] in two homozygous children, and p.S311 T [c.932G > C] in a compound heterozygous child who co‐inherited a known severe mutation p.Y438X [c.1314 T > A]). The remaining five mutations were found in compound heterozygous children. Hence, a definitive conclusion about the degree of biotinidase deficiency is not possible yet. These results emphasize the importance of sequencing the BTD gene as an important tool to gain a better understanding of the correlation between biochemical phenotype and genotype.     

Prevalence of, and risk factors for Kaposi's sarcoma-associated herpesvirus infection among blood donors in Brazil: a multi-center serosurvey

Kaposi's sarcoma-associated herpesvirus (KSHV) is endemic in the Amazon and rare in southern regions of Brazil. However, geographical distribution and epidemiological correlates of infection in this large country are still poorly defined. To estimate the seroprevalence of, and risk factors for, KSHV infection in Brazil, a multi-center study was conducted among 3,493 first-time voluntary unpaid blood donors from Salvador, Sao Paulo and Manaus. Antibodies against KSHV were detected using a whole-virus ELISA validated prior to the serosurvey. Antibodies against the latency-associated nuclear antigen (LANA) were detected by immuno-fluorescence assay (IFA) among ELISA-positive sera and a random sample of ELISA-negative sera. Overall, seroprevalence of KSHV by whole-virus ELISA was 21.7% (95% confidence interval (CI): 20-23.4%) in men and 31.7% (95% CI: 29-34.3%) in women (P<0.0001). KSHV antibodies were detected by IFA-LANA in 3% (95% CI: 2-4.3%) of 867 ELISA-positive samples and in none of 365 randomly selected ELISA-negative samples. In multivariate analysis, KSHV seroprevalence by whole-virus ELISA was independently associated with female sex (odds ratio [OR]=1.6, 95% CI: 1.4-1.9); residence in the Amazon (OR=1.4, 95% CI: 1.2-1.8; compared to Salvador); Caucasian ethnicity (OR=1.3, 95% CI: 1.1-1.6) and herpes simplex virus type 2 (HSV-2) infection (OR=1.3, 95% CI: 1.1-1.6). KSHV seroprevalence did not significantly increase with age, nor was it associated with self-reported sexual behavior. KSHV seroprevalence is high among Brazilian blood donors, particularly from the Amazon region. This study supports the co-existence of sexual and non-sexual routes of KSHV transmission in this population.     

Prevalence and risk factors for Chlamydia trachomatis infection in adolescent females and young women in central Brazil

In order to determine the prevalence and risk factors for Chlamydia trachomatis infection in adolescent females and young women in central Brazil, 296 subjects attending two public health services were evaluated. The overall prevalence of C. trachomatis infection, as determined using polymerase chain reaction, was 19.6% (95% confidence interval [CI], 15.3–24.7). In multivariate analysis, young age (odds ratio [OR]_adjusted 2.32, 95%CI 1.1–4.8, p<0.05) and having 2–3 (OR_adjusted 3.41, 95%CI 1.6–6.3, p<0.05) or ≥4 sexual partners in life (OR_adjusted 3.10, 95%CI 1.1–6.3, p<0.05) were factors significantly associated with chlamydial infection. In conclusion, the prevalence of C. trachomatis infection was high in the studied population and risk factors were related to age and sexual behavior.