A Mayan founder mutation is a common cause of deafness in Guatemala.

Over 5% of the world's population has varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (ARNHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a ARNHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared with those of Native American, European, and African populations shows a close match with the Mayan population.

Molecular detection of chicken parvovirus in broilers with enteric disorders presenting curving of duodenal loop, pancreatic atrophy, and mesenteritis.

Enteric disorders are an important cause of economic losses in broiler chickens worldwide. Several agents have been associated with enteric problems, such as viruses, bacteria, and parasites. In this study, broiler chickens showing signs of enteric disorders were subjected to molecular diagnosis for several viral agents and also for pathological examination for elucidating this problem. Thus, the chickens were screened for avian nephritis virus (ANV), chicken astrovirus (CAstV), avian rotavirus (ArtV), avian reovirus (AReoV), infectious bronchitis virus (IBV), fowl adenovirus group I (FAdV-1), and chicken parvovirus (ChPV). Postmortem examinations revealed a curving of the duodenal loop (J-like appearance) and intestines filled with liquid and gaseous content. Histopathological analysis of the duodenal loop showed pancreatic atrophy, acute mesenteritis, and enteritis. PCR results showed that ChPV was the sole viral agent detected in samples with lesions such as the curved duodenal loop and pancreatic atrophy. Molecular characterization of the nucleotide and deduced amino acid sequences revealed a high similarity with other strains of ChPV from Brazil, Canada, United States, Europe, and Asia. These findings suggest an association between ChPV and the development of enteritis, pancreatitis, and pancreatic atrophy, which may lead to curling of the duodenal loop. Together, these alterations may disrupt the normal functioning of the digestive system, diminishing digestion and the absorption of dietary nutrients and consequently leading to reduced weight gain, flock impairment, dwarfism, and an elevated feed conversion rate.

Survey of Aspergillus section Flavi presence in agricultural soils and effect of glyphosate on nontoxigenic A. flavus growth on soil-based medium.

AIMS: To evaluate the cultivable mycobiota from agricultural soils exposed to pesticides, the aflatoxigenic capacity of Aspergillus section Flavi strains and the effect of glyphosate on lag phase and growth rates of native nontoxigenic Aspergillus flavus under different water potential (MPa) conditions on soil-based medium. METHODS AND RESULTS: Culturable mycobiota analysis from different agricultural soils was performed by the surface spread method. The effect of glyphosate (0-20 mmol l(-1)) on the growth of A. flavus strains was evaluated on a soil extract solid medium. Mycobiota analysis of crop soils showed the presence of twenty-one genera of filamentous fungi. Aspergillus flavus and Aspergillus niger aggregate strains were isolated from the three soil types. Ninety-two per cent of A. flavus strains were toxigenic. In vitro assay results showed that at -0·70 MPa, a significant increase in growth rate in all strains was recorded at 5 and 20 mmol l(-1) of glyphosate. At -2·78 MPa, this parameter remained constant at all glyphosate concentrations, except in GM4 strain where an increase in growth rate was recorded with increasing pesticide concentrations. At -7·06 MPa, a significant increase in growth rate has also been observed in GM 3 strain with 5 mmol l(-1) and in GM 4 strain with 10 and 20 mmol l(-1). CONCLUSIONS: This study showed that the imperfecti fungi Aspergillus spp., Penicillium spp., Trichoderma spp., Cladosporium spp. and Paecilomyces spp. are isolated as prevalent groups in agricultural soil exposed to pesticides, and the capacity of nontoxigenic A. flavus strains to tolerate different glyphosate concentrations under different water potential (MPa) conditions. SIGNIFICANCE AND IMPACT OF THE STUDY: This manuscript makes a contribution to the knowledge of cultivable fungal populations from agricultural soils exposed to pesticides and the glyphosate tolerance of A. flavus strains.

Evaluation of the role of angiogenic factors in the pathogenesis of schistosomiasis.

Schistosomiasis is one disease produced by helminths, which affect many people in tropical areas. Granuloma formation is the main mechanism involved in the pathogenesis of this disease. Experimental studies have demonstrated angiogenesis (blood vessels formation from pre-existing vessels) in the initial phase of granuloma formation. In the present work, VEGF (vascular endothelial growth factor) levels were analyzed in sera from people diagnosed with different helminthic infections. Patients with schistosomiasis and filariasis had significantly high VEGF levels in compared with healthy people and patients diagnosed with hookworms. In addition, the effects of angiogenesis inhibition using anti-angiogenic factors (endostatin) were evaluated in a schistosomiasis murine model. A lesion decrease was observed in mice infected with Schistosoma mansoni and treated with endostatin. Finally, mechanisms of angiogenesis induction were studied and observed that cercariae antigens stimulated the angiogenic factors by host alveolar macrophages.

[Antiparasitic drugs. Review of the useful drugs in the treatment of classic and emergent parasitic diseases]. / Antiparasitarios. Revisión de los fármacos útiles en el tratamiento de parasitosis clásicas y emergentes.

INTRODUCTION: In the 10 last years, the increase of international travels and immigration from low income countries to Spain was related with an increased of prevalence of parasitic diseases. SOURCE: Critical review of the literature. STRUCTURE: Firstly, several general considerations were made on the antiparasitic drugs revised in this paper. Chemical structures and mechanisms of action of the main drugs with antiparasitic effect were considered in the second part of the review. Further, antiparasitic spectrum of selected drugs, main pharmacokinetical characteristics, usual posology, possible side effects and contraindications were detailed. Finally, some practical aspects, such as interactions and the methods for practical obtention of these drugs are indicated. This information is relevant because in Spain many anti-parasitic drugs may be obtained using non conventional methods. CONCLUSION: In Spain, the increase of parasitic diseases necessitates an update on antiparasitics drugs for their treatment.

Detection and molecular characterization of chicken astrovirus associated with chicks that have an unusual condition known as "white chicks" in Brazil.

Chicken astrovirus (CAstV) is one of many viruses related to enteric diseases in poultry that are associated with Runting-Stunting Syndrome (RSS), which affects young chickens. CAstV was also recently associated with an unusual condition in chicks called "white chicks." Some hatcheries in certain states of Brazil have reported several incubation problems, mortality, and the presence of chicks with white plumages over the past several months. These chicks were termed locally as "white chicks." The present work investigated 30 chicks with this unusual condition using a multidisciplinary approach. Postmortem examination of each chick showed enlarged livers and intestines that were full of liquid and gas (30/30). The pancreas, kidneys, and spleen were pale (30/30). The other organs did not show any macroscopic alterations. CAstV, chicken parvovirus (ChPV), avian nephritis virus (ANV), avian rotavirus (ARtV), avian reovirus (AReoV), infectious bronchitis virus (IBV), and fowl adenovirus group I (FAdV-1) were tested in the intestines, pancreas, proventriculus, gizzard, liver, spleen, bursa, kidneys, thymus, lung, heart, brain, and yolk sac in each chick. All organs and yolk sacs were positive for CAstV in different titres and negative for the other tested viruses. The partial molecular characterization of the ORF 1b gene of CAstV using 28 sequences revealed a high similarity of the nucleotides and amino acids with sequences of CAstV from North America, Europe, and Asia, and our CAstV sequences clustered into a unique group that was separate from the other sequences. These results demonstrated that CAstV was associated with the white chick condition in Brazil. The virus was distributed in most organs, including the brain and yolk sac. These results suggest that the virus could be transmitted vertically. The molecular characterization also revealed that the CAstV associated with white chick condition was molecularly related to other CAstV sequences found worldwide.

Environmental health assessment of deltamethrin in a malarious area of Mexico: environmental persistence, toxicokinetics, and genotoxicity in exposed children.

We reported previously that children are exposed to deltamethrin in malarious areas. In the present work we explored the levels of this insecticide in soil samples and also obtained relevant toxicokinetic data of deltamethrin in exposed children. Results show that, after spraying, indoor levels of deltamethrin in soil samples were higher than outdoor levels. The mean half-life estimated with these data was 15.5 days for outdoor samples and 15.4 days for indoor samples. Children's exposure to deltamethrin was assessed using as biomarkers the urinary concentrations of the metabolites 3-phenoxybenzoic acid (3-PBA) and cis-3-(2,2-dibromovinyl)-2,2-dimethylcyclopropane-1-carboxylic acid (Br2CA). The mean level of both biomarkers reached a peak within the first 24 hr postexposure; 6 months after the initial exposure, urinary levels of 3-PBA and Br2CA were found at levels observed before exposure. Approximately 91% of the total 3-PBA or Br2CA was excreted during the first 3 days after exposure. Therefore, we estimated a half-life for this period, the values for 3-PBA and Br2CA being almost identical (13.5 vs. 14.5 hr). Finally, considering reports about the genotoxicity of deltamethrin, we assessed DNA damage in children before and 24 hr after indoor spraying of deltamethrin; we found no differences in the comet assay end points. In conclusion, we observed exposure to deltamethrin in children, but we did not find any relationship between soil concentrations of deltamethrin and urinary levels of the metabolites. At least for genotoxicity, the exposed children appeared not to be at risk.

COVID-19associated exfoliative shock syndrome / Síndrome de shock exfoliativo por covid-19

RESUMEN El síndrome de shock exfoliativo(SSE) asociado a COVID- 19 es una enfermedad recientemente descrita con características superpuestas de síndrome de shock tóxico (SST) y síndrome de la piel escaldada estafilocócica (SSSS, por sus siglas en inglés). Clínicamente se presenta con fiebre, hipotensión y erupción cutánea exfoliativa.Se expone un caso en donde las lesiones cutáneas por COVID-19 precedieron a las manifestaciones respiratorias.

ABSTRACT The exfoliative shock syndrome (ESS) associated with COVID-19 is a recently described disease with overlapping features of toxic shock syndrome (TSS) and staphylococcal scalded skin syndrome(SSSS). Clinically it presents with fever, hypotension, and exfoliative skin rash. A case is presented in which the skin lesions by COVID-19 preceded the respiratory manifestations.

Clinical and morphological recovery between two episodes of acute glomerulonephritis: a light and electron microscopic study with immunofluorescence.

A 4 year-old girl presented with 2 episodes of acute glomerulonephritis with clinical and morphological recovery between them. Both episodes were preceded by impetigo. The first and third renal biopsies showed glomerulitis with diffuse dense deposits in the mesangium, segmentary intramembranous dense deposits, atypical "humps" and granular C3. The second biopsy, taken between episodes, was considered to be normal. Two years and 5 months after the second episode the clinical evaluation and laboratory tests were normal.

Acute glomerulonephritis in children. An evolutive morphologic and immunologic study of the glomerular inflammation.

This study deals with 80 children showing a clinically typical acute nephritic syndrome with proteinuria and/or hematuria, edema, and hypertension. Their ages ranged between 2 years 5 months and 16 years; 36 cases were female. In 73 cases a streptococcal infection was demonstrated; the remaining 7 cases did not show morphologic differences with the former. No previous renal disease nor familial history of nephropathies were elicited. In every case a renal biopsy was obtained in the first 60 days of clinical disease; in 46 cases a second renal biopsy was obtained sometime between 6 and 45 months since the beginning of the disease. In 3 cases the renal tissue was considered to be normal by light microscopy, immunofluorescence and electron microscopy in both the first and second biopsies. These 3 patients were not considered as cases of morphologic acute glomerulonephritis in spite of showing a typical clinical picture and they are not included in the evaluation of the glomerular inflammatory evolution. In all the remaining 77 cases C3 granular and segmentary intramembranous and mesangial dense deposits were found in the first biopsy. The second biopsy showed morphologic and immunologic normalization in 27% of the cases, slight lesions in 56% and an increase in severity in 17% of the cases.

The effectiveness of oral clonidine as a sedative/anxiolytic and as a drug to blunt the hemodynamic responses to laryngoscopy.

STUDY OBJECTIVE: To determine the effects of oral clonidine premedication on sedative, anxiolytic, and hemodynamic responses during the immediate preoperative period, laryngoscopy/intubation, and postanesthetic recovery. DESIGN: Randomized double-blind assignment to one of four treatment groups (clonidine 0.1 mg, clonidine 0.2 mg, triazolam 0.25 mg, or placebo); n = 10 per group. SETTING: Inpatient surgery in a university-staffed tertiary center. PATIENTS: Forty ASA physical status I and II adults of both sexes scheduled for a variety of procedures requiring general anesthesia. INTERVENTIONS: Anxiety and sedation scored on ordinal scale at time of treatment and 90 minutes later, just prior to anesthetic induction. Standardized induction protocol with automated hemodynamic monitoring at 1-minute intervals and a 45-second laryngoscopy to ensure a vigorous stress response. MEASUREMENTS AND MAIN RESULTS: Triazolam and both doses of clonidine increased sedation at 90 minutes both absolutely and compared with a placebo. Clonidine 0.2 mg decreased anxiety absolutely at 90 minutes but no more than a placebo. Clonidine 0.2 mg decreased systolic, mean, and diastolic blood pressures (BPs) but not heart rate (HR) at 90 minutes. Clonidine 0.2 mg also blunted the increase in systolic blood pressure (SP) [but not in diastolic blood pressure (DP) or HR] that accompanied laryngoscopy. There were no treatment differences in postanesthetic hemodynamics or duration of recovery. CONCLUSIONS: Oral clonidine 0.2 mg was effective in reducing the level of behavioral and hemodynamic responses preoperatively and in blunting systolic hypertension produced by prolonged laryngoscopy.

[Streptococcus pyogenes: penicillin and erythromycin susceptibility in the cities of Neuquen and Cipolletti]. / Streptococcus pyogenes: sensibilidad a penicilina y eritromicina en las ciudades de Neuquen y Cipolletti.

Penicillin resistance has not yet been detected in Streptococcus pyogenes. However macrolide-resistant streptococci have emerged in several countries. Only low rates of erythromycin-resistant S. pyogenes were reported in Argentina, with the exception of a 11.1% observed in Mendoza. The aim of the present study was to determine the susceptibility to penicillin and to erythromycin of 251 consecutive clinically-significant isolates of S. pyogenes obtained from four centers of Cipolletti and Neuquén during the period April-December 1998. The double disk test with erythromycin and clindamycin disks was employed as a screening method to detect ERY-resistant streptococci and to determine the phenotype of macrolide resistance. Disk diffusion was also employed for determining penicillin susceptibility. Macrolide-resistant isolates were also tested for penicillin, ceftriaxone, erythromycin, clindamycin and azithromycin susceptibility by the agar dilution method. Additionally they were also tested for erythromycin susceptibility by E-test (AB Biodisk, Solna, Sweden). All streptococci studied were susceptible to penicillin and thirty of them (12.0%) were resistant to erythromycin. All these resistant isolates were also resistant to azithromycin but susceptible to ceftriaxone and clindamycin. They showed the phenotype M (probably efflux-mediated mechanism) and the MICs of erythromycin ranged between 8 and 16 micrograms/ml. According to these results we conclude that in spite of universal susceptibility to penicillin in S. pyogenes, macrolide resistance is a matter of concern in Neuquén and Cipolletti. At least in those cities it appears to be necessary to routinely perform macrolide susceptibility tests in beta-hemolytic streptococci.

[Probable HIV transmission by female homosexual contact]. / Probable transmision de HIV por contacto homosexual femenino.

Here we report a case of HIV infection in a lesbian lacking other risk factors. She had sought advice for asthenia and unexplained weight loss. The physical examination disclosed oropharyngeal candidiasis and generalized lymphoadenopathies. The patient defined herself as an active sexual partner and denied having any heterosexual intercourse whatsoever. Particle agglutination test proved positive for anti-HIV, as well as two consecutive ELISA assays, confirmed by Western blot. Since there was no history of blood transfusions or intravenous drug addiction, it may be concluded that HIV transmission was most likely due to female homosexual practices.

[Primary lung Kaposi sarcoma associated to AIDS in a heterosexual drug addict man]. / Sarcoma de Kaposi pulmonar primario asociado a SIDA en un varón heterosexual drogadicto.

A case of lung Kaposi sarcoma (KS) in the absence of cutaneomucosal lesions was observed in a 30-year-old heterosexual male with AIDS and a history of intravenous drug addiction. Both chest X-ray and CT scanning disclosed a diffuse nodular pattern in lungs, whereas endoscopy failed to demonstrate endobronchial damage. Cytological examination of the sample taken by transthoracic lung puncture proved compatible with primary KS, a rare neoplasia in heterosexual male drug addicts with AIDS. A year following the diagnosis of KS, the patient died of respiratory failure.

[Eoshinophilia: a practical approach]. / Manejo práctico de una eosinofilia.

In this first part of this paper we review the definition of eosinophilia and their classification according to the degree of elevation of eosinophils/microL. Aetiological factors related with eosinophilia were described in three groups of patients: a). autochthonous non-infected by HIV; b). HIV-infected; and c). arrived from tropical countries (imported eosinophilia). We included an algorithmic approach to the diagnosis, including the diagnostic studies that should be performed in patients with or without organ involvement. Pathological consequences of eosinophilia are indicated in the next part of the paper. Finally, therapeutical options used in patients with eosinophilia are reviewed, with an special emphasis on antihelminthic therapies and the management of the hypereosinophilic syndromes.

Análisis comparativo del micro-rayado en estrías de proyectiles calibre 7. 65 milímetros y 32 de fabricación Indumil: disparados con revólver Llama Cassidy calibre 32 largo / Comparative analysis of a micro-Grove 7. 65 and 32 millimeter projectile of Indumil manufacture, shot by a Cassidy 32 long Llama revolver / A análise comparativa de micro-aranhões em estrias dos projetils calibre 7. 65 milímetros e 32 da manufatura Indumil: atirados com revólver Llama Cassidy calibre 32 longo

Resumen El perito en balística de la Policía Nacional de Colombia, dentro de sus funciones, realiza el procedimiento de cotejo microscópico de vainillas y proyectiles disparados con armas de fuego, dentro del cual se encuentra el análisis de las características de clase, subclase e identidad a proyectiles cuya constitución no es la misma, como es el caso que se ha evidenciado, donde los cartuchos calibre 7.65 mm (para pistola) son utilizados en los revólveres calibre .32 largo; el objetivo del estudio es efectuar un análisis comparativo del micro-rayado de las estrías entre dichos proyectiles; se utilizó el método de observación científica, con enfoque cuantitativo de tipo comparativo, el cual permitió evidenciar que el nivel de uniprocedencias, al realizar cotejos entre estrías de proyectiles calibre 7.65 mm encamisado y .32 largo en plomo, es muy bajo; este resultado se logró documentar y consolidar en una tabla de datos, que al someterla al sistema estadístico obtuvo la cuantificación, disposición y análisis de las observaciones. Se llegó a la conclusión de que no es viable realizar cotejos microscópicos de proyectiles cuyas constituciones sean diferentes, como es el caso de las balas calibre 7.65 mm (encamisado) y .32 largo (plomo); de esta manera se orientan los procedimientos de los profesionales en balística.

Abstract The expert in ballistics of the National Police of Colombia, among its functions is in charge of performing performs the procedure of microscopic comparison of vanillas and projectiles shot with firearms, within which is the analysis of the class, subclass and identity features of projectiles with a constitution differing from each other like in the case having been demonstrated, where 7.65 mm caliber cartridges (for pistols) are used in .32 long caliber revolvers. The objective of the study is to carry out a comparative analysis between micro-scratching present in these projectiles; the scientific observation method was used with a quantitative approach allowing for demonstrating that the level of uni procedences or uni provenances at the time of making comparisons between out grooves of out comparing among to 7.65 mm jacketed he grooves said projectiles; the scientific observation was used, with a quantitative approach of a comparative type, which showed that the level of uni procedences or uni provenances at the time of carrying out en projectiles caliber 7.65 mm jacketed and .32 long lead, is very low; this result was documented and consolidated in a data table, which when subjected to the statistical system obtained the quantification, disposition and analysis of the observations. It was concluded that it is not feasible to perform microscopic comparisons of projectiles whose constitutions are different, as is the case with bullets caliber 7.65 mm (jacketed) and .32 long (lead); in this way the procedures of ballistics professionals are oriented.

Resumo O perito na balística da Policia Nacional da Colômbia, dentro das suas funções, faz o procedimento de comparação microscópica dos cartuchos e os projéteis disparados com armas de fogo, dentro da qual está a análise das características da classe, subclasse e da identidade aos projéteis cuja constituição não é a mesma, como é o caso que foi demonstrado, onde os cartuchos calibre 7.65 milímetros (para a pistola) são usados nos revólveres calibre .32 longo; o objetivo do estudo é realizar uma análise comparativa dos micro-aranhões das estrias entre estes projéteis; o método usado foi a observação científica, com aproximação quantitativa do tipo comparativo, que permitiu demonstrar que o nível das uni-procedências, quando fazer comparações entre estrias dos projéteis calibre 7.65 milímetros encamisado e .32 longo em chumbo, é muito baixo; este resultado logrou-se documentar e consolidar em uma tabela dos dados, que quando é submetida ao sistema estatístico obteve-se a quantificação, a disposição e a análise das observações. A conclusão foi que não é viável fazer comparações microscópicas dos projéteis cujas constituições são diferentes, como é o caso das balas calibre 7.65 milímetros (encamisado) e .32 longo (chumbo); assim os procedimentos dos profissionais na balística são orientados.

Seroprevalence of Coxiella burnetii in domestic ruminants in Gran Canaria Island, Spain.

Coxiella burnetii is the causative agent of Q fever, a zoonosis with worldwide occurrence. In the Canary Islands, the overall seroprevalence in humans has been estimated to be 21.5%. Gran Canaria island concentrates the highest ruminant population in the archipelago and the prevalence of the human infection is 23.5%. To evaluate the seroprevalence in livestock and the affected areas in Gran Canaria island, a total of 1249 ruminants were randomly selected for this study (733 goats, 369 sheep and 147 cattle). The samples were evaluated using an indirect ELISA Kit. The results showed seroprevalences of 60.4%, 31.7% and 12.2% in goats, sheep and cattle, respectively. Based on these results, Q fever could be considered as endemic in Gran Canaria island. Sanitary measures should be taken at the farm level to minimize the risk of exposure of C. burnetii to humans.