Resumo Introdução: A OMS aponta que infecções por enteroparasitos podem afetar ~3,5 bilhões de pessoas globalmente. Pacientes em hemodiálise (HD) podem ser mais suscetíveis a infecções por patógenos oportunistas devido à função imunológica prejudicada. Avaliamos a infecção por enteroparasitos em pacientes em HD de dois centros de diálise e um grupo controle Métodos: Amostras fecais foram processadas pelas técnicas de Hoffmann, Pons&Janner, Ritchie, Willis e Rugai. Incluímos pacientes com insuficiência renal, de dois centros de diálise, em HD por mais de três meses. O grupo controle consistiu em familiares dos pacientes sem DRC evidente. PCR TaqMan e PCR Multiplex em tempo real foram realizadas para detecção de Cryptosporidium spp. e C. parvum e para diferenciar o complexo Entamoeba (E.) histolytica/E. dispar, respectivamente Resultados: 97 pacientes em HD e 42 controles foram incluídos no estudo. Cinquenta (51,5%) amostras fecais do grupo HD foram positivas para enteroparasitos, assim como 26 (61,9%) do grupo controle (P = 0,260). S. stercoralis foi o único helminto detectado, presente apenas nos pacientes em HD. A coproscopia detectou sete amostras positivas para o complexo E. histolytica/E. dispar, três de pacientes em HD e quatro controles: através da PCR, todas as amostras foram positivas para E. dispar não patogênica. As lâminas de esfregaço fecal coradas com safranina foram todas negativas para Cryptosporidium spp. Entretanto, através da PCR, observou-se amplificação para Crypstosporidium spp. em seis amostras, todas de pacientes em HD. Duas das espécies foram classificadas como C. hominis por PCR-RFLP Conclusões: A infecção por enteroparasitos, detectada por técnicas tradicionais, não foi mais prevalente em pacientes em HD, mas o S. stercoralis foi encontrado exclusivamente entre eles. Vale ressaltar que a infecção por Cryptosporidium spp., que também afetou somente pacientes em HD, pôde ser detectada somente por técnicas de biologia molecular. Introdução 35 3 5 ~3, globalmente (HD prejudicada Métodos Hoffmann PonsJanner Pons Janner Pons&Janner Ritchie Rugai renal meses evidente spp C E (E. histolyticaE histolytica histolytica/E Resultados 9 4 estudo 51,5% 515 51 (51,5% 2 61,9% 619 61 (61,9% P 0,260. 0260 0,260 . 0 260 0,260) S detectado patogênica Entretanto observouse observou se PCRRFLP RFLP Conclusões tradicionais eles molecular ~3 (E 51,5 (51,5 61,9 6 (61,9 026 0,26 ~ 51, (51, 61, (61, 02 0,2 (51 (61 0, (5 (6 (

Abstract Introduction: The World Health Organization (WHO) points out that infection by enteroparasites can affect ~3.5 billion people around the world. Hemodialysis (HD) patients may be more susceptible to infections by opportunistic pathogens due to impaired immune function. We evaluated enteroparasite infection in a sample of HD-patients from two dialysis centers and in a control group. Methods: Fecal samples were processed using the Hoffmann-Pons-Janner, Ritchie, Willis, and Rugai techniques. Patients with kidney failure from two dialysis centers undergoing HD for more than 3 months were included. The control group consisted of relatives of the patients without overt CKD. The TaqMan PCR and multiplex real-time PCR were carried out for detection of Cryptosporidium spp. and C. parvum and to differentiate the Entamoeba (E.) histolytica/E. dispar complex, respectively Results: A total of 97 HD patients and 42 controls were enrolled in the study. Fifty (51.5%) fecal samples from the HD group were positive for enteroparasites, as were 26 (61.9%) from the control group (P = 0.260). S. stercoralis was the single helminth detected and was only present in HD-patients. Coproscopy detected seven positive samples for the E. histolytica/E. dispar complex, three from HD patients and four from controls: by PCR, all samples were positive for the non-pathogenic E. dispar. Safranin-stained fecal smear slides were all negative for Cryptosporidium spp. However, by PCR, amplification for Crypstosporidium spp. was seen in six samples, all from the HD patients. Two of the species were classified as C. hominis by PCR-RFLP Conclusions: Enteroparasite infection as detected by traditional techniques were not more prevalent in HD patients, but S. stercoralis was only found in these patients. It is noteworthy that Cryptosporidium spp. infection, also affecting only HD patients, could only be detected by molecular biology techniques. Introduction WHO (WHO 35 5 ~3. world (HD function HDpatients Methods HoffmannPonsJanner, HoffmannPonsJanner Hoffmann Pons Janner, Janner Hoffmann-Pons-Janner Ritchie Willis included CKD realtime real time spp C E (E. histolyticaE histolytica histolytica/E complex Results 9 4 study 51.5% 515 51 (51.5% 2 61.9% 619 61 (61.9% P 0.260. 0260 0.260 . 0 260 0.260) S HDpatients. nonpathogenic non pathogenic Safraninstained Safranin stained However PCRRFLP RFLP Conclusions ~3 (E 51.5 (51.5 61.9 6 (61.9 026 0.26 ~ 51. (51. 61. (61. 02 0.2 (51 (61 0. (5 (6 (

Abstract Methylenetetrahydrofolate reductase (MTHFR) gene is involved in homocysteine and folic acid metabolism. Tumour suppressor protein TP53 gene maintains cellular and genetic integrity. To date, no studies associated the MTHFR C677T rs1801133 and TP53 Pro72Arg rs1042522 with CRP levels and methotrexate (a folic acid antagonist) treatment outcomes in psoriatic arthritis (PsA) patients. The present study aimed to investigate whether the MTHFR rs1801133 and TP53 rs1042522 gene variants influences CRP levels and methotrexate treatment outcomes in South African Indian and Caucasian PsA patients. PsA patients (n=114) and healthy controls (n=100) were genotyped for the rs1801133 and rs1042522 using RFLP-PCR. (i) Results for rs1801133 genotyping: Caucasian patients had a higher frequency of the variant T-allele versus healthy Caucasian controls (40% versus 22%; OR=2.31, 95% CI=1.10-4.88, p=0.0379). Patients with the variant CT+TT genotypes had higher median CRP levels at baseline versus wildtype CC genotypes (11.70 (5.3-28.80) mg/mL versus 7.40 (5.00-15.05) mg/mL, p=0.0355). After 6 months of methotrexate treatment median CRP levels between genotypes reduced and remained similar. (ii) Results for rs1042522 genotyping: Indian patients had a higher frequency of the variant Arg-allele versus healthy Indian controls (42% versus 29%; OR=1.75, 95% CI=1.07-2.86, p=0.0275). In conclusion, patients with the MTHFR rs1801133 variant T-allele have elevated CRP levels, which can be ameliorated with methotrexate. (MTHFR metabolism TP TP5 integrity date CT C T rs rs180113 ProArg Pro Arg rs104252 antagonist (PsA n=114 n114 n 114 (n=114 n=100 n100 100 (n=100 RFLPPCR. RFLPPCR RFLP PCR. PCR RFLP-PCR i (i genotyping Tallele allele 40% 40 (40 22% 22 OR231 OR 2 31 OR=2.31 95 CI=1.104.88, CI110488 CI CI=1.10 4.88, 1 10 4 88 CI=1.10-4.88 p=0.0379. p00379 p p=0.0379 . 0 0379 p=0.0379) CTTT TT 11.70 1170 11 70 (11.7 5.328.80 532880 5.3 28.80 5 3 28 80 (5.3-28.80 mgmL mg mL 740 7 7.4 5.0015.05 5001505 5.00 15.05 00 15 05 (5.00-15.05 p=0.0355. p00355 p=0.0355 0355 p=0.0355) similar ii (ii Argallele 42% 42 (42 29% 29 OR175 75 OR=1.75 CI=1.072.86, CI107286 CI=1.07 2.86, 07 86 CI=1.07-2.86 p=0.0275. p00275 p=0.0275 0275 p=0.0275) conclusion rs18011 rs10425 n=11 n11 (n=11 n=10 n10 (n=10 (4 OR23 OR=2.3 9 104 CI=1.104.88 CI11048 CI110 CI=1.1 488 4.88 8 CI=1.10-4.8 p0037 p=0.037 037 11.7 117 (11. 328 5.328.8 53288 53 5. 2880 28.8 (5.3-28.8 74 7. 0015 5.0015.0 500150 500 5.0 1505 15.0 (5.00-15.0 p0035 p=0.035 035 OR17 OR=1.7 072 CI=1.072.86 CI10728 CI107 CI=1.0 286 2.86 CI=1.07-2.8 p0027 p=0.027 027 rs1801 rs1042 n=1 n1 (n=1 ( OR2 OR=2. CI=1.104.8 CI1104 CI11 CI=1. 48 4.8 CI=1.10-4. p003 p=0.03 03 11. (11 32 5.328. 5328 288 28. (5.3-28. 001 5.0015. 50015 50 150 15. (5.00-15. OR1 OR=1. CI=1.072.8 CI1072 CI10 2.8 CI=1.07-2. p002 p=0.02 02 rs180 rs104 n= (n= OR=2 CI=1.104. CI1 CI=1 4. CI=1.10-4 p00 p=0.0 (1 5.328 532 (5.3-28 5.0015 5001 (5.00-15 OR=1 CI=1.072. 2. CI=1.07-2 rs18 rs10 (n OR= CI=1.104 CI= CI=1.10- p0 p=0. 5.32 (5.3-2 5.001 (5.00-1 CI=1.072 CI=1.07- rs1 p=0 (5.3- (5.00- p= (5.3 (5.00 (5. (5.0 (5

RESUMEN Con el objetivo del estudio fue determinar la coexistencia y fuentes de alimentación de mosquitos adultos (Diptera: Culicidae) en un centro de salud rural de Piura en Perú, se realizó un estudio descriptivo transversal. Se usaron técnicas entomológicas para capturar e identificar mosquitos, y técnicas de biotecnología molecular para identificar las fuentes de alimentación. Un total de 793 ejemplares de los géneros Culex y Aedes se encontraron coexistiendo, 789 (99,5%) corresponden a Culex quinquefasciatus, 607 (76,9%) fueron machos y 182 (23,1%) hembras. Así mismo, 4 (100%) corresponden a Aedes aegypti hembras. Las fuentes de alimentación de Aedes aegypti fueron Homo sapiens sapiens, y de Culex quinquefasciatus fueron Homo sapiens sapiens y Canis familiaris. Este estudio proporciona evidencia de que los centros de salud rurales estarían actuando como focos de arbovirosis, existiendo el riesgo de que personas que acuden por distintas dolencias, puedan contraer enfermedades transmitidas por C. quinquefasciatus y A. aegypti.

ABSTRACT This study aimed to determine the coexistence and food sources of adult mosquitoes (Diptera: Culicidae) in a rural health center in Piura, Peru by using a descriptive cross-sectional design. Entomological techniques were used to capture and identify mosquitoes, and molecular biotechnology techniques were used to identify food sources. A total of 793 specimens of the Culex and Aedes genera were found coexisting, 789 (99.5%) were Culex quinquefasciatus, 607 (76.9%) were males and 182 (23.1%) were females. Likewise, 4 (100%) corresponded to Aedes aegypti females. The food sources of Aedes aegypti were Homo sapiens sapiens, and Homo sapiens sapiens and Canis familiaris were the food sources of Culex quinquefasciatus. This study provides evidence that rural health centers could be acting as foci of arbovirosis, with the risk that people who come for different ailments could contract diseases transmitted by C. quinquefasciatus and A. aegypti.

RESUMEN Objetivos. Determinar la alimentación del Aedes aegypti en brotes de dengue de dos zonas rurales del Perú durante el ciclón Yaku y El Niño Global del 2023. Material y métodos. Se analizaron ocho muestras de sangre (8 pooles) obtenidas del abdomen de 80 especímenes Aedes aegypti capturados en los distritos rurales de Querecotillo y Marcavelica durante brotes de dengue acontecidos en el ciclón Yaku y en El Niño Global. Se extrajo ADN de las muestras analizadas, se llevó a cabo una PCR dirigida al gen CytB como marcador genético y los productos PCR fueron digeridos enzimáticamente con las restrictasas Hae III y Mwo I. Los productos PCR-RFLP fueron visualizados por electroforesis en gel de agarosa al 4%. Resultados. Se obtuvo ADN de todas las muestras y como producto PCR un amplicón de 358 pb. Así mismo, el único RFLP en Hae III observado fue el de Homo sapiens sapiens (233 y 125 pb). No se observó RFLP en Hae III de Gallus gallus y RFLP en Mwo I de Canis familiaris y Mus musculus. Conclusión. En brotes de dengue de zonas rurales, durante el ciclón Yaku y en El Niño Global, el Aedes aegypti presentó un comportamiento alimenticio antropofílico conservado.

ABSTRACT Objective. To determine the feeding behavior of Aedes aegypti in dengue outbreaks in two rural areas of Peru during the Yaku cyclone and El Niño phenomenon of 2023. Material and methods. Eight blood samples (8 pools) were obtained from the abdomen of 80 Aedes aegypti specimens captured in the rural districts of Querecotillo and Marcavelica during the Yaku cyclone and El Niño dengue outbreaks. DNA was extracted from the analyzed samples, then a PCR was directed at the CytB gene as a genetic marker and the PCR products were enzymatically digested with the restrictases Hae III and Mwo I. The PCR-RFLP products were visualized by agarose gel electrophoresis at 4%. Results. DNA was obtained from all samples and a 358 bp amplicon was obtained as a PCR product. Likewise, the only RFLP found in Hae III was from Homo sapiens sapiens (233 and 125 bp). RFLP was not found in Hae III of Gallus gallus and RFLP in Mwo I of Canis familiaris and Mus musculus. Conclusion. Aedes aegypti showed conserved anthropophilic feeding behavior in dengue outbreaks in rural areas during the Yaku cyclone and El Niño.

RESUMEN Objetivos. Determinar la alimentación del Aedes aegypti en brotes de dengue de dos zonas rurales del Perú durante el ciclón Yaku y El Niño Global del 2023. Material y métodos. Se analizaron ocho muestras de sangre (8 pooles) obtenidas del abdomen de 80 especímenes Aedes aegypti capturados en los distritos rurales de Querecotillo y Marcavelica durante brotes de dengue acontecidos en el ciclón Yaku y en El Niño Global. Se extrajo ADN de las muestras analizadas, se llevó a cabo una PCR dirigida al gen CytB como marcador genético y los productos PCR fueron digeridos enzimáticamente con las restrictasas Hae III y Mwo I. Los productos PCR-RFLP fueron visualizados por electroforesis en gel de agarosa al 4%. Resultados. Se obtuvo ADN de todas las muestras y como producto PCR un amplicón de 358 pb. Así mismo, el único RFLP en Hae III observado fue el de Homo sapiens sapiens (233 y 125 pb). No se observó RFLP en Hae III de Gallus gallus y RFLP en Mwo I de Canis familiaris y Mus musculus. Conclusión. En brotes de dengue de zonas rurales, durante el ciclón Yaku y en El Niño Global, el Aedes aegypti presentó un comportamiento alimenticio antropofílico conservado.

ABSTRACT Objective. To determine the feeding behavior of Aedes aegypti in dengue outbreaks in two rural areas of Peru during the Yaku cyclone and El Niño phenomenon of 2023. Material and methods. Eight blood samples (8 pools) were obtained from the abdomen of 80 Aedes aegypti specimens captured in the rural districts of Querecotillo and Marcavelica during the Yaku cyclone and El Niño dengue outbreaks. DNA was extracted from the analyzed samples, then a PCR was directed at the CytB gene as a genetic marker and the PCR products were enzymatically digested with the restrictases Hae III and Mwo I. The PCR-RFLP products were visualized by agarose gel electrophoresis at 4%. Results. DNA was obtained from all samples and a 358 bp amplicon was obtained as a PCR product. Likewise, the only RFLP found in Hae III was from Homo sapiens sapiens (233 and 125 bp). RFLP was not found in Hae III of Gallus gallus and RFLP in Mwo I of Canis familiaris and Mus musculus. Conclusion. Aedes aegypti showed conserved anthropophilic feeding behavior in dengue outbreaks in rural areas during the Yaku cyclone and El Niño.

RESUMEN Con el objetivo del estudio fue determinar la coexistencia y fuentes de alimentación de mosquitos adultos (Diptera: Culicidae) en un centro de salud rural de Piura en Perú, se realizó un estudio descriptivo transversal. Se usaron técnicas entomológicas para capturar e identificar mosquitos, y técnicas de biotecnología molecular para identificar las fuentes de alimentación. Un total de 793 ejemplares de los géneros Culex y Aedes se encontraron coexistiendo, 789 (99,5%) corresponden a Culex quinquefasciatus, 607 (76,9%) fueron machos y 182 (23,1%) hembras. Así mismo, 4 (100%) corresponden a Aedes aegypti hembras. Las fuentes de alimentación de Aedes aegypti fueron Homo sapiens sapiens, y de Culex quinquefasciatus fueron Homo sapiens sapiens y Canis familiaris. Este estudio proporciona evidencia de que los centros de salud rurales estarían actuando como focos de arbovirosis, existiendo el riesgo de que personas que acuden por distintas dolencias, puedan contraer enfermedades transmitidas por C. quinquefasciatus y A. aegypti.

ABSTRACT This study aimed to determine the coexistence and food sources of adult mosquitoes (Diptera: Culicidae) in a rural health center in Piura, Peru by using a descriptive cross-sectional design. Entomological techniques were used to capture and identify mosquitoes, and molecular biotechnology techniques were used to identify food sources. A total of 793 specimens of the Culex and Aedes genera were found coexisting, 789 (99.5%) were Culex quinquefasciatus, 607 (76.9%) were males and 182 (23.1%) were females. Likewise, 4 (100%) corresponded to Aedes aegypti females. The food sources of Aedes aegypti were Homo sapiens sapiens, and Homo sapiens sapiens and Canis familiaris were the food sources of Culex quinquefasciatus. This study provides evidence that rural health centers could be acting as foci of arbovirosis, with the risk that people who come for different ailments could contract diseases transmitted by C. quinquefasciatus and A. aegypti.

Resumen OBJETIVO: Determinar si existe asociación entre los polimorfismos G-308A (rs1800629) y G-238A (rs361525) del promotor del factor de necrosis tumoral alfa y la pérdida gestacional recurrente. MATERIALES Y MÉTODOS: Estudio observacional, transversal, descriptivo de casos y controles llevado a cabo entre enero de 2020 y diciembre de 2021 en el Hospital de la Mujer de Aguascalientes y en el Laboratorio de Virología e Ingeniería Genética de la Universidad Autónoma de Aguascalientes. Se estudiaron pacientes con pérdidas gestacionales recurrentes y sin éstas, con embarazo normal (controles). RESULTADOS: Se estudiaron 300 pacientes: 150 con pérdida gestacional recurrente y 150 con embarazo normal (controles). Se encontraron 19 pacientes (12.6%) con pérdida gestacional recurrente primaria y 131 (87.4%) con pérdida gestacional recurrente secundaria. Las pacientes con pérdida gestacional recurrente tuvieron, significativamente, mayor edad (28 ± 6.43 en comparación con 26 ± 6.07 años; p = 0.006), más abortos (mediana de 2 en comparación con 0; p = 0.049) y menos semanas de gestación (13.18 ± 12.51 en compoaración con 34.55 ± 10.99; p = 0.0001) que las pacientes del grupo control. De los diferentes modelos genéticos, ninguno demostró un incremento significativo de riesgo para G-308A (rs1800629); sin embargo, para G-238A (rs361525) los modelos heterocigoto (RM 4.36, IC95%: 1.2-15.78; p = 0.012) y dominante (RM 4.36, IC95%: 1.42-13.36; p = 0.005) sí mostraron un aumento de probabilidad. En el análisis multivariado ninguna variable clínica demostró significación estadística. CONCLUSIÓN: En el grupo estudiado, el polimorfismo G-238 A (rs361525) del gen TNF-α mostró asociación con la pérdida gestacional recurrente, no así el polimorfismo G-308A (rs1800629).

Abstract OBJECTIVE: To determine if there is an association between polymorphisms G-308A (rs1800629) and G-238A (rs361525) of the tumor necrosis factor alpha (TNF-α) with the presence of recurrent pregnancy loss in patients treated at the Women's Hospital of the City of Aguascalientes. MATERIALS AND METHODS: An observational, case-control study was conducted in 150 patients with recurrent pregnancy loss and 150 patients with normal pregnancies. Different clinical variables were studied and the polymorphisms of the TNF-α tumor gene, G-308A (rs1800629) and G-238A (rs361525). Were genotyped by restriction fragment length polymorphism (RFLP) reaction and the prevalences of the genotypes between both groups was compared, as well as the Odds ratios (OR) of the genotypes and mutated alleles using various genetic models. Multivariate analysis was performed to determine the effect of clinical variables and the presence of these polymorphisms. RESULTS: Patients with recurrent pregnancy loss were significantly older, had more miscarriages and a lower gestational age than those in the control group. For the G-308A (rs1800629) polymorphism, no significant difference was observed in the prevalences between both groups. For G-238A (rs361525) the prevalence was 6.7% for patients and 1.7% for women with normal pregnancies, with a statistically significant difference (p = 0.004). None of the different genetic models showed a significant increase for G-308A (rs1800629), however, for G-238A (rs361525) the heterozygous (OR 4.36, 95%IC: 1.2-15.78; p=0.012) and dominant (OR 4.36, 95%IC: 1.42-13.36, p=0.005) models did show an increase in said probability. In the multivariate analysis, no clinical variable showed statistical significance. CONCLUSION: The G-238A (rs361525) polymorphism of the tumor necrosis factor alpha gene shows an association, and a higher risk of recurrent pregnancy loss in our population.

Abstract The aim of this study was to investigate the DGAT1 gene polymorphism and its effects on lamb weight in kazakh and tajik sheep breeds. A total of 97 blood samples were collected from purebred (еdilbay х еdilbay) and crossbred lambs (еdilbay x gissar) breеd by the Baiserke Agro Scientific and Production Center in the Talgar District of the Almaty Region of Kazakhstan. Animals were genotyped for DGAT1-AluI polymorphism using the polymerase chain reaction-restriction length polymorphism (PCR-RFLP) method. The result of PCR-RFLP showed that purebred (еdilbay х еdilbay) sheep had three genotypes (CC, CT and TT) and crossbred sheep had two genotypes (CC and CT). The predominant genotype was CC with a frequency of 0.70 and 0.58 in purebred sheep and crossbred sheep breeds, respectively. The DGAT1 gene showed no significant association with live weight of lambs at different times in both breeds studied. However, the study showed that the CC genotype produced higher live weight at day 60 in purebred sheep (CC: 33,668 kg and CT: 32,444) and at day 120 (CC: 41,487 and CT: 40,929) in crossbred lambs. The present study was the first to investigate the polymorphism and relationships between genotypes and lamb live weights for DGAT1 gene in sheep breeds, purebred and crossbred. We conclude that further comprehensive investigations should be done for the exact evidence of the effects of DGAT1/Aluı polymorphism on lamb live weights. DGAT 9 еdilbay gissar Kazakhstan DGAT1AluI DGATAluI AluI reactionrestriction reaction restriction PCRRFLP PCR RFLP (PCR-RFLP method CC, TT CT. . CT) 070 0 70 0.7 058 58 0.5 respectively studied However 6 33668 33 668 33,66 32,444 32444 32 444 12 41487 41 487 41,48 40,929 40929 40 929 DGAT1Aluı DGATAluı Aluı 07 7 0. 05 5 3366 3 66 33,6 32,44 3244 44 1 4148 4 48 41,4 40,92 4092 92 336 33, 32,4 324 414 41, 40,9 409 32, 40,

Resumo O objetivo deste estudo foi investigar o polimorfismo do gene DGAT1 e seus efeitos no peso do cordeiro em duas raças de ovelhas cazaques e tadjiques. Um total de 97 amostras de sangue foram coletadas de cordeiros de raça pura (еdilbay × еdilbay) e mestiços (еdilbay × gissar) criados pelo Baiserke Agro Scientific and Production Center no distrito de Talgar da região de Almaty do Cazaquistão. Os animais foram genotipados para o polimorfismo DGAT1-AluI usando o método de reação em cadeia da polimerase-polimorfismo de comprimento de restrição (PCR-RFLP). O resultado da PCR-RFLP mostrou que ovelhas de raça pura (еdilbay × еdilbay) tinham três genótipos (CC, CT e TT) e ovelhas mestiças tinham dois genótipos (CC e CT). O genótipo predominante foi CC com uma frequência de 0,70 e 0,58 em ovelhas de raça pura e mestiças, respectivamente. O gene DGAT1 não mostrou associação significativa com o peso vivo dos cordeiros, em diferentes momentos, em ambas as raças estudadas. No entanto, o estudo mostrou que o genótipo CC produziu maior peso vivo no dia 60 em ovelhas de raça pura (CC: 33,668 kg e CT: 32,444 kg) e, no dia 120, (CC: 41,487 kg e CT: 40,929 kg) em cordeiros mestiços. O presente estudo foi o primeiro a investigar o polimorfismo e as relações entre genótipos e pesos vivos de cordeiros para o gene DGAT1 em raças de ovelhas, puras e mestiças. Concluímos que investigações mais abrangentes devem ser feitas para a evidência exata dos efeitos do polimorfismo DGAT1/AluI nos pesos vivos dos cordeiros. DGAT tadjiques 9 еdilbay gissar Cazaquistão DGAT1AluI DGATAluI AluI polimerasepolimorfismo polimerase PCRRFLP. PCRRFLP PCR RFLP . (PCR-RFLP) CC, TT CT. CT) 070 0 70 0,7 058 58 0,5 respectivamente momentos estudadas entanto 6 33668 33 668 33,66 32444 32 444 32,44 120 41487 41 487 41,48 40929 40 929 40,92 (PCR-RFLP 07 7 0, 05 5 3366 3 66 33,6 3244 44 32,4 12 4148 4 48 41,4 4092 92 40,9 336 33, 324 32, 1 414 41, 409 40,

ABSTRACT Introduction: Hemoglobinopathy Sβ-thalassemia (HbSβ-thal) has a wide range of clinical and laboratory severity. There is limited information on the natural history of HbSβ-thal and its modulating factors. We described the molecular, hematological, and clinical characteristics of a cohort of children with HbSβ-thal and estimated its incidence in Minas Gerais, Brazil. Methods: Laboratory and clinical data were retrieved from medical records. Molecular analysis was performed by HBB gene sequencing, PCR-RFLP, gap-PCR, and MLPA. Results: Eighty-nine children were included in the study. Fourteen alleles of β-thal mutations were identified. The incidence of HbSβ-thal in the state was 1 per 22,250 newborns. The most common βS-haplotypes were CAR and Benin. The most frequent βthal-haplotypes were V, II, and I. Coexistence of 3.7 kb HBA1/HBA2 deletion was present in 21.3 % of children. β-thalassemia mutations were associated with several clinical and laboratory features. In general, the incidence of clinical events per 100 patient-years was similar for children with HbSβ0-thal, IVS-I-5 G>A, and IVS-I-110 G>A. Children with HbSβ+-intermediate phenotypes had a more severe laboratory and clinical profile when compared with those with HbSβ+-mild ones. βS-haplotypes and α-thalassemia did not meaningfully influence the phenotype of children with HbSβ-thal. Conclusion: The early identification of b-thalassemia alleles may help the clinical management of these children. © 2023 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. This is an open access article under the CC BY-NC-ND license Introduction Sβthalassemia Sβ thalassemia HbSβthal HbSβ thal (HbSβ-thal severity factors molecular hematological Gerais Brazil Methods records sequencing PCRRFLP, PCRRFLP PCR RFLP, RFLP PCR-RFLP gapPCR, gapPCR gap PCR, gap-PCR MLPA Results Eightynine Eighty nine study βthal β identified 22250 22 250 22,25 newborns βShaplotypes βS haplotypes Benin βthalhaplotypes V II I 37 3 7 3. HBA1HBA2 HBAHBA HBA1 HBA2 HBA HBA1/HBA 213 21 21. βthalassemia features general 10 patientyears patient years HbSβ0thal, HbSβ0thal HbSβ0 thal, HbSβ0-thal IVSI5 IVSI IVS 5 IVS-I- G&gtA, GgtA G&gt A, G gt A G>A IVSI110 110 IVS-I-11 G&gtA. A. HbSβ+intermediate HbSβintermediate HbSβ+ intermediate HbSβ+mild HbSβmild mild ones αthalassemia α HbSβthal. thal. Conclusion bthalassemia b 202 Hematologia Celular España SLU S L U S.L.U BYNCND BY NC ND 2225 2 25 22,2 HBA1HBA IVS-I gtA G&gtA Ggt IVSI11 11 IVS-I-1 20 222 22, IVSI1

RESUMO A leishmaniose é um dos mais importantes dilemas de saúde enfrentados pela Organização Mundial da Saúde (OMS) devido à sua ampla disseminação e à grande diversidade de flebotomíneos que a transmitem. Este estudo teve como objetivo detectar a presença de parasitas de Leishmania nos flebotomíneos espalhados em campos de refugiados por meio da técnica PCR-RLFP. Um total de 437 flebotomíneos foi coletado e classificado em duas espécies: Phlebotomus papatasi e Phlebotomus sergenti. O DNA foi extraído das espécies de flebotomíneos das fêmeas e, em seguida, a reação de PCR foi amplificada por dois primers (LITSR, L5.8S) que transcreveram um gene parcial do espaçador transcrito interno (ITS)-1 para o parasita Leishmania com um comprimento de 320 pb. A PCR mostrou a presença de DNA de Leishmania em fêmeas de P. papatasi (10%) e P. sergenti (20%). Para determinar as espécies de Leishmania transmitidas pelas duas espécies de moscas anteriores, a técnica de RFLP-PCR foi realizada pela enzima HaeIII para o DNA de Leishmania extraído delas. A RFLP-PCR mostrou que as fêmeas de P. papatasi transmitiam Leishmania major e as fêmeas de P. sergenti transmitiam Leishmania tropica nos campos de refugiados. Pode-se concluir que a leishmaniose está amplamente distribuída nos campos de refugiados devido à presença de seu vetor. OMS (OMS transmitem PCRRLFP. PCRRLFP RLFP. RLFP PCR-RLFP 43 seguida LITSR, LITSR (LITSR L5.8S L58S LS L5 8S L S ITS1 ITS 1 (ITS)- 32 pb P 10% 10 (10% 20%. 20 20% . (20%) anteriores RFLPPCR RFLP delas Podese Pode se vetor 4 (ITS) 3 (10 2 (20% (ITS (1 (20 ( (2

ABSTRACT Leishmaniasis is one of the most important health dilemmas facing the World Health Organization (WHO), due to it being widespread and the great diversity of sand flies that transmit it. This study aimed to detect the presence of Leishmania parasites in the sand flies spread in Refugee camps by PCR- RLFP technique. A total of 437 sandflies were collected and classified into two species Phlebotomus papatasi and Phlebotomus sergenti. DNA was extracted from the female fly species, then the PCR reaction was amplified by two primers (LITSR, L5.8S) that transcribed a partial internal transcribed spacer (ITS)-1 gene for Leishmania parasite with a length of 320 bp. PCR showed the presence of Leishmania DNA in females of both P. papatasi (10%) and P. sergenti (20%). To determine Leishmania species transmitted by the two previous fly species, the RFLP-PCR technique was performed by the HaeIII enzyme for Leishmania DNA extracted from them. RFLP-PCR showed that P. papatasi females transmitted Leishmania major and P. sergenti females transmitted Leishmania tropica in Refugee camps. It could be concluded that leishmaniasis is widely distributed in Refugee camps due to the presence of its vector. WHO, WHO , (WHO) 43 LITSR, LITSR (LITSR L5.8S L58S LS L5 8S L S ITS1 ITS 1 (ITS)- 32 bp P 10% 10 (10% 20%. 20 20% . (20%) RFLPPCR RFLP them vector (WHO 4 (ITS) 3 (10 2 (20% (ITS (1 (20 ( (2

SUMMARY OBJECTIVE: Nonalcoholic fatty liver disease is a chronic liver disease and a growing global epidemic. The aim of this study was to investigate the association between a visfatin gene (NAMPT) variant and nonalcoholic fatty liver disease, owing to the connection between this disease and insulin resistance, obesity, inflammation, and oxidative stress, and the role of visfatin in these metabolic disorders. METHODS: In the present case-control study, we enrolled 312 genetically unrelated individuals, including 154 patients with biopsy-proven nonalcoholic fatty liver disease and 158 controls. The rs2058539 polymorphism of NAMPT gene was genotyped using the PCR-RFLP method. RESULTS: Genotype and allele distributions of NAMPT gene rs2058539 polymorphism conformed to the Hardy-Weinberg equilibrium both in the case and control groups (p>0.05). The distribution of NAMPT rs2058539 genotypes and alleles differed significantly between the cases with nonalcoholic fatty liver disease and controls. The "CC" genotype of the NAMPT rs2058539 compared with "AA" genotype was associated with a 2.5-fold increased risk of nonalcoholic fatty liver disease after adjustment for confounding factors [p=0.034; odds ratio (OR)=2.52, 95% confidence interval (CI)=1.36–4.37]. Moreover, the NAMPT rs2058539 "C" allele was significantly overrepresented in the nonalcoholic fatty liver disease patients than controls (p=0.022; OR=1.77, 95%CI=1.14–2.31). CONCLUSION: Our findings indicated for the first time that the NAMPT rs2058539 "CC" genotype is a marker of increased nonalcoholic fatty liver disease susceptibility; however, it needs to be supported by further investigations in other populations. OBJECTIVE epidemic (NAMPT resistance obesity inflammation stress disorders METHODS casecontrol 31 individuals 15 biopsyproven biopsy proven rs rs205853 PCRRFLP PCR RFLP method RESULTS HardyWeinberg Hardy Weinberg p>0.05. p005 p p>0.05 . 0 05 (p>0.05) CC "CC AA "AA 2.5fold 25fold fold 2.5 2 5 p=0.034 p0034 034 [p=0.034 OR=2.52, OR252 OR =2.52, 52 (OR)=2.52 95 CI=1.36–4.37. CI136437 CI =1.36–4.37 1 36 4 37 (CI)=1.36–4.37] Moreover C "C p=0.022 p0022 022 (p=0.022 OR177 77 OR=1.77 95%CI=1.14–2.31. 95CI114231 95%CI=1.14–2.31 14 95%CI=1.14–2.31) CONCLUSION susceptibility however populations 3 rs20585 p00 p>0.0 (p>0.05 5fold 25 2. p=0.03 p003 03 [p=0.03 OR=2.52 OR25 252 =2.52 (OR)=2.5 9 CI=1.36–4.37 CI13643 136437 =1.36–4.3 (CI)=1.36–4.37 p=0.02 p002 02 (p=0.02 OR17 7 OR=1.7 95CI11423 95%CI=1.14–2.3 rs2058 p0 p>0. (p>0.0 p=0.0 [p=0.0 OR=2.5 OR2 =2.5 (OR)=2. CI=1.36–4.3 CI1364 13643 =1.36–4. (CI)=1.36–4.3 (p=0.0 OR1 OR=1. 95CI1142 95%CI=1.14–2. rs205 p>0 (p>0. p=0. [p=0. OR=2. =2. (OR)=2 CI=1.36–4. CI136 1364 =1.36–4 (CI)=1.36–4. (p=0. OR=1 95CI114 95%CI=1.14–2 rs20 p> (p>0 p=0 [p=0 OR=2 =2 (OR)= CI=1.36–4 CI13 136 =1.36– (CI)=1.36–4 (p=0 OR= 95CI11 95%CI=1.14– rs2 (p> p= [p= = (OR) CI=1.36– CI1 13 =1.36 (CI)=1.36– (p= 95CI1 95%CI=1.14 (p [p (OR CI=1.36 =1.3 (CI)=1.36 95CI 95%CI=1.1 CI=1.3 =1. (CI)=1.3 95%CI=1. CI=1. =1 (CI)=1. 95%CI=1 CI=1 (CI)=1 95%CI= CI= (CI)= 95%CI (CI) (CI

SUMMARY OBJECTIVES: Nonalcoholic fatty liver disease is the term used for a range of conditions in which fat builds up in the liver and exceeds 5% of hepatocytes without inordinate alcohol intake or other causes of lipid accumulation. Regarding the fact that insulin resistance and obesity play key roles in the pathogenesis of nonalcoholic fatty liver disease, as well as the connection between resistin and these metabolic diseases, the association between nonalcoholic fatty liver disease and a resistin gene (RETN) polymorphism was examined. METHODS: In this genetic case–control association study, 150 biopsy-proven nonalcoholic fatty liver disease patients and 154 controls were enrolled and genotyped for the RETN rs1862513 (-420C>G) gene polymorphism using PCR–RFLP method. RESULTS: The −420C>G genotype frequency distributions in both groups were consistent with Hardy-Weinberg equilibrium (HWE; p>0.05). The carriers of the RETN −420C>G "CC" genotype compared with the "GG" genotype occurred less frequently in the cases with nonalcoholic fatty liver disease than in the controls, and the difference remained significant even after adjustment for confounding factors (p=0.030; OR=0.47, 95%CI=0.36–0.93). Interestingly, the RETN −420C>G "C" allele was also associated with a decreased risk for nonalcoholic fatty liver disease too (p=0.042; OR=0.72, 95%CI=0.53–0.95). CONCLUSION: We found for the first time an association between biopsy-proven nonalcoholic fatty liver disease and RETN −420C>G promoter polymorphism. The carriers of the RETN −420C>G "CC" genotype had a 53% decreased risk for nonalcoholic fatty liver disease. Our findings, however, need to be corroborated by further studies. OBJECTIVES 5 accumulation diseases (RETN examined METHODS casecontrol case control study 15 biopsyproven biopsy proven rs rs186251 420C>G 420CG CG 420C G C (-420C>G PCRRFLP PCR RFLP method RESULTS HardyWeinberg Hardy Weinberg HWE (HWE p>0.05. p005 p p>0.05 . 0 05 p>0.05) CC "CC GG "GG p=0.030 p0030 030 (p=0.030 OR047 OR 47 OR=0.47 95%CI=0.36–0.93. 95CI036093 CI 95%CI=0.36–0.93 95 36 93 95%CI=0.36–0.93) Interestingly "C p=0.042 p0042 042 (p=0.042 OR072 72 OR=0.72 95%CI=0.53–0.95. 95CI053095 95%CI=0.53–0.95 53 95%CI=0.53–0.95) CONCLUSION findings however studies 1 rs18625 p00 p>0.0 p=0.03 p003 03 (p=0.03 OR04 4 OR=0.4 95CI03609 95%CI=0.36–0.9 9 3 p=0.04 p004 04 (p=0.04 OR07 7 OR=0.7 95CI05309 95%CI=0.53–0.9 rs1862 p0 p>0. p=0.0 (p=0.0 OR0 OR=0. 95CI0360 95%CI=0.36–0. 95CI0530 95%CI=0.53–0. rs186 p>0 p=0. (p=0. OR=0 95CI036 95%CI=0.36–0 95CI053 95%CI=0.53–0 rs18 p> p=0 (p=0 OR= 95CI03 95%CI=0.36– 95CI05 95%CI=0.53– rs1 p= (p= 95CI0 95%CI=0.36 95%CI=0.53 (p 95CI 95%CI=0.3 95%CI=0.5 95%CI=0. 95%CI=0 95%CI= 95%CI

SUMMARY OBJECTIVE: The aim of this study was to evaluate the vitamin D receptor (VDR) BsmI variant in morbidly obese patients compared with healthy normal controls. METHODS: The study included 103 patients with morbid obesity and 120 healthy individuals serving as normal controls. The DNA samples obtained from blood were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The gender, age, smoking status, triglycerides, total cholesterol, insulin, mean body mass index, and frequency of allele and genotype of the BsmI variant in the VDR gene in morbidly obese patients were evaluated. RESULTS: The body mass index of the patients was 47.14 ± 7.19. The VDR B/B, B/b, and b/b genotype frequencies were 27.2% versus 28.3%; 54.4% versus 50%; and 18.4% versus 21.7% in the morbidly obese patients and the control group, respectively. There was no statistically significant difference between patients and control subjects in the genotype and allele distribution of the VDR BsmI variant (p>0.05). Both patients and control genotype frequencies are consistent with Hardy-Weinberg equilibrium. CONCLUSION: The BsmI variant in the VDR gene may not seem to predispose to morbid obesity in our study population. Further studies with a larger number of subjects are needed to make a more precise evaluation of this relationship. OBJECTIVE (VDR controls METHODS 10 12 reactionrestriction reaction restriction PCRRFLP PCR RFLP (PCR-RFLP technique gender age status triglycerides cholesterol insulin evaluated RESULTS 4714 47 14 47.1 719 7 19 7.19 BB B B/B Bb b B/b bb 272 27 2 27.2 28.3% 283 28 3 544 54 4 54.4 50% 50 184 18 18.4 217 21 21.7 group respectively p>0.05. p005 p p>0.05 . 0 05 (p>0.05) HardyWeinberg Hardy Weinberg equilibrium CONCLUSION population relationship 1 471 47. 71 7.1 27. 28.3 5 54. 18. 21. p00 p>0.0 (p>0.05 7. 28. p0 p>0. (p>0.0 p>0 (p>0. p> (p>0 (p> (p

ABSTRACT This study aimed to optimize a reliable and rapid genotyping assay to detect the carriers of bovine citrullinemia (BC), bovine leukocyte adhesion deficiency (BLAD), complex vertebral malformation (CVM), and deficiency of uridine monophosphate synthase (DUMPS) in cattle populations. We developed real-time polymerase chain reaction (RT-PCR)-based assays to distinguish wild-type and defective alleles of BLAD, CVM, BC, and DUMPS. Twenty-four bulls in the International Center for Livestock Research and Training were genotyped. At the same time, genotyping was performed for DUMPS and BC using PCR-RFLP, and sequencing was performed for all diseases and compared with the RT-PCR kit we developed. None of the bulls carried mutant alleles of these hereditary autosomal recessive lethal defects. It takes only 2 h for the assay to be completed, including DNA extraction from the sample. These consequences indicate that RT-PCR is an easy, reliable, and rapid method for detecting BLAD, CVM, BC, and DUMPS carriers. Studies show a high frequency of mutant alleles of these genetic defects that cause genetic diseases, and this requires routine test systems to eradicate genetic diseases of economic importance. , (BC) BLAD (BLAD) CVM (CVM) (DUMPS populations realtime real time RTPCRbased RT PCR based wildtype wild type Twentyfour Twenty four genotyped PCRRFLP, PCRRFLP RFLP, RFLP PCR-RFLP RTPCR completed sample easy importance (BC (BLAD (CVM

ABSTRACT Objective: This study was designed to investigate the possible effect of the insulin receptor substrate 1 (IRS1) gene rs1801276 polymorphism on the risk of nonalcoholic fatty liver disease (NAFLD). Subjects and methods: The rs1801276 polymorphism was investigated in 127 controls and 123 biopsy-proven NAFLD patients using PCR-RFLP. Results: No deviation from Hardy-Weinberg equilibrium was discovered for the rs1801276 variant of IRS1 in either NAFLD patients or controls (P>0.05). The distribution of different rs1801276 genotypes and alleles showed significant variations between controls and NAFLD patients. In comparison to rs1801276 ‘CC’ genotype, the "GG+GC" genotype occurred less frequently in NAFLD patients than in controls, which also persisted after adjustment for confounding factors (P = 0.041, OR = 0.60, 95% CI = 0.45-0.93). In comparison with the IRS1 rs1801276 "C" allele, the "G" allele was significantly less prevalent in NAFLD patients than in controls (P = 0.045, OR = 0.69, 95% CI = 0.58-0.91). Conclusions: For the first time, we reported a significant association between the IRS1 rs1801276 polymorphism and biopsy-proven NAFLD. More studies are required to further elucidate the contribution of the IRS1 gene to NAFLD susceptibility. Objective IRS (IRS1 rs rs180127 . (NAFLD) methods 12 biopsyproven biopsy proven PCRRFLP. PCRRFLP PCR RFLP. RFLP PCR-RFLP Results HardyWeinberg Hardy Weinberg P>0.05. P005 P P>0.05 0 05 (P>0.05) ‘CC CC GG+GC GGGC GG GC "GG+GC 0041 041 0.041 060 60 0.60 95 0.450.93. 045093 0.45 0.93 45 93 0.45-0.93) C "C G "G 0045 045 0.045 069 69 0.69 0.580.91. 058091 0.58 0.91 58 91 0.58-0.91) Conclusions time susceptibility (IRS rs18012 (NAFLD P00 P>0.0 (P>0.05 004 04 0.04 06 6 0.6 9 450 0.450.93 04509 0.4 093 0.9 4 0.45-0.93 580 0.580.91 05809 058 0.5 091 5 0.58-0.91 rs1801 P0 P>0. (P>0.0 00 0.0 0. 0.450.9 0450 09 0.45-0.9 0.580.9 0580 0.58-0.9 rs180 P>0 (P>0. 0.450. 0.45-0. 0.580. 0.58-0. rs18 P> (P>0 0.450 0.45-0 0.580 0.58-0 rs1 (P> 0.45- 0.58-