Abstract Background Progressive multifocal leukoencephalopathy (PML) - immune reconstitution inflammatory syndrome (IRIS) in people living with HIV/AIDS (PLWHA) has been rarely described in low- and middle-income countries. Objective To describe the prevalence of PML-IRIS among PLWHA with PML and its main features in a tertiary hospital in Brazil. Methods We performed a retrospective cohort study. We included PLWHA with PML-IRIS patients admitted at Instituto de Infectologia Emílio Ribas, São Paulo, Brazil, between 2011 and 2021. We retrieved information on neurological manifestations, neuroimaging findings, treatments, and outcomes. Results We identified 11 (11.8%) PML-IRIS cases among 93 patients with definite PML. Eight (73%) cases were men and had a median (IQR) age of 41 (27–50) years. Seven (63.6%) patients developed unmasking PML-IRIS and 4 (36.4%) had paradoxical PML-IRIS. The median (IQR) time from initiation of combined antiretroviral therapy (cART) to IRIS diagnosis was 49 (30–70) days. Ten (90.9%) patients received corticosteroids. There were 4 (36%) in-hospital deaths and 3 were associated with hospital-acquired pneumonia. Among the 7 (64%) patients who survived, 5 (71.5%) had sequelae at discharge. One year after the PML-IRIS diagnosis, 6 (54.5%) patients were alive. Conclusion The prevalence of PML-IRIS was 11.8%. Most patients had unmasking PML-IRIS. In-hospital mortality and morbidity were high. One-year survival was similar to that described in some high-income countries.

Resumo Antecedentes A síndrome inflamatória de reconstituição imune (SIRI) da leucoencefalopatia multifocal progressiva (LEMP) em pessoas vivendo com HIV/Aids (PVHA) foi raramente descrita em países de baixa e média renda. Objetivo Descrever a prevalência da SIRI-LEMP- em PVHA com LEMP e suas principais características em um hospital no Brasil. Métodos Foi realizado um estudo de coorte retrospectivo. Incluímos PVHA com SIRI-LEMP admitidos no Instituto de Infectologia Emílio Ribas, São Paulo, Brasil, entre 2011 e 2021. Recuperamos informações sobre manifestações neurológicas, neuroimagem, tratamento e desfecho. Resultados Identificamos 11 (11,8%) casos de SIRI-LEMP entre 93 pacientes com LEMP definitiva. Oito (73%) casos eram homens e a mediana de idade (amplitude interquartile - AIQ) foi de 41 (27–50) anos. Sete (63,6%) pacientes desenvolveram SIRI-LEMP “desmascarada” e 4 (36,4%) casos apresentaram SIRI-LEMP “paradoxal”. A mediana de tempo (AIQ) desde o início da terapia antirretroviral combinada (cART) até o diagnóstico de SIRI foi de 49 (30–70) dias. Dez (90,9%) pacientes receberam corticoide. Houve 4 (36%) óbitos intra-hospitalares e 3 foram associados à pneumonia hospitalar. Dos 7 (64%) pacientes que sobreviveram, 5 (71,5%) ficaram com sequelas na alta. Um ano após o diagnóstico de SIRI-LEMP, 6 (54,5%) pacientes estavam vivos. Conclusão A prevalência de SIRI-LEMP foi de 11,8%. A maioria dos pacientes apresentava SIRI-LEMP “desmascarada”. A mortalidade e morbidade hospitalar foram altas. A sobrevida em 1 ano foi semelhante à descrita em alguns países de alta renda.

ABSTRACT INTRODUCTION Health systems are one determinant of health; their role is to facilitate timely and equitable access to quality services. The way in which a health system is organized can profoundly affect achievement of its objectives. The main feature of the Chilean health system is the coexistence of a public health insurance program (based on a social insurance model) with several market-based private health insurance companies. This hybrid structure provides an interesting framework for analyzing and evaluating the system’s effects on health inequalities. OBJECTIVE Assess Chilean public and private health insurance schemes’ performance and its effects on health inequalities. METHODS Public health insurance was compared with private insurance using indicators from 2013 (or the closest year) in the following domains: inputs, outputs (provider visits, discharges), outcomes (coverage) and impact (on health, quality of life, finances and patient satisfaction) as well as demographic and social determinant indicators. A conceptual framework for measuring health system performance was used. Data were obtained from administrative records and population-based surveys. RESULTS The publicly insured population had greater health care needs, was older (aging index 83.4 vs. 36.5) and poorer (17.2% vs. 1.5% below the poverty line) than the population covered by private insurers. The public insurer received average monthly funding of US$50.94 per beneficiary and spent US$51.43, while private insurers on average collected US$94.79 monthly per beneficiary, and spent US$69.63 on health services (excluding medical leave benefits). Private health insurance beneficiaries were more likely than their publicly insured counterparts to access specialized medical services (18.3% vs. 9.3%) and dentists (11.2% vs. 5.9%), have laboratory tests (18.1% vs. 4.8%), and undergo surgery (7.8% vs. 5.9%). Risk factor and disease prevalence was lower among private insurance beneficiaries for 16 of 18 tracer conditions, although age-adjusted differences were not significant. Finally, incidence of catastrophic spending was slightly lower among private insurance beneficiaries (3.7% vs. 4.2%), and a greater proportion of them were satisfied or very satisfied with the health system (37% vs. 17%). CONCLUSIONS The relative youth and better financial status of beneficiaries of private insurers is compatible with selection for lower risk. While private plans offer greater financial protection and receive higher user satisfaction ratings than the public plan, differences in financing between the two types of insurance affect availability and utilization of services. This constitutes a structural problem for the Chilean health system. There is an urgent need to move toward an integrated health system, in which incentives are aligned with social insurance objectives.

Defeitos genéticos resultando em deficiência hormonal tireoidiana podem ser encontrados em cerca de 10% dos pacientes com hipotireoidismo congênito permanente, porém a identificação de anormalidades genéticas associadas à forma transitória da doença é extremamente rara. Relatamos o caso de um menino com hipotireoidismo neonatal transitório não diagnosticado no teste de triagem neonatal, associado a malformações extratireoidianas e retardo mental. O paciente é portador de translocação não balanceada t(8;16), e seu tio materno tinha fenótipo similar. A análise cromossômica definiu o cariótipo do paciente como 46,XY,der(8)t(8;16)(q24.3;q22)mat,16qh+. A análise cromossômica array-CGH com o DNA do paciente revelou deleção terminal de ~80 kb no cromossomo 8q24.3qter, e duplicação de ~21 Mb no cromossomo 16q22qter. O gene ZNF252, mapeado na região da deleção no cromossomo 8 do paciente, é altamente expresso na tireoide e pode ser um gene candidato no hipotireoidismo neonatal transitório do paciente. Esse é o primeiro relato de associação de uma translocação cromossômica com a forma transitória do hipotireoidismo congênito. Essa descrição descortina novas hipóteses para a fisiopatologia do hipotireoidismo congênito transitório e também pode contribuir para a definição do fenótipo da translocação não balanceada t(8;16)(q24.3;q22), nunca descrito anteriormente. Arq Bras Endocrinol Metab. 2012;56(8):564-9

Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with the transient form of the disease is extremely rare. We report the case of a boy with transient neonatal hypothyroidism that was undiagnosed in the neonatal screening, associated with extrathyroid malformations and mental retardation. The boy carries an unbalanced translocation t(8;16), and his maternal uncle had a similar phenotype. Chromosomal analysis defined the patient's karyotype as 46,XY,der(8)t(8;16)(q24.3;q22)mat,16qh+. Array-CGH with patient's DNA revealed a ~80 kb terminal deletion on chromosome 8q24.3qter, and a ~21 Mb duplication on chromosome 16q22qter. ZNF252 gene, mapped to the deleted region on patient's chromosome 8, is highly expressed in the thyroid, and may be a candidate gene for our patient's transient neonatal thyroid dysfunction. This is the first report on the association of a chromosomal translocation with the transient form of congenital hypothyroidism. This description creates new hypothesis for the physiopathology of transient congenital hypothyroidism, and may also contribute to the definition of the unbalanced translocation t(8;16)(q24.3;q22) phenotype, which has never been described before. Arq Bras Endocrinol Metab. 2012;56(8):564-9

Introduction: the assessment of nutritional status as an indicator of health allows the identification of risk groups, either due to deficit or excess reserves, and it is accepted that these factors increase the morbimortality as a result of associated diseases. This reality also afects the university population. In the United States, overweight and obesity are frequent and associated with a family history of obesity, while in our setting overweight and obesity do not exceed the 12%. An investigation conducted in the career of Nutrition (Bachelor) from the University of Buenos Aires in 2005 showed a high incidence of decreased protein reserves (31%). Objective: to assess the changes achieved in the organic reserves following food suggestions. Materials and Methods: of the total of students assessed (n=120), the ones selected were those with reserve protein (RP) decreased (n=60) and with caloric reserves (RC) increased (n=14), applying the Anthropometric Fractionation Method proposed by Drinkwater and Ross. A nutritional therapy was suggested in order to correct the disturbance found. After an year, both reserves were assessed again. To describe the changes of the RP, the Z test for paired samples was used and the Wilcoxon Test was used for RC. Results: The results showed significant diferences (p=0.0155;a=0.05) between the frst measurement of RP (2.00 ± 0.12) and the one that followed (2.05 ± 0.19). With respect to the RC significant diferences were observed (p=0.030;a=0.05) between the first measurement (1.83 ± 0.40) and the one that followed (1.61 ± 0.44). Conclusions: The incidence of overweight and obesity was 11.6%. After the dietary suggestions, the 64.2% reduced such reserve, obtaining a diagnosis of normality. However, the high incidence of students who had RP decreased (50% of total measured) should be noted. Of these, 30% aggravated malnutrition in the study period, despite the dietary guidelines suggested.

Introducción: La valoración del estado nutricional como indicador de salud, permite la identificación de grupos de riesgo, ya sea por déficit o exceso de la reservas, aceptándose que dichos factores aumentan la morbimortalidad por enfermedades asociadas. Esta realidad no es ajena a la población universitaria. En Estados Unidos, el sobrepeso y la obesidad resultan frecuentes, asociados a una historia familiar de obesidad, mientras que en nuestro ámbito el sobrepeso y la obesidad no superan el 12%. Una investigación realizada en la carrera de Licenciatura en Nutrición de la Universidad de Buenos Aires en el año 2005 evidenció una alta incidencia de reservas proteicas disminuidas (31%). Objetivo: Valorar las modificaciones logradas en las reservas orgánicas secundarias a sugerencias alimentarias. Material y Métodos: Del total de alumnos valorados (n=120), fueron seleccionados aquellos con reserva proteica (RP) disminuida (n=60) y con reserva calórica (RC) aumentada (n=14). Para la valoración de dichas reservas se aplicó el Método de Fraccionamiento Antropométrico propuesto por Drinkwater y Ross. Se procedió a sugerir una terapia nutricional para la corrección de la alteración encontrada. Al año se valoraron ambas reservas nuevamente. Para describir las modificaciones de la RP se aplicó el Test Z para Muestras Apareadas y para la RC el Test de Wilcoxon. Resultados: Los resultados mostraron diferencias significativas (p=0.0155;a=0.05) entre la primera medición de RP (2.00 ± 0.12) y la siguiente (2.05 ± 0.19). En relación a la RC se observaron diferencias significativas (p=0.030;a=0.05) entre la primera medición (1.83 ± 0.40) y la siguiente (1.61 ± 0.44). Conclusiones: La incidencia de sobrepeso y obesidad fue de 11.6%. Luego de las sugerencias alimentarias el 64.2% disminuyó dicha reserva, obteniendo un diagnóstico de normalidad. Sin embargo, cabe señalar la alta incidencia de alumnos que presentaron RP disminuidas (50% del total medido). De ellos, agravaron la desnutrición el 30% en el período de estudio, a pesar de las pautas alimentarias sugeridas.

This article summarizes the main outlines of a research plan intended to study psyhologycal impact of suffering in people and families in poor living and working conditions. At the same time, an analysis is performed on the kind of public, private or self-management policies carried out as solutions, and the different outcomes for the protagonists. The problem is contextualized from a historical and theorical view, an essential starting point to understand the weak spots of urban habitat, in the same way as the process of precarization in working conditions and its alternatives and solutions was contextualized. Qualitative method and data collection techniques have been used. Semi-structured interviews to key interlocutors were used during field work. Even though analysis procedures are still unfinished, some of the results are discussed.

Este artículo sintetiza los principales lineamientos del diseño de un plan de investigación, cuyos objetivos son el estudio del impacto psíquico producido por los sufrimientos que padecen personas y familias que viven en condiciones precarias de hábitat y trabajo. Simultáneamente, propone analizar el tipo de políticas públicas, privadas o autogestionadas instrumentadas a modo de solución, las que generan distintas consecuencias en los protagonistas. Se presenta una contextualización del problema, desde el punto de vista histórico y teórico, punto de partida indispensable para comprender los aspectos deficitarios del hábitat urbano; del mismo modo que, en anteriores investigaciones, se contextualizó la precarización del trabajo y sus alternativas de solución. La investigación se ejecuta con método cualitativo y son también cualitativas las principales técnicas administradas. Inicialmente, durante el trabajo de campo se administraron entrevistas semi dirigidas a interlocutores claves. Si bien el procedimiento del análisis no está concluido, se presentan y discuten algunos resultados.

A ceratopigmentação, ou tatuagem do estroma corneano, é método utilizado para tratar cosmeticamente lesões corneanas como leucoma e coloboma traumático de íris. Pode-se realizar a aplicação do pigmento pela micropunção estromal ou associada à ceratectomia ou ceratoplastia lamelar. Demonstramos um caso de tatuagem estromal corneana associada a ceratoplastia lamelar em paciente com leucoma corneano extenso, com irregularidade de superfície, que não tolerava lentes de contato e sem prognóstico visual. Houve também correção do estrabismo divergente no mesmo tempo cirúrgico. Após um ano de seguimento, o pigmento mantém-se impregnado no estroma corneano, proporcionando bom aspecto estético. Em conclusão, a técnica da tatuagem associada ao transplante lamelar da córnea constitui bom método para tratamento cosmético do leucoma central com irregularidades da superfície corneana.

Stromal cornea tattooing has been used for esthetic treatment of corneal scars as leukoma and iris coloboma. The coloring agent can be applied through stromal micropuncture or associated with lamellar keratectomy or keratoplasty. We report a case of stromal tattooing associated with lamellar keratectomy in a patient's eye that had extensive leukoma and irregular corneal surface. Visual acuity in the operated eye was no light perception and the patient did not tolerate the use of cosmetic contact lens. Correction of divergent strabismus was also performed during the surgery. After one year follow-up, the ink is still impregnated in the corneal stroma, giving a good esthetic aspect. In conclusion, the technique of corneal tattooing associated with lamellar keratectomy is a good method for the cosmetic treatment of central leukoma with corneal irregularity.

We investigated Individual differences in susceptibility to methylmercury (MeHg) contamination and its relationship with polymorphisms of the detoxifying enzyme glutathione S-transferase (GST). In Brazil, some Amerindian tribes from the Amazon region have an increased level of mercury in their hair. Samples of hair and blood were taken from inhabitants of two villages in the Kayabi and Munduruku Amerindian communities to investigate mercury levels in association with genetic polymorphism of GSTs. Other molecular biological markers were also studied, such as hemoglobin, haptoglobin and glucose 6-phosphate dehydrogenase (G-6-PDH). Higher levels of mercury contamination were found in the Kayabi villagers, who had a null genotype (GSTM1 0/0, also denominated GSTM1 null) frequency of 26%, than in the Munduruku villagers, for which the null genotype frequency was 0%. Individuals with the GSTM1 null phenotype had higher concentrations of mercury in their hair than individuals with GSTM1+/+ phenotypes (F = 21.51, p < 0.0001). No association with other markers studied was observed. This study suggests that GSTM1 may be involved in the biotransformation of mercury in humans.

The distribution of glutathione S-transferase (GST) GSTM1 and GSTT1 null phenotype frequencies in two Brazilian Amerindian tribes, the Munduruku tribe from Missão Cururu village (79 individuals) and the Kayabi tribe (41 individuals), was analyzed by polymerase chain reaction (PCR) amplification. The GST null phenotype frequencies for the Munduruku sample were 0% for GSTM1 and 27% for GSTT1 while for the Kayabi sample the null phenotype frequencies were 27% for GSTM1 and 29% for GSTT1. This is the first report of the absence of the GSTM1 null phenotype in any ethnic group.

O herbicida metolachlor foi avaliado quanto ao seu potencial genotóxico. Em camundongos não houve indução de micronúcleos nos eritrócitos policromáticos de medula óssea; entretanto, com a dose mais forte de 40 mg/kg peso por 48 h, observaram-se efeitos citotóxicos através da queda acentuada na porcentagem de eritrócitos policromáticos em relação aos normocromáticos. O metolachlor também não induziu aberrações cromossômicas em linfócitos humanos quando tratados in vitro, porém na concentração de 2,0 mig/ml de meio ocorreu queda no índice mitótico, demonstrando a toxidez do tratamento. Para se estudar os efeitos genotóxicos de possíveis metabolitos do metolachlor, ratos Wistar foram tratados com duas doses de 50 mg/kg com um intervalo de 24 h. Uma hora após o último tratamento, seus plasmas foram coletados através de punção cardíaca e adicionados às culturas de linfócitos humanos. Os resultados também demonstraram efeitos citotóxicos mas não de mutagenicidade

The herbicide metolachlor was evaluated for genotoxic potential. Metolachlor did not induce micronuclei in mice, however at 40 mg/kg it significantly decreased the percentage of polychromatic erythrocytes, which is a cytotoxic effect. Metolachlor did not induce chromosomal aberrations in human lymphocytes in vitro, but 2.0 mug/ml culture medium resulted in cytotoxicity, decreasing the mitotic index significantly. The indirect exposure test was carried out by adding plasma from metolachlor-pretreated rats to the human lymphocyte cultures. There was no indication of clastogenicity by metolachlor metabolites. On the other hand, plasma of cyclophosphamide-pretreated rats had a significant clastogenic effect

Os autores relatam o caso de paciente com anel do cromossomo 14. Com base neste e na revisão de 28 casos publicados, determinam a freqüência dos sinais e sintomas clínicos, salientam a incidência constante e precoce de crises epilépticas e descrevem suas características. Enumeram as malformações congênitas associadas e chamam a atenção para sua importância na indicação do cariótipo e conseqüente detecção de novos casos.

A patient with ring 14 chromosome is reported. On the basis of this case and of a review of 28 cases published in the literature, the frequency of clinical signs and symptoms is determined, the constant and early incidence, of epileptic seizures is emphasized and their characteristics are described. The associated congenital malformations are listed and their importance for karyotyping and consequent detection of new cases is emphasized.

Resumo Foram estudadas citogeneticamente duas espécies de aves da Família Cuculidae: Playa cayana (Phaenicophaeinae) e Crotophaga major (Crotophoginae) capturadas na região de Manaus (AM). Os cromossomos foram preparados a partir de células da medula óssea, em cultura de curta duração (4 horas). A análise cariotípica foi realizada por métodos convencionais, obtendo-se dados numéricos, morfológicos e métricos dos cromossomos destas duas espécies. A classificação dos cromossomos obedeceu à proposição de Levan et al. (1964). Os cromossomos foram divididos em três grupos: dois de macrocromossomos (grupos A e B) e um de microcromossomos (grupo C). Foram considerados como macrocromossomos, todos aqueles que apresentaram Proporção Relativa maior ou igual a 4%. Playa cayana apresentou 76 cromossomos como número diplóide, dos quais 22 foram considerados como macrocromossomos. O cromossomo Z é submetacêntrico e o segundo do cariótipo, enquanto o W é subtelocêntrico e o décimo primeiro em tamanho. Crotophaga major apresentou 64 cromossomos, dos quais, 22 foram considerados como macrocromossomos. O cromossomo Z é metacêntrico e o quarto do cariótipo, enquanto o cromossomo W é submetacêntrico e o sexto em tamanho.

SUMMARY Two species of birds of the Cuculidae Family, Playa cayana (Phaenicophaeinae) and Crotophaga major (Crotophaginae), captured in Manaus (AM, Brazil) region have been cytogenetically studied. The chromosomes were preparared for 4 hours in culture using bone narrow cells. The karyotypic analyses were done by convencional methods from which numerical, morphological and metrical data of the chromosomes were drawn. The mean size of the macrochromosomes, the Relative Lengths (PR) and Arm Ratlos (B) were calculated on the basis of the measurements obtained. A system on decreasing order of size was used to arrange the chromosomes, designating each chromosome individually. The macrochromosomes were morphologically classified according to Levan et al. (1964). All chromosomes that had PR equal or bigger than 4% were considered as macrochromosomes. P. cayana has 2n complement of 76 chromosomes, from which 22 are considered as macrochromosomes. The Z chromosome is submetacentric and the second of the karyotype, however the W is subtelocentric and the eleventh in size. C. major has 64 chromosomes, from which 22 are macro-chromosomes. The Z chromosome is metacentric and the fourth of the karyotype, but the W chromosome is submetacentric and the sixth in size.

Os autores registram um caso de retardo neuromotor em paciente com cromossomo 1qh+. A análise cromossômica do paciente e três familiares revelou igualmente em todos, aumento do braço longo do cromossomo n.° 1. Entretanto, é considerada a possibilidade de que o quadro clínico do paciente seja subordinado também a outros fatores, não genéticos.

A case of neuromotor retardation in association with chromosome 1qh+ is reported. Chromosomes analysis of the patient and three relatives showed increased long arm of the n.° 1 chromosome, in all of them. However it is emphasized that the clinical feature could be secondary to various non genetics factors, also.

Os autores registram um caso raro de retardo mental e malformações físicas em paciente com anormalidades cromossômicas. A análise cromossômica do paciente revelou cariótipo aparentemente equilibrado. Entretanto, são consideradas as possibilidades de que nos eventos de quebra e rejunção dos cromossomos, tenha ocorrido perda de alguns genes para 5p e/ou 13q; mutação gênica ou, ainda, efeito de posições dos segmentos cromossômicos rearranjados.

An unusual case of mental retardation and physical malformations with chromosome abnormalities in a 9 year old boy is reported. Chromosomal analy- sis showed either breakage and delation from some gens to 5p and/or 13q; genic mutation or, perhaps, efect of position in re-adjusted chromosomic segments.