High-grade serous ovarian cancer remains one of the most lethal malignancies in women. Despite recent advances in surgical and pharmaceutical therapies, survival rates remain poor. A major impediment in management of this disease, that continues to contribute to poor overall survival rates, is resistance to standard carboplatin-paclitaxel combination chemotherapies. In addition to tumor cell intrinsic mechanisms leading to drug resistance, there is increasing awareness of the crucial role of the tumor microenvironment in mediating natural immune defense mechanisms and selective pressures that appear to facilitate chemotherapy sensitivity. We provide an overview of some of the promising new genetic and immunological biomarkers in ovarian cancer and discuss their biology and their likely clinical utility in future ovarian cancer management.

These findings from a Brazilian cohort of patients with ovarian cancer reinforce the association of high STAT1 expression with better response to chemotherapy, providing additional validation of this protein as both a prognostic and predictive biomarker. Collectively, these results together with other recently published studies increase the feasibility of using the STAT1 pathway for the development of novel immunomodulator drugs that could enhance response to treatment.

The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiological profile of MPS in each Brazilian region, we analyzed data collected between 1982 and 2019 by a national reference laboratory and identified 1,652 patients. Using data between 1994 and 2018, the birth prevalence (by 100,000 live births) for MPS was 1.57. MPS II was the most common type of MPS in Brazil, and its birth prevalence was 0.48 (0.94 considering only male births). Regarding the number of cases per region, MPS II was the most frequent in the North and Center-West (followed by MPS VI), and also in the Southeast (followed by MPS I); MPS I and MPS II were the most common types in the South; and MPS VI was the most common in the Northeast (followed by MPS II). The differences observed in the relative frequencies of MPS types across Brazilian regions are likely linked to founder effect, endogamy, and consanguinity, but other factors may be present and need further investigation.

INTRODUCÃO: Estudo retrospectivo com o objetivo de avaliar a prevalência e fatores associados à soropositividade para o HTLV-1/2, no período de 1995 a 2008, no Hemocentro Regional de Uberaba e descrever os doadores soropositivos quanto ao gênero, idade, estado civil, cor de pele e procedência. MÉTODOS: Foram realizados análise estatística descritiva, testes qui-quadrado e odds ratio para comparação de proporções e gráfico de dispersão com coeficiente de correlação linear. RESULTADOS: Dentre x doadores testados, foi encontrada a prevalência de sorologia positiva para o HTLV de 0,02% e indeterminada de 0,09%. Houve uma redução significativa da sorologia positiva para HTLV, no período de 2002 a 2008, em comparação ao período de 1995 a 2001. Dentre os soropositivos, observou predomínio significante no gênero feminino. CONCLUSÕES: Imputamos a queda gradativa de soropositividade no período à exclusão permanente dos doadores de repetição soropositivos e ao aprimoramento dos métodos de triagem clínica e dos testes sorológicos ao longo dos anos com reflexos positivos na segurança transfusional.

No abstract

Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most

Abstract22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this work was to verify the profile of dysmorphic features and heart defects found in patients referred to a reference center in Southern Brazil with clinical findings suggestive of 22q11.2DS. In the overall sample group, only patients with dysmorphic facial features (skull, eyes, ear, and nose) associated with CHD (obstructive pulmonary valve ring, truncus arteriosus, and bicuspid aortic valve associated with atrial septal defect and/or right aortic arch) had a 22q11.2 deletion. These findings proved to be reliable clinical criteria for referral to perform fluorescent in situ hybridization investigation for 22q11.2 deletion.

22q11.2 microdeletion is the most common microdeletion syndrome in humans and occurs with a frequency of 1 in 2,000-6,000 live births. Its main clinical features are associated with a failure to form derivatives of the third and fourth branchial arches during embryonic development. The phenotype includes heart outflow tract defects, craniofacial dysmorphisms (prominent and bulbous tip, external ears malformations, and posterior cleft palate) and endocrinological and immune system dysfunctions, as well as neurological and psychiatric disorders. Patients with this syndrome received different names, such as DiGeorge syndrome and velocardiofacial syndrome, since the recognition was based on the phenotype. Recently, molecular and genomic techniques have shown that this syndrome has great phenotypic heterogeneity. Two children with quite distinct phenotypes from this microdeletion syndrome are described in order to review the most common clinical manifestations and highlight that the great clinical heterogeneity can complicate its recognition by pediatricians.