Clinics
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To evaluate the quantitative changes and diagnostic performance of volumetric capnography (VCap) parameters in patients with cough variant asthma. ⋯ Patients with cough variant asthma exhibit distinct VCap responses for dead space parameters upon challenge with histamine in comparison to patients with chronic cough. VCap parameters like phase III slope and phase III/phase II slope ratio could be used to aid the diagnosis of cough variant asthma.
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Evidence suggests that infection or inflammation is a major contributor to early spontaneous preterm birth (sPTB). Therefore, this study aimed to investigate the development and causes of maternal infection associated with maternal and neonatal outcomes in women with sPTB. ⋯ Maternal infection was highly prevalent in all cases of sPTBs, although it was not clearly associated with the type of PTB, gestational age, or any adverse neonatal outcomes.
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The use of colorectal self-expanding metal stents (SEMS) as bridge therapy for malignant colorectal obstruction was first reported more than 20 years ago. However, its use remains controversial. In this study, we aimed to compare the long-term survival of patients with potentially resectable malignant colorectal obstruction who had undergone colorectal SEMS placement and emergency surgery. ⋯ No differences in disease-free and overall survival rates were observed in the five-year analysis of patients with resectable colorectal cancer who had undergone SEMS placement or colostomy for the treatment of malignant colorectal obstruction. Patients in the SEMS group had a higher rate of primary anastomosis and a lower rate of temporary colostomy than did those in the surgery group.
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High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant among thousands of genetic polymorphisms is a challenging task. Publicly available genomic databases are useful resources to filter out common genetic variants present in the population and enable the identification of each disease-causing variant. Based on our experience applying these technologies at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), São Paulo, Brazil, we recognized that the Brazilian population is not adequately represented in widely available genomic databases. ⋯ Currently, our database comprises a final cohort of 523 unrelated individuals, including patients or family members managed by different clinics of HCFMUSP. We compared SELAdb with other publicly available genomic databases and demonstrated that this population is very heterogeneous, largely resembling Latin American individuals of mixed origin, rather than individuals of pure European ancestry. Interestingly, exclusively through SELAdb, we identified a spectrum of known and potentially novel pathogenic variants in genes associated with highly penetrant Mendelian disorders, illustrating that pathogenic variants circulating in the Brazilian population that is treated in our clinics are underrepresented in other population databases. SELAdb is freely available for public consultation at: http://intranet.fm.usp.br/sela.