Publications by authors named "C G Porciuncula"

Candida species are common in the human oral microbiota and may cause oral candidiasis (OC) when the microbiota equilibrium is disturbed. Immunosuppressed individuals are susceptible to oral infections as individuals with Down syndrome (IDS) due to particularities of their mouth morphoanatomy, saliva and comorbidities. This study aimed to analyze the molecular epidemiology of Candida spp.

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Article Synopsis
  • The study aimed to describe the demographics and clinical-genetic characteristics of patients with orofacial clefts from a low-income area in Brazil, highlighting the local genetic unit's efforts to meet their health needs.
  • A total of 133 individuals participated, primarily rural residents with isolated cleft lip and palate; about 50% had never undergone surgery, and none had received genetic evaluation prior to the study.
  • The results showed significant unmet medical needs, underscoring the importance of collaborative healthcare efforts, which could be beneficial in other regions of Brazil.
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The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16-57 years), were evaluated through pedigree analysis, medical history, physical examination, measurement of iduronate sulfatase (IDS) activities in plasma and in leukocytes, quantification of glycosaminoglycans (GAGs) in urine, and analysis of the IDS gene.

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We report a female stillborn with typical clinical, radiological, and anatomopathological features of Blomstrand chondrodysplasia. The main findings in this lethal osteochondrodysplasia are osteosclerosis and advanced skeletal maturation. Autosomal recessive inheritance has been proposed because of parental consanguinity of affected siblings in all reported cases, including this one.

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The effective and well tolerated dose of isradipine was determined in 130 Filipino patients with mild to moderate essential hypertension in a multicentre study with a 2-week placebo pretreatment period followed by an 8-week active treatment period. 37 male and 93 female patients (mean age 51 years, mean weight 59.9kg) participated in the study.

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