3-Hydroxyisobutyryl-coenzyme A (CoA) hydrolase deficiency (HIBCHD; MIM: #250620) is a rare autosomal recessive inborn error of metabolism caused by a defect in the HIBCH enzyme, resulting in a deficiency of the conversion of 3-hydroxy-isobutyryl-CoA to 3-hydroxyisobutyric acid, a critical step in valine catabolism. This neurodegenerative disease of infancy is associated with hypotonia, developmental delay, cerebral atrophy and lesions in the basal ganglia on magnetic resonance imaging (MRI). In this study, we describe two unrelated patients with infantile-onset progressive neurodegenerative disease and mutations in HIBCH identified using whole exome sequencing (WES). In Case 1, WES revealed a novel homozygous variant in the HIBCH gene: c.808A>G (p.Ser270Gly). In Case 2, a novel compound heterozygous mutation in the HIBCH gene is described: c.808A>G (p.Ser270Gly) and c.173A>G (p. Asn58Ser). Parent analysis revealed that c.808A>G (p.Ser270Gly) was inherited from the father and c.173A>G (p. Asn58Ser) from the mother. These novel mutations were predicted as a disease-causing mutation. Plasma acylcarnitine analysis was normal in both patients. Physical examination showed similar features, such as axial hypotonia and spastic hypertonia in the legs. The first patient presented with difficult-to-treat seizures, while the second patient has not yet experienced documented seizures. In conclusion, our findings would widen the mutation spectrum of HIBCH deficiency and the phenotypic spectrum of the disease. The potential genotype-phenotype correlation would be profitable for the correct diagnosis, treatment and integral management of patients with HIBCH deficiency.

Background: Prader–Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11–q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome.Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1–q21.Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

INTRODUÇÃOA sífilis congênita é o resultado da disseminação hematogênica do Treponema pallidum da gestante infectada não tratada ou inadequadamente tratada, para infectar por via transplacentária o feto em qualquer fase gestacional ou estágio clínico da doença materna¹.Os principais fatores que determinam a probabilidade de transmissão são o estágio da sífilis na mãe e a duração da exposição do feto intraútero. Todos aceitam a divisão da sífilis em sífilis adquirida, que pode ser: a forma recente (menos de 1 ano de evolução), com as formas primária, secundária e latente recente; e a forma tardia (com mais de 1 ano de evolução), com as formas latente tardia e terciária².A taxa de transmissão vertical da sífilis em mulheres não tratadas é de 70 a 100% nas fases primária e secundária da doença, reduzindo-se para aproximadamente 30% nas fases tardias da infecção materna (latente tardia e terciária). Mais de 50% dos casos notificados são assintomáticos ao nascimento, por isso é muito importante a triagem sorológica da mãe na maternidade 3-8 . Apesar de a transmissão vertical (TV) ter um denominador comum no mecanismo do processo de infecção (mãe-criança), cada um dos agentes infecciosos tem características particulares na penetração do treponema no corpo do embrião, do feto e do recém-nascido. AbsTRACT Introduction: syphilis is a systemic disease of chronic evolution and caused by Treponema pallidum, a spirochete of sexual and vertical transmission, which can produce, respectively, the form of acquired and congenital disease. In Brazil, according to the Ministry of Health (MoH), although the underreporting of cases of congenital syphilis is high, some available data indicate the high magnitude of this problem that especially affects the weakness of pregnant women. Congenital syphilis causes great social impact, which results in deterioration of quality of life on a important stratum of the population, and indirect costs to the economy of the country, which, added to the direct costs resulting from hospitalizations and procedures for the treatment of its complications, increasing the total costs of care of public health. Objective: to compare the collection of blood samples on filter paper (FP) and plasma (gold standard) in prenatal screening, using anti-treponema total (IgG + IgM) in ELISA immunochemical. methods: we studied 1,142 pregnant of the following cities: Itaboraí (N = 131), Itaguaí (N = 597), Niterói (N = 377) and St. João de Meriti (N = 37). Blood samples were collected from the finger and venipuncture of pregnant women in stations of collection of these counties, calculating elapsed time from sample collection to delivery of the report to the council. We calculated the limits of sensitivity, specificity, positive predictive value and negative for the study. Results: Itaboraí showed positive ELISA in 4.58%, in Itaguai, Niterói and St. João de Meriti showed, respectively, 3.18%, 2.65% and 0%. The procedures performed had a sensitivity and specificity of 100%, and the positive and negative predictive criteri...

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before and after study design compared with the historical data, with an overall high risk of bias. The median daily PED admissions decreased to 65% in 39 included studies and a 54% reduction in PICU admission in eight studies. There was a significant decline reported in acute respiratory illness and LRTI in five studies with a median decrease of 63%. We did not find a consistent trend in the incidence of poisoning, but there was an increasing trend in burns, DKA, and a downward trend in trauma and unplanned surgeries.CONCLUSIONS: SDMs in the first wave of the COVID-19 pandemic reduced the global incidence of pediatric acute illnesses. Continual effort and research into the subject should be essential for us to protect the well-being of children.

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