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1. Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

   SCIENCE, v.379, n.6632, p.554-+, 2023

   Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'...

2. Biallelic variants in <i>DNA2</i> cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

   JOURNAL OF MEDICAL GENETICS, v.60, n.11, p.1127-1132, 2023

   Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants in ANAPC1 and juvenile cataracts, and type II, with biallelic variants in RECQL4, increased cancer risk ...

3. Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature

   JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, v.54, n.3, p.1181-1212, 2024

   Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare...

4. Childhood-onset systemic lupus erythematosus (cSLE) and malignancy: a nationwide multicentre series review

   ADVANCES IN RHEUMATOLOGY, v.64, n.1, article ID 13, 7p, 2024

   BackgroundIncreased malignancy frequency is well documented in adult-systemic lupus erythematosus (SLE), but with limited reports in childhood-onset SLE (cSLE) series. We explored the frequency of malignancy associated with cSLE, describing clinical and demographic characteristics, disease activi...

5. Disease progression in Sanfilippo type B: Case series of Brazilian patients

   GENETICS AND MOLECULAR BIOLOGY, v.47, n.1, article ID e20230285, 6p, 2024

   Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data...

6. High Fatality Rates in Pediatric Multisystem Inflammatory Syndrome: A Multicenter Experience From the Epicenter of Brazil's Coronavirus Pandemic

   PEDIATRIC INFECTIOUS DISEASE JOURNAL, v.43, n.2, p.109-116, 2024

   Background:Brazil ' s case fatality rate (CFR) of pediatric multisystem inflammatory syndrome in children and adolescents (MIS-C) is among the highest worldwide. Despite these concerns, limited hospital-based and comprehensive pediatric data have been published on MIS-C in Brazilian children.We p...

7. Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis

   JOURNAL OF COMMUNICATION DISORDERS, v.107, article ID 106402, 9p, 2024

   Objective: To investigate the peripheral and central auditory pathways in mucopolysaccharidosis (MPS) individuals. Method: The research sample comprised 15 individuals (one female and 14 males), aged 8 to 46 years. The following procedures were used: medical history survey, otoscopy, speech and p...

8. Reassessing the role of milrinone in the treatment of heart failure and pulmonary hypertension in neonates and children: a systematic review and meta-analysis

   EUROPEAN JOURNAL OF PEDIATRICS, v.183, n.2, p.543-555, 2024

   To evaluate milrinone's impact on pediatric cardiac function, focusing on its specific role as an inotrope and lusitrope, while considering its systemic and pulmonary vasodilatory effects. Search of PubMed, EMBASE, and the Cochrane Library up to August 2023. We included all studies that evaluated...

9. Data-driven, cross-disciplinary collaboration: lessons learned at the largest academic health center in Latin America during the COVID-19 pandemic

   FRONTIERS IN PUBLIC HEALTH, v.12, article ID 1369129, 15p, 2024

   Introduction The COVID-19 pandemic has prompted global research efforts to reduce infection impact, highlighting the potential of cross-disciplinary collaboration to enhance research quality and efficiency.Methods At the FMUSP-HC academic health system, we implemented innovative flow management r...

10. Buccal cell whole exome sequencing improves the diagnostic yield in a Cornelia de Lange Syndrome Brazilian cohort

    EUROPEAN JOURNAL OF HUMAN GENETICS, v.32, suppl.1, p.539-540, 2024