Relationship between sociodemographic, clinical, and laboratory characteristics and severity of COVID-19 in pediatric patients.

COVID-19 affects children less seriously than adults; however, severe cases and deaths are documented. This study objective is to determine socio-demographic, clinical and laboratory indicators associated with severe pediatric COVID-19 and mortality at hospital entrance. A multicenter, retrospective, cross-sectional study was performed in 13 tertiary hospitals in Bolivia. Clinical records were collected retrospectively from patients less than 18 years of age and positive for SARS-CoV-2 infection. All variables were measured at hospital entrance; outcomes of interest were ICU admission and death. A score for disease severity was developed using a logistic regression model. 209 patients were included in the analysis. By the end of the study, 43 (20.6%) of children were admitted to the Intensive care unit (ICU), and 17 (8.1%) died. Five indicators were independently predictive of COVID-19 severity: age below 10 years OR: 3.3 (CI95%: 1.1-10.4), days with symptoms to medical care OR: 2.8 (CI95%: 1.2-6.5), breathing difficulty OR: 3.4 (CI95%: 1.4-8.2), vomiting OR: 3.3 (CI95%: 1.4-7.4), cutaneous lesions OR: 5.6 (CI95%: 1.9-16.6). Presence of three or more of these risk factors at hospital entrance predicted severe disease in COVID-19 positive children. Age, presence of underlying illness, male sex, breathing difficulty, and dehydration were predictive of death in COVID-19 children. Our study identifies several predictors of severe pediatric COVID-19 and death. Incorporating these predictors, we developed a tool that clinicians can use to identify children at high risk of severe COVID-19 in limited-resource settings.

MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C Polymorphisms and Disease Activity in Mexicans with Rheumatoid Arthritis Treated with Methotrexate.

AIM: To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX). MATERIALS AND METHODS: Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28). Single nucleotide polymorphisms (SNPs) genotyping was performed by allelic discrimination using real-time polymerase chain reaction. RESULTS: Differences in genotype (homozygotic or heterozygotic for each allele), allele distributions, and phenotype were not statistically different between the RA group and control populations. We did not find any association between the studied polymorphisms and disease activity nor with the intragroup variables (e.g., clinical activity, body mass index, and single- or combined-drug treatment) or between genetic markers; we also did not find any association within the RA group or between the RA group and control populations. CONCLUSION: Additional studies of more polymorphisms related to this or other metabolic pathways are required to determine the influence of genetics on disease activity in RA.

MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis.

MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. The A163G polymorphism in osteoprotegerin (OPG) has been studied in osteoporosis with controversial results. The objective of the present study was to investigate the association(s) among MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis. The femoral neck and lumbar spine bone mineral densities (BMDs) were measured in 71 RA patients, and genotyping for the three polymorphisms was performed via restriction fragment length polymorphism analysis. Patients with osteoporosis/osteopenia exhibited statistically significant differences in the genotype frequencies of MTHFR C677T as well as an association with femoral neck BMD; TT homozygotes had lower BMDs than patients with the CT genotype, and both of these groups had lower BMDs than patients with the CC genotype. The associations of the MTHFR C677T polymorphism with osteoporosis/osteopenia and femoral neck BMD suggest that these polymorphisms confer a risk of developing osteoporosis in patients with rheumatoid arthritis, a risk that may be reduced with folate and B complex supplementation.

[Caudal duplication: case report]. / Duplicación caudal: reporte de caso.

BACKGROUND: The caudal duplication syndrome is defined by the association between gastrointestinal, genitourinary, and distal neural tube malformations and duplications. We presented a case report and the possible embryologic origin is discussed. CLINICAL CASE: We describe a twenty-one year female patient, with clinical and imaging diagnosis of caudal duplication. She has normal psychomotor development. CONCLUSIONS: The current case integrates a Caudal Duplication with no alteration of the spinal column. We propose that this malformation result from an insult in the primitive hindgut.

Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.

The goal of this project was to identify families with autosomal dominant hypercholesterolemia (ADH) to facilitate early detection and treatment and to provide genetic counselling as well as to approximate the mutational diversity of ADH in Mexico. Mutational analysis of the LDLR and APOB genes in 62 index cases with a clinical and/or biochemical diagnosis of ADH was performed. Twenty-five mutations (24 LDLR, 1 APOB) were identified in 38 index cases. A total of 162 individuals with ADH were identified using familial segregation analysis performed in 269 relatives of the index cases. In addition, a novel PCSK9 mutation, c.1850 C>A (p.Ala617Asp), was detected. The LDLR mutations showed the following characteristics: (1) four mutations are novel: c.695 -1G>T, c.1034_1035insA, c.1586 G>A, c.2264_2273del; (2) the most common mutations were c.682 G>A (FH-Mexico), c.1055 G>A (FH-Mexico 2), and c.1090 T>C (FH-Mexico 3); (3) five mutations were identified in 3 or more apparently unrelated probands; (4) three mutations were observed in a true homozygous state; and (5) four index cases were compound heterozygous, and one was a carrier of two mutations in the same allele. These results suggest that, in Mexico, ADH exhibits allelic heterogeneity with 5 relatively common LDLR mutations and that mutations in the APOB gene are not a common cause of ADH. This knowledge is important for the genotype-phenotype correlation and for optimising both cholesterol lowering therapies and mutational analysis protocols. In addition, these data contribute to the understanding of the molecular basis of ADH in Mexico.

A de novo interstitial 6q deletion in a boy with a split hand malformation.

We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or indirectly to limb development.

Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?

Three siblings with postaxial polydactyly type A, congenital heart defect (single atrium), mental retardation, microcephaly, a distinctive facial appearance, skeletal anomalies and neonatal macrosomy were studied. Comparison with other cardiomelic syndromes previously described in the literature lead us to conclude that this is a new faciocardiomelic syndrome probably inherited as an autosomal recessive trait.

A 45,X sterile male with Yp disguised as 21p.

An azoospermic male was found to have, by means of banding techniques, a 45,X karyotype including a monocentric chromosome 21 with an euchromatic short arm that looked similar to Yp. This rearranged chromosome was further characterized by FISH with a whole Y chromosome paint and the alphoid repeats DYZ3 and D13Z1/D21Z1; the former probe gave a positive signal onto such a peculiar arm without spreading into the long arm, whereas the alphoid repeats revealed an apparent compound centromere with Y- and 21-sequences. Therefore, an unbalanced Y;21 whole arm translocation was concluded and the karyotype written as 45,X.ish der(Y;21)(p10;q10)(wcpY+,DYZ3+,D13Z1/D21Z1+). This patient represents the first case of a Y;21 translocation in an apparent 45,X male, constitutes the fifth instance of a 45,X sterile male, and conforms to previously established karyotype-phenotype correlations.

Identificación de factores de riesgo y protectores asociados a violencias y accidentes en adolescentes y jóvenes de Córdoba / Protector and risk factors identification related to violences and accidents of adolescents and youngs in Cordoba

A fin de identificar probables factores de riesgo y protección en la mortalidad por causas violentas en los adolescentes de la ciudad de Córdoba, se revelaron los datos de 1067 historias clínicas correspondientes a egresos del Hospital Municipal de Urgencias, de jóvenes de 14 a 24 años internados durante el año 1991, y se analizaron 734 ( el 68,8 por ciento) correspondientes a causas violentas. De una muestra sistemática de 50 casos se obtuvo información por medio de entrevistas semiestructuradas sobre datos vitales, antecedentes de riesgos en el desarrollo e historia familiar, situaciones presentes en el momento del traumatismo, secuelas, pérdida de tiempo productivo y reinserción a actividades habituales de estudio y trabajo. El equipo de entrevistadores estaba compuesto por jóvenes, alumnos de psicología y medicina de la Universidad Nacional de Córdoba. Se extrajeron datos que servirán para orientar programas y políticas de prevención en el tema