Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population.

Objectives: The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2-TNXB and their respective pseudogenes (CYP21A1P-TNXA). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers-Danlos syndrome (EDS). Since SCAH-X has been recently described, the number of publications available is limited. The objective of this study was to set up a molecular approach and a screening algorithm for detecting CAH-X chimeras, determine their frequency and distribution in the Spanish population, and assess their clinical pattern of occurrence in a group of patients. Methods: A total of 186 patients were eligible for CAH-X molecular genetic testing. Testing included MLPA, heterodimer detection by capillary gel electrophoresis, and sequencing of exons 40, 41, and 43 of TNXB. A review was performed of the medical history of 20 patients from three hospitals of reference and the signs and symptoms of EDS they exhibited. Results: In total, 78 CAH patients were carriers of CAH-X chimeras (41.9 %). Forty-six patients were carriers of CH1 (24.7 %), 24 of CH2 (12.9 %), and 8 of CH3 (4.3 %), with a heterogeneous geographical distribution. Seven (35 %) of the 20 carriers of a CAH-X chimera who underwent clinical examination experienced clinical manifestations of EDS. Conclusions: The impact of SCAH-X in the Spanish population was assessed by genetic testing. In the light of the clinical pattern of occurrence and significant prevalence of SCAH-X in the Spanish population, early diagnosis of this entity is essential for an appropriate follow-up of clinical manifestations.

Tuberculosis mamaria. Reporte de dos casos / Breast tuberculosis. Report of two cases

Resumen Se presentan los casos de dos pacientes con tu berculosis (TB) mamaria, una de ellas también con compromiso pleural y ganglionar. Ambas HIV nega tivas, sin antecedentes de TB previa, con lesiones mamarias de largo tiempo de evolución. Las dos pre sentaron buena evolución con tratamiento antifímico. La TB mamaria es una afección muy poco frecuente de difícil diagnóstico. Se presentan los casos con el fin de plantear su diagnóstico diferencial en pa cientes con mastitis crónicas y/o lesiones nodulares o ulceradas de la mama. Se recomienda el manejo multidisciplinario.

Abstract Two cases of mammary tuberculosis (TB) are present ed, one of them with additional pleural and lymph node involvement. Both were HIV-negative, with no history of previous TB, with long-standing breast lesions. Both presented a successful outcome with antituberculosis treatment. Breast TB is a very rare pathology that is dif ficult to diagnose. The cases are presented to consider their differential diagnosis in patients with chronic mas titis and/or nodular or ulcerated lesions of the breast. Multidisciplinary management is recommended.

Evaluación del impacto de la pandemia de COVID-19 en el seguimiento y tratamiento de gestantes con sífilis y sus parejas: análisis comparativo con un período prepandémico / Evaluation of the impact of the COVID-19 pandemic onthe follow-up and treatment of pregnant women with syphilis and their partners: comparative analysis with a pre-pandemic period

Se realizó un estudio observacional descriptivo transver-sal retrospectivo de las gestantes con nuevo diagnóstico de sífilis atendidas en el Hospital Materno Infantil de San Isidro "Dr. Carlos Gianantonio" durante los años pandé-micos 2020-2021. Se asistieron 108 gestantes con sífilis: 69 en 2020 y 39 en 2021. El tratamiento de aquellas que finalizaron el embarazo al momento de realizar este estu-dio (n=95) fue adecuado en el 78% (74) de los casos, en el 16,8% (16) fue inadecuado y el 5,2 % (5) perdió el segui-miento. El 11% presentó reinfección durante el embarazo. Con respecto a las parejas (n=103), el 84,6% (88) tenía una relación estable; se testeó al 70% (73) de las parejas, de las cuales el 45% (33) tenía VDRL positiva y se trató al 88% (29). Los resultados del estudio no muestran diferencias significativas en los indicadores evaluados (tratamiento adecuado y reinfección de la gestante y testeo/tratamien-to de la pareja) al comparar los períodos prepandémico (2018-2019) vs. pandémico (2020-2021)

A retrospective cross-sectional descriptive observational study of pregnant women with a new diagnosis of syphilis treated at the San Isidro Maternity Hospital during the 2020-2021 pandemic years was carried out. 108 pregnant women with syphilis were assisted: 69 in 2020 and 39 in 2021. The treatment of those who ended their pregnancy at the time of this study (n=95) was adequate in 78% (74) of the cases, 16,8% (16) were inadequate and 5.2% (5) lost follow-up. 11% presented reinfection during pregnancy. Regarding the couples (n=103), 84.6% (88) had a stable relationship, 70% (73) of the couples were tested, of which 45% (33) had positive vdrl and were treated 88% (29). The results of the study do not show significant differences in the indicators evaluated (adequate treatment and reinfection of the pregnant woman and testing/treatment of the partner) when comparing the pre-pandemic (2018-2019) vs. pandemic (2020-2021) periods

[Breast tuberculosis. Report of two cases]. / Tuberculosis mamaria. Reporte de dos casos.

Two cases of mammary tuberculosis (TB) are presented, one of them with additional pleural and lymph node involvement. Both were HIV-negative, with no history of previous TB, with long-standing breast lesions. Both presented a successful outcome with antituberculosis treatment. Breast TB is a very rare pathology that is difficult to diagnose. The cases are presented to consider their differential diagnosis in patients with chronic mastitis and/or nodular or ulcerated lesions of the breast. Multidisciplinary management is recommended.

Se presentan los casos de dos pacientes con tuberculosis (TB) mamaria, una de ellas también con compromiso pleural y ganglionar. Ambas HIV negativas, sin antecedentes de TB previa, con lesiones mamarias de largo tiempo de evolución. Las dos presentaron buena evolución con tratamiento antifímico. La TB mamaria es una afección muy poco frecuente de difícil diagnóstico. Se presentan los casos con el fin de plantear su diagnóstico diferencial en pacientes con mastitis crónicas y/o lesiones nodulares o ulceradas de la mama. Se recomienda el manejo multidisciplinario.

Biochemical analysis in congenital neuroblastoma.

Objectives: The incidence of congenital neuroblastoma has increased in the recent years. The purpose of this study was to describe the clinical and biochemical characteristics of cases of congenital neuroblastoma diagnosed in our center. Case presentation: We report three cases of congenital neuroblastoma diagnosed in our hospital. In two, diagnosis was made prenatally, whereas the other case was detected in the immediate neonatal period. In the three cases, neuroblastoma was located in the abdominal region and exhibited elevated concentrations of catecholamines or their metabolites in single voided urine samples. Two tumors were classified as stage M, and one as stage L2. The N-MYC oncogen was not amplified in any of the cases studied. Histopathological analysis was favorable in the three cases. The tumor was resected in two patients. The three received chemotherapy. Conclusions: The measurement of catecholamines and their metabolites is essential in the diagnosis of neuroblastoma. When 24 h urine cannot be collected, single voided urine can be used to calculate the index based on creatinine concentrations.

[Cohort of pregnant and postpartum women with COVID-19. Comparative analysis between two pandemic waves]. / Cohorte de gestantes y puérperas con COVID-19. Análisis comparativo entre dos olas pandémicas.

INTRODUCTION: The clinical presentation of pregnant women with COVID-19 varied according to the time of the pandemic. OBJECTIVE: The clinic, complications and lethality were described, as well as a comparative analysis of the clinical presentation during the first two pandemic waves of pregnant and postpartum women with COVID-19. METHODS: An observational prospective cohort study of pregnant women assisted in the Municipal Maternity of San Isidro was carried out between 04/01/2020 and 07/31/21. RESULTS: The infection was confirmed in 103 pregnant women, 76.7% had a mild condition, 18.4% moderate and 4.8% severe. 59% were assisted by telemedicine, 41% were admitted and 2.9% required mechanical ventilation. Most had a good evolution and the case fatality rate was < 1% (n = 1). At the time of this analysis, 78% of the women had completed pregnancy. 41% of them presented some type of complication, the most frequent being: premature rupture of the membrane 42%, arterial hypertension and other associated pathologies (including a patient with preeclampsia) 27% and preterm delivery 18%. In the comparative analysis between the first two pandemic waves, there was a higher proportion of moderate/severe cases (p = 0.016) and the indication for mechanical ventilation was significantly higher (p = 0.048) in 2021. DISCUSSION: These findings support the need for prioritize this group of patients to implement preventive strategies.

Introducción: La presentación clínica de las gestantes con COVID-19 fue variando según el momento de la pandemia. Objetivo: Se describió la clínica, complicaciones y letalidad, así como un análisis comparativo de la presentación clínica durante las dos primeras olas pandémicas de las gestantes y puérperas con COVID-19. Métodos: Se realizó un estudio de cohorte prospectivo observacional de las gestantes asistidas en la Maternidad Municipal de San Isidro entre el 01/04/2020 al 31/07/21. Resultados: Se confirmó la infección de 103 gestantes, de las cuales el 76.7% cursó un cuadro leve, 18.4% moderado y 4.8% grave. El 59% fueron asistidas por telemedicina, el 41% se internó, de las cuales el 2.9% requirieron asistencia respiratoria mecánica (ARM). La mayoría tuvo buena evolución y la tasa de letalidad fue < 1% (n = 1). Al momento del presente análisis el 78% de las mujeres habían finalizado la gestación. El 41% de ellas, presentó algún tipo de complicación, siendo lo más frecuente: ruptura prematura de membrana 42%, hipertensión arterial y otras patologías asociadas (incluyendo una paciente con preeclampsia) el 27% y parto pretérmino el 18%. En el análisis comparativo entre las dos primeras olas pandémicas, hubo una mayor proporción de casos moderados/graves (p=0.016) y fue significativamente mayor la indicación de ARM (p=0.048) en el 2021. Discusión: Estos hallazgos avalan la necesidad de priorizar a este grupo de pacientes para implementar estrategias preventivas.

Cohorte de gestantes y puérperas con COVID-19. Análisis comparativo entre dos olas pandémicas / Cohort of pregnant and postpartum women with COVID-19. Comparative analysis between two pandemic waves

Resumen Introducción: La presentación clínica de las gestantes con COVID-19 fue variando según el momento de la pandemia. Objetivo: Se describió la clínica, complicaciones y letalidad, así como un análisis comparativo de la presentación clínica durante las dos primeras olas pandémicas de las gestantes y puérperas con COVID-19. Métodos: Se realizó un estudio de cohorte prospectivo observacional de las gestantes asistidas en la Maternidad Municipal de San Isidro entre el 01/04/2020 al 31/07/21. Resultados: Se confirmó la infección de 103 gestantes, de las cuales el 76.7% cursó un cuadro leve, 18.4% moderado y 4.8% grave. El 59% fueron asistidas por telemedicina, el 41% se internó, de las cuales el 2.9% requirieron asistencia respira toria mecánica (ARM). La mayoría tuvo buena evolución y la tasa de letalidad fue <1% (n = 1). Al momento del presente análisis el 78% de las mujeres habían finalizado la gestación. El 41% de ellas, presentó algún tipo de complicación, siendo lo más frecuente: ruptura prematura de membrana 42%, hipertensión arterial y otras pato logías asociadas (incluyendo una paciente con preeclampsia) el 27% y parto pretérmino el 18%. En el análisis comparativo entre las dos primeras olas pandémicas, hubo una mayor proporción de casos moderados/graves (p=0.016) y fue significativamente mayor la indicación de ARM (p=0.048) en el 2021. Discusión: Estos hallazgos avalan la necesidad de priorizar a este grupo de pacientes para implementar estrategias preventivas.

Abstract Introduction: The clinical presentation of pregnant women with COVID-19 varied according to the time of the pandemic. Objective: The clinic, complications and lethality were described, as well as a comparative analy sis of the clinical presentation during the first two pandemic waves of pregnant and postpartum women with COVID-19. Methods: An observational prospective cohort study of pregnant women assisted in the Municipal Maternity of San Isidro was carried out between 04/01/2020 and 07/31/21. Results: The infection was confirmed in 103 pregnant women, 76.7% had a mild condition, 18.4% moderate and 4.8% severe. 59% were assisted by telemedicine, 41% were admitted and 2.9% required mechanical ventilation. Most had a good evolution and the case fatality rate was < 1% (n = 1). At the time of this analysis, 78% of the women had completed pregnancy. 41% of them presented some type of complication, the most frequent being: premature rupture of the membrane 42%, arterial hypertension and other associated pathologies (including a patient with preeclampsia) 27% and preterm delivery 18%. In the comparative analysis between the first two pandemic waves, there was a higher proportion of moderate/severe cases (p = 0.016) and the indication for mechanical ventilation was significantly higher (p = 0.048) in 2021. Discussion: These findings support the need for prioritize this group of patients to implement preventive strategies

Omicron Breakthrough Infection After Heterologous Prime-Boost Vaccination Induces a Vigorous Antibody Response.

Infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variant is usually asymptomatic or mild and appears to be poorly immunogenic at least in unvaccinated individuals. Here, we found that health care workers vaccinated with 2 doses of Sputnik V and a booster dose of ChAdOx1 mount a vigorous neutralizing-antibody response after Omicron breakthrough infection.

[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.] / Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid.

OBJECTIVE: Tandem mass spectrometry (MS/MS) is being used for newborn screening since this laboratory testing technology increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In the Community of Madrid, it was implemented in March 2011 and it includes 13 aminoacidopathies, fatty acid oxidation disorders and organic acidemias. The aim of this study was to describe our experience and evaluate the screening positive cases in a period of 9 years (2011-2019). METHODS: During the period of the study, a total of 592.822 neonates were screened with this expanded program by MS/MS in the Community of Madrid. Amino acids, acylcarnitines, and succinylacetone were quantified in all samples that met the quality criteria. Means, medians, percentiles and standard deviation of the analytes and ratios of interest were calculated. RESULTS: 901 patients (0,15 %) with a positive screening test were referred to clinical evaluation. 230 patients were diagnosed of 30 different inborn errors of metabolism (prevalence 1:2577), 11 of which were not included as a target in the Community of Madrid newborn screening program. The global positive predictive value was 25,6 %. During this period of time, two false negative cases were detected. The most prevalent disorders were phenylketonuria/hyperphenylalaninemia and medium chain acyl-CoA dehydrogenase deficiency (1:6444 and 1:13174 respectively). 93 % of the patients were detected in the presymptomatic stage. CONCLUSIONS: During the last 9 years a large number of cases of IEM have been detected with an acceptable global positive predictive value. These results confirm the utility of inborn errors of metabolism newborn screening as a public health program.

OBJETIVO: La tecnología de espectrometría de masas en tándem (MS/MS) en los programas de cribado neonatal ha permitido la detección de gran número de errores congénitos del metabolismo (ECM). En la comunidad de Madrid se implementó en marzo de 2011 incluyendo 13 aminoacidopatías, defectos de la ß-oxidación de ácidos grasos y acidemias orgánicas. El objetivo de este estudio fue describir nuestra experiencia y analizar los casos positivos de cribado en un periodo de 9 años (2011-2019). METODOS: Durante el periodo de estudio se realizó el cribado mediante MS/MS a 592822 recién nacidos en la Comunidad de Madrid. Se cuantificaron aminoácidos, acilcarnitinas y succinilacetona en todas las muestras que cumplieron los criterios de calidad. Se calcularon medias, medianas, percentiles y desviación típica de los analitos y ratios de interés. RESULTADOS: Se derivaron a las unidades clínicas de seguimiento por sospecha de una ECM un total de 901 (0,15 %) casos. Se confirmaron 230 casos de 30 ECM diferentes (prevalencia 1:2577), 11 de los cuales no eran inicialmente objetivo de detección del programa. El valor predictivo positivo global fue de 25,6 %. Durante este periodo se detectaron dos falsos negativos. Las enfermedades con mayor prevalencia fueron fenilcetonuria/hiperfenilalaninemia y deficiencia de acil-CoA deshidrogenasa de cadena media (1:6444 y 1: 13174 respectivamente). 93 % de los casos fueron detectados en fase presintomática. CONCLUSIONES: En estos 9 años de experiencia se han detectado numerosos casos de ECM con un valor predictivo positivo global aceptable. Estos resultados confirman la utilidad del cribado neonatal de ECM como programa de salud pública.

Healthcare personnel infected with novel influenza A H1N1 virus in university hospitals in Buenos Aires, Argentina.

Data on the clinical presentation, risk factors, and outcomes for healthcare personnel (HCP) infected with influenza A H1N1 virus (H1N1) are limited. From June to July 2009, a prospective study was conducted among HCP with influenza-like illness (ILI) at university hospitals in Buenos Aires. A reverse transcription polymerase chain reaction (RT-PCR) was used to diagnose H1N1. A logistic regression model was developed to identify factors associated with H1N1. Among 1519 HCP, 96 (6.3%) were diagnosed with an ILI. Of these, 85 (88.5%) were swabbed for H1N1 detection, with 43 positive cases (2.8%). Seasonal influenza immunization was recorded in 76%. Comparison of H1N1-positive vs. H1N1-negative cases showed that H1N1-positive cases more frequently had asthenia (72% vs. 48%, p = 0.03) and cough (79% vs. 43%, p = 0.008) and less frequently had diarrhoea (9% vs. 29%, p = 0.03) and prior prophylaxis with oseltamivir (5% vs. 31%, p = 0.002). The logistic regression model showed that presence of cough (odds ratio (OR) 6.93, 95% confidence interval (CI) 2.24, 21.4) was associated with an increased risk of H1N1. Prior prophylaxis with oseltamivir (OR 0.08, 95% CI 0.01, 0.43) was associated with a lower probability of H1N1 infection. A high proportion of HCP with an ILI were infected with H1N1. Complication rates were relatively low. Prior prophylaxis with oseltamivir was associated with a lower risk of developing H1N1.