Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review.

The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to explore recent findings regarding cognitive outcomes in SMA patients, including correlations between clinical features and cognitive abilities. The investigation seeks to identify commonly used measures for assessing cognitive function in this patient population. A scoping review following the Joanna Briggs Institute methodology examined literature until December 2023. Two databases were searched along with relevant article references using specific terms such as "spinal muscular atrophy," "SMA," "cognitive," "abilities," "functions," "intellective," or "intellectual." Screening focused on titles and abstracts from English language peer-reviewed journals. After the initial research, 1452 articles were identified. Subsequent screening and selection led to the inclusion of 13 articles in the review. Among these studies, four indicated a cognitive trend within the normal range for SMA patients. In four other studies, the majority of patients fell within the normal range. However, smaller proportions were observed to be either above or below the norm compared to the controls. Three studies reported noted cognitive performance below the average, while two showed above-average scores. The scoping review suggests that most SMA patients have cognitive abilities similar to the general population, with types II and III showing even lesser impact. However, certain cognitive domains may be affected in type I patients, highlighting the need for further research to fully understand cognitive involvement in SMA.

Antenatal toxoplasmosis screening and treatment in Northern Italy: update on the clinical effectiveness.

BACKGROUND: Antenatal universal screening for toxoplasmosis is recommended in most affluent countries worldwide. Despite evidence is not robust, detected cases are typically treated during pregnancy. Affected newborns are also treated to temper clinical consequences. However, this established mode of management warrants careful and continuous re-evaluation. The epidemiology of the infection is changing and there is the need to monitor the clinical scenario. METHODS: This is an observational retrospective study conducted at a referral hospital in Northern Italy. Every woman referred from January 2011 to December 2021 for suspected toxoplasmosis in pregnancy was eligible. All women were managed according to a local standardized protocol. Clinical and laboratory findings were obtained from patients' charts. RESULTS: Out of 347 women referred, 191 (55%) were discharged as false positive at initial assessment. We identified 141 women with suspected infection and 15 with confirmed infection. The number of women treated with antibiotics was 136 (96%) and 15 (100%), respectively. A total of 118 amniocenteses were performed, all of which were negative. There were two spontaneous miscarriages and five therapeutic terminations of pregnancy (of whom four were consequent to parental concerns related to the toxoplasmic infection), all among suspected cases. Vertical transmission occurred in a single case, a patient with confirmed infection diagnosed by seroconversion at 28 weeks' gestation. The course of this pregnancy was uneventful, and the infant is healthy at 7 years follow-up. Overall, the incidence of vertical transmission was 7% (95% CI: 1-30%) in confirmed cases and 0% (95% CI: 0-0.2%) in suspected cases. CONCLUSIONS: The current policy of universal screening and prompt management of toxoplasmosis infection is efficient. However, undue invasive procedures and terminations of pregnancy could occur. Future studies are warranted to improve clinical management.

Rehabilitación cardiaca en pacientes Chagásicos con insuficiencia cardiaca / Chagasic cardiac rehabilitation in patients with heart failure

Introducción: La capacidad funcional de los pacientes Chagásicos con insuficiencia cardíaca crónica suele deteriorarse en forma significativa y progresiva. Los programas de rehabilitación cardiovascular, RHCV, han demostrado amplios beneficios en pacientes con otras cardiopatías y múltiples facotres de riesgo. Objetivo: Evaluar la mejoría de la capacidad funcional en pacientes portadores de Insuficiencia Cardíaca de etiología Chagásica, con un protocolo de RHCV durante un año. Material y métodos: Se incluyeron pacientes en clase funcional II de la NYHA. A todos los pacientes sé los evaluó con la prueba de caminata de 6 minutos, consumo de oxígeno máximo, VO2 max, en ml/kg/min, capacidad funcional, en equivalentes metabólicos, METS, escala de percepción de esfuerzo de Borg, índice de eficiencia miocárdica, IEM, y la fracción de eyección, FE. Estos parámetros se valoraron cada 3 meses y se comparó cada paciente contra sí mismo al cabo de un año. Resultados: Ingresaron 42 pacientes, 17 varones de 41 a 56 años, promedio 54; y 25 mujeres de 45 a 57 años, promedio de 51, en clase funcional II, cuya prueba de caminata de 6 minutos fue de 375 metros, V02 max 15-18, 4.28-5.14 METS, escala de Borg 4-5, IEM 0.82 y FE igual 0.35. Al finalizar el año, 30 pacientes completaron el programa de RHCV: pasaron de clase funcional I, prueba de caminata de 6 min mayor 375 metros, V02 max 20-25, 6-7 METS, escala de Borg 5-7, IEM 1,17 y FE igual 0.45. Conclusiones: La aplicación de un programa de rehabilitación en pacientes Chagásicos con insuficiencia cardiaca en clase funcional II, se tradujo en una mejoría de la capacidad funcional, evaluada por distintos índices. La realización del entrenamiento físico programado, en estos enfermos demostró resultados satisfactorios, con una adherencia importante al tratamiento.