∆4-3-oxo-5ß-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.

BACKGROUND: Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3ß-hydroxy-Δ5-C27-steroid oxidoreductase deficiency. The aim of the study was the evaluation of cholic acid therapy in a cohort of patients with the rarer Δ4-3-oxosteroid 5ß-reductase (Δ4-3-oxo-R) deficiency. METHODS: Sixteen patients with Δ4-3-oxo-R deficiency confirmed by AKR1D1 gene sequencing who received oral cholic acid were retrospectively analyzed. RESULTS: First symptoms were reported early in life (median 2 months of age), with 14 and 3 patients having cholestatic jaundice and severe bleeding respectively. Fifteen patients received ursodeoxycholic acid before diagnosis, with partial improvement in 8 patients. Four patients had liver failure at the time of cholic acid initiation. All 16 patients received cholic acid from a median age of 8.1 months (range 3.1-159) and serum liver tests normalized in all within 6-12 months of treatment. After a median cholic acid therapy of 4.5 years (range 1.1-24), all patients were alive with their native liver. Median daily cholic acid dose at last follow-up was 8.3 mg/kg of body weight. All patients, but one, had normal physical examination and all had normal serum liver tests. Fibrosis, evaluated using liver biopsy (n = 4) or liver elastography (n = 9), had stabilized or improved. Cholic acid therapy enabled a 12-fold decrease of 3-oxo-∆4 derivatives in urine. Patients had normal growth and quality of life. The treatment was well tolerated without serious adverse events and signs of hepatotoxicity. CONCLUSIONS: Oral cholic acid therapy is a safe and effective treatment for patients with Δ4-3-oxo-R deficiency.

Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study.

Wilson disease (WD) is a rare copper metabolism disorder caused by mutations in the ATP7B gene. It usually affects young individuals and can produce hepatic and/or neurological involvement, potentially affecting health-related quality of life (HRQoL). We assessed HRQoL in a cohort of Spanish patients with WD and evaluated disease impact on several domains of patients' lives, treatment adherence, drug preference and satisfaction, and healthcare resource utilisation in a cross-sectional, retrospective, multicentric, observational study. A total of 102 patients were included: 81.4% presented isolated liver involvement (group H) and 18.6% presented neurological or mixed involvement (group EH). Up to 30% of patients reported a deteriorated emotional status with anxiety and depression, which was greater in the EH subgroup; the use of neuropsychiatric drugs was high. Over 70% of the patients were satisfied with their current treatment but complained about taking too many pills, stating they would consider switching to another more patient-friendly treatment if available. The Simplified Medication Adherence Questionnaire revealed only 22.5% of patients were fully adherent to therapy, suggesting that alternative therapies are needed. This real-world study, even though is highly enriched with hepatic patients and mild disease, shows that WD impacts patients' HRQoL, especially in the emotional domain.

Post-Pandemic Feeding Patterns and Mediterranean Diet Adherence in Spanish Toddlers.

During the last decade, feeding patterns, more specifically those of children, have worsened-affecting dietary habits and Mediterranean diet adherence. Here, we examine the post-pandemic feeding habits of Spanish toddlers. A total of 2465 parents of children aged between 12 and 36 months completed an online 25-item multiple-choice survey asking about dietary habits and Mediterranean diet adherence. Only 34 children (1.38%) had an adequate intake of all of the food groups included in the questionnaire. Adherence worsened as toddlers grew (p < 0.0001). Further, lower compliance was found in children with a higher intake of fast food (p < 0.001), those with siblings (p = 0.0045), and children who were the second or third child (p = 0.0005). The food group with the most commonly reported adequate intake was fish (88% of children), followed by pulses (80%), water (79%), and meat (78%). Cow's milk was the most commonly consumed dairy product among all age groups analyzed. Half of the children exhibited a low consumption of milk and dairy products. These results showed that a lack of adherence to a balanced diet is common among Spanish toddlers in the post-pandemic period and that greater parent education could improve the nutrition of toddlers.

Duodenitis, la gran desconocida / Duodenitis, the great unknown

Debido a la relación que mantiene el duodeno con el resto de los órganos vecinos, el abordaje de la duodenitis implica realizar un amplio diagnóstico diferencial. Las patologías de este sector del intestino delgado son muy diversas e incluyen procesos congénitos, inflamatorios, traumáticos y neoplásicos. En el presente caso, comentamos una duodenitis erosiva secundaria a una infección por H. pylori (AU)

Due to the relationship of the duodenum with all other adjacent organs, the approach to duodenitis requires a broad differential diagnosis. Diseases in this part of the small intestine are diverse and include congenital, inflammatory, traumatic and malignant processes. Here, we discuss a case of erosive duodenitis secondary to Helicobacter pylori infection. (AU)

Effects of public health measures during the SARS-CoV-2 pandemic on the winter respiratory syncytial virus epidemic: An interrupted time series analysis.

BACKGROUND: Public health measures (PHM) designed to contain the spread of COVID-19 pandemic have influenced the epidemiological characteristics of other viral infections. Its impact on acute RSV bronchiolitis in infants of ≤24 months old has not been systematically studied in our setting. OBJECTIVES: To describe the monthly pattern of visits to the Paediatric Emergency Department (PED) of patients 0 to 14 years of age, the rate of patients diagnosed with RSV acute bronchiolitis per thousand inhabitants of 0 to 24 months, and the rate of them requiring hospital admission during the winter 2020-2021, in the context of local and national COVID-19 restrictions and compare them to the four previous seasons. METHODS: Interrupted time series analysis of patients assisted in the PED and diagnosed with or admitted for RSV acute bronchiolitis in a tertiary University Hospital from January 2016 to February 2020 (pre-intervention period) and from March 2020 to June 2021 (post-intervention period). INTERVENTION: Preventive PHM implemented by the Spanish government weighted by the Containment and Health Index of the Oxford COVID-19 Government Response Tracker. RESULTS: The intervention was followed by an immediate reduction of the rate of visits to the PED of -19.5 (95% confidence interval [CI] -24.0, -14.9) per thousand, and the rate of diagnoses and admissions for RSV acute bronchiolitis of -44.3 (95% CI -73.8, -14.8) and -1.4 (95% CI -2.7, -0.1) per thousand, respectively, with a delayed rebound. CONCLUSIONS: After the implementation of PHM to prevent the spread of SARS-CoV-2 infection, an immediate and important decline in the visits to the PED was observed, with an upward change thereafter. There was also an initial reduction in the diagnoses of and admissions by RSV acute bronchiolitis. An upward trend was observed six to nine months after the usual time of the winter RSV epidemic, coinciding with the relaxation of the preventive PHM.

Adherence to Mediterranean diet is not associated with birthweight - Results form a sample of Canarian pregnant women / La adherencia a la dieta mediterránea no se asocia al peso al nacer: resultados de una muestra de mujeres canarias embarazadas

Background: the prevalence of overweight and obesity showed and increasing trend over the past few years. The burden of this epidemic represents a public health issue worldwide. Spain, and especially the Canary Islands, are not exempt. Pregnancy is a situation of weight gain, and the amount of such increase during gestation can affect the health status of both the mother and her baby. Thus, an optimal dietary style becomes of importance. Aim: given the benefits of the Mediterranean diet (MD) on various health outcomes, we aimed to study the adherence to this dietary pattern in a sample of Canarian pregnant women, and to investigate its association with their newborn's weight. Methods: adherence to MD as well as clinical history and anthropometrics were assessed in a sample of pregnant women followed at a Canarian hospital. Similarly, their newborn characteristics were studied. Results: our findings showed an overall low adherence to MD, with no association between this trend and birthweight. Conclusions: in conclusion, specific tools should be tailored to the target population to assess adherence to MD, and further efforts should be made to promote a healthy eating pattern and lifestyle among the pregnant population

Introducción: la prevalencia del sobrepeso y la obesidad presentó una tendencia al alza en los últimos años. La carga de esta epidemia supone un problema de salud pública en todo el mundo. España, y especialmente las Islas Canarias, no es una excepción. El embarazo es una situación en la que se gana peso y la cantidad de peso que se gana durante la gestación puede afectar al estado de salud tanto de la madre como del niño. Por tanto, adquiere importancia seguir un tipo de dieta óptimo. Objetivo: dados los beneficios de la dieta mediterránea (DM) sobre varios resultados de salud, nos propusimos estudiar la adherencia a este patrón dietético en una muestra de embarazadas canarias e investigar su asociación con el peso neonatal. Métodos: la adherencia a la DM, al igual que la historia clínica y la antropometría, se evaluó en una muestra de mujeres embarazadas seguidas en un hospital canario. También se estudiaron las características de los neonatos. Resultados: nuestros hallazgos mostraron una adherencia general baja a la DM, sin ninguna asociación entre esta tendencia y el peso al nacer. Conclusiones: en conclusión, se deben adaptar a la población objeto de este estudio herramientas específicas que sirvan para evaluar la adherencia a la DM, y se deben realizar nuevos esfuerzos para fomentar un patrón alimenticio y un estilo de vida saludables entre la población gestante

Adherence to Mediterranean diet is not associated with birthweight - Results form a sample of Canarian pregnant women.

INTRODUCTION: Background: the prevalence of overweight and obesity showed and increasing trend over the past few years. The burden of this epidemic represents a public health issue worldwide. Spain, and especially the Canary Islands, are not exempt. Pregnancy is a situation of weight gain, and the amount of such increase during gestation can affect the health status of both the mother and her baby. Thus, an optimal dietary style becomes of importance. Aim: given the benefits of the Mediterranean diet (MD) on various health outcomes, we aimed to study the adherence to this dietary pattern in a sample of Canarian pregnant women, and to investigate its association with their newborn's weight. Methods: adherence to MD as well as clinical history and anthropometrics were assessed in a sample of pregnant women followed at a Canarian hospital. Similarly, their newborn characteristics were studied. Results: our findings showed an overall low adherence to MD, with no association between this trend and birthweight. Conclusions: in conclusion, specific tools should be tailored to the target population to assess adherence to MD, and further efforts should be made to promote a healthy eating pattern and lifestyle among the pregnant population.

INTRODUCCIÓN: Introducción: la prevalencia del sobrepeso y la obesidad presentó una tendencia al alza en los últimos años. La carga de esta epidemia supone un problema de salud pública en todo el mundo. España, y especialmente las Islas Canarias, no es una excepción. El embarazo es una situación en la que se gana peso y la cantidad de peso que se gana durante la gestación puede afectar al estado de salud tanto de la madre como del niño. Por tanto, adquiere importancia seguir un tipo de dieta óptimo. Objetivo: dados los beneficios de la dieta mediterránea (DM) sobre varios resultados de salud, nos propusimos estudiar la adherencia a este patrón dietético en una muestra de embarazadas canarias e investigar su asociación con el peso neonatal. Métodos: la adherencia a la DM, al igual que la historia clínica y la antropometría, se evaluó en una muestra de mujeres embarazadas seguidas en un hospital canario. También se estudiaron las características de los neonatos. Resultados: nuestros hallazgos mostraron una adherencia general baja a la DM, sin ninguna asociación entre esta tendencia y el peso al nacer. Conclusiones: en conclusión, se deben adaptar a la población objeto de este estudio herramientas específicas que sirvan para evaluar la adherencia a la DM, y se deben realizar nuevos esfuerzos para fomentar un patrón alimenticio y un estilo de vida saludables entre la población gestante.