Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. While biallelic variants affecting IFT140 are responsible for Mainzer-Saldino syndrome (characterized by severe ciliopathy causing skeletal abnormalities, kidney disease, and cysts), monoallelic loss-of-function (LoF) variants have been recently reported as an important cause of ADPKD beyond PKD1/2 genes. Herein, we report 6 non-family-related cases of monoallelic IFT140 LoF variants, identified from 1,340 exomes sequenced for nephrological indications in our local database. Every patient presented with polycystic kidney disease. Furthermore, the mother of a boy diagnosed with Mainzer-Saldino syndrome with a biallelic variant affecting IFT140 presented with several bilateral cysts, revealed after kidney imaging, and was found to carry a pathologic frameshift IFT140 variation. As well as this particular Mainzer-Saldino case, our 6 additional patients confirm that heterozygous IFT140 frameshift variants are responsible for the cystic phenotype and kidney failure. Interestingly, of the 6 patients, 2 also exhibited dilated cardiomyopathy, which was of unknown origin, as no genetic cause was found after exome sequencing analysis, suggesting a potential connection between IFT140 and heart disease.

Effectiveness of Saccharomyces Boulardii CNCM I-745 probiotic in acute inflammatory viral diarrhoea in adults: results from a single-centre randomized trial.

BACKGROUND: Probiotics are effective for treating acute infectious diarrhoea caused by bacteria, but there are inconsistent results for the effectiveness of probiotics for diarrhoea caused by viruses. In this article we want to determine whether Sb supplementation has an effect on acute inflammatory viral diarrhoea diagnosed with the multiplex panel PCR test. The aim of this study was to evaluate the efficacy of Saccharomyces boulardii (Sb) as a treatment in patients diagnosed with viral acute diarrhoea. METHODS: From February 2021 to December 2021, 46 patients with a confirmed diagnosis of viral acute diarrhoea diagnosed with the polymerase chain reaction multiplex assay were enrolled in a double-blind, randomized placebo-controlled trial. Patients received paracetamol 500 mg as a standard analgesic and 200 mg of Trimebutine as an antispasmodic treatment plus 600 mg of Sb (n = 23, 1 × 109/100 mL Colony forming unit) or a placebo (n = 23) orally once daily for eight days. The improvement in and severity of symptoms were measured using a symptom diary, the Patient Global Impression and the Patient Global Impression of Change scales (days 4 and 8), both answered and recorded by the patient. RESULTS: Of the 46 patients who completed treatment, 24 (52%) were men and 22 (48%) were women. The average age was 35.6 ± 12.28 years (range 18 to 61 years). The average duration of the evolution of illness at the time of diagnosis was 0.85 ± 0.73 days (maximum 2 days). On day 4 after the diagnosis, 20% reported pain and 2% reported fever, but on day 8, no patient reported pain or fever. On day 4, 70% of patients in the Sb group and 26% in the placebo group reported improvement (P = 0.03), based on the Patients' Global Impression of Change scale, which assesses patient's rating of overall improvement. These findings suggest that 3 to 4 days of treatment with Sb helped to improve symptoms of diarrhoea caused by a virus. CONCLUSION: Treatment with Sb on acute inflammatory diarrhoea of viral aetiology shows no changes regarding the severity of the symptoms; nevertheless, it seems to impact improvement positively. TRIAL REGISTRATION: 22CEI00320171130 dated on 16/12/2020, NCT05226052 dated on 07/02/2022.

Prevalence of Depression, Anxiety, and Stress among High School Students during the COVID-19 Pandemic: A Survey Study in Western Mexico.

Social isolation and school closure may predispose adolescents to higher prevalence rates of depression, anxiety, and stress. In this cross-sectional observational study, the validated Spanish version of the Depression, Anxiety, and Stress Scale was administered to 3112 students aged 14-22 years old. We also collected data on participant gender, age group, school shift (morning or afternoon), school year, family type, whether they or any first-degree relative had been infected with COVID-19, whether any family member had died of COVID-19, and whether either of their parents worked. Mean scores were 8.34 ± 6.33 for depression, 7.75 ± 5.89 for anxiety, and 10.26 ± 5.84 for stress. Female students presented significantly higher scores on all three measures compared with male students. Students who had been infected with COVID-19, who had an infected family member, or who had a family member who died of COVID-19 also presented higher scores on all three measures. Identifying the symptoms and warning signs of depression and anxiety disorders is critical, particularly in vulnerable populations like adolescents.