[Ballantyne syndrome associated with fetal cardiac rhabdomyoma: a case report]. / Syndrome de Ballantyne associée à un rhabdomyome cardiaque fœtal: à propos d´un cas.

Ballantyne syndrome or mirror syndrome was first described in 1892. It is a disorder affecting pregnant women describing the association of fetal anasarca complicated by more or less generalized maternal edema and albuminuria (and sometimes anemia). It is a rare clinical entity. Diagnosis is based on a triad consisting of fetal hydrops, generalized maternal edema and placentomegaly. It can be associated with fetal hydrops from any cause. Diagnostic should be suspected in patients with maternal edema syndrome associated with fetal anasarca. Guarded fetal prognosis can be associated with high maternal morbidity; hence the need for early diagnosis, resting on a clear determination of its cause, and aimed to implement antenatal treatment improving maternal and fetal prognosis. We here report a unique case of Ballantyne syndrome which has never been described in the literature. The study involved a 32-year-old female patient with fetal hydrops caused by fetal cardiac rhabdomyoma.

Impact of COVID-19 Lockdown on Short-Term Results After Laparoscopic Sleeve Gastrectomy.

BACKGROUND: The recent COVID-19 pandemic has led several countries worldwide to confine the population. Consequently, people's mobility and physical activity are limited in addition to a negative psychosocial effect. The aim of this study was to assess the impact of COVID-19 crisis on short-term weight loss and the remission of obesity-associated comorbidities in patients undergoing sleeve gastrectomy (SG). METHODS: A case-control study was conducted comparing percentage of total weight loss (%TWL), excess weight lost (%EWL), and the remission rate of obesity-related comorbidities at the first postoperative year between patients who underwent primary SG between June 2019 and October 2019 (1-year postoperative period affected by COVID-19 lockdown; COV-group), and a control group operated between June 2018 and October 2018 (1-year postoperative period not affected by COVID-19 lockdown; CONTROL-group). RESULTS: In total, 45 patients from COV-group were compared to 57 patients from CONTROL-group. Demographic data were similar between groups. The follow-up rate at 1 year was 100%. The mean %TWL and %EWL was lower at 28.2 ± 12.7% and 67.6 ± 23.5% in COV-group patients compared to 34.3 ± 14.1% and 78.3 ± 27.2% in CONTROL-group patients at 1 year from SG (p=0.025 and p=0.036, respectively). The remission rate of obesity-related comorbidities at 1 year from SG including type 2 diabetes mellitus, hypertension, dyslipidemia, and obstructive sleep apnea syndrome was 57.1%, 60.0%, 71.4%, and 41.7% in COV-group and 66.7%, 72.4%, 85.3%, and 52.9% in CONTROL-group, respectively, without any statistically significant difference between groups. CONCLUSIONS: The COVID-19 lockdown had a negative effect on weight loss in the first year after SG. Larger studies are needed to confirm these results, and we are expecting for a longer follow-up to evaluate the long-term impact on weight loss and comorbidities.

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

This study combines a clinical approach and multiple level cellular analyses to determine the physiopathological consequences of the c.1392G>T (p.Lys464Asn) CFTR exon 10 mutation, detected in a CF patient with a frameshift deletion in trans and a TG(11)T(5) in cis. Minigene experiment, with different TG(m)T(n) alleles, and nasal cell mRNA extracts were used to study the impact of c.1392G>T on splicing in both in cellulo and in vivo studies. The processing and localization of p.Lys464Asn protein were evaluated, in cellulo, by western blotting analyses and confocal microscopy. Clinical and channel exploration tests were performed on the patient to determine the exact CF phenotype profile and the CFTR chloride transport activity. c.1392G>T affects exon 10 splicing by inducing its complete deletion and encoding a frameshift transcript. The polymorphism TG(11)T(5) aggravates the effects of this mutation on aberrant splicing. Analysis of mRNA obtained from parental airway epithelial cells confirmed these in cellulo results. At the protein level the p.Lys464Asn protein showed neither maturated form nor membrane localization. Furthermore, the in vivo channel tests confirmed the absence of CFTR activity. Thus, the c.1392G>T mutation alone or in association with the TG repeats and the poly T tract revealed obvious impacts on splicing and CFTR protein processing and functionality. The c.[T(5); 1392G>T] complex allele contributes to the CF phenotype by affecting splicing and inducing a severe misprocessing defect. These results demonstrate that the classical CFTR mutations classification is not sufficient: in vivo and in cellulo studies of a possible complex allele in a patient are required to provide correct CFTR mutation classification, adequate medical counseling, and adapted therapeutic strategies.