Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.

OBJECTIVE: Alveolar capillary dysplasia (ACD) is one of the causes of pulmonary hypertension. Its diagnosis is histological but new pathogenetic data have emerged. The aim of this study was to describe a French cohort of patients with ACD to improve the comprehension and the diagnosis of this pathology which is probably underdiagnosed. METHODS: A retrospective observational study was conducted in French hospitals. Patients born between 2005 and 2017, whose biological samples were sent to the French genetic reference centres, were included. Clinical, histological and genetic data were retrospectively collected. RESULTS: We presented a series of 21 patients. The mean of postmenstrual age at birth was 37.6 weeks. The first symptoms appeared on the median of 2.5 hours. Pulmonary hypertension was diagnosed in 20 patients out of 21. Two cases had prolonged survival (3.3 and 14 months). Histological analysis was done on lung tissue from autopsy (57.1% of cases) or from percutaneous biopsy (28.6%). FOXF1 was found abnormal in 15 patients (71.4%): 8 deletions and 7 point mutations. Two deletions were found by chromosomal microarray. CONCLUSION: This study is one of the largest clinically described series in literature. It seems crucial to integrate genetics early into diagnostic support. We propose a diagnostic algorithm for helping medical teams to improve diagnosis of this pathology.

A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti.

Incontinentia pigmenti (IP) is a multisystemic disorder in which pulmonary arterial hypertension (PAH) is a severe and rarely reported association. The prognosis has been poor in reported cases. In our patient, IP was diagnosed during the neonatal period with a combination of cutaneous, ophthalmic, and neurological symptoms. The infant experienced severe collapse with bradycardia during general anesthesia to treat retinal telangiectasia. Echocardiography after resuscitation revealed suprasystemic pulmonary hypertension (PH). Right heart catheterization (RHC) confirmed precapillary PAH not responding to acute vasodilatation test. Lung biopsy was performed to exclude alveolo-capillary dysplasia. Upfront triple therapy with endothelin receptor antagonist, PDE5 inhibitors, and prostacyclin was started. Due to a potential inflammatory mechanism of this acute PAH in the setting of IP, TNF-alpha blockers and steroids were associated. The evolution was favorable with progressive normalization of the pulmonary artery pressure confirmed by RHC after six months. Doses of PAH drugs were tapered down, and finally all PAH treatments could be stopped after 18 months. Subsequent controls including physical exams and echocardiograms did not show signs of PH. This unusual reversible case of pediatric PAH without associated congenital heart disease or portal hypertension highlights the potential reversibility of pediatric PH when an inflammatory mechanism can be suspected. This is the first reported case of non-fatal isolated PAH associated with IP.

Perceptions of overweight in a Caribbean population: the role of health professionals.

BACKGROUND: The prevalence of obesity and its complications is particularly high in the Caribbean. Underestimation of weight status could explain the failure by subjects concerned to adopt behaviours complying with medical recommendations. Little research is available on the role of health professionals in overweight perception. OBJECTIVE: To examine relationships between overweight underestimation and lack of communication on overweight diagnosis by health professionals in a multicultural Caribbean population. METHODS: A cross-sectional study, lead in 2014 on a sample representative of the population of Saint-Martin (395 subjects, 25-74 years). Overweight perception was assessed on Likert scale. Corpulence was assessed from measured waist circumference (WC). Individuals with excess abdominal adiposity (WC ≥ 80cm for women, ≥ 94cm for men) but stating they did not feel overweight were considered to underestimate their weight status. Patient-reported lack of communication on their diagnosis by health professionals was likewise explored. Respondents' first language defined cultural community. Multivariate analysis used logistic regression. RESULTS: Among individuals presenting excessive WC, 4 out of 10 did not perceive themselves as overweight. Six out of 10 said they had never been told about their weight by a health professional, whether or not they had their weight and waist measured by their referring physician in the preceding year. Independently from WC, overweight underestimation was associated with lack of communication on overweight diagnosis for both sexes. For women, overweight underestimation was associated with belonging to the Creole community. CONCLUSION: Greater care is required when giving a diagnosis of overweight, particularly in social-cultural contexts where weight norms differ.