Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

Marfanoid habitus and intellectual disability (MHID) co-occur in multiple neurodevelopmental disorders (NDD). Among those, Lujan-Fryns, an X-linked genetic disorder associated with variants in MED12 was the first such syndrome identified. Accurate molecular diagnosis for these MHID syndromes remains a challenge due to significant clinical and genetic heterogeneity. We present a case report of a 20-year-old male patient with MHID and severe social anxiety. A comprehensive clinical evaluation, including morphotype assessment, cognitive, and psychometric and genetic testing, was conducted to provide a detailed understanding of the patient's complex clinical presentation. Psychometric assessments revealed severe social anxiety and various cognitive and emotional challenges. Despite some autism-like symptoms, the patient's clinical presentation was more aligned with mild intellectual disability. Exome sequencing was inconclusive but identified a heterozygous de novo missense variant in the PCDHGA5 gene. This gene is not known in human pathology yet, but we also report a second patient with a syndromic neurodevelopmental disorder and a rare de novo variant which leads us to propose this as a candidate gene. Our findings emphasize the importance of multidisciplinary approach in the diagnosis and management of MHID. This case report underscores the need for objective clinical evaluations and standardized tools to better understand the complex clinical profiles of patients with NDDs. The identification of novel PCDHGA5 gene variants adds this gene's candidacy to the genetic landscape of MHID-NDD, warranting further investigation to determine its potential contribution.

One-year care pathway after acute myocardial infarction in 2018: Prescription, medical care and medication adherence, using a French health insurance reimbursement database.

BACKGROUND: Myocardial infarction is a major cause of morbidity and mortality. Guidelines have been published to optimize medical care and involve optimization of the care pathway and hospital-city coordination. AIMS: To describe the myocardial infarction care pathway during the year following hospital discharge, and the use of and adherence to secondary prevention drugs. METHODS: A cohort study was conducted using data from the main French health insurance reimbursement database of the ex-Aquitaine region. Information about the medical and pharmaceutical care of hospitalized patients in 2018 was collected for 12 months. Medication adherence was assessed by using the proportion of days covered by the treatment and persistence. RESULTS: A total of 3015 patients were included, and the mean age was 66 years. Almost 76% of the patients had a reimbursement for BAS (combined prescription of beta-blocker/antiplatelet/lipid-lowering drug), BASI (combined prescription of beta-blocker/antiplatelet/lipid-lowering drug/angiotensin-converting enzyme inhibitor) or AS (combined prescription of antiplatelet/lipid-lowering drug) treatment. Medication adherence was around 83% for aspirin and 75% for lipid-lowering drugs for the 1-year persistence. During the same time, the proportion of days covered was suboptimal. Almost 4% of patients died after leaving hospital, 45% went to a cardiac rehabilitation centre and 23% had at least one hospital readmission, whatever the reason. Patients had a mean number of 11 general practitioner consultations during the year. Almost 41% of patients did not have a consultation with a cardiologist, and 38.4% had at least two consultations. Rehabilitation and general practitioner consultations were associated with adherence. CONCLUSIONS: These new results provide clear information on the medical care environment of patients, and help us to improve care transition. Close collaboration between healthcare practitioners is very important in the early stages of outpatient follow-up.