[Elderly onset Crohn's disease: Clinical and therapeutic features]. / Maladie de Crohn du sujet âgé : Particularités cliniques et thérapeutiques.

Crohn's disease (CD) is a pathology that typically affects young people. With the aging of the population, there is an increase of its incidence in the elderly. Several studies have compared the clinical and therapeutic features of the CD in the elderly and young patients with discordant results. The objective of this work was to identify the clinical and therapeutic characteristics of elderly onset CD. The clinical presentation of CD in the elderly has some peculiarities. It seems that the disease has a less severe profile. The ileal and colic locations as well as the inflammatory phenotype are the most frequent. The treatment of elderly patients poses a real challenge to the clinician because of the field particularity and the lack of large-scale data in the literature. The frequency of comorbidities and polymedications is at the origin of the lower prescription of immunomodulators and biotherapies and the frequency of postoperative complications and immunosuppressive treatments.

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

BACKGROUND: Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology. METHODS: 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary. FINDINGS: A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromosomal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link. INTERPRETATION: We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogenesis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility. FUNDING: Université Paris Saclay, Agence Nationale de Biomédecine.

Clinical practice standards for colonoscopy.

Colonoscopy is considered as the most effective tool for preventing, screening, and diagnosing colorectal lesions. Effectiveness of colonoscopy was identified as a major priority, and it strictly depends on quality measures. Therefore, international guidelines were formulated on quality indicators for colonoscopy, aiming to reduce the rate of interval cancers related to missed lesions during colonoscopy. Quality indicators are divided into 3 time periods: preprocedure, intraprocedure, and postprocedure.  The main pre-procedural indicators are the assessment of the appropriateness of indication of colonoscopy and the prescription of adequate bowel preparation during a consultation prior to colonoscopy. Per-procedural criteria include all technical aspects of the procedure, which are "endoscopist-dependent" factors, particularly cecal intubation, detection of adenomas and withdrawal time. The main post-procedure indicators are the rate of complications, patient experience and optimal surveillance intervals following removal of colorectal polyps. The implementation of key performance measures in endoscopy practice is increasingly important as it can help improving our care of patients and optimize outcomes. In this review, the "Club d'endoscopie digestive" (CED) presented a summary of the main colonoscopy quality indicators, and suggested recommendations that took into account the particularities of our local conditions.

Case Report: A giant fecaloma revealed by severe aspiration pneumonia and urinary retention.

Fecaloma is an accumulation of hardened impacted stool typically occurring in the sigmoid colon and rectum. It mainly affects elderly and bedridden patients suffering from chronic constipation and can be revealed by different signs. We report a case of 74-year-old female, with anorexia, Alzheimer's disease, and chronic constipation, who was admitted to the emergency department with complaints of dyspnea and anuria. Clinical examination showed fever, Glasgow Coma Scale score of 13/15, tachycardia with a blood pressure of 100/50 mmHg, polypnea with hypoxia, foci of crepitant rales in pulmonary auscultation and a tender hypogastric mass with mild diffuse abdominal tenderness. Digital rectal examination revealed hard fecal material. Computed tomography (CT) images demonstrated bilateral pulmonary parenchymal condensation and a huge heterogeneous fecaloma in the sigmoid colon and rectum compressing the bladder. Based on these findings, the diagnosis of giant fecaloma causing aspiration pneumonia and urinary retention was retained. Manual disimpaction and bowel enemas were done but they were unsuccessful and surgical treatment was refused. Ultimately the patient died due to septic shock. Early diagnosis should be made to relieve symptoms and prevent complications.