Chapter 5: The roles of genetics in primary hyperparathyroidism.

Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.

Youth With Functional Abdominal Pain Disorders Have More Sleep Disturbances. A School-Based Study.

Background: There is a bidirectional relationship between sleep and pain disturbances. Sleep disturbances increase the risk for chronic pain, while chronic pain can interfere with sleep. Hence, we assessed the subjective sleep characteristics of youth with functional abdominal pain disorders (FAPDs) compared to healthy youth and examined associations with gastrointestinal symptoms.

The effect of foot immersion and neck cooling on cardiac autonomic function in older adults exposed to indoor overheating: a randomized crossover trial.

Foot immersion and neck cooling are recommended cooling strategies for protecting heat-vulnerable persons during heat waves. While we recently showed that these strategies do not limit core temperature increases in older adults during prolonged heat exposure, we did observe small reductions in heart rate. Expanding on these findings, we examined the effects of foot immersion with and without neck cooling on cardiac autonomic function.

Exploring Diagnostic Priorities: The Role of Colonic Manometry in Evaluating Pediatric Patients with Intractable Idiopathic Constipation Prior to Sacral Nerve Stimulation.

Background: Despite the limited understanding of its precise mechanism of action, sacral nerve stimulation (SNS) has proven to be helpful for pediatric patients with constipation, particularly those with fecal incontinence. It is unclear whether the outcome of SNS is impacted by normal or abnormal colonic motility. Our study aimed to determine whether colonic manometry results had an impact on the outcome of SNS as a treatment in pediatric patients with refractory idiopathic constipation.

Physiology of lower gastrointestinal tract.

Background: The lower gastrointestinal (GI) tract, formed from the midgut and hindgut, encompasses the colon, rectum and anal canal.

Aim: The aim of this review is to provide an overview of the anatomy and physiology of the lower GI tract.

Methods: Literature review on anatomy and physiology of the lower GI tract, including normal motility and phases of defecation.

High prevalence of gastrointestinal disorders in a large cohort of patients with joint hypermobility.

The gastrointestinal (GI) manifestations in children with hypermobile Ehlers-Danlos syndrome/joint hypermobility syndrome (hEDS/JHS) are not well described. We investigated the prevalence of GI disorders in children and young adults with hEDS/JHS through a single-center retrospective review. Demographic data, clinical history, symptoms, and diagnostic studies were reviewed.

"An urgent need for transition of care programs for adolescents and young adults with neurogastroenterology and motility disorders".

Transition of Care for Adolescents and Young Adults (AYA) with Neurogastroenterology & Motility (NGM) Disorders.

A multicenter registry study on percutaneous electrical nerve field stimulation for pediatric disorders of gut-brain interaction.

Objectives: Percutaneous electrical nerve field stimulation (PENFS) has demonstrated promise in single-center trials for pediatric abdominal pain-related disorders of gut-brain interaction (DGBI). Our aim was to explore efficacy of PENFS as standard therapy for DGBI in a registry involving multiple pediatric gastroenterology referral centers.

Methods: This was a multicenter, prospective open-label registry of children (8-18 years) undergoing PENFS for DGBI at seven tertiary care gastroenterology clinics.

Impact of prophylactic central lymph node dissection on the complications and recurrence rates in papillary thyroid carcinoma-An AFCE (French-speaking Association of Endocrine Surgery) multicentre study based on the EUROCRINE® national data.

Background: Prophylactic central neck dissection (pCND) remains controversial during the initial surgery for preoperative and intraoperative node-negative (cN0) papillary thyroid carcinoma (PTC).

Methods: Patients undergoing thyroidectomy with or without pCND (Nx) for PTC in nine French surgical departments, registered in the EUROCRINE® national data in France between January 2015 and June 2021, were included in a cohort study. Demographic and clinicopathological characteristics, complications, and recurrence rates were compared using multivariate regression analysis.

Characterization of pharyngeal contractile integral using pharyngeal manometry in children.

Objectives: Pharyngeal contractile integral (PhCI) is the product of mean pharyngeal contractile amplitude, length, and duration, and provides a single metric for the vigor of entire pharyngeal contraction. A major limitation in children is lack of characterization of PhCI on high-resolution pharyngeal manometry. We aimed to determine and compare the values of PhCI in children with the abnormal and normal videofluoroscopic study of swallow (VFSS).

Safety and Effectiveness of Prucalopride in Children with Functional Constipation with and without Upper Symptoms.

Introduction: Pediatric prucalopride studies for treatment of gastrointestinal (GI) disorders have reported mixed results. We aimed to assess the safety and effectiveness of prucalopride in functional constipation (FC) with and without upper GI symptoms.

Methods: Retrospective data on patients with FC receiving combined prucalopride and conventional therapy was compared with those receiving conventional therapy alone within 12 months.

Psychological distress and coping efficacy in children with disorders of gut-brain interaction.

Background: Multiple psychological factors influence disorders of gut-brain interaction (DGBIs). We aimed to evaluate psychological distress in Colombian schoolchildren with and without DGBIs.

Methods: We included children ages 8-18 years without organic medical conditions from largest regional public schools in Colombia.

Liquid and solid gastric emptying and correlation with clinical characteristics in pediatric patients with dyspepsia.

Background: There is limited data on gastric emptying in dyspeptic children. We aimed to determine solid and liquid emptying rates in dyspeptic children and correlate with clinical characteristics.

Methods: Charts of dyspeptic children undergoing 4-hour dual-phase gastric scintigraphy were reviewed for demographics, symptoms, and comorbidities.

Percutaneous electrical nerve field stimulation compared to standard medical therapy in adolescents with functional abdominal pain disorders.

Introduction: Standard medical therapy (SMT) in children with functional abdominal pain disorders (FAPD) includes cyproheptadine and amitriptyline. While percutaneous electrical nerve field stimulation (PENFS) has shown benefit, no study has compared outcomes of PENFS to SMT. We aimed to examine changes in abdominal pain, nausea and disability before and after treatment and compare outcomes between treatments.

Microbiota-derived butyrate dampens linaclotide stimulation of the guanylate cyclase C pathway in patient-derived colonoids.

Background & Aims: Disorders of gut-brain interaction (DGBI) are complex conditions that result in decreased quality of life and a significant cost burden. Linaclotide, a guanylin cyclase C (GCC) receptor agonist, is approved as a DGBI treatment. However, its efficacy has been limited and variable across DGBI patients.

Assessing Patient-Reported Experiences for In-Person and Telemedicine-Based Preoperative Evaluations.

The COVID-19 pandemic has transformed health care delivery through the rise of telehealth solutions. Though telemedicine-based care has been identified as safe and feasible in postoperative care, data on initial surgical consultations in the preoperative setting are lacking. We sought to compare patient characteristics, anticipated downstream care utilization, and patient-reported experiences (PREs) for in-person versus telemedicine-based care conducted for initial consultation encounters at a hernia and abdominal wall center.

Percutaneous Electrical Nerve Field Stimulation in Children and Adolescents With Functional Dyspepsia-Integrating a Behavioral Intervention.

Objectives: Functional dyspepsia (FD) includes postprandial distress and epigastric pain syndrome. Percutaneous electrical nerve field stimulation (PENFS) in addition to behavioral interventions (BI) has shown benefits in children with functional abdominal pain but not specifically in FD. We aimed to assess the efficacy of PENFS for treating FD and compare the outcomes with those who received the combination of PENFS + BI.

Surgery for Primary Aldosteronism in France From 2010 to 2020 - Results from the French-Speaking Association of Endocrine Surgery (AFCE): Eurocrine Study Group.

Objective: Describe the diagnostic workup and postoperative results for patients treated by adrenalectomy for primary aldosteronism in France from 2010 to 2020.

Background: Primary aldosteronism (PA) is the underlying cause of hypertension in 6% to 18% of patients. French and international guidelines recommend CT-scan and adrenal vein sampling as part of diagnostic workup to distinguish unilateral PA amenable to surgical treatment from bilateral PA that will require lifelong antialdosterone treatment.

Recurrence After Surgery for Primary Hyperparathyroidism in 517 Patients With Multiple Endocrine Neoplasia Type 1: An Association Francophone de Chirurgie Endocrinienne and Groupe d'étude des Tumeurs Endocrines study.

Objective: To assess recurrence according to the type of surgery for primary hyperparathyroidism (pHPT) in multiple endocrine neoplasia type 1 ( MEN1 ) patients and to identify the risk factors for recurrence after the initial surgery.

Background: In MEN1 patients, pHPT is multiglandular, and the optimal extent of initial parathyroid resection influences the risk of recurrence.

Methods: MEN1 patients who underwent initial surgery for pHPT between 1990 and 2019 were included.

Studies on the contribution of PPAR Gamma to tuberculosis physiopathology.

Introduction: Tuberculosis (TB) is a major health problem characterized by an immuno-endocrine imbalance: elevated plasma levels of cortisol and pro- and anti-inflammatory mediators, as well as reduced levels of dehydroepiandrosterone. The etiological agent, Mycobacterium tuberculosis (Mtb), is captured by pulmonary macrophages (Mf), whose activation is necessary to cope with the control of Mtb, however, excessive activation of the inflammatory response also leads to tissue damage. Glucocorticoids (GC) are critical elements to counteract the immunoinflammatory reaction, and peroxisome proliferator-activated receptors (PPARs) are also involved in this regard.