Dysmotility gastrointestinal disorder

Gastrointestinal (GI) symptoms are highly prevalent among individuals with autism spectrum disorder (ASD), but the molecular link between ASD and GI dysfunction remains poorly understood. The enteric nervous system (ENS) is critical for normal GI motility and has been shown to be altered in mouse models of ASD and other neurological disorders. Contactin-associated protein-like 2 (Cntnap2) is an ASD-related synaptic cell-adhesion molecule important for sensory processing. In this study, we examine the role of Cntnap2 in GI motility by characterizing Cntnap2's expression in the ENS and assessing GI function in Cntnap2 mutant mice...

INTRODUCTION: Gastrointestinal motility disorders are highly prevalent without satisfactory treatment. noninvasive electrical neuromodulation is an emerging therapy for treating various gastrointestinal motility disorders. AREAS COVERED: In this review, several emerging noninvasive neuromodulation methods are introduced, including transcutaneous auricular vagal nerve stimulation, percutaneous auricular vagal nerve stimulation, transcutaneous cervical vagal nerve stimulation, transcutaneous electrical acustimulation, transabdominal interference stimulation, tibial nerve stimulation, and translumbosacral neuromodulation therapy...

Duchenne muscular dystrophy is a progressive muscle wasting disease caused by pathogenic variants in DMD. Gastrointestinal involvement is increasingly recognised in older patients and can manifest as life-threatening bowel dysmotility. We describe a series of adults with Duchenne muscular dystrophy who developed either severe colonic pseudo-obstruction or sigmoid volvulus requiring urgent assessment and intervention. The presentations varied in their clinical picture and outcomes, but together highlight the complexity of managing gastrointestinal complications in this cohort of patients...

OBJECTIVES: Gastrointestinal dysmotility may arise in a variety of auto-immune and auto-inflammatory diseases and hitherto has not been described in Behçet's syndrome (BS). METHODS: We present data on a cohort of seven patients under our care who presented with symptoms of and investigations compatible with an immune associated disorder of gastrointestinal motility, or enteric neuropathy. RESULTS: We describe the clinical features and investigation results...

BACKGROUND AND AIMS: Peroral Endoscopic Myotomy (POEM) is a minimally invasive technique used to treat esophageal motility disorders. Opioid use has been demonstrated to adversely affect esophageal dysmotility and is associated with an increased prevalence of esophageal motility disorders. Our aim was to investigate the effect of narcotic use on success rates in patients undergoing POEM. METHODS: This was a single center retrospective study of patients undergoing POEM between February 2017 and September 2021...

INTRODUCTION: The effect of stiff person syndrome spectrum disorders (SPSD) on the gastrointestinal tract (GIT) is unknown. This case series aims to characterize the prevalence and types of GI dysfunction in individuals with SPSD. METHODS: A retrospective chart review included individuals diagnosed with SPSD with descriptors of GI symptoms in their medical records. SPSD phenotypes, type of motility test performed, and dysmotility pattern (upper, lower, or diffuse) were assessed...

Stiff person syndrome (SPS) and biliary dyskinesia are two rare but potentially debilitating conditions that can significantly impact quality of life. SPS is a rare neurological disorder characterized by muscle stiffness, rigidity, and muscle spasms that primarily affect the trunk and limbs and is associated with extra-axial manifestations involving the gastrointestinal tract. Biliary dyskinesia is a gastrointestinal disorder characterized by abnormal gallbladder emptying, leading to symptoms of intense abdominal pain, nausea, and vomiting...

Oxidative stress is involved in many gastrointestinal (GI) disorders as either the primary pathogenesis (radiation, chemotherapy, toxicity, ischemia-reperfusion) or a secondary driving force of disease progression (inflammation and diabetes). The GI tract is innervated intrinsically by the enteric nervous system (ENS) with a diverse role in maintaining gut homeostasis and GI motility. Complications in the physiological functioning of the ENS results in GI dysfunction that can result in debilitating sequelae from dysmotility greatly impacting quality of life and leading to potentially fatal complications...

Melissa officinalis (lemon balm) has a long history of being used in traditional medicine for the treatment of gastrointestinal tract disorders in human thanks to its spasmolytic and stress reducing effects. These pharmacological properties have been confirmed in laboratory animals. Unfortunately, in the case of veterinary medicine, the effect of lemon balm on gut contractility has been never subjected to a detailed investigation. On the other hand, there is urgent need of new drugs that could be safely used in animals for both, causative and symptomatic treatment...

Neuromuscular diseases (NMDs) affect the development and growth of the neuromuscular system in children. The pathology can occur anywhere along the neuromuscular pathway, from the brain to the nerves to the muscle fibers. These diseases have a profound impact on the quality of life not only of children but also of their families. The predominant manifestation in NMDs is hypotonia, which leads to muscle weakness and fatigue, reduced mobility, and decreased physical performance. However, multiple organ systems can be affected, with resulting orthopedic, cardiac, infectious, respiratory, and nutritional problems...

Mast Cell Activation Syndrome (MCAS) is only a recently recognized, multisystem disorder that has been historically underrecognized due its estimated high prevalence. Recognition, testing, and treatment all pose unique challenges to condition management. The condition warrants more concern due to its prevalence and under recognition. Of equal importance in this case is the overlap seen between conditions such as MCAS, gastric dysmotility often manifesting as small intestine bacterial overgrowth (SIBO), dysautonomia, joint hypermobility disorders such as hypermobile Ehlers Danlos Syndrome (h-EDS) or other hypermobility spectrum disorders (HSD), and autoimmunity...

Pitt-Hopkins syndrome (PTHS) is a rare, neurodevelopmental genetic disorder caused by mutations in the TCF4 gene. This gene encodes a ubiquitous, class I, basic helix-loop-helix factor, which is implicated in various developmental and regulatory processes. Predominant clinical manifestations of PTHS include facial dysmorphisms, intellectual disability, absence of expressive language, epilepsy, as well as visual and musculoskeletal impairments. Gastrointestinal (GI) complications, such as chronic intestinal pseudo-obstruction, gastroparesis with delayed bowel transit, chronic constipation culminating in failure to thrive, and gastroesophageal reflux disease (GERD), are also prevalent in these patients...

Enteric glial cells (EGCs) are the major component of the enteric nervous system and affect the pathophysiological process of intestinal motility dysfunction. MicroRNAs (miRNAs) play an important role in regulating gastrointestinal homeostasis. However, the mechanism of miRNA-mediated regulation of EGCs in intestinal dysmotility remains unclear. In this study, we investigated the effect of EGC apoptosis on intestinal dysmotility, and the effect of miR-26b-3p on EGC proliferation and apoptosis in vivo and in vitro...

BACKGROUND/AIM: Diabetes has substantive co-occurrence with disorders of gut-brain interactions (DGBIs). The pathophysiological and molecular mechanisms linking diabetes and DGBIs are unclear. MicroRNAs (miRNAs) are key regulators of diabetes and gut dysmotility. We investigated whether impaired gut barrier function is regulated by a key miRNA, miR-10b-5p, linking diabetes and gut dysmotility. METHODS: We created a new mouse line using the Mb3Cas12a/Mb3Cpf1 endonuclease to delete mir-10b globally...

BACKGROUND & AIMS: Gastrointestinal (GI) symptoms are common in Parkinson's Disease (PD) patients, and GI dysmotility is thought to induce motor fluctuations, requiring escalation of levodopa therapy. The role of GI consultation in managing such symptoms, however, is unclear. In this study, we investigate the possible association between GI dysmotility symptoms and escalated LEDD therapy, as well as factors associated with GI consultation for PD symptom management. METHODS: This was a retrospective case-study of 248 PD patients evaluated by outpatient neurology at Massachusetts General Brigham Healthcare from 2018 to 2022...

BACKGROUND: Microorganisms provide various benefits to their human hosts, including assisting with digestion, synthesizing certain vitamins, developing the gastrointestinal and immune systems, regulating metabolism, and protecting against some pathogens. However, microbial imbalances can cause tissue damage and contribute to inflammatory disorders and cancers. Microbial dysbiosis refers to an imbalance or disruption in the normal composition and function of the microbial communities that inhabit various body parts, including the gut, oral cavity, skin, and reproductive tract...

Individuals with Autism Spectrum Disorder (ASD; autism) commonly present with gastrointestinal (GI) illness in addition to core diagnostic behavioural traits. The appendix, or cecum in mice, is important for GI homeostasis via its function as a key site for fermentation and a microbial reservoir. Even so, the role of the appendix and cecum in autism-associated GI symptoms remains uninvestigated. Here, we studied mice with an autism-associated missense mutation in the post-synaptic protein neuroligin-3 (Nlgn3R451C ), which impacts brain and enteric neuronal activity...

Congenital gastrointestinal disorders and other surgical diagnoses share many common problems: increased nutritional requirements to prevent catabolism, enhance wound healing, and provide optimal growth; impaired motility and altered intestinal flora leading to feeding intolerance requiring long-term parenteral nutrition; gastroesophageal reflux and poor feeding mechanics requiring tube feedings and support; growth failure; poor barrier function and risk of infection; and other long-term sequelae. Consequently, the surgical "at-risk" infant requires specialized nutritional support to meet their increased requirements to ensure adequate growth and meet the increased demands from critical illness...

BACKGROUND: Neurogenic bowel is a dysmotility disorder following spinal cord injury (SCI) that negatively impacts quality of life, social integration, and physical health. Colonic transit is directly modulated by the enteric nervous system. Interstitial Cells of Cajal (ICC) distributed throughout the small intestine and colon serve as specialized pacemaker cells, generating rhythmic electrical slow waves within intestinal smooth muscle, or serve as an interface between smooth muscle cells and enteric motor neurons of the myenteric plexus...

BACKGROUND: Brain-derived neurotrophic factor (BDNF) acts as a neuromodulator to regulate gut motility, but the role of BDNF in diabetes-related dysmotility is uncertain. The aim of this study was to investigate the possible involvement of BDNF and its receptor TrkB in the colonic hypomotility of mice with streptozotocin (STZ)-induced diabetes. METHODS: A single intraperitoneal injection of STZ was used to establish a type 1 diabetes model. An organ bath system was applied to observe the contractile activities of colonic muscle strips...