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Cureus May 2024Achalasia is a rare esophageal motility disorder characterized by incomplete lower esophageal sphincter (LES) relaxation, increased LES tone, and absent peristalsis in...
Achalasia is a rare esophageal motility disorder characterized by incomplete lower esophageal sphincter (LES) relaxation, increased LES tone, and absent peristalsis in the esophagus. Management of achalasia includes pneumatic dilation (PD), Botulinum toxin A (BTA) injections to LES, per oral endoscopic myotomy (POEM), and a laparoscopic Heller myotomy (LHM). Situs inversus is a rare congenital condition in which the abdominal and thoracic organs are located in a mirror image of the normal position in the sagittal plane. We herein present a case of a patient with Type II achalasia who underwent an LHM and toupet fundoplication in the setting of an isolated laterality malposition of the liver on the left side of the abdomen. Single organ congenital lateralization defects are extremely rare with literature describing few case reports and case series. A much rarer condition is isolated organ situs inversus. In the foregut, most reports of isolated situs inversus are limited to isolated gastric situs inversus, dextrogastria. Most isolated liver malposition has described situs ambiguous, at the midline, usually associated with polysplenia. Our patient had the normal position of the foregut structures, including the stomach, spleen, pancreas, and duodenum, except for the isolated situs inversus of the liver. Because of the unusual anatomy, performing an LHM was quite challenging. Our workup approach and intraoperative considerations are described. By displacing the larger left lobe of the liver, we were able to safely complete a standard heller myotomy with adequate length and distally across the gastroesophageal junction. Our patient had an uncomplicated post-operative course, and at follow-up has continued to show improvements in her dysphagia and her quality of life.
PubMed: 38872663
DOI: 10.7759/cureus.60229 -
Cureus May 2024Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in the brain. It leads to neurological symptoms, disability-adjusted life years, and difficult emotional and physical situations for patients and their families. As unusual brain symptoms appear, it becomes important to understand the different clinical manifestations of CADASIL. Our case report and review examine several cases to demonstrate different presentations and management strategies of CADASIL. A 52-year-old male with a family history of strokes at a young age from his father and paternal grandfather presented to a neurology clinic for left facial droop and drooling. Brain magnetic resonance imaging showed extensive periventricular and subcortical white matter disease, including the external capsule and subcortical white matter of the temporal lobe. Findings were suggestive of small vessel vasculopathy. A cerebral angiogram showed that all large extra- and intracranial vessels were patent without evidence of aneurysm formation. There was no obvious evidence of beading of the distal intracranial vessels. Cerebrospinal fluid studies were normal. The NOTCH3 mutation was sent to test for CADASIL, which came back positive. The patient was started on aspirin (81 mg) and atorvastatin (20 mg) daily. The patient was counseled on the possibility of having an ischemic or hemorrhagic stroke. Aspirin and atorvastatin were continued, a neuropsychological evaluation was ordered, and CADASIL genetic counseling and testing were offered to him and his children. Over several years, patients developed several strokes and seizures due to infarcts. He also developed intraparenchymal hemorrhage complicated by dysphagia, requiring a feeding tube. Due to his severe physical debility, he was discharged to a nursing home for rehabilitation, where he did not improve with therapy and remained bedbound. He was discharged and sent home with his family. CADASIL can present as a diagnostic challenge due to its common presentation with migraines, transient ischemic attacks, and strokes, with or without risk factors. This unique presentation of CADASIL with facial palsy highlights the importance of emerging atypical presentations and the need for a detailed history of neuroimaging, family history, and personal history of neurovascular events. By accurately diagnosing the condition, patients and families can be counseled on the disease course and genetics. Management requires a multidisciplinary approach with neurology, genetic counseling, physical therapy, psychology, and psychiatry if depression or anxiety is present, with the aim of improving the patient's quality of life.
PubMed: 38868233
DOI: 10.7759/cureus.60165 -
Endoscopy Dec 2024
Topics: Humans; Esophageal Achalasia; Esophageal Diseases; Female; Male; Middle Aged
PubMed: 38866059
DOI: 10.1055/a-2329-2150 -
Cureus May 2024Sarcoidosis is a multisystem granulomatous disorder with an unknown etiology that typically involves the lungs, skin, and lymph nodes, with neurological involvement...
Sarcoidosis is a multisystem granulomatous disorder with an unknown etiology that typically involves the lungs, skin, and lymph nodes, with neurological involvement being relatively rare. We discuss a case of neurosarcoidosis in a 64-year-old man who initially presented with unexplained cognitive impairment, insomnia, hyponatremia, paresthesias, and weight loss and later developed uveitis, diplopia, and dysphagia. Ultimately, findings of hilar and mediastinal lymphadenopathy on chest computed tomography (CT) resulted in bronchoscopy, which led to the diagnosis. This case highlights a rare presentation of sarcoidosis with an unusual constellation of symptoms. We discuss the difficulty involved in diagnosing this disorder as well as its highly variable course.
PubMed: 38864033
DOI: 10.7759/cureus.60146 -
Clinical Pathology (Thousand Oaks,... 2024Intramuscular lipomas, typically found in subcutaneous tissue, rarely affect deeper muscular planes, especially those of the head and neck region. The following are 3...
Intramuscular lipomas, typically found in subcutaneous tissue, rarely affect deeper muscular planes, especially those of the head and neck region. The following are 3 cases of intramuscular lipomas involving the sternocleidomastoid muscle. The first 2 patients presented with painless, palpable masses confirmed by diagnostic imaging as well-circumscribed intramuscular lipomas. One was treated surgically, while the other was managed conservatively with monitoring and close follow-up. The third patient reported dysphagia associated with occasional dyspnea and mild pain. The mass was identified as infiltrative lipoma and was resected surgically. Complete tumor removal with no recurrence at 6 months was observed for the first and last cases. The second case was serially followed at 3 and 6 months with no interval changes. We report the largest case series on intramuscular lipomas of the sternocleidomastoid muscle to enhance our understanding of this rare entity.
PubMed: 38864025
DOI: 10.1177/2632010X241260200 -
Frontiers in Public Health 2024Positive lifestyle adjustments have become effective methods in treating gastroesophageal reflux disease (GERD). Utilizing short video platforms to encourage GERD...
BACKGROUND
Positive lifestyle adjustments have become effective methods in treating gastroesophageal reflux disease (GERD). Utilizing short video platforms to encourage GERD patients for effective self-disease management is a convenient and cost-effective approach. However, the quality of GERD-related videos on short video platforms is yet to be determined, and these videos may contain misinformation that patients cannot recognize. This study aims to assess the information quality of GERD-related short videos on TikTok and Bilibili in China.
METHODS
Search and filter the top 100 GERD-related videos on TikTok and Bilibili based on comprehensive rankings. Two independent gastroenterologists conducted a comprehensive evaluation of the video quality using the Global Quality Score and the modified DISCERN tool. Simultaneously, the content of the videos was analyzed across six aspects: definition, symptoms, risk factors, diagnosis, treatment, and outcomes.
RESULTS
A total of 164 GERD-related videos were collected in this study, and videos from non-gastrointestinal health professionals constitute the majority (56.71%), with only 28.66% originating from gastroenterology health professionals. The overall quality and reliability of the videos were relatively low, with DISCERN and GQS scores of 2 (IQR: 2-3) and 3 (IQR: 2-3), respectively. Relatively speaking, videos from gastrointestinal health professionals exhibit the highest reliability and quality, with DISCERN scores of 3 (IQR: 3-4) and GQS scores of 3 (IQR: 3-4), respectively.
CONCLUSION
Overall, the information content and quality of GERD-related videos still need improvement. In the future, health professionals are required to provide high-quality videos to facilitate effective self-disease management for GERD patients.
Topics: Humans; Gastroesophageal Reflux; China; Cross-Sectional Studies; Video Recording; Reproducibility of Results
PubMed: 38864023
DOI: 10.3389/fpubh.2024.1400749 -
Orphanet Journal of Rare Diseases Jun 2024Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However,...
BACKGROUND
Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However, awareness of the adult-onset (AO) subtype is increasing, often with non-specific symptoms leading to delayed and misdiagnosis. Dysphagia, commonly recognized as a clinical morbidity in NPC1, raises concerns for swallowing safety and aspiration risk. This study aims to characterize swallowing function in AO NPC1, addressing the gap in understanding and clinical management.
METHODS
Fourteen AO NPC1 individuals in a prospective natural history study (NCT00344331) underwent comprehensive assessments, including history and physical examinations utilizing the NPC1 severity rating scale, videofluoroscopic swallowing studies with summary interpretive analysis, and cerebrospinal fluid (CSF) collection for biomarker evaluation at baseline visit. Descriptive statistics and multivariate statistical modeling were employed to analyze NPC1 disease covariates, along with the American Speech-Language-Hearing Association National Outcome Measure (ASHA-NOMS) and the NIH Penetration Aspiration Scale (NIH-PAS).
RESULTS
Our cohort, comprised of 14 predominately female (n = 11, 78.6%) individuals, had an average age of 43.1 ± 16.7 years at the initial visit. Overall, our AO patients were able to swallow independently with no/minimal cueing, with 6 (43%) avoiding specific food items or requiring more time. Upon risk analysis of aspiration, the cohort demonstrated no obvious aspiration risk or laryngeal aspiration in 8 (57%), minimal risk with intermittent laryngeal penetration and retrograde excursion in 5(36%), and moderate risk (7%) in only one. Dietary modifications were recommended in 7 (50%), particularly for liquid viscosities (n = 6, 43%) rather than solids (n = 3, 21%). No significant correlations were identified between swallowing outcomes and NPC1-related parameters or CSF biomarkers.
CONCLUSION
Despite the heterogeneity in NPC1 presentation, the AO cohort displayed functional swallowing abilities with low aspiration risk with some participants still requiring some level of dietary modifications. This study emphasizes the importance of regular swallowing evaluations and management in AO NPC1 to address potential morbidities associated with dysphagia such as aspiration. These findings provide clinical recommendations for the assessment and management of the AO cohort, contributing to improved care for these individuals.
Topics: Humans; Niemann-Pick Disease, Type C; Female; Adult; Male; Deglutition; Deglutition Disorders; Middle Aged; Prospective Studies; Young Adult
PubMed: 38863022
DOI: 10.1186/s13023-024-03241-7 -
Acta Otorhinolaryngologica Italica :... Jun 2024The aims of this study was to analyse fibreoptic endoscopic evaluation of swallowing (FEES) findings in tube-fed patients with coronavirus disease 2019 (COVID-19).
OBJECTIVE
The aims of this study was to analyse fibreoptic endoscopic evaluation of swallowing (FEES) findings in tube-fed patients with coronavirus disease 2019 (COVID-19).
METHODS
Seventeen patients who had been intubated during intensive care unit (ICU) stay were enrolled. Pooling of secretions, dysphagia phenotype, penetration/aspiration and residue after swallow were assessed through FEES. The Functional Oral Intake Scale (FOIS) scores were also collected. Patients with significant swallowing impairment were evaluated again after 2 weeks.
RESULTS
All patients were tube-fed at enrollment. According to the FEES results, 7 started total oral feeding with at least one consistency. The more common dysphagia phenotypes were propulsive deficit and delayed pharyngeal phase. Pooling of secretions, penetration/aspiration, and residue after swallow were frequently documented. A significant improvement in FOIS scores was found during the second FEES examination.
CONCLUSIONS
Swallowing impairment in patients with severe COVID-19 after discharge from the ICU is characterised by propulsive deficit and delayed pharyngeal phase. Most of these patients required feeding restrictions even if feeding abilities seem to improve over time.
Topics: Humans; COVID-19; Deglutition Disorders; Male; Female; Middle Aged; Aged; Airway Extubation; Intensive Care Units; Enteral Nutrition; Fiber Optic Technology; Aged, 80 and over; Endoscopy; Adult
PubMed: 38859795
DOI: 10.14639/0392-100X-N2816 -
Effect of nutritional status on occurrence of pneumonia after traumatic cervical spinal cord injury.Scientific Reports Jun 2024Pneumonia after cervical spinal cord injury (CSCI) is a common and serious complication; however, its nutrition-related etiology has not yet been elucidated. This study...
Pneumonia after cervical spinal cord injury (CSCI) is a common and serious complication; however, its nutrition-related etiology has not yet been elucidated. This study aimed to elucidate the effects of nutritional factors on pneumonia after CSCI. Patients with acute traumatic CSCI who were admitted within 3 days after injury and followed up for at least 3 months were retrospectively examined. Occurrence of pneumonia, nutritional status, severity of dysphagia, vital capacity, use of respirators, and motor scores for paralysis were evaluated. Of 182 patients included in this study, 33 (18%) developed pneumonia. Multiple logistic regression analysis revealed that low nutritional status, severe paralysis, and low vital capacity were significant risk factors for pneumonia. The severity of paralysis, respiratory dysfunction, and poor nutritional status can affect the occurrence of pneumonia after CSCI. In addition to respiratory management, nutritional assessment and intervention may play key roles in preventing pneumonia associated with spinal cord injury-induced immune depression. Nutritional care should be provided as soon as possible when the nutritional status of a patient worsens after an injury.
Topics: Humans; Spinal Cord Injuries; Nutritional Status; Male; Female; Middle Aged; Pneumonia; Adult; Retrospective Studies; Risk Factors; Aged; Cervical Cord
PubMed: 38858459
DOI: 10.1038/s41598-024-64121-5 -
Frontiers in Neurology 2024Post-stroke dysphagia (PSD) affects the efficacy and safety of swallowing, causing serious complications. Acupuncture is a promising and cost-effective treatment for...
BACKGROUND
Post-stroke dysphagia (PSD) affects the efficacy and safety of swallowing, causing serious complications. Acupuncture is a promising and cost-effective treatment for PSD; however, as the number of randomized controlled trials increases, scientific analysis of the parameters and acupoint prescription is required. Therefore, this study aimed to explore the effects of acupuncture on parameters related to post-stroke dysphagia (PSD).
METHODS
We searched the Cochrane Library, PubMed, Embase, Web of Science, China National Knowledge Infrastructure, Wanfang Database, Chinese Biomedical Literature, and Chongqing VIP Database for randomized controlled trials of acupuncture for PSD in the last 15 years and relevant parameters were analyzed using data mining techniques.
RESULTS
In total, 3,205 records were identified, of which 3,507 patients with PSD were included in 39 studies. The comprehensive analysis demonstrated that the closest parameter combinations of acupuncture on PSD were 0.25 mm × 40 mm needle size, 30 min retention time, five treatments per week, and a 4-week total course of treatment. Additionally, the gallbladder and nontraditional meridians, crossing points, and head and neck sites are the most commonly used acupoint parameters. The core acupoints identified were GB20, RN23, EX-HN14, Gongxue, MS6, SJ17, EX-HN12, EX-HN13, and the commonly used combination of EX-HN12, EX-HN13, GB20, and RN23.
CONCLUSION
This study analyzed the patterns of PSD-related needling and acupoint parameters to provide evidence-based guidelines for clinical acupuncturists in treating PSD, potentially benefitting affected patients.
PubMed: 38854959
DOI: 10.3389/fneur.2024.1394348