Spasmodic Abdominal Pain and Other Gastrointestinal Symptoms in Pontocerebellar Hypoplasia Type 2

2021 ◽  
Author(s):  
Wibke G. Janzarik ◽  
Ingeborg Krägeloh-Mann ◽  
Thorsten Langer ◽  
Miriam van Buiren ◽  
Hans E. Schaefer ◽  
...  

Abstract Introduction Pontocerebellar hypoplasia type 2 (PCH2) is a rare neurodevelopmental disease with a high disease burden. Besides neurological symptoms, somatic symptoms, such as gastroesophageal reflux (GERD) and failure to thrive, are major contributors to this burden. Methods We report three patients with genetically confirmed PCH2A and significant gastrointestinal (GI) symptoms. Results Apart from impaired swallowing and GERD, which are frequently reported in patients with PCH2, all three patients suffered from episodes of spasmodic abdominal pain and restlessness. In one severely affected patient, lack of intestinal alkaline phosphatase (IAP) is demonstrated. Conclusion GI symptoms are common in PCH2. We draw attention to episodes of spasmodic abdominal pain seriously, aggravating the condition of the patients, especially their movement disorder, and discuss the role of IAP.

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Peter Wang

Enterogastric reflux (EGR) is the reflux of bile and digestive enzymes from the small bowel into the stomach. While it is a normal physiologic process in small amounts, excessive reflux and chronic EGR can cause upper GI symptoms often mimicking more common diseases such as gallbladder disease and GERD that often leads to its underdiagnosis. Identifying EGR is significant as it has been associated with the development of gastroesophogeal pathology including gastritis, esophagitis, ulcers, and mucosal metaplasia. This article presents a 22-year-old male with enterogastric reflux causing upper abdominal pain and will discuss the role of hepatobiliary scintigraphy in its diagnosis.


Author(s):  
Gözde Derviş Hakim ◽  
Şükran Köse ◽  
Pınar Şamlıoğlu ◽  
Cengiz Ceylan ◽  
Mehmet Can Uğur ◽  
...  

Objective: Although Covid-19 which has been identified as the disease caused by SARS COV-2 virus mainly affects the respiratory tract, it was observed that many systems were affected. The gastrointestinal system is one of the main systems involved. The aim of this manuscript was to perform epidemiological, virological, and clinical analysis of 59 Covid 19-positive patients with gastrointestinal symptoms. Method: Covid-19 diagnosed patients have been started to be admitted since March, 20, 2020. Epidemiological, demographical, clinical findings, laboratory analyses as well as hospitalization periods and disease progression of the patients presenting gastrointestinal system (GIS) symptoms admitted between March, 31, 2020 and August, 1, 2020. Results: Totally 710 Covid 19-positive patients hospitalized were screened. Among these patients, those with incomplete medical history and deficient data were excluded. The analysis of 281 patients admitted due to Covid-19 diagnosis with complete data since admission revealed that 59 patients presented GIS symptoms at admission. The aforesaid patients were compared with 222 patients admitted due to Covid-19 without GIS symptoms within the same period. GIS symptoms were detected on 59 (59/281) (20.99%) patients admitted due to Covid-19. Detailed review of these patients revealed that 18 (18/59) (30.50%) patients had nausea-vomiting, 10 (10/59) (16.95%) patients had abdominal pain, and 31 (31/59) (52.55%) patients had GIS bleeding. It was observed that vomiting was added into the clinical presentation in 7 of 18 patients. Although there is not any diarrhea symptom alone, total number of cases with diarrhea+abdominal pain, diarrhea+nausea-vomiting, diarrhea+nausea-vomiting+abdominal pain was 17 (17/59) (28.81%) of 59 patients. Conclusion: According to the results of this study, we have found 20.99% gi symptoms in the hospitalizated patients due to Covid 19. Although GIS symptoms are not associated with disease severity, they are important for the identification and spread of the disease, along with respiratory symptoms.


2019 ◽  
Vol 8 (3) ◽  
Author(s):  
Peter Wang

Enterogastric reflux (EGR) is the reflux of bile and digestive enzymes from the small bowel into the stomach. While it is a normal physiologic process in small amounts, excessive reflux and chronic EGR can cause upper GI symptoms often mimicking more common diseases such as gallbladder disease and GERD that often leads to its underdiagnosis. Identifying EGR is significant as it has been associated with the development of gastroesophogeal pathology including gastritis, esophagitis, ulcers, and mucosal metaplasia. This article presents a 22-year-old male with enterogastric reflux causing upper abdominal pain and will discuss the role of hepatobiliary scintigraphy in its diagnosis.


2020 ◽  
Vol 33 (2) ◽  
pp. 235-243 ◽  
Author(s):  
Chloé Melchior ◽  
Véronique Douard ◽  
Moïse Coëffier ◽  
Guillaume Gourcerol

AbstractIrritable bowel syndrome (IBS) is a chronic disorder characterised by recurrent abdominal pain or discomfort and transit disturbances with heterogeneous pathophysiological mechanisms. The link between food and gastrointestinal (GI) symptoms is often reported by patients with IBS and the role of fructose has recently been highlighted. Fructose malabsorption can easily be assessed by hydrogen and/or methane breath test in response to 25 g fructose; and its prevalence is about 22 % in patients with IBS. The mechanism of fructose-related symptoms is incompletely understood. Osmotic load, fermentation and visceral hypersensitivity are likely to participate in GI symptoms in the IBS population and may be triggered or worsened by fructose. A low-fructose diet could be integrated in the overall treatment strategy, but its role and implication in the improvement of IBS symptoms should be evaluated. In the present review, we discuss fructose malabsorption in adult patients with IBS and the interest of a low-fructose diet in order to underline the important role of fructose in IBS.


F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 301
Author(s):  
Fauzi Yusuf ◽  
Marhami Fahriani ◽  
Sukamto S. Mamada ◽  
Andri Frediansyah ◽  
Azzaki Abubakar ◽  
...  

Background: This study aimed to determine the cumulative prevalence of prolonged gastrointestinal (GI) symptoms, including nausea, vomiting, diarrhea, lack of appetite, abdominal pain, and dysgeusia, in survivors of both mild and severe COVID-19 worldwide and to discuss the potential pathogenesis.   Methods: Three databases (PubMed, Scopus, and Web of Science) were searched for relevant articles up to January 30, 2021. Data on study characteristics, clinical characteristics during follow-up, the number of patients with prolonged GI symptoms, and total number of COVID-19 survivors were retrieved according to PRISMA guidelines. The quality of eligible studies was assessed using the Newcastle-Ottawa scale. The pooled prevalence of specific prolonged GI symptoms was calculated and the association between COVID-19 severity and the occurrence of prolonged GI symptoms was assessed if appropriate.   Results: The global prevalence of prolonged nausea was 3.23% (95% CI: 0.54%–16.53%) among 527 COVID-19 survivors. Vomiting persisted in 93 of 2,238 COVID-19 survivors (3.19%, 95% CI: 1.62%–6.17%) and prolonged diarrhea was found in 34 of 1,073 survivors (4.12%, 95% CI: 1.07%–14.64%). A total of 156 patients among 2,238 COVID-19 survivors (4.41%, 95% CI: 1.91%–9.94%) complained of persistent decreased or loss of appetite. The cumulative prevalence of prolonged abdominal pain was 1.68% (95% CI: 0.84%–3.32%), whereas persistent dysgeusia was identified in 130 cases among 1,887 COVID-19 survivors (7.04%, 95% CI: 5.96%–8.30%). Data was insufficient to assess the relationship between COVID-19 severity and the occurrence of all prolonged GI symptoms.   Conclusion: Persistent GI symptoms among COVID-19 survivors after discharge or recovery raises a concern regarding the long-term impact of the COVID-19 infection on the quality of life of the survivors. Despite several potential explanations proposed, studies that aim to follow patients after recovery from COVID-19 and determine the pathogenesis of the prolonged symptoms of COVID-19 survivors are warranted.   PROSPERO registration: CRD42021239187.


2020 ◽  
Vol 3 (Supplement_1) ◽  
pp. 143-144
Author(s):  
E Abu-Farhaneh ◽  
Y Tse ◽  
C H Parker ◽  
L W Liu

Abstract Background Ehlers Danlos Syndrome (EDS) is a group of rare connective tissue disorders. Gastrointestinal (GI) symptoms such as abdominal pain, nausea, vomiting, bloating and altered bowel habits are common in patients with EDS. Specifically, disorders of gut brain interaction (DGBI) appear to be more common in this patient population. The University Health Network (UHN) has the first and only multi-disciplinary clinic, including specialized gastroenterology services, in Canada for the management of EDS. Aims The aim of this study is to describe the GI symptoms and DGBI that are present in our cohort of EDS patients. Methods A retrospective chart review of all EDS who were seen in the gastroenterologist clinic of the GoodHope EDS clinic at UHN were reviewed from November 1, 2017 to September 26, 2019. Demographic information including age, sex and EDS subtype were collected. GI symptoms that were collected include constipation, diarrhea, fecal incontinence, nausea, vomiting, bloating, abdominal pain, early satiety, heart burn, dysphagia and regurgitation. A physician made diagnosis of irritable bowel syndrome (IBS) was recorded. Descriptive statistics were performed. Results The charts of 79 EDS patients were reviewed; 4 were excluded due to missing data. 75 patients were included in the final analysis. 93.3% of patients were female with a mean age of 36.4 +/- 12.5 years. Of these 75 patients, 43 (57.3%) had EDS-hypermobile subtype, 13 (17.3%) EDS-classic, 3 (4%) EDS-vascular, 3 (4%) unknown EDS subtype and 13 (17.3%) were categorized as having a hypermobile spectrum disorder. The most common GI symptoms observed in this patient group included abdominal pain in 85.5%, bloating in 64.4%, heartburn in 61.8%, constipation in 57.9%, nausea in 50%, diarrhea 43.4%, dysphagia in 43.4%, regurgitation in 34.2%, early satiety in 32.89%, vomiting in 30.2%,and fecal incontinence in 13.1%. It was also observed that 50.7% (n=38) had a physician made diagnosis of IBS. Of these patients with IBS, 16 (42.1%) had IBS constipation, 12 (31.5%) had IBS mixed, and 10 (26.3%) had IBS diarrhea. Conclusions Our study demonstrated that GI symptoms are common in patients with EDS. In our cohort, abdominal pain is the most commonly reported GI symptom, though other various GI symptoms are also reported in high numbers. DGBI are also common, with IBS being much more common than what has been reported in the general population. Further studies are needed to better understand the pathophysiology and impact of these GI symptoms and DGBI in patients with EDS. Funding Agencies UNH Foundation Goodhope Fund


2020 ◽  
Vol 38 (6) ◽  
pp. 484-489
Author(s):  
Ray Lu ◽  
Thamer Kassim ◽  
Devashree Dave ◽  
Jagpal Singh Klair ◽  
Muhammad Ashfaq ◽  
...  

<b><i>Background/Aims:</i></b> Serious gastrointestinal (GI) pathologies are common in older adults compared to young adults (≤40 years). Data on the diagnostic yield (DY) of colonoscopy in young adults with lower GI symptoms are lacking. We aimed to evaluate the overall DY of colonoscopy; and the DY stratified by the presence or absence of bright red blood per rectum (BRBPR) in young adults ≤40 years. <b><i>Methods:</i></b> We reviewed diagnostic colonoscopies performed in young adults by 18 gastroenterologists at 2 different institutions from ­October 2016 to April 2019. Patients with familial colorectal cancer (CRC) syndromes were excluded. DY was calculated based on the proportion of abnormal colonoscopy defined as having inflammatory bowel disease (IBD), microscopic colitis (MC), advanced adenoma, or CRC. <b><i>Results:</i></b> We included 454 patients, mean (SD) age was 31 (3) years, 162 (36%) were males and mean (SD) BMI was 30 (8.5). BRBPR was the indication for colonoscopy in 194 (43%) patients, 260 (57%) patients had colonoscopy for other lower GI symptoms (abdominal pain, chronic diarrhea, constipation) but without BRBPR. Overall DY of colonoscopy in young adults with lower GI symptoms was 15%; IBD was seen in 43 (10%) patients, MC 10 (2%), and advanced neoplasia/CRC 20 (4%). Overall DY in patients with BRBPR was significantly higher than in patients without BRBPR (22 vs. 11%, <i>p</i> = 0.001). The DY for IBD was also higher in young adults with BRBPR versus without BRBPR (15 vs. 6%, <i>p</i> = 0.003). The DY of patients with both BRBPR and abdominal pain was 34%, for BRBPR and diarrhea was 40%, and for all 3 symptoms of BRBPR, diarrhea, and abdominal pain was 52%. <b><i>Conclusions:</i></b> Significant proportion of young adults with BRBPR have abnormal pathology (22%) justifying evaluation by colonoscopy. For other lower GI symptoms without BRBPR, the necessity of endoscopic evaluation should be determined clinically on a case-to-case basis due to the low overall DY.


2020 ◽  
pp. 195-197
Author(s):  
Nikhat Naaz

Background: In Dec 2019, a series of pneumonia cases were identified in Wuhan, China with presentations similar to viral pneumonia which later spread worldwide and was declared as COVID 19 Pandemic. Most common presentation were fever and respiratory symptoms and less common symptoms include GI symptoms like nausea, vomiting, abdominal pain and diarrhea. Objectives: The objective of this article is to review the gastrointestinal manifestations of COVID 19 patients and to understand its importance while diagnosing patients with COVID 19. Methodology: Pubmed database and Google scholar database were searched between Dec 2019 to June 2020 for studies including COVID 19 confirmed patients with GI symptoms. Findings: Many of these studies observed gastrointestinal symptoms like decreased appetite, diarrhea, nausea, vomiting and abdominal pain to be present in a substantial no of COVID 19 confirmed patients. Conclusions: Failure to recognize COVID 19 patients with predominant digestive symptoms may lead to undue spread of virus for a much longer period and may lead to uncontrollable dissemination of the virus. Recommendation: All COVID 19 confirmed patients should be evaluated for GI symptoms also apart from respiratory symptoms. Patients with predominantly GI symptoms should also be suspected as COVID 19 patients during the current COVID 19 pandemic phase.


Author(s):  
Shahnawaz Khatti ◽  
Riaz Ahmed Memon ◽  
Abdul Salam Memon ◽  
Fazila Hashmi ◽  
Sandesh Kumar ◽  
...  

Objective: To determine the frequency and presentation of colorectal carcinoma (CRC) among the patients presenting with lower gastrointestinal (GI) symptoms. Study Design: Observational study Place and Duration: Department of Surgery, Liaquat University of Medical and Health Sciences, Jamshoro/Hyderabad from January 2013 to February 2014. Methodology: A sample of 105 patients complaining of lower GI symptoms was selected. Data regarding the age, sex, presenting symptoms and signs, local examination and location of lesions were noted in a pre-structured proforma. Patients were examined by digital rectal examination (DRE), proctoscopy, colonoscopy; computerized tomography and biopsy. Data analyzed on SPSS 21.0 at 95% CI (P≤ 0.05). Results: Age of the patients was 53.17±14.90 years (95%CI: 51.28 to 55.05). Of 105 subjects; 65 (61.9%) were males and 40 (38.09%) were females. The CRC was observed in 11 (10.47%) patients of ≤ 40 years, 77 (73.3%) patients of 40 – 59.9 years and 17 (16.19%) cases were ≥60 years of age. Anemia 81 (77.14%), weight loss 74 (70.47%), abdominal pain 60 (57.14%), bleeding per rectum 79 (75.23%), tenesmus 55 (52.38%) and constipation 48 (45.71%) were common presenting symptoms of the CRC patients. Adenocarcinoma was found in 87 (82.85%), carcinoid tumor in 11 (10.47%), lymphoma in 5 (4.76%) and squamous cell carcinoma in 2 (1.9%). Conclusion: Colorectal adenocarcinoma was most common tumor found in males in their sixth decade of life. Anemia, weight loss, abdominal pain and bleeding per rectum were common clinical symptoms and rectum was common tumor site.


2021 ◽  
Author(s):  
Michael Maes ◽  
Walton Luiz Del Tedesco Junior ◽  
Marcell Lozovoy ◽  
Mayara Mori ◽  
Tiago Danelli ◽  
...  

Background: In COVID-19, the NLRP3 inflammasome is activated in response to SARS-CoV-2 infection. Acute infections are accompanied by a sickness symptom complex (SSC) which is a highly conserved symptom complex that protects against infections and hyperinflammation. Aims: To examine the associations of COVID-19, SSC and the NLPR3 rs10157379 T>C and NLPR3 rs10754558 C>G SNV variants; and the protective role of SSC in severe acute respiratory syndrome (SARS)-CoV-2 infection. Methods: We recruited COVID-19 patients, 308 with critical, 63 with moderate and 157 with mild disease. Results: Increased SSC protects against SARS, critical disease, and death due to COVID-19. Increasing age, male sex and rs10754558 CG significantly predict reduced SSC protection. The rs10157379 CT and rs10754558 GG genotypes are positively associated with SARS. Partial Least Squares analysis shows a) that 41.8% of the variance in critical COVID-19 symptoms could be explained by SSC and oxygen saturation (inversely associated), and inflammation, chest computed tomography abnormalities, increased body mass index, SARS and age (positively associated); and b) the effects of the NLRP3 rs10157379 and rs10754558 variants on critical COVID-19 are mediated via SSC (protective) and SARS (detrimental). SSC includes anosmia, dysgeusia and gastrointestinal symptoms. Conclusions: Intersections among the rs10754558 variant, age, and sex increase risk towards critical COVID-19 by attenuating SSC. NLRP3 variants play an important role in SARS, and severe and critical COVID-19 especially in individuals with reduced SSC, elderly people, and those with increased BMI, hypertension, and diabetes type 2. SSC is a new drug target to combat acute COVID-19.


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