Enteroscopic diagnosis of intestinal malabsorption of a rare etiology: diaphragm disease.

We present the case of a 59-year-old patient with malabsorption syndrome which started with polyneuropathy. Capsule endoscopy and enteroscopy show villous denudation. Histological study confirms diaphragm disease of the small bowel. Diaphragm disease is a rare disease characterized by the presence of multiple thin diaphragms, such as septa, that narrow the intestinal lumen. The clinical features can be iron deficiency anemia, intestinal obstruction, change in bowel habits or acute abdomen secondary to perforation. It is usually generally with sustained use of high doses of non-steroidal anti-inflammatory drugs. The diagnosis usually requires the use of a capsule endoscopy or enteroscopy with biopsies. PMID: 32054283 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research

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Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by systemic thrombotic microangiopathy (TMA) reflected by hemolysis, anemia, thrombocytopenia and systemic organ injury. The optimal ma...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Case report Source Type: research
Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia. Nearly 150 causative...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
Abstract PURPOSE OF REVIEW: The purpose of this report is to review recent research findings on APS in children and neonates. RECENT FINDINGS: European evidence-based recommendations for diagnosis and treatment of pediatric APS has recently been published by the SHARE Initiative. Recent studies have shown a high prevalence of non-thrombotic manifestations in children with aPL, domains 4/5 specificity of 'innocent' anti-β2GPI antibodies in infants, and a higher risk for developmental delays and learning disabilities, hence, the need for neurodevelopmental monitoring in children born to mothers with APS. A...
Source: Epilepsy Curr - Category: Neurology Authors: Tags: Curr Rheumatol Rep Source Type: research
AbstractPurpose of ReviewThe purpose of this report is to review recent research findings on APS in children and neonates.Recent FindingsEuropean evidence-based recommendations for diagnosis and treatment of pediatric APS has recently been published by the SHARE Initiative. Recent studies have shown a high prevalence of non-thrombotic manifestations in children with aPL, domains 4/5 specificity of ‘innocent’ anti-β2GPI antibodies in infants, and a higher risk for developmental delays and learning disabilities, hence, the need for neurodevelopmental monitoring in children born to mothers with APS. An Intern...
Source: Current Rheumatology Reports - Category: Rheumatology Source Type: research
This study investigated whether elevated RDW is causally associated with PAH. A two-sample Mendelian randomisation (MR) approach was applied to investigate whether genetic predisposition to higher levels of RDW increases the odds of developing PAH. Primary and secondary MR analyses were performed using all available genome-wide significant RDW variants (n=179) and five genome-wide significant RDW variants that act via systemic iron status, respectively. We confirmed the observed association between RDW and PAH (OR 1.90, 95% CI 1.80–2.01) in a multicentre case–control study (cases n=642, disease controls n=15 88...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Genetics, Pulmonary vascular disease Original Articles: Pulmonary vascular disease Source Type: research
CONCLUSIONS: Our data present a complete preclinical analysis and promising therapeutic line of the first FDA/EMA approved anticancer drugs exerting cancer specific toxicity for HNSCC in FA patients. PMID: 32005748 [PubMed - as supplied by publisher]
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
ConclusionThe atypical hemolytic uremic syndrome is a rare disease entity requiring a high index of suspicion to diagnose. It is a diagnosis of exclusion. Early diagnosis with prompt treatment will render a better outcome. The atypical hemolytic uremic syndrome needs to be considered in all patients with thrombotic microangiopathy.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Publication date: Available online 10 January 2020Source: Journal of Pediatric Surgery Case ReportsAuthor(s): Shuji Nakamoto, Kiyoshi Tanaka, Eiichiro Watanabe, Noriko Takeda, Takatoshi Nakamura, Yusuke KumamotoAbstractColorectal cancer is a rare disease in children. It is often diagnosed at an advanced stage, meaning that these patients often require a multidisciplinary treatment approach. This is a case report of advanced cecal cancer in a teenager who was treated with cytoreductive surgery and long-term chemotherapy with molecular targeted agents.A previously healthy 15-year-old boy was referred to our hospital with a t...
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
Autoimmune hemolytic anemia (AIHA) is a rare disease in which autoantibodies target red blood cells (RBCs), leading to anemia that ranges from no symptoms to severe life-threatening hemolysis. Little is known about the severity of anemia, blood transfusion efficiency and risk of transfusion-related reactions among hospitalized AIHA patients, especially in those with incompatible RBC transfusions. A retrospective study was conducted among hospitalized AIHA patients from January 2009 to December 2015 in a large tertiary care medical center in southwest China. A total of 450 AIHA hospitalized patients were recruited, of who...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish po...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
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