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deficient intestinal absorption syndrome

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https://www.readbyqxmd.com/read/29875123/establishing-the-role-of-plvap-in-protein-losing-enteropathy-a-homozygous-missense-variant-leads-to-an-attenuated-phenotype
#1
EDITORIAL
Alina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, Katya Dolnikov, Adi Mory, Tamar Paperna, Tova Hershkovitz, John D Overton, Marielle Kaplan, Fabian Glaser, Yaniv Zohar, Alan R Shuldiner, Gidon Berger, Hagit N Baris
BACKGROUND: Intestinal integrity is essential for proper nutrient absorption and tissue homeostasis, with damage leading to enteric protein loss, that is, protein-losing enteropathy (PLE). Recently, homozygous nonsense variants in the plasmalemma vesicle-associated protein gene ( PLVAP ) were reported in two patients with severe congenital PLE. PLVAP is the building block of endothelial cell (EC) fenestral diaphragms; its importance in barrier function is supported by mouse models of Plvap deficiency...
June 6, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29859847/altered-pancreatic-islet-morphology-and-function-in-sglt1-knockout-mice-on-a-glucose-deficient-fat-enriched-diet
#2
Markus Mühlemann, Daniela Zdzieblo, Alexandra Friedrich, Constantin Berger, Christoph Otto, Heike Walles, Hermann Koepsell, Marco Metzger
OBJECTIVES: Glycemic control by medical treatment represents one therapeutic strategy for diabetic patients. The Na+-d-glucose cotransporter 1 (SGLT1) is currently of high interest in this context. SGLT1 is known to mediate glucose absorption and incretin secretion in the small intestine. Recently, inhibition of SGLT1 function was shown to improve postprandial hyperglycemia. In view of the lately demonstrated SGLT1 expression in pancreatic islets, we investigated if loss of SGLT1 affects islet morphology and function...
July 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29669261/chrebp-deficiency-leads-to-diarrhea-predominant-irritable-bowel-syndrome
#3
Ah-Reum Oh, Seonyong Sohn, Junghoon Lee, Jong-Min Park, Ki Taek Nam, Ki-Baik Hahm, Young-Bum Kim, Ho-Jae Lee, Ji-Young Cha
OBJECTIVE: Fructose malabsorption is a common digestive disorder in which absorption of fructose in the small intestine is impaired. An abnormality of the main intestinal fructose transporter proteins has been proposed as a cause for fructose malabsorption. However the underlying molecular mechanism for this remains unclear. In this study, we investigated whether carbohydrate response element-binding protein (ChREBP) plays a role in intestinal fructose absorption through the regulation of genes involved in fructose transport and metabolism and ion transport...
August 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29505151/single-center-experience-with-the-use-of-teduglutide-in-adult-patients-with-short-bowel-syndrome
#4
Kwai Lam, Lauren Schwartz, Jennifer Batisti, Kishore R Iyer
BACKGROUND: Teduglutide is a glucagon-like peptide 2 (GLP-2) analog that has been approved for the treatment of adult short bowel syndrome (SBS)-associated intestinal failure (IF; SBS-IF). Teduglutide increases villus height and crypt depth in the small bowel mucosa, promoting nutrition absorption and enteral independence from parenteral nutrition (PN). We aim to report our single-center experience with teduglutide in adult patients with SBS to provide real-world context to its use. METHOD: We conducted a retrospective analysis on patients managed within our tertiary-level intestinal rehabilitation program to identify patients with SBS-IF treated with teduglutide from 2009-2015...
January 2018: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29490937/management-of-endocrine-disease-pitfalls-on-the-replacement-therapy-for-primary-and-central-hypothyroidism-in-adults
#5
REVIEW
Gisah Amaral de Carvalho, Gilberto Paz-Filho, Cleo Mesa Junior, Hans Graf
Hypothyroidism is one of the most common hormone deficiencies in adults. Most of the cases, particularly those of overt hypothyroidism, are easily diagnosed and managed, with excellent outcomes if treated adequately. However, minor alterations of thyroid function determine nonspecific manifestations. Primary hypothyroidism due to chronic autoimmune thyroiditis is largely the most common cause of thyroid hormone deficiency. Central hypothyroidism is a rare and heterogeneous disorder characterized by decreased thyroid hormone secretion by an otherwise normal thyroid gland, due to lack of TSH...
June 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29480918/role-of-magnesium-in-vitamin-d-activation-and-function
#6
Anne Marie Uwitonze, Mohammed S Razzaque
Nutrients usually act in a coordinated manner in the body. Intestinal absorption and subsequent metabolism of a particular nutrient, to a certain extent, is dependent on the availability of other nutrients. Magnesium and vitamin D are 2 essential nutrients that are necessary for the physiologic functions of various organs. Magnesium assists in the activation of vitamin D, which helps regulate calcium and phosphate homeostasis to influence the growth and maintenance of bones. All of the enzymes that metabolize vitamin D seem to require magnesium, which acts as a cofactor in the enzymatic reactions in the liver and kidneys...
March 1, 2018: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/29428098/pathophysiological-consequences-of-obstructive-jaundice-and-perioperative-management
#7
REVIEW
Efstathios T Pavlidis, Theodoros E Pavlidis
BACKGROUND: Obstructive jaundice is a common problem in daily clinical practice. Understanding completely the pathophysiological changes in obstructive jaundice remains a challenge for planning current and future management. DATA SOURCES: A PubMed was searched for relevant articles published up to August 2016. The effect of obstructive jaundice on proinflammatory cytokines, coagulation status, hemodynamics and organ functions were evaluated. RESULTS: The effects of obstructive jaundice included biliary tree, the hepatic cell and liver function as well as systemic complications...
February 2018: Hepatobiliary & Pancreatic Diseases International: HBPD INT
https://www.readbyqxmd.com/read/29286303/disturbed-vitamin-a-metabolism-in-non-alcoholic-fatty-liver-disease-nafld
#8
REVIEW
Ali Saeed, Robin P F Dullaart, Tim C M A Schreuder, Hans Blokzijl, Klaas Nico Faber
Vitamin A is required for important physiological processes, including embryogenesis, vision, cell proliferation and differentiation, immune regulation, and glucose and lipid metabolism. Many of vitamin A's functions are executed through retinoic acids that activate transcriptional networks controlled by retinoic acid receptors (RARs) and retinoid X receptors (RXRs).The liver plays a central role in vitamin A metabolism: (1) it produces bile supporting efficient intestinal absorption of fat-soluble nutrients like vitamin A; (2) it produces retinol binding protein 4 (RBP4) that distributes vitamin A, as retinol, to peripheral tissues; and (3) it harbors the largest body supply of vitamin A, mostly as retinyl esters, in hepatic stellate cells (HSCs)...
December 29, 2017: Nutrients
https://www.readbyqxmd.com/read/28241431/the-role-of-carbohydrate-response-element-binding-protein-in-intestinal-and-hepatic-fructose-metabolism
#9
REVIEW
Katsumi Iizuka
Many articles have discussed the relationship between fructose consumption and the incidence of obesity and related diseases. Fructose is absorbed in the intestine and metabolized in the liver to glucose, lactate, glycogen, and, to a lesser extent, lipids. Unabsorbed fructose causes bacterial fermentation, resulting in irritable bowl syndrome. Therefore, understanding the mechanisms underlying intestinal and hepatic fructose metabolism is important for the treatment of metabolic syndrome and fructose malabsorption...
February 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28225873/alert-for-bone-alterations-and-low-serum-concentrations-of-vitamin-d-in-patients-with-intestinal-inflammatory-disease
#10
Lorete Maria da Silva Kotze, Carolina Tabata Costa, Murilo Franco Cavassani, Renato Mitsunori Nisihara
BACKGROUND: Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are characterized by chronic inflammation of the intestine that can reduce the absorption of nutrients such as vitamin D and calcium. OBJECTIVE: To investigate bone alterations and serum levels of vitamin D in patients with IBD. METHOD: This was a cross-sectional study based on a review of medical records of patients from a private office in Curitiba, PR, Brazil...
January 1, 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28122695/environmental-enteric-dysfunction-is-associated-with-carnitine-deficiency-and-altered-fatty-acid-oxidation
#11
Richard D Semba, Indi Trehan, Ximin Li, Ruin Moaddel, M Isabel Ordiz, Kenneth M Maleta, Klaus Kraemer, Michelle Shardell, Luigi Ferrucci, Mark Manary
BACKGROUND: Environmental enteric dysfunction (EED), a condition characterized by small intestine inflammation and abnormal gut permeability, is widespread in children in developing countries and a major cause of growth failure. The pathophysiology of EED remains poorly understood. METHODS: We measured serum metabolites using liquid chromatography-tandem mass spectrometry in 400 children, aged 12-59months, from rural Malawi. Gut permeability was assessed by the dual-sugar absorption test...
March 2017: EBioMedicine
https://www.readbyqxmd.com/read/28053676/medium-chain-triglycerides-mct-formulas-in-paediatric-and-allergological-practice
#12
REVIEW
Ewa Łoś-Rycharska, Zuzanna Kieraszewicz, Mieczysława Czerwionka-Szaflarska
Fats constitute the most significant nutritional source of energy. Their proper use by the body conditions a number of complex mechanisms of digestion, absorption, distribution, and metabolism. These mechanisms are facilitated by fats made of medium chain fatty acids; therefore, they are an easy and quick source of energy. Thus, an increased supply of medium chain triglycerides (MCT) is particularly important in patients with disturbances of digestion and absorption such as disturbed bile secretion, classic coeliac disease, short bowel syndrome, inflammatory diseases of the intestines, disturbed outflow of lymph, some metabolic disease, and severe food allergies, as well as in prematurely born neonates...
2016: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/27629586/diagnostic-copper-imaging-of-menkes-disease-by-synchrotron-radiation-generated-x-ray-fluorescence-analysis
#13
Miyuki Kinebuchi, Akihiro Matsuura, Tohru Kiyono, Yumiko Nomura, Sachiko Kimura
Copper (Cu) is an indispensable metal for normal development and function of humans, especially in central nervous system (CNS). However, its redox activity requires accurate Cu transport system. ATP7A, a main Cu(2+) transporting-ATPase, is necessary to efflux Cu across the plasma membrane and synthesize cuproenzymes. Menkes disease (MD) is caused by mutations in ATP7A gene. Clinically, MD is Cu deficiency syndrome and is treated with Cu-histidine injections soon after definite diagnosis. But outcome of the most remains poor...
September 15, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27157990/epithelial-pik3r1-p85-and-tp53-regulate-survivin-expression-during-adaptation-to-ileocecal-resection
#14
Valeria Cohran, Elizabeth Managlia, Emily M Bradford, Tatiana Goretsky, Ting Li, Rebecca B Katzman, Paul Cheresh, Jeffrey B Brown, Jennifer Hawkins, Shirley X L Liu, Isabelle G De Plaen, Jörn-Hendrik Weitkamp, Michael Helmrath, Zheng Zhang, Terrence A Barrett
Intestinal adaptation to small-bowel resection (SBR) after necrotizing enterocolitis expands absorptive surface areas and promotes enteral autonomy. Survivin increases proliferation and blunts apoptosis. The current study examines survivin in intestinal epithelial cells after ileocecal resection. Wild-type and epithelial Pik3r1 (p85α)-deficient mice underwent sham surgery or 30% resection. RNA and protein were isolated from small bowel to determine levels of β-catenin target gene expression, activated caspase-3, survivin, p85α, and Trp53...
July 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27086886/acquired-causes-of-intestinal-malabsorption
#15
REVIEW
F van der Heide
This review focuses on the acquired causes, diagnosis, and treatment of intestinal malabsorption. Intestinal absorption is a complex process that depends on many variables, including the digestion of nutrients within the intestinal lumen, the absorptive surface of the small intestine, the membrane transport systems, and the epithelial absorptive enzymes. Acquired causes of malabsorption are classified by focussing on the three phases of digestion and absorption: 1) luminal/digestive phase, 2) mucosal/absorptive phase, and 3) transport phase...
April 2016: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/27086884/definitions-of-intestinal-failure-and-the-short-bowel-syndrome
#16
REVIEW
Loris Pironi
The European Society for Clinical Nutrition and Metabolism defined intestinal failure (IF) as "the reduction of gut function below the minimum necessary for the absorption of macronutrients and/or water and electrolytes, such that intravenous supplementation is required to maintain health and/or growth". IF is classified as type 1-acute, type 2-prolonged acute and type 3-chronic IF. A short bowel syndrome (SBS) due to the intestinal malabsorption associated with a functional small intestine length of less than 200 cm is the most frequent mechanism of IF...
April 2016: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/27035186/metabolic-consequences-of-total-colectomy
#17
S U Christl, W Scheppach
Colectomy is performed for inflammatory bowel disease, familial polyposis syndrome and colorectal carcinoma. Surgical procedures are ileostomy with or without pouch, ileorectal anastomosis or ileal pouchanal anastomosis. One of the major functions of the intact large intestine is to absorb water and electrolytes. After colectomy, as much as 400-1000 ml of nearly isotonic ileostomy fluid may be excreted, resulting in a chronic salt and water depletion. This is compensated for by an activation of the reninangiotensin-aldosterone system...
1997: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/26976849/slc52a3-a-brown-vialetto-van-laere-syndrome-candidate-gene-is-essential-for-mouse-development-but-dispensable-for-motor-neuron-differentiation
#18
Atsushi Intoh, Naoki Suzuki, Kathryn Koszka, Kevin Eggan
Riboflavin, also known as vitamin B2, is essential for cellular reduction-oxidation reactions, but is not readily synthesized by mammalian cells. It has been proposed that riboflavin absorption occurs through solute carrier family 52 members (SLC52) A1, A2 and A3. These transporters are also candidate genes for the childhood onset-neural degenerative syndrome Brown-Vialetto-Van Laere (BVVL). Although riboflavin is an essential nutrient, why mutations in its transporters result in a neural cell-specific disorder remains unclear...
May 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/26926994/intestinal-microbiota-sustains-inflammation-and-autoimmunity-induced-by-hypomorphic-rag-defects
#19
Rosita Rigoni, Elena Fontana, Simone Guglielmetti, Bruno Fosso, Anna Maria D'Erchia, Virginia Maina, Valentina Taverniti, Maria Carmina Castiello, Stefano Mantero, Giovanni Pacchiana, Silvia Musio, Rosetta Pedotti, Carlo Selmi, J Rodrigo Mora, Graziano Pesole, Paolo Vezzoni, Pietro Luigi Poliani, Fabio Grassi, Anna Villa, Barbara Cassani
Omenn syndrome (OS) is caused by hypomorphic Rag mutations and characterized by a profound immunodeficiency associated with autoimmune-like manifestations. Both in humans and mice, OS is mediated by oligoclonal activated T and B cells. The role of microbial signals in disease pathogenesis is debated. Here, we show that Rag2(R229Q) knock-in mice developed an inflammatory bowel disease affecting both the small bowel and colon. Lymphocytes were sufficient for disease induction, as intestinal CD4 T cells with a Th1/Th17 phenotype reproduced the pathological picture when transplanted into immunocompromised hosts...
March 7, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/26860932/complications-and-surveillance-after-bariatric-surgery
#20
Seth J Concors, Brett L Ecker, Richard Maduka, Alyssa Furukawa, Steven E Raper, Daniel D Dempsey, Noel N Williams, Kristoffel R Dumon
Bariatric surgery represents a durable and safe treatment modality for morbid obesity. Bariatric surgery results in weight loss by one of two-and possibly both-primary mechanisms, reducing the amount of tolerable intake (restrictive) and reducing the amount of nutrients absorbed by bypassing absorptive intestine (malabsorptive). These procedures have consistently demonstrated superior resolution of obesity and many associated co-morbid conditions as compared to medical management. Beyond the periprocedural complications of surgery, there are longitudinal risks such as weight regain, anatomic complications, and micronutrient deficiencies...
January 2016: Current Treatment Options in Neurology
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