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Crohn & #39;s Disease Presenting as Metabolic Myopathy: A Case Report
We report a 20-yearr-old lady who presented with a painful proximal myopathy. On examination, she was malnourished with pallor, angular cheilitis, Bitots spots, and bilateral pitting pedal edema. Laboratory evaluation showed iron deficiency anemia, hypoalbuminemia, and very low vitamin D levels with elevated creatine phosphokinase levels. A possibility of osteomalacic metabolic myopathy due to vitamin D deficiency was considered. The malabsorption workup was negative. A colonoscopic biopsy showed noncaseating granulomatous inflammation suggestive of Crohn's disease. With supplementary therapy and specific treatm...
Source: Neurology India - July 1, 2022 Category: Neurology Authors: Sabu Kunnathuparambil George Neena Baby Prasanth Varghese Thalakottur Kuriakose Joseph Source Type: research

Current Diagnosis and Management of Abetalipoproteinemia
J Atheroscler Thromb. 2021 May 16. doi: 10.5551/jat.RV17056. Online ahead of print.ABSTRACTAbetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a vari...
Source: Journal of Atherosclerosis and Thrombosis - May 17, 2021 Category: Cardiology Authors: Manabu Takahashi Hiroaki Okazaki Ken Ohashi Masatsune Ogura Shun Ishibashi Sachiko Okazaki Satoshi Hirayama Mika Hori Kota Matsuki Shinji Yokoyama Mariko Harada-Shiba Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Dis Source Type: research

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism
ABSTRACTThe metabolism of sulfur-containing amino acids (SAAs) requires an orchestrated interplay among several dozen enzymes and transporters, and an adequate dietary intake of methionine (Met), cysteine (Cys), and B vitamins. Known human genetic disorders are due to defects in Met demethylation, homocysteine (Hcy) remethylation, or cobalamin and folate metabolism, in Hcy transsulfuration, and Cys and hydrogen sulfide (H2S) catabolism. These disorders may manifest between the newborn period and late adulthood by a combination of neuropsychiatric abnormalities, thromboembolism, megaloblastic anemia, hepatopathy, myopathy, ...
Source: Journal of Nutrition - October 1, 2020 Category: Nutrition Source Type: research

Recent progress in Gene Therapy and Other Targeted Therapeutic Approaches for Beta Thalassemia.
Abstract Thalassemia syndromes are a group of inherited blood disorders caused by limitation or absence of alpha or beta- globin chain synthesis resulting in ineffective erythropoiesis and chronic hemolytic anemia. According to the clinical fact of thalassemia as recessive autosomal, thalassemia divided into alpha and beta thalassemia. The main complication of beta thalassemia is excessive red blood cells destruction, oxidative stress, extramedullary hematopoiesis pseudotumors, hemosiderosis-induced organ dysfunction, malignancy, polyneuropathy, myopathy, osteoporosis, and leg ulcers. Although, the first obligator...
Source: Current Drug Targets - July 25, 2019 Category: Drugs & Pharmacology Authors: Hamed EM, Meabed MH, Aly UF, Hussein RRS Tags: Curr Drug Targets Source Type: research

Neurologic conditions and disorders of uremic syndrome of chronic kidney disease: Presentations, causes and treatment strategies.
Authors: Hamed SA Abstract INTRODUCTION: Uremic syndrome of chronic kidney disease (CKD) is a term used to describe clinical, metabolic and hormonal abnormalities associated with progressive kidney failure. It is a rapidly growing public health problem worldwide. Nervous system complications occur in every patient with uremic syndrome of CKD. Areas covered: This review summarized central and peripheral nervous system complications of uremic syndrome of CKD and their pathogenic mechanisms. They include cognitive deterioration, encephalopathy, seizures, asterixis, myoclonus, restless leg syndrome, central pontine mye...
Source: Expert Review of Clinical Pharmacology - December 7, 2018 Category: Drugs & Pharmacology Tags: Expert Rev Clin Pharmacol Source Type: research

Myopathy: Effect of Vitamin D Deficiency Beyond Bones.
We report the case of a middle aged female with chronic quadriparesis and new onset anemia associated with Vitamin D deficiency. Patient responded to vitamin D supplementation alone. PMID: 29319256 [PubMed - in process]
Source: Journal of the Association of Physicians of India - January 11, 2018 Category: General Medicine Tags: J Assoc Physicians India Source Type: research

Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research