The Experts below are selected from a list of 219 Experts worldwide ranked by ideXlab platform
Neeraj Kumar - One of the best experts on this subject based on the ideXlab platform.
-
copper deficiency myelopathy human Swayback
Mayo Clinic proceedings, 2006Co-Authors: Neeraj KumarAbstract:The hematologic manifestations of copper deficiency are well known and include anemia and neutropenia. In the past few years, the neurological manifestations of acquired copper deficiency in humans has been recognized, the most common being a myelopathy presenting with a spastic gait and prominent sensory ataxia. The known causes of acquired copper deficiency include prior gastric surgery, excessive zinc ingestion, and malabsorption; however, often the cause is unclear. Hyperzincemia may be present even in the absence of exogenous zinc ingestion. The clinical features and neuroimaging findings are similar to the subacute combined degeneration seen in patients with vitamin B12 deficiency. Copper and vitamin B12 deficiency may coexist. The neurological syndrome may be present without the hematologic manifestations. Copper supplementation resolves the anemia and neutropenia promptly and completely and may prevent the neurological deterioration. Improvement, when it occurs, is often subjective and preferentially involves sensory symptoms. This article describes patients with copper deficiency myelopathy seen at the Mayo Clinic in Rochester, Minn, and reviews the literature on neurological manifestations of acquired copper deficiency in humans.
-
myeloneuropathy and anemia due to copper malabsorption
Journal of Neurology, 2004Co-Authors: Neeraj Kumar, Phillip A LowAbstract:Dietary deficiency of copper results in a progressive ataxic myelopathy in ruminants called Swayback. Menkes disease is a human disease due to an inherited defect in copper absorption; survival into adulthood is typically not known to occur. We report a 63-year-old woman who was evaluated by us for a myeloneuropathy that occurred in the setting of copper malabsorption. Her neurological deterioration stopped with copper supplementation. The limited literature on neurological manifestations of acquired copper deficiency suggests that the clinical presentation resembles the myeloneuropathy seen with vitamin B12 deficiency.
-
Myelopathy Due to Copper Deficiency Following Gastrointestinal Surgery
Archives of Neurology, 2003Co-Authors: Neeraj Kumar, Kathleen M. Mcevoy, J. Eric AhlskogAbstract:Background Ataxic myelopathy due to copper deficiency has been described in ruminant animals and is called Swayback. Neurological manifestations due to inherited copper deficiency secondary to the failure of intestinal copper absorption is well recognized as Menkes disease. The neurological consequences of acquired copper deficiency in humans are not well described. Objective To report 2 cases where patients developed a myelopathy with copper deficiency after gastrointestinal surgery. Patients Two patients developed a myelopathy many years after gastrointestinal surgery. Both had severe copper deficiency, which was the likely cause of the myelopathy. Conclusions Acquired copper deficiency may present as a myelopathy. Gastrointestinal surgery and resulting decreased copper absorption may be causative.
-
myelopathy due to copper deficiency
Neurology, 2003Co-Authors: Neeraj Kumar, John B Gross, Eric J AhlskogAbstract:Copper is an essential trace metal and plays key roles in the structure and function of the nervous system, vascular, and skeletal tissues and in hematopoiesis and catecholamine metabolism. Inherited copper deficiency (Menkes’ disease) results in intellectual deterioration, failure to thrive, seizures, abnormal hair, and connective tissue abnormalities. Due to the ubiquitous distribution of copper and the low daily requirement, acquired copper deficiency is extremely rare in humans. Ataxic myelopathy due to copper deficiency does occur in ruminants and is called Swayback.1 The hematologic manifestations of acquired copper deficiency are well described,2 but the neurologic manifestations of acquired copper deficiency in humans are not widely appreciated. We describe a case of myelopathy that occurred in the setting of copper deficiency. A 65-year-old man was evaluated for a 5-year history of progressive gait difficulty. For 1 year prior to evaluation, he had been using a cane and had paresthesias involving the feet and hands. He had been taking 200 to 400 mg of zinc a day for cold prevention for 22 years (recommended daily allowance of zinc, 15 mg/day). Neurologic examination …
Royden H Jones - One of the best experts on this subject based on the ideXlab platform.
-
severe ataxia myelopathy and peripheral neuropathy due to acquired copper deficiency in a patient with history of gastrectomy
Journal of Parenteral and Enteral Nutrition, 2006Co-Authors: Jeremias C Tan, David L Burns, Royden H JonesAbstract:Background: In animal studies, copper absorption has been demonstrated to occur in the proximal gut via duodenal enterocytes. Acquired copper deficiency is known as “Swayback” in ruminant animals and Menkes' disease in humans. Copper is an essential micronutrient necessary for the hematologic and neurologic systems. Acquired copper deficiency in humans has been described, causing a syndrome similar to the subacute combined degeneration of vitamin B12 deficiency. Methods: This is a single case report. Our patient developed a neurologic constellation of ataxia, myelopathy, and peripheral neuropathy similar to vitamin B12 deficiency many years after gastrectomy for severe peptic ulcer disease. The patient was maintained for decades with enteral feedings via jejunostomy that provided the recommended dietary allowance (RDA) for copper. Results: Copper deficiency was suspected, identified, and treated. Over 3 months of follow-up, serum copper levels increased from 4 μg/dL to 20 μg/dL (70–150 μg/dL), and cerulop...
E Bailey - One of the best experts on this subject based on the ideXlab platform.
-
genetics of Swayback in american saddlebred horses
Animal Genetics, 2010Co-Authors: Deborah J. Cook, P C Gallagher, E BaileyAbstract:Summary Extreme lordosis, also called Swayback, lowback or softback, can occur as a congenital traitor as a degenerative trait associated with ageing. In this study, the hereditary aspect ofcongenital Swayback was investigated using whole genome association studies of 20affected and 20 unaffected American Saddlebred (ASB) Horses for 48 165 single-nucleotidepolymorphisms (SNPs). A statistically significant association was identified on ECA20(corrected P = 0.017) for SNP BIEC2-532523. Of the 20 affected horses, 17 were homo-zygous for this SNP when compared to seven homozygotes among the unaffected horses,suggesting a major gene with a recessive mode of inheritance. The result was confirmed bytesting an additional 13 affected horses and 166 unaffected horses using 35 SNPs in thisregion of ECA20 (corrected P = 0.036). Combined results for 33 affected horses and 287non-affected horses allowed identification of a region of homozygosity defined by four SNPsin the region. Based on the haplotype defined by these SNPs, 80% of the 33 affected horseswere homozygous, 21% heterozygous and 9% did not possess the haplotype. Among thenon-affected horses, 15% were homozygous, 47% heterozygous and 38% did not possess thehaplotype. The differences between the two groups were highly significant (P < 0.00001).The region defined by this haplotype includes 53 known and predicted genes. Exons fromthree candidate genes, TRERF1, RUNX2 and CNPY3 were sequenced without finding dis-tinguishing SNPs. The mutation responsible for Swayback may lie in other genes or inregulatory regions outside exons. This information can be used by breeders to reduce theoccurrence of Swayback among their livestock. This condition may serve as a model forinvestigation of congenital skeletal deformities in other species.Keywords equine, lordosis, single-nucleotide polymorphisms, whole genome scanning.
David M Chascsa - One of the best experts on this subject based on the ideXlab platform.
-
exogenous copper exposure causing clinical wilson disease in a patient with copper deficiency
BMC Gastroenterology, 2021Co-Authors: Blanca Lizaolamayo, Rolland C Dickson, Dora Lamhimlin, David M ChascsaAbstract:Human Swayback is a disease characterized by acquired copper deficiency which primarily manifests as myeloneuropathy. Common causes include malabsorptive disorders, gastric surgery, total parenteral nutrition and excessive zinc intake. In contrast, copper supplementation should be closely monitored as excessive doses can lead to acute intoxication and in chronic cases, cirrhosis. Copper derangements are rare, however it is important to consider them due to potential severe complications. We present a middle-aged man who had been previously diagnosed with Human Swayback after presenting with various neurological symptoms. The patient was subsequently placed on copper supplementation. A decade later, he was referred to our hospital for liver transplant evaluation due to new diagnosis of decompensated end-stage liver disease after an abdominal surgery. His initial workup was suggestive of Wilson disease—subsequent ATP7B gene was negative. Ultimately, the patient underwent liver transplantation; liver explant was significant for a copper dry weight concentration of 5436 mcg/g. Human Swayback is a very rare copper-related disease which deserves awareness due to its potential irreversible health effects in the human body. Additionally, in patients who require copper supplementation, serial levels should be monitored to ensure adequate copper levels.
-
Exogenous copper exposure causing clinical wilson disease in a patient with copper deficiency
'Springer Science and Business Media LLC', 2021Co-Authors: Blanca C. Lizaola-mayo, Rolland C Dickson, Dora M. Lam-himlin, David M ChascsaAbstract:Abstract Background Human Swayback is a disease characterized by acquired copper deficiency which primarily manifests as myeloneuropathy. Common causes include malabsorptive disorders, gastric surgery, total parenteral nutrition and excessive zinc intake. In contrast, copper supplementation should be closely monitored as excessive doses can lead to acute intoxication and in chronic cases, cirrhosis. Copper derangements are rare, however it is important to consider them due to potential severe complications. Case presentation We present a middle-aged man who had been previously diagnosed with Human Swayback after presenting with various neurological symptoms. The patient was subsequently placed on copper supplementation. A decade later, he was referred to our hospital for liver transplant evaluation due to new diagnosis of decompensated end-stage liver disease after an abdominal surgery. His initial workup was suggestive of Wilson disease—subsequent ATP7B gene was negative. Ultimately, the patient underwent liver transplantation; liver explant was significant for a copper dry weight concentration of 5436 mcg/g. Conclusions Human Swayback is a very rare copper-related disease which deserves awareness due to its potential irreversible health effects in the human body. Additionally, in patients who require copper supplementation, serial levels should be monitored to ensure adequate copper levels
Eric J Ahlskog - One of the best experts on this subject based on the ideXlab platform.
-
myelopathy due to copper deficiency
Neurology, 2003Co-Authors: Neeraj Kumar, John B Gross, Eric J AhlskogAbstract:Copper is an essential trace metal and plays key roles in the structure and function of the nervous system, vascular, and skeletal tissues and in hematopoiesis and catecholamine metabolism. Inherited copper deficiency (Menkes’ disease) results in intellectual deterioration, failure to thrive, seizures, abnormal hair, and connective tissue abnormalities. Due to the ubiquitous distribution of copper and the low daily requirement, acquired copper deficiency is extremely rare in humans. Ataxic myelopathy due to copper deficiency does occur in ruminants and is called Swayback.1 The hematologic manifestations of acquired copper deficiency are well described,2 but the neurologic manifestations of acquired copper deficiency in humans are not widely appreciated. We describe a case of myelopathy that occurred in the setting of copper deficiency. A 65-year-old man was evaluated for a 5-year history of progressive gait difficulty. For 1 year prior to evaluation, he had been using a cane and had paresthesias involving the feet and hands. He had been taking 200 to 400 mg of zinc a day for cold prevention for 22 years (recommended daily allowance of zinc, 15 mg/day). Neurologic examination …
