SNF Self-Care Model: ICD-10 HCC Crosswalk, V. 3.0.1
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Inherited Metabolic Disease
Inherited metabolic disease Dr Neil W Hopper SRH Areas for discussion • Introduction to IEMs • Presentation • Initial treatment and investigation of IEMs • Hypoglycaemia • Hyperammonaemia • Other presentations • Management of intercurrent illness • Chronic management Inherited Metabolic Diseases • Result from a block to an essential pathway in the body's metabolism. • Huge number of conditions • All rare – very rare (except for one – 1:500) • Presentation can be non-specific so index of suspicion important • Mostly AR inheritance – ask about consanguinity Incidence (W. Midlands) • Amino acid disorders (excluding phenylketonuria) — 18.7 per 100,000 • Phenylketonuria — 8.1 per 100,000 • Organic acidemias — 12.6 per 100,000 • Urea cycle diseases — 4.5 per 100,000 • Glycogen storage diseases — 6.8 per 100,000 • Lysosomal storage diseases — 19.3 per 100,000 • Peroxisomal disorders — 7.4 per 100,000 • Mitochondrial diseases — 20.3 per 100,000 Pathophysiological classification • Disorders that result in toxic accumulation – Disorders of protein metabolism (eg, amino acidopathies, organic acidopathies, urea cycle defects) – Disorders of carbohydrate intolerance – Lysosomal storage disorders • Disorders of energy production, utilization – Fatty acid oxidation defects – Disorders of carbohydrate utilization, production (ie, glycogen storage disorders, disorders of gluconeogenesis and glycogenolysis) – Mitochondrial disorders – Peroxisomal disorders IMD presentations • ? IMD presentations • Screening – MCAD, PKU • Progressive unexplained neonatal -
Hookworm (Ancylostomiasis)
Hookworm (ancylostomiasis) Hookworm (ancylostomiasis) rev Jan 2018 BASIC EPIDEMIOLOGY Infectious Agent Hookworm is a soil transmitted helminth. Human infections are caused by the nematode parasites Necator americanus and Ancylostoma duodenale. Transmission Transmission primarily occurs via direct contact with fecal contaminated soil. Soil becomes contaminated with eggs shed in the feces of an individual infected with hookworm. The eggs must incubate in the soil for several days before they become infectious and are able to be transmitted to another person. Oral transmission can sometimes occur from consuming improperly washed food grown or exposed to fecal contaminated soil. Transmission can also occur (rarely) between a mother and her fetus/infant via infected placental or mammary tissue. Incubation Period Eggs must incubate in the soil for 5-10 days before they mature into infectious filariform larvae that can penetrate the skin. Within the first 10 days following penetration of the skin filariform larvae will migrate to the lungs and occasionally cause respiratory symptoms. Three to five weeks after skin penetration the larvae will migrate to the intestinal tract where they will mature into an adult worm. Adult worms may live in the intestine for 1-5 years depending on the species. Communicability Human to human transmission of hookworm does NOT occur because part of the worm’s life cycle must be completed in soil before becoming infectious. However, vertical transmission of dormant filariform larvae can occur between a mother and neonate via contaminated breast milk. These dormant filariform larvae can remain within in a host for months to years. Soil contamination is perpetuated by fecal contamination from infected individuals who can shed eggs in feces for several years after infection. -
Genes Investigated
BabyNEXTTM EXTENDED Investigated genes and associated diseases Gene Disease OMIM OMIM Condition RUSP gene Disease ABCC8 Familial hyperinsulinism 600509 256450 Metabolic disorder - ABCC8-related Inborn error of amino acid metabolism ABCD1 Adrenoleukodystrophy 300371 300100 Miscellaneous RUSP multisystem (C) * diseases ABCD4 Methylmalonic aciduria and 603214 614857 Metabolic disorder - homocystinuria, cblJ type Inborn error of amino acid metabolism ACAD8 Isobutyryl-CoA 604773 611283 Metabolic Disorder - RUSP dehydrogenase deficiency Inborn error of (S) ** organic acid metabolism ACAD9 acyl-CoA dehydrogenase-9 611103 611126 Metabolic Disorder - (ACAD9) deficiency Inborn error of fatty acid metabolism ACADM Acyl-CoA dehydrogenase, 607008 201450 Metabolic Disorder - RUSP medium chain, deficiency of Inborn error of fatty (C) acid metabolism ACADS Acyl-CoA dehydrogenase, 606885 201470 Metabolic Disorder - RUSP short-chain, deficiency of Inborn error of fatty (S) acid metabolism ACADSB 2-methylbutyrylglycinuria 600301 610006 Metabolic Disorder - RUSP Inborn error of (S) organic acid metabolism ACADVL very long-chain acyl-CoA 609575 201475 Metabolic Disorder - RUSP dehydrogenase deficiency Inborn error of fatty (C) acid metabolism ACAT1 Alpha-methylacetoacetic 607809 203750 Metabolic Disorder - RUSP aciduria Inborn error of (C) organic acid metabolism ACSF3 Combined malonic and 614245 614265 Metabolic Disorder - methylmalonic aciduria Inborn error of organic acid metabolism 1 ADA Severe combined 608958 102700 Primary RUSP immunodeficiency due -
Pathophysiology and Gastrointestinal Impacts of Parasitic Helminths in Human Being
Research and Reviews on Healthcare: Open Access Journal DOI: 10.32474/RRHOAJ.2020.06.000226 ISSN: 2637-6679 Research Article Pathophysiology and Gastrointestinal Impacts of Parasitic Helminths in Human Being Firew Admasu Hailu1*, Geremew Tafesse1 and Tsion Admasu Hailu2 1Dilla University, College of Natural and Computational Sciences, Department of Biology, Dilla, Ethiopia 2Addis Ababa Medical and Business College, Addis Ababa, Ethiopia *Corresponding author: Firew Admasu Hailu, Dilla University, College of Natural and Computational Sciences, Department of Biology, Dilla, Ethiopia Received: November 05, 2020 Published: November 20, 2020 Abstract Introduction: This study mainly focus on the major pathologic manifestations of human gastrointestinal impacts of parasitic worms. Background: Helminthes and protozoan are human parasites that can infect gastrointestinal tract of humans beings and reside in intestinal wall. Protozoans are one celled microscopic, able to multiply in humans, contributes to their survival, permits serious infections, use one of the four main modes of transmission (direct, fecal-oral, vector-borne, and predator-prey) and also helminthes are necked multicellular organisms, referred as intestinal worms even though not all helminthes reside in intestines. However, in their adult form, helminthes cannot multiply in humans and able to survive in mammalian host for many years due to their ability to manipulate immune response. Objectives: The objectives of this study is to assess the main pathophysiology and gastrointestinal impacts of parasitic worms in human being. Methods: Both primary and secondary data were collected using direct observation, books and articles, and also analyzed quantitativelyResults and and conclusion: qualitatively Parasites following are standard organisms scientific living temporarily methods. in or on other organisms called host like human and other animals. -
Amino Acid Disorders
471 Review Article on Inborn Errors of Metabolism Page 1 of 10 Amino acid disorders Ermal Aliu1, Shibani Kanungo2, Georgianne L. Arnold1 1Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; 2Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA Contributions: (I) Conception and design: S Kanungo, GL Arnold; (II) Administrative support: S Kanungo; (III) Provision of study materials or patients: None; (IV) Collection and assembly of data: E Aliu, GL Arnold; (V) Data analysis and interpretation: None; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Georgianne L. Arnold, MD. UPMC Children’s Hospital of Pittsburgh, 4401 Penn Avenue, Suite 1200, Pittsburgh, PA 15224, USA. Email: [email protected]. Abstract: Amino acids serve as key building blocks and as an energy source for cell repair, survival, regeneration and growth. Each amino acid has an amino group, a carboxylic acid, and a unique carbon structure. Human utilize 21 different amino acids; most of these can be synthesized endogenously, but 9 are “essential” in that they must be ingested in the diet. In addition to their role as building blocks of protein, amino acids are key energy source (ketogenic, glucogenic or both), are building blocks of Kreb’s (aka TCA) cycle intermediates and other metabolites, and recycled as needed. A metabolic defect in the metabolism of tyrosine (homogentisic acid oxidase deficiency) historically defined Archibald Garrod as key architect in linking biochemistry, genetics and medicine and creation of the term ‘Inborn Error of Metabolism’ (IEM). The key concept of a single gene defect leading to a single enzyme dysfunction, leading to “intoxication” with a precursor in the metabolic pathway was vital to linking genetics and metabolic disorders and developing screening and treatment approaches as described in other chapters in this issue. -
SNF Mobility Model: ICD-10 HCC Crosswalk, V. 3.0.1
The mapping below corresponds to NQF #2634 and NQF #2636. HCC # ICD-10 Code ICD-10 Code Category This is a filter ceThis is a filter cellThis is a filter cell 3 A0101 Typhoid meningitis 3 A0221 Salmonella meningitis 3 A066 Amebic brain abscess 3 A170 Tuberculous meningitis 3 A171 Meningeal tuberculoma 3 A1781 Tuberculoma of brain and spinal cord 3 A1782 Tuberculous meningoencephalitis 3 A1783 Tuberculous neuritis 3 A1789 Other tuberculosis of nervous system 3 A179 Tuberculosis of nervous system, unspecified 3 A203 Plague meningitis 3 A2781 Aseptic meningitis in leptospirosis 3 A3211 Listerial meningitis 3 A3212 Listerial meningoencephalitis 3 A34 Obstetrical tetanus 3 A35 Other tetanus 3 A390 Meningococcal meningitis 3 A3981 Meningococcal encephalitis 3 A4281 Actinomycotic meningitis 3 A4282 Actinomycotic encephalitis 3 A5040 Late congenital neurosyphilis, unspecified 3 A5041 Late congenital syphilitic meningitis 3 A5042 Late congenital syphilitic encephalitis 3 A5043 Late congenital syphilitic polyneuropathy 3 A5044 Late congenital syphilitic optic nerve atrophy 3 A5045 Juvenile general paresis 3 A5049 Other late congenital neurosyphilis 3 A5141 Secondary syphilitic meningitis 3 A5210 Symptomatic neurosyphilis, unspecified 3 A5211 Tabes dorsalis 3 A5212 Other cerebrospinal syphilis 3 A5213 Late syphilitic meningitis 3 A5214 Late syphilitic encephalitis 3 A5215 Late syphilitic neuropathy 3 A5216 Charcot's arthropathy (tabetic) 3 A5217 General paresis 3 A5219 Other symptomatic neurosyphilis 3 A522 Asymptomatic neurosyphilis 3 A523 Neurosyphilis, -
Hookworm-Related Cutaneous Larva Migrans
326 Hookworm-Related Cutaneous Larva Migrans Patrick Hochedez , MD , and Eric Caumes , MD Département des Maladies Infectieuses et Tropicales, Hôpital Pitié-Salpêtrière, Paris, France DOI: 10.1111/j.1708-8305.2007.00148.x Downloaded from https://academic.oup.com/jtm/article/14/5/326/1808671 by guest on 27 September 2021 utaneous larva migrans (CLM) is the most fre- Risk factors for developing HrCLM have specifi - Cquent travel-associated skin disease of tropical cally been investigated in one outbreak in Canadian origin. 1,2 This dermatosis fi rst described as CLM by tourists: less frequent use of protective footwear Lee in 1874 was later attributed to the subcutane- while walking on the beach was signifi cantly associ- ous migration of Ancylostoma larvae by White and ated with a higher risk of developing the disease, Dove in 1929. 3,4 Since then, this skin disease has also with a risk ratio of 4. Moreover, affected patients been called creeping eruption, creeping verminous were somewhat younger than unaffected travelers dermatitis, sand worm eruption, or plumber ’ s itch, (36.9 vs 41.2 yr, p = 0.014). There was no correla- which adds to the confusion. It has been suggested tion between the reported amount of time spent on to name this disease hookworm-related cutaneous the beach and the risk of developing CLM. Consid- larva migrans (HrCLM).5 ering animals in the neighborhood, 90% of the Although frequent, this tropical dermatosis is travelers in that study reported seeing cats on the not suffi ciently well known by Western physicians, beach and around the hotel area, and only 1.5% and this can delay diagnosis and effective treatment. -
Albendazole: a Review of Anthelmintic Efficacy and Safety in Humans
S113 Albendazole: a review of anthelmintic efficacy and safety in humans J.HORTON* Therapeutics (Tropical Medicine), SmithKline Beecham International, Brentford, Middlesex, United Kingdom TW8 9BD This comprehensive review briefly describes the history and pharmacology of albendazole as an anthelminthic drug and presents detailed summaries of the efficacy and safety of albendazole’s use as an anthelminthic in humans. Cure rates and % egg reduction rates are presented from studies published through March 1998 both for the recommended single dose of 400 mg for hookworm (separately for Necator americanus and Ancylostoma duodenale when possible), Ascaris lumbricoides, Trichuris trichiura, and Enterobius vermicularis and, in separate tables, for doses other than a single dose of 400 mg. Overall cure rates are also presented separately for studies involving only children 2–15 years. Similar tables are also provided for the recommended dose of 400 mg per day for 3 days in Strongyloides stercoralis, Taenia spp. and Hymenolepis nana infections and separately for other dose regimens. The remarkable safety record involving more than several hundred million patient exposures over a 20 year period is also documented, both with data on adverse experiences occurring in clinical trials and with those in the published literature and\or spontaneously reported to the company. The incidence of side effects reported in the published literature is very low, with only gastrointestinal side effects occurring with an overall frequency of just "1%. Albendazole’s unique broad-spectrum activity is exemplified in the overall cure rates calculated from studies employing the recommended doses for hookworm (78% in 68 studies: 92% for A. duodenale in 23 studies and 75% for N. -
Amino Acids & Proteins
Amino Acids & Proteins Amino Acids Amino acids are organic compounds containing both amino group & carboxyl group, those occurring in human proteins are L α-amino acids having the formula RCH(NH2)COOH & with the exception of glycine all amino acids are asymmetric . D-Amino acids that occur naturally are free D-serine& D- aspartate which present in the in brain tissue. Classification of Amino acids Over 300 amino acids occur naturally, however; only 20 of them share in the formation of proteins. Classification of amino acids either according to their R-group or to their nutritional importance. 1-Classification according to R-group(side chain). 1 2 2-Classification according to their nutritional importance All 20 amino acids present in proteins are biologically essential but not all of them are nutritionally essential, therefore, they are classified into: 3 A-Nutritionally essential amino acids :they should be supplement in diet because human body can not synthesize it , there deficiencies lead to kwashiorkor (protein malnutrition) & marasmus (protein & energy malnutrition). B-Nutritionally nonessential amino acids : human body can synthesize it , therefore , it’s not essential to be supplied in the diet. R-group It determines the property of amino acid in peptide formation as: 1-Since glycine is smallest amino acid, therefore, it can accommodate in places inaccessible to other amino acids in the formation of peptide. 4 2-Hydrophobic R-group of alanine, valine, leucine, Isoleucine, & aromatic R-groups of phenylalanine , tyrosine & tryptophan make them in the interior of protein. 3-The charged R-group of basic & acidic amino acids stabilize protein conformation through ionic interaction or salt-bridge. -
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Birmingham, UK, 4 – 7 September 2012
J Inherit Metab Dis (2012) 35 (Suppl 1):S1–S182 DOI 10.1007/s10545-012-9512-z ABSTRACTS Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Birmingham, UK, 4 – 7 September 2012 This supplement was not sponsored by outside commercial interests. It was funded entirely by the SSIEM. 01. Amino Acids and PKU O-002 NATURAL INHIBITORS OF CARNOSINASE (CN1) O-001 Peters V1 ,AdelmannK2 ,YardB2 , Klingbeil K1 ,SchmittCP1 , Zschocke J3 3-HYDROXYISOBUTYRIC ACID DEHYDROGENASE DEFICIENCY: 1Zentrum für Kinder- und Jugendmedizin de, Heidelberg, Germany IDENTIFICATION OF A NEW INBORN ERROR OF VALINE 2Universitätsklinik, Mannheim, Germany METABOLISM 3Humangenetik, Innsbruck, Austria Wanders RJA1 , Ruiter JPN1 , Loupatty F.1 , Ferdinandusse S.1 , Waterham HR1 , Pasquini E.1 Background: Carnosinase degrades histidine-containing dipeptides 1Div Metab Dis, Univ Child Hosp, Amsterdam, Netherlands such as carnosine and anserine which are known to have several protective functions, especially as antioxidant agents. We recently Background, Objectives: Until now only few patients with an established showed that low carnosinase activities protect from diabetic nephrop- defect in the valine degradation pathway have been identified. Known athy, probably due to higher histidine-dipeptide concentrations. We deficiencies include 3-hydroxyisobutyryl-CoA hydrolase deficiency and now characterized the carnosinase metabolism in children and identi- methylmalonic semialdehyde dehydrogenase (MMSADH) deficiency. On fied natural inhibitors of carnosinase. the other hand many patients with 3-hydroxyisobutyric aciduria have been Results: Whereas serum carnosinase activity and protein concentrations described with a presumed defect in the valine degradation pathway. To correlate in adults, children have lower carnosinase activity although pro- identify the enzymatic and molecular defect in a group of patients with 3- tein concentrations were within the same level as for adults. -
Omics Knowledgebase for Mammalian Cellular Signaling Pathways
bioRxiv preprint doi: https://doi.org/10.1101/401729; this version posted August 27, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. The Signaling Pathways Project: an integrated ‘omics knowledgebase for mammalian cellular signaling pathways Scott Ochsner, David Abraham*, Kirt Martin*, Wei Ding, Apollo McOwiti, Zichen Wang, Kaitlyn Andreano, Ross A. Hamilton, Yue Chen, Angelica Hamilton, Marin L. Gantner, Michael Dehart, Shijing Qu, Susan G. Hilsenbeck, Lauren B. Becnel, Dave Bridges, Avi Ma’ayan, Janice M. Huss, Fabio Stossi, Charles E. Foulds, Anastasia Kralli, Donald P. McDonnell and Neil J. McKenna Address Correspondence To: Neil J. McKenna Department of Molecular and Cellular Biology Baylor College of Medicine Houston, TX 77030 USA e: [email protected] t: 713-798-8568 *These authors contributed equally to this study 1 bioRxiv preprint doi: https://doi.org/10.1101/401729; this version posted August 27, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Summary Public transcriptomic and ChIP-Seq datasets have the potential to illuminate facets of transcriptional regulation by mammalian cellular signaling pathways not yet explored in the research literature. Unfortunately, a variety of obstacles prevent routine re-use of these datasets by bench biologists for hypothesis generation and data validation. Here, we designed a web knowledgebase, the Signaling Pathways Project (SPP), which incorporates stable community classifications of three major categories of cellular signaling pathway node (receptors, enzymes and transcription factors) and the bioactive small molecules (BSMs) known to modulate their functions. -
Amino Acid Disorders Detected by Quantitative Amino Acid HPLC Analysis in Thailand: an Eight-Year Experience
ارا ه ت ه از $&% #ت "! Clinica Chimica Acta 413 (2012) 1141–1144 Contents lists available at SciVerse ScienceDirect Clinica Chimica Acta journal homepage: www.elsevier.com/locate/clinchim Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience Nithiwat Vatanavicharn ⁎, Pisanu Ratanarak, Somporn Liammongkolkul, Achara Sathienkijkanchai, Pornswan Wasant Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand article info abstract Article history: Background: Amino acid disorders are a major group of inborn errors of metabolism (IEM) with variable clin- Received 13 October 2011 ical presentations. This study was aimed to provide the data of amino acid disorders detected in high-risk Received in revised form 16 March 2012 Thai patients referred to our metabolic lab from all over the country. Accepted 20 March 2012 Methods: From 2001 to 2009, we analyzed amino acids by HPLC in 1214 plasma and cerebrospinal fluid spec- Available online 23 March 2012 imens. These specimens were obtained from patients with clinical suspicion of IEM or with positive newborn screening. The clinical data of the patients with confirmed diagnoses of amino acid disorders were also ana- Keywords: lyzed. Amino acid disorders HPLC Results: Fifty-eight patients were diagnosed with amino acid disorders, including 20 cases (34.5%) with maple Thailand syrup urine disease, 13 (22.4%) with phenylketonuria and hyperphenylalaninemia, 13 (22.4%) with nonke- totic hyperglycinemia, 9 (15.5%) with urea cycle defects, 2 (3.4%) with classical homocystinuria, and 1 (1.7%) with ornithine aminotransferase deficiency. There was considerable delay in diagnoses which led to poor outcomes in most patients.