OZGROW DIAGNOSIS CODES H Growth Disorders
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Abstracts from the 9Th Biennial Scientific Meeting of The
International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 DOI 10.1186/s13633-017-0054-x MEETING ABSTRACTS Open Access Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE) Tokyo, Japan. 17-20 November 2016 Published: 28 Dec 2017 PS1 Heritable forms of primary bone fragility in children typically lead to Fat fate and disease - from science to global policy a clinical diagnosis of either osteogenesis imperfecta (OI) or juvenile Peter Gluckman osteoporosis (JO). OI is usually caused by dominant mutations affect- Office of Chief Science Advsor to the Prime Minister ing one of the two genes that code for two collagen type I, but a re- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS1 cessive form of OI is present in 5-10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that Attempts to deal with the obesity epidemic based solely on adult be- play a role in the processing of collagen type I protein (BMP1, havioural change have been rather disappointing. Indeed the evidence CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, PLOD2, SERPINF1, that biological, developmental and contextual factors are operating SERPINH1, SEC24D, SPARC, from the earliest stages in development and indeed across generations TMEM38B), or interfere with osteoblast function (SP7, WNT1). Specific is compelling. The marked individual differences in the sensitivity to the phenotypes are caused by mutations in SERPINF1 (recessive OI type obesogenic environment need to be understood at both the individual VI), P4HB (Cole-Carpenter syndrome) and SEC24D (‘Cole-Carpenter and population level. -
Liver Glucose Metabolism in Humans
Biosci. Rep. (2016) / 36 / art:e00416 / doi 10.1042/BSR20160385 Liver glucose metabolism in humans Mar´ıa M. Adeva-Andany*1, Noemi Perez-Felpete*,´ Carlos Fernandez-Fern´ andez*,´ Cristobal´ Donapetry-Garc´ıa* and Cristina Pazos-Garc´ıa* *Nephrology Division, Hospital General Juan Cardona, c/ Pardo Bazan´ s/n, 15406 Ferrol, Spain Synopsis Information about normal hepatic glucose metabolism may help to understand pathogenic mechanisms underlying obesity and diabetes mellitus. In addition, liver glucose metabolism is involved in glycosylation reactions and con- nected with fatty acid metabolism. The liver receives dietary carbohydrates directly from the intestine via the portal vein. Glucokinase phosphorylates glucose to glucose 6-phosphate inside the hepatocyte, ensuring that an adequate flow of glucose enters the cell to be metabolized. Glucose 6-phosphate may proceed to several metabolic path- ways. During the post-prandial period, most glucose 6-phosphate is used to synthesize glycogen via the formation of glucose 1-phosphate and UDP–glucose. Minor amounts of UDP–glucose are used to form UDP–glucuronate and UDP– galactose, which are donors of monosaccharide units used in glycosylation. A second pathway of glucose 6-phosphate metabolism is the formation of fructose 6-phosphate, which may either start the hexosamine pathway to produce UDP-N-acetylglucosamine or follow the glycolytic pathway to generate pyruvate and then acetyl-CoA. Acetyl-CoA may enter the tricarboxylic acid (TCA) cycle to be oxidized or may be exported to the cytosol to synthesize fatty acids, when excess glucose is present within the hepatocyte. Finally, glucose 6-phosphate may produce NADPH and ribose 5-phosphate through the pentose phosphate pathway. -
MODY 2 Presenting As Neonatal Hyperglycaemia: a Need to Reshape the Definition of ªneonatal Diabetesº?
Letters 1331 MODY 2 presenting as neonatal sidered a stringent criterium for selecting patients. We ob- served that the moderate low birth weight of patients No. 1 hyperglycaemia: a need to reshape and No. 3 was probablyinfluenced bya mutation of paternal the definition of ªneonatal diabetesº? origin and subsequent low fetal insulin secretion. Mutations in the GK represent the more frequent cause of Dear Sir, MODY in some series [3] and it has been calculated that up Neonatal diabetes mellitus is defined as a rare condition to 6% of familial Type II non-insulin-dependent) diabetes 1:400.000 live births) of unknown origin, characterised byhy- mellitus could bear a MODY 2 allele [3]. We and others have perglycaemia occurring in the first month of life that requires ex- frequentlyobserved that the mutation-carryingparent of chil- ogenous insulin therapy[1, 2]. The derangement of glucose me- dren with MODY 2 is unaware of his or her hyperglycaemia. tabolism in newborns affected bythis condition could be perma- As a consequence, some previouslydescribed cases of perma- nent permanent neonatal diabetes mellitus, PNDM) or could nent neonatal diabetes of unknown origin might be linked to orcouldnot)recurafterremissionofhyperglycaemiatransient GK mutations in both alleles, even in the absence of consan- neonataldiabetesmellitus,TNDM)[1,2]. Inapedigreewith ma- guineityloop i.e. compound heterozygous). Neonatal, insu- turityonset diabetes of the youngMODY) harbouring the glu- lin-requiring, permanent diabetes mellitus is the main feature cokinase GK, MODY 2) mutation Q38P, we followed a new of GK knock-out mice models [5]. pregnancyofthenon-mutantmotheroftheindexcase.Wefound We believe that the definition of neonatal diabetes currently that 15 days after delivery her child presented hyperglycaemia inuse[1,2]needstoberevisedinorderto:firstly,permanently in- 11.7 mmol) with dehydration and mild ketosis Table 1, patient corporate the concept that TNDM in some cases linked to pa- No. -
Maternal Or Paternal Diabetes and Its Crucial Role in Offspring Birth
H OH metabolites OH Editorial Maternal or Paternal Diabetes and Its Crucial Role in Offspring Birth Weight and MODY Diagnosis Valeria Calcaterra 1,2,* , Angela Zanfardino 3 , Gian Vincenzo Zuccotti 2,4 and Dario Iafusco 3 1 Pediatric and Adolescence Unit, Department of Internal Medicine and Therapeutics, University of Pavia, 27100 Pavia, Italy 2 Pediatric Unit, “V. Buzzi” Children’s Hospital, 20154 Milano, Italy; [email protected] 3 Department of Pediatrics, Regional Center of Pediatric Diabetology “G. Stoppoloni”, University of Campania “Luigi Vanvitelli”, 80138 Napoli, Italy; [email protected] (A.Z.); [email protected] (D.I.) 4 Department of Biomedical and Clinical Sciences “L. Sacco”, University of Milan, 20157 Milano, Italy * Correspondence: [email protected] Received: 17 September 2020; Accepted: 26 September 2020; Published: 28 September 2020 Abstract: Maturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic autosomal dominant diseases, which accounts for 1–2% of all diabetes cases. Pregnancy represents a crucial time to diagnose MODY forms due to the 50% risk of inheritance in offspring of affected subjects and the potential implications on adequate fetal weight. Not only a history of maternal diabetes may affect the birth weight of offspring, paternal diabetes should also be taken into consideration for a correct pathogenetic diagnosis. The crucial role of maternal and paternal diabetes inheritance patterns and the impact of this inherited mutation on birthweight and the MODY diagnosis was discussed. Keywords: mother; father; diabetes; birthweight; MODY Maturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic autosomal dominant diseases, which accounts for 1–2% of all diabetes cases [1]. -
Monogenic Diabetes: a New Pathogenic Variant of HNF1A Gene Raquel Vilela Oliveira, Teresa Bernardo, Sandrina Martins, Ana Sequeira
Case report BMJ Case Rep: first published as 10.1136/bcr-2019-231837 on 20 January 2021. Downloaded from Monogenic diabetes: a new pathogenic variant of HNF1A gene Raquel Vilela Oliveira, Teresa Bernardo, Sandrina Martins, Ana Sequeira Pediatrics, Unidade Local de SUMMARY hepatic nuclear factor 1 alpha (HNF1A), respec- Saúde do Alto Minho EPE, Viana Maturity onset diabetes of the young defines a tively.2–4 6 7 10 These subtypes account for up to 90% do Castelo, Portugal diabetes mellitus subtype, with no insulin resistance of all MODY cases.10 or autoimmune pancreatic β-cells dysfunction, that One of the challenges is to differentiate MODY Correspondence to from other forms of diabetes. The diagnosis of Dr Raquel Vilela Oliveira; occurs by mutation in a single gene. A 13- year- old Raquelvoliveira07@ gmail. com girl hospitalised due to hyperglycemia plus glycosuria MODY should be suspected in patients with family without ketosis, and with normal glycated haemoglobin history of diabetes of any type, diagnosed at a young Accepted 11 November 2019 of 6.8%. She started a sugar- free fast- absorption diet age (<25 years), lack of type 1 DM characteris- and no insulin therapy was required. Fasting glucose tics (the absence of islet autoantibodies, preserved was normal, but 2 hours after lunch she presented β-cell function with low or no insulin requirements hyperglycemia as after 2 hours of an oral glucose and detectable C- peptide over an extended partial tolerance test, with 217 mg/dL. Family history was remission phase), the absence of typical type 2 DM positive for type 2 diabetes mellitus with an autosomal characteristics (severe obesity, acanthosis nigricans dominant pattern. -
Abstracts from the 50Th European Society of Human Genetics Conference: Electronic Posters
European Journal of Human Genetics (2019) 26:820–1023 https://doi.org/10.1038/s41431-018-0248-6 ABSTRACT Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters Copenhagen, Denmark, May 27–30, 2017 Published online: 1 October 2018 © European Society of Human Genetics 2018 The ESHG 2017 marks the 50th Anniversary of the first ESHG Conference which took place in Copenhagen in 1967. Additional information about the event may be found on the conference website: https://2017.eshg.org/ Sponsorship: Publication of this supplement is sponsored by the European Society of Human Genetics. All authors were asked to address any potential bias in their abstract and to declare any competing financial interests. These disclosures are listed at the end of each abstract. Contributions of up to EUR 10 000 (ten thousand euros, or equivalent value in kind) per year per company are considered "modest". Contributions above EUR 10 000 per year are considered "significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal and fetal echocardiography. The molecular karyotyping Genetics revealed a gain in 8p11.22-p23.1 region with a size of 27.2 Mb containing 122 OMIM gene and a loss in 8p23.1- E-P01.02 p23.3 region with a size of 6.8 Mb containing 15 OMIM Prenatal diagnosis in a case of 8p inverted gene. The findings were correlated with 8p inverted dupli- duplication deletion syndrome cation deletion syndrome. Conclusion: Our study empha- sizes the importance of using additional molecular O¨. Kırbıyık, K. M. Erdog˘an, O¨.O¨zer Kaya, B. O¨zyılmaz, cytogenetic methods in clinical follow-up of complex Y. -
(12) Patent Application Publication (10) Pub. No.: US 2016/0281166 A1 BHATTACHARJEE Et Al
US 20160281 166A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2016/0281166 A1 BHATTACHARJEE et al. (43) Pub. Date: Sep. 29, 2016 (54) METHODS AND SYSTEMIS FOR SCREENING Publication Classification DISEASES IN SUBJECTS (51) Int. Cl. (71) Applicant: PARABASE GENOMICS, INC., CI2O I/68 (2006.01) Boston, MA (US) C40B 30/02 (2006.01) (72) Inventors: Arindam BHATTACHARJEE, G06F 9/22 (2006.01) Andover, MA (US); Tanya (52) U.S. Cl. SOKOLSKY, Cambridge, MA (US); CPC ............. CI2O 1/6883 (2013.01); G06F 19/22 Edwin NAYLOR, Mt. Pleasant, SC (2013.01); C40B 30/02 (2013.01); C12O (US); Richard B. PARAD, Newton, 2600/156 (2013.01); C12O 2600/158 MA (US); Evan MAUCELI, (2013.01) Roslindale, MA (US) (21) Appl. No.: 15/078,579 (57) ABSTRACT (22) Filed: Mar. 23, 2016 Related U.S. Application Data The present disclosure provides systems, devices, and meth (60) Provisional application No. 62/136,836, filed on Mar. ods for a fast-turnaround, minimally invasive, and/or cost 23, 2015, provisional application No. 62/137,745, effective assay for Screening diseases, such as genetic dis filed on Mar. 24, 2015. orders and/or pathogens, in Subjects. Patent Application Publication Sep. 29, 2016 Sheet 1 of 23 US 2016/0281166 A1 SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS S{}}\\93? sau36 Patent Application Publication Sep. 29, 2016 Sheet 2 of 23 US 2016/0281166 A1 &**** ? ???zzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzz??º & %&&zzzzzzzzzzzzzzzzzzzzzzz &Sssssssssssssssssssssssssssssssssssssssssssssssssssssssss & s s sS ------------------------------ Patent Application Publication Sep. 29, 2016 Sheet 3 of 23 US 2016/0281166 A1 23 25 20 FG, 2. Patent Application Publication Sep. 29, 2016 Sheet 4 of 23 US 2016/0281166 A1 : S Patent Application Publication Sep. -
Download an Example File with Diabetes Mellitus (PDF)
Legal Disclaimer All diagnostic and therapeutic procedures in the field of science and medicine are continuously evolving: Therefore the herein presented medical evidence is state of the technical and scientific art at the time of the editorial deadline for the respective edition of the book. All details provided herein related to a particular therapeutic mode of administration and dosing of drugs are screened employing utmost measures of accuracy and precision. Unless explicitly specified otherwise, all drug administration and dosing regimens presented herein are for healthy adults with normal renal and hepatic function. Liability cannot be assumed for any type of dosing and administration regimen presented herein. Each reader is advised to carefully consult the respective market authorization holders directions for use of the recommended drugs, medical devices and other means of therapy and diagnosis. This applies in particular also to market authorization holders summaries of product characteristics for pharmaceutical products. Despite all care, there may be translation errors. The reader is advised to carefully check information related to the indication for use, contraindications, dosing recommendations, side effects and interactions with other medications! All modes of medication use and administration are at the consumers risk. The author and his team cannot be held responsible for any damage caused by wrong therapy or diagnosis. Please refer to, i.e: www.leitlinien.de or www.guideline.gov The trade name of a trade name registered product does not provide the legal privilege to employ the trade name as a free trade mark even if it is not specifically marked as such. Drugs which are sold as generics are referred to throughout the book by their generic name and not necessarily by a particular brand name Remark: ICD 10 code version 1.3 has been employed for the index. -
UNSCEAR 2001 Report to the General Assembly, with Scientific Annex
HEREDITARY EFFECTS OF RADIATION United Nations Scientific Committee on the Effects of Atomic Radiation UNSCEAR 2001 Report to the General Assembly, with Scientific Annex UNITED NATIONS HEREDITARY EFFECTS OF RADIATION United Nations Scientific Committee on the Effects of Atomic Radiation UNSCEAR 2001 Report to the General Assembly, with Scientific Annex UNITED NATIONS New York, 2001 NOTE The report of the Committee without its scientific annex appears as Official Records of the General Assembly. Fifty-sixth Session, Supplement No. 46 (N56146). The designation employed and the presentation of material in this publication do not imply the expression of any opinion whatsoever on the pad of the Secretariat of the United Nationsconcerning the legal status of any country, temtory, city orarea, or of its authorities, or concerning the delimitation of its frontiers or boundaries. The country names used in this document are, In most cases, those that were in use at the time the data were collected or the text prepared. In othercases, however, the names have been updated, where this was posslble and appropriate, to reflect political changes. UNITED NATIONS PUBLICATION Sales No. E.O1 .IX.2 ISBN 92-1-1 42244-2 Report of the United Nations Scientific Committee on the Effects of Atomic Radiation to the General Assembly 1. During the past few years, the United Nations 4. The Committee wishes to acknowledge the assistance Scientific Committee on the Effects of Atomic Radiation1 of the consultant, K. Sankaranarayanan, in the preparation has undertaken broad reviews of the sources and effects of of the scientific annex and the advice of the international ionizing radiation. -
Two MODY 2 Families Identified in Brazilian Subjects
case report Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects Hiperglicemia incidental em crianças: duas famílias com MODY 2 identificadas em brasileiros Lílian A. Caetano1,2, Alexander A. L. Jorge1, Alexsandra C. Malaquias1, Ericka B. Trarbach1, Márcia S. Queiroz2, Márcia Nery2, Milena G. Teles1,2 SUMMARY Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode 1 Unidade de Endocrinologia of inheritance, early onset of hyperglycemia, and defects of insulin secretion. MODY subtypes Genética e Laboratório de described present genetic, metabolic, and clinical differences. MODY 2 is characterized by mild Endocrinologia Molecular e Celular/LIM25, Disciplina de asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment. Hence, Endocrinologia, Faculdade precise diagnosis of MODY is important for determining management and prognosis. We report de Medicina da Universidade two heterozygous GCK mutations identified during the investigation of short stature. Case 1: a de São Paulo (FMUSP), São Paulo, SP, Brazil prepubertal 14-year-old boy was evaluated for constitutional delay of growth and puberty. During 2 Unidade de Diabetes, follow-up, he showed abnormal fasting glucose (113 mg/dL), increased level of HbA1c (6.6%), and Hospital das Clínicas, FMUSP, negative β-cell antibodies. His father and two siblings also had slightly elevated blood glucose le- São Paulo, SP, Brazil vels. The mother had normal glycemia. A GCK heterozygous missense mutation, p.Arg191Trp, was identified in the proband. Eighteen family members were screened for this mutation, and 11 had the mutation in heterozygous state. Case 2: a 4-year-old boy investigated for short stature revealed no other laboratorial alterations than elevated glycemia (118 mg/dL); β-cell antibodies were nega- tive. -
Genetic, Metabolic and Clinical Characteristics of Maturity Onset Diabetes of the Young
European Journal of Endocrinology (1998) 138 233±239 ISSN 0804-4643 REVIEW Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young Gilberto Velho and Philippe Froguel1 INSERM U-342, HoÃpital Saint Vincent de Paul, Paris, France and 1CNRS EP10, Institut Pasteur de Lille et CHU, Lille, France (Correspondence should be addressed to G Velho, INSERM U-342, HoÃpital Saint Vincent de Paul, 82 Avenue Denfert Rochereau, 75014 Paris, France) Abstract Maturity onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of non-insulin-dependent diabetes mellitus (NIDDM) characterised by early onset, autosomal dominant inheritance and a primary defect in insulin secretion. To date, three MODY genes have been identi®ed on chromosomes 20q (MODY1/hepatic nuclear factor (HNF)-4a), 7p (MODY2/glucokinase) and 12q (MODY3/HNF-1a). Mutations in MODY2/glucokinase result in mild chronic hyperglycaemia as a result of reduced pancreatic beta-cell responsiveness to glucose, and decreased net accumulation of hepatic glycogen and increased hepatic gluconeogenesis after meals. In contrast, MODY1 and MODY3 are characterised by severe insulin secretory defects, and by major hyperglycaemia associated with microvascular complications. The role of the three known MODY genes in susceptibility to the more common late-onset NIDDM remain uncertain. Genetic studies seem to exclude a role as major susceptibility genes, but leave unresolved whether they may have a minor role in a polygenic context or an important role in particular populations. European Journal of Endocrinology 138 233±239 MODY is a monogenic form of NIDDM MODY3/HNF-1a (11, 12) respectively, can cause this form of diabetes. -
Mat Kadi Tora Tutti O Al Ut Hit Hitta Atuh
MAT KADI TORA TUTTI USO AL20180235194A1 UT HIT HITTA ATUH ( 19) United States (12 ) Patent Application Publication ( 10) Pub . No. : US 2018 /0235194 A1 Fahrenkrug et al. (43 ) Pub . Date : Aug . 23, 2018 ( 54 ) MULTIPLEX GENE EDITING Publication Classification (51 ) Int. Ci. ( 71 ) Applicant: Recombinetics , Inc ., Saint Paul, MN A01K 67/ 027 (2006 . 01 ) (US ) C12N 15 / 90 ( 2006 .01 ) (72 ) Inventors : Scott C . Fahrenkrug, Minneapolis , (52 ) U . S . CI. MN (US ) ; Daniel F . Carlson , CPC .. .. A01K 67 / 0276 (2013 . 01 ) ; C12N 15 / 907 Woodbury , MN (US ) ( 2013 .01 ) ; A01K 67 /0275 ( 2013 .01 ) ; A01K 2267/ 02 (2013 .01 ) ; AOIK 2217 / 15 (2013 .01 ) ; AOIK 2227 / 108 ( 2013 .01 ) ; AOIK 2217 /07 (21 ) Appl. No. : 15 /923 , 951 ( 2013 .01 ) ; A01K 2227/ 101 (2013 .01 ) ; AOIK ( 22 ) Filed : Mar. 16 , 2018 2217 /075 ( 2013 .01 ) (57 ) ABSTRACT Related U . S . Application Data Materials and methods for making multiplex gene edits in (62 ) Division of application No . 14 /698 ,561 , filed on Apr. cells and are presented . Further methods include animals 28 , 2015, now abandoned . and methods of making the same . Methods of making ( 60 ) Provisional application No . 61/ 985, 327, filed on Apr. chimeric animals are presented , as well as chimeric animals . 28 , 2014 . Specification includes a Sequence Listing . Patent Application Publication Aug . 23 , 2018 Sheet 1 of 13 US 2018 / 0235194 A1 GENERATION OF HOMOZYGOUS CATTLE EDITED AT ONE ALLELE USING SINGLE EDITS Edit allele , Raise FO to Mate FO enough times Raise F1s to Mate F1 siblings Clone cell , sexual maturity , to produce enough F1 sexualmaturity , to make Implant, Gestate 2 years generation carrying 2 years homozygous KO , 9 months , birth edited allele to mate 9 months of FO with each other Generation Primary Fibroblasts ? ? ? Time, years FIG .