Seminarios de Teoría 2023

SEMINARIOS 2023:

TEMA 1:

DETECCION DE UNA DELECION

Gente seminarios de los temas 4, 5 y 7. Vayan anotándose en la planilla

2019 Acute hepatic porphyrias- Current diagnosis

2022 Challenges in diagnosis and management of acute hepatic porphyrias

2022 Givosiran and Acute Hepatic Porphyria

2021 Depression of Pyroptosis by Inhibiting Caspase-1and Kernicterus

2021 Review of the contribution of genetic factors to hyperbilirubinemia

2022 Bilirubin Encephalopathy

2019 Urate-induced immune programming – gouty arthritis and hyperuricemia

2023 Hyperuricemia and endothelial dysfunction in cardiovascular diseases

2022 Congenital Hypothyroidism in Preterm Newborns

2022 Genetics of congenital hypothyroidism Modern concepts

Tema 13:

2023 Hypertriglyceridemia-Associated Pancreatitis

2020 A Comprehensive Update on the Chylomicronemia Syndrome

Tema 16:

2021-Duchenne muscular dystrophy

Tema 19:

2023 Understanding the phenotypic variability in Niemann-Pick disease type C (NPC)

Tema 20: 

2022 A Rare Biotinidase Deficiency

SUPERCONSULTA PARA FANÁTICOS DE LP:

2022 A Modern Approach to Dyslipidemia

 Tema 9 : 2020 Molecular analysis of GALT gene in Argentinian population

Tema 3: 2019 coinheritance of Hb Koln and Hb E2017

Tema 3 The spectrum of sickle hemoglobin-related nephropathy

Tema 9: 2017 Galactose-1-phosphate uridyltransferase deficiency

Tema 9 1022 Galactosemia Biochemistry Molecular Genetics

Tema 3: 2017-the-spectrum-of-sickle-hemoglobin-related-nephropathy

Seminarios 2022:

2020 Iron deficiency in children with or without anemia

(1)ADN libre de células y apoptosis: Cf ADN y APOPTOSIS

(2)2018- Human hemoglobin G-Makassar variant masquerading as sickle cell anemia

(3)Efectos Hemo/Mioglobinuria sobre riñón:  2018- Efectos adversos de la acumulación renal de hemoproteínas

(4) porfirias II

(5) porfiria II mecanismo daño neuronal

(6) Acido Urico

(7) pancreatitis aguda

(8) pancreatitis II

(9) MSUD

(10)lcat y riñon

Seminarios 2020:
2016-Screening for Phenylketonuria

Clinical Guidelines: Care of Children with Cystic Fibrosis Royal Brompton Hospital:
2020 – FQ Clinical Guidelines- Royal Brompton Hospital

Porfirinas & COVID:19
Abnormal concentration of porphyrins in serum from COVID‐19 patients

2018
Tipo III2015-Two cases report and a diagnostic algorithm
2012- Evaluation and Treatment of Hypertriglyceridemia- An Endocrine Society Clinical Practice Guideline

Gente ahi le subo el algoritmo que hablamos en el seminario para determinar los fenotipos midiendo apo B y Tg:
A diagnostic algorithm for the atherogenic apolipoprotein B dyslipoproteinemias

Resumido:

Seminario Hipercolesterolemia:
Ascaso2015-Hipercolesterolemia familiar homocigota CONSENSO ESPAÑA
Otros seminarios comentados:
2015-Spectrum of mutations of the LPL gene identified in Italy in patients

2017- Novel APOC2 Missense Mutation Causing Apo A2 deficiency

2017
Alteraciones en el metabolismo de lipoproteínas ricas en triglicéridos:

2018-Plasma lipid transfer proteins-The role of PLTP and CETP in atherogenesis

2017-Diagnostic algorithm for familial chylomicronemia syndrome

2016-Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene

2015-Treatment of primary hypertriglyceridemia states – General approach and the role of extracorporeal methods

2017-Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia

2015-Angiopoietin-like 4 Modifies the Interactions between LPL and GPIHBP1

2014-Physiological regulation of lipoprotein lipase

2014-Lipoprotein lipase activity in heterozygotes for lipoprotein lipase gene mutations

2014-Endothelial cells respond to hyperglycemia by increasing the LPL transporter GPIHBP1

2011-GPIHBP1 an endothelial cell transporter for lipoprotein lipase

2012-The Importance of Lipid and Lipoprotein Ratios in Interpretetions of Hyperlipidaemia of Pregnancy

2012- Association of LPL gene variant and LDL, HDL, VLDL cholesterol and triglyceride levels with ischemic stroke

2015- Papel de las lipasas metabólicas y la lipotoxicidad en el desarrollo de esteatosis hepática y esteatohepatitis no alcohólica

2010- LIPOPROTEINAS REMANENTES ATEROGENICAS EN HUMANOS

2011-The triglyceridehigh-density lipoprotein-cholesterol ratio

2016-APOA5 genetic and epigenetic variability jointly regulate circulating triacylglycerol levels

2011- Genetic determinants of plasma triglycerides

—-
Bilirubin-Induced Neurologic Damage-KERNICTERUS

2014-Yes-Inherited Disorders of Bilirubin Transport and

2017-Methods for the field evaluation of quantitative G6PD diagnostics

2016-Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients

2016-Congenital Hemolytic Anemia

2015-Erythrocyte pyruvate kinase deficiency- 2015 status report.

2015- Investigation and management of the hepatic glycogen storage diseases

2015-Hepatic glycogen storage disorder-what have we learned in recent years

2015-McArdle Disease -Update of Reported Mutations-

2016-Genes and exercise intolerance- insights from McArdle disease.

2015-Even in the era of congenital hypothyroidism screening mild and subclinical sensorineural hearing loss

2017-Central hypothyroidism — a neglected thyroid disorder

2015-Thyroid transcription factors in development, differentiation and disease

2017-Classical galactosemia Insight into molecular pathomechanisms by

2017-International clinical guideline for the management of classical galactosemia- diagnosis, treatment, and follow-up.

Evidence for Dopaminergic Denervation in Classical Galactosemia

2017 the diagnosis od cystic fibrosis

2017-Porphyria

2016.pdf-β-Thalassemia

2017-Sickle Cell Disease

PCR Primer Design

2017-Molecular Diagnosis of Thalassemias and Hemoglobinopathies- An ACLPS Critical Review

2017-Thalassemia

2017-Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia

2017- Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia – A Rare Variant.

2017-Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients

2015

SEMINARIO I Optimatization of PCR-Roux-S185-94

Seminario II- tema-17-2012-genetic-variation-and-clinical-heterogeneity-in-cystic-fibrosis

Seminario III- The Effect of Fructose on Renal Biology and Disease

Seminario IV-tema-5-2012-sindromedeleschnyhanreportedeuncasoclinico-espac3b1ol

Seminario V- tema-5-2012-adenosine-dopamine-and-serotonin-receptors-imbalance-in-lymphocytes-of-lesch-nyhan-patients

SEMINARIO VI tema-7-2012-detection-and-treatment-of-congenital-hypothyroidism

SEMINARIO VII tema-11-2011-diagnosis-classification-and-genetics-of-phenylketonuria-and-tetrahydrobiopterin

SEMINARIO VIII tema-13-2013-pancreatitis-aguda-por-hipertrigliceridemia

SEMINARIO IX tema-15-2015-epigenc3a9tica-en-la-arteriosclerosis

SEMINARIO X tema-17-nuclear-envelope-defects-in-musculardystrophy1

SEMINARIO XI tema-16-2014-from-sheep-to-mice-to-cells-tools-for-the-study-of-the-sphingolipidoses

Seminario XII- 2010-PCT when skin meets liver

Seminario XIII-The Pathogenesis and Therapy of Muscular Dystrophies

2013- Ineffective Erythropoiesis in beta-Thalassemia

2014:

Tema 1-2014-Guidelines for investigating causality of sequence variants in human disease

Tema 2-2014-Cancer as a metabolic disease implications for novel therapeutics

Tema 2- 2014-Autophagy and human disease- emerging themes

Tema 4- 2012-Liver function from Y to Z

Tema 5- 2012-SindromeDeLeschNyhanReporteDeUnCasoClinico-español

Tema 5- 2012- Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients

Tema 7- 2012-Detection and treatment of congenital hypothyroidism

Tema-10-Consenso-de-diagncstico-y-tratamiento-de-la-mucopolisacaridosis-de-tipo-i

Tema 11 – 2011-Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin

Tema 11-2013-Requirements for a minimum standard of care for phenylketonuria-the patients perspective

Tema 12-2013-The SLC3 and SLC7 families of amino acid transporters

Tema 12-2012-Cistinuria, mecanismos y tratamiento

Tema 12- 2013- Cystinuria an inborn cause of urolithiasis

Tema 13-2011-Genetic determinants of plasma triglycerides.

Tema 13-2013-Biochemistry and pathophysiology of intravascular and intracellular lipolysis

Tema 13- 2013-Pancreatitis aguda por hipertrigliceridemia

Tema 13- 2014- Xantomatosis eruptiva asociada a hiperlipoproteinemia tipo IV de Fredrickson

Tema 14- 2015- Hipercolesterolemia familiar homocigota-CONSENSO

Tema14-2011-Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination- implications for classification and disease risk.

Tema 15- 2015-Epigenética en la arteriosclerosis

Tema 16-2013-Niemann–Pick diseases

2012-My journey into the world of sphingolipids and sphingolipidoses

2013-Gangliosides and gangliosidoses-principles of molecular and metabolic pathogenesis

Tema 16- 2014-From sheep to mice to cells-Tools for the study of the sphingolipidoses

tema 17-Nuclear envelope defects in musculardystrophy

Tema 19-2013- Coming full circle in diabetes mellitus- from complications to initiation

Tema 20-2013-From obesity genetics to the future of personalized obesity therapy

BM-2012-Epigenetics and developmental programming of adult onset diseases

BM-2013- Epigenetics of gestational diabetes

2010-Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.

2010-Characterization of alpha thalassemic genotypes by MLPA

2013-The Molecular Basis of b-Thalassemia

2012-Biochemical and molecular characterization of GALT gene from Indian galactosemia patients

Tema 20- 2013-Cellular and molecular mechanisms of endothelial dysfunction in diabetes

Tema 18-2012-Genetic Variation and Clinical Heterogeneity in Cystic Fibrosis-