Abstract:
:Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. The index case is a patient who presented severe neonatal hyperglycemia (831 mg/dl, without ketosis) requiring continuous infusion of insulin, which was suspended after 48 hours with normalization of blood glucose. Subsequently, continuous glucose monitoring at 4 months of age revealed 47% of tissue glucose levels above 140 mg/dl, with fasting glucose levels between 120 and 166 mg/dl. The genetic analysis revealed a previously reported mutation in heterozygous state of the GCK gene (c.148C>T; p.His50Tyr). This mutation was also identified in more than one affected relative in the last two generations, with a transmission pattern suggestive of dominant inheritance. GCK gene sequencing led to a correct molecular diagnosis of MODY 2 while bioinformatic analysis indicated the possible molecular causes of the enzyme dysfunction. The knowledge of the molecular diagnosis allowed an adequate medical treatment for this disease.
journal_name
Rev Med Chiljournal_title
Revista medica de Chileauthors
Pollak C F,Lagos L M,Santos M JL,Poggi H,Urzúa C A,Rumié C Hdoi
10.4067/s0034-98872017000901203subject
Has Abstractpub_date
2017-09-01 00:00:00pages
1203-1207issue
9eissn
0034-9887issn
0717-6163pii
S0034-98872017000901203journal_volume
145pub_type
杂志文章abstract:BACKGROUND:In Chile, leukemia is one of the diseases whose treatment is guaranteed by a special law called AUGE (universal access and explicit guaranties). Therefore, the knowledge of its treatment costs is of utmost importance. AIM:To determine and to characterize the direct costs of pharmacotherapy for leukemia at a...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872009001200002
更新日期:2009-12-01 00:00:00
abstract::This article reports verbatim the National Development Plan for 1978-1983, issued by the Office of the President of the Chilean Republic, and by the Office of National Planning. The document states that an increase in population would be desirable; however, action toward such goal is to be taken by individual couples...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1979-06-01 00:00:00
abstract:BACKGROUND:The 2014 Guidelines for the Management of Patients with Valvular Heart Disease require to know the probability of success and operative mortality of Mitral Valve Repair (MVR) for Degenerative Mitral Insufficiency (DMI) at a given institution. AIM:To assess the probability of success, operative mortality and...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872015001000001
更新日期:2015-10-01 00:00:00
abstract::In the last decades, there has been an increase in life expectancy in the world, with the consequent modification in the proportion of adults over 60 years. This is accompanied by an increase in pathologies for which aging is the main risk factor, such as dementia and hearing loss, which profoundly affect the quality ...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872020000801128
更新日期:2020-08-01 00:00:00
abstract::Constrictive Pericarditis (CP) is an unusual disease. Its most common causes are idiopathic or secondary to cardiac surgery. Less frequently it is caused by connective tissue diseases. We report a 30 years old woman hospitalized due to progressive dyspnea, chest pain and signs of right sided heart failure. During her ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872014000800015
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:Aging is the main risk factor to acquire breast cancer (BC). Nevertheless BC in elderly patients is sub-represented in clinical trials. AIM:To describe the clinical characteristics and long term treatment results of localized BC in older women. MATERIAL AND METHODS:Review of medical records of 65 women age...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872013001200006
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:The place of death has changed and coverage of medical attention at death varies according to the development level of countries. AIM:To assess the evolution of coverage of medical attention of the last disease and place of death as indicators of health care quality and development level, in the sixth regio...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872007000800010
更新日期:2007-08-01 00:00:00
abstract:BACKGROUND:Exercise EKG is used as the test of choice in the diagnosis of coronary artery disease. Classical parameters are angor and ST depression representing myocardial ischemia. AIM:To correlate exercise EKG parameters with SPECT 201Thallium to know their likelihood ratios for ischemia. PATIENTS AND METHODS:Two h...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1998-05-01 00:00:00
abstract:BACKGROUND:Women in childbearing ages (WCBA) represent a strategic intervention group to reverse the global trend of increasing obesity. AIM:To conduct a review of studies reporting obesity prevalence in WCBA in Chile in the last 25 years. MATERIAL AND METHODS:To describe obesity prevalence, we used three approaches,...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:10.4067/S0034-98872014001100011
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND:Malnutrition has been strongly associated with morbidity and mortality in hemodialysis patients. In the other hand, dialysis allows a nutritional improvement in patients with more than 12 months in dialysis. AIM:To study the prevalence of malnutrition among patients in hemodialysis. PATIENTS AND METHODS:We...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Glycine inhibits the formation of advanced glycation end products that may cause central and peripheral neuronal damage, affecting also the auditory nerve. AIM:To evaluate the effect of glycine on auditory nerve conduction and hearing level among patients with type 2 diabetes mellitus and auditory neuropath...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872010001100006
更新日期:2010-10-01 00:00:00
abstract::We evaluated the concentration of cefotaxime in the exudate from ischemic leg ulcers in 9 subjects with severe obstructive arterial disease. The administration of the drug was either systemic (1 g in 250 ml of saline given in 30 min) or regional at a vein of the foot while a tourniquet was applied at the level of the ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1990-03-01 00:00:00
abstract:BACKGROUND:The classic diagnosis of Barret esophagus is based on the finding of three of more cm of distal esophagus covered by specialized columnar epithelium. However, at the present time, it is based on the presence of intestinal metaplasia in the junction of squamous-columnar mucosae. AIM:To assess the prevalence ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1998-02-01 00:00:00
abstract:BACKGROUND:Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness or inattentiveness. AIM:To search for differences in risk for ADHD and its components among Chilean native and mixed populations and to loo...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011000500006
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:Teenage pregnancy is a psychosocial and multifactorial problem described as a lack of exercise of rights in sexual and reproductive health. There are important aspects in the doctor-patient relationship and confidentiality that directly affect the continuity and quality of care. There are controversies in th...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016001000004
更新日期:2016-10-01 00:00:00
abstract::In a double blind study, 20 patients who presented with acute episodes of asthma were randomized to treatment with nebulized salbutamol (5 mg) of subcutaneous salbutamol (0.5 mg). The clinical conditions were not significantly different before or after treatment in both groups. Significant bronchial dilation was obtai...
journal_title:Revista medica de Chile
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1992-02-01 00:00:00
abstract:BACKGROUND:Maximal oxygen uptake is considered by the International Biological Programme as the international standard of cardiorespiratory adequacy and physical condition. AIM:To measure maximal oxygen uptake in normal Chilean subjects, to establish normal reference values. SUBJECTS AND METHODS:Maximal oxygen uptake...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1997-09-01 00:00:00
abstract:BACKGROUND:Framingham risk score (FRS) has limitations and can underestimate risk. Carotid ultrasound to measure intima media thickness or plaques is recommended for cardiovascular risk assessment. AIM:To determine the prevalence of subclinical atherosclerosis in asymptomatic subjects classified as low and intermediat...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016000100005
更新日期:2016-01-01 00:00:00
abstract::We report a 34-years-old male, with a history of hepatitis B and human immunodeficiency virus (HIV) infection that was admitted to the hospital with malaise, weight loss, frontal behavior and chest pain. Imaging studies showed two frontal cortical/subcortical nodules. A stereotactic cerebral biopsy showed reactive gli...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:/S0034-98872011000200012
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Autologous hematopoietic cell transplantation (THA) in patients with multiple myeloma and amyloidosis is the standard of care to promote disease free survival and quality of life. AIM:To report our experience with THA in patients with multiple myeloma. MATERIAL AND METHODS:Retrospective review of the hemat...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872014001200001
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Up to 20% of patients with pancreatic carcinoma subjected to a bilio digestive diversion, develop a delayed gastric emptying due to duodenal infiltration. However the role of prophylactic gastrojejunoanastomosis is not well defined. AIM:To compare the effects of gastrojejunoanastomosis performed as prophyla...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Low plasma HDL cholesterol levels are an independent risk factor for atherosclerotic cardiovascular disease. During the past years, the study of HDL has been stimulated by the discovery of novel genes and proteins, which have provided new insights into the molecular and cellular mechanisms involved in HDL metabolism. ...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
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更新日期:2005-07-01 00:00:00
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journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract::Tumorogenesis is associated with several events by which a normal cell transforms itself into a tumour cell with an increased proliferation rate. One of the most important research initiatives in this area is the characterization of the molecular mechanisms involved in tumorogenesis and cancer. Oncogenes and tumour su...
journal_title:Revista medica de Chile
pub_type: 杂志文章,评审
doi:
更新日期:2000-05-01 00:00:00
abstract::Infections caused by Listeria monocytogenes are usually found in cattle and occasionally appear in humans, particularly pregnant women and immunocompromised individuals. Peritonitis by Listeria monocytogenes is a rare but dangerous condition that must be recognized early, since it requires a specific treatment. We rep...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/s0034-98872006000900013
更新日期:2006-09-01 00:00:00
abstract::To study the effect of old age on phenytoin pharmacokinetics, twelve young and nine old adults aged 21.7 +/- 1.8 and 71.8 +/- 4.9 years respectively, were studied. No significant differences of phenytoin indicating the drug distribution and elimination does not change with aging. After oral administration, significant...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
abstract::The aim of this study was to look for pathological changes in the oral cavity in a group of 40 non cirrhotic male alcoholics, ranging in age from 30 to 40 years old. These subjects were compared with a group of 40 non alcoholic male subjects of similar age. The presence of lip, dental, periodontal, salivary gland and ...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1994-02-01 00:00:00
abstract:BACKGROUND:Atrial fibrillation (AF) generates a hypercoagulable state with an increased thrombin generation and raised levels of thrombin-antithrombin complexes, which results in a high risk of stroke and thromboembolism. AIM:To evaluate the anticoagulant effect of rivaroxaban by anti-Xa factor activity and its correl...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:10.4067/S0034-98872016000900002
更新日期:2016-09-01 00:00:00
abstract::The aim of this work was to analyze the global incidence of congenital malformations at the Maternity of University of Chile Clinical Hospital in the periods between 1971 and 1977 and between 1982 and 1992. A significant and sustained increase in incidence was observed in the first period from 10.64 per 1000 born aliv...
journal_title:Revista medica de Chile
pub_type: 杂志文章
doi:
更新日期:1993-09-01 00:00:00
abstract::This is a translation into Spanish, done by Mario Uribe, M.D., F.A.C.S., and authorized by the Conference Organization, of the official statements signed by The Transplantation Society, The International Society of Nephrology and the representatives who participated at a WHO sponsored Conference held in Istambul, Turk...
journal_title:Revista medica de Chile
pub_type: 共识发展会议,杂志文章
doi:10.4067/S0034-98872009000800019
更新日期:2009-08-01 00:00:00