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1.
Ann Hepatol ; 28(4): 100751, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36002119

RESUMO

Nonalcoholic fatty liver disease (NAFLD) is currently the most common cause of chronic liver disease worldwide affecting a third of adults and 12% of children in Western countries. In around 50-60%% of cases, NAFLD and type 2 diabetes mellitus (T2DM) coexist and act synergistically to increase the risk of adverse hepatic and extra-hepatic outcomes. T2DM is a strong risk factor for rapid progression of NAFLD to nonalcoholic steatohepatitis (NASH), cirrhosis or hepatocellular carcinoma (HCC), which have become frequent indications of liver transplantation. The pathophysiology of NAFLD is complex and its relationship with T2DM is bidirectional, where lipotoxicity and insulin resistance (IR), act as the strongest pillars. To date, no pharmacological treatment has been approved for NAFLD. However, there is an intense research with numerous drugs focused on reversing inflammation and liver fibrosis through modulation of molecular targets without good results. It has been known for some time that weight reduction >10% is associated to histological improvement of NAFLD. Recently, glycemic control has been shown to induce similar results. Diet and physical exercise for weight reduction have limitations, so alternative methods (pharmacologic, endoscopic or surgical) may be required. Currently, new antidiabetic drugs inducing weight loss, have been recently approved for the treatment of obesity. Nevertheless, their therapeutic effects on NAFLD have not been extensively studied. We will review here, recently published data on the effects of weight loss and glycemic control on the histological and metabolic parameters of NAFLD and recent published data on therapeutic studies of NAFLD with new antidiabetic drugs.


Assuntos
Carcinoma Hepatocelular , Diabetes Mellitus Tipo 2 , Neoplasias Hepáticas , Hepatopatia Gordurosa não Alcoólica , Criança , Humanos , Hepatopatia Gordurosa não Alcoólica/complicações , Hipoglicemiantes/efeitos adversos , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Carcinoma Hepatocelular/complicações , Controle Glicêmico , Neoplasias Hepáticas/complicações , Cirrose Hepática/complicações , Redução de Peso
2.
J Eur Acad Dermatol Venereol ; 37(2): 340-347, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36184894

RESUMO

BACKGROUND: Psoriasis is strongly associated with insulin resistance (IR). Lipid profile disturbances and upregulation of enzymes crucial for fatty acid oxidation have been reported in patients with psoriasis. Mitochondrial ß-oxidation is altered in patients with IR. Common mitochondrial dysfunction may be involved in the origin of both diseases. OBJECTIVE: This study aimed to evaluate mitochondrial ß-oxidation, intermediary metabolism, and mitochondrial content in psoriatic patients with or without IR and compare them to healthy controls. METHODS: The participants were divided into three groups: (1) psoriasis and IR (n = 26); (2) psoriasis without IR (n = 17); and (3) healthy controls (n = 17). Quantification of amino acids and acylcarnitines (AC) by tandem mass spectrometry, determination of urinary organic acids by gas chromatography/mass spectrometry (GC/MS), and mitochondrial DNA quantification were performed in all groups. RESULTS: When comparisons were made between the two psoriatic groups, no differences were found between: C5DC + C6OH, C16:1, Met/Leu, Met/Phe, C16:1/C16, and C5DC + C6OH/C4DC + C5OH ratios. Nine analytes were different: phenylalanine, Cit/Phe, and Cit/Tyr ratios, C0, C3, C5, C6DC, C16, and C18:1OH. There were no correlations between psoriasis area and severity index (PASI), body mass index (BMI) and duration of disease with ACs. A higher proportion of patients with psoriasis showed increased urine levels of uric acid and hippuric acid (p = 0.01). The mtDNA content was significantly higher in cases than in controls, with no differences between IR and non-IR psoriatic patients. CONCLUSIONS: Psoriasis patients with and without IR have a different acylcarnitine profile reflecting impaired ß-oxidation. A distinctive profile of acylcarnitines suggests an involvement of mitochondrial function associated with an increase in stearoyl CoA desaturase (SCD) activity in psoriatic patients with and without IR.


Assuntos
Resistência à Insulina , Psoríase , Humanos , Aminoácidos , Mitocôndrias
3.
Ann Hepatol ; 19(3): 258-264, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32063504

RESUMO

INTRODUCTION: Cirrhosis and liver cancer are currently common causes of death worldwide. The global epidemic of obesity has increased the incidence of nonalcoholic fatty liver disease (NAFLD) and cirrhosis in recent years. Advanced fibrosis increases the morbimortality rate in NAFLD. The Mexican population has one of the highest prevalence of obesity and diabetes mellitus (DM) worldwide. AIM: To determine the prevalence of advanced liver fibrosis in Mexican general population. METHODS: Adult individuals, without a history of liver disease nor heavy alcohol consumption were randomly sampled from 20,919 participants of a health and nutrition survey applied to the general population. Clinical and laboratory evaluations were performed to calculate the NAFLD fibrosis score (NFS) (an extensively validated non-invasive method). Two cut-off points were used. Advanced fibrosis was defined as a result >0.676. RESULTS: In total 695 individuals were included. The mean age was 47.8±16.4. The majority were between 20 and 50 years (59%), 70.2% were female, 35.5% showed obesity and 15.8% DM. The 93% had normal serum ALT. Based on the NFS results, 56 individuals (8.1%) had a high probability of fibrosis. Most patients from this subgroup showed normal serum ALT (92.9%), 89.3% were >45yr. old, 52% were obese and 27% suffered from DM. CONCLUSIONS: Based on these results, 8.1% of Mexican general population without a history of liver disease is at high risk of having advanced liver fibrosis and complications and death derived from cardiovascular disease and cirrhosis. Most of them showed normal ALT serum levels.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Obesidade/epidemiologia , Adulto , Idoso , Alanina Transaminase/sangue , Aspartato Aminotransferases/sangue , Feminino , Humanos , Cirrose Hepática , Masculino , Programas de Rastreamento , México/epidemiologia , Pessoa de Meia-Idade , Hepatopatia Gordurosa não Alcoólica/sangue , Hepatopatia Gordurosa não Alcoólica/diagnóstico por imagem , Contagem de Plaquetas , Prevalência , Albumina Sérica/metabolismo
4.
Gac Med Mex ; 153(5): 559-565, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-29099117

RESUMO

Objective: The purpose of this study is to establish the prevalence of vitamin D deficiency and their newborns and analyze the risk factors related to this deficiency. Methods: This is an observational, transversal, and prospective study. It included 191 puerperal women and their full-term newborns. Serum 25 hydroxyvitamin D values were analyzes by enzyme immunoassay. Results: 61% of the puerperal presented deficiency and 26% insufficiency of vitamin D. In the newborn group 98% showed deficiency and 66% of them presented severe deficiency. There is a positive correlation between the values of vitamin D in mothers and their newborns (r2 = 0.173 ng/ml; p = 0.017). The lowest levels were in autumn. (15.75 ng/mL mothers, 6 ng/mL newborns). There was no correlation between vitamin D levels in mothers and their dietary intake, maternal skin type, sun time exposure and prenatal body mass index. Conclusions: This is the first study that shows the existence of a high deficiency of vitamin D in Mexican mothers and their newborns.


Assuntos
Mães/estatística & dados numéricos , Deficiência de Vitamina D/epidemiologia , Vitamina D/análogos & derivados , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Técnicas Imunoenzimáticas , Recém-Nascido , Prevalência , Estudos Prospectivos , Fatores de Risco , Estações do Ano , Índice de Gravidade de Doença , Vitamina D/sangue , Deficiência de Vitamina D/etnologia , Adulto Jovem
5.
Dig Dis Sci ; 61(2): 371-80, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26462490

RESUMO

Hereditary type 2 diabetes mellitus is a risk factor for chronic liver disease, and ~30 % of patients with liver cirrhosis develop diabetes. Diabetes mellitus has been associated with cirrhotic and non-cirrhotic hepatitis C virus liver infection, can aggravate the course the liver infection, and can induce a lower sustained response to antiviral treatment. Evidences that HCV may induce metabolic and autoimmune disturbances leading to hypobetalipoproteinemia, steatosis, insulin resistance, impaired glucose tolerance, thyroid disease, and gonadal dysfunction have been found. Prospective studies have demonstrated that diabetes increases the risk of liver complications and death in patients with cirrhosis. However, treatment of diabetes in these patients is complex, as antidiabetic drugs can promote hypoglycemia and lactic acidosis. There have been few therapeutic studies evaluating antidiabetic treatments in patients with liver cirrhosis published to date; thus, the optimal treatment for diabetes and the impact of treatment on morbidity and mortality are not clearly known. As numbers of patients with chronic liver disease and diabetes mellitus are increasing, largely because of the global epidemics of obesity and nonalcoholic fatty liver disease, evaluation of treatment options is becoming more important. This review discusses new concepts on hepatogenous diabetes, the diabetes mellitus­hepatitis C virus association, and clinical implications of diabetes mellitus in patients with chronic liver disease. In addition, the effectiveness and safety of old and new antidiabetic drugs, including incretin-based therapies, will be described.


Assuntos
Diabetes Mellitus/patologia , Doença Hepática Terminal/complicações , Hepatite C/complicações , Doença Hepática Terminal/patologia , Hepacivirus/isolamento & purificação , Hepatite C/patologia , Humanos
6.
Ann Hepatol ; 14(6): 780-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26436350

RESUMO

About 80% of patients with liver cirrhosis may have glucose metabolism disorders, 30% show overt diabetes mellitus (DM). Prospective studies have demonstrated that DM is associated with an increased risk of hepatic complications and death in patients with liver cirrhosis. DM might contribute to liver damage by promoting inflammation and fibrosis through an increase in mitochondrial oxidative stress mediated by adipokines. Based on the above mentioned the effective control of hyperglycemia may have a favorable impact on the evolution of these patients. However, only few therapeutic studies have evaluated the effectiveness and safety of antidiabetic drugs and the impact of the treatment of DM on morbidity and mortality in patients with liver cirrhosis. In addition, oral hypoglycemic agents and insulin may produce hypoglycemia and lactic acidosis, as most of these agents are metabolized by the liver. This review discusses the clinical implications of DM in patients with chronic liver disease. In addition the effectiveness and safety of old, but particularly the new antidiabetic drugs will be described based on pharmacokinetic studies and chronic administration to patients. Recent reports regarding the use of the SGLT2 inhibitors as well as the new incretin-based therapies such as injectable glucagon-like peptide-1 (GLP-1) receptor agonists and oral inhibitors of dipeptidylpeptidase-4 (DPP-4) will be discussed. The establishment of clear guidelines for the management of diabetes in patients with CLD is strongly required.


Assuntos
Glicemia/efeitos dos fármacos , Diabetes Mellitus/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Hepatopatias/sangue , Fígado/metabolismo , Animais , Biomarcadores/sangue , Glicemia/metabolismo , Doença Crônica , Comorbidade , Diabetes Mellitus/sangue , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiologia , Humanos , Hipoglicemiantes/efeitos adversos , Hipoglicemiantes/farmacocinética , Hepatopatias/diagnóstico , Hepatopatias/epidemiologia , Fatores de Risco , Índice de Gravidade de Doença , Resultado do Tratamento
7.
BMC Endocr Disord ; 14: 32, 2014 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-24721620

RESUMO

BACKGROUND: Seminomas have been rarely associated with malignant hypercalcemia. The responsible mechanism of hypercalcemia in this setting has been described to be secondary to 1,25-dihydroxyvitamin D secretion. The relationship with PTHrP has not been determined or studied.The aim of this study is to describe and discuss the case and the pathophysiological mechanisms involved in a malignant hypercalcemia mediated by 1,25-dihydroxyvitamin D and PTHrP cosecretion in a patient with seminoma. CASE PRESENTATION: A 35-year-old man was consulted for assessment and management of severe hypercalcemia related to an abdominal mass. Nausea, polyuria, polydipsia, lethargy and confusion led him to the emergency department. An abdominal and pelvic enhanced CT confirmed a calcified pelvic mass, along with multiple retroperitoneal lymphadenopathy. Chest x-ray revealed "cannon ball" pulmonary metastases. The histopathology result was consistent with a seminoma. Serum calcium was 14.7 mg/dl, PTH was undetectable, 25-dihydroxyvitamin D was within normal values and PTHrP and 1,25-dihydroxyvitamin were elevated (35.0 pg/ml, and 212 pg/ml, respectively). After the first cycle of chemotherapy with bleomycin, etoposide and cisplatin, normocalcemia was restored. Both PTHrP and 1,25-dihydroxyvitamin D, dropped dramatically to 9.0 pg/ml and 8.0 pg/ml, respectively. CONCLUSION: The association of seminoma and malignant hypercalcemia is extremely rare. We describe a case of a patient with a seminoma and malignant hypercalcemia related to paraneoplastic cosecretion of 1,25-dihydroxyvitamin D and PTHrP. After successful chemotherapy, calcium, PTHrP and 1,25-Dihydroxyvitamin D returned to normal values.


Assuntos
Hipercalcemia/etiologia , Neoplasias Pulmonares/etiologia , Síndromes Paraneoplásicas/etiologia , Proteína Relacionada ao Hormônio Paratireóideo/efeitos adversos , Seminoma/complicações , Neoplasias Testiculares/complicações , Vitamina D/análogos & derivados , Adulto , Humanos , Hipercalcemia/sangue , Hipercalcemia/patologia , Hipercalcemia/terapia , Neoplasias Pulmonares/sangue , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/terapia , Masculino , Síndromes Paraneoplásicas/sangue , Síndromes Paraneoplásicas/patologia , Síndromes Paraneoplásicas/terapia , Hormônio Paratireóideo/sangue , Proteína Relacionada ao Hormônio Paratireóideo/sangue , Prognóstico , Seminoma/sangue , Seminoma/patologia , Neoplasias Testiculares/sangue , Neoplasias Testiculares/patologia , Vitamina D/efeitos adversos , Vitamina D/sangue
8.
J Perinat Med ; 42(5): 649-54, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24572974

RESUMO

AIMS: To assess placental transfer of antibodies to the child at birth and at 2 months of age. MATERIALS AND METHODS: For the quantification of anti-PT IgG antibodies, we used an indirect enzyme-linked immunosorbent assay standardized by The National Institute of Epidemiologic Diagnosis and Reference (InDRE). Samples were considered negative from 0 to 48 IU/mL, indeterminate from 49 to 93 IU/mL and positive at ≥94 IU/mL. We performed a cross-sectional assessment of anti-PT IgG antibody levels in the mother, umbilical cord, and child. RESULTS: There was a higher concentration of IgG anti-TP in the umbilical cord (4.3%) and in the mother (1.4%), but a total absence was observed in the child (0%). CONCLUSION: The vulnerability of children to Bordetella pertussis shows the need to implement effective immunization strategies, whether actively, in the child, or passively through the mother, adolescents, and adults who are in contact with the child.


Assuntos
Anticorpos Antibacterianos/sangue , Bordetella pertussis/imunologia , Imunidade Materno-Adquirida , Gravidez/imunologia , Coqueluche/imunologia , Coqueluche/prevenção & controle , Adolescente , Adulto , Estudos Transversais , Ensaio de Imunoadsorção Enzimática , Feminino , Sangue Fetal/imunologia , Humanos , Imunoglobulina G/sangue , Lactente , Recém-Nascido , México , Adulto Jovem
9.
Salud Publica Mex ; 55(5): 462-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24626616

RESUMO

OBJECTIVE: To compare the concordance correlation coefficient for HbA1c results in an in-field experience. MATERIALS AND METHODS: A prospective study in Monterrey, Mexico from April to August 2012 was conducted to evaluate the day-to-day clinical situation when measuring HbA1c. Blood samples from 38 consecutive patients were sent to seven local laboratories and one international reference laboratory. RESULTS: Poor concordance was found in 4 out of 7 laboratories, moderate in 2 out of 7, and significant in just one. HbA1c values from three laboratories fluctuated more than 1% above or below the reference laboratory in more than 30% of cases, and more than 2% in 10%-20% of subjects. CONCLUSIONS: Standardized HbA1c measurement has not occurred worldwide. Physicians should be aware of this issue and be cautious of HbA1c guidelines on diabetes diagnosis or management until proper standardization programs are implemented.


Assuntos
Diabetes Mellitus/sangue , Diabetes Mellitus/terapia , Hemoglobinas Glicadas/análise , Adulto , Idoso , Feminino , Testes Hematológicos , Humanos , Masculino , México , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Adulto Jovem
10.
Ann Hepatol ; 11(2): 240-8, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22345342

RESUMO

AIMS: To define the prevalence and clinical characteristics of glucose metabolism disorders (GMD) in patients with compensated liver cirrhosis (LC). MATERIAL AND METHODS: Fasting plasma glucose (FPG) levels were measured to 130 patients with clinically stable LC. Oral glucose tolerance tests (OGTT) and fasting plasma insulin determinations were performed to patients with normal FPG. Insulin resistance (IR) was calculated with HOMA2-IR index. GMD were classified according to FPG and OGTT tests results and to the chronologic relation between diagnosis of diabetes mellitus (DM) and LC as follows: type-2 DM (T2DM), hepatogenous diabetes (HD) and impaired glucose tolerance. Patients from all groups were compared. RESULTS: The prevalence of GMD were as follows: T2DM in 25 patients (19.2%, 95% CI 12.5-25.9), HD in 28 (21.5%, 95% CI 14.5-28.5) and IGT in 36 (38.5%, 95% CI 30.1-46.7). The total of patients with GMD was 79.2% (95% CI 72.3-86.1). In 41% of cases GMD were subclinical and 48.7% of patients had IR. Patients with T2DM had a higher number of variables with significant differences compared with the other groups (more marked compared to the patients without GMD). The only differences between the patients with T2DM and HD were hypercreatininemia: 1.14 ± 0.53 vs. 0.84 ± 0.22 mg/dL (p = 0.005) and family history of DM: 8 (32%) vs. 2 (7%) (p = 0.02). CONCLUSION: Almost 80% of patients with compensated LC had GMD. Half of them were subclinical. The patients with T2DM had marked clinical differences compared to patients from the other groups, particularly renal impairment.


Assuntos
Diabetes Mellitus Tipo 2 , Intolerância à Glucose , Transtornos do Metabolismo de Glucose , Resistência à Insulina , Cirrose Hepática , Adulto , Idoso , Glicemia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Intolerância à Glucose/complicações , Intolerância à Glucose/epidemiologia , Transtornos do Metabolismo de Glucose/complicações , Transtornos do Metabolismo de Glucose/epidemiologia , Transtornos do Metabolismo de Glucose/fisiopatologia , Teste de Tolerância a Glucose , Humanos , Insulina/sangue , Rim/fisiopatologia , Cirrose Hepática/complicações , Cirrose Hepática/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
11.
World J Gastroenterol ; 28(8): 775-793, 2022 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-35317103

RESUMO

Diabetes mellitus (DM) is common in liver cirrhosis (LC). The pathophysiological association is bidirectional. DM is a risk factor of LC and LC is a diabetogenic condition. In the recent years, research on different aspects of the association DM and LC has been intensified. Nevertheless, it has been insufficient and still exist many gaps. The aims of this review are: (1) To discuss the latest understandings of the association of DM and LC in order to identify the strategies of early diagnosis; (2) To evaluate the impact of DM on outcomes of LC patients; and (3) To select the most adequate management benefiting the two conditions. Literature searches were conducted using PubMed, Ovid and Scopus engines for DM and LC, diagnosis, outcomes and management. The authors also provided insight from their own published experience. Based on the published studies, two types of DM associated with LC have emerged: Type 2 DM (T2DM) and hepatogenous diabetes (HD). High-quality evidences have determined that T2DM or HD significantly increase complications and death pre and post-liver transplantation. HD has been poorly studied and has not been recognized as a complication of LC. The management of DM in LC patients continues to be difficult and should be based on drug pharmacokinetics and the degree of liver failure. In conclusion, the clinical impact of DM in outcomes of LC patients has been the most studied item recently. Nevertheless many gaps still exist particularly in the management. These most important gaps were highlighted in order to propose future lines for research.


Assuntos
Diabetes Mellitus Tipo 2 , Hepatopatias , Falência Hepática , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiologia , Humanos , Cirrose Hepática/complicações , Cirrose Hepática/diagnóstico , Cirrose Hepática/terapia , Hepatopatias/complicações , Hepatopatias/diagnóstico , Hepatopatias/terapia , Falência Hepática/complicações , Fatores de Risco
12.
Arch Endocrinol Metab ; 65(6): 852-857, 2021 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-33740338

RESUMO

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors that result in the uncontrolled release of catecholamines and secondary hypertension. They usually manifest with episodic blood pressure fluctuations, headaches and palpitations. In some cases PPGLs may be asymptomatic until they are detected as a diagnostic approach to other diseases. There have been reports that have associated PPGLs with arterial thrombosis, some with the additional finding of intracardiac thrombi. We present the case of a 21-year-old male Hispanic patient with a recurrent para-aortic paraganglioma detected by persistent hypertension, bilateral lower limb artery thrombosis and an intracardiac thrombus.


Assuntos
Neoplasias das Glândulas Suprarrenais , Paraganglioma , Feocromocitoma , Trombose , Adulto , Humanos , Masculino , Recidiva Local de Neoplasia , Paraganglioma/complicações , Trombose/diagnóstico por imagem , Adulto Jovem
13.
J Family Reprod Health ; 15(4): 236-241, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35340801

RESUMO

Objective: Subfertility is commonly observed in patients with rheumatoid arthritis (RA). Although the causes are not well established, the alteration of the ovarian reserve is thought to contribute to the lower chances of pregnancy. This cross-sectional study aimed to evaluate the ovarian reserve in patients with RA. Materials and methods: Two parameters associated with ovarian reserves such as the antral follicle count (AFC) and the anti-müllerian hormone (AMH) were assessed in 38 patients with RA. We also analyzed the correlation of these parameters with the medication used to treat this pathology and with the illness severity. Results: The AMH levels in women with RA were comparable to those found on healthy individuals although the RA patients were more likely to have a low AFC. Ovarian reserve and RA were neither influenced by parameters of disease activity nor by the use of medication. Conclusion: The ovarian reserve in women with RA was similar to that found in healthy individuals.

14.
Biomed Rep ; 13(4): 24, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32765863

RESUMO

Hypokalemic periodic paralysis type 1 (OMIM; HOKPP1) and type 2 (OMIM; HOKPP2) are diseases of the muscle characterized by episodes of painless muscle weakness, and is associated with low potassium blood levels. Hyperthyroidism has been associated with thyrotoxic periodic paralysis (TTPP) (OMIM; TTPP1 and TTPP2), and genetic susceptibility has been implicated. In the present study, the clinical and epidemiological characteristics of patients with TTPP are described, together with their association with genetic variants reported previously in other populations. A prospective and a retrospective search of the medical records of patients who attended the emergency department at the Hospital Universitario 'Dr. Jose E. Gonzalez' in Monterrey, Nuevo León, Mexico, and were diagnosed with TTPP was performed. A total of 16 gene variants in the genes MUC1, CACNA1S, KCNE3 and SCN4A, and nine ancestry informative markers (AIMs), were analysed by Multiplex TaqMan™ Open Array assay, and a genetic association study was performed. A total of 11 patients were recruited, comprising nine males and two females (age range, 19-52 years) and 64 control subjects. Only two cases (18%) had a previous diagnosis of hyperthyroidism; the rest were diagnosed subsequently with Graves' disease. Based on the analysis, two DNA variants were found to potentially confer an increased risk for TTPP: S1PR1 rs3737576 [odds ratio (OR), 4.38; 95% confidence interval (CI), 1.08-17.76] and AIM rs2330442 (OR, 4.50; 95% CI, 1.21-16.69), and one variant was suggested to be possibly associated with TTPP, namely MUC1 rs4072037 (OR, 3.08; 95% CI, 0.841-1.38). However, there were no statistically significant associations between any of the 24 DNA variants and TTPP in a population from northeast Mexico.

15.
Genet Test Mol Biomarkers ; 24(6): 352-358, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32423256

RESUMO

Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials and Methods: Gene doses of SHOX, VAMP7, and SRY were determined by quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples from newborns. Relative quantification values were obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 gene doses (out of range) were reanalyzed, and those with aneuploidy profiles were confirmed by karyotyping. Sensitivity, specificity, and positive and negative predictive values were obtained. Results: A total of 10,033 samples were collected (4945 females and 5088 males). Of 244 (2.43%) samples with ≥2 gene doses that were retested, 20 cases were confirmed. The overall incidence of SCAs was 1 in 500 live newborns. There were six cases of Turner syndrome (1/824), 3 cases of XXX (1/1648), 7 cases of Klinefelter syndrome (1/726), and 4 cases of of XYY (1/1272). The sensitivity was 0.952 (95.42%); the specificity was 0.975 (97.56%); the positive predictive value was 0.909 (90.91%) and the negative predictive value was 0.987 (98.77%). Conclusions: Gene copy number analyses of the VAMP7, SHOX, and SRY genes by qPCR from blood samples spotted onto filter paper is a highly reliable method for the early detection of male and female SCAs.


Assuntos
Triagem Neonatal/métodos , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Aneuploidia , Cromossomos Humanos X , Variações do Número de Cópias de DNA/genética , Feminino , Dosagem de Genes , Humanos , Recém-Nascido , Cariotipagem/métodos , Síndrome de Klinefelter/diagnóstico , Masculino , México , Diagnóstico Pré-Natal/métodos , Proteínas R-SNARE/genética , Aberrações dos Cromossomos Sexuais , Cromossomos Sexuais/genética , Proteína da Região Y Determinante do Sexo/genética , Proteína de Homoeobox de Baixa Estatura/genética , Trissomia/diagnóstico , Síndrome de Turner/diagnóstico
16.
Clin Endocrinol (Oxf) ; 71(4): 494-9, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19094069

RESUMO

BACKGROUND: Epidemiological studies have associated androgenetic alopecia (AGA) with severe young-age coronary artery disease and hypertension, and linked it to insulin resistance. We carried out a case-control study in age- and weight-matched young males to study the link between AGA and insulin resistance using the homeostasis model assessment of insulin resistance (HOMA-IR) index or metabolic syndrome clinical manifestations. METHODS: Eighty young males, 18-35 years old, with AGA > or = stage III in the Hamilton-Norwood classification, and 80 weight- and age-matched controls were included. Alopecia, glucose, serum insulin, HOMA-IR index, lipid profile and androgen levels, as well as metabolic syndrome criteria, were evaluated. RESULTS: The HOMA-IR index was significantly higher in cases than controls. Nonobese cases had a higher mean diastolic blood pressure and a more frequent family history of AGA than nonobese controls. A borderline difference in the HOMA-IR index was found in obese AGA cases vs. obese controls [P = 0.055, 95% confidence interval (CI) 2.36-4.20 vs. 1.75-2.73]. Free testosterone values were significantly higher in controls than cases, regardless of body mass index (BMI). A statistically significant additive effect for obesity plus alopecia was found, with significant trends for insulin, the HOMA-IR index, lipids and free testosterone when BMI and alopecia status were used to classify the participants. CONCLUSIONS: Our results support the recommendation for assessing insulin resistance and cardiovascular-related features and disorders in all young males with stage III or higher AGA, according to the Hamilton-Norwood classification.


Assuntos
Alopecia/fisiopatologia , Resistência à Insulina/fisiologia , Adolescente , Adulto , Fatores Etários , Alopecia/complicações , Glicemia/metabolismo , Estudos de Casos e Controles , Humanos , Hiperinsulinismo/complicações , Lipídeos/sangue , Masculino , Síndrome Metabólica/complicações
17.
Obes Res Clin Pract ; 13(2): 164-167, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30745226

RESUMO

BACKGROUND: Obesity is a growing epidemic associated with a 30% increase in general mortality. Despite this, diagnosis and treatment is still deficient. A large number of patients with overweight and obesity enter hospitals daily; therefore, the hospital setting could be used as a scenario for intervention in this population. OBJECTIVES: To determine the frequency of diagnosis and treatment of overweight/obesity in hospitalized patients and to identify the factors involved in the probability of offering a diagnosis and treatment. METHODS: Cross-sectional data from 316 patients aged 18 years and over admitted in the Department of Internal Medicine during 2016-2017 period. Logistic regression was used to estimate the relationship between the possible predictors and the diagnosis of overweight and/or obesity and the development of a treatment. RESULTS: Only 10.8% of the population was diagnosed (overweight 2.6%, obesity 18.8%). Patients with a BMI >40kg/m2 had a greater probability of being diagnosed (OR=1.87; 95% CI, 2.2-19.4; p=0.001). Only 4.4% of the population received treatment (overweight 3.2%, obesity 5.6%) and the only factor that increased the probability of receiving treatment was having been diagnosed with overweight/obesity in the medical record (OR=2.28; 95% CI, 2.31-41.94; p=0.002). DISCUSSION: Despite the high prevalence of overweight and obesity among hospitalized patients, there is no adequate diagnosis and treatment. Future research should be directed at strategies that increase medical recognition of overweight/obesity as well as identifying the long-term benefits of diagnosing overweight/obesity for the reduction and control of body weight.


Assuntos
Hospitalização , Obesidade/diagnóstico , Sobrepeso/diagnóstico , Planejamento de Assistência ao Paciente , Adulto , Idoso , Índice de Massa Corporal , Comorbidade , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/fisiopatologia , Obesidade/terapia , Sobrepeso/fisiopatologia , Sobrepeso/terapia , Programas de Redução de Peso
18.
Endocrinol Diabetes Nutr (Engl Ed) ; 66(1): 35-40, 2019 Jan.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30341033

RESUMO

BACKGROUND AND OBJECTIVE: Increased visceral adipose tissue mass is strongly associated to metabolic disorders. Visfatin is a visceral fat adipocytokine. There is epidemiological evidence of a link between a suboptimal gestational environment and a greater propensity to develop metabolic disease in adult life. The objective of this study was to establish whether visfatin concentrations in umbilical cord blood are different in newborns small for gestational age (SGA), appropriate for gestational age (AGA), and large for gestational age (LGA). SUBJECTS AND METHODS: Term newborns from an university medical center were included in the study. A blood sample was taken from the umbilical cord vein of each baby immediately after birth. Visfatin was measured using an enzyme immunoassay in the study population, consisting of 35 subjects in the SGA group, 58 in the AGA group, and 35 in the LGA group. RESULTS: Cord blood visfatin concentrations were not different in the three groups, with respective values of 2.78 (1.86-4.49) ng/mL, 3.28 (1.98-4.97) ng/mL, and 3.46 (2.48-5.38) ng/mL in the SGA, AGA and LGA groups (p=0.141). Gestational weight gain (GWG) (14.09±6.37kg) was negatively associated to visfatin levels (r=-0.218, p=0.036). GWG is an independent predictor of visfatin concentrations (r2=-0.067, p=0.027). CONCLUSIONS: There were no differences in cord blood visfatin concentrations depending on birth weight. GWG is an independent predictor of visfatin levels in the cord blood of term newborns.


Assuntos
Peso ao Nascer , Sangue Fetal/química , Nicotinamida Fosforribosiltransferase/sangue , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino
19.
Rev Alerg Mex ; 65(4): 362-371, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30602206

RESUMO

BACKGROUND: Decreased levels of vitamin D influence on the control and severity of asthma. OBJECTIVE: To evaluate the relationship between vitamin D serum levels and asthma control, as well as nutritional status, quality of life and patient comorbidities. METHODS: Cross-sectional, observational, descriptive study of 43 asthmatic patients older than 18 years of age. Multiple logistic and multiple linear regression multivariate analyses of variance were performed; a p-value ≤ 0.05 was considered to be statistically significant. RESULTS: Insufficient vitamin D levels were determined in 83.7 % of patients; 93 % had at least one asthma exacerbation in the previous year. There was no relationship between vitamin D serum levels and asthma control as measured by ACT and FEV1. There was a significant association between body mass index and vitamin D levels (p = 0.013). With a quality of life questionnaire for asthmatic adults, 76.7 % were recorded to have a poor quality of life. CONCLUSIONS: No relationship was observed between vitamin D serum levels and asthma control in the patients. Most patients had insufficient vitamin D serum levels, uncontrolled asthma, and poor quality of life. Overweight and grade I obesity were associated with vitamin D insufficient levels.


Antecedentes: Los niveles disminuidos de vitamina D influyen en el control y la gravedad del asma. Objetivo: Evaluar la relación entre niveles séricos de vitamina D y control del asma, así como estado nutricional, calidad de vida y comorbilidades del paciente. Métodos: Estudio transversal, observacional y descriptivo de 43 pacientes asmáticos mayores de 18 años. Se realizó análisis de varianza multivariados de regresión logística múltiple y lineal múltiples; se consideró estadísticamente significativa una p ≤ 0.05. Resultados: Se determinaron niveles insuficientes de vitamina D en 83.7 % de los pacientes; 93 % presentó al menos una exacerbación asmática en el último año. No se evidenció relación entre los niveles séricos de vitamina D y control del asma medido por el Asthma Control Test (ACT) y el volumen espiratorio forzado el primer segundo (FEV1). Se obtuvo asociación significativa entre el índice de masa corporal y niveles de vitamina D (p = 0.013). Con un cuestionario de calidad de vida en adultos asmáticos se registró que 76.7 % tenía mala calidad de vida. Conclusiones: No se observó relación entre los niveles séricos de vitamina D y el control del asma en los pacientes. La mayoría de los pacientes tenía niveles séricos de vitamina D insuficientes, asma descontrolada y mala calidad de vida. El sobrepeso y la obesidad grado I se asociaron con niveles insuficientes de vitamina D.


Assuntos
Asma/sangue , Asma/prevenção & controle , Vitamina D/sangue , Adulto , Estudos Transversais , Feminino , Humanos , Masculino
20.
SAGE Open Med ; 6: 2050312118769930, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29760917

RESUMO

OBJECTIVES: Type 2 diabetes mellitus studies focus on metabolic indicators and different self-reported lifestyle or care behaviors. Self-reported instruments involve conscious process therefore responses might not reflect reality. Meanwhile implicit responses involve automatic, unconscious processes underlying social judgments and behavior. No studies have explored the combined influence of both metabolic indicators and implicit responses on lifestyle practices in type 2 diabetes mellitus patients. The purpose was to investigate the explained variance of socio-demographic, metabolic, anthropometric, clinical, psychosocial, cognitive, and lifestyle variables on glycemic status and on the ability to adapt to changing demands in people with and without type 2 diabetes mellitus in Monterrey, Mexico. METHODS: Adults with (n = 30, mean age 46.90 years old, 33.33% male) and without (n = 32, mean age: 41.69 years old, 21.87% male) type 2 diabetes mellitus were studied. Glycemic status was assessed using Bio-Rad D-10 Hemoglobin A1c Program, which uses ion-exchange high-performance chromatography. Stroop 2 test was used to assess the ability to changing demands. RESULTS: In participants with type 2 diabetes mellitus, less years of education, negative self-actualization, and higher levels of cholesterol and triglycerides explained more than 50% of the variance in glycemic status. In participants without type 2 diabetes mellitus, the variance (38.7%) was explained by total cholesterol, metabolic syndrome, high-density lipoprotein, and self-actualization scores; the latter in opposite direction. The ability to adapt to changing demands was explained by total cholesterol, malondialdehyde, insulin resistance, and triglycerides. In participants without type 2 diabetes mellitus, the contributing variables were metabolic syndrome and nutrition scores. CONCLUSION: Results showed significant effect on at least one of the following variables (socio-demographic, metabolic, or lifestyle subscale) on glycemic status in people with and without type 2 diabetes mellitus. The ability to adapt to changing demands was explained by metabolic variables but only in participants without type 2 diabetes mellitus. Preference for unhealthy behaviors (implicit or automatic responses) outweighs healthy lifestyle practices in people with and without type 2 diabetes mellitus.

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