Subject(s)
Illusions , Vitamin D Deficiency , Humans , Prevalence , Vitamin D , Vitamin D Deficiency/epidemiologyABSTRACT
No disponible
Subject(s)
Humans , Genetic Counseling , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Practice Guidelines as Topic/standards , Deglutition Disorders , Follow-Up Studies , Myotonic Dystrophy/complicationsABSTRACT
BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
Subject(s)
Genetic Counseling , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Practice Guidelines as Topic/standards , Deglutition Disorders , Follow-Up Studies , Humans , Myotonic Dystrophy/complicationsABSTRACT
Presentamos el caso de una mujer de 34 años diagnosticada de diabete smellitus tipo 1 en terapia intensiva desde los 15 años. La paciente fue incluida en un ensayo clínico con insulina glargina. A pesar de las recomendaciones, la paciente se quedó embarazada. Debido a la falta de seguridad de la insulina glargina en la gestación, se recomendó un cambio de pauta terapéutica manteniendo el análogo lispro preingestas y NPH en 3 dosis. La paciente decidió continuar con la insulina glargina por presentar un menor número de hipoglucemias nocturnas y una clara mejoría de su calidad de vida. Tanto el embarazo como el posparto cursaron con normalidad. Hasta ahora, la experiencia con insulina glargina durante la gestación es limitada. En nuestro caso, el tratamiento con insulina glargina en el período periconcepcional consiguió la optimización del control metabólico sin complicaciones maternas nifetales (AU)
We present the case of a 34-year-oldwoman diagnosed with type 1 diabetes mellitus who had been on intensive therapy since the age of 15 years. The patient was enrolled in a clinical trial using insulin glargine and, despite recommendations, became pregnant. Due to the lack of safety data on insulin glargine during pregnancy, we recommended that she change her evening glargine to insulin NPH distributed into three doses and continue with the pre-meal lispro analogue. Because the patient had experienced a lower frequency of nocturnal hypoglycemia and her quality of life had improved during the clinical trial, she decided to continue with the long-acting insulin at bedtime. The course of the pregnancy and postpartum were normal. To date the experience published on glargine in pregnancy is limited. In our case, treatment with insulin glargine in the periconceptional period achieved optimal metabolic control with no maternal or fetal complications (AU)
Subject(s)
Female , Pregnancy , Adult , Humans , Prenatal Care/methods , Pregnancy in Diabetics/drug therapy , Insulin/administration & dosage , Diabetes Mellitus, Type 1/drug therapy , Diabetes Mellitus, Type 1/complicationsABSTRACT
Little is known about the effects of thyroid hormone excess in male patients. Our aim was to evaluate bone mineral density (BMD), bone turnover markers, and thyroid function in male patients with treated thyroid cancer on long-term suppressive L-T4 therapy (TC) and in male patients with Graves' disease (GD). We studied 49 male patients (aged 45+/-12 years), 17 with TC (29-288 months on L-T4 suppressive therapy; free T4: 1.9+/-0.6 ng/dl [normal< or =2.0]; TSH: 0.2+/-0.3 microU/ml [Normal 0.5-5.0]) and 32 with recent onset GD (<12 weeks, free T4: 2.0+/-1.4 ng/dl; TSH: 1.07+/-1.8 microU/ml; TSHRAb 53+/-45% [normal < 15]). BMD was measured by dual X-ray absorptiometry (DXA, Hologic QDR1000w) at the lumbar spine (L2-L4, LS), femoral neck (FN), and Ward's triangle (WT). Results were expressed as Z-score (SD compared to national controls). Total alkaline phosphatase (ALP), osteocalcin (BGP), iPTH, serum phosphorus, serum, and 24 h urine calcium were measured as bone markers. Age, weight, and body mass index were comparable in both groups. Patients with TC and with GD showed reduced axial BMD (95% confidence interval: LS: TC (-1.27-0.01)(P = 0.046), GD (-1.06 to-0.38)(P < 0.001); FN: TC (-0.82 to-0.16)(P = 0.007), GD (-0.95 to-0.15)(P = 0.008); WT: TC (-0.82 to -0.18)(P = 0.004), GD (-0.97 to -0.08)(P = 0.024). No significant differences in BMD were found between the groups. Among bone markers, total ALP and osteocalcin levels showed higher levels in Graves' disease (ALP: 139+/-76 vs. 88+/-34, P < 0.01; BGP: 7.5+/-3.7 vs. 4.6+/-1.6; P < 0.001). Our data suggest a mild deleterious effect of thyroid hormone excess in the axial bone mass from male subjects. A skeletal status assessed by BMD in male patients with chronic TSH suppression by L-T4 or history of hyperthyroidism is recommended.
Subject(s)
Bone Density/drug effects , Graves Disease/physiopathology , Absorptiometry, Photon , Adult , Cross-Sectional Studies , Hormone Replacement Therapy , Humans , Male , Middle Aged , Thyroid Neoplasms/drug therapy , Thyroid Neoplasms/physiopathology , Thyroxine/therapeutic useABSTRACT
No disponible
Subject(s)
Humans , Bone and Bones/metabolism , Human Growth Hormone/therapeutic use , Acromegaly/complications , Bone Resorption/etiology , Osteoporosis/etiology , Human Growth Hormone/deficiencyABSTRACT
In order to determine the prevalence of microalbuminuria in people with Type 1 diabetes mellitus (Type 1 DM) and identify factors associated with microalbuminuria, we studied 312 Type 1 DM patients attending in three hospitals in two Spanish regions over 6 months. Clinical characteristics, micro- and macro-vascular complications, blood pressure, 24-h urine albumin excretion, lipid profile, HbA1(c) levels, smoking habits, and family history of hypertension and diabetic nephropathy were recorded. Univariate analysis and multiple logistic regression were used to examine associations between these variables and the prevalence of microalbuminuria. We detected microalbuminuria in 29% of the patients. The prevalence of microalbuminuria was high during the second decade of diabetes and declined thereafter. Univariate analysis showed dyslipidaemia (P<0. 002), previously diagnosed hypertension (P<0.001), family history of hypertension (sibling alone P<0.006; mother alone P<0.05), family history of diabetic nephropathy (P<0.001), and laser-treated retinopathy (P<0.03) to be factors associated with the presence of microalbuminuria. Multiple logistic regression revealed an association between microalbuminuria and family history of nephropathy (OR 7.6, 3.6-16). In conclusion, in our sample the frequency of microalbuminuria seems to be related to the presence of dyslipidaemia, hypertension, and to a family history of hypertension or nephropathy.
Subject(s)
Albuminuria/epidemiology , Diabetes Mellitus, Type 1/physiopathology , Diabetes Mellitus, Type 1/urine , Analysis of Variance , Blood Pressure , Cross-Sectional Studies , Diabetic Angiopathies/epidemiology , Diabetic Retinopathy/epidemiology , Female , Glycated Hemoglobin/analysis , Humans , Lipids/blood , Male , Prevalence , Regression Analysis , Smoking , Spain/epidemiologyABSTRACT
The role of nutritional factors in the pathogenesis of recidivating nephrolithiasis is reviewed. The ingestion of liquid calcium and citrates is inversely associated with the risk of developing stones, while the ingestion of proteins, sodium, uric, and oxalates have a direct relationship. One should not restrict the ingestion of calcium in the diet, but rather one should recommended a normal or high ingestion of some 850 mg/day, and rather, one should restrict the ingestion of proteins, oxalate, and sodium, as well as keeping up a diuresis greater than 1500 cc/day.