RESUMO
PURPOSE: Second-generation antipsychotic medications (SGAs) are widely used in child psychiatry. SGA-induced metabolic disturbances are common in children, but monitoring practices need systematisation. The study's aims were to test an SGA-monitoring protocol, examine the distributions of metabolic measurements compared to reference values in child psychiatry patients, and determine whether using a homeostasis model for the assessment of insulin resistance (HOMA-IR) and triglyceride/high-density lipoprotein (TG/HDL) ratio could improve the detection of increased cardiometabolic risk. MATERIALS AND METHODS: A systematic monitoring protocol was implemented. Weight and height, blood pressure, fasting glucose, insulin, HDL, and TG were measured at baseline and four times during follow-up. HOMA-IR, TG/HDL ratio and zBMI were calculated. Age-, gender- and BMI-specific percentile curves for HOMA-IR were used to define elevated cardiometabolic risk. RESULTS: The study patients (n = 55, mean age 9.9 years) were followed for a median of 9 months. A disadvantageous, statistically significant shift, often appearing within the reference range, was seen in zBMI, TG, HDL, glucose, insulin, HOMA-IR, and TG/HDL ratio. The increase in HOMA-IR appeared earlier than individual laboratory values and was more evident than the TG/HDL ratio increase. An HOMA-IR cut point of 1.98 resulted in a sensitivity and specificity of 83%. Compared to a previous study performed in the same location, the monitoring rates of metabolic parameters improved. CONCLUSION: The monitoring protocol implementation improved the monitoring of metabolic parameters in child psychiatric patients using SGAs. Using HOMA-IR as part of systematic SGA monitoring could help detect metabolic adverse effects.
Assuntos
Antipsicóticos , Doenças Cardiovasculares , Resistência à Insulina , Antipsicóticos/efeitos adversos , Biomarcadores , Glicemia/metabolismo , Índice de Massa Corporal , Doenças Cardiovasculares/induzido quimicamente , Doenças Cardiovasculares/diagnóstico , Criança , HDL-Colesterol , Estudos Transversais , Glucose , Humanos , Insulina , TriglicerídeosRESUMO
OBJECTIVE: The aim of this study was to explore the extended family history of type 1 diabetes in children at genetic risk and define the impact of a positive family history on the development of islet autoimmunity and type 1 diabetes. METHODS: The subjects were participants in The Finnish Type 1 Diabetes Prediction and Prevention (DIPP) study and carried increased HLA-conferred risk for type 1 diabetes. The case children (N = 343) were positive for at least one islet autoantibody, and the control children (N = 343) matched by age, gender and class II HLA genotype were negative for islet autoantibodies at the time of data collection. Extended family history of type 1 diabetes was obtained by using a structured questionnaire. RESULTS: Among children who were autoantibody positive and progressed to type 1 diabetes 62.2% (28/45) had at least one relative with type 1 diabetes. Interestingly, 57.8% of these children (26/45) had such a relative outside the nuclear family compared to 30.7% of children with no autoantibodies (P = .001), 35.2% of those with only classical islet cell antibodies (P = .006), and 35.2% of non-progressors with biochemical autoantibodies (P = 0.011). A positive history of type 1 diabetes in the paternal extended family was more common in children with multiple biochemical autoantibodies compared to those with only one biochemical autoantibody (P = .010). No association between the specificity of the first appearing autoantibody and family history of the disease was found. CONCLUSIONS: Type 1 diabetes in relatives outside the nuclear family is a significant risk factor for islet autoimmunity and progression to clinical disease in HLA susceptible children.
Assuntos
Autoanticorpos/imunologia , Autoimunidade , Diabetes Mellitus Tipo 1/imunologia , Família , Predisposição Genética para Doença , Ilhotas Pancreáticas/imunologia , Autoanticorpos/genética , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/genética , Progressão da Doença , Feminino , Finlândia/epidemiologia , Seguimentos , Humanos , Incidência , Masculino , Estudos ProspectivosRESUMO
AIM: This study examined the use and adverse reactions of second-generation antipsychotics (SGAs), alone or combined with other psychotropic medication, to identify areas for standardising prescribing and monitoring practices. METHODS: We conducted a retrospective study at Tampere University Hospital, Finland, involving 128 patients (81% boys) who were under 13 years old at SGA initiation and had SGA treatment between October 2013 and October 2014. RESULTS: The median age at baseline was 9.4 years. Weight gain was reported as an adverse reaction in 33%, but an increase in standardised body mass index, adjusted for age and sex (BMI z-score), was detected in 75% of patients with sufficient data. The statistically significant median changes during the study were an increase of 0.46 in BMI z-score, a reduction of 0.25 mmol/L in fasting plasma high-density lipoprotein and an increase of 0.28 mmol/L in triglyceride values. The weight gain was most apparent in patients treated with just an SGA or SGA plus melatonin. Patients treated with an SGA plus medication for attention deficit hyperactivity disorder were less likely to gain weight. CONCLUSION: SGA-induced metabolic disturbances remained partly unrecognised in children under 13 years of age and more systematic monitoring is needed.
Assuntos
Antipsicóticos , Adolescente , Antipsicóticos/efeitos adversos , Criança , Finlândia/epidemiologia , Seguimentos , Humanos , Masculino , Estudos Retrospectivos , Aumento de PesoRESUMO
BACKGROUND: Obesity in childhood appears often during the toddler years. The prenatal environment influences obesity risk. Maternal gestational diabetes, the child's diet, and physical activity in the first few years have an important role in subsequent weight gain. A study was conducted to evaluate effectiveness of a primary health-care lifestyle counselling intervention in prevention of childhood obesity up to 6 years of age. METHODS: The study was a controlled pragmatic trial to prevent childhood obesity and was implemented at maternity and child health-care clinics. The participants (n = 185) were mothers at risk of gestational diabetes mellitus with their offspring born between 2008 and 2010. The prenatal intervention, started at the end of the first trimester of pregnancy, consisted of counselling on diet and physical activity by municipal health-care staff. The intervention continued at yearly appointments with a public health-nurse at child health-care clinics. The paper reports the offspring weight gain results for 2-6 years of age. Weight gain up to 6 years of age was assessed as BMI standard deviation scores (SDS) via a mixed-effect linear regression model. The proportion of children at 6 years with overweight/obesity was assessed as weight-for-height percentage and ISO-BMI. Priority was not given to power calculations, because of the study's pragmatic nature. RESULTS: One hundred forty seven children's (control n = 76/85% and intervention n = 71/56%) weight and height scores were available for analysis at 6 years of age. There was no significant difference in weight gain or overweight/obesity proportions between the groups at 6 years of age, but the proportion of children with obesity in both groups was high (assessed as ISO-BMI 9.9% and 11.8%) relative to prevalence in this age group in Finland. CONCLUSION: As the authors previously reported, the intervention-group mothers had lower prevalence of gestational diabetes mellitus, but a decrease in obesity incidence before school age among their offspring was not found. The authors believe that an effective intervention should start before conception, continuing during pregnancy and the postpartum period through the developmentally unique child's first years. TRIAL REGISTRATION: ClinicalTrials.gov NCT00970710 . Registered 1 September 2009. Retrospectively registered.
Assuntos
Aconselhamento Diretivo/métodos , Promoção da Saúde/métodos , Serviços de Saúde Materno-Infantil , Obesidade Infantil/prevenção & controle , Atenção Primária à Saúde/métodos , Criança , Pré-Escolar , Diabetes Gestacional/prevenção & controle , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Obesidade Infantil/diagnóstico , Obesidade Infantil/etiologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/etiologia , Efeitos Tardios da Exposição Pré-Natal/prevenção & controle , Resultado do TratamentoRESUMO
AIM: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patients underwent strict dietary treatment. METHODS: From 1997 to 2010, 16 patients with LCHADD were diagnosed in Finland. They were followed up, and data were prospectively collected as they emerged. Clinical data before diagnosis were retrospectively collected from hospital records. This cohort was compared with an earlier cohort of patients diagnosed from 1976 to 1996. RESULTS: The disease presented from birth to five months of age with failure to thrive, hypotonia, hepatomegaly, metabolic acidosis, cardiomyopathy and hypoketotic hypoglycaemia. In this cohort, the therapeutic delay was 0-30 days and the survival rate at the end of the study was 62.5% compared with 10-year survival rate of 14.3% for the earlier cohort. The survivors were in good overall condition, but some of them had developed mild retinopathy or mild neuropathy. CONCLUSION: Earlier diagnosis and stricter dietary regimes improved the survival rates and clinical course of patients with LCHADD in Finland. However, improvements in therapy are still needed to prevent the development of long-term complications, such as retinopathy and neuropathy.
Assuntos
Cardiomiopatias/dietoterapia , Cardiomiopatias/diagnóstico , Erros Inatos do Metabolismo Lipídico/dietoterapia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Miopatias Mitocondriais/dietoterapia , Miopatias Mitocondriais/diagnóstico , Proteína Mitocondrial Trifuncional/deficiência , Doenças do Sistema Nervoso/dietoterapia , Doenças do Sistema Nervoso/diagnóstico , Rabdomiólise/dietoterapia , Rabdomiólise/diagnóstico , Cardiomiopatias/mortalidade , Criança , Pré-Escolar , Diagnóstico Precoce , Feminino , Finlândia , Seguimentos , Humanos , Lactente , Erros Inatos do Metabolismo Lipídico/mortalidade , Masculino , Miopatias Mitocondriais/mortalidade , Doenças do Sistema Nervoso/mortalidade , Estudos Prospectivos , Estudos Retrospectivos , Rabdomiólise/mortalidade , Taxa de Sobrevida , Resultado do TratamentoRESUMO
Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well. Type CDG Ia accounts for over 80% of cases, characterized by decreased activity of the enzyme phosphomannomutase caused by mutations in chromosome 16 PMM2 gene. Treatment of CDG Ia remains symptomatic.
Assuntos
Defeitos Congênitos da Glicosilação/diagnóstico , Fosfotransferases (Fosfomutases)/deficiência , Cromossomos Humanos Par 16 , Defeitos Congênitos da Glicosilação/genética , Defeitos Congênitos da Glicosilação/terapia , Humanos , Mutação , Fosfotransferases (Fosfomutases)/genéticaRESUMO
BACKGROUND: The 65-kD isoform of glutamic acid decarboxylase (GAD65) is a major autoantigen in type 1 diabetes. We hypothesized that alum-formulated GAD65 (GAD-alum) can preserve beta-cell function in patients with recent-onset type 1 diabetes. METHODS: We studied 334 patients, 10 to 20 years of age, with type 1 diabetes, fasting C-peptide levels of more than 0.3 ng per milliliter (0.1 nmol per liter), and detectable serum GAD65 autoantibodies. Within 3 months after diagnosis, patients were randomly assigned to receive one of three study treatments: four doses of GAD-alum, two doses of GAD-alum followed by two doses of placebo, or four doses of placebo. The primary outcome was the change in the stimulated serum C-peptide level (after a mixed-meal tolerance test) between the baseline visit and the 15-month visit. Secondary outcomes included the glycated hemoglobin level, mean daily insulin dose, rate of hypoglycemia, and fasting and maximum stimulated C-peptide levels. RESULTS: The stimulated C-peptide level declined to a similar degree in all study groups, and the primary outcome at 15 months did not differ significantly between the combined active-drug groups and the placebo group (P=0.10). The use of GAD-alum as compared with placebo did not affect the insulin dose, glycated hemoglobin level, or hypoglycemia rate. Adverse events were infrequent and mild in the three groups, with no significant differences. CONCLUSIONS: Treatment with GAD-alum did not significantly reduce the loss of stimulated C peptide or improve clinical outcomes over a 15-month period. (Funded by Diamyd Medical and the Swedish Child Diabetes Foundation; ClinicalTrials.gov number, NCT00723411.).
Assuntos
Peptídeo C/sangue , Diabetes Mellitus Tipo 1/tratamento farmacológico , Glutamato Descarboxilase/uso terapêutico , Adolescente , Autoanticorpos/sangue , Criança , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/imunologia , Feminino , Glutamato Descarboxilase/efeitos adversos , Glutamato Descarboxilase/imunologia , Humanos , Masculino , Isoformas de Proteínas , Adulto JovemRESUMO
Patients with type 1 diabetes have an average of two symptomatic hypoglycemias in a week and at least one severe hypoglycemia in a year. The most common causes of hypoglycemia are overcorrection of hyperglycemia, excessive basal insulin dose, and physical exercise. Fear of hypoglycemia is common and leads to poor control of diabetes. On the other hand, recurrent hypoglycemias are often caused by fear of complicating diseases and overcorrection with additional insulin of even a mild hyperglycemia. Active inquiry about hypoglycemias should be made during a medical consultation. Insulin pump therapy should be considered if recurrent symptomless hypoglycemias cannot be resolved some other way.
Assuntos
Diabetes Mellitus Tipo 1/sangue , Hipoglicemia/etiologia , Hipoglicemia/prevenção & controle , Hipoglicemia/psicologia , Medo/psicologia , Humanos , Hipoglicemiantes/administração & dosagem , Insulina/administração & dosagem , Sistemas de Infusão de InsulinaRESUMO
BACKGROUND: According to current evidence, the prevention of obesity should start early in life. Even the prenatal environment may expose a child to unhealthy weight gain; maternal gestational diabetes is known to be among the prenatal risk factors conducive to obesity. Here we report the effects of antenatal dietary and physical activity counselling on pregnancy and infant weight gain outcomes. METHODS: The study was a non-randomised controlled pragmatic trial aiming to prevent childhood obesity, the setting being municipal maternity health care clinics. The participants (n = 185) were mothers at risk of developing gestational diabetes mellitus and their offspring. The children of the intervention group mothers were born between 2009 and 2010, and children of the control group in 2008. The intervention started between 10-17 gestational weeks and consisted of individual counselling on diet and physical activity by a public health nurse, and two group counselling sessions by a dietician and a physiotherapist. The expectant mothers also received a written information leaflet to motivate them to breastfeed their offspring for at least 6 months. We report the proportion of mothers with pathological glucose tolerance at 26-28 weeks' gestation, the mother's gestational weight gain (GWG) and newborn anthropometry. Infant weight gain from 0 to 12 months of age was assessed as weight-for-length standard deviation scores (SDS) and mixed effect linear regression models. RESULTS: Intervention group mothers had fewer pathological oral glucose tolerance test results (14.6% vs. 29.2%; 95% CI 8.9 to 23.0% vs. 20.8 to 39.4%; p-value 0.016) suggesting that the intervention improved gestational glucose tolerance. Mother's GWG, newborn anthropometry or infant weight gain did not differ significantly between the groups. CONCLUSION: Since the intervention reduced the prevalence of gestational diabetes mellitus, it may have the potential to diminish obesity risk in offspring. However, results from earlier studies suggest that the possible effect on the offspring's weight gain may manifest only later in childhood. TRIAL REGISTRATION: Clinical Trials gov: NCT00970710.
Assuntos
Aconselhamento Diretivo , Intolerância à Glucose/prevenção & controle , Educação de Pacientes como Assunto/métodos , Obesidade Infantil/prevenção & controle , Complicações na Gravidez/prevenção & controle , Cuidado Pré-Natal/métodos , Adulto , Aleitamento Materno , Serviços de Saúde da Criança , Diabetes Gestacional/prevenção & controle , Dieta , Exercício Físico , Feminino , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Masculino , Gravidez , Fenômenos Fisiológicos da Nutrição Pré-Natal , Resultado do Tratamento , Aumento de PesoRESUMO
AIMS: Socioeconomic problems may present significant challenges when trying to reach optimal glycaemic control in paediatric patients with type 1 diabetes. We examined sociodemographic factors affecting metabolic control in patients in one of the biggest paediatric diabetes clinics in Finland. METHODS: One hundred ninety-one children (age 2-15 years; median 11 years; 47% female) with type 1 diabetes and their families were recruited during outpatient visits in the paediatric diabetes clinic of Tampere University Hospital, Finland. The participants completed a questionnaire on the family's sociodemographic background. The child's glycaemic control was assessed by both glycosylated haemoglobin (HbA1c) and time in range (TIR). Risk factors for poor (HbA1c ≥75 mmol/mol; TIR <40%) and optimal (HbA1c <53 mmol/mol; TIR ≥70%) metabolic control were searched using logistic regression analyses. RESULTS: Living in a nuclear family, male gender, younger age and a school assistant for diabetes management were associated with the simultaneous presence of both indicators of optimal metabolic control. Poor glycaemic control, as estimated by HbA1c, was associated with lower parental education and the child's older age. Parental smoking and the child's older age were associated with poor TIR. CONCLUSION: This study confirms the importance of sociodemographic factors in care of Finnish paediatric patients with type 1 diabetes. Sociodemographic status markers of the family could be used as triggers to alert paediatric diabetes teams to offer more tailored care to families with new-onset type 1 diabetes mellitus.
Assuntos
Diabetes Mellitus Tipo 1 , Humanos , Criança , Masculino , Feminino , Pré-Escolar , Adolescente , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/complicações , Hemoglobinas Glicadas , Finlândia , Glicemia/metabolismo , Controle Glicêmico , Fatores SociodemográficosRESUMO
AIM: The study aimed to assess the effects of diabetes-related risk factors, especially severe hypoglycaemia,on the academic skills of children with early-onset type 1 diabetes mellitus (T1DM). METHOD: The study comprised 63 children with T1DM (31 females, 32 males; mean age 9 y 11 mo,SD 4 mo) and 92 comparison children without diabetes (40 females, 52 males;mean age 9 y 9 mo,SD 3 mo). Children were included if T1DM had been diagnosed before the age of 5 years and if they were aged between 9 and 10 years at the time of study. Children were not included if their native language was not Finnish and if they had a diagnosed neurological disorder that affected their cognitive development. Among the T1DM group, 37 had and 26 had not experienced severe hypoglycaemia and 26 had avoided severe hypoglycaemia. Severe hypoglycaemia, diabetic ketoacidosis(DKA), and glycaemic control were used as T1DM-related factors. Task performance in reading, spelling, and mathematics was compared among the three groups, and the effects of the T1DM-related factors were analysed with general linear models. RESULTS: The groups with (p<0.001) and without (p=0.001) severe hypoglycaemia demonstrated a poorer performance than the comparison group in spelling, and the group without severe hypoglycaemia showed a poorer performance than the comparison group in mathematics (p=0.003).Severe hypoglycaemia, DKA, and recent glycaemic control were not associated with poorer skills,but poorer first-year glycaemic control was associated with poorer spelling (p=0.013). INTERPRETATION: An early onset of T1DM can increase the risk of learning problems, independently of the history of severe hypoglycaemia or DKA. Poorer glycaemic control after the first year of T1DM is associated with a poorer acquisition of academic skills indicating the effect of the timing of metabolic aberrations on cognitive development.
Assuntos
Logro , Diabetes Mellitus Tipo 1/diagnóstico , Deficiências da Aprendizagem/diagnóstico , Criança , Diabetes Mellitus Tipo 1/terapia , Cetoacidose Diabética/diagnóstico , Diagnóstico Precoce , Avaliação Educacional , Feminino , Finlândia , Hospitais , Humanos , Hipoglicemia/diagnóstico , Masculino , Matemática , Fatores de RiscoRESUMO
BACKGROUND: Fetal conditions are known to be partly responsible for the child's risk for obesity. Our pilot study aimed to determine the effect of gestational lifestyle counseling on the offspring weight gain until 4 years of age and to estimate power for future studies. DESIGN AND METHODS: First-time pregnant mothers participated in a controlled trial conducted in maternity health clinics during 2004 - 2006. The intervention included individual counseling on physical activity and diet, and an option to attend supervised group exercise sessions. The participant mothers (N = 109) received a follow-up questionnaire concerning 13 repeated growth measurements of their offspring. Response rate to the follow-up questionnaire was 66.1% (N = 72/109). RESULTS: The increase of BMI z-score between 24-48 months was not significantly slower among the intervention group offspring (95% CI -0.025 to 0.009, p = 0.34) compared to control group. Z-scores for weight-for-length/height did not differ between groups when the period 0-48 months was analyzed (95% CI -0.010 to 0.014, p = 0.75). CONCLUSIONS: In this pilot study gestational lifestyle counseling did not significantly slow the weight gain of the offspring. Gestational intervention studies with at least 300 mothers per group are needed to confirm the possible effect on offspring's risk for obesity. TRIAL REGISTRATION: Current Controlled Trials ISRCTN21512277.
Assuntos
Estilo de Vida , Cuidado Pré-Natal/métodos , Adulto , Índice de Massa Corporal , Peso Corporal , Pré-Escolar , Aconselhamento , Dieta , Exercício Físico , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Obesidade/prevenção & controle , Projetos Piloto , Gravidez , Inquéritos e Questionários , Aumento de PesoRESUMO
BACKGROUND: Prevention is considered effective in combating the obesity epidemic. Prenatal environment may increase offspring's risk for obesity. A child starts to adopt food preferences and other behavioral habits affecting weight gain during preschool years. We report the study protocol of a pragmatic lifestyle intervention aiming at primary prevention of childhood obesity. METHODS/DESIGN: A non-randomized controlled pragmatic trial in maternity and child health care clinics. The control group was recruited among families who visited the same clinics one year earlier. Eligibility criteria was mother at risk for gestational diabetes: body mass index ≥ 25 kg/m2, macrosomic newborn in any previous pregnancy, immediate family history of diabetes and/or age ≥ 40 years. All maternity clinics in town involved in recruitment. The gestational intervention consisted of individual counseling on diet and physical activity by a public health nurse, and of two group counseling sessions. Intervention continues until offspring's age of five years. An option to participate a group counseling at child's age 1 to 2 years was offered. The intervention includes advice on healthy diet, physical activity, sedentary behavior and sleeping pattern. The main outcome measure is offspring BMI z-score and its changes by the age of six years. DISCUSSION: Early childhood is a critical time period for prevention of obesity. Pragmatic trials targeting this period are necessary in order to find effective obesity prevention programs feasible in normal health care practice.
Assuntos
Comportamento Infantil , Aconselhamento Diretivo , Estilo de Vida , Obesidade/prevenção & controle , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Centros de Saúde Materno-Infantil , Gravidez , Cuidado Pré-NatalRESUMO
AIMS: To compare insulin dose adjustments made by physicians to those made by an artificial intelligence-based decision support system, the Advisor Pro, in people with type 1 diabetes (T1D) using an insulin pump and self-monitoring blood glucose (SMBG). METHODS: This was a multinational, non-interventional study surveying 17 physicians from 11 countries. Each physician was asked to provide insulin dose adjustments for the settings of the pump including basal rate, carbohydrate-to-insulin ratios (CRs), and correction factors (CFs) for 15 data sets of pumps and SMBG of people with T1D (mean age 18.4 ± 4.8 years; eight females; mean glycated hemoglobin 8.2% ± 1.4% [66 ± 11mmol/mol]). The recommendations were compared among the physicians and between the physicians and the Advisor Pro. The study endpoint was the percentage of comparison points for which there was an agreement on the direction of insulin dose adjustments. RESULTS: The percentage (mean ± SD) of agreement among the physicians on the direction of insulin pump dose adjustments was 51.8% ± 9.2%, 54.2% ± 6.4%, and 49.8% ± 11.6% for the basal, CR, and CF, respectively. The automated recommendations of the Advisor Pro on the direction of insulin dose adjustments were comparable )49.5% ± 6.4%, 55.3% ± 8.7%, and 47.6% ± 14.4% for the basal rate, CR, and CF, respectively( and noninferior to those provided by physicians. The mean absolute difference in magnitude of change between physicians was 17.1% ± 13.1%, 14.6% ± 8.4%, and 23.9% ± 18.6% for the basal, CR, and CF, respectively, and comparable to the Advisor Pro 11.7% ± 9.7%, 10.1% ± 4.5%, and 25.5% ± 19.5%, respectively, significant for basal and CR. CONCLUSIONS: Considerable differences in the recommendations for changes in insulin dosing were observed among physicians. Since automated recommendations by the Advisor Pro were similar to those given by physicians, it could be considered a useful tool to manage T1D.
Assuntos
Diabetes Mellitus Tipo 1 , Médicos , Adolescente , Adulto , Inteligência Artificial , Glicemia , Automonitorização da Glicemia , Diabetes Mellitus Tipo 1/tratamento farmacológico , Feminino , Hemoglobinas Glicadas/análise , Humanos , Hipoglicemiantes , Insulina , Sistemas de Infusão de Insulina , Masculino , Adulto JovemRESUMO
Deficiencies of urea cycle enzymes are rare metabolic disorders. Inadequate function of these enzymes may in worst cases lead to hyperammonemic encephalopathy and death. The danger of urea cycle enzyme deficiencies is that previously healthy adults with no prior medical history suggesting these deficiencies may suddenly develop life-threatening complications during prolonged catabolic situations such as delivery or surgery. Since most of the metabolic disorders are diagnosed during childhood, it may sometimes be difficult to bear in mind these rare diseases as a cause of unconsciousness in adulthood. However, early diagnosis and prompt initiation of ammonia-lowering treatment are essential for survival of these patients. We present two pregnant women with urea cycle disorders: one with a known deficiency and an uncomplicated outcome, and another with a previously undiagnosed disorder and life-threatening course of the postpartum period.
Assuntos
Coma/diagnóstico , Hiperamonemia/diagnóstico , Doença da Deficiência de Ornitina Carbomoiltransferase/complicações , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Período Pós-Parto/metabolismo , Adulto , Coma/enzimologia , Feminino , Humanos , Hiperamonemia/enzimologia , Recém-Nascido , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/enzimologia , Resultado da Gravidez , Adulto JovemRESUMO
Insulin-induced lipoatrophy is a rare but serious complication of insulin treatment. Its incidence decreased during 1970' and 1980's, but several reports of this phenomenon have again recently been published. Traditional treatment options have included injecting insulin or pump cannula to the area surrounding the lipoatrophy or changing the insulin type or preparation. In this report we present 4 children who developed severe lipoatrophy during insulin pump treatment. Changing injection sites did not help but lipoatrophy disappeared in one patient after changing the insulin preparation. In the three other patients no new atrophy sites have appeared after change in insulin preparation or simultaneous treatment with local pimecrolimus or sodium cromoglicate.
Assuntos
Diabetes Mellitus Lipoatrófica/etiologia , Hipoglicemiantes/efeitos adversos , Sistemas de Infusão de Insulina/efeitos adversos , Insulina/efeitos adversos , Adolescente , Anti-Inflamatórios/uso terapêutico , Criança , Cromolina Sódica/uso terapêutico , Diabetes Mellitus Lipoatrófica/tratamento farmacológico , Quimioterapia Combinada , Humanos , Hipoglicemiantes/administração & dosagem , Insulina/administração & dosagem , Tacrolimo/análogos & derivados , Tacrolimo/uso terapêuticoRESUMO
OBJECTIVE: To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein intolerance (LPI) and to describe the course and outcome of end-stage renal disease in 4 patients. STUDY DESIGN: The clinical information in a cohort of 39 Finnish patients with LPI was analyzed retrospectively. RESULTS: Proteinuria was observed in 74% of the patients and hematuria was observed in 38% of the patients during follow-up. Elevated blood pressure was diagnosed in 36% of the patients. Mean serum creatinine concentration increased in 38% of the patients, and cystatin C concentration increased in 59% of the patients. Four patients required dialysis, and severe anemia with poor response to erythropoietin and iron supplementation also developed in these patients. CONCLUSIONS: Our findings suggest that renal function of patients with LPI needs to be carefully monitored, and hypertension and hyperlipidemia should be treated effectively. Special attention also should be paid to the prevention of osteoporosis and carnitine deficiency in the patients with end-stage renal disease associated with LPI. The primary disease does not prohibit treatment by dialysis and renal transplantation.
Assuntos
Transtornos Congênitos do Transporte de Aminoácidos/complicações , Nefropatias/etiologia , Falência Renal Crônica/etiologia , Lisina/urina , Adolescente , Adulto , Criança , Pré-Escolar , Citrulina/sangue , Creatinina/sangue , Cistatina C , Cistatinas/sangue , Progressão da Doença , Feminino , Taxa de Filtração Glomerular , Humanos , Lactente , Nefropatias/sangue , Nefropatias/patologia , Falência Renal Crônica/cirurgia , Transplante de Rim , Masculino , Pessoa de Meia-Idade , Proteinúria/etiologiaRESUMO
OBJECTIVE: To assess the anxiety, emotions, thoughts, and coping behaviors of parents 1 week after they receive the results of screening of their infant's genetic risk of type 1 diabetes mellitus. DESIGN: Survey. SETTING: The population-based Type 1 Diabetes Prediction and Prevention project conducted in Turku. PARTICIPANTS: Parents of 443 consecutive high-risk infants and 506 next-born low-risk infants. INTERVENTIONS: An infant's genetic risk of type 1 diabetes mellitus was measured from cord blood. High-risk information was delivered by telephone and low-risk information by mail 4 weeks later. MAIN OUTCOME MEASURES: Anxiety measured using the state anxiety scale of the State-Trait Anxiety Inventory, and feelings, thoughts, and coping behaviors extracted from the questionnaire. RESULTS: One week after obtaining the results, 67% of mothers and 63% of fathers of high-risk children and 58% of mothers and 54% of fathers of low-risk children had returned the questionnaire. Anxiety levels of parents of high-risk infants were similar to those of parents of low-risk infants (P = .86). More than 90% of the parents thought that it was good to know about the risk. Fifty-five percent of mothers and 37% of fathers of high-risk infants expressed modest worry. Increased anxiety was connected with other stressful life events, catastrophizing thoughts of diabetes mellitus risk, and emotion-focused or avoiding coping attitudes. CONCLUSIONS: Learning about their infant's genetic diabetes mellitus risk induces only mild anxiety in most parents. Identifying the few parents with stronger anxiety helps focus intensified counseling.
Assuntos
Adaptação Psicológica , Ansiedade/diagnóstico , Diabetes Mellitus Tipo 1/genética , Pais/psicologia , Adulto , Feminino , Testes Genéticos , Humanos , Recém-Nascido , Masculino , Risco , Inquéritos e QuestionáriosAssuntos
Hipersecreção Hipofisária de ACTH/diagnóstico , Hipófise/patologia , Adolescente , Terapia de Reposição Hormonal , Humanos , Hidrocortisona/sangue , Hiperplasia , Hipofisectomia , Imageamento por Ressonância Magnética , Masculino , Hipersecreção Hipofisária de ACTH/sangue , Hipersecreção Hipofisária de ACTH/etiologia , Hipófise/cirurgia , Resultado do TratamentoRESUMO
CONTEXT: Major advances have been made in the classification and genetics of monogenic diabetes in infancy. OBJECTIVE: The objective of the study was to characterize different forms of diabetes diagnosed during the first year of life. DESIGN: Patients diagnosed with diabetes before the age of 1 year in 10 Finnish hospitals from 1980 to 2014 were included. SETTING: The study was conducted at Kuopio University Hospital and University of Eastern Finland. PATIENTS: Patients were identified through diagnosis-based searches from hospital registries including 93 children, of whom 64 participated. INTERVENTIONS: DNA sample for sequencing, serum sample, and medical records interventions were included. MAIN OUTCOME MEASURES: Incidence of diabetes during the first year of life, sequencing results, human leukocyte antigen (HLA) genotypes, and islet autoantibodies were measured. RESULTS: The incidence of diabetes diagnosed during the first 12 months was 4.4/100 000/year. Three novel and 11 previously described mutations were found in 22 patients from 15 families in the KCNJ11, ABCC8, INS, GCK, FOXP, STAT3, and RFX6 genes. Positive islet autoantibodies were observed in 40.0% of the patients diagnosed during the first 0-6 months of life vs 70.8% of the patients diagnosed between ages of 7 to 12 months. A total of 85.7% of the patients carrying protective HLA genotypes were mutation-positive compared to 7.7% of the patients having high-risk genotypes (P = .001). CONCLUSIONS: Mutations in the K-ATP channel and INS genes were the most common cause of early diagnosed monogenic diabetes. After 6 months of age, patients with diabetes had high HLA risk genotypes and islet autoantibodies, reflecting the autoimmune character of diabetes in that age group.