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1.
Diabet Med ; 40(7): e15114, 2023 07.
Article in English | MEDLINE | ID: mdl-37052607

ABSTRACT

AIMS: Study aims: (1) developing and validating a novel questionnaire for measuring fear of hyperglycaemia among parents of children with type 1 diabetes (T1D) - the Hyperglycaemia Fear Survey - Parent version (FoHyper-P); (2) investigating correlations between parental fear of hyperglycaemia and objective measures of glycaemic control. METHODS: A multi-centre, multinational study of 152 parents of children with T1D was conducted in three large diabetes clinics from Israel, Poland, and Greece. Inclusion criteria were parents of children aged 6-16 years, at least 6 months from diagnosis, at least 3 months of CGM use and parental involvement in care. Parents filled the FoHyper-P and the Hypoglycaemia Fear Survey - Parent Version (HFS-P). Patient data were obtained via electronic medical records and informative questionnaires. Bonferroni correction was performed to counteract multiple comparisons. RESULTS: Significant strong-moderate correlations were found between FoHyper-P and HFS-P including total questionnaires scoring (r = 0.747, pBonf < 0.001), worries subscales (r = 0.735, pBonf <0.001), and behaviour subscales (r = 0.532, pBonf <0.001). Using linear regression models, we found a positive association between the worry subscale and HbA1C. Weak correlations (p < 0.05, not significant after Bonferroni correction) were found between time in range, time above range and parental fear of hyperglycaemia as well as between worry subscales and a higher HbA1C in the past year, percent of hyperglycaemia and lower TIR. CONCLUSIONS: The FoHyper-P is a novel, validated tool for assessing parental fear of hyperglycaemia. Integrating it into clinical practice addresses an underestimated aspect of parental diabetes management, enabling better care for children with T1D.


Subject(s)
Diabetes Mellitus, Type 1 , Hyperglycemia , Hypoglycemia , Child , Humans , Hyperglycemia/prevention & control , Glycated Hemoglobin , Fear , Hypoglycemia/prevention & control , Parents
2.
Eur J Pediatr ; 182(11): 5191-5202, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37707589

ABSTRACT

To assess the long-term efficacy of burosumab for pediatric patients with X-linked hypophosphatemia, focusing on linear growth. This multi-center retrospective study included 35 pediatric patients who began treatment with burosumab between January 2018 and January 2021. We collected clinical data, anthropometric measurements, laboratory results, and Rickets Severity Score (RSS), from 2 years prior to treatment initiation and up to 4 years after. Burosumab was initiated at a mean age of 7.5 ± 4.4 years (range 0.6-15.9), with a mean initial dose of 0.8 ± 0.3 mg/kg, which was subsequently increased to 1.1 ± 0.4 mg/kg. The patients were followed for 2.9 ± 1.4 years (range 1-4) after initiating burosumab. Serum phosphorus levels increased from 2.7 ± 0.8 mg/dl at burosumab initiation to 3.4 ± 0.6 mg/dl after 3 months and remained stable (p < 0.001). Total reabsorption of phosphorus increased from 82.0 ± 6.8 to 90.1 ± 5.3% after 12 months of treatment (p = 0.041). The RSS improved from 1.7 ± 1.0 at burosumab initiation to 0.5 ± 0.6 and 0.3 ± 0.6 after 12 and 24 months, respectively (p < 0.001). Both height z-score and weight z-score improved from burosumab initiation to the end of the study: from - 2.07 ± 1.05 to - 1.72 ± 1.04 (p < 0.001) and from - 0.51 ± 1.12 to - 0.11 ± 1.29 (p < 0.001), respectively. Eight children received growth hormone combined with burosumab treatment. Height z-score improved among those who received growth hormone (from - 2.33 ± 1.12 to - 1.94 ± 1.24, p = 0.042) and among those who did not (from - 2.01 ± 1.01 to - 1.66 ± 1.01, p = 0.001). CONCLUSION:  Burosumab treatment in a real-life setting improved phosphate homeostasis and rickets severity and enhanced linear growth. WHAT IS KNOWN: • Compared to conventional therapy, burosumab treatment has been shown to increase serum phosphate levels and reduce the severity of rickets. • The effect of burosumab on growth is still being study. WHAT IS NEW: • Height z-score improved between the start of burosumab treatment and the end of the study (-2.07 ± 1.05 vs. -1.72 ± 1.04, p < 0.001). • Eight children received burosumab combined with growth hormone treatment without side effects during the concomitant treatments.


Subject(s)
Familial Hypophosphatemic Rickets , Child , Humans , Infant , Child, Preschool , Adolescent , Familial Hypophosphatemic Rickets/drug therapy , Antibodies, Monoclonal/therapeutic use , Retrospective Studies , Phosphorus/therapeutic use , Growth Hormone/therapeutic use , Phosphates
3.
Lancet ; 397(10270): 208-219, 2021 01 16.
Article in English | MEDLINE | ID: mdl-33453783

ABSTRACT

BACKGROUND: Management of type 1 diabetes is challenging. We compared outcomes using a commercially available hybrid closed-loop system versus a new investigational system with features potentially useful for adolescents and young adults with type 1 diabetes. METHODS: In this multinational, randomised, crossover trial (Fuzzy Logic Automated Insulin Regulation [FLAIR]), individuals aged 14-29 years old, with a clinical diagnosis of type 1 diabetes with a duration of at least 1 year, using either an insulin pump or multiple daily insulin injections, and glycated haemoglobin (HbA1c) levels of 7·0-11·0% (53-97 mmol/mol) were recruited from seven academic-based endocrinology practices, four in the USA, and one each in Germany, Israel, and Slovenia. After a run-in period to teach participants how to use the study pump and continuous glucose monitor, participants were randomly assigned (1:1) using a computer-generated sequence, with a permuted block design (block sizes of two and four), stratified by baseline HbA1c and use of a personal MiniMed 670G system (Medtronic) at enrolment, to either use of a MiniMed 670G hybrid closed-loop system (670G) or the investigational advanced hybrid closed-loop system (Medtronic) for the first 12-week period, and then participants were crossed over with no washout period, to the other group for use for another 12 weeks. Masking was not possible due to the nature of the systems used. The coprimary outcomes, measured with continuous glucose monitoring, were proportion of time that glucose levels were above 180 mg/dL (>10·0 mmol/L) during 0600 h to 2359 h (ie, daytime), tested for superiority, and proportion of time that glucose levels were below 54 mg/dL (<3·0 mmol/L) calculated over a full 24-h period, tested for non-inferiority (non-inferiority margin 2%). Analysis was by intention to treat. Safety was assessed in all participants randomly assigned to treatment. This trial is registered with ClinicalTrials.gov, NCT03040414, and is now complete. FINDINGS: Between June 3 and Aug 22, 2019, 113 individuals were enrolled into the trial. Mean age was 19 years (SD 4) and 70 (62%) of 113 participants were female. Mean proportion of time with daytime glucose levels above 180 mg/dL (>10·0 mmol/L) was 42% (SD 13) at baseline, 37% (9) during use of the 670G system, and 34% (9) during use of the advanced hybrid closed-loop system (mean difference [advanced hybrid closed-loop system minus 670G system] -3·00% [95% CI -3·97 to -2·04]; p<0·0001). Mean 24-h proportion of time with glucose levels below 54 mg/dL (<3·0 mmol/L) was 0·46% (SD 0·42) at baseline, 0·50% (0·35) during use of the 670G system, and 0·46% (0·33) during use of the advanced hybrid closed-loop system (mean difference [advanced hybrid closed-loop system minus 670G system] -0·06% [95% CI -0·11 to -0·02]; p<0·0001 for non-inferiority). One severe hypoglycaemic event occurred in the advanced hybrid closed-loop system group, determined to be unrelated to study treatment, and none occurred in the 670G group. INTERPRETATION: Hyperglycaemia was reduced without increasing hypoglycaemia in adolescents and young adults with type 1 diabetes using the investigational advanced hybrid closed-loop system compared with the commercially available MiniMed 670G system. Testing an advanced hybrid closed-loop system in populations that are underserved due to socioeconomic factors and testing during pregnancy and in individuals with impaired awareness of hypoglycaemia would advance the effective use of this technology FUNDING: National Institute of Diabetes and Digestive and Kidney Diseases.


Subject(s)
Blood Glucose Self-Monitoring/instrumentation , Diabetes Mellitus, Type 1/drug therapy , Insulin Infusion Systems , Insulin/therapeutic use , Adult , Female , Germany , Humans , Hyperglycemia/prevention & control , Israel , Male , United States , Young Adult
4.
Diabetes Obes Metab ; 20(10): 2458-2466, 2018 10.
Article in English | MEDLINE | ID: mdl-29885025

ABSTRACT

AIMS: To evaluate physicians' adjustments of insulin pump settings based on continuous glucose monitoring (CGM) for patients with type 1 diabetes and to compare these to automated insulin dose adjustments. METHODS: A total of 26 physicians from 16 centres in Europe, Israel and South America participated in the study. All were asked to adjust insulin dosing based on insulin pump, CGM and glucometer downloads of 15 patients (mean age 16.2 ± 4.3 years, six female, mean glycated haemoglobin 8.3 ± 0.9% [66.8 ± 7.3 mmol/mol]) gathered over a 3-week period. Recommendations were compared for the relative changes in the basal, carbohydrate to insulin ratio (CR) and correction factor (CF) plans among physicians and among centres and also between the physicians and an automated algorithm, the Advisor Pro (DreaMed Diabetes Ltd, Petah Tikva, Israel). Study endpoints were the percentage of comparison points for which there was full agreement on the trend of insulin dose adjustments (same trend), partial agreement (increase/decrease vs no change) and full disagreement (opposite trend). RESULTS: The percentages for full agreement between physicians on the trend of insulin adjustments of the basal, CR and CF plans were 41 ± 9%, 45 ± 11% and 45.5 ± 13%, and for complete disagreement they were 12 ± 7%, 9.5 ± 7% and 10 ± 8%, respectively. Significantly similar results were found between the physicians and the automated algorithm. The algorithm magnitude of insulin dose change was at least equal to or less than that proposed by the physicians. CONCLUSIONS: Physicians provide different insulin dose recommendations based on the same datasets. The automated advice of the Advisor Pro did not differ significantly from the advice given by the physicians in the direction or magnitude of the insulin dosing.


Subject(s)
Diabetes Mellitus, Type 1/blood , Diabetes Mellitus, Type 1/drug therapy , Insulin Infusion Systems , Insulin/administration & dosage , Practice Patterns, Physicians'/statistics & numerical data , Adolescent , Adult , Blood Glucose/drug effects , Blood Glucose/metabolism , Blood Glucose Self-Monitoring/methods , Blood Glucose Self-Monitoring/standards , Calibration , Child , Diabetes Mellitus, Type 1/epidemiology , Dose-Response Relationship, Drug , Europe/epidemiology , Female , Geography , Humans , Insulin Infusion Systems/standards , Israel/epidemiology , Longitudinal Studies , Male , South America/epidemiology , Young Adult
5.
Acta Paediatr ; 106(1): 155-160, 2017 Jan.
Article in English | MEDLINE | ID: mdl-27743484

ABSTRACT

AIM: This study explored whether using the suggested diagnostic serum basal level of 17-hydroxyprogesterone (6.0 nmol/L) would lead to underdiagnosis of nonclassical congenital adrenal hyperplasia. METHODS: We retrospectively studied 123 patients with nonclassical congenital adrenal hyperplasia, defined as an adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone level of more than 45 nmol/L. Of these 13 had basal 17-hydroxyprogesterone levels of less than 6.0 nmol/L and 110 exceeded that level. The 42 controls had idiopathic premature pubarche. Clinical and laboratory data were reviewed and compared. RESULTS: There were no differences between patients with 17-hydroxyprogesterone levels of <6.0 nmol/L or ≥6.0 nmol/L based on age at presentation, gender, anthropometric measurements, bone age advancement, age at glucocorticoid initiation and hydrocortisone dosage. Patients with basal 17-hydroxyprogesterone <6.0 nmol/L had significantly lower stimulated 17-hydroxyprogesterone levels (p = 0.02) and higher stimulated serum cortisol levels (p < 0.008). Children with nonclassical congenital adrenal hyperplasia and premature pubarche were clinically indistinguishable from controls with idiopathic premature pubarche. Androgen levels were significantly higher in the nonclassical congenital adrenal hyperplasia group. CONCLUSION: A basal 17-hydroxyprogesterone threshold of 6.0 nmol/L was not a sensitive predictive marker for diagnosing nonclassical congenital adrenal hyperplasia. Children whose clinical presentation suggests nonclassical congenital adrenal hyperplasia should undergo diagnostic adrenocorticotropic hormone stimulation testing.


Subject(s)
17-alpha-Hydroxyprogesterone/blood , Adrenal Hyperplasia, Congenital/diagnosis , Adolescent , Adrenal Hyperplasia, Congenital/blood , Biomarkers/blood , Case-Control Studies , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Male , Retrospective Studies , Sensitivity and Specificity
6.
Horm Res Paediatr ; 96(5): 465-472, 2023.
Article in English | MEDLINE | ID: mdl-36806217

ABSTRACT

INTRODUCTION: Data on adult height (AHt) in individuals with non-classical congenital adrenal hyperplasia (NCCAH) are inconsistent. METHODS: We conducted a retrospective study of 109 females diagnosed with NCCAH at age <18 years who reached AHt. We studied AHt compared to target height (THt) and the correlation of AHt with clinical parameters. RESULTS: The mean age at diagnosis was 9.7 ± 4.4 years; the mean follow-up was 10.9 ± 6.3 years. Hydrocortisone treatment (11.0 ± 5.0 mg/m2) was initiated at age 9.7 ± 4.0 years. Bone age was more advanced in girls who presented with central precocious puberty or early puberty (CPP/EP) (n = 43) than with timely puberty. AHt-standard deviation score (SDS) was lower than Ht-SDS at diagnosis (-0.8 ± 1.0 vs. +0.2 ± 1.3; p < 0.001) and -0.3 SDS shorter than THt (p < 0.001). Height, weight, and body mass index-SDS at last visits were similar between patients treated with glucocorticoids (n = 92) and those never treated (n = 17). AHt was comparable between patients with timely puberty and with CPP/EP, with no difference between those treated or not by GnRH analogue. AHt was similar between patients who were fully pubertal (Tanner 5), pre-pubertal (Tanner 1), and pubertal (Tanner 2-4) at diagnosis (158.0 ± 7.6, 158.1 ± 6.1, and 157.5 ± 6.5, respectively; p = 0.9). AHt-SDS was correlated with THt (R = 0.67, p < 0.001) and Ht-SDS at diagnosis (R = 0.7, p < 0.001) but not with age at diagnosis (R = -0.05, p = 0.6), the extent of bone age advancement (R = -0.04, p = 0.72), glucocorticoid treatment duration (R = -0.11, p = 0.34), or dose (R = -0.04, p = 0.70). CONCLUSION: AHt of females diagnosed with NCCAH in childhood was lower than their THt. Glucocorticoid treatment duration and dose, pubertal status at diagnosis, and having CPP or EP were not correlated with AHt.


Subject(s)
Adrenal Hyperplasia, Congenital , Puberty, Precocious , Humans , Female , Adult , Child, Preschool , Child , Adolescent , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/drug therapy , Retrospective Studies , Glucocorticoids/therapeutic use , Puberty, Precocious/diagnosis , Puberty, Precocious/drug therapy , Body Height
7.
J Clin Endocrinol Metab ; 107(8): e3264-e3272, 2022 07 14.
Article in English | MEDLINE | ID: mdl-35524727

ABSTRACT

CONTEXT: Data is needed regarding the effect of SARS-CoV-19 infection on young people with established type 1 diabetes. Identifying the disease outcomes, short and long-term sequelae may help to establish an evidence-based prevention and education policy for sick days management and DKA prevention. OBJECTIVE: This work aims to describe clinical manifestations of SARS-CoV-2 infection in children, adolescents, and young adults with established type 1 diabetes (T1D) and explore the effects of COVID-19 on glycemic control and disease course. METHODS: An observational study was conducted at 3 pediatric diabetes clinics in Israel between mid-March 2020 and mid-March 2021. Included were young people with established T1D, age younger than 30 years, who tested positive for SARS-CoV-2 (quantitative real-time polymerase chain reaction). Data were collected from medical files, diabetes devices, and COVID-19 questionnaire. Outcome measures were analyzed by the presence/absence of clinical symptoms (symptomatic/asymptomatic) and by age group (pediatric, < 19 years/young adults, 19-30 years). RESULTS: Of 132 patients, mean age 16.9 ±â€…5.3years, with COVID-19-confirmed infection, 103 (78%) had related symptoms; the most common were headaches, fatigue, fever, and loss of sense of smell. All had a mild disease course, but 4 required hospitalization and 2 cases were directly related to COVID-19 infection (pleuropneumonia in a patient with immunodeficiency syndrome, 1 case of diabetic ketoacidosis). Logistic regression analysis showed that age (odds ratio [OR] = 1.11; 95% CI, 1.01-1.23; P = .033), elevated glucose levels (OR = 5.23; 95% CI, 1.12-24.41; P = .035), and comorbidities (OR = 8.21; 95% CI, 1.00-67.51; P = .050) were positively associated with symptomatic infection. Persistent symptoms occurred in 16.5% of the cohort over a median of 6.7 months; age (OR = 1.14; 95% CI, 1.01-1.29; P = .030) and elevated glucose levels (OR = 3.42; 95% CI, 1.12-10.40; P = .031) were positively associated with persistent symptoms. Usually, no change was reported in glucose levels (64%) except for a temporary deterioration in glycemic control during the short infection period. CONCLUSION: Young people with established T1D experience mild COVID-19 infection. Elevated glucose levels during COVID-19 infection and older age were associated with prolonged disease course.


Subject(s)
COVID-19 , Diabetes Mellitus, Type 1 , Diabetic Ketoacidosis , Adolescent , Adult , COVID-19/complications , COVID-19/epidemiology , Child , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/epidemiology , Diabetic Ketoacidosis/epidemiology , Diabetic Ketoacidosis/etiology , Glucose , Glycemic Control , Humans , SARS-CoV-2 , Young Adult
8.
World J Diabetes ; 12(1): 56-68, 2021 Jan 15.
Article in English | MEDLINE | ID: mdl-33520108

ABSTRACT

BACKGROUND: Type 1 diabetes (T1D) contributes to altered lipid profiles and increases the risk of cardiovascular disease (CVD). Youth with T1D may have additional CVD risk factors within the first decade of diagnosis. AIM: To examine risk factors for dyslipidemia in young subjects with T1D. METHODS: Longitudinal and cross-sectional retrospective study of 170 young subjects with T1D (86 males; baseline mean age 12.2 ± 5.6 years and hemoglobin A1c 8.4% ± 1.4%) were followed in a single tertiary diabetes center for a median duration of 15 years. Predictors for outcomes of lipid profiles at last visit (total cholesterol [TC], triglycerides [TGs], low-density lipoprotein-cholesterol [LDL-c], and high-density lipoprotein-cholesterol [HDL-c]) were analyzed by stepwise linear regression models. RESULTS: At baseline, 79.5% of the patients had at least one additional CVD risk factor (borderline dyslipidemia/dyslipidemia [37.5%], pre-hypertension/hypertension [27.6%], and overweight/obesity [16.5%]) and 41.6% had multiple (≥ 2) CVD risk factors. A positive family history of at least one CVD risk factor in a first-degree relative was reported in 54.1% of the cohort. Predictors of elevated TC: family history of CVD (ß[SE] = 23.1[8.3], P = 0.006); of elevated LDL-c: baseline diastolic blood pressure (DBP) (ß[SE] = 11.4[4.7], P = 0.003) and family history of CVD (ß[SE] = 20.7[6.8], P = 0.017); of elevated TGs: baseline DBP (ß[SE] = 23.8[9.1], P = 0.010) and family history of CVD (ß[SE] = 31.0[13.1], P = 0.020); and of low HDL-c levels: baseline DBP (ß[SE] = 4.8[2.1], P = 0.022]). CONCLUSION: Our findings suggest that elevated lipid profiles are associated with DBP and a positive family history of CVD. It is of utmost importance to prevent and control modifiable risk factors such as these, as early as childhood, given that inadequate glycemic control and elevation in blood pressure intensify the risk of dyslipidemia.

9.
Diabetes Technol Ther ; 23(12): 857-861, 2021 12.
Article in English | MEDLINE | ID: mdl-34270328

ABSTRACT

This article reports on the lived experience of Medtronic advanced hybrid closed-loop (AHCL) in comparison to first generation hybrid closed-loop (HCL) in a randomized, open-label, two-period crossover trial. Patient-reported outcome (PROs) measures were administered before randomization and at the end of each study period in 113 adolescents and young adults with type 1 diabetes. Glucose monitoring satisfaction subscales for emotional burden and behavioral burden improved significantly (P < 0.01) over time with use of AHCL versus HCL and co-occurred with glycemic improvements (reduced percent time above 180 mg/dL during the day and no change in % time less than 54 mg/dL across 24 h) and greater time in Auto Mode. PROs, including distress, technology attitudes, and hypoglycemia confidence, were not different. AHCL use was associated with improved glucose monitoring satisfaction. Satisfaction was greater in those participants who had more appreciable glycemic benefit and stayed in Auto Mode more often. Clinical Trial Registration number: NCT03040414.


Subject(s)
Blood Glucose Self-Monitoring , Diabetes Mellitus, Type 1 , Adolescent , Blood Glucose , Diabetes Mellitus, Type 1/drug therapy , Humans , Hypoglycemic Agents/therapeutic use , Insulin/therapeutic use , Insulin Infusion Systems , Patient Reported Outcome Measures , Young Adult
10.
Am J Perinatol ; 27(5): 399-404, 2010 May.
Article in English | MEDLINE | ID: mdl-20013578

ABSTRACT

We compared ibuprofen and indomethacin for the treatment of patent ductus arteriosus (PDA) in preterm infants. A retrospective comparative study was conducted at a pediatric tertiary center in preterm infants diagnosed with PDA. Infants born from January 2000 to June 2003 were treated with indomethacin, whereas infants born from July 2003 to November 2005 were treated with ibuprofen. The two treatment groups were compared. Demographic data and clinical, laboratory, and outcome data were collected from the medical files. Seventy-three infants were included in the ibuprofen group and 46 in the indomethacin group. No significant difference in efficacy was found between indomethacin and ibuprofen. Compared with ibuprofen, indomethacin treatment was associated with significantly higher mean creatinine levels and a higher percent of infants with creatinine >1.2 mg/dL, hyponatremia <120 mmol/L, and platelet level <100,000 platelets/mL(3). There were no significant differences in bilirubin levels, incidence and grade of intraventricular hemorrhage, necrotizing enterocolitis, retinopathy of prematurity, rate of surgical duct ligation, sepsis, length of hospital stay, or mortality. Indomethacin and ibuprofen are equally effective for PDA closure in premature infants. Treatment with ibuprofen is safer, decreasing the risk of renal failure, thrombocytopenia, and hyponatremia.


Subject(s)
Cyclooxygenase Inhibitors/therapeutic use , Ductus Arteriosus, Patent/drug therapy , Ibuprofen/therapeutic use , Indomethacin/therapeutic use , Female , Humans , Infant, Newborn , Infant, Premature , Male , Premature Birth , Retrospective Studies , Treatment Outcome
11.
Eur J Med Genet ; 63(2): 103643, 2020 Feb.
Article in English | MEDLINE | ID: mdl-30922925

ABSTRACT

Majewski Osteodysplastic Primordial Dwarfism type II (MOPDII) is a form of dwarfism associated with severe microcephaly, characteristic skeletal findings, distinct dysmorphic features and increased risk for cerebral infarctions. The condition is caused by bi-allelic loss-of-function variants in the gene PCNT. Here we describe the identification of a novel founder pathogenic variant c.3465-1G > A observed in carriers from multiple Druze villages in Northern Israel. RNA studies show that the variant results in activation of a cryptic splice site causing a coding frameshift. The study was triggered by the diagnosis of a single child with MOPDII and emphasizes the advantages of applying next generation sequencing technologies in community genetics and the importance of establishing population-specific sequencing databases.


Subject(s)
Antigens/genetics , Founder Effect , Genetic Association Studies , Genetic Predisposition to Disease , Mutation , Adolescent , Alleles , Cell Line, Tumor , DNA Mutational Analysis , Dwarfism/diagnosis , Dwarfism/genetics , Facies , Female , Fetal Growth Retardation/diagnosis , Fetal Growth Retardation/genetics , Genetic Association Studies/methods , Genetic Testing , Humans , Israel , Male , Microcephaly/diagnosis , Microcephaly/genetics , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/genetics , Pedigree , Phenotype , Exome Sequencing
12.
Article in English | MEDLINE | ID: mdl-31681171

ABSTRACT

Introduction: Classical congenital adrenal hyperplasia is associated with an increased risk of obesity and cardiometabolic disease. The aim of the study was to determine if this is also true for non-classical congenital adrenal hyperplasia (NCCAH). Methods: A retrospective, cross-sectional, single-center study design was used. Data were collected on 114 patients (92 female) with NCCAH diagnosed during childhood/adolescence at a tertiary medical center. Patients were classified by treatment status at the last clinic visit. Outcome measures were assessed at diagnosis and the last clinic visit: weight status, body composition, blood pressure, lipid profile, and glucose metabolism. The prevalence of overweight/obesity was compared to the parental prevalence, and for patients aged 11-20 years, to the Israeli National Survey. Results: Mean age was 7.9 ± 4.2 years at diagnosis and 17.1 ± 6.9 years at the last follow-up. At the last clinic visit, 76 patients were under treatment with glucocorticoids, 27 were off-treatment (previously treated), and 11 had never been treated. The rate of obesity (11.4%) was similar to the parental rates, and the rate of overweight was significantly lower. In patients 11-20 years old, rates of obesity or obesity + overweight were similar to the general Israeli population (11.4 vs. 15.1%, P = 0.24 and 34.2 vs. 41.6% P = 0.18, respectively). No significant difference was found between glucocorticoid-treated and off-treatment patients in any of the metabolic or anthropometric parameters evaluated, except for a lower mean fat mass (% of body weight) in off-treatment patients (23.0 ± 7.7% vs. 27.8 ± 6.8%, P = 0.06). Systolic hypertension was found in 12.2% of NCCAH patients either treated or untreated. Conclusion: NCCAH diagnosed in childhood, whether treated or untreated, does not pose an increased risk of overweight, obesity, or metabolic derangements in adolescence and early adulthood.

13.
J Clin Endocrinol Metab ; 104(7): 2695-2700, 2019 07 01.
Article in English | MEDLINE | ID: mdl-30779848

ABSTRACT

CONTEXT: Central precocious puberty (CPP) may be the first presentation of nonclassical congenital adrenal hyperplasia (NCCAH) in girls. Data on the prevalence and the clinical phenotype of CPP associated with NCCAH are sparse. OBJECTIVES: To study the clinical and laboratory characteristics that could differentiate idiopathic CPP from CPP associated with NCCAH and to determine the prevalence of NCCAH among girls with CPP. DESIGN: Case-control study. SETTING: Tertiary pediatric endocrinology institute. PARTICIPANTS AND METHODS: From 2008 to 2017, 147 girls who had undergone stimulation tests with gonadotropin-releasing hormone and ACTH were diagnosed with CPP; of these, seven (4.8%) were eventually diagnosed with NCCAH. These seven patients together with 30 girls who presented with CPP during 1984 to 2008 and were later diagnosed with NCCAH comprised the NCCAH group. Demographic, anthropometric, clinical, and laboratory data were compared between the NCCAH group and the 140 girls with idiopathic CPP (ICPP group). RESULTS: No between-group differences were found in height, weight, body mass index, bone age, and Tanner stage. Mean basal levels of androstenedione, dehydroepiandrosterone-sulphate, and 17-hydroxyprogesterone were significantly higher in the NCCAH group, although ranges overlapped between the groups, and stimulated cortisol level was higher in the ICPP group. CONCLUSION: NCCAH was found in 4.8% of girls presenting with true CPP over 10 years, and no single parameter could differentiate between the diagnoses. Thus, in girls with true CPP from populations in which NCCAH is prevalent, assessment of adrenal androgens is required, and ACTH test should be considered.


Subject(s)
17-alpha-Hydroxyprogesterone/metabolism , Adrenal Hyperplasia, Congenital/metabolism , Androstenedione/metabolism , Dehydroepiandrosterone Sulfate/metabolism , Puberty, Precocious/metabolism , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Adrenocorticotropic Hormone , Case-Control Studies , Child , Child, Preschool , Estradiol/metabolism , Female , Follicle Stimulating Hormone/metabolism , Gonadotropin-Releasing Hormone , Humans , Hydrocortisone/metabolism , Luteinizing Hormone/metabolism , Puberty, Precocious/etiology , Retrospective Studies
14.
Horm Res Paediatr ; 88(3-4): 237-243, 2017.
Article in English | MEDLINE | ID: mdl-28715814

ABSTRACT

BACKGROUND: Childhood obesity is a major health concern. Excess adiposity during childhood affects growth and puberty. Our aim was to assess whether genetic adult height is compromised in adolescents with obesity. METHODS: In a retrospective study of 190 obese patients followed at our Pediatric Endocrinology Institute, adult height and delta height (the difference between adult height and mid-parental height) were compared to those of 150 healthy age-matched normal-weight controls. Review of medical files yielded the relevant clinical and anthropometric data of patients, controls, and parents. RESULTS: Of the 190 obese adolescents, 150 were morbidly obese. The median adult height of morbidly obese males was 174.3 cm, of obese males 174 cm, and of normal-weight males 176 cm (p = 0.025). Delta height of morbidly obese males was -0.5 cm, of obese males -0.8 cm, and of normal-weight males, 3 cm (p < 0.0001). The median adult height of morbidly obese females was 161.3 cm, of obese females 162.8 cm, and of normal-weight females 162 cm (p = 0.37). Delta height of morbidly obese females was -1.85 cm, of obese females -0.95 cm, and of normal-weight females 0.7 cm (p = 0.019). Impairment of potential genetic height was not associated with obesity-related comorbidities. CONCLUSION: Adolescents with obesity showed impairment of potential genetic adult height as compared to that of normal-weight subjects.


Subject(s)
Body Height/physiology , Body Mass Index , Pediatric Obesity/physiopathology , Adolescent , Adult , Female , Humans , Male , Retrospective Studies , Sex Factors
16.
Rev. flum. odontol ; 16(34): 3-6, jul.-dez. 2010.
Article in Portuguese | LILACS, BBO - dentistry (Brazil) | ID: lil-605622

ABSTRACT

Os pacientes hospitalizados necessitam tanto de cuidados especializados para os problemas que motivaram sua internação quanto de atenção para manter todo o sistema orgânico em funcionamento a fim de não comprometer o prognóstico. A inclusão de ações de saúde bucal na alta complexidade tem sido recomendada balizada no princípio da integralidade e dos resultados das pesquisas que mostram a inter-relação entre as doenças bucais e o comprometimento sistêmico. O objetivo desta pesquisa foi verificar se os hospitais que participam da rede de assistência do Sistema Único de Saúde na região centro Sul Fluminense adotam protocolos que incluem ações de saúde bucal para pacientes internados. Como método de coleta dos dados foi utilizado a entrevista semi-estruturada com profissional da enfermagem, indicado pela instituição pesquisada. Os resultados revelaram que apenas 55,5% das instituições hospitalares desenvolvem alguma atividade de saúde bucal, mas, em 100% dos hospitais, inexistem protocolos de cuidados de saúde bucal. Conclusão: há necessidade de uma política pública indutora da adoção de protocolos de saúde bucal para os pacientes hospitalizados pelas instituições de saúde.


Hospital patients need as much care to remedy the problems that prompted their admission and care to keep the whole body system in operation so as not to compromise the prognosis. The inclusion of oral health actions in high complexity hás been recommended buoyed by the results of research showing the interrelationship between oral disease and systemic involvement. The objective of this research was to determine whether hospitals service providers for the Unified Health System in central South Rio adopt measures or protocols of oral health in hospitalized patients. A methodology we used semi-structured instrument to verify the existence of a protocol of oral health care of hospitalized patients. The results revealed that only 55,5% of hospitals develop some activity of oral health, and 100% of the hospitals, there are no protocols for oral health care. Conclusion: there is a need for public policy induces the adoption of protocols for oral health to patients hospitalized for health to patients hospitalized for health institutions.


Subject(s)
Dentistry , Inpatients , Oral Health
17.
Clín. int. j. braz. dent ; 5(3): 276-282, jul.-set. 2009. ilus
Article in Portuguese | LILACS, BBO - dentistry (Brazil) | ID: lil-716535

ABSTRACT

A crescente busca por estética e o desejo de obter sorriso branco e harmonioso têm levado os pacientes a procurar mais por tratamentos clareadores. Em pacientes que apresentam alterações cromáticas extrínsecas e manchas intrínsecas localizadas, a microabrasão do esmalte apresenta bom resultado estético, além de ser procedimento rápido e de fácil execução. Sua associação ao clareamento dental caseiro torna-se alternativa minimamente invasiva, indicada para melhorar cor e estética dos dentes. Este trabalho relata, por mio de caso clínico, a associação da técnica de clareamento dental caseiro e microabrasão do esmalte. Utilizou-se peróxido de hidrogênio a 6% por duas horas diárias, durante quatro semanas, ao final, realizou-se microabrasão do esmalte com ácido clorídrico a 6,6%. Comprova-se a efetividade do tratamento mediante resultado clínico que atinge a expectativa estética do paciente.


The increasing search for esthetics and the desire a white, harmonious smile led patients to seek for bleaching treatments. In some clinical situations, such as patients presenting mild extrinsic chromatic changes and located intrinsic stains, enamel microabrasion is a fast, easy to perform procedure that procedures good esthetic results. The association between enamel microabrasion and home bleaching technique have shown to be minimally invasive and improves color and appearance of the teeth. The aim of this study was to report a clinical case where it was used home bleaching (6% hydrogen peroxide, 2 hours/day for 4 weeks) followed by enamel microabrasion (6.6% hydrochloric acid). It was concluded that this association produced a satisfactory clinical outcome, reaching patient’s esthetic expectations.


Subject(s)
Humans , Female , Young Adult , Enamel Microabrasion , Esthetics, Dental , Tooth Bleaching
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