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BACKGROUND: Glucose metabolism after kidney transplantation (KT) is highly dynamic with the first post-transplantation year being the most critical period for new-onset diabetes after transplantation (NODAT) occurrence. The present study aimed to analyze dynamics of glucose metabolism and report incidence/risk factors of abnormal glycemic state during the first year after KT in children. METHODS: Twenty-one consecutive freshly transplanted pediatric kidney transplant recipients (KTRs) were assessed for fasting plasma glucose (FPG) and oral glucose tolerance test (OGTT) weekly for 4 weeks, then every 3 months for 1 year. RESULTS: Interpretation of OGTT test showed normal glucose tolerance (NGT) in 6 patients (28.6%) while 15 (71.4%) experienced impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT) at any time point of monitoring. Seven patients had NODAT, for which three needed insulin therapy. Hyperglycemia onset was 7.8 ± 13.12 weeks (median (range) = 1 (0-24) week) after KT. Percent of patients with abnormal OGTT was significantly more than that of IFG (38.1% vs. 71.4%, p = 0.029). Patients with abnormal glycemic state had significantly elevated trough tacrolimus levels at 6 months (p = 0.03). Glucose readings did not correlate with steroid doses nor rejection episodes while positively correlating with tacrolimus doses at 3 months (p = 0.02, CC = 0.73) and 6 months (p = 0.01, CC = 0.63), and negatively correlating with simultaneous GFR at 9 months (p = 0.04, CC = - 0.57). CONCLUSIONS: Up to two thirds of pediatric KTRs (71.4%) experienced abnormal glycemic state at some point with peak incidence within the first week up to 6 months after KT. OGTT was a better tool for monitoring of glucose metabolism than FPG. Abnormal glycemic state was induced by tacrolimus and adversely affected graft function. A higher resolution version of the Graphical abstract is available as Supplementary information.
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Diabetes Mellitus , Transplante de Rim , Humanos , Criança , Glicemia , Tacrolimo/efeitos adversos , Transplante de Rim/efeitos adversos , Estudos Longitudinais , Diabetes Mellitus/etiologia , Estudos de Coortes , GlucoseRESUMO
INTRODUCTION: Kidney transplantation (KT) has been established as an efficient treatment of end stage renal disease (ESRD) with the advantage of allowing the patient to live a nearly healthy life. We aimed to determine whether pre-transplant body mass index (BMI) affects renal allograft function and survival in pediatric KT recipients. METHODS: cross sectional cohort study included 50 post KT recipients (more than 3 years) with an age range of 10 to 15 years, regularly following at the Kidney Transplantation Outpatient Clinic, Cairo University Children's Hospital, were subjected to a detailed history and physical examination, laboratory investigation in the form of fasting blood glucose (FBG),oral glucose tolerance test (OGTT), lipid profile, hemoglobin A1c (HbA1c) and microalbuminuria. RESULTS: Pre- post- kidney transplant BMI has significant positive correlation with graft rejection episodes, HbA1c, FBG, BMI post-KT, total cholesterol, triglycerides, and low-density lipoprotein (p < 0.01). There was a statistically significant negative correlation between the mean difference of BMI (post - pre) and graft survival in years (p = 0.036). Obese patients displayed lower survival compared with non-obese subjects at 5 years, but this was statistically not significant (p-value = 0.165). CONCLUSION: obesity is an independent risk factor for graft loss and patient death in kidney transplantation. Careful patient selection with pre-transplantation weight reduction is mandatory to reduce the rate of early post-transplantation complications and to improve long-term outcomes.
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Índice de Massa Corporal , Transplante de Rim , Obesidade Infantil , Adolescente , Criança , Estudos Transversais , Hemoglobinas Glicadas/análise , Sobrevivência de Enxerto , Humanos , Transplante de Rim/efeitos adversos , Obesidade Infantil/complicações , Fatores de RiscoRESUMO
Up: A schematic-diagram of POU1F1-gene. Down right: an electrophoretogram of the detected novel pathogenic-variant in comparison with wild-type POU1F1 exon-6 sequence. Down left: Family pedigree of the two-siblings reported.
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Mutação , Fenótipo , Fator de Transcrição Pit-1/genética , Hormônio Adrenocorticotrópico/deficiência , Encéfalo/anormalidades , Consanguinidade , Doenças do Sistema Endócrino , Estudos de Associação Genética , Doenças Genéticas Inatas , Loci Gênicos , Predisposição Genética para Doença , Homozigoto , Humanos , Hipoglicemia , Imageamento por Ressonância Magnética , Linhagem , IrmãosRESUMO
Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11ß-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive. We find that 11-deoxycortisol, not frequently measured, is the most robust biochemical marker for diagnosing 11ß-hydroxylase deficiency. Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11ß-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe disease. Thus, we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11ß-hydroxylase deficiency CAH.
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Hiperplasia Suprarrenal Congênita/genética , Esteroide 11-beta-Hidroxilase/genética , Hiperplasia Suprarrenal Congênita/patologia , África do Norte , Consanguinidade , Feminino , Hormônios Esteroides Gonadais/biossíntese , Hormônios Esteroides Gonadais/genética , Humanos , Masculino , Oriente Médio , Mutação de Sentido Incorreto , Linhagem , Esteroide 11-beta-Hidroxilase/químicaRESUMO
Uncontrolled type-1 diabetes (T1DM) can lead to dyslipidaemia and albuminuria, which may promote cardiovascular injuries. However, some lipidemic factors could be useful in predicting cardiac dysfunction. Seventy-eight adolescents under insulin treatment due to a 6-year history of T1DM and were retrospectively examined. Glycemia, lipidemia, and albuminuria were measured in addition to development of cardiovascular abnormalities Both girls and boys showed higher HbA1c and fasting blood glucose and 27.1% females and 33.3% males exhibited microalbuminuria though their plasma levels of total cholesterol (TC), triglycerides (TG), and low-density lipoproteins (LDL) and high-density lipoproteins (HDL lipoproteins were in the normal range. They exhibited a preserved systolic function, but 50% of females and 66.6% of males had developed diastolic failures. Interestingly, girls with diastolic dysfunction showed significantly lower concentrations of HDL and higher TC/HDL and TG/HDL ratios. In fact, low HDL levels (OR 0.93; 95% CI 0.88-0.99; p = 0.029) and high TC/HDL (OR 2.55; 95% CI 1.9-5.45; p = 0.016) and TG/HDL (OR 2.74; 95% CI 1.12-6.71; p = 0.028) ratios associated with the development of diastolic complications. The cut-off values for HDL, TC/HDL, and TG/HDL were 49 mg/dL, 3.0 and 1.85, respectively. HDL and TC/HDL and TG/HDL ratios may be useful for predicting diastolic dysfunction in girls with uncontrolled T1DM.
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Biomarcadores/sangue , Diabetes Mellitus Tipo 1/sangue , Insuficiência Cardíaca Diastólica/sangue , Insuficiência Cardíaca Diastólica/complicações , Lipídeos/sangue , Adolescente , Albuminúria/sangue , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/complicações , Criança , Colesterol/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Estudos de Coortes , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 1/urina , Ecocardiografia , Feminino , Hemoglobinas Glicadas/metabolismo , Controle Glicêmico , Insuficiência Cardíaca Diastólica/metabolismo , Humanos , Hiperglicemia/sangue , Hiperlipidemias/sangue , Masculino , Estudos Retrospectivos , Triglicerídeos/sangueRESUMO
BACKGROUND: Diabetes control without developing hypoglycemia is challenging in Type 1 diabetes (T1D) management, with few studies evaluating the effect of insulin glargine timing on glucoregulation. OBJECTIVES: The aim is to compare glycemic control using continuous glucose monitoring (CGM) in children with T1D receiving bedtime versus morning glargine and to assess CGM effect on glycemia. METHODS: This cross-sectional observational study was conducted on 30 pediatric patients with T1D receiving glargine (19 at bedtime and 11 in the morning). CGM sensor was applied for 3-5 days using the I-Pro2 blood glucose sensor. RESULTS: Total daily dose of glargine showed a significant correlation with HbA1C (p=0.006) and percentage of glucose readings within average (p=0.039). HbA1C correlated significantly with time in range (TIR) (p=0.049). Nocturnal hypoglycemia was significantly higher in the bedtime glargine group than in the morning one (p=0.016). The morning glargine group showed better control in terms of lower HbA1C and higher TIR, but these did not reach statistical significance. Follow- up after 3 months revealed significant improvement in the percentage of hyperglycemia, BG readings within average, as well as HbA1c (p:0.001). CONCLUSIONS: Bedtime glargine administration was associated with a higher frequency of occurrence of nocturnal hypoglycemia. No statistically significant difference in glycemic control between both groups was found. CGM use improved glycemic control.
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Diabetes Mellitus Tipo 1 , Hipoglicemia , Humanos , Criança , Insulina Glargina/efeitos adversos , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes/efeitos adversos , Hemoglobinas Glicadas , Automonitorização da Glicemia , Egito , Estudos Transversais , Controle Glicêmico , Insulina de Ação Prolongada/efeitos adversos , Glicemia , Insulina/efeitos adversos , Hipoglicemia/induzido quimicamente , Hipoglicemia/prevenção & controleRESUMO
OBJECTIVES: This research aimed at uncovering the mechanisms behind obesity-related hypogonadism in adolescent boys and to investigate the association between anthropometric characteristics and testicular functions of these boys. METHODS: This study included 60 adolescent boys (12-18 years) with exogenous obesity (BMI≥95th percentile) and 30 age matched lean controls (BMI=15th-85th percentile). Full clinical examination, anthropometric measurements and pubertal assessment were performed. Laboratory investigations included hemoglobin, hematocrit, lipid panel, LH, FSH, free and total testosterone, inhibin B and estradiol. RESULTS: The results indicated the presence of positive family history of obesity in 85% of obese boys vs. 40% of the lean counterparts. Concerning SBP of obese boys, 7% were hypertensive (95th percentile), 25% were prehypertensive (between 90th and 95th percentiles) while, DBP findings showed that 33% are hypertensive and 33% are prehypertensive. Meanwhile, 13.3% of lean controls were prehypertensive. Anthropometric measurements and lipid profile values revealed a significant difference between obese and lean boys. Compared to obese boys the normal weight boys had higher levels of free testosterone (21.15 ± 2.90 pg/mL vs. 11.38 ± 3.96 pg/mL, p<0.001), total testosterone (10.59 ± 6.63 ng/dL vs. 3.23 ± 1.70 ng/dL, p<0.001), FSH (7.33 ± 3.75 mIU/mL vs. 5.63 ± 3.96 mIU/mL, p=0.026) and inhibin B (83.28 ± 27.66 pg/mL vs. 62.90 ± 17.85 pg/mL, p=0.001) and they registered lower level of estradiol (18.48 ± 7.33 pg/mL vs. 40.20 ± 7.91 pg/mL, p<0.001). In obese boys, BMI SDS significantly correlated with lipid profile and estradiol whereas, it showed significant negative correlation with LH, free and total testosterone and inhibin B. Penile length significantly correlated with LH while it revealed significant negative correlation with cholesterol. CONCLUSIONS: This study evidenced a close association between obesity and hypogonadism in adolescent boys which could be due to the increased estradiol level and decreased T/E2 ratio.
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Hipogonadismo , Hormônio Luteinizante , Obesidade Infantil , Adolescente , Humanos , Masculino , Estradiol , Hormônio Foliculoestimulante , Hipogonadismo/epidemiologia , Hipogonadismo/etiologia , Inibinas , Lipídeos , Testosterona , Obesidade Infantil/complicaçõesRESUMO
Background: Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the CYP21A2 gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological stress. Aim: Detection of a spectrum of aberrations in the CYP21A2 gene, including copy number variations, gene conversion, chimeric genes, and point variations. Methods: The CYP21A2 gene was screened using MLPA assay in 112 unrelated Egyptian children with 21-OHD CAH (33 males and 79 females). Results: In the studied group, 79.5% were diagnosed within the first month of life. 46.8% of the genetic females were misdiagnosed as males. Among the copy number variation results, large deletions in 15.4% and three types of chimeric genes in 9% (CH-1, CH-7, and CAH-X CH-1) were detected. Regarding gene dosage, one copy of CYP21A2 was found in 5 cases (4.5%), three copies were detected in 7 cases (6.3%), and one case (0.9%) showed four copies. Eight common genetic variants were identified, I2G, large deletions, large gene conversion (LGC), I172N, F306 + T, -113 SNP, 8bp Del, and exon 6 cluster (V237E and M239K) with an allelic frequency of 32.62%, 15.45%, 7.30%, 3.00%, 2.58%, 2.15%, 0.86%, and 0.86%, respectively. Conclusion: High prevalence of copy number variations highlights the added value of using MLPA in routine laboratory diagnosis of CAH patients.
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Obesity increases the risk of chronic kidney disease in children. Our aim was to assess urinary podocalyxin (PCX) in children and adolescents with obesity as a potential marker of obesity-related kidney disease (ORKD). The current case-control study included 128 children with obesity compared to 60 non-obese age and sex matched controls. Study population were subjected to full history taking as well as thorough physical examination. Urine samples for albumin creatinine ratio (uACR) and PCX were collected from the study population as well as blood samples for assessment of serum creatinine and fasting lipid profile. A statistically significant difference was found between cases and controls regarding urinary PCX (P < .001) and uACR (P = .021). A statistically significant positive correlation was found between uACR and weight SD score (SDS), body mass index SDS, waist circumference, estimated glomerular filtration rate, triglycerides (TG) as well as urinary PCX, whilst urinary PCX correlated significantly with obesity duration and uACR. Cases with microalbuminuria had a statistically significant higher waist circumference, waist-hip ratio, fat percentage, TG and urinary PCX compared to those with normal uACR (P = .042, .034, .05, .018 and .036 respectively). Urinary PCX showed 83.3% sensitivity and 74% specificity in detection of albuminuria. Urinary PCX was increased significantly in children with obesity making it a potential sensitive marker of ORKD in children.
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Nefropatias , Obesidade Infantil , Adolescente , Albuminas , Estudos de Casos e Controles , Criança , Creatinina , Humanos , Nefropatias/etiologia , Obesidade Infantil/complicações , SialoglicoproteínasRESUMO
Background Congenital adrenal hyperplasia (CAH) is a chronic disorder causing adrenal insufficiency and hyperandrogenism affecting the quality of life (QOL). The objective of the study was to assess the health-related QOL (HRQOL) in Egyptian children and adolescents with CAH and to identify factors affecting it. Methods This cross-sectional study included 200 CAH patients (with 21-hydroxylase deficiency [21-OHD]) who were assessed according to their age, sex, clinical phenotype, timing of genitoplasty, hospital admissions within the last year, compliance to treatment, regularity of follow-up, presence of complications and hormonal control. HRQOL was assessed using the World Health Organization (WHO)QOL-BREF questionnaire with four domains analyzed independently including physical, psychological, social and environmental domains, with higher scores indicating better QOL. Results The study included 140 females and 60 males with a mean age of 6.6 ± 4.5 years, and 88% were salt-wasting (SW). Older patients had significantly lower QOL scores (r = - 0.151, p = 0.033). The physical domain correlated significantly with the degree of virilization (r = - 0.491, p = 0.001) and frequency of hospitalization (r = - 0.495, p < 0.001). The psychological domain was affected by age (r = - 0.157, p = 0.026) and timing of genitoplasty (r = - 0.326, p = 0.001), while the social domain was affected by age (r = -0.277, p < 0.005) and pubertal stage (r = - 0.195, p = 0.006). Females had lower scores at the psychological domain (p < 0.001), whereas males had lower scores at the physical domain (p = 0.003). Salt-losing patients had lower scores at the physical domain (p = 0.001). Patients with good hormonal control had higher scores at the physical domain (p = 0.03). Genitoplasty affected both psychological and social domains (p = 0.003 and 0.01, respectively). Patients with hypertension and hirsutism had lower QOL scores (p < 0.05). Conclusions HRQOL was relatively more affected in CAH patients with older age, poor hormonal control, high frequency of hospital admissions and those who developed complications.
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Hiperplasia Suprarrenal Congênita/psicologia , Qualidade de Vida , Adolescente , Hiperplasia Suprarrenal Congênita/fisiopatologia , Criança , Pré-Escolar , Estudos Transversais , Egito , Meio Ambiente , Feminino , Seguimentos , Indicadores Básicos de Saúde , Humanos , Lactente , Masculino , Prognóstico , Fatores Socioeconômicos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Vitamin D (VD) was suggested to have both direct and indirect effects on modifying lipid profile in patients with diabetes through its regulatory action that increases the activity of lipoprotein lipase in adiposity. OBJECTIVES: To detect the relationship between serum 25-hydroxyvitamin D (25OHD) and lipid profiles in dyslipidemic T1D patients and study the effect of VD supplementation on lipid profiles of VD-deficient T1D patients. METHODS: Fifty patients with T1D (for >2 years) and dyslipidemia were included. 25OHD was assessed and patients were divided accordingly into 2 groups: VD sufficiency (>30 ng/mL) and VD deficiency (VDD) or insufficiency (<29 ng/mL) who were allocated to VD3 supplementation for 4 months, then lipid profile was reevaluated in both groups. RESULTS: Thirty patients had VDD, while 20 patients had VD sufficiency. There was no significant correlation between 25OHD and different study parameters (p > 0.05). A significant difference was found among both groups in the family history of coronary heart disease (p = 0.036) and free tetraiodothyronine 4 (p = 0.035). After 4 months of VD supplementation in VDD group, the mean difference (at 0 and 4 months) in low-density lipoproteins (LDL) and hemoglobin A1c (HbA1c) was statistically significant (p = 0.02 and 0.04 respectively) between both groups. The mean basal LDL was 126.91 mg/dL in VDD group that improved to 117.13 mg/dL after 4 months of VD therapy with a mean difference of -9.7 mg/dL compared to a mean difference of -2 mg/dL in VD sufficiency group. CONCLUSIONS: VDD was highly prevalent in patients with T1D. There was no significant correlation between 25OHD levels and lipid profile in patients with T1D. VD supplementation for 4 months had a significant lowering effect on LDL and HbA1c.
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Diabetes Mellitus Tipo 1 , Dislipidemias , Lipídeos/sangue , Deficiência de Vitamina D , Vitamina D/administração & dosagem , Adolescente , Criança , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/tratamento farmacológico , Dislipidemias/sangue , Dislipidemias/complicações , Dislipidemias/tratamento farmacológico , Feminino , Humanos , Masculino , Estudos Prospectivos , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológicoRESUMO
Background Hyperandrogenism with or without polycystic ovarian syndrome is seen in adolescents with type 1 diabetes (T1D), especially those with suboptimal control. Objective To assess the effect of metformin on hyperandrogenism and ovarian function in adolescents with T1D. Methods This prospective study included 28 T1D females showing signs of hyperandrogenism. History taking (detailed diabetes history and menstrual history) and anthropometric measurements (weight, height, body mass index [BMI], waist and hip circumference) were initially performed, and then the patients were assessed for the manifestations of hyperandrogenism (acne, hirsutism as well as pelvic ultrasound [U/S] for ovarian morphology). Biochemical evaluation for ovulation (progesterone assessment during the luteal phase), sex steroids (estradiol, testosterone, dehydroepiandrosterone sulfate [DHEAS] and androstenedione), prolactin, glycemic control (hemoglobin A1c [HbA1c]) and gonadotropin levels (follicle stimulating hormone [FSH] and luteinizing hormone [LH]) was done. Patients were subjected to 500 mg metformin twice daily orally for 1 year, and then the patients were re-evaluated for clinical and biochemical parameters. Results Metformin therapy resulted in a significant reduction in weight (p = 0.001), BMI (p = 0.002), acne (p = 0.008), hirsutism score (0.007), LH (p = 0.008), testosterone (p < 0.001) and androstenedione levels (p = 0.028) in adolescent girls with T1D. Regarding menstrual irregularities, there was a significant reduction in the number of patients with oligomenorrhea (68%) with a p value of <0.001. However, there were no significant reduction in the daily insulin requirements (p = 0.782) or HbA1c (p = 0.068). Nausea and/or abdominal pain were the commonly reported side effects of metformin (64%). Conclusions Metformin as an insulin sensitizing agent improved the BMI and cycle regularity together with clinical and biochemical hyperandrogenism in T1D adolescent girls. However, it did not improve their glycemic control.
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Biomarcadores/análise , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hiperandrogenismo/induzido quimicamente , Hipoglicemiantes/efeitos adversos , Metformina/efeitos adversos , Adolescente , Adulto , Criança , Diabetes Mellitus Tipo 1/patologia , Feminino , Seguimentos , Humanos , Prognóstico , Estudos Prospectivos , Adulto JovemRESUMO
CYP21A2 genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype-phenotype correlations has facillitated adequate genetic counseling and prenatal management for at-risk families. Despite extensive efforts to establish a clear genotype-phenotype correlation, some discordance remains. Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of CYP21A2 mutations may help confirm the diagnosis. We review the diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. Other diagnostic entities should be considered in the absence of convincing genetic data.
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Hiperplasia Suprarrenal Congênita/enzimologia , Hiperplasia Suprarrenal Congênita/genética , Mutação , Esteroide 21-Hidroxilase/genética , Hiperplasia Suprarrenal Congênita/diagnóstico , Pré-Escolar , Análise Mutacional de DNA , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/enzimologia , Transtornos do Desenvolvimento Sexual/genética , Egito , Éxons , Feminino , Estudos de Associação Genética , Perfil Genético , Humanos , Lactente , Recém-Nascido , Íntrons , MasculinoRESUMO
BACKGROUND: Type 1 diabetes (T1D) is a serious chronic illness that imposes significant morbidity and mortality with a major impact on the quality of life (QoL) that became a core issue in diabetes care. Understanding the effect of diabetes on QoL is important for day-to-day clinical management and also for public health policy initiatives aiming at improving health outcomes for those with diabetes. The objective of the study was to assess the QoL in adolescents with T1D and assess the applicability of the use of the "Quality of Life for Youth" questionnaire at the Diabetes, Endocrine and Metabolism Pediatric Unit (DEMPU) clinic. METHODS: One hundred and fifty adolescents (82 males and 68 females) (10-18 years), with T1D of at least 1 years' duration, completed the questionnaire that evaluated symptoms related to diabetes, treatment, activities, parent issues, worries about diabetes and health perception. Higher scores indicated a more negative impact of diabetes and poorer QoL. RESULTS: Males showed a significantly better mean QoL score than females (p=0.004). Different age groups showed different QoL scores (p=0.047). Urban adolescents had a better QoL than rural counterparts (p=0.02). Adolescents with poor QoL had generally lower educational level (p=0.02). Better metabolic control was associated with a better QoL (p=0.01). However, duration of diabetes and body mass index (BMI) had no statistically significant effect on QoL. CONCLUSIONS: QoL had a variable significant association with certain socio-demographic and clinical characteristics of diabetics (sex, residence, educational level as well as metabolic control).
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Diabetes Mellitus Tipo 1/psicologia , Qualidade de Vida/psicologia , Adolescente , Biomarcadores/análise , Glicemia/análise , Criança , Egito , Feminino , Seguimentos , Hemoglobinas Glicadas/análise , Humanos , Masculino , Prognóstico , Inquéritos e QuestionáriosRESUMO
BACKGROUND: The association of low serum 25 hydroxy cholecalciferol (25OHD) levels with high glucose level and diminished insulin sensitivity suggests that vitamin D (VD) may modulate insulin metabolism. The aim of the study was to screen for vitamin D deficiency (VDD) in pediatric patients with type 1 diabetes (T1D) and study the effect of VD supplementation on their glycemic control and insulin requirements. METHODS: A prospective cohort study including 50 patients with T1D. VD level was assessed initially and after 3 months of VD supplementation (in those with VDD). HbA1c and insulin requirements were studied at 0, 3 and 6 months of supplementation. RESULTS: Fifty patients with T1D were included with mean diabetes duration of 4.11±2.34 years. VD level ranged from 0.2 to 33 ng/mL. VD status correlated significantly with daily insulin dose (p=0.030, r=0.306) and HbA1c (p<0.001, r=0.243). Thirty-five patients (70%) had VDD and were allocated for VD supplementation for 3 months. The mean HbA1c improved significantly after supplementation (p=0.003), followed by a significant deterioration at 6 months with no change in their insulin requirements at 3 or 6 months. CONCLUSIONS: VD was highly prevalent in Egyptian T1D patients. VD supplementation improved glycemic control at 3 months after therapy with no reduction in insulin requirements.
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Diabetes Mellitus Tipo 1/fisiopatologia , Hiperglicemia/prevenção & controle , Hipoglicemia/prevenção & controle , Deficiência de Vitamina D/epidemiologia , Vitamina D/administração & dosagem , Adolescente , Glicemia/metabolismo , Criança , Pré-Escolar , Egito/epidemiologia , Feminino , Seguimentos , Hemoglobinas Glicadas/análise , Humanos , Hiperglicemia/etiologia , Hipoglicemia/etiologia , Lactente , Masculino , Prevalência , Prognóstico , Estudos ProspectivosRESUMO
BACKGROUND: The prevalence of obesity in children and adolescents has increased significantly worldwide with an alarming rise of its co-morbidities. The excess of visceral adipose tissue is associated with hypertension, prothrombotic and pro-inflammatory states. Our aim was to find a possible association between visceral obesity and plasma fibrinogen, as one of the cardiovascular risk factors, in obese children. METHODS: Forty-three obese children and 40 non-obese controls were studied regarding their history, complete physical examination, anthropometric assessment, body composition analysis, ultrasonographic measurement of visceral adipose tissue and subcutaneous fat as well as laboratory measurement of plasma fibrinogen. RESULTS: Our study revealed significant higher levels of fibrinogen in obese children than controls (14.5+5.1 and 2.9+0.52 mg/mL, respectively) with p-value <0.01. Moreover, the obese group had statistically significant difference in visceral fat (5.96+0.77 cm) and subcutaneous fat (2.66+0.70 cm) than controls (2.45+0.65 and 0.70+0.18 mg/mL, respectively) with p-value <0.01. In addition, fibrinogen had significant positive correlation with body mass index (r=0.327), waist/hip ratio (r=0.394), fat percentage (r=0.301), visceral adipose tissue (r=0.323) and subcutaneous fat (r=0.301). CONCLUSIONS: There was highly significant increase in the fibrinogen level, visceral and subcutaneous abdominal fat in the obese group with insignificant sex differences. Fibrinogen had a significant positive correlation with the different adiposity markers, blood pressure, visceral and subcutaneous fat. Visceral adipose tissue is a stronger predictor for cardiovascular risk compared to subcutaneous fat.
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Tecido Adiposo/patologia , Doenças Cardiovasculares/diagnóstico , Fibrinogênio/metabolismo , Gordura Intra-Abdominal/patologia , Obesidade Abdominal/complicações , Tecido Adiposo/diagnóstico por imagem , Tecido Adiposo/metabolismo , Adolescente , Biomarcadores/metabolismo , Glicemia/metabolismo , Índice de Massa Corporal , Doenças Cardiovasculares/diagnóstico por imagem , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/metabolismo , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Seguimentos , Humanos , Gordura Intra-Abdominal/diagnóstico por imagem , Gordura Intra-Abdominal/metabolismo , Masculino , Obesidade Abdominal/diagnóstico por imagem , Prognóstico , Fatores de Risco , Ultrassonografia/métodos , Relação Cintura-QuadrilRESUMO
BACKGROUND: Congenital adrenal hyperplasia in females leads to virilization of external genitalia and persistent urogenital sinus. There are controversies regarding the timing and outcomes of surgery. Deferring surgeries beyond childhood is difficult to implement in conservative societies, and may result in stigmatization and distress to individuals with disorders of sexual differentiation and their families. METHODS: Thirty girls with virilization due to congenital adrenal hyperplasia were admitted for single-stage feminizing genitoplasty, between 2011 and 2014. We prospectively studied the concerns and input of the families represented by the mothers. After comprehensive counselling, the mothers completed a questionnaire to clarify their priorities and concerns related to surgery. RESULTS: Surgeries were performed at a mean age of 22 months. Most cases ranged between Prader's degrees III and IV. Egyptian families believe that early surgical reconstruction is in the best interest of their girls. They are marginally more concerned about functional outcomes and future child bearing than external appearance and cosmetic outcomes. CONCLUSIONS: Social difficulties noticeably add challenges to the management plan within conservative societies. Early genital reconstructive surgery, when reasonably indicated, needs to remain a viable option. Comprehensive psychosocial support within a multidisciplinary approach is needed to defer feminizing genitoplasty in selected cases to adolescence.
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Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Hiperplasia Suprarrenal Congênita/cirurgia , Procedimentos de Cirurgia Plástica , Virilismo/cirurgia , Pré-Escolar , Egito , Feminino , Seguimentos , Humanos , LactenteRESUMO
BACKGROUND/AIMS: An association of type 1 DM and familial Mediterranean fever (FMF) has been newly reported in the medical literature. The aim of the present work was to investigate frequency of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus. METHODS: Forty five children with type 1 DM were screened for Mediterranean Fever (MEFV) gene mutation. Forty one healthy control subjects were included. Identification of FMF gene mutation was done based on polymerase chain reaction (PCR) and reverse hybridization. The assay covers 12 mutations in the FMF gene: E148Q - P369S - F479L - M680I (G/C) - M680I (G/A) - I692del - M694V - M694I - K695R-V726A - A744S and R761H. RESULTS: Among the screened diabetics, the overall frequency of MEFV gene mutations was 42.2% and among the control group it was 34.1% with no significant difference. Fourteen out of 45 diabetic children (31.1%) were heterozygous (E148Q in 7 children, A744S in 3 children, V726A in 2 children, M680I (G/C) in 1 child and P369S in1 child), while 5 children (11.1%) were compound heterozygous (M694V/M694I in 2 children, E148Q/K695R mutations in 1 child, E148Q/M694I in 1 child and E148Q/V726A in 1 child). The control group showed heterozygous mutation in 34.1% of cases (E148Q mutation in 14.6%, V726A in 12.2%, M680I (G/C) in 4.9% and M694V in 2.4%). CONCLUSION: No significant difference in mutation frequency between diabetic and non-diabetic children. We have high carrier rate of MEFV gene mutations among Egyptian population probably due to high consanguinity.