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1.
Pediatr Nephrol ; 38(11): 3693-3698, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37204490

RESUMEN

BACKGROUND: Type 1 diabetes mellitus (T1DM) is a common endocrine disease in children. Early recognition of complications of T1DM is important for preventing long-term morbidity and mortality. We aimed to investigate whether urinary haptoglobin level is a biomarker of diabetic nephropathy in children with T1DM. METHODS: Ninety T1DM patients, aged between 2-18 years, and 60 healthy age-matched children were included in the study. Glycosylated hemoglobin (HbA1c), spot urine creatinine, microalbumin, protein and haptoglobin levels of all cases were measured and compared. Correlations between HbA1c level, duration of diabetes, spot urine microalbumin/creatinine (uACR), protein/creatinine (uPCR), and haptoglobin/creatinine (uHCR) ratios in the T1DM group were evaluated. RESULTS: T1DM and control groups were homogeneous in terms of age, sex, and anthropometric measurements. uACR was higher in the T1DM group than in the control group (14 mg/g vs. 6 mg/g) while uHCR was not elevated in T1DM patients. Nevertheless, uHCR was higher in the microalbuminuria group when compared to the normoalbuminuria group. In the T1DM group, moderate positive correlations between uPCR with uACR and uHCR, and weak correlation between uACR and uHCR were found (r = 0.60, p < 0.001; r = 0.55, p < 0.001; r = 0.24, p = 0.03, respectively). No significant relationship was found between diabetes duration, HbA1c levels and uACR, uPCR, and uHCR. CONCLUSIONS: Although uHCR in the T1DM group was similar to the control group, uHCR was higher in the microalbuminuria group than in the normoalbuminuria group. These results show that the uHg level could be a biomarker of diabetic nephropathy, but not earlier than albuminuria in the disease course. A higher resolution version of the Graphical abstract is available as Supplementary information.


Asunto(s)
Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Nefropatías Diabéticas , Humanos , Niño , Preescolar , Adolescente , Diabetes Mellitus Tipo 1/complicaciones , Nefropatías Diabéticas/diagnóstico , Nefropatías Diabéticas/etiología , Haptoglobinas , Diabetes Mellitus Tipo 2/complicaciones , Creatinina/orina , Hemoglobina Glucada , Biomarcadores/análisis , Albuminuria/etiología , Albuminuria/complicaciones
2.
Am J Med Genet A ; 188(9): 2701-2706, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35792517

RESUMEN

Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual disability, hypogonadism, and pituitary hypoplasia. To describe a new patient with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compare her clinical and molecular characteristics and pituitary functions with previously published patients. A 20-year-old female presented with severe growth, neuromotor, and developmental delay. Her weight, height, and head circumference were 5135 gr (-25.81 SDS), 68 cm (-16.17 SDS), and 34 cm (-17.03 SDS), respectively. She was prepubertal, and had dysmorphic facies, contractures, and spasticity in the extremities, and severe truncal hypotonia. There were no radiological signs of a skeletal dysplasia. The bone age was extremely delayed at 2 years. Investigation of pituitary function revealed growth hormone, prolactin, and thyroid-stimulating hormone deficiencies. Whole-exome sequencing revealed a novel homozygous missense (c.1328A > G; Y443C) variant in RNPC3. Cranial MRI revealed a hypoplastic anterior pituitary with diffuse cerebral and cerebellar atrophy. The Y443C variant in RNPC3 associated with syndromic congenital hypopituitarism and abnormal brain development. This report extends the RNPC3-related hypopituitarism phenotype with a severe neurodegenerative presentation.


Asunto(s)
Hormona de Crecimiento Humana , Hipopituitarismo , Hipotiroidismo , Atrofia , Femenino , Hormona del Crecimiento/genética , Homocigoto , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/genética , Hipotiroidismo/genética , Proteínas Nucleares/genética , Hipófisis/anomalías , Proteínas de Unión al ARN/genética
3.
Pediatr Int ; 64(1): e15290, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36257614

RESUMEN

BACKGROUND: Arrhythmias can be seen as a sign of cardiac autonomic neuropathy in type 1 diabetes mellitus. We aimed to evaluate pulmonary artery pressure, ventricular depolarization and repolarization variability in children with type 1 diabetes mellitus. METHODS: We investigated 78 children with type 1 diabetes mellitus (mean age 11.6 ± 3.6 years) and 68 age-gender matched healthy children as control group. All type 1 diabetes mellitus patients were divided into three subgroups according to glycated hemoglobin (HbA1c) levels and the duration of disease. Electrocardiogram and transthoracic echocardiograms were performed on both groups. RESULTS: In patients with type 1 diabetes mellitus, there was an elongation in P, Pd, PR, QTc, QTd, QTcd, JT, JTc, JTd, Tp-Te and Tp-Te/QT, Tp-Te/QTc, Tp-Te/JT, Tp-Te/JTc ratios were higher (P < 0.05). In patients with type 1 diabetes mellitus, pulmonary artery pressure was higher than control group (P = 0.001). Prolongation of QTc, thickness of left ventricle end-diastolic diameter and left ventricle posterior wall diameter were higher in the HbA1c ≥9% subgroup. When adjusted for age there was no significant correlation between left ventricle parameters and HbA1c. CONCLUSIONS: Atrial conduction delay and impairment of ventricular repolarization were significantly high and there was a predisposition for the development of pulmonary artery hypertension in children with type 1 diabetes mellitus. Poor glycemic control was not a risk factor for propensity of left ventricle hypertrophy and left ventricle dysfunction.


Asunto(s)
Diabetes Mellitus Tipo 1 , Niño , Humanos , Adolescente , Hemoglobina Glucada , Diabetes Mellitus Tipo 1/complicaciones , Arritmias Cardíacas/etiología , Electrocardiografía , Ventrículos Cardíacos
4.
Pediatr Int ; 64(1): e15355, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36564342

RESUMEN

BACKGROUND: Hypertension (HT) in obesity has been reported frequently in children in recent years. The role of copeptin and uric acid here are not well known. We aimed to investigate the relationship between HT and serum copeptin and uric acid levels in children with obesity. METHODS: We included 80 children with obesity who were admitted to our hospital between April 2018 and September 2018. The patients were separated into two groups: hypertensive and non-hypertensive. Serum copeptin levels were measured using the enzyme-linked immunosorbent assay. RESULTS: Copeptin levels were significantly higher in patients with HT than in those without (p = 0.0001). In addition, serum uric acid levels in patients with HT were significantly higher, while the serum potassium levels were significantly lower (p = 0.01) than in those without HT (p = 0.001). In correlation analyses, a positive correlation was detected between blood sodium and copeptin levels (p = 0.037). CONCLUSIONS: Hypertensive children with obesity had higher serum copeptin and uric acid and lower blood potassium levels. Moreover, copeptin levels were positively correlated with blood sodium levels. Thus, in addition to copeptin, serum uric acid, potassium, and sodium levels may be important in the diagnosis and follow-up of children with HT.


Asunto(s)
Hipertensión , Ácido Úrico , Humanos , Niño , Hipertensión/complicaciones , Hipertensión/diagnóstico , Obesidad/complicaciones , Biomarcadores , Potasio , Sodio
5.
Turk J Med Sci ; 51(3): 1396-1405, 2021 06 28.
Artículo en Inglés | MEDLINE | ID: mdl-33576586

RESUMEN

Background/aim: Familial Mediterranean fever (FMF), the most common autoinflammatory disease in children, is characterized by recurrent febrile episodes. FMF is known to progress with chronic inflammation, particularly during attack periods. This study aimed to investigate the relationship of S100A12, an inflammatory marker, with attacks and inflammatory events in FMF patients. Materials and methods: The study included 57 patients diagnosed with FMF, 43 in an attack-free period and 14 in an attack period, and 31 healthy children as the control group. Only white blood cell (WBC) count, C-reactive protein (CRP) level, erythrocyte sedimentation rate (ESR), and S100A12 level were analyzed in the control group. In addition, serum amyloid A (SAA), and fibrinogen levels were measured, and a mutation analysis was performed in the patient group. The results were compared among the attack-free period, acute attack FMF and control groups. Results: The mean age of patients and control group was 10 (2.5­18) and 9.5 (2.5­16) years, respectively. The CRP (p = 0.001), S100A12 (p = 0.003) and ESR (p= 0.001) values differed significantly between the FMF and control groups. S100A12 level (p = 0.027), WBC count (p = 0.003), CRP level (p = 0.0001), ESR (p = 0.004), and fibrinogen level (p = 0.001) differed significantly between the acute attack and attack-free period groups. SAA level (p = 0.05), ESR (p = 0.001), fibrinogen level (p = 0.001), WBC count (p = 0.001), and S100A12 level (p = 0.027) were higher in M694V homozygous FMF patients than in other FMF patients. Conclusion: Patients with FMF had higher S100A12 levels than the control group, while the mean S100A12 concentration was higher in acute attack period patients than in attack-free period patients. S100A12 level might be an important indicator in the monitoring of chronic inflammation in patients with FMF.


Asunto(s)
Fiebre Mediterránea Familiar , Sedimentación Sanguínea , Proteína C-Reactiva/análisis , Fiebre Mediterránea Familiar/genética , Fibrinógeno , Humanos , Inflamación , Proteína S100A12
6.
J Clin Res Pediatr Endocrinol ; 14(4): 385-392, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-35633646

RESUMEN

Objective: Premature pubarche (PP) is a risk factor for metabolic syndrome (MS). The aim was to evaluate if glucose-insulin metabolism, cardiovascular risk factors, familial cardiovascular risk factors (FCVRF) created a risk for insulin resistance (IR) and if PP was a risk factor alone for MS in normal weight prepubertal girls with PP. Methods: Thirty-five prepubertal, non-obese girls with PP with normal birth weight and 35 age-matched control girls were evaluated for FCVRF, anthropometric measurements, blood pressure, lipid profile, fasting blood glucose-insulin, hemoglobin A1c (HbA1c), sex hormone binding globulin (SHBG), leptin, adiponectin, tumor necrosis factor-alpha (TNF-α), androgen levels, and bone age. Oral glucose tolerance test was performed in PP participants. Homeostasis model of assessment of IR (HOMA-IR), fasting glucose/insulin ratio, atherogenic index (AI), and free androgen index (FAI) were calculated. PP participants were further stratified by FCVRF. Results: HbA1c, lipid profile, testosterone, leptin, adiponectin, TNF-α, HOMA-IR, glucose/insulin ratio, AI, and fasting glucose-insulin levels were similar. In the PP group FAI was significantly higher (p=0.001), whereas SHBG was significantly lower (p=0.010) than the control group. Leptin levels of FCVRF+ and FCVRF- subgroups were 15.2±9.1 and 9.7±7.2 ng/mL, respectively and the difference was significant (p=0.016). Conclusion: As PP does not appear to be a risk factor alone for impaired glucose metabolism and IR in prepubertal non-obese girls with normal birth weight, it is our opinion that it is unnecessary to examine in detail such cases before puberty. Low SHBG levels in the PP group and high leptin levels in FCVRF+ subgroup might suggest that these may be predictive for MS in the future.


Asunto(s)
Enfermedades Cardiovasculares , Resistencia a la Insulina , Síndrome Metabólico , Pubertad Precoz , Femenino , Humanos , Leptina , Adiponectina , Andrógenos , Peso al Nacer , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/etiología , Factor de Necrosis Tumoral alfa , Hemoglobina Glucada , Factores de Riesgo , Insulina , Resistencia a la Insulina/fisiología , Síndrome Metabólico/diagnóstico , Factores de Riesgo de Enfermedad Cardiaca , Lípidos , Glucosa , Glucemia/metabolismo
7.
J Clin Endocrinol Metab ; 106(7): e2557-e2566, 2021 06 16.
Artículo en Inglés | MEDLINE | ID: mdl-33765130

RESUMEN

CONTEXT: Central precocious puberty (CPP) may arise from central nervous system (CNS) lesions in a few affected girls. Recently, the incidence of girls with CPP has increased mostly in 6-8 year olds, in whom the necessity of magnetic resonance imaging (MRI) is debated. OBJECTIVE: To investigate the frequency, long-term outcome and potential predictors of CNS lesions in a large cohort of girls with CPP. METHODS: A multicenter cohort of 770 Turkish girls with CPP who had systematic cranial MRI between 2005 and 2017. Age at puberty onset was <6 years in 116 and 6-8 years in 654. CNS lesions were followed until final decision(6.2 ± 3.1 years). Potential predictors of CNS lesions were evaluated by univariate analyses. RESULTS: A total of 104/770 (13.5%) girls had abnormal brain MRI. Of these, 2.8% were previously known CNS lesions, 3.8% had newly detected and causally related CNS lesions, 3.1 % were possibly, related and 3.8% were incidental. Only 2 (0.25%) neoplastic lesions (1 low grade glioma and 1 meningioma) were identified; neither required intervention over follow-up of 6 and 3.5 years respectively. Age at breast development <6 years (odds ratio [OR] 2.38; 95% CI 1.08-5.21) and the peak luteinizing hormone/follicle-stimulating hormone (LH/FSH) ratio >0.6 (OR 3.13; 95% CI 1.02-9.68) were significantly associated with CNS lesions. However, both patients with neoplastic lesions were >6 years old. CONCLUSION: Although age and LH/FSH ratio are significant predictors of CNS lesions, their predictive power is weak. Thus, systematic MRI seems to be the most efficient current approach to avoid missing an occult CNS lesion in girls with CPP, despite the low likelihood of finding a lesion requiring intervention.


Asunto(s)
Encéfalo/diagnóstico por imagen , Neoplasias del Sistema Nervioso Central/diagnóstico por imagen , Imagen por Resonancia Magnética , Pubertad Precoz/diagnóstico por imagen , Cuidados Posteriores , Neoplasias del Sistema Nervioso Central/complicaciones , Niño , Preescolar , Femenino , Humanos , Valor Predictivo de las Pruebas , Pubertad Precoz/etiología
8.
Beyoglu Eye J ; 5(3): 174-177, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-35098084

RESUMEN

OBJECTIVES: This study is an analysis of the subfoveal choroidal thickness (SFCT) and ganglion cell complex (GCC) in children who have type 1 diabetes mellitus (T1D) without diabetic retinopathy. METHODS: In all, 36 right eyes of 36 patients with T1D and 36 right eyes of sex- and age-matched healthy subjects were included in this prospective study. SFCT and GCC measurements were obtained using spectral domain optical coherence tomography (SD-OCT). Correlations between SCFT, GCC and duration of T1D, glycated hemoglobin, and age were also investigated. RESULTS: The mean SFCT was 342.1±42.3 µm in the T1D group and 354±70.8 µm in the control group (p>0.05). There was no significant difference between the groups in the GCC superior and inferior retina values. The average GCC was thinner in the T1D group (T1D group: 88.11±14.93 µm, control group: 103.39±15.65 µm; p=0.005). The mean central retinal thickness (CRT) was decreased in the T1D group (T1D group: 248.1±16.5 µm, control group: 262.1±18.3 µm; p=0.021). CONCLUSION: The mean SFCT was not significantly different in diabetic children compared with healthy eyes. The CRT and average GCC thickness were lower in children with T1D. SD-OCT can reveal neurodegenerative changes that may occur before vascular changes in diabetic children.

9.
Turk J Pediatr ; 62(3): 468-473, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32558421

RESUMEN

BACKGROUND AND OBJECTIVES: To compare the corneal endothelial morphology and anterior segment parameters in type 1 diabetes mellitus children (T1DM) and healthy controls. METHODS: This cross-sectional prospective study included 56 patients with T1DM and 50 eyes of 50 age-matched controls. Endothelial morphology was analyzed with EM-3000 specular microscopy, and anterior parameters were analyzed with Sirius Scheimpflug topography. Endothelial cell density (ECD), coefficient of variation (CV) of cell area, central corneal thickness (CCT), anterior chamber depth (ACD), iridocorneal angle (ICA), K1 and K2, pupillary diameter (PD), horizontal visible iris diameter (HVID), duration of T1DM, and HbA1c levels were noted. RESULTS: The mean age of the T1DM group was 14.3 ± 3.2 years, compared to 13.2 ± 3.7 years in the healthy group (p = 0.140). The mean duration of diabetes mellitus was 4.5 ± 3.5 years. The mean HbA1c was 9.5 ± 1.9% (minimum 6%, maximum 14%). The mean values of CCT were 556 ± 30 µm and 536 ± 36 µm in T1DM and healthy groups, respectively (p = 0.003). The mean values of ACD were 3.69 ± 0.31 mm and 3.83 ± 0.27 mm in T1DM and healthy groups, respectively (p = 0.02). The mean values of PD were 4.29 ± 1.2 mm and 5.17 ± 1.36 mm in T1DM and healthy groups, respectively (p = 0.001). There was no statistically significant difference between groups in terms of ECD, CV, ICA, K1, K2, and HVID (p > 0.05). CONCLUSION: Type 1 diabetes mellitus children have thicker corneas, shallower anterior chamber depth, and smaller pupillary diameter than healthy subjects.


Asunto(s)
Diabetes Mellitus Tipo 1 , Adolescente , Niño , Córnea/diagnóstico por imagen , Estudios Transversales , Humanos , Estudios Prospectivos
10.
Turk Pediatri Ars ; 52(2): 85-91, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28747839

RESUMEN

AIM: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. MATERIAL AND METHODS: Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. RESULTS: The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. CONCLUSIONS: Transient primary congenital hypothyroidism is more frequent than expected and found often in males in the primary congenital hypothyroidism cases, started thyroxin therapy in neonatal period. While fT4, thyroid-stimulating hormone, Tg levels at diagnosis do not predict transient/permenant primary congenital hypothyroidism, thyroxin dose before the therapy cessation at the age of 3 may make the distinction between transient/permenant primary congenital hypothyroidism.

11.
J Pediatr Adolesc Gynecol ; 30(4): 449-455, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28167139

RESUMEN

STUDY OBJECTIVE: To investigate the characteristics of children with ovarian cysts and evaluate treatment strategies. DESIGN: Retrospective study. SETTING: Eight pediatric endocrinology clinics, Turkey. PARTICIPANTS: A total of 100 children and adolescents with ovarian cysts. INTERVENTIONS: Patient data collected via retrospective chart review. Patients were stratified according to age into 4 groups (newborns, 1-12 months, 1-8 years, and 8-18 years). MAIN OUTCOME MEASURES: Special emphasis was given to torsion and tumor cases, concomitant diseases, treatment modalities, and problems during follow-up. RESULTS: Most newborns and infants were asymptomatic with the cysts being discovered incidentally; in girls ages 1-8, symptoms were common, including breast budding (47.1%, 16 of 34) and vaginal bleeding (29.4%, 10 of 34). Girls older than 8 years mostly presented with abdominal pain (31.6%, 12 of 38) and menstrual irregularity (21.1%, 8 of 38). Most of our patients were diagnosed with a simple ovarian cyst, but 9 patients were found to have ovarian tumors. Ovarian torsion was detected in 7 patients; 5 with large and 2 with small cysts (<20 mm). Two patients had central precocious puberty (CPP) at presentation and 5 patients developed CPP during follow-up. The surgical intervention rate was high (38%, 38 of 100), but was associated with earlier treatment year, and this association remained significant after adjusting for confounders (P = .035). CONCLUSION: Most girls have simple cysts, which have a favorable prognosis without intervention; however, there might be coexisting pathologies or complications such as tumors, torsion, and CPP; hence these patients should be evaluated accordingly and treated with a multidisciplinary approach.


Asunto(s)
Quistes Ováricos/diagnóstico , Neoplasias Ováricas/diagnóstico , Pubertad Precoz/etiología , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Quistes Ováricos/complicaciones , Quistes Ováricos/terapia , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/terapia , Pubertad Precoz/terapia , Estudios Retrospectivos , Resultado del Tratamiento , Turquía
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