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1.
Turk Arch Pediatr ; 59(2): 205-213, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38454231

RESUMO

OBJECTIVE: The increase in the prevalence of obesity, nonalcoholic fatty liver disease (NAFLD), and related comorbidities in children creates a social and financial burden. In our study, we aimed to evaluate liver findings together with anthropometric and laboratory data with twodimensional shear wave elastography (2D-SWE), one of the SWE types, which is a noninvasive method for assessing tissue stiffness in children with obesity, and to obtain quantitative data that can be used in early diagnosis and follow-up. MATERIALS AND METHODS: In our single-center, observational cross-sectional study, liver gray scale findings, 2D-SWE findings, anthropometric measurements, and laboratory values of 48 children with obesity and 50 healthy children aged between 5 and 18 years, both between groups and in prepubertal and pubertal subgroups, are compared. RESULTS: A significant difference was found in the liver stiffness indicator kilopascal (kPA) values and between aspartate aminotransferase values in the prepubertal period and alanine aminotransferase values in the pubertal period (P < .001). No significant difference was found between insulin, HOMA-IR, waist circumference, waist/height ratio, and kPA. CONCLUSION: Two-dimensional shear wave elastography can be easily applied in the pediatric population as a practical, noninvasive, reproducible, and highly compatible technique. In this regard, 2D-SWE may be useful in the early diagnosis and follow-up of hepatosteatosis and fibrosis in children with obesity and NAFLD-risky cases.

2.
J Pediatr Endocrinol Metab ; 36(8): 740-748, 2023 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-37272067

RESUMO

OBJECTIVES: Central precocious puberty (CPP) is one of the common reasons for referral to pediatric endocrinology. Magnetic resonance imaging (MRI) is used to rule out intracranial pathologies. However, there is insufficient information in the literature about bone marrow abnormalities on MRI in CPP cases. The aim of this study was to evaluate the apparent diffusion coefficient (ADC) values obtained from bone marrow diffusion weight images (DWI) of cranial bone structures and the status of sphenooccipital synchondrosis (SOS) in CPP. METHODS: MRI data from 6-to 9-year-old girls with CPP and a healthy control group were evaluated. Anthropometric data, FSH, LH, and oestradiol tests were recorded, and the relationship between SOS status, DWI-ADC values of the clivus, parietal bone, and occipital protuberance were compared. RESULTS: The study included 146 girls, 79 CPP, and 67 healthy aged 6-9 years (median: 8 (2)). The diagnosis age was 8.30 ± 0.8 years. The ADC values were significantly lower on CPP than normal controls (p=<0.05). In the CPP group, pattern 1 was found at 2 % (n=2), pattern 2 at 3.5 % (n=3), and pattern 3 at 3.5 % (n=3) in clivus sphenooccipital synchondrosis. There was no correlation between the mean parietal, occipital, and clivus ADC values and any variable (p>0.05). CONCLUSIONS: DWI-MRI ADC analysis can be used as a quantitative radiological marker for early detection of CPP, even before changes in sphenooccipital synchondrosis.


Assuntos
Puberdade Precoce , Feminino , Humanos , Criança , Puberdade Precoce/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética , Crânio , Medula Óssea
3.
J Pediatr Endocrinol Metab ; 36(4): 393-400, 2023 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-36883760

RESUMO

OBJECTIVES: The aim of study was to evaluate the 2D shear wave sonoelastography (SWE) findings of the thyroid gland in children with type 1 diabetes mellitus (T1DM) with normal gray-scale findings and without thyroid autoimmunity (AIT) and obtain data that will be useful for the early detection of glandular involvement. METHODS: The study included 46 T1DM patients (mean age: 11.28 ± 3.3 years) and 46 healthy children (mean age: 12.01 ± 3.8 years) as the control group. The thyroid gland mean elasticity value was obtained as kPa and compared in groups. A correlation was investigated between elasticity values and age at diabetes, serum free T4, thyroid stimulating hormone (TSH), anti-thyroglobulin, anti-tissue peroxidase, and hemoglobin A1c values. RESULTS: No difference was found between T1DM patients and the control group in the thyroid 2D SWE evaluation (the median kPa value: 17.1 (10.2) in the study group and 16.8 (7.0) in the control group) (p=0.15). No significant correlation was found between 2D SWE kPa values and age at diagnosis, serum free T4, TSH, anti-thyroglobulin, anti-tissue peroxidase, and hemoglobin A1c levels in T1DM patients. CONCLUSIONS: Our study showed that the elasticity of the thyroid gland in T1DM patients without AIT was not affected differently from that of the normal population. If 2D SWE is used in routine follow-up in T1DM patients before the development of AIT, we think that it will be useful in the early detection of thyroid gland affections and AIT, and long-term comprehensive studies in this direction will contribute to the literature.


Assuntos
Diabetes Mellitus Tipo 1 , Técnicas de Imagem por Elasticidade , Doença de Hashimoto , Tireoidite Autoimune , Humanos , Criança , Adolescente , Tireoidite Autoimune/diagnóstico por imagem , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico por imagem , Hemoglobinas Glicadas , Tireotropina , Peroxidases
4.
Neurol Res ; 45(3): 226-233, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36731496

RESUMO

OBJECTIVE: The concept of 'developmental and epileptic encephalopathy (DEE)' recognises that in infants presenting with severe early-onset epilepsy, neurodevelopmental comorbidity may be attributable to both the underlying cause and to adverse effects of uncontrolled epileptic activity. There is no direct genotype - phenotype correlation in DEEs. This study aimed to report the genetic and phenotypic differences in patients with DEE. METHODS: Genetic evaluations of the patients were performed due to epilepsy combined with developmental delay, epileptic encephalopathy, motor deficits, autistic features, or cognitive impairment. Patients were assessed for demographic characteristics, medical history, family history, psychomotor development, seizure control interventions, electroencephalogram (EEG) and magnetic resonance imaging (MRI) findings. RESULTS: This study included 20 children aged 0-16 years who were diagnosed as having DEE.The types of DEE detected in our study were DEE 2, 4, 6B, 7, 11, 26, 30, 33, 35, 42, 58, 62, and 67.Status epilepticus was recorded in only DEE7. The most common EEG abnormality was multifocal epileptic discharges (35%,) followed by burst-suppression patterns in patients with neonatal-onset seizures. Thirteen of the children were aged over 2 years, two (15%) were non-ambulatory and six (46%) were non-verbal. MRI scans were normal in 80% of the patients. Refractory epilepsy seen in 33% of cases.De-novo mutation, microcephaly and dysmorphic findings accompany resistant seizures and are associated with poor prognosis. DISCUSSION: For patients with movement disorders, developmental delay, autism, and ID with or without epilepsy in any period of their life, next-generation sequencing is the only diagnostic technique available, with genetic analysis often being the only diagnostic method.


Assuntos
Epilepsia , Humanos , Epilepsia/patologia , Mutação/genética , Convulsões , Eletroencefalografia/métodos , Imageamento por Ressonância Magnética , Fenótipo
5.
J Pediatr Endocrinol Metab ; 36(4): 424-429, 2023 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-36607840

RESUMO

OBJECTIVES: Lathosterolosis is a rare autosomal recessive congenital disease that occurs due to homozygous or compound heterozygous mutations in the sterol C5-desaturase (SC5D) gene. We report a male patient with biallelic missense variant detected in the SC5D gene. CASE PRESENTATION: An eight-month-old male patient was referred to the department of paediatric neurology for status epilepticus. He had no remarkable dysmorphic features except micrognathia, ptotic ear and thin-stranded hair. Laboratory tests revealed an alanine aminotransferase level of 502 IU/L and an aspartate aminotransferase level of 279 IU/L; other biochemical test results were normal. The brain MRI revealed atrophic changes in both hemispheres. A decrease in the volume of brain stem and thin corpus callosum were noticeable. Whole exome sequencing was performed because of consanguineous marriage and sibling death in his medical history, and the encountered features were consistent with suspected neurometabolic disease in the cranial imaging and the presence of borderline psychomotor retardation. A biallelic missense variant, c.656T>C p.(Leu219Ser), was identified in the SC5D gene. CONCLUSIONS: Lathosterolosis is a rare cholesterol metabolism disorder and can be presented with a wide range of clinical features by newly reported cases. Lathosterolosis should be considered in cases with cataracts, delayed neuromotor developmental milestones and high levels of liver enzymes.


Assuntos
Oxirredutases atuantes sobre Doadores de Grupo CH-CH , Erros Inatos do Metabolismo de Esteroides , Criança , Humanos , Masculino , Lactente , Oxirredutases atuantes sobre Doadores de Grupo CH-CH/genética , Mutação de Sentido Incorreto , Mutação , Colesterol
6.
Eur J Ophthalmol ; 33(3): 1331-1339, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36544297

RESUMO

PURPOSE: To evaluate central macular thickness, retinal nerve fibre layer thickness, corneal endothelial cell density and central corneal thickness in children with Type 1 Diabetes Mellitus (DM). METHODS: Thirty children with Type 1 DM and 30 age-matched children as controls were examined. Central macular thickness (CMT) and four quadrants of retinal nerve fibre layer thickness (RNFLT) were measured by optical coherence tomography (OCT), while endothelial cell density (ECD), coefficient of variation in cell size (CV), hexagonality (HEX) and central corneal thickness (CCT) were measured by noncontact specular microscopy. RESULTS: The mean ECD was 2810.77 ± 273.47 cells/mm2 and the mean hexagonality ratio was 49.77 ± 13.2 both were significantly lower (p < 0.001, p = 0.037 respectively) in the diabetic group compared to the control group. The mean CV was 37.6 ± 7.27, it was significantly higher (p = 0.024) in the diabetic group than the control group. The mean corneal thickness was greater in the DM group than the controls, but the difference was not significant (p = 0.176). There were no significant differences in CMT or RNFLT between the two groups. There was a negative correlation between the HbA1c levels and the thickness of the superior quadrants of RNFL (r = -0.406, p = 0.026). The duration of diabetes had no significant correlations with the corneal and retinal parameters. CONCLUSION: The diabetic children had changes in corneal endothelial morphology and there was a negative correlation between HbA1c levels and superior quadrant of RNFLT.


Assuntos
Diabetes Mellitus Tipo 1 , Humanos , Criança , Diabetes Mellitus Tipo 1/complicações , Tomografia de Coerência Óptica/métodos , Hemoglobinas Glicadas , Córnea , Endotélio Corneano , Contagem de Células , Células Endoteliais
7.
J Pediatr Endocrinol Metab ; 36(1): 58-63, 2023 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-36327158

RESUMO

OBJECTIVES: Studies which report cystatin C's (Cys-C) role in immunological disorders are increasing. However, data in the pediatric age group is limited. In this study, we aimed to evaluate the association between serum Cys-C levels and thyroid autoantibodies in children and adolescents diagnosed with euthyroid Hashimoto's thyroiditis. METHODS: The patient group was included 50 participants aged between 3 and 18 years, and the control group included 50 healthy children matched for age, gender, and body mass index. Patients with hypothyroidism or taking any medication were not included in the study. Fasting glucose, liver enzymes, urea, creatinine, lipid profile, Cys-C, free thyroxine (fT4), free triiodothyronine (fT3), thyroid-stimulating hormone (TSH), thyroid peroxidase antibody (TPOAb), and thyroglobulin antibodies (TGAb) levels were recorded in all subjects. RESULTS: The mean age of control group was 13.5 ± 2.5 years, and the mean age of Hashimoto thyroiditis (HT) group was 14.2 ± 2.7 years, no statistically significant differences existed (p=0.205). Cys-C values were significantly higher in the HT group than in the control group (p=0.041). When all cases were evaluated, Cys-C levels were statistically positively correlated with fT3, TPOAb, and TGAb values (p<0.001, p=0.029, p=0.013 respectively). CONCLUSIONS: Based on the results of our study, Cys-C levels in children and adolescents with euthyroid Hashimoto thyroiditis were statistically higher than their healthy peers. In conclusion, it can be said that Cys-C may be a factor in the etiopathogenesis of autoimmune thyroiditis, and even small changes in TSH values affect Cys-C levels.


Assuntos
Doença de Hashimoto , Hipotireoidismo , Tireoidite Autoimune , Adolescente , Humanos , Criança , Pré-Escolar , Cistatina C/uso terapêutico , Autoanticorpos , Tireotropina
8.
Artigo em Inglês | MEDLINE | ID: mdl-36416459

RESUMO

Microcephaly, Epilepsy, and Diabetes Syndrome 1 (MEDS1) is a rare autosomal recessive disorder and caused by defects in the IER3IP1 (Immediate Early Response 3 Interacting Protein 1) gene. Only 9 cases have been described in the literature. MEDS1 manifests as microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes. A simplified gyral pattern has been described in all cases reported to the date. Diagnosis is made by demonstration of specific mutations in the IER3IP1 gene. In this study, we present an additional case of a patient with MEDS1 who is homozygous for the c.53C >T p.(Ala18Val) variant. The case, the first to be reported from Turkey, differs from other cases due to the absence of a typical simplified gyral pattern on early brain MRI, the late onset of diabetes, and the presence of a new genetic variant. The triad of microcephaly, generalized seizures and permanent neonatal diabetes should prompt screening for mutations in IER3IP1.

9.
J Infect Dev Ctries ; 16(11): 1757-1761, 2022 11 29.
Artigo em Inglês | MEDLINE | ID: mdl-36449648

RESUMO

INTRODUCTION: The aim of this study was to evaluate the demographic and clinical characteristics and treatment outcomes of children with Salmonella gastroenteritis. METHODOLOGY: We retrospectively reviewed the medical records of pediatric patients aged between 1 month and 18 years with the diagnosis of Salmonella gastroenteritis between May 2015 and December 2021. RESULTS: A total of 172 children diagnosed with Salmonella gastroenteritis, including 113 outpatients and 59 hospitalized children, were included in this study. There were 95 (55.2%) males and 77 (44.8%) females with a median age of 59.5 months (interquartile range [IQR]: 33.5-96 months, min-max: 1-205 months). The most common clinical symptoms were diarrhea (n = 166, 96.5%), fever (n = 113, 65.7%) and abdominal pain (n = 73, 42.4%). Bloody diarrhea was seen in 19.2% of patients. Fifty (29.1%) of the Salmonella species could not be typed. Serogroup D (n = 106, 61.6%) was the predominant serogroup isolated from stool cultures, followed by serogroup B (n = 16, 9.3%). 62.2% of the isolates were susceptible to ampicillin, 97.7% to ciprofloxacin, 98.8% to trimethoprim-sulfamethoxazole, and 98.8% to ceftriaxone. Fever, vomiting, and underlying disease occurred more frequently in hospitalized patients than in outpatients (p: 0.005, p: 0.000, p: 0.000, respectively). C-reactive protein value was found to be higher in hospitalized patients (p: 0.000). CONCLUSIONS: Salmonella should be considered as a causative agent in pediatric patients with abdominal pain, fever, and bloody-mucous diarrhea, and patients with severe clinical conditions should be hospitalized and antibiotic therapy initiated if indicated.


Assuntos
Gastroenterite , Intoxicação Alimentar por Salmonella , Feminino , Masculino , Humanos , Criança , Lactente , Pré-Escolar , Turquia/epidemiologia , Estudos Retrospectivos , Diarreia/epidemiologia , Febre , Dor Abdominal/epidemiologia , Gastroenterite/tratamento farmacológico , Gastroenterite/epidemiologia
10.
J Trop Pediatr ; 68(4)2022 06 06.
Artigo em Inglês | MEDLINE | ID: mdl-35920158

RESUMO

OBJECTIVE: The studies evaluating cases with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) in the adult population reported hyperreactive platelets and increased activation of prothrombotic factors, resulting in an increased risk of thrombosis. The aim of this study was to evaluate the effects of poor glycemic control and the duration of diabetes on platelet parameters in pediatric population. METHODS: The study included 366 children, out of which 144 (39.3%) were included in the T1DM group and 222 (60.6%) in the healthy control group. The platelet count, mean platelet volume (MPV), platelet distribution width and plateletcrit values were recorded. The children with T1DM were divided into three groups as per their glycated hemoglobin (HbA1c) levels, good (<7.5%), moderate (7.5-9%) and poor metabolic control (>9%). RESULTS: No significant difference in the MPV level between the T1DM (7.41 ± 1.49 fl) and control (7.15 ± 1.23 fl) groups was observed. However, the MPV levels were significantly higher in the poor glycemic control group than in the healthy control group (p = 0.026). Furthermore, as the duration of diabetes and HbA1c levels increased, the MPV levels also increased (p < 0.001, p = 0.441). CONCLUSION: This study suggested as the duration of diabetes and HbA1c levels increased, the MPV levels also increases. Evaluation of hematological parameters can be a cheap and useful method in the evaluation of diabetes regulation in patients with diabetes.


Assuntos
Diabetes Mellitus Tipo 1 , Controle Glicêmico , Volume Plaquetário Médio , Ativação Plaquetária , Criança , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hemoglobinas Glicadas , Humanos
11.
J Pediatr Endocrinol Metab ; 35(8): 1051-1058, 2022 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-35822708

RESUMO

OBJECTIVES: We aimed to evaluate the association between vitamin B12, folate, homocysteine levels, and carotid intima-media thickness (CIMT) among children with obesity in whom vitamin deficiencies are more frequent. METHODS: Herein, 100 children with obesity (58 girls) were included (age, 5-18 years). Height, weight, body mass index (BMI), waist circumference (WC), puberty stage, blood pressure, and biochemical values were collected from medical records; standard deviations (SDS) and percentiles were calculated. Obesity was defined as BMI SDS of >+2SDS. Vitamin B12 and folate levels of <300 pg/mL and <4.8 ng/mL, respectively, were considered deficient. A radiologist quantified measurements from the carotid artery. RESULTS: Mean patient age was 12.52 ± 3.63 years. The mean weight SDS, BMI SDS, and WC/height were +3.37 ± 0.93, +2.93 ± 0.55, and 0.65 ± 0.05, respectively. In pubertal cases, insulin (p<0.001), the homeostatic model assessment for insulin resistance (HOMA-IR) (p=0.001) and homocysteine (p=0.002) levels were higher; vitamin B12 (p<0.001) and folate (p<0.001) levels were lower than those in prepubertal ones. WC and HOMA-IR correlated with CIMT; however, homocysteine levels were not correlated with CIMT. CONCLUSIONS: In our study, pubertal cases had lower vitamin B12 and folate levels as well as higher homocysteine levels. Although no correlation was identified between homocysteine levels and CIMT, this condition may be related to our study group comprising children, who had a shorter duration of obesity than those in adults. As CIMT was higher in children/adolescents with increased WC, it is proposed that they need central obesity more frequently and carefully follow-up.


Assuntos
Espessura Intima-Media Carotídea , Resistência à Insulina , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Feminino , Ácido Fólico , Homocisteína , Humanos , Resistência à Insulina/fisiologia , Obesidade/complicações , Fatores de Risco , Vitamina B 12
12.
J Clin Endocrinol Metab ; 107(5): e1924-e1931, 2022 04 19.
Artigo em Inglês | MEDLINE | ID: mdl-35028661

RESUMO

CONTEXT: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology. OBJECTIVE: This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. METHODS: Pediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targeted-gene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. This study comprised 18 pediatric endocrinology clinics with 41 patients (17 girls, median age: 3 mo, range: 0-8 y) with non-CAH PAI of unknown etiology. RESULTS: A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to a healthy control group, patients showed lower steroid concentrations, most statistically significantly in cortisone, cortisol, and corticosterone (P < .0001, area under the receiver operating characteristic curve: .96, .88, and .87, respectively). Plasma cortisol of less than 4 ng/mL, cortisone of less than 11 ng/mL, and corticosterone of less than 0.11 ng/mL had a greater than 95% specificity to ensure the diagnosis of non-CAH PAI of unknown etiology. CONCLUSION: Steroid hormone profiles are highly sensitive for the diagnosis of non-CAH PAI of unknown etiology, but they are unlikely to point to a specific molecular diagnosis. TPS is an optimal approach in the molecular diagnosis of these patients with high efficacy, whereas little additional benefit is expected from WES.


Assuntos
Doença de Addison , Hiperplasia Suprarrenal Congênita , Cortisona , Doença de Addison/diagnóstico , Doença de Addison/genética , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Criança , Pré-Escolar , Corticosterona , Feminino , Humanos , Hidrocortisona , Masculino , Patologia Molecular , Esteroides
13.
J Infect Dev Ctries ; 15(6): 761-765, 2021 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-34242183

RESUMO

INTRODUCTION: The aim of this study is to determine the coinfections with other respiratory pathogens in SARS-CoV-2 infected children patients in a pediatric unit in Istanbul. METHODOLOGY: This retrospective descriptive study was conducted in a 1000-bedded tertiary education and research hospital in Istanbul. All children hospitalized with the diagnosis of SARS-CoV-2 infection had been investigated for respiratory agents in nasopharyngeal secretions. Laboratory confirmation of SARS-CoV-2 and the other respiratory pathogens were performed using reverse transcriptase-polymerase chain reaction (RT-PCR). RESULTS: A total of 209 hospitalized children with suspected SARS-CoV-2 infection between March 2020-May 2020 were enrolled in this study. Among 209 children, 93 (44.5%) were RT-PCR positive for SARS-CoV-2 infection, and 116 (55.5%) were RT-PCR negative. The most common clinical symptoms in all children with SARS-CoV-2 infection were fever (68.8%) and cough (57.0%). The other clinical symptoms in decreasing rates were headache (10.8%), myalgia (5.4%), sore throat (3.2%), shortness of breath (3.2%), diarrhea (2.2%) and abdominal pain in one child. In 7 (7.5%) patients with SARS-CoV-2 infection, coinfection was detected. Two were with rhinovirus/enterovirus, two were with Coronavirus NL63, one was with adenovirus, and one was with Mycoplasma pneumoniae. In one patient, two additional respiratory agents (rhinovirus/enterovirus and adenovirus) were detected. There was a significantly longer hospital stay in patients with coinfection (p = 0.028). CONCLUSIONS: Although the coinfection rate was low in SARS-CoV-2 infected patients in our study, we found coinfection as a risk factor for length of hospital stay in the coinfected patient group.


Assuntos
COVID-19/microbiologia , COVID-19/virologia , Coinfecção/microbiologia , Coinfecção/virologia , Vírus/genética , Adenoviridae/genética , Adolescente , COVID-19/diagnóstico , Criança , Pré-Escolar , Coinfecção/diagnóstico , Coinfecção/epidemiologia , Hospitalização/estatística & dados numéricos , Humanos , Tempo de Internação/estatística & dados numéricos , Mycoplasma pneumoniae/genética , Mycoplasma pneumoniae/isolamento & purificação , Nasofaringe/microbiologia , Nasofaringe/virologia , Pesquisa Qualitativa , Sistema Respiratório/microbiologia , Sistema Respiratório/virologia , Estudos Retrospectivos , SARS-CoV-2/genética , Centros de Atenção Terciária/estatística & dados numéricos , Turquia/epidemiologia , Vírus/classificação , Vírus/isolamento & purificação
14.
J Clin Res Pediatr Endocrinol ; 13(4): 433-438, 2021 11 25.
Artigo em Inglês | MEDLINE | ID: mdl-34250910

RESUMO

Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20% of cases were diagnosed with HNF1A-MODY.


Assuntos
Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Adolescente , Idade de Início , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Linhagem , Turquia
15.
Clin Pediatr Endocrinol ; 30(1): 41-47, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33446951

RESUMO

The present study aimed to evaluate choroidal changes and alternations within the structure of the retina prior to visible morphologic signs of diabetic retinopathy (DR) in pediatric type 1 diabetes (T1D) cases. Two hundred and six eyes of 103 pediatric patients with T1D without DR and 88 eyes of 44 healthy controls were enrolled. They underwent a comprehensive ophthalmic examination and optical coherence tomography evaluation. Choroidal thickness (ChT) measurements were performed manually on macular and peripapillary regions. There was no significant difference between the two groups in terms of age, intraocular pressure, and axial length (p > 0.05). ChT measurements of subfoveal, nasal, and temporal macula were slightly thinner in the diabetic group, and no statistical significance was found (p = 0.835, p = 0.305, and p = 0.054, respectively). Peripapillary ChT of eight sectors were also thinner in T1D; however, superonasal, nasal, inferonasal, and inferior sector values were significantly different (p = 0.010, p = 0.020, p = 0.019, and p = 0.018, respectively). In conclusion; this study demonstrated evidence of peripapillary choroidal thinning in pediatric diabetic patients without visible signs of retinopathy.

16.
J Clin Res Pediatr Endocrinol ; 13(1): 80-87, 2021 02 26.
Artigo em Inglês | MEDLINE | ID: mdl-32820876

RESUMO

Objective: Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center Methods: A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated. Results: The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had KCNJ11 mutations, six had ABCC8 mutations, three had EIF2AK3 mutations, and one had a de novo INS mutation. All the permanent NDM patients with KCNJ11 and ABCC8 mutations were started on sulfonylurea treatment resulting in a significant increase in C-peptide level, better glycemic control, and discontinuation of insulin. Conclusion: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients.


Assuntos
Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/genética , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Síndrome
17.
J Pediatr Hematol Oncol ; 41(7): 519-524, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31259821

RESUMO

The aim of this study was to evaluate the clinical characteristics, risk factors, treatment, and outcomes of pediatric stroke cases. A total of 118 patients diagnosed with arterial ischemic stroke (AIS), hemorrhagic stroke, and sinovenous thrombosis (SVT) between January 2000 and December 2011 were included. Neonatal cases were excluded. Demographic and clinical findings were retrospectively examined from medical records. We identified 118 patients with stroke. The age of the patients ranged from 1 to 215 months (17.92 y), with a mean age of 5.19±5.25 years. AIS accounted for the majority of cases (n=69, 58.5%), and the major etiology was cardiac disease (17%). Hemorrhagic stroke accounted for 19.5% (n=23) of the cases, and late hemorrhagic disease of the newborn was the major etiology (43%, n=10). SVT accounted for 22% (n=26) of the cases, and the major etiology was otitis media-mastoiditis (27%, n=7). Hemiplegia and headache were the most frequent symptoms for AIS and SVT, respectively. Stroke is rare in children compared with adults; however, it is detected more frequently with better imaging techniques and increased awareness. We found that children with AIS presented more commonly with hemiplegia and children with SVT with headache and strabismus. We did not find an association between thrombophilia and stroke.


Assuntos
Acidente Vascular Cerebral , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/patologia
18.
J Clin Res Pediatr Endocrinol ; 11(2): 149-156, 2019 05 28.
Artigo em Inglês | MEDLINE | ID: mdl-30396878

RESUMO

Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6%, macroadenomas in 27%, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4%. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n=206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n=27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/mL, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3% were treated with cabergoline and 13.4% with bromocriptine. 20.1% of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised.


Assuntos
Adenoma/etiologia , Hiperprolactinemia/etiologia , Adenoma/epidemiologia , Adenoma/terapia , Adolescente , Biomarcadores/análise , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Hiperprolactinemia/epidemiologia , Hiperprolactinemia/terapia , Lactente , Masculino , Prognóstico , Estudos Retrospectivos , Inquéritos e Questionários , Turquia/epidemiologia
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