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1.
Eur J Pediatr ; 180(9): 2823-2829, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33772338

RESUMO

Thyroid nodules are less frequent in children than in adults. A higher rate of malignancy is highlighted in this group. We aimed to analyze the clinical, laboratory, and ultrasound (US) findings of children and adolescents with benign and malignant thyroid nodules. This was a retrospective review of children and adolescents evaluated at a tertiary pediatric institution between 2007 and 2019. Patients with autonomously functioning nodules, autoimmune thyroid diseases, and a history of oncohematological disorders were excluded. A total of 102 patients with 131 nodules were identified. The study population included 57 females (55.9%); the average age was 10.6 ±4 years. Thirty-five nodules (26.7%) ranging 4.5-36 mm had a fine-needle aspiration (FNA) done: 45.7% (n = 16) were benign, 11.4% (n = 4) were classified as atypia, and 8.5% (n = 3) were consistent with papillary carcinoma. Fourteen patients (13.7%) underwent surgery. Five (4.9%) were finally diagnosed with papillary thyroid cancer. Of the 6 patients with benign FNAs, all except one, which was initially reported as atypia by an earlier FNA but was later diagnosed with papillary carcinoma, had a colloid nodular goiter. Of the 3 patients with atypia FNAs, one was found to be papillary carcinoma. One hundred twenty-five benign nodules (21 based on cytology and/or histology, 104 on clinical and imaging follow-up) were diagnosed. Nodule size, microcalcifications, solid parenchyma, and pathologic lymph node alterations were associated with malignancy, but nodule growth was not.Conclusion: Diagnostic approach and management of children with thyroid nodules should be based on a stepwise evaluation including clinical, laboratory, and US findings. Of the 102 patients identified, 4.9% had thyroid carcinoma below the range described in previous literature. What is Known: • Thyroid nodules are less frequent in children than in adults but more frequently malignant. Research on factors associated with malignancy have mostly been conducted in adults; further studies in pediatric thyroid nodules are warranted. What is New: • Microcalcifications, pathologic lymph node alterations, solid parenchyma, and larger nodule size are associated with malignant nodules, but nodule growth is not always suggestive of thyroid malignancy. The incidence of thyroid malignancy in this population was below the reported worldwide incidence in children with thyroid nodules.


Assuntos
Carcinoma Papilar , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Adolescente , Adulto , Criança , Feminino , Humanos , Estudos Retrospectivos , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/diagnóstico por imagem , Ultrassonografia
2.
J Pediatr Hematol Oncol ; 38(1): e42-9, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26599986

RESUMO

The aim of this study is to determine the effects of L-asparaginase (L-ASP), corticosteroids (CSs), and antilipidemics, separately and in combination, on the lipid profiles and the liver and pancreas histology in mice. This study included 8 groups of 7 mice each. Before any drug administration, serum samples were taken from all of the mice. Then, normal saline was applied to the control group, and a medication or combination of medications was applied to the other groups. Levels of triglycerides, cholesterol (COL), and high-density lipoprotein (HDL) and low-density lipoprotein (LDL) were determined, and the livers and pancreases were evaluated histologically at the end of the study. Triglycerides increased significantly in the CS-only and the L-ASP-only groups, COL increased significantly in the CS-only group, and HDL increased significantly in the CS-only and the antilipidemic-only groups. LDL was significantly lower in the CS-only and the L-ASP-only groups. CSs and L-ASP were significantly effective in liver necrosis, L-ASP was significantly effective in liver balloon degeneration, and CS were significantly effective in pancreas vacuolization. Triglyceride measurement is recommended before/during CS and/or L-ASP treatment. Starting with an antilipidemic agent can be considered to avoid possible complications in patients with significantly high rates. Indicators of a possible liver or pancreas injury should also be considered.


Assuntos
Antineoplásicos/efeitos adversos , Hipolipemiantes/farmacologia , Lipídeos/sangue , Fígado/efeitos dos fármacos , Pancrelipase/efeitos dos fármacos , Corticosteroides/efeitos adversos , Animais , Asparaginase/efeitos adversos , Combinação de Medicamentos , Feminino , Genfibrozila/farmacologia , Masculino , Camundongos , Camundongos Endogâmicos BALB C , Modelos Animais , Prednisolona/efeitos adversos
3.
Turk J Pediatr ; 66(3): 364-368, 2024 07 11.
Artigo em Inglês | MEDLINE | ID: mdl-39024600

RESUMO

BACKGROUND: Hyperkalemia is one of the most serious electrolyte disturbances, and it can cause lethal cardiac arrhythmia. Although hyperkalemia associated with ileostomies has been reported in adults, to the best of our knowledge, it has not previously been reported in neonates. CASE: We report ileostomy‒induced hyperkalemia that persisted during the ileostomy and resolved promptly after the closure of the ileostomy in two extremely low birth weight (ELBW) infants, with birth weights of 850 g and 840 g and gestational ages of 27 weeks and 27 weeks 6 days. CONCLUSIONS: These cases highlight that disruption of intestinal integrity in ELBW infants may cause hyperkalemia. Ensuring the integrity of the gastrointestinal tract plays an important role in the treatment of electrolyte disorders such as hyperkalemia in ELBW infants with an ileostomy.


Assuntos
Hiperpotassemia , Ileostomia , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Humanos , Hiperpotassemia/etiologia , Recém-Nascido , Ileostomia/efeitos adversos , Masculino , Feminino
4.
Mol Syndromol ; 14(1): 35-43, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36777706

RESUMO

Introduction: Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects, and renal abnormalities. Some of the partial trisomy 6p cases reported in the literature included partial monosomy of another chromosome. This is often due to the fact that one of the parents is a balanced translocation carrier, thereby making it difficult to determine the genotype-phenotype relationship. Pure partial trisomy 6p cases are even rarer and may occur as a result of a marker chromosome, tandem or inverted duplication, and interchromosomal insertion. Case Presentation: In this study, we evaluated the physical characteristics and genetic data of a 2-year-old girl with developmental delay and facial dysmorphic features. Dysmorphology assessment revealed the presence of a prominent forehead, short and narrow palpebral fissures, blepharoptosis, convex nasal ridge, hemangioma on the left eyelid, high-arched palate, retromicrognathia, and low-set ears. The patient‧s G-banded karyotype was 46,XX,der(2)t(2;6)(q37.3;p22.1). Upon SNP-array analysis, aimed to determine the origin of the extra chromosomal material detected in chromosome 2 of the patient, there was a de novo 27.5-Mb duplication at 6p, arr[GRCh37] 6p25.3p22.1(204,909_27,835,272)×3, interpreted to be pathogenic. Conclusion: We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and contribute to the literature in terms of knowledge regarding genotype-phenotype correlation.

5.
Turk J Pediatr ; 64(5): 909-914, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36305441

RESUMO

BACKGROUND: Intrathyroidal ectopic thymus (IET), a benign lesion due to aberrant thymic migration during embryogenesis, is often discovered incidentally. We aimed to present the ultrasound (US) features, diagnostic methods, and follow-up of IET in children and adolescents. METHODS: We searched our database of patients with a nodular thyroid lesion detected by US, between January 2007 and December 2019. In 30/255 (11.7%), IET was diagnosed. RESULTS: The study included 30 patients (20 males/10 females), mean age 5 years (0.1-12.2, median 5.6) with 34 lesions diagnosed by US as `incidentalomas.` None of the patients had palpable nodules. On US, IET appeared as a hypoechoic lesion, with multiple punctuate internal echoes. 29/34 of lesions had well-defined margins. The most common location of IET was in the middle part (27/34) of the left lobe (19/34). The mean longest diameter at diagnosis was 6.4 mm (2.5-21, median 4.5). Sonographic follow-up was available in 25 patients with 27 lesions. The mean time of observation was 2.7 years (0.3-7.5, median 2.1). While 13/27 cases showed decreased size or regression during follow-up, the other 13 increased in size, and there was no change in size in one. Pubertal progression was associated with both increment and decrease in size of IET. Fine needle aspiration (FNA) was performed in 5 patients and surgery in one. CONCLUSIONS: IET should be considered in the differential diagnosis of pediatric thyroid nodules as a cause of FNA and/or surgery. Regular US monitoring can be used safely in the follow-up of this lesion. We present one of the largest series in the literature with long-term follow-up and description of patients` pubertal status. IET prevalence was 11.7% among children and adolescents with a nodular thyroid lesion, higher than that stated in the literature.


Assuntos
Doenças Linfáticas , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Adolescente , Masculino , Feminino , Humanos , Criança , Pré-Escolar , Nódulo da Glândula Tireoide/diagnóstico por imagem , Diagnóstico Diferencial , Timo/diagnóstico por imagem , Ultrassonografia/métodos , Estudos Retrospectivos
6.
J Clin Res Pediatr Endocrinol ; 14(3): 267-274, 2022 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-35308015

RESUMO

Objective: Diabetic ketoacidosis (DKA) - a potentially preventable complication of type 1 diabetes mellitus (T1D) - is one of the most common chronic childhood diseases, and is associated with a significant risk of morbidity and mortality. The limited use of healthcare services due to fear of Coronavirus disease-2019 (COVID-19) transmission during the pandemic has raised concerns of delays in T1D diagnosis, among other diseases. This study investigated the presenting characteristics of newly diagnosed T1D patients assessed in a single clinic during the pandemic and compares them with the pre-pandemic period. Methods: For the purpose of this study, the first year of the pandemic is referred to as the "pandemic period", and the previous three years as the "pre-pandemic period". Patient files were reviewed retrospectively, the demographic and clinical characteristics and laboratory findings of the patients were recorded, and the findings from both periods were compared. Results: The number of patients diagnosed with T1D in the pandemic period was 44, and in the pre-pandemic period 39 in 2017, 22 in 2018 and 18 in 2019. The two groups had similar age, sex, pubertal stage and anthropometric characteristics (p>0.05). Regarding the type of presentation, the frequency of DKA was significantly higher in the pandemic period (68.2%) than in the pre-pandemic period (40.5%) (p=0.006), and this difference was also observed in the comparison by years (p=0.016). The duration of symptoms (16.5±10.7 vs. 23.5±17.6 days) and the length of hospital stay (10±3.9 vs. 15.2±5.5 days) were significantly shorter in the pandemic period (p=0.032, and p<0.001, respectively). There was no difference in the frequency of severe DKA between the pandemic (46.7%) and the pre-pandemic (37.5%) periods (p>0.05). However, pH (7.17±0.16 vs. 7.26±0.14) and bicarbonate (12.8±6.3 vs. 16.6±6.3) levels were significantly lower in the pandemic period (p<0.005). Additional signs of infection on admission were less frequent in the pandemic period (9.1%) than in the pre-pandemic period (27.8%) (p=0.027). The groups did not differ in terms of hemoglobin A1c, C-peptide, concurrent thyroid autoantibodies and tissue transglutaminase antibodies (p>0.05). The rate of anti-glutamic acid decarboxylase positivity was higher in the pandemic period (73.8% vs. 39.2%) (p=0.001) while the frequency of other diabetes-associated autoantibodies was similar between the groups (p>0.05). The polymerase chain reaction test for COVID-19 was negative in six patients with a history of contact. Conclusion: There was an increased frequency and severity of DKA in children with newly diagnosed T1D in the pandemic period, and these findings justify concerns related to the diagnosis of other diseases during the pandemic. Studies to raise awareness of diabetes symptoms during the pandemic should be continued regularly to reach all segments of society. Our study provides an additional contribution to the literature in its coverage of the one-year period during the pandemic and its comparison with the previous three years.


Assuntos
COVID-19 , Diabetes Mellitus Tipo 1 , Cetoacidose Diabética , Autoanticorpos , COVID-19/diagnóstico , COVID-19/epidemiologia , Criança , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiologia , Cetoacidose Diabética/complicações , Humanos , Pandemias , Estudos Retrospectivos
7.
J Pediatr Endocrinol Metab ; 34(10): 1311-1317, 2021 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-34271601

RESUMO

OBJECTIVES: Most patients with type 1 diabetes (T1D) experience a transient phase of partial remission (PR). This study aimed to identify the demographic and clinical factors associated with PR. METHODS: This was a longitudinal retrospective cohort study of 133 children and adolescents with T1D. PR was defined by the gold standard insulin dose-adjusted hemoglobin A1c (HbA1c) (IDAA1c) of ≤9. RESULTS: Remission was observed in 77 (57.9%) patients. At diagnosis, remitters had significantly higher pH (7.3 ± 0.12 vs. 7.23 ± 0.15, p=0.003), higher C-peptide levels (0.45 ± 0.31 ng/mL vs. 0.3 ± 0.22, p=0.003), and they were significantly older (9.3 ± 3.6 years vs. 7.3 ± 4.2, p=0.008) compared with non-remitters. PR developed more frequently in patients without diabetic ketoacidosis (DKA) (p=0.026) and with disease onset after age 5 (p=0.001). Patients using multiple daily insulin regimen were more likely to experience PR than those treated with a twice daily regimen (63.9 vs. 32%, p=0.004). Only age at onset was an independent predictor of PR (OR: 1.12, 95% CI: 1-1.25; p=0.044). Remitters had lower HbA1c levels and daily insulin requirement from diagnosis until one year after diagnosis (p<0.001). PR recurred in 7 (9%) patients. The daily insulin requirement at three months was lower in remitters with PR recurrence compared to those without (0.23 ± 0.14 vs. 0.4 ± 0.17 U/kg/day, p=0.014). CONCLUSIONS: Addressing factors associated with the occurrence of PR could provide a better comprehension of metabolic control in T1D. The lack of DKA and higher C-peptide levels may influence PR, but the main factor associated with PR presence was older age at onset. PR may recur in a small proportion of patients.


Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Hemoglobinas Glicadas/efeitos dos fármacos , Insulina/administração & dosagem , Adolescente , Criança , Estudos de Coortes , Diabetes Mellitus Tipo 1/sangue , Cálculos da Dosagem de Medicamento , Feminino , Hemoglobinas Glicadas/metabolismo , Humanos , Estudos Longitudinais , Masculino , Indução de Remissão , Estudos Retrospectivos , Turquia
10.
J Clin Res Pediatr Endocrinol ; 9(2): 118-123, 2017 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-28077344

RESUMO

OBJECTIVE: This study aimed to measure the serum levels of heart-type fatty acid binding protein (H-FABP) in patients presenting with diabetic ketoacidosis (DKA) and diabetic ketosis (DK) and to determine its role in identifying early-period cardiac ischemia. METHODS: This prospective study included 35 patients diagnosed with DKA, 20 patients diagnosed with DK, and 20 control subjects. H-FABP, creatine kinase-MB (CK-MB), and troponin I levels were investigated at presentation in patients with DKA and DK and in the control group. H-FABP values were measured again after acidosis correction in the DKA patients. RESULTS: No statistically significant differences were found with respect to troponin I and CK-MB within the groups. The H-FABP values of DKA patients at presentation were found to be significantly higher than those of DK patients and the control group (p=0.015). The H-FABP value of the DKA group was also found to be significantly higher than the value at hour 36 after acidosis correction (p=0.0001). CONCLUSION: We would like to propose H-FABP as a potential marker for indicating myocardial ischemia.


Assuntos
Biomarcadores/sangue , Cetoacidose Diabética/sangue , Proteína 3 Ligante de Ácido Graxo/sangue , Isquemia Miocárdica/sangue , Adolescente , Criança , Pré-Escolar , Creatina Quinase Forma MB/sangue , Cetoacidose Diabética/diagnóstico , Cetoacidose Diabética/etiologia , Diagnóstico Precoce , Feminino , Humanos , Masculino , Isquemia Miocárdica/complicações , Isquemia Miocárdica/diagnóstico , Estudos Prospectivos , Troponina I/sangue
11.
J Pediatr Endocrinol Metab ; 28(5-6): 713-6, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25720051

RESUMO

Calcium pyrophosphate dehydrate (CPPD) crystal deposition disease (also known as chondrocalcinosis, CC) is a rare metabolic arthropathy mostly seen in elderly patients. Chondrocalcinosis may be associated with metabolic diseases such as hypomagnesemia when it occurs in young people. We report here a case with hypomagnesemia due to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) who developed CC during clinical follow-up. To our best knowledge this is the first case of a young patient with CPPD associated with FHHNC.


Assuntos
Condrocalcinose/complicações , Hipercalciúria/complicações , Nefrocalcinose/complicações , Erros Inatos do Transporte Tubular Renal/complicações , Adolescente , Condrocalcinose/diagnóstico por imagem , Humanos , Hipercalciúria/diagnóstico por imagem , Masculino , Nefrocalcinose/diagnóstico por imagem , Radiografia , Erros Inatos do Transporte Tubular Renal/diagnóstico por imagem
12.
J Pediatr Endocrinol Metab ; 28(11-12): 1383-5, 2015 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-26181046

RESUMO

Association of Kocher-Debré-Semelaigne syndrome-a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy, with rhabdomyolysis is very rare. We present a case of Kocher-Debré-Semelaigne syndrome with rhabdomyolysis secondary to Hashimoto's thyroiditis. He had muscular symptoms simulating poly/dermatomyositis, massively elevated creatine kinase (CK) levels and high creatinine levels. All of the findings reversed on treatment of hypothyroidism. The response to the therapy strongly suggested that Kocher-Debré-Semelaigne (KDS) syndrome was the underlying etiology. Serum thyroid- stimulating hormone levels should be routinely determined in all patients with muscular symptoms and/or elevation of CK and creatinine, keeping KDS syndrome in mind.


Assuntos
Hipotireoidismo Congênito/complicações , Creatinina/sangue , Doença de Hashimoto/complicações , Hipertrofia/complicações , Músculo Esquelético/patologia , Doenças Musculares/complicações , Rabdomiólise/etiologia , Adolescente , Hipotireoidismo Congênito/sangue , Creatina Quinase/sangue , Doença de Hashimoto/sangue , Doença de Hashimoto/tratamento farmacológico , Humanos , Hipertrofia/sangue , Masculino , Doenças Musculares/sangue , Rabdomiólise/sangue , Tiroxina/uso terapêutico , Resultado do Tratamento
13.
J Pediatr Endocrinol Metab ; 27(1-2): 189-91, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24057592

RESUMO

Graves' disease is the most common reason of hyperthyroidism in children. Graves' disease with accompanying functioning nodules is defined as Marine-Lenhart syndrome. This syndrome has not been described in children before. Here, a 15-year-old girl with Graves' disease and a coexisting cold nodule is presented. A thyroid scan showed diffuse uptake of Tc-99m pertechnatate in both lobes and decreased uptake in accordance with the left lobe nodule. The nodule was histologically diagnosed as benign. The patient was diagnosed with type 1 diabetes mellitus and polyglandular autoimmune syndrome during clinical follow-up. The differential diagnoses of Graves' disease with coexisting nodules should include the Marine-Lenhart syndrome. Treatment options should be determined taking this rare condition into account.


Assuntos
Doença de Graves/diagnóstico , Adolescente , Antitireóideos/uso terapêutico , Diabetes Mellitus Tipo 1/complicações , Feminino , Doença de Graves/complicações , Doença de Graves/tratamento farmacológico , Doença de Graves/radioterapia , Humanos , Radioisótopos do Iodo/uso terapêutico , Metimazol/uso terapêutico , Poliendocrinopatias Autoimunes/complicações , Síndrome
14.
J Clin Res Pediatr Endocrinol ; 6(4): 233-7, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25541894

RESUMO

OBJECTIVE: Growth charts are essential tools used to assess children's health status. The aim of the present study was to determine the effect of environmental factors on the growth of children of a common geographic background. We constructed growth charts for children living in the East of Turkey and compared them with those for Turkish children living in other regions or countries. METHODS: Growth data were obtained from 6 917 school children living in Eastern Turkey. The median values on smoothed percentile curves for the study subjects were compared with those for Turkish children living in the West of Turkey, in Western Europe and in Germany. RESULTS: Children living in Turkey were lighter than their European peers at early ages. Weight curves of children living in the West of Turkey reached those of their European peers, after 11 years of age in boys and after 12 years of age in girls. At all ages, girls and boys in our region had the lowest weight values. Between 7 and 11 years of age, the median height in boys and girls were similar in the West of Turkey and in Europe. At older ages, median height was higher in Turkey. Girls and boys living in Eastern Turkey were the shortest children until 16 years of age; after that age, their height was similar to their peers. CONCLUSIONS: Weight may interact with environmental factors, but genetic potential appears to be the most important factor determining height at 17 years of age. Growth patterns of children should be evaluated using specific reference values for specific regions.


Assuntos
Estatura/etnologia , Peso Corporal/etnologia , Desenvolvimento Infantil/fisiologia , Adolescente , Índice de Massa Corporal , Criança , Educação Infantil , Europa (Continente)/etnologia , Feminino , Gráficos de Crescimento , Humanos , Masculino , Turquia/etnologia
16.
J Pediatr Adolesc Gynecol ; 26(6): e127-9, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23870823

RESUMO

BACKGROUND: The differential diagnosis of tissue passed per vagina in a young girl includes aborted pregnancy, rhabdomyosarcoma, polyp, and very rarely decidual cast. CASE: A 10-year-old girl using oral contraceptives for menorrhagia presented with a decidual cast after discontinuing the drug. Symptoms disappeared during clinical follow-up without any intervention. CONCLUSIONS: Decidual cast formation is an unusual entity of unknown origin. It's generally seen during treatment with variable contraceptives. This is the first case described with desogestrel and it occurred after discontinuing treatment.


Assuntos
Anticoncepcionais Orais Sintéticos/efeitos adversos , Decídua/patologia , Desogestrel/efeitos adversos , Dismenorreia/induzido quimicamente , Menorragia/tratamento farmacológico , Criança , Anticoncepcionais Orais Sintéticos/uso terapêutico , Desogestrel/uso terapêutico , Diagnóstico Diferencial , Dismenorreia/diagnóstico , Feminino , Humanos
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