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/sangueRESUMO
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 TratamentoRESUMO
BACKGROUND: Ovotesticular disorders of sexual development (OT-DSD) represent a rare sex development disorder characterized by the presence of both ovarian and testicular tissues in the same or the contralateral gonad. CASE: We present the case of a 14-year-old female patient with signs of virilization at a pubertal age and with dysmorphic features, diagnosed as 46,XX OT-DSD. CONCLUSION: We want to point out that patients with 46 XX OT-DSD may present with virilization at puberty and may be accompanied by dysmorphic features.
Assuntos
Transtornos Dismórficos Corporais , Transtornos Ovotesticulares do Desenvolvimento Sexual/diagnóstico , Desenvolvimento Sexual , Virilismo , Adolescente , Feminino , Humanos , Puberdade , Maturidade SexualRESUMO
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 imagemRESUMO
In this study, lymphocyte subgroups including blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were analyzed in children with Down syndrome (DS). The study includes 85 children with DS, followed at Department of Pediatrics, Faculty of Medicine, Yüzüncü Yil University and 64 healthy age-matched control participants. Blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were examined in both the groups. Significantly decreased blood CD3, CD4, and CD19 values were found in the study group (P < .05) when compared with the control group. In conclusion, we would like to emphasize that blood CD3, CD4, and CD19 levels were found to be decreased in children with DS. Based on these finding, we think that these decreased lymphocyte subgroups might be responsible for increased susceptibility to infections in children with DS.
Assuntos
Antígenos CD/sangue , Síndrome de Down/sangue , Linfócitos/metabolismo , Antígenos CD/imunologia , Criança , Pré-Escolar , Suscetibilidade a Doenças , Síndrome de Down/imunologia , Feminino , Humanos , Lactente , Infecções/sangue , Infecções/imunologia , Linfócitos/imunologia , MasculinoRESUMO
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/etnologiaRESUMO
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 , SíndromeRESUMO
A 9-day-old male baby was hospitalized after his birth due to some swells under the skin. The hard consistency nodules observed under the skin all over the body of the patient were of different size, and presented lesions, among which the biggest was 1 × 1 cm. No lesions were observed on the fingers. By superficial ultrasonography, multiple isoechoic hypoechoic lesions were observed among the muscle plan. In thoracolumbar magnetic resonance imaging, multiple massif lesions retaining peripheral contrast (the biggest was 1.7 × 1.4 cm large) had been observed under the skin muscle plans, between the muscles of the extremities. The biopsy was positive for smooth muscle actin, but negative for desmin, S100, and CD34. These findings were diagnosed as infantile digital fibromatosis (IDF) (inclusion body fibromatosis). The case was presented with an objective to illustrate and remind that IDF can be observed in babies without finger involvement.
RESUMO
Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations.
Assuntos
Nefropatias/genética , Proteínas de Membrana/genética , Mutação , Síndrome de Wolfram/genética , Adolescente , Sequência de Aminoácidos , Criança , Pré-Escolar , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 4/metabolismo , Consanguinidade , Feminino , Células HEK293 , Homozigoto , Humanos , Nefropatias/diagnóstico , Nefropatias/patologia , Masculino , Dados de Sequência Molecular , Linhagem , Turquia/epidemiologia , Síndrome de Wolfram/diagnóstico , Síndrome de Wolfram/patologia , Adulto JovemRESUMO
Pseudotumor cerebri is idiopathic intracranial hypertension. The etiology of this syndrome has not been fully clarified. Excess cerebrospinal fluid production, scarcity of cerebrospinal fluid absorption, intracranial venous pressure elevation, increased intracranial blood volume are all thought to be responsible. The symptoms of the disease may be ordered according to prevalence as follows: headache due to increased intracranial pressure, blurred vision and diplopia. A thirteen-year-old female patient was brought in with complaints of headache, double and blurred vision. Systemic arterial hypertension (140/70 mmHg) was determined. Vesicoureteral reflux was detected as the hypertension etiology. In this article a rare pseudotumor cerebri case is presented secondary to vesicoureteral reflux which caused hypertension.
Assuntos
Pseudotumor Cerebral/etiologia , Refluxo Vesicoureteral/complicações , Adolescente , Anti-Hipertensivos/uso terapêutico , Feminino , Humanos , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/terapia , Esteroides/uso terapêutico , Resultado do Tratamento , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/terapiaRESUMO
OBJECTIVE: Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. DESIGN: Because consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inheritance and allows firmer correlations to be established between genotype and phenotype, we planned to execute our study in consanguineous families. PATIENTS: Hundred and thirty-nine children with CHNG phenotype born to consanguineous families. MEASUREMENTS: First, we investigated cases for evidence of linkage to the four known CHNG genes by microsatellite marker analysis. Mutation analysis by direct sequencing was then performed in those cases in whom linkage to the relevant candidate gene could not be excluded. In addition, in silico analysis of the predicted structural effects of TSHR mutations was performed and related to the mutation-specific disease phenotype. RESULTS: Homozygous germline TSHR mutations were detected in six families (5%), but no mutations were detected in PAX8, TSHB and NKX2-5. Four of TSHR mutations had not previously been described. Genotype-phenotype correlations were established and found to be related to the predicted structural effects of the mutations. CONCLUSIONS: Known causative genes account for the development of CHNG only in a minority of cases, and our cohort should provide a powerful resource to identify novel causative genes and to delineate the extent of locus heterogeneity in autosomal recessively inherited CHNG.
Assuntos
Hipotireoidismo Congênito/genética , Receptores da Tireotropina/genética , Consanguinidade , Análise Mutacional de DNA , Proteína Homeobox Nkx-2.5 , Proteínas de Homeodomínio/genética , Humanos , Modelos Moleculares , Mutação , Fator de Transcrição PAX8 , Fatores de Transcrição Box Pareados/genética , Paquistão/etnologia , Linhagem , Tireotropina Subunidade beta/genética , Fatores de Transcrição/genética , Turquia , Reino UnidoRESUMO
OBJECTIVE: The aim of this study was to estimate the prevalence of overweight and obesity in school children in Eastern Turkey. METHODS: This study included 9048 school children aged 6-18 years. The subjects were classified as overweight and obese, according to the International Obesity Task Force. RESULTS: We found prevalence of overweight of 11.1% in the studied population. It was detected that 2.2% of the population in the study was obese; 2.1% of males and 2.3% of females. While the prevalence of obesity was extremely low before 9 ages and after 15, it reached to high values at puberty and just before pubertal period in boys. The prevalence of overweight was higher in girls and reached to peak point at pubertal ages. Generally, the prevalence of obesity and overweight was slightly higher in girls than in boys, although the boys were more obese in prepubertal ages. CONCLUSION: Overweight and obesity are concerns for children and adolescents in low socio-economic status regions as well.
Assuntos
Obesidade/epidemiologia , Sobrepeso/epidemiologia , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Prevalência , Puberdade , Turquia/epidemiologiaRESUMO
AIM: To examine the effect of 25-OH vitamin D3 on the immune system in patients with nutritional rickets. METHODS: Fifty-three patients were included in our study between April 2002 and March 2004. Diagnosis of rickets was based on clinical, biochemical and radiological examinations. Cell surface markers (CD), complement factors (C), and immunoglobulin (Ig) levels were determined to find out any relationship between rickets and immune system deficiency. RESULTS: Among the causes of admission to hospital, fever (66%) and coughing (62.2%) were the most frequent. Pneumonia was accompanied by rickets in 47.1% of the cases. Plasma CD4 levels before the treatment were higher than those in the post-treatment period, whereas CD20 and CD56 levels were lower. CONCLUSION: B cell and natural killer cell reduction which occur because of vitamin D deficiency may contribute to the development of pneumonia and other infections in patients with nutritional rickets.
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Calcifediol/fisiologia , Sistema Imunitário/fisiologia , Fosfatase Alcalina/sangue , Antígenos CD/sangue , Calcifediol/sangue , Pré-Escolar , Feminino , Humanos , Imunoglobulinas/sangue , Lactente , Masculino , Hormônio Paratireóideo/sangue , Raquitismo/imunologiaRESUMO
Langerhans cell histiocytosis (LCH) is an uncommon clinically heterogeneous disorder characterized by the proliferation and accumulation of Langerhans cells with local infiltration of tissues and organ destruction. LCH takes many clinical forms, affecting different systems and different sites in the same system with variable outcomes. Bone, skin, lymph node, pituitary, liver, lung, bone marrow and spleen involvement can be seen in patients with LCH. Involvement of the perianal site is rare. In this article, a 16-month-old boy with multiple organ involvement including skin, liver, lung, and bone is presented. Aside from these systemic involvements, he also had a simple anal fistula. According to our best knowledge, this case of LCH with anal fistula is only the second to be reported in childhood. We would like to emphasize that LCH may be associated with anal fistula; therefore, we suggest that patients with LCH should be examined for this condition.
Assuntos
Histiocitose de Células de Langerhans/complicações , Fístula Retal/etiologia , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/patologia , Humanos , Lactente , MasculinoRESUMO
INTRODUCTION: We evaluated chest X-ray and clinical findings of patients with lower respiratory tract infection due to influenza H5N1 and presented the radiological findings and clinical course of the infection. MATERIALS AND METHODS: Between December 2005 and February 2006, eight hospitalized patients (median age 10, 5-15 years) with avian-flu were evaluated in this study. All patients were evaluated with chest X-ray and four of them with CT scan. Post mortem pathological characterization were also available for three of the patients. RESULTS: A rapidly progressive pneumonia with high mortality rate was observed especially for cases with late admission. The major radiologic abnormalities were extensive pneumonic infiltration with segmental and multifocal distribution, mostly located in lower zones of the lung. No pleural effusion and hilar lymphadenopathy was noted. CONCLUSION: Avian flu may be presented as rapidly progressive pneumonia. The chest radiography has an important role in diagnosis and should be obtained daily because of rapid change of the findings that may necessitate prompt action.
Assuntos
Virus da Influenza A Subtipo H5N1/isolamento & purificação , Influenza Humana/diagnóstico por imagem , Pneumonia Viral/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Influenza Humana/mortalidade , Influenza Humana/patologia , Pulmão/diagnóstico por imagem , Pulmão/patologia , Masculino , Pneumonia Viral/mortalidade , Pneumonia Viral/patologia , Tomografia Computadorizada por Raios XRESUMO
A retrospective study of 28 patients identified with subdural empyema (SE) at the Department of Neurosurgery between the years 1995 and 2005 was carried out. SE occurred in all patients following bacterial meningitis. The six most frequently encountered clinical features included: (1) fever in 22 (79%) patients; (2) disturbed consciousness in 16 (57%) patients; (3) papilledema in 11 (39%) patients; (4) hemiparesis in 4 (14%) patients; (5) meningismus or meningeal signs in 4 (14%) patients, and (6) seizures in 3 (11%) patients. In the majority of cases, the most frequent causative pathogen of SE was Staphylococcus aureus. Surgery was performed on all patients, which included craniotomy in a group of 20 patients and burr hole drainage in a group of 8 patients. In conclusion, we believe that infants and young children should be carefully monitored following meningitis, in case of SE development, and that surgical intervention in patients presenting with meningitis may facilitate the development of SE. Furthermore, from a surgical point of view, our experience has led us to believe that craniotomy in comparison with burr hole surgery is the best surgical modality for management of SE as the recurrence rate of SE associated with burr hole surgery is high.
Assuntos
Craniotomia , Drenagem/métodos , Empiema Subdural/cirurgia , Meningites Bacterianas/cirurgia , Antibacterianos/uso terapêutico , Pré-Escolar , Transtornos da Consciência/etiologia , Empiema Subdural/diagnóstico , Empiema Subdural/tratamento farmacológico , Empiema Subdural/microbiologia , Feminino , Febre/etiologia , Humanos , Lactente , Masculino , Meningismo/etiologia , Meningites Bacterianas/complicações , Meningites Bacterianas/tratamento farmacológico , Papiledema/etiologia , Paresia/etiologia , Recidiva , Estudos Retrospectivos , Convulsões/etiologia , Resultado do TratamentoRESUMO
Myiasis is a disease caused by fly larvae. The term "myiasis" is derived from the Greek word "myia" meaning fly. Aural myiasis is a rare clinical state and occurs frequently in children. In this article, six children with aural myiasis, caused by the fly larvae, are reported because of unusual presentation. All of the children with aural myiasis were associated with chronic otitis media. In the treatment, a combination of suctioning and alligator forceps was used to remove maggots under the light microscopic field. Additionally, antibiotics were used in all children. Thus, aural myiasis is successfully treated by direct extraction of larvae and application of preventative methods.
Assuntos
Orelha/patologia , Miíase/patologia , Animais , Criança , Pré-Escolar , Dípteros/fisiologia , Orelha/cirurgia , Feminino , Humanos , Larva/fisiologia , Masculino , Miíase/complicações , Miíase/prevenção & controle , Miíase/cirurgia , Otite Média/complicações , Sucção , Instrumentos CirúrgicosRESUMO
Noma (cancrum oris) is an infectious disease that destroys the oro-facial tissues and other neighboring structures in its fulminating course. The starting point of the disease is acute ulcero-necrotic gingivitis, which results in an extensive gangrenous plaque destroying all of the soft tissues of the face. It predominantly affects children aged 2-16 years and is primarily seen in areas where the socioeconomic standards are low and there is poor hygiene, as in developing countries. We discuss possible predisposing factors in cancrum oris such as malnutrition, infectious diseases, HIV infection, and immune compromise conditions. Poverty is the most important risk factor. We report the case of a 6-month-old child with noma and review the characteristic features of this disease.
Assuntos
Noma , Antibacterianos/uso terapêutico , Infecções Bacterianas/tratamento farmacológico , Humanos , Lactente , Masculino , Noma/diagnóstico , Noma/microbiologia , Noma/terapia , Fatores de RiscoRESUMO
A 12-year-old boy was admitted with electrical burn and loss of consciousness. On physical examination his general condition was poor. Extensive burn areas, second and third degree, were present on his face, scalp, bilateral auricles, right cervical region, shoulders, right axilla, upper region of the thorax, and proximal region of the upper extremities. The total burned surface area was about 25%. Pupils were isocoric, but response to light was bilateral poor. He was stuporous and responsive only to pain. Deep tendon reflexes were exaggerated and plantar responses were bilateral extensor. Bilateral decorticate rigidity was noted. Computerized tomography of brain revealed brain edema and right thalamic hemorrhage. Magnetic resonance imaging of brain, examined 25 days after admission, revealed right thalamic hemorrhage and mild right subdural effusion. He was discharged form hospital 40 days after admission. However, spastic quadriplegia and severe mental retardation remained as sequela. On the 4th month of follow-up, no improvement was noted in his neurological examination. On the 9th month of follow-up, his clinical condition was better, but bilateral electric cataract was diagnosed. Both eyes were operated on and intraocular lenses were implanted with good results. Now he is 16th month of follow-up: neurological examination revealed only mild hemiparesis on the left side and mild articulation disorder. His school performance was moderate and intelligence quotient was 71. Magnetic resonance imaging of brain showed markedly improvement of the hemorrhage. To our best knowledge thalamic hemorrhage resulting from high-voltage electrical injury has not previously been reported in the literature.