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A 13-year-old girl who had a kidney transplant four weeks prior presented with a 10-day history of fatigue, paleness, and headache. On physical examination, tachycardia and paleness were noted. Laboratory testing was notable for severe anemia and mild leukopenia and thrombocytopenia. Polymerase chain reaction (PCR) test for Epstein-Barr virus (EBV) and cytomegalovirus (CMV) were negative and for parvovirus B19 (PVB19) was positive. Despite lower immunosuppression and administration of intravenous immunoglobulin (IVIG) it persisted for 15 months, and frequent red blood cell transfusions were needed. PVB19 is a less common but significant complication. The patient's clinical course demonstrates the importance of this complication and the challenges in its management. A notable void exists in the literature regarding standardized treatment protocols for PVB19-induced recurrent anemia after kidney transplant. This case indicates the need for further research and consensus to guide effective clinical interventions in similar cases.
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Anemia , Transplante de Rim , Infecções por Parvoviridae , Parvovirus B19 Humano , Humanos , Transplante de Rim/efeitos adversos , Feminino , Parvovirus B19 Humano/isolamento & purificação , Adolescente , Anemia/etiologia , Anemia/terapia , Anemia/virologia , Anemia/diagnóstico , Infecções por Parvoviridae/diagnóstico , Infecções por Parvoviridae/complicações , Imunoglobulinas Intravenosas/uso terapêutico , Recidiva , Transfusão de Eritrócitos , Imunossupressores/uso terapêutico , Imunossupressores/efeitos adversosRESUMO
Acute lymphoblastic leukemias are the most common malignancies in childhood. Although its etiology is still unclear, it is thought that disorders in oxidative stress metabolism may contribute to leukemogenesis. Advanced glycation end products (AGEs) are formed as a result of the non-enzymatic binding of sugars to biomolecules. Oxidation reactions are triggered through AGE-Receptor (RAGE) interaction, resulting in the formation of reactive oxygen species. These can play crucial roles in cancer pathogenesis and leukemogenesis. It is thought that sRAGE (soluble RAGE) is the end product of glycation and circulates freely in the circulation by binding to RAGE ligands. We investigate novel leukemia biomarkers and focus on soluble RAGE (sRAGE) for acute lymphoblastic leukemia (ALL) diagnosis and prognosis. Thirty children (1-17 years) diagnosed with ALL were included in the study. Patients were divided into standard, medium, and high risk groups according to the Berlin-Frankfurt-Münster (BFM) treatment protocol. Patients were evaluated twice; at the time of diagnosis and at the sixth month of remission. sRAGE and blood parameters were compared with healthy controls (n = 30, 1-17 years). The sRAGE levels in ALL patients at diagnosis (138.7 ± 177.3 pg/mL) were found to be significantly higher than they were during the sixth month of remission (17.6 ± 21.1 pg/mL) and in healthy controls (22.2 ± 23.7 pg/mL). The cut-off value of the sRAGE level for the diagnosis of ALL was found to be 45 pg/mL in ROC analysis (sensitivity: 73.3%, specificity: 86.7%, AUC: 0.681). At the same time, the sRAGE level was found to be significantly higher in T-ALL patients (490.9 ± 236.9 pg/mL) than in B-ALL patients (84.5 ± 82.7 pg/mL). No significant difference was found in terms of the sRAGE level between standard (45.8± 33.1 pg/mL), medium (212 ± 222.1 pg/mL), and high (143.9 ± 111.5 pg/mL) risk group ALL patients classified according to the BFM protocol. Despite the fact that this was a small, single-center study, our findings highlight the potential use of sRAGE as a biomarker for diagnosing ALL and assessing response to treatment.
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Autosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting cellular responses to type I, II, and III IFNs, and IL-27, and conferring a predisposition to both viral and mycobacterial infections. We report the genetic, immunological, and clinical features of an international cohort of 32 patients from 20 kindreds: 24 patients with complete deficiency, and 8 patients with partial deficiency. Twenty-four patients suffered from mycobacterial disease (bacillus Calmette-Guérin = 13, environmental mycobacteria = 10, or both in 1 patient). Fifty-four severe viral episodes occurred in sixteen patients, mainly caused by Herpesviridae viruses. Attenuated live measles, mumps, and rubella and/or varicella zoster virus vaccines triggered severe reactions in the five patients with complete deficiency who were vaccinated. Seven patients developed features of hemophagocytic syndrome. Twenty-one patients died, and death was almost twice as likely in patients with complete STAT1 deficiency than in those with partial STAT1 deficiency. All but one of the eight survivors with AR complete deficiency underwent hematopoietic stem cell transplantation. Overall survival after hematopoietic stem cell transplantation was 64%. A diagnosis of AR STAT1 deficiency should be considered in children with mycobacterial and/or viral infectious diseases. It is important to distinguish between complete and partial forms of AR STAT1 deficiency, as their clinical outcome and management differ significantly.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Linfo-Histiocitose Hemofagocítica , Infecções por Mycobacterium , Mycobacterium bovis , Humanos , Fator de Transcrição STAT1/genética , Fator de Transcrição STAT1/metabolismoRESUMO
OBJECTIVE: This study aimed to assess the relationship between antioxidant enzymes such as glutathione peroxidase (GSH-Px), glutathione reductase (GSH-R), and paraoxonase (PON1) and carotid intima-media thickness (CIMT) and investigate susceptibility to atherosclerosis with decreasing antioxidant capacity in adolescent patients with iron deficiency (ID) and irondeficiency anemia (IDA). MATERIAL AND METHODS: Twenty-five patients with IDA (14.9±1.8 years; 14 female and 11 male patients), 25 patients with ID (14.1±2.24 years; 13 female and 12 male patients) and 21 healthy controls (14.04±2.01 years; 11 female and 10 male individuals) were included in the study. Serum PON1, GSH-Px, GSH-R, and CIMT were measured in all cases. After 3-month oral iron therapy for the group with IDA, the same measurements were performed again. RESULTS: CIMT was statistically significantly higher in patients with ID and IDA than in the control group (p<0.05). PON1, GSH-Px, and GSH-R activities decreased and were statistically significantly low in patients with IDA compared to the control group (p<0.05). Serum PON1 activity was statistically significantly lower in patients with ID than in the control group (p<0.05). Post-treatment PON1, GSH-Px, and GSH-R activities in patients with IDA got back to normal and were statistically significantly higher compared to pre-treatment values. CONCLUSIONS: Antioxidant capacity decreases in patients with IDA and ID, which causes atherosclerotic changes. Therefore, patients with iron deficiency must be treated without the development of iron-deficiency anemia.
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BACKGROUND: Zinc deficiency may exacerbate some pathologies and may also explain alterations in circulating concentrations of various molecules. Zinc has previously been reported to affect plasma concentrations of vitamin B12, homocysteine, and folate; however, the current evidence is inconclusive. We aimed to evaluate plasma zinc, hemoglobin, red blood cell count, mean corpuscular volume, ferritin, vitamin B12, folate, and homocysteine concentrations during and after zinc supplementation for treatment of zinc deficiency. METHODS: This prospective, open-label, single-arm study included children who presented to outpatient clinics with symptoms of growth retardation, anorexia or frequent infections, and who were considered deficient based on plasma zinc concentrations (<70 mcg/dl). Zinc supplementation of 15 mg per day was administered to all participants, and fasting blood samples collected 3 months later were analyzed for plasma zinc, vitamin B12, homocysteine, and folate concentrations. RESULTS: Eighty-three children (27 males and 26 females) admitted to the outpatient clinics with anorexia, growth retardation, and complaints of frequent infections. The mean age of the children was 9.64 ± 5.05 (min-max, 1-15) years, and the mean plasma zinc concentration before zinc supplementation was 61.7 ± 6.3 mcg/dl. Zinc concentrations were significantly elevated after zinc sulfate supplementation for 3 months, at 107.1 ± 18.8 mcg/dl (p < 0.01). Hemoglobin (p < 0.01), mean corpuscular volume (p < 0.01), and ferritin (p = 0.049) levels were significantly increased after zinc supplementation, but no significant difference was found in red blood cell count (p = 0.83). Vitamin B12 and homocysteine concentrations were significantly decreased after zinc treatment (743.5 ± 498.8 vs 373.3 ± 128 mcg/dl p < 0.01; and 11.2 ± 5.3 vs 6.7 ± 3.4 mcg/dl p < 0.01, respectively). However, the change in folate concentrations was not significant (p = 0.05). CONCLUSIONS: Anemia was not detected in patients with zinc deficiency, but ferritin level significantly increased after zinc treatment. Therefore, it can be said that zinc therapy has a positive effect on iron absorption. Elevations in vitamin B12 and homocysteine may be associated with zinc deficiency, and these elevations may in turn influence the prognoses of liver, kidney, cardiorespiratory, and neoplastic conditions. This can be corrected through appropriate zinc supplementation.
Assuntos
Ácido Fólico/sangue , Homocisteína/sangue , Vitamina B 12/sangue , Zinco/sangue , Adolescente , Criança , Suplementos Nutricionais , Feminino , Humanos , Masculino , Estudos Prospectivos , Zinco/administração & dosagem , Zinco/deficiênciaRESUMO
BACKGROUND: The objective of this research was to evaluate the potential clinical utility of baseline hematological parameters measured on admission as adjuncts in the identification of complicated and uncomplicated appendicitis in children. METHODS: The records of a total of 334 pediatric patients who underwent curative surgery for acute appendicitis (AA) between 2015 and 2016 were retrospectively investigated. The patients were categorized as complicated or uncomplicated appendicitis based on the histopathological reports. The clinical features and baseline hematological parameters of leukocyte count, neutrophil percentage, thrombocyte count, neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), mean platelet volume (MPV), red cell distribution width (RDW), and platelet distribution width (PDW) of the groups were compared. RESULTS: Complicated AA was determined in 36 (10.8%) patients. The white blood cell count (WBC) (p<.001), neutrophil percentage (p<.001), NLR (p<.001), and PLR (p=.004) were higher in the complicated appendicitis group compared with the uncomplicated group, while the RDW, MPV, and PDW levels were uninformative. Analysis of receiver operating characteristic curves yielded the cut-off values of 14.870 cell/mm3 for WBC (area under the curve [AUC]: 0.675; sensitivity: 86.1%; specificity: 41.6%), 10.4 for NLR (AUC: 0.717; sensitivity: 61.1%; specificity: 73.2%), and 284 for PLR (AUC: 0.647; sensitivity: 42%; specificity: 86%) were found to be the best predictive values for the determination of complicated acute appendicitis. CONCLUSION: The present study demonstrated that AA patients with higher NLR and PLR levels might be more likely to develop a complication. The NLR and PLR values combined with a physical examination, imaging studies, and other laboratory tests may help clinicians to identify high-risk AA patients in the emergency department.
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Apendicite , Contagem de Leucócitos/estatística & dados numéricos , Apendicite/diagnóstico , Apendicite/epidemiologia , Criança , Serviço Hospitalar de Emergência , Humanos , Linfócitos/citologia , Volume Plaquetário Médio/estatística & dados numéricos , Neutrófilos/citologia , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
A 6-year-old Syrian boy presented with complaints of facial dysmorphism and difficulty of walking. He had coarse face, macrocephaly, pectus carinatum, x-bain deformity, kyphosis, corneal clouding, and claw hand deformity. Galactose-6 sulphatase enzyme level was 0.1 nmol/mg.17 h (reference range, > 68 nmol/mg.17 h), compatible with Morquio syndrome. On laboratory examinations, potassium level was 2.9 mmol/L (reference range, 3.5 mmol/L to 5.1 mmol/L), sodium level was 130 mmol/L (reference range, 135 mmol/L to 148 mmol/L), and chloride level was 92 mmol/L (reference range, 101 mmol/L to 109 mmol/L). Blood pH was 7.5 and bicarbonate level was 31 mEq/L. Urine sodium and chloride levels were high. Arterial blood pressure was normal and these findings were consistent with Bartter syndrome. This is the first report of a patient with the association of Bartter syndrome and mucopolysaccharidosis type 4A, which was thought to be coincidental.
Assuntos
Síndrome de Bartter/complicações , Mucopolissacaridose IV/complicações , Síndrome de Bartter/diagnóstico , Criança , Humanos , Masculino , Mucopolissacaridose IV/diagnósticoRESUMO
OBJECTIVES: L-Thyroxine ingestion is rarely seen in children; here, we report our experience of it. This study describes the clinical characteristics and laboratory findings of acute L-thyroxine ingestion in children. METHODS: This retrospective study enrolled patients treated for L-thyroxine ingestion at Kayseri Teaching Hospital between September 2013 and September 2016. Clinical characteristics and laboratory findings are described. Ethical approval was not obtained because the study was retrospective. RESULTS: The incidence of L-thyroxine ingestion was 0.07% to 1.2% per year. There were 14 patients. Twelve patients were asymptomatic, but 2 (14.2%) exhibited tachycardia and hypertension. Thyroid hormone levels were elevated in 3 patients (21.4%). Eleven patients did not require medical treatment (78.4%); 3 did. No serious complication or death was observed. CONCLUSIONS: Acute ingestion has a benign course. Serious complications are uncommon but may appear several hours or days after ingestion; therefore, patients with L-thyroxine ingestion should be followed closely for 2 weeks.
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Tiroxina/intoxicação , Overdose de Drogas/epidemiologia , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Hipertensão/etiologia , Masculino , Taquicardia/etiologia , Hormônios Tireóideos/sangueRESUMO
BACKGROUND: Forced expiratory flow between 25% and 75% of vital capacity (FEF25-75%), a spirometric measure of small airways, may predict the presence of airway responsiveness both in asthmatics and in allergic rhinitis (AR). We aimed to search the correlation between FEF25-75% and standard measures of spirometry (forced expiratory volume in the first second [FEV1%] and FEV1/FVC [forced vital capacity]) in different clinical conditions, that is in children with asthma, in children with asthma and AR, in children with AR and in healthy children. METHODS: Children with asthma (N.=116), asthma plus AR (N.=25), AR (N.=75) and healthy controls (N.=52) were evaluated. Clinical examinations, spirometry and bronchodilation tests were performed. RESULTS: In asthmatics there was a strong correlation between FEF25-75% and FEV1% (r=0.596, P<0.001); and between FEF25-75% and FEV1/FVC (r=0.740, P<0.001). In AR patients correlation between FEF25-75% and FEV1% (r=0.367, P=0.001); and between FEF25-75% and FEV1/FVC (r=0.534, P<0.001) were less prominent compared to asthmatics but they were still significant and strong. In children with both AR and asthma correlation between FEF25-75% and FEV1% (r=0.633, P=0.001) and between FEF25-75% and FEV1/FVC (r=0.539, P=0.005) were again significant. Pre-test FEV1% and FEF25-75% in AR patients were lower than that of the control subjects. After the bronchodilation, percentage change in the FEV1 in AR patients were significantly higher than the control subjects (P=0.010). AR patients showed significant increases in FEV1%, (P<0.001), FEF25-75%, (P<0.001) and (P=0.001) after the bronchodilation test. Within the AR patients, only 12/75 (16.0%) showed bronchodilation with salbutamol. Among the ones with a FEF25-75% <65%, FEV1% was normal in 6/43 (14%) patients in asthmatics, and FEV1% was normal in 3/9 (33%) patients in asthma +AR patients. CONCLUSIONS: Besides the FEV1% and FEV1/FVC, the FEF25-75% may be a useful and early spirometric parameter to evaluate the children with asthma and or AR.
Assuntos
Asma/diagnóstico , Broncodilatadores/administração & dosagem , Rinite Alérgica/diagnóstico , Espirometria/métodos , Adolescente , Albuterol/administração & dosagem , Asma/fisiopatologia , Estudos de Casos e Controles , Criança , Feminino , Volume Expiratório Forçado , Humanos , Masculino , Fluxo Máximo Médio Expiratório , Rinite Alérgica/fisiopatologia , Capacidade VitalRESUMO
Hüsrevoglu-Esen F. Altuner-Torun Y, Karakükçü Ç, Köse S, Sehriyaroglu A, Kafadar D, Esen A, Köse M. Gelsolin levels in patients with bronchiolitis. Turk J Pediatr 2018; 60: 286-289. Bronchiolitis is the leading cause of hospitalization in infants. Biomarkers can show severity of the disease and help in clinical management. In this study, the aim was to determine the clinical predictiveness of plasma gelsolin levels (pGSN) in acute bronchiolitis. From December 2013 to May 2014, 52 patients with bronchiolitis (aged < 24 months) were included in this study. Baseline clinical characteristic, complete blood count, C-Reactive Protein, plasma gelsolin levels, chest X-rays were obtained in all patients. The patients were divided into three groups as mild, moderate and severe based on clinical findings. There was no significant difference in pGSN levels between the control group and 3 study groups according to their clinical scores such as mild, moderate and severe bronchiolitis (p > 0.05). Recent studies reported that pGSN levels can be used as a biomarker in sepsis, inflammation and injuries. In this study, we have demonstrated that pGSN level is not a predictive biomarker of bronchiolitis and its severity. Hence, we hypothesized that pGSN levels can be used in bacterial infections rather than viral infections as a biomarker.
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Biomarcadores/sangue , Bronquiolite/sangue , Gelsolina/sangue , Contagem de Células Sanguíneas/estatística & dados numéricos , Proteína C-Reativa , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Índice de Gravidade de DoençaRESUMO
Here, we report a case of hemophilia A with myocarditis, encephalopathy, and spontaneous intramedullary hemorrhage. A 14-month-old male infant presented with loss of consciousness, generalized tonic-clonic convulsions, and cardiac failure. The neurological examination was normal. Myocarditis was diagnosed. After administration of fresh frozen plasma, the aPTT did not return to normal. The factor VIII (FVIII) level was 10.2% the normal level, and the patient was diagnosed with hemophilia A. The cerebrospinal fluid (CSF) evaluation was unremarkable, with the exception of elevated CSF protein levels. An electroencephalogram revealed diffuse slowing of background activity. The spinal MRI revealed chronic bleeding in areas of the medulla spinalis. Tests for the antibodies associated with autoimmune encephalitis were negative. Anti-thyroglobulin (THG) (11.8 U/mL [normal, 0 to 4 U/mL]) and anti-thyroid peroxidase (TPO) (53.9 U/mL [normal, 0 to 9 U/mL]) antibodies were present in the serum. The patient received 1 g/kg intravenous immunoglobulin G (IVIG) for 2 days based on a diagnosis of myocarditis and Hashimoto's encephalopathy. After the first month of treatment his clinical findings were negative. He developed an inhibitor to FVIII 1 month after initiation of FVIII replacement therapy. Hemophilia A has various clinical presentations. Autoimmunity may lead to early inhibitor development in patients with hemophilia.
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Encefalite/diagnóstico , Doença de Hashimoto/diagnóstico , Hemofilia A/diagnóstico , Miocardite/diagnóstico , Anticorpos/sangue , Autoanticorpos/sangue , Autoimunidade , Eletroencefalografia , Encefalite/terapia , Fator VIII/imunologia , Fator VIII/uso terapêutico , Doença de Hashimoto/terapia , Hemofilia A/terapia , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Lactente , Iodeto Peroxidase/imunologia , Imageamento por Ressonância Magnética , Masculino , Miocardite/terapiaRESUMO
Renal involvement in non-Hodgkin lymphoma is a recognized development, but it mostly follows a diagnosis of lymphoma. We describe a rare case of a T-cell-type non-Hodgkin lymphoma that first presents as nephromegaly in a 5-year-old girl admitted to the emergency department with abdominal pain. Further investigation revealed bilateral nephromegaly, but the results of blood tests, imaging studies, and bone marrow aspiration were inconclusive. During the second week of hospitalization, significant physical examination revealed an enlarged lymph node in the anterior cervical chains, confirming a diagnosis of Non-Hodgkin's lymphoma. This case illustrates that it is important to have a high degree of suspicion in any patient presenting with unexplained enlarged kidneys without any identifiable cause because it could be the first presentation of a hematologic malignancy.
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Neoplasias Renais/secundário , Rim/patologia , Linfoma de Células T/diagnóstico , Dor Abdominal/etiologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Rim/diagnóstico por imagem , Neoplasias Renais/tratamento farmacológico , Linfoma de Células T/tratamento farmacológicoRESUMO
Acute necrotizing encephalopathy is characterized by multiple, symmetrical lesions involving the thalamus, brainstem, cerebellum, and white matter and develops secondarily to viral infections. Influenza viruses are the most common etiological agents. Here, we present the first case of acute necrotizing encephalopathy to develop secondarily to human bocavirus. A 3-year-old girl presented with fever and altered mental status. She had had a fever, cough, and rhinorrhea for five days. The patient was admitted to the intensive care unit with an initial diagnosis of encephalitis when vomiting, convulsions, and loss of consciousness developed. Signs of meningeal irritation were detected upon physical examination. There was a mild increase in proteins, but no cells, in the cerebrospinal fluid (CSF). Brain magnetic resonance imaging showed symmetrical, heterogeneous hyperintensities bilaterally in the caudate nuclei and putamen. Ammonium, lactate, tandem mass spectroscopy, and urine organic acid were normal. No bacteria were detected in the CSF cultures. Human bocavirus was detected in a nasopharyngeal aspirate using real-time PCR, while no influenza was detected. Oseltamivir, acyclovir, 3% hypertonic saline solution, and supportive care were used to treat the patient, who was discharged after two weeks. She began to walk and talk after one month of physical therapy and complete recovery was observed after six months. Human bocavirus is a recently identified virus that is mainly reported as a causative agent in respiratory tract infections. Here, we present a case of influenza-like acute necrotizing encephalopathy secondary to human bocavirus infection.
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Bocavirus Humano/patogenicidade , Leucoencefalite Hemorrágica Aguda/etiologia , Leucoencefalite Hemorrágica Aguda/virologia , Núcleo Caudado/diagnóstico por imagem , Pré-Escolar , Feminino , Humanos , Leucoencefalite Hemorrágica Aguda/diagnóstico por imagem , Imageamento por Ressonância Magnética , Putamen/diagnóstico por imagemRESUMO
Additional nutritional deficiencies may accompany zinc deficiency. We determined the vitamin B12 levels in patients with zinc (Zn) deficiency. This retrospective study enrolled 256 patients age 6 months to 16 years (176 females and 80 males) in whom Zn levels in hair samples were measured concurrently with serum vitamin B12 and ferritin levels. For all patients, we retrospectively assessed the hair Zn levels, serum ferritin and vitamin B12 levels, red blood cell count, hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, and red cell distribution levels. Data were analyzed to determine whether there was a significant difference between any of these parameters and the presence of vitamin B12 deficiency between patients with and without Zn deficiency. In all 118 patients had Zn levels < 100 µg/g and 138 patients had levels > 100 µg/g. No significant differences were observed in ferritin levels, red blood cell parameters, or presence of iron deficiency or anemia between the two groups (p > 0.05). The median vitamin B12 level was 323 (range 238-440) pg/mL in the Zn-deficient group and 276 (range 208-382) pg/mL in those with normal Zn levels. Vitamin B12 levels were significantly higher in the Zn-deficient group (p = 0.02). A significant negative correlation was detected between vitamin B12 levels and Zn levels (r = -0.17, p = 0.004). Vitamin B12 levels are higher in patients with Zn deficiency; thus, Zn may have a negative effect on vitamin B12 levels.
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BACKGROUND: Gelsolin is an actin-binding protein with several cellular functions including anti-apoptosis and is reported to have an anti-inflammatory effect. Apoptosis of keratinocytes has been implicated as a key mechanism of atopic dermatitis (AD). OBJECTIVE: We aimed to determine plasma gelsolin (pGSN) levels in children with atopic dermatitis (AD). METHOD: The diagnosis of AD was made according to Hanifin and Rajka criteria. The disease severity was scored by objective SCORAD index by the same allergist. Skin prick testing (SPT), total IgE levels, and eosinophil counts were analyzed. The pGSN levels were determined using ELISA technique. RESULTS: Children aged between 0.5 and 3.0 years were included in the study. The children with AD (AD; n = 84) were analyzed in two groups according to the presence (AD+/Atopy+; n = 54) or absence of SPT positivity (AD+/Atopy−; n = 30). The comparisons were made with a healthy control group matched for age and sex (n = 81). The median (interquartile range) of pGSN levels in AD+/A+, AD+/A− and control groups were 267 μg/ml (236-368), 293 (240-498) and 547 (361-695), respectively (p < 0.001). The difference between the control group and AD sub-groups remained significant after Bonferroni correction (p < 0.001). Correlation analysis failed to reach significance with the disease severity total IgE levels and eosinophil counts. CONCLUSION: This is the first study investigating the association of pGSN levels with AD and disease severity. pGSN levels decreased in AD. These findings suggest that gelsolin may have a role in the disease process in AD patients
No disponible
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Humanos , Masculino , Feminino , Lactente , Dermatite Atópica/diagnóstico , Dermatite Atópica/etiologia , Dermatite Atópica/patologia , Apoptose/imunologia , Apoptose/fisiologia , Gelsolina/análise , Gelsolina/imunologia , Gelsolina/uso terapêutico , Rinite Alérgica/radioterapia , Imunoadsorventes/imunologia , Imunoadsorventes/uso terapêutico , Ácido Edético/análise , Ácido Edético/imunologia , Ácido Edético/uso terapêutico , Estudos de Coortes , Estudos ProspectivosRESUMO
Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32-13 T > G homozygote and c.1856G > A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease.
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DNA/genética , Predisposição Genética para Doença , Doença de Depósito de Glicogênio Tipo II/genética , Mutação , alfa-Glucosidases/genética , Análise Mutacional de DNA , Feminino , Homozigoto , Humanos , Lactente , Fenótipo , alfa-Glucosidases/metabolismoRESUMO
BACKGROUND: Gelsolin is an actin-binding protein with several cellular functions including anti-apoptosis and is reported to have an anti-inflammatory effect. Apoptosis of keratinocytes has been implicated as a key mechanism of atopic dermatitis (AD). OBJECTIVE: We aimed to determine plasma gelsolin (pGSN) levels in children with atopic dermatitis (AD). METHOD: The diagnosis of AD was made according to Hanifin and Rajka criteria. The disease severity was scored by objective SCORAD index by the same allergist. Skin prick testing (SPT), total IgE levels, and eosinophil counts were analyzed. The pGSN levels were determined using ELISA technique. RESULTS: Children aged between 0.5 and 3.0 years were included in the study. The children with AD (AD; n=84) were analyzed in two groups according to the presence (AD+/Atopy+; n=54) or absence of SPT positivity (AD+/Atopy-; n=30). The comparisons were made with a healthy control group matched for age and sex (n=81). The median (interquartile range) of pGSN levels in AD+/A+, AD+/A- and control groups were 267µg/ml (236-368), 293 (240-498) and 547 (361-695), respectively (p<0.001). The difference between the control group and AD sub-groups remained significant after Bonferroni correction (p<0.001). Correlation analysis failed to reach significance with the disease severity total IgE levels and eosinophil counts. CONCLUSION: This is the first study investigating the association of pGSN levels with AD and disease severity. pGSN levels decreased in AD. These findings suggest that gelsolin may have a role in the disease process in AD patients.
Assuntos
Dermatite Atópica/diagnóstico , Gelsolina/sangue , Índice de Gravidade de Doença , Apoptose , Estudos de Casos e Controles , Dermatite Atópica/sangue , Ensaio de Imunoadsorção Enzimática , Eosinófilos/imunologia , Feminino , Humanos , Imunoglobulina E/sangue , Lactente , Queratinócitos/patologia , Contagem de Leucócitos , Masculino , Estudos Prospectivos , Distribuição Aleatória , Testes Cutâneos , TurquiaRESUMO
We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.
Assuntos
Sequência de Bases , Éxons , Genes Recessivos , Doenças Genéticas Inatas/genética , Proteínas Associadas aos Microtúbulos/genética , Paraplegia/genética , Característica Quantitativa Herdável , Deleção de Sequência , Códon de Terminação/genética , Exoma , Feminino , Humanos , Cinesinas , MasculinoRESUMO
OBJECTIVE: The aim of the present study was to report the frequency of ß-thalassemia trait and other hemoglobinopathies in Kayseri province, which is located in Middle Anatolia of Turkey, as part of the premarital screening program. METHODS: The study included subjects admitted to Family Planning Center for premarital screening test between January 2009 and March 2010. Blood samples of the couples were obtained during admission to the marriage office. Complete blood counts and hemoglobin (Hb) variant analysis were performed with automatic counter and capillary electrophoresis. RESULTS: A total of 10,261 people were screened. The prevalence of patients with the ß-thalassemia trait was 1.71% (175/10261). Moreover, HbD Punjab and HbO Arab were the most common Hb variants after ß-thalassemia trait with the frequencies of 0.36% and 0.09%, respectively. Only 2 HbS were detected in 15 months of screening time. In 2 couples both partners were found to be carriers of ß-thalassemia trait, and both partners of 1 couple to be carrier of HbD. CONCLUSIONS: Kayseri is not a high-risk region according to Mediterranean parts of Turkey, but the city takes migrations apart from neighbor cities, migrations from East and South provinces because of its geographic and industrial situation. For that reason detecting carrier couples with premarital screening program is an effective way of controlling thalassemia major.