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1.
Arab J Gastroenterol ; 20(2): 95-98, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31182344

RESUMO

BACKGROUND AND STUDY AIMS: Juvenile idiopathic arthritis (JIA) is characterized by autoimmune aetiology. A gene locus 4q27 related to rheumatoid arthritis, psoriatic arthritis, and coeliac disease is associated with susceptibility to JIA. There are reports indicating several patients with JIA had been diagnosed with CD. We aimed to assess the frequency of coeliac disease (CD) in patients with juvenile idiopathic arthritis (JIA). PATIENTS AND METHODS: This prospective study was carried out from October 2015 to August 2016 and included 96 patients with JIA. All patients were evaluated in terms of clinical and laboratory findings of CD. Levels of total IgA and tissue transglutaminase antibody (tTG) IgA were measured in all patients. Those with increased level of tTG IgA were further tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy were planned for a definite diagnosis of CD in patients with positive EMA. RESULTS: Of the 96 patients in our study, 34 (35.4%) had oligoarticular form of JIA, 29 (30.2%) had polyarticular form, 12 (12.5%) had ERA form, 11 (11.5%) had systemic form, and 10 (10.4%) had psoriatic form. Sixteen of our patients (16.6%) were not using any drugs during the study. Neither EMA IgA antibodies were analysed nor gastro-duodenoscopy was performed because no patients were positive for tTG IgA. There was no difference in terms of tTG levels between the patients using NSAIDs or other drugs. CONCLUSION: We did not find CD in children with JIA. Long term studies with more JIA patients are needed to provide more precise interpretation.

2.
Eur J Rheumatol ; : 1-4, 2019 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-31070578

RESUMO

OBJECTIVE: The aim of the present study was to investigate the frequency of celiac disease (CD) in patients with juvenile systemic lupus erythematosus (JSLE) and the potential association of JSLE and CD. METHODS: This was a cross-sectional study performed from October 2015 to October 2017. A total of 50 patients with JSLE were included in the study. The levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in all patients. Subjects with increased tTG were further evaluated for anti-endomysial antibodies (EMAs). Gastroduodenoscopy and intestinal biopsy were performed in those with increased EMA levels to confirm the diagnosis of CD. RESULTS: The study included 44 (88.0%) female and 6 (12.0%) male patients. Of the 50 patients, 30 (60.0%) received corticosteroids, and only 4 (8.0%) received no therapy at the time of the study. Only 3 (6.0%) patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies, and none of them had a positive result. CONCLUSION: We did not find CD in children with systemic lupus erythematosus. Studies with more patients with JSLE are needed to conclude a more precise result.

3.
Turk Pediatri Ars ; 53(3): 193-196, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30459520

RESUMO

Superior mesenteric artery syndrome, also known as Wilkie's Syndrome, is a life threatening clinical entity which developes as a result of obstructed second or third part of duodenum compressed between aorta and superior mesenteric artery. In this rare syndrome, a rapid weight loss is accompanied by stomach ache, abdominal distension, lack of appetite, nausea and vomiting after meals. In patients admitted for acute abdomen, superior mesenteric artery syndrome should be included in the differential diagnosis in case of a preceeding rapid weight loss. X-ray of barium passage, abdominal ultrasound, gastroscopy, abdominal angio-tomography or abdominal magnetic resonance angiography may be useful for diagnosis. Conservative and surgical approaches are available for the treatment. In this report we aimed to emphasize that superior mesenteric artery syndrome cases may admit for acute abdomen and that superior mesenteric artery syndrome should be included in differential diagnosis.

4.
Dig Dis Sci ; 2018 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-30311156

RESUMO

BACKGROUND/AIMS: The aim of this study was to determine the prevalence of celiac disease (CD) in healthy school-aged children in the northern region of Cyprus and to investigate the existence of potential markers that may accompany CD. This is the first study to measure the prevalence of CD in the northern region of Cyprus. METHODS: This study included 3792 school-aged children who were between the ages of 6 and 10 years between January 2015 and October 2016. CD was screened using total serum IgA, IgA anti-tissue transglutaminase (tTG), and IgA antiendomysial (EMA) antibodies. Subjects with selective IgA deficiency were further tested for IgG-tTG. Small intestinal biopsies were performed on all subjects with tTG antibody positivity. Risk factors and symptoms related to CD were evaluated using questionnaires in both the CD and control groups. RESULTS: Of the 3792 subjects, 39 were antibody positive (IgA-tTG was positive only in 14 subjects, IgA-tTG plus IgA-EMA in 21 subjects, and IgG-tTG in 4 subjects). IgA deficiency was detected in 11 subjects (0.29%). IgG-tTG was positive in 4 subjects with IgA deficiency (36.3%). Intestinal biopsies were performed on 28 of the 39 seropositive subjects. The biopsy findings of 15 children were consistent with CD (IgA-tTG positive in 3, IgA-tTG and IgA-EMA positive in 10, and IgG-tTG positive in 2). Thus, biopsies confirmed CD in 1:256 children (0.39%). CONCLUSIONS: Our study, which is the first study of school-aged children from the northern region of Cyprus, revealed that CD is a prevalent disease in this region.

5.
Arq Gastroenterol ; 55(2): 175-178, 2018 Apr-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30043869

RESUMO

BACKGROUND: Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. OBJECTIVE: We aimed to investigate the relationship between celiac disease and colchicine-resistant familial Mediterranean fever (crFMF) disease. METHODS: This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. RESULTS: Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. CONCLUSION: We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation.


Assuntos
Doença Celíaca/sangue , Colchicina/uso terapêutico , Febre Familiar do Mediterrâneo/tratamento farmacológico , Programas de Rastreamento , Adolescente , Estudos de Casos e Controles , Doença Celíaca/genética , Criança , Estudos Transversais , Resistência a Medicamentos , Febre Familiar do Mediterrâneo/complicações , Feminino , Humanos , Imunoglobulina A/sangue , Masculino , Mutação , Estudos Prospectivos
6.
Arq. gastroenterol ; 55(2): 175-178, Apr.-June 2018. tab
Artigo em Inglês | LILACS-Express | ID: biblio-950511

RESUMO

ABSTRACT BACKGROUND: Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. OBJECTIVE: We aimed to investigate the relationship between celiac disease and colchicine-resistant familial Mediterranean fever (crFMF) disease. METHODS: This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. RESULTS: Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. CONCLUSION: We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation.


RESUMO CONTEXTO: A febre familiar do Mediterrâneo e a doença celíaca compartilham algumas características clínicas comuns, tais como dor abdominal, diarreia, artralgia e artrite. Além disso, ambas as doenças são associadas a muitas doenças auto-imunes e inflamatórias. Estudos anteriores mostraram associação entre febre familiar do Mediterrâneo e diferentes condições clínicas. OBJETIVO: Investigar a relação entre doença celíaca e doença de febre familiar do Mediterrâneo colchicina-resistente (FMFcr). MÉTODOS: Foi realizado um estudo prospectivo no departamento de Gastroenterologia pediátrica e Reumatologia pediátrica de outubro de 2015 até agosto de 2016. Um total de 24 pacientes com FMFcr foram incluídos. Sessenta indivíduos saudáveis combinados por sexo e idade foram utilizados como um grupo de controle. Os níveis de IgA total e transglutaminase tissular (tTG) anticorpo IgA foram medidos em ambos os grupos. Aqueles com maior nível de tTG IgA foram testados para anticorpos de IgA antiendomísio (EMA). Gastroduodenoscopia e biópsia intestinal foram planejadas para um diagnóstico definitivo da doença celíaca em pacientes com EMA positivo. RESULTADOS: Dos 24 pacientes neste estudo, 18 (75,0%) eram do sexo feminino. Somente 4 (16,6%) de 24 pacientes foram positivos para tTG IgA. Pacientes com tTG IgA positivo então foram testados para anticorpos IgA de EMA, e nenhum deles teve um resultado positivo. Somente um (1,6%) indivíduo do grupo controle foi positivo para tTG IgA, mas a positividade EMA não foi detectada. CONCLUSÃO: Não encontramos a doença celíaca em 24 crianças com FMFcr. Desde que a doença FMFcr é raramente vista na população em geral, estudos com mais pacientes são necessários para fornecer interpretação mais precisa.

7.
Nutrition ; 48: 40-47, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29469018

RESUMO

OBJECTIVES: Many screening methods, such as the Screening Tool Risk on Nutritional Status and Growth (STRONGkids) and the Pediatric Yorkhill Malnutrition Score (PYMS), have been developed to detect malnutrition in pediatric patients. We aimed to explore the prevalence of malnutrition risk in hospitalized children via symptoms and identification of contributing factors, and to examine the efficacy of malnutrition screening tools for hospitalized children. METHODS: STRONGkids and PYMS were applied to 1513 inpatients at 37 hospitals in 26 cities from different regions of Turkey. Physical measurements were collected at hospital admission and at discharge. z-Scores of height-for-age, weight-for-age, weight-for-height, and body mass index-for-age were calculated. RESULTS: Overall, 1513 patients were included in the study. A body mass index standard deviation score of less than -2 was present in 9.5% of the study population at hospital admission, whereas 11.2% of the participants had a weight-for-length/height score of less than -2 at hospital admission. According to STRONGkids results, the proportion of the patients with an underlying chronic disease was higher for the patients at high risk of malnutrition than for the patients at medium or low risk (91% compared with 47% or 45%, respectively). PYMS results indicated that patients at high risk of malnutrition have more chronic diseases (75%) than the patients at medium or low risk of malnutrition (55% and 44%, respectively). CONCLUSIONS: Use of anthropometric measurements in addition to screening tools to identify hospital malnutrition (such as PYMS, STRONGkids) will prevent some nutritional risk patients from being overlooked.

8.
J Pediatr Hematol Oncol ; 39(7): e373-e376, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28859028

RESUMO

Sinusoidal obstruction syndrome (SOS) is a life-threatening complication generally occurring after hematopoietic stem cell transplantation. SOS after standard dose chemotherapy in malignancies is rare. Between the year 1995 and 2016, 414 patients were diagnosed with acute lymphoblastic leukemia and 113 patients were diagnosed with Wilms tumor in our institution. Among these patients, 4 patients with acute lymphoblastic leukemia (0.96%) and 2 patients with Wilms tumor (1.7%) developed SOS during treatment. SOS behaves like a local disseminated intravascular coagulation. Defibrotide has proved to be effective in SOS. In this article, we report our experience with defibrotide in SOS.


Assuntos
Hepatopatia Veno-Oclusiva/tratamento farmacológico , Neoplasias/complicações , Polidesoxirribonucleotídeos/uso terapêutico , Antineoplásicos/efeitos adversos , Criança , Hepatopatia Veno-Oclusiva/induzido quimicamente , Hepatopatia Veno-Oclusiva/etiologia , Humanos , Neoplasias/tratamento farmacológico , Inibidores da Agregação de Plaquetas/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Tumor de Wilms/complicações , Tumor de Wilms/tratamento farmacológico
9.
N Engl J Med ; 377(1): 52-61, 2017 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-28657829

RESUMO

BACKGROUND: Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. METHODS: We studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease; the disorder followed an autosomal recessive pattern of inheritance. Whole-exome sequencing was performed to identify gene variants. We evaluated the function of CD55 in patients' cells, which we confirmed by means of exogenous induction of expression of CD55. RESULTS: We identified homozygous loss-of-function mutations in the gene encoding CD55 (decay-accelerating factor), which lead to loss of protein expression. Patients' T lymphocytes showed increased complement activation causing surface deposition of complement and the generation of soluble C5a. Costimulatory function and cytokine modulation by CD55 were defective. Genetic reconstitution of CD55 or treatment with a complement-inhibitory therapeutic antibody reversed abnormal complement activation. CONCLUSIONS: CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (the CHAPLE syndrome) is caused by abnormal complement activation due to biallelic loss-of-function mutations in CD55. (Funded by the National Institute of Allergy and Infectious Diseases and others.).


Assuntos
Antígenos CD55/genética , Ativação do Complemento/genética , Proteínas do Sistema Complemento/metabolismo , Mutação , Enteropatias Perdedoras de Proteínas/genética , Trombose/genética , Antígenos CD55/sangue , Criança , Pré-Escolar , Ativação do Complemento/efeitos dos fármacos , Inativadores do Complemento/farmacologia , Feminino , Homozigoto , Humanos , Imunoglobulina A/sangue , Lactente , Intestino Delgado/patologia , Masculino , Linhagem , Enteropatias Perdedoras de Proteínas/complicações , Estatísticas não Paramétricas , Síndrome , Linfócitos T/metabolismo
10.
Mod Rheumatol ; 27(6): 1036-1039, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28151032

RESUMO

We aimed to assess the frequency of celiac disease (CD) in patients with Familial Mediterranean Fever (FMF). This prospective study was carried out from October 2015 to March 2016 and included 303 patients with FMF. We used 98 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in all groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Patients with positive EMA underwent gastro-duodenoscopy and intestinal biopsy for a definite diagnosis of CD. Only 9 of 303 patients (2.9%) were positive for tTG IgA. Patients positive for tTG IgA were then tested for EMA and only one of them (0.3%) had a positive result. This patient underwent gastro-duodenoscopy. The pathological report was compatible with Marsh 0 classification score for the diagnosis of CD. Two subjects from the control group were positive for tTG IgA but none of them had positive EMA antibodies. We did not find CD in the large cohort of childhood FMF patients. The prevalence of CD did not show association with presence of childhood FMF in this study and CD would not be a considerable complication of childhood FMF.


Assuntos
Doença Celíaca/epidemiologia , Febre Familiar do Mediterrâneo/epidemiologia , Doença Celíaca/sangue , Doença Celíaca/patologia , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/sangue , Feminino , Humanos , Imunoglobulina A/sangue , Imunoglobulina A/imunologia , Lactente , Intestinos/patologia , Masculino , Transglutaminases/imunologia
11.
Turk Pediatri Ars ; 52(4): 236-239, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29483805

RESUMO

Annular pancreas is a rare congenital anomaly that consists of a ring of pancreatic tissue partially or completely encircling the second part of the duodenum. It can affect anyone from neonates to adults, and is difficult to diagnose because it can present in a wide range of clinical conditions. Although cases have also been reported in adults, symptomatic cases are often referred in infancy or early childhood. A 17-year-old female patient who was diagnosed as having annular pancreas is reported. The patient had had non-bilious vomiting accompanied by abdominal pain, especially 5-10 minutes after meals, for seven years. Annular pancreas, which may be seen at any age, should be considered in the differential diagnosis of patients with non-bilious vomiting, particularly after meals, over a long period.

12.
Pediatr Gastroenterol Hepatol Nutr ; 19(3): 207-209, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27738603

RESUMO

Benzalkonium chloride (BAC) is a caustic agent which is used in farms, homes and hospitals for cleaning skin and wounds as an antiseptic solution. It may lead to digestive system injuries in case of ingestion. We present a two-days-old newborn case which was carried to the emergency unit with complaints of poor breastfeeding, uneasiness and crying for 4-6 hours. Her mom confessed that she had given a spoon of 10% BAC solution for her cough. Initial laboratory tests were in normal ranges. A gastroscopy performed in the second hour of her admission revealed an hyperemic and edematous mucosa in the middle third of esophagus and a circumferential ulceration followed in the distal portion. Hereupon, a conservative treatment for 10 days was administered and the control gastroscopy demonstrated that the damage was almost totally improved. She was the youngest case with this etiology and successfully treated with conservative approach.

14.
Turk J Pediatr ; 57(3): 258-65, 2015 May-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26701945

RESUMO

Gastroesophageal reflux is considered a risk factor for recurrent or persistent upper and lower respiratory tract conditions including asthma, chronic cough, sinusitis, laryngitis, serous otitis and paroxysmal laryngospasm. Fifty-one subjects with recurrent (more than three) episodes of upper respiratory tract infection (URTI), serous otitis or sinusitis who had been admitted to an earnose- throat (ENT) outpatient clinic during the previous year were enrolled in the present study to evaluate the presence of laryngeal and/or esophageal reflux. The participants, who were randomly selected, were questioned about symptoms of reflux, including vomiting, abdominal pain, failure to thrive, halitosis, bitter taste in the mouth, chronic cough, heartburn, constipation and hoarseness. All subjects had an endoscopic examination, an otoscopic examination, a tympanogram and upper GI system endoscopy. Esophagitis was diagnosed endoscopically and histologically. The likelihood of occurrence of esophagitis was found to be higher only among subjects with postglottic edema/erythema as determined by pathological laryngeal examination. The reflux complaints reported did not predict the development of esophagitis, but the odds of esophagitis occurring were ninefold greater among subjects with recurrent otitis. Of the subjects, 45.1% were Helicobacter pylori-positive. However, no association was found between esophagitis and Helicobacter pylori positivity. The likelihood of the occurrence of esophagitis was found to be increased in the presence of recurrent otitis media and/or postglottic edema, irrespective of the presence of reflux symptoms. We concluded that, in contrast to the situation where adults are concerned, the boundaries for discriminating laryngopharyngeal reflux from gastroesophageal reflux are somewhat blurred in pediatric patients.


Assuntos
Esofagite/complicações , Refluxo Gastroesofágico/etiologia , Otite/complicações , Sinusite/complicações , Adolescente , Instituições de Assistência Ambulatorial , Criança , Pré-Escolar , Doença Crônica , Tosse/complicações , Endoscopia , Esofagite/diagnóstico , Feminino , Refluxo Gastroesofágico/diagnóstico , Helicobacter pylori , Humanos , Masculino , Otite/diagnóstico , Recidiva , Sinusite/diagnóstico , Turquia
15.
J Pediatr Gastroenterol Nutr ; 60(3): 332-8, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25373860

RESUMO

OBJECTIVES: In the present study, we studied a cohort of patients with very early onset inflammatory bowel disease (IBD) to determine the frequency of mutations in the interleukin 10 (IL10) receptor genes as a cause of early-onset IBD. METHODS: Sanger sequencing was performed to determine the presence of IL10 and/or IL10 receptor mutations in 17 patients with a diagnosis of very early onset IBD (disease onset <2 years of age in 15 patients, between 3 and 4 years in the other 2). Mutation screening was performed including all of the coding regions of the IL10, IL10RA, and IL10RB genes. We then compared the follow-up findings of the patients with IL10 receptor mutations in terms of demographic, clinical, laboratory, and treatment response properties with those of patients diagnosed as having very early onset IBD with no mutation. RESULTS: We identified 3 patients bearing mutations in the IL10 or IL10 receptor genes, including 1 mutation in IL10RB that has been described recently (c.G477A, p.Trp159*) and 2 novel mutations affecting the IL10RA gene (c.T192G, p.Tyr64 and c.T133G, p.Trp45Gly). Collectively, these mutations thus provided genetic etiology for 17.6% of the cohort under investigation. The presence of a family history of IBD and the clinical course of Crohn disease differed between patients with mutations in the IL-10 pathway and those without such mutations. Although perianal fistulas were found in all of the patients with IL10 receptor mutations, they were found in only 14.3% of those without such mutations. The lower values of weight-for-age and height-for-age z scores, necessity for more intensive therapy, achievement of longer periods until remission, and frequent relapses in the patients bearing mutations in the IL10 receptor genes all underlined the severity of the disease and its relatively poor response to treatment. CONCLUSIONS: In spite of the small number of patients with mutations affecting the IL-10 signaling pathway in our study, in all of the patients with IL10 receptor mutations, the disease onset occurs at an early age, the prognosis is poor, and the response to treatment is insufficient.


Assuntos
Predisposição Genética para Doença , Doenças Inflamatórias Intestinais/genética , Subunidade alfa de Receptor de Interleucina-10/genética , Subunidade beta de Receptor de Interleucina-10/genética , Mutação , Fístula Retal/etiologia , Substituição de Aminoácidos , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Doença de Crohn/diagnóstico , Doença de Crohn/genética , Doença de Crohn/fisiopatologia , Doença de Crohn/terapia , Éxons , Feminino , Seguimentos , Estudos de Associação Genética , Humanos , Lactente , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/fisiopatologia , Doenças Inflamatórias Intestinais/terapia , Interleucina-10/genética , Interleucina-10/metabolismo , Subunidade alfa de Receptor de Interleucina-10/metabolismo , Subunidade beta de Receptor de Interleucina-10/metabolismo , Masculino , Polimorfismo de Nucleotídeo Único , Prognóstico , Índice de Gravidade de Doença
16.
Pediatr Int ; 57(2): 281-9, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25223216

RESUMO

BACKGROUND: Hereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite nitisinone treatment HT1 still carries the risks of hepatocellular carcinoma (HCC) and neuropsychological outcome. METHODS: A retrospective single center study was carried out based on the phenotype, therapy and outcome in 38 Turkish patients with HT1 diagnosed during the last 20 years. RESULTS: None of the patients was diagnosed on newborn screening. The patients were grouped according to acute, subacute and chronic forms of the disorder. The main clinical manifestations were hepatosplenomegaly, liver and renal tubular dysfunction. Thirty-six patients were treated with nitisinone. The mean duration of nitisinone treatment was 64 months and the mean dosage was 1.2 mg/kg/day. Dietary compliance problems were frequent. Eleven patients had cognitive evaluation (mean total IQ, 84 points). Six patients had living donor liver transplantation despite nitisinone treatment: three due to suspected HCC, two for non-compliance to diet, and one for both, at a median age of 90 months. CONCLUSION: Nitisinone treatment is effective and improves both short- and long-term prognosis of HT1. Early diagnosis on newborn screening is needed because delay in treatment increases the risk of the persistence of hepatic disease and HCC. Interruption of the drug can lead to re-occurrence of hepatocellular damage and neurological crisis. Increased α-fetoprotein and new hypoechoic nodule formation are the warning signs for HCC.


Assuntos
Cicloexanonas/uso terapêutico , Inibidores Enzimáticos/uso terapêutico , Nitrobenzoatos/uso terapêutico , Tirosinemias/epidemiologia , Doença Aguda , Criança , Pré-Escolar , Doença Crônica , Dietoterapia , Diagnóstico Precoce , Feminino , Hepatomegalia/tratamento farmacológico , Hepatomegalia/epidemiologia , Humanos , Lactente , Recém-Nascido , Nefropatias/diagnóstico , Nefropatias/tratamento farmacológico , Nefropatias/epidemiologia , Transplante de Fígado , Doadores Vivos , Masculino , Prognóstico , Estudos Retrospectivos , Esplenomegalia/diagnóstico , Esplenomegalia/tratamento farmacológico , Esplenomegalia/epidemiologia , Turquia/epidemiologia , Tirosinemias/diagnóstico , Tirosinemias/terapia
17.
Turk J Gastroenterol ; 25(5): 568-70, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25417621

RESUMO

Macro-aspartate transaminase (macro-AST) must be considered when the aspartate transaminase (AST) level is chronically high without any liver, cardiac, or muscle disease. Many specialized laboratory techniques have been recommended for diagnosing macro-AST, including the polyethylene glycol immune precipitate technique, which is simple. This study presents a considerably easier method based on the studies of Davidson and Watson and Castiella et al. Our method is based on the decrease in the plasma AST level after storage of the macroenzyme at 2-8 °C for 5 days, and has the advantages of low cost, reliability, and practicality at any health center. In our eight cases of macro-AST, the AST activity at day 6 had decreased by more than 50% from day 1. This method is practical for primary healthcare facilities because of its easy application and accurate results, and obviated the need for unnecessary tests after diagnosis.


Assuntos
Aspartato Aminotransferases/sangue , Coleta de Amostras Sanguíneas/métodos , Estudos de Casos e Controles , Criança , Pré-Escolar , Ensaios Enzimáticos Clínicos , Feminino , Humanos , Lactente , Masculino , Peso Molecular
18.
Pediatrics ; 133(6): E1518-24, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24864182

RESUMO

OBJECTIVE: Caustic substance ingestion in childhood is a public health issue in developing countries, and several management protocols have been proposed to prevent the resulting esophageal strictures. The role of corticosteroids in preventing corrosive-induced strictures is controversial. Our aim was to study the influence of high doses of corticosteroids in preventing esophageal strictures. METHODS: Eighty-three children with a mean age of 4.10 6 2.63 years and with grade IIb esophageal burns (an esophagogastroscopy was performed within 24­48 hours of injury) due to corrosive substance ingestion were enrolled in our study between 2005 and 2008. Forty-two children (study group) received methylprednisolone (1 g/1.73 m2 per day for 3 days), ranitidine, ceftriaxone, and total parenteral nutrition. Forty-one children (control group) were administered the same regimen excluding methylprednisolone. Stricture development was compared between groups based on endoscopic and radiologic findings. RESULTS: During the endoscopic examination, stricture development was observed in 4 patients (10.8%) in the study group and in 12 patients (30%) in the control group. The difference was statistically significant (P = .038). The stricture development rate in the upper gastrointestinal system with barium meal was 14.3% and 45.0% in the study and control groups, respectively. The difference was statistically significant (P = .004). The duration of total parenteral nutrition was shorter in the study group compared with the control group (P = .001). High doses of methylprednisolone were well tolerated in the study group without any side effects. CONCLUSIONS: High doses of methylprednisolone used for the management of grade IIb esophageal burns may reduce stricture development.


Assuntos
Queimaduras Químicas/tratamento farmacológico , Cáusticos/toxicidade , Estenose Esofágica/induzido quimicamente , Estenose Esofágica/prevenção & controle , Esôfago/efeitos dos fármacos , Esôfago/lesões , Metilprednisolona/administração & dosagem , Queimaduras Químicas/classificação , Queimaduras Químicas/complicações , Ceftriaxona/administração & dosagem , Criança , Pré-Escolar , Terapia Combinada , Relação Dose-Resposta a Droga , Esofagoscopia , Feminino , Humanos , Infusões Intravenosas , Masculino , Nutrição Parenteral Total , Prognóstico , Ranitidina/administração & dosagem , Turquia
19.
J Pediatr Gastroenterol Nutr ; 58(6): 750-5, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24552673

RESUMO

BACKGROUND: Shear-wave elastography (SWE) is a novel noninvasive method that involves application of local mechanical compression on soft tissue using focused ultrasonography and acquiring strain images that show tissue response. In this study, our goal was to assess the performance of SWE in the staging of liver fibrosis in children with chronic liver disease. METHODS: The study involved measuring SWE values in the right lobe of the liver in a patient group of 76 children with chronic liver disease and a control group of 50 healthy subjects. In the patient group, the shear elastic modulus values were correlated with biopsy results according to the Brunt scoring system (F0: portal fibrosis, F1: perisinusoidal or portal/periportal fibrosis, F2: both perisinusoidal and portal/periportal fibrosis, F3: bridging fibrosis, and F4: cirrhosis). Performance of SWE in estimating liver fibrosis in children was determined based on a receiver-operating characteristics (ROC) analysis. RESULTS: Mean SWE values of the control group and F0 group were not statistically significantly different (P = 0.106). The mean SWE values of the F1, F2, F3, and F4 groups were higher than that of the control group (all P < 0.001). Based on kiloPascal measurement values, the area under the ROC curve was 95.2% (95% confidence interval [CI] 92.1-99.5), with a sensitivity for diagnosing liver fibrosis of 91.5%, a specificity of 94.0%, a positive predictive value of 93.1%, and a negative predictive value of 92.6%. Based on meter-per-second measurement values, the area under the ROC curve was 96.3% (95% CI 92.7-99.8), with a sensitivity for diagnosing liver fibrosis of 93.2%, a specificity of 94.0%, a positive predictive value of 93.2%, and a negative predictive value of 94.0%. Mean SWE values for patients with nonalcoholic steatohepatitis were higher than those in the remainder of the study group. CONCLUSIONS: Although liver fibrosis can be detected using SWE, differentiation of fibrosis stages could not be achieved. The presence of steatosis significantly increased the mean SWE values on elastography and so care should be taken when assessing children with nonalcoholic steatohepatitis.


Assuntos
Técnicas de Imagem por Elasticidade/métodos , Cirrose Hepática/patologia , Fígado/patologia , Índice de Gravidade de Doença , Adolescente , Biópsia , Estudos de Casos e Controles , Criança , Pré-Escolar , Doença Crônica , Feminino , Fibrose , Humanos , Lactente , Hepatopatias/patologia , Masculino , Hepatopatia Gordurosa não Alcoólica/patologia , Curva ROC
20.
Allergy Asthma Immunol Res ; 6(1): 33-8, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24404391

RESUMO

PURPOSE: Calprotectin is a cytosolic protein with immunomodulatory, antimicrobial, and antiproliferative actions. The concentration of calprotectin increases in infection, inflammation, and malignancy. We determined if calprotectin can be used as a marker for the diagnosis and follow-up of bowel inflammation in cow's milk protein allergy (CMPA). METHODS: In total, 32 patients newly diagnosed with CMPA were included (24 IgE-mediated, 8 non-IgE-mediated). In all subjects, a complete blood count, total IgE, cow's milk-specific IgE, and fecal calprotectin (FC) were assessed before and after a cow's milk protein (CMP) elimination diet was started. The results were compared with those of 39 healthy children. RESULTS: The mean FC value before the CMP elimination diet was 516±311 µg/g in the 32 patients with CMPA and 296±94 µg/g in the control group (P=0.011). The mean FC value after the diet in these patients was 254±169 µg/g, which was significantly different from the mean value before the CMP elimination diet (P<0.001). When we compared FC levels before the CMP elimination diet in the IgE-mediated group with the control group, we found no significant statistical difference (P=0.142). The mean FC value before the CMP elimination diet was 886±278 µg/g in the non-IgE-mediated group and 296±94 µg/g in the control group; this difference was statistically significant (P<0.001). In the IgE-mediated and non-IgE-mediated groups, FC values after CMP elimination diet were 218±90 µg/g and 359±288 µg/g, respectively, and FC values before CMP elimination diet were 392±209 µg/g and 886±278 µg/g, respectively; these differences were statistically significant (P=0.001 and P=0.025, respectively). CONCLUSIONS: FC levels may be a useful marker for follow-up treatment and recurrence determination in CMPA.

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