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1.
Orphanet J Rare Dis ; 16(1): 438, 2021 10 19.
Artigo em Inglês | MEDLINE | ID: mdl-34666789

RESUMO

BACKGROUND: The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). Clinical data of 14 children with MPS VI who were followed up at the Department of Pediatrics of the Gazi University Faculty of Medicine in Ankara, Turkey were retrospectively collected from the patients' medical records. Patients were selected based on availability of a pre-ERT baseline and follow-up clinical data for a similar period of time (1.9-3.2 years). Event data (occurrence of acute clinical events, onset of chronic events, surgeries) collected during hospital visits and telemedicine were available for up to 10 years after initiation of ERT (2.5-10 years). RESULTS: Age at initiation of ERT ranged from 2.8 to 15.8 years (mean age 7.5 years). All patients presented with reduced endurance and skeletal abnormalities (dysostosis multiplex) on radiography. Other common clinical manifestations were cardiac valve disease (N = 13), short stature (N = 11), cranial abnormalities on MRI (N = 10), spinal abnormalities on MRI (N = 7), and mild cognitive impairment (N = 6). School attendance was generally poor, and several patients had urinary incontinence. After 1.9 to 3.2 years of ERT, most patients showed improvements in endurance in the 6-min walk test and 3-min stair climb tests; the frequency of urinary incontinence decreased. ERT did not seem to prevent progression of cardiac valve disease, eye disorders, hearing loss, or bone disease. Long-term event-based data showed a high incidence of respiratory tract infections, adenotonsillectomy/adenoidectomy, reduced sleep quality, sleep apnea, and depression before initiation of ERT. The number of events tended to remain stable or decrease in all patients over 2.5-10 years follow-up. However, the nature of the events shifted over time, with a reduction in the frequency of respiratory tract infections and sleep problems and an increase in ophthalmologic events, ear tube insertions, and depression. CONCLUSIONS: This case series shows the high disease burden of the MPS VI population in Turkey and provides a unique insight into their clinical journey based on real-life clinical and event-based data collected before and after initiation of ERT.


Assuntos
Mucopolissacaridose VI , N-Acetilgalactosamina-4-Sulfatase , Adolescente , Criança , Pré-Escolar , Terapia de Reposição de Enzimas , Humanos , Mucopolissacaridose VI/tratamento farmacológico , Radiografia , Estudos Retrospectivos , Turquia
2.
Turk Neurosurg ; 29(1): 95-105, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30614506

RESUMO

AIM: To investigate possible correlations between serum S100B levels and microglial/astrocytic activation in status epilepticus (SE) in lithium-pilocarpine-exposed rat hippocampi and whether serum S100B levels linearly reflect neuroinflammation. Additionally, to assess the effects of minocycline (M), an inhibitor of neuroinflammation. MATERIAL AND METHODS: Rats were divided into 4 groups (6/group), namely, control (C), sham, SE, and SE+M. Animals were exposed to lithium-pilocarpine to induce SE in the SE and SE+M groups. Cardiac blood was collected to measure S100B levels, and coronal brain sections including the hippocampus were prepared to examine microglial/astrocytic activation and to evaluate neuroinflammation at day 7 of SE. RESULTS: Serum S100B levels, OX42 (+) microglia in CA1, and GFAP (+) astrocytes in both CA1 and dentate gyrus (DG) were higher in the SE+M group than in the C group. Most importantly, highly positive correlations were found between S100B levels and microglial activation in CA1, apart from astrocytic activation in CA1 and DG. Unexpectedly, microglial activation in CA1 and astrocytic activation in DG were also enhanced in the SE+M group compared with the C group. Moreover, M administration reversed the neuronal loss observed in DG during SE. CONCLUSION: These results suggest that serum S100B is a candidate biomarker for monitoring neuroinflammation and that it may also help predict diagnosis and prognosis.


Assuntos
Anti-Inflamatórios/farmacologia , Microglia/metabolismo , Minociclina/farmacologia , Subunidade beta da Proteína Ligante de Cálcio S100/sangue , Estado Epiléptico/sangue , Animais , Astrócitos/efeitos dos fármacos , Biomarcadores/sangue , Convulsivantes/toxicidade , Modelos Animais de Doenças , Hipocampo/efeitos dos fármacos , Hipocampo/metabolismo , Lítio/toxicidade , Masculino , Microglia/efeitos dos fármacos , Pilocarpina/toxicidade , Ratos , Ratos Sprague-Dawley , Estado Epiléptico/induzido quimicamente , Estado Epiléptico/metabolismo , Estado Epiléptico/patologia
3.
Turk J Pediatr ; 61(3): 330-336, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31916709

RESUMO

Kör D, Seker-Yilmaz B, Bulut FD, Kilavuz S, Öktem M, Ceylaner S, Yildizdas D, Önenli-Mungan N. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. Turk J Pediatr 2019; 61: 330-336. Propionic acidemia (PA) is an inherited metabolic disease caused by the deficiency of one of the four biotin-dependent enzymes propionyl-CoA carboxylase (PCC), and is characterized by coma and death in unrecognized patients, additionally late diagnosis leads to severe developmental delay and neurological sequels. Manifestations of PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure. Mutations in PCCA-PCCB genes cause the clinically heterogeneous disease of PA. In this study, we investigate the mutation spectrum of PCCAPCCB genes and phenotypic features of 27 Turkish patients with PA from the South and Southeast parts of Turkey. We report 12 novel PA mutations, five affecting the PCCA gene and 7 affecting the PCCB gene.


Assuntos
Proteínas de Caenorhabditis elegans/genética , Metilmalonil-CoA Descarboxilase/genética , Mutação , Acidemia Propiônica/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Fenótipo , Estudos Retrospectivos , Turquia
4.
J Pediatr Endocrinol Metab ; 31(3): 339-343, 2018 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-29353266

RESUMO

BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile. RESULTS: Twenty-seven mutations were identified. The most commonly found variants were c.1330G>C (p.D444H), c.1595C>T (p.T532M), c.470G>A (p.R157H), and c.198_104delGCGGCTGinsTCC (p.C33Ffs ) with allele frequencies of 0.387, 0.175, 0.165 and 0.049, respectively. Three novel pathogenic and likely pathogenic variants were identified: p.W140* (c.419G>A), p.S319F (c.956C>T) and p.L69Hfs*24 (c.192_193insCATC). We also identified three mutations reported in just one patient in the past (p.V442Sfs*59 [c.1324delG], p.H447R [c.1340A>G] and p.198delV [c.592_594delGTC]). Although all of the patients were asymptomatic under the treatment of biotin, only one patient, who had the novel c.419G>A homozygous mutation became symptomatic during an episode of acute gastroenteritis with a presentation of ketosis and metabolic acidosis. Among the screened patients, 156 had partial and 47 had profound BD. CONCLUSIONS: We determined the mutation spectra of BD from the southeastern part of Turkey. The results of this study add three more mutations to the total number of mutations described as causing BD.


Assuntos
Deficiência de Biotinidase/genética , Biotinidase/genética , Mutação , Biotina/administração & dosagem , Biotinidase/sangue , Deficiência de Biotinidase/tratamento farmacológico , Frequência do Gene , Homozigoto , Humanos , Recém-Nascido , Triagem Neonatal , Turquia
5.
Metab Brain Dis ; 31(5): 1181-3, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27188289

RESUMO

Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione treatment the prognosis improved with reduced rate of complications. "Neurologic crisis" of tyrosinemia type I is a rare complication seen after discontinuation of treatment characterized with anorexia, vomiting, and hyponatremia in the initial phase continuing with paresthesia and paralysis of the extremities and the diaphragm. Here, we report a tyrosinemia type I patient who admitted to the hospital with nonspecific symptoms such as vomiting, anorexia, weakness, and restlessness only after one month discontinuation of nitisone and diagnosed as neurological crisis.


Assuntos
Cicloexanonas/administração & dosagem , Doenças do Sistema Nervoso/sangue , Doenças do Sistema Nervoso/diagnóstico , Nitrobenzoatos/administração & dosagem , Tirosinemias/sangue , Tirosinemias/diagnóstico , Evolução Fatal , Humanos , Lactente , Masculino , Fatores de Tempo , Tirosina/sangue , Tirosinemias/tratamento farmacológico
7.
J Pediatr Endocrinol Metab ; 28(5-6): 669-71, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25381946

RESUMO

BACKGROUND: 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal recessively inherited disease of leucine catabolism. It is the most commonly observed organic acidemia where tandem mass spectrometry can be performed in newborn screening. The clinical phenotypes may differ from neurological involvement in newborns to asymptomatic adults. Diagnosis is made by increased 3-hydroxyisovaleric acid in blood and 3-methylcrotonylglycine in urine. CASE REPORT: We would like to present an interesting case of a 32-year-old asymptomatic mother, who was investigated metabolically and diagnosed with 3-MCC deficiency, after a 7-day-old healthy baby referred to our unit with the preliminary diagnosis of organic academia during her extended newborn screening. RESULTS: All of the metabolic findings of the baby were normal except for very low carnitine levels. Her mother's total and free carnitine levels were also extremely low. Urine organic acid analysis revealed excessively increased 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. Acylcarnitine profile showed markedly elevated C5 hydroxy 3 hydroxyisovalerylcarnitine and decreased C2 acetylcarnitine. In order to confirm the diagnosis of 3-methylcrotonylglycinuria, molecular analysis was done, and IVS3-1G>C/p.T556I compound heterozygote mutation was detected. p.T556I is a novel mutation. CONCLUSION: We would like to emphasize performing extended metabolic investigations in case of suspicion of metabolic disease in order to diagnose metabolic diseases both in babies and in asymptomatic mothers.


Assuntos
Carbono-Carbono Ligases/deficiência , Triagem Neonatal , Distúrbios Congênitos do Ciclo da Ureia/diagnóstico , Adulto , Feminino , Humanos , Recém-Nascido
8.
Turk Pediatri Ars ; 49(2): 111-6, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26078645

RESUMO

AIM: Thyroid diseases related with iodine deficiency are observed commonly in our country and in the world. In this study, we aimed to investigate iodine deficiency in urine and selenium, zinc, copper or molybdenum deficiency which may accompany this in children aged between 6 and 12 years in two schools in the province of Hatay (endemic goitre region). MATERIAL AND METHODS: This study is a case-control field-study in which students aged between 6 and 12 years were included. One hundred fourteen subjects from the village of Tanisma related to the center of our province and 100 subjects from the city center of Hatay (Antakya) were included in the study. Iodine, selenium, zinc, copper and molybdenum levels were measured in the urine samples of the students included in the study. RESULTS: Iodine deficiency was found with a severe (5%), moderate (18.4%) and mild degree (43%), respectively in the village of Tanisma. Mild iodine deficiency (7%) was found in the center of Hatay. No moderate and severe iodine deficiency was found in the control group. A significant difference was found between the groups in terms of urine iodine excretion (p<0.001). A significant correlation was found between the levels of iodine, selenium, zinc and molybdenum (p<0.05). A moderately positive correlation was found between iodine and selenium (p<0.001). A moderately positive correlation was found between iodine and zinc levels (p<0.001) and a weak correlation was found between iodine and molybdenum (p<0.01). No significant correlation was found between iodine level and copper level (p>0.05). CONCLUSIONS: Selenium and zinc deficiency may accompany iodine deficiency. Selenium and zinc deficiency should be considered in individuals who are found to have iodine deficiency especially in endemic goitre regions.

9.
J Paediatr Child Health ; 46(3): 121-4, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20180898

RESUMO

BACKGROUND: Generalised oedema is a frequent finding during neonatal sepsis, but its aetiology remains uncertain. OBJECTIVE: The objective of this study was to measure functional C1 inhibitor (fC1 inh) levels in newborns with culture-proven sepsis, compare the results with age- and gestational age (GA)-matched controls and correlate the results with the clinical course of the patients during infection, with regard to vascular leak and oedema formation. METHODS: Newborns with blood culture-proven sepsis were included and samples for C1 inh levels were obtained before the beginning of antibiotic therapy and on the 3rd day of treatment. Body weight, urine output and other treatment modalities including volume boluses were recorded. Oedema formation as a sign of vascular leak was determined by calculating percent weight change over time. Age- and GA-matched newborns without infection were used as controls. RESULTS: No difference was observed between the patient and the control groups concerning fC1 inh levels. Percent weight change in the patient group was not correlated with the C1 inh levels. CONCLUSION: Despite studies suggesting the role of C1 inhibitor deficiency in vascular leak during sepsis in adults, there is no information in the literature regarding the C1 inh levels of healthy or septic newborns to date. In this study, fC1 inh levels were no different than controls, necessitating the consideration of other factors causing vascular leak and oedema during neonatal sepsis.


Assuntos
Proteínas Inativadoras do Complemento 1/metabolismo , Edema/sangue , Sepse/sangue , Biomarcadores , Estudos de Casos e Controles , Proteínas Inativadoras do Complemento 1/deficiência , Proteína Inibidora do Complemento C1 , Edema/etiologia , Humanos , Recém-Nascido , Sepse/complicações
10.
Hepatogastroenterology ; 53(70): 616-8, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16995474

RESUMO

BACKGROUND/AIMS: The aim of this study was to evaluate the predictive role of the circulating levels of endostatin in gastric cancer patients. METHODOLOGY: This study is a retrospective case-control study. We measured serum endostatin levels of 30 patients aged between 34-83 years with gastric cancer and 30 patients without malignant pathology operated for benign pathologies with age ranging from 18 to 69. RESULTS: Serum levels of endostatin were correlated with the Lauren classification. Significantly higher serum endostatin levels were obtained in Lauren intestinal type tumors than Lauren diffuse type tumors. CONCLUSIONS: These data suggest that serum endostatin levels do not correlate with clinicopathological parameters, except tumor histopathology (according to Lauren classification), in gastric cancer patients.


Assuntos
Inibidores da Angiogênese/sangue , Endostatinas/sangue , Neoplasias Gástricas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neovascularização Patológica , Neoplasias Gástricas/sangue
11.
Hematology ; 10 Suppl 1: 143-50, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16188658

RESUMO

At the end of this presentation the audiences should be able to understand the goal of external quality assessment and definitions used to describe similar functions of terminology. Also they had information about overview of interlaboratory method performance studies in Turkey in Hematology.


Assuntos
Testes Hematológicos/normas , Garantia da Qualidade dos Cuidados de Saúde , Humanos , Laboratórios/normas , Reprodutibilidade dos Testes , Turquia
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