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1.
J Endocrinol Invest ; 42(4): 453-470, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30132287

RESUMO

BACKGROUND: Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are limited and they were conducted on small number of patients. OBJECTIVE: To present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5α-RD2. MATERIALS AND METHODS: Patients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated. RESULTS: A total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were ≥ 8.5 for minipuberty, ≥ 10 for prepuberty, and ≥ 17 for puberty. CONCLUSION: There is no significant genotype-phenotype correlation in 5α-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Di-Hidrotestosterona/sangue , Transtornos do Desenvolvimento Sexual/complicações , Neoplasias dos Genitais Femininos/etiologia , Neoplasias dos Genitais Masculinos/etiologia , Testosterona/sangue , Adolescente , Adulto , Criança , Pré-Escolar , Aberrações Cromossômicas , Transtornos do Desenvolvimento Sexual/metabolismo , Transtornos do Desenvolvimento Sexual/patologia , Feminino , Estudos de Associação Genética , Neoplasias dos Genitais Femininos/metabolismo , Neoplasias dos Genitais Femininos/patologia , Neoplasias dos Genitais Masculinos/metabolismo , Neoplasias dos Genitais Masculinos/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Maturidade Sexual , Turquia , Adulto Jovem
2.
West Indian Med J ; 65(2): 287-290, 2016 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-28358448

RESUMO

Objective: Appendicitis, the most common cause of abdominal pain requiring surgery in children, refers to inflammation of the vermiform appendix. The aetiology of appendicitis is multifactorial, although it is affected by several precursor factors. The purpose of this study was to investigate whether allergic diseases cause a predisposition to appendicitis. Subjects and Methods: One hundred and sixteen patients who underwent surgery for acute appendicitis and who had a diagnosis of acute appendicitis confirmed pathologically, and a control group of 124 individuals of similar ages and genders, were enrolled. The level of inflammation of appendiceal material in cases diagnosed with acute appendicitis was classified pathologically. The skin prick test (SPT) was used to determine allergic sensitization. Results: A significant difference was determined between the patient and control groups in terms of skin prick positivity (p < 0.05). Conclusions: While there are several known factors implicated in the causation of acute appendicitis, the cause cannot be identified in some cases. We think that atopy may also be a risk factor in the development of acute appendicitis.

3.
West Indian Med J ; 65(2): 281-286, 2015 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-26684158

RESUMO

Objective: Clinical and genetic findings of familial Mediterranean fever (FMF) may vary in different populations. Environmental factors may also affect phenotypic features of FMF. In this study, we investigated demographic, clinical and mutational features of FMF patients treated in a single reference hospital in Turkey. Subjects and Methods: One hundred and ninety-seven patients were included. The 11 mutations most frequently seen in FMF were investigated in these patients. Patients were assessed as homozygous, heterozygous, compound heterozygous or non-mutation bearing. Clinical and laboratory examinations in the attack and attack-free periods were recorded. A disease severity score was calculated for each patient. Results: One hundred patients were female and 97 male. The most commonly seen mutations in our region was M694V (51.7%). The most frequent clinical findings in our patients was gastric pain (90.1%), followed by fever (82.2%). The highest disease severity score was determined in patients with homozygous M694V. Sedimentation values were significantly high in patients with homozygous M694V mutation, while no statistically significant difference was determined among other acute phase reactants and haemoglobin and leukocyte values. Conclusion: Changes in acute phase reactants in attack and attack-free periods are used as diagnostic tools in FMF. Severity and frequency of attacks are clearly correlated with mutations. However, the fact that the clinical course can differ even in individuals with mutations reveals the importance of environmental factors.

4.
West Indian Med J ; 64(2): 154-6, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26360672

RESUMO

Diaphragmatic hernia originates from insufficient closure of the pericardioperitoneal canals and pleuroperitoneal membranes. It is seen in one in every 4000 births. The general finding in the newborn period is respiratory difficulty. Mortality is 40-50%. There may be other accompanying organ anomalies. Congenital diaphragmatic hernias diagnosed after the newborn period are known as late-presenting congenital diaphragmatic hernias. This group is seen at a level of 5-20% and poses difficulty in diagnosis. This report describes a case under observation and receiving treatment for gastrointestinal haemorrhage, diagnosed as Bochdalek hernia.

5.
West Indian Med J ; 64(2): 104-7, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26360682

RESUMO

AIM: Leuprolide acetate is a gonadotropin-releasing hormone (GnRH) analogue frequently used in the treatment of central precocious puberty. Research is currently taking place into its effects on endocrine systems. The aim of this study is to investigate the effect of leuprolide acetate on vitamin D and bone mineral density. METHODS: Twenty-three children diagnosed with central precocious puberty and receiving leuprolide acetate therapy for at least 12 months, and a control group of 17 healthy children were enrolled. In the study group, calcium, phosphorus, alkaline phosphatase, parathormone and 25-hydroxy vitamin D levels and bone mineral density were measured. The results were compared with those of the control group. RESULTS: 25-Hydroxy vitamin D levels in the study and control groups were 15.17 ± 7 mg/dL and 22.2 ± 6.1 mg/dL, respectively (p < 0.05). In terms of bone mineral density, osteopenia was determined in 13 (56.5%) patients in the study group and osteoporosis in one (4.3%), while osteopenia was identified in seven patients in the control group, with no osteoporosis being identified (p > 0.05). CONCLUSION: Gonadotropin-releasing hormone agonists may have an adverse effect on bone health. They may exhibit these effects by impacting on vitamin D levels. These levels should be periodically monitored in patients receiving treatment, and vitamin D support should be given in cases where the deficiency is identified.

6.
J Endocrinol Invest ; 38(9): 987-98, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25847324

RESUMO

PURPOSE: The aim of this study is to show the effect of a new mechanism on endothelin (ET) receptors in the physiopathology of diabetes-related pulmonary injury. We tested the hypothesis that dual ET-1 receptor antagonism via bosentan can reverse diabetes-induced lung injury. METHODS: The rats (24 male) were separated into four groups: group 1 (HEALTHY): Control group; group 2 (DM): Streptozotocin 60 mg/kg (i.p.); group 3 (DM + BOS-1): Diabetes + bosentan 50 mg/kg per-os; group 4 (DM + BOS-2): Diabetes + bosentan 100 mg/kg per-os. The bosentan treatment was initiated immediately after the onset of STZ-induced diabetes and continued for 6 weeks. RESULTS: In the treatment group, SOD activity was significantly increased, although GSH and MDA levels and TNF-α and TGF-ß gene expression were decreased. Bosentan 50 mg/kg and bosentan 100 mg/kg showed a significantly down-regulatory effect on ET-1, ET-A, and ET-B mRNA expression. CONCLUSIONS: In conclusion, increased endothelin levels in the lung associated with diabetes may be one cause of endothelial dysfunction, cytokine increase, and oxidant/antioxidant imbalance in the pathogenesis of complications that may develop during diabetes. With its multiple effects, bosentan therapy may be an effective option against complications that may develop in association with diabetes.


Assuntos
Lesão Pulmonar Aguda/tratamento farmacológico , Diabetes Mellitus Experimental/complicações , Antagonistas dos Receptores de Endotelina/uso terapêutico , Pulmão/metabolismo , Sulfonamidas/uso terapêutico , Lesão Pulmonar Aguda/etiologia , Lesão Pulmonar Aguda/metabolismo , Animais , Bosentana , Diabetes Mellitus Experimental/metabolismo , Antagonistas dos Receptores de Endotelina/farmacologia , Glutationa/metabolismo , Pulmão/efeitos dos fármacos , Masculino , Malondialdeído/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Ratos , Ratos Wistar , Sulfonamidas/farmacologia , Superóxido Dismutase/metabolismo , Fator de Crescimento Transformador beta/metabolismo , Fator de Necrose Tumoral alfa/metabolismo
7.
Genet Couns ; 26(4): 415-23, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26852512

RESUMO

Warburg Micro Syndrome (WARBM, MIM 600118) is a rare, severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataract, cortical dysplasia, corpus callosum hypoplasia, intellectual disability, hypotonia and hypogonadism. RABS, small G proteins belonging to the RAS superfamily, are master regulators of vesicle trafficking in the cell. The identification of mutations in the RAB3GAP1 and RAB3GAP2 genes, which together encode the RAB3GTPase-activating protein, a key regulator in calcium-mediated exocytosis of neurotransmitters and hormones, has underpinned abnormal development of the brain, eye and genitalia as cardinal features of this syndrome. More than 100 patients have been reported with WARBM, with mutations in the RABGAP1, RABGAP2, RAB18 and TBC1D20 genes. The objective of the study was to describe the recurrent RAB3GAP1 mutations and compare the clinical features of the patients with WARBM in the Turkish population. Here we report two brothers with Warburg Micro Syndrome 1 from a non-consanguineous Turkish family with clinical features similar to those previously reported in Turkish patients with RAB3GAP1 mutations. We found that the c.748+1G>A splice-site mutation in RAB3GAP1 intron 8 is common and has so far only been detected in patients of Turkish ethnic origin. Although one of our patients has a distal extra crease on the 4th finger and another has nephrolithiasis, there does not appear to be any specific phenotypic findings associated with this mutation.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Catarata/congênito , Córnea/anormalidades , Hipogonadismo/diagnóstico , Hipogonadismo/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Microcefalia/diagnóstico , Microcefalia/genética , Atrofia Óptica/diagnóstico , Atrofia Óptica/genética , Proteínas rab3 de Ligação ao GTP/genética , Encéfalo/patologia , Catarata/diagnóstico , Catarata/genética , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Mutação , Turquia
8.
West Indian Med J ; 63(2): 206-7, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25303265

RESUMO

Epstein-Barr virus (EBV) infection causes a wide spectrum of illness in humans including subclinical infection, infectious mononucleosis, and is associated with some malignancies. This report presents the clinical findings of an unusual case of EBV encephalitis in a 10-month old infant who presented with a febrile infection and seizures. The clinical manifestations, serologic study and a dynamic change of EBV DNA in cerebrospinal fluid with spontaneous recovery confirmed the diagnosis of EBV infection of the nervous system.

9.
Braz J Med Biol Res ; 47(4): 349-54, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24714817

RESUMO

The purpose of this study was to investigate the effect of supplementary vitamin D therapy in addition to amitriptyline on the frequency of migraine attacks in pediatric migraine patients. Fifty-three children 8-16 years of age and diagnosed with migraine following the International Headache Society 2005 definition, which includes childhood criteria, were enrolled. Patients were classified into four groups on the basis of their 25-hydroxyvitamin D [25(OH)D] levels. Group 1 had normal 25(OH)D levels and received amitriptyline therapy alone; group 2 had normal 25(OH)D levels and received vitamin D supplementation (400 IU/day) plus amitriptyline; group 3 had mildly deficient 25(OH)D levels and received amitriptyline plus vitamin D (800 IU/day); and group 4 had severely deficient 25(OH)D levels and was given amitriptyline plus vitamin D (5000 IU/day). All groups were monitored for 6 months, and the number of migraine attacks before and during treatment was determined. Calcium, phosphorus alkaline phosphatase, parathormone, and 25(OH)D levels were also determined before and during treatment. Results were compared between the groups. Data obtained from the groups were analyzed using one-way analysis of variance. The number of pretreatment attacks in groups 1 to 4 was 7 ± 0.12, 6.8 ± 0.2, 7.3 ± 0.4, and 7.2 ± 0.3 for 6 months, respectively (all P > 0.05). The number of attacks during treatment was 3 ± 0.25, 1.76 ± 0.37 (P < 0.05), 2.14 ± 0.29 (P < 0.05), and 1.15 ± 0.15 (P < 0.05), respectively. No statistically significant differences in calcium, phosphorus, alkaline phosphatase, or parathormone levels were observed (P > 0.05). Vitamin D given in addition to anti-migraine treatment reduced the number of migraine attacks.


Assuntos
Amitriptilina/uso terapêutico , Analgésicos não Entorpecentes/uso terapêutico , Transtornos de Enxaqueca/tratamento farmacológico , Vitamina D/uso terapêutico , Adolescente , Fosfatase Alcalina/sangue , Análise de Variância , Cálcio/sangue , Distribuição de Qui-Quadrado , Criança , Combinação de Medicamentos , Feminino , Humanos , Masculino , Ensaios Clínicos Controlados não Aleatórios como Assunto/estatística & dados numéricos , Hormônio Paratireóideo/sangue , Estudos Prospectivos , Vitamina D/sangue
10.
Braz. j. med. biol. res ; 47(4): 349-354, 8/4/2014. tab
Artigo em Inglês | LILACS | ID: lil-705761

RESUMO

The purpose of this study was to investigate the effect of supplementary vitamin D therapy in addition to amitriptyline on the frequency of migraine attacks in pediatric migraine patients. Fifty-three children 8-16 years of age and diagnosed with migraine following the International Headache Society 2005 definition, which includes childhood criteria, were enrolled. Patients were classified into four groups on the basis of their 25-hydroxyvitamin D [25(OH)D] levels. Group 1 had normal 25(OH)D levels and received amitriptyline therapy alone; group 2 had normal 25(OH)D levels and received vitamin D supplementation (400 IU/day) plus amitriptyline; group 3 had mildly deficient 25(OH)D levels and received amitriptyline plus vitamin D (800 IU/day); and group 4 had severely deficient 25(OH)D levels and was given amitriptyline plus vitamin D (5000 IU/day). All groups were monitored for 6 months, and the number of migraine attacks before and during treatment was determined. Calcium, phosphorus alkaline phosphatase, parathormone, and 25(OH)D levels were also determined before and during treatment. Results were compared between the groups. Data obtained from the groups were analyzed using one-way analysis of variance. The number of pretreatment attacks in groups 1 to 4 was 7±0.12, 6.8±0.2, 7.3±0.4, and 7.2±0.3 for 6 months, respectively (all P>0.05). The number of attacks during treatment was 3±0.25, 1.76±0.37 (P<0.05), 2.14±0.29 (P<0.05), and 1.15±0.15 (P<0.05), respectively. No statistically significant differences in calcium, phosphorus, alkaline phosphatase, or parathormone levels were observed (P>0.05). Vitamin D given in addition to anti-migraine treatment reduced the number of migraine attacks.


Assuntos
Adolescente , Criança , Feminino , Humanos , Masculino , Amitriptilina/uso terapêutico , Analgésicos não Entorpecentes/uso terapêutico , Transtornos de Enxaqueca/tratamento farmacológico , Vitamina D/uso terapêutico , Análise de Variância , Fosfatase Alcalina/sangue , Distribuição de Qui-Quadrado , Cálcio/sangue , Combinação de Medicamentos , Ensaios Clínicos Controlados não Aleatórios como Assunto/estatística & dados numéricos , Estudos Prospectivos , Hormônio Paratireóideo/sangue , Vitamina D/sangue
11.
Hum Exp Toxicol ; 33(1): 14-21, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23632005

RESUMO

This study investigated the effects of thiamine pyrophosphate (TPP) at dosages of 10 and 20 mg/kg on oxidative stress induced in rat brain tissue with cisplatin and compared this with thiamine. Cisplatin neurotoxicity represents one of the main restrictions on the drug being given in effective doses. Oxidative stress is considered responsible for cisplatin toxicity. Our results showed that cisplatin increased the levels of oxidant parameters such as lipid peroxidation (thio barbituric acid reactive substance (TBARS)) and myeloperoxidase (MPO) in brain tissue and suppressed the effects of antioxidants such as total glutathione (GSH) and superoxide dismutase (SOD). TPP, especially at a dosage of 20 mg/kg, significantly reduced TBARS and MPO levels that increase with cisplatin administration compared with the thiamine group, while TPP significantly increases GSH and SOD levels. In addition, the level of 8-Gua (guanine), a product of DNA damage, was 1.7 ± 0.12 8-hydroxyl guanine (8-OH Gua)/105 Gua in brain tissue in the control group receiving cisplatin, compared with 0.97 ± 0.03 8-OH Gua/105 Gua in the thiamine pyrophosphate (20 mg/kg) group and 1.55 ± 0.11 8-OH Gua/105 Gua in the thiamine (20 mg/kg) group. These results show that thiamine pyrophosphate significantly prevents oxidative damage induced by cisplatin in brain tissue, while the protective effect of thiamine is insignificant.


Assuntos
Antineoplásicos/efeitos adversos , Cérebro/metabolismo , Cisplatino/efeitos adversos , Fármacos Neuroprotetores/uso terapêutico , Síndromes Neurotóxicas/prevenção & controle , Estresse Oxidativo , Tiamina Pirofosfato/uso terapêutico , Animais , Antineoplásicos/administração & dosagem , Antineoplásicos/antagonistas & inibidores , Cérebro/efeitos dos fármacos , Cérebro/enzimologia , Cisplatino/administração & dosagem , Cisplatino/antagonistas & inibidores , Dano ao DNA , Injeções Intraperitoneais , Peroxidação de Lipídeos/efeitos dos fármacos , Masculino , Proteínas do Tecido Nervoso/agonistas , Proteínas do Tecido Nervoso/antagonistas & inibidores , Proteínas do Tecido Nervoso/metabolismo , Neurônios/efeitos dos fármacos , Neurônios/enzimologia , Neurônios/metabolismo , Fármacos Neuroprotetores/administração & dosagem , Síndromes Neurotóxicas/metabolismo , Oxirredutases/antagonistas & inibidores , Oxirredutases/química , Oxirredutases/metabolismo , Distribuição Aleatória , Ratos , Ratos Wistar , Tiamina/administração & dosagem , Tiamina/uso terapêutico , Tiamina Pirofosfato/administração & dosagem , Complexo Vitamínico B/administração & dosagem , Complexo Vitamínico B/uso terapêutico
12.
West Indian Med J ; 63(5): 470-3, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25781285

RESUMO

OBJECTIVE: Coeliac disease is a chronic disease and is common all over the world. It has many other associated systemic side effects. This study investigated the effect of paternal and maternal silent coeliac disease on birthweight and gestational age in newborns. METHODS: The study group consisted of 81 newborns who were hospitalized for prematurity or term-intrauterine growth retardation. The parents of premature and/or small for gestational age babies born with coeliac disease-specific antigens were investigated. RESULTS: The differences were not statistically significant in fathers' tissue transglutaminase levels between premature appropriate gestational age, premature small gestational age and term small gestational age infants (p > 0.05), but statistically significant in mothers (p < 0.05). CONCLUSIONS: Silent coeliac disease may occur in parents, especially in mothers of preterm and small for gestational age infants, even in the absence of apparent clinical indications.

13.
Genet Couns ; 24(3): 307-12, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24341146

RESUMO

We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anoftalmia/diagnóstico , Malformação de Arnold-Chiari/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Perda Auditiva Condutiva/diagnóstico , Hipotireoidismo/diagnóstico , Pré-Escolar , Humanos , Hipotireoidismo/tratamento farmacológico , Masculino , Tiroxina/uso terapêutico
15.
17.
Braz J Med Biol Res ; 46(10): 904-8, 2013 10.
Artigo em Inglês | MEDLINE | ID: mdl-24141617

RESUMO

Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.


Assuntos
Proteínas da Fase Aguda/análise , Febre Familiar do Mediterrâneo/genética , Mutação/genética , Adolescente , Biomarcadores/sangue , Sedimentação Sanguínea , Proteína C-Reativa/análise , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/sangue , Feminino , Fibrinogênio/análise , Heterozigoto , Homozigoto , Humanos , Lactente , Contagem de Leucócitos , Masculino , Índice de Gravidade de Doença
18.
Braz. j. med. biol. res ; 46(10): 904-908, 24/set. 2013. tab, graf
Artigo em Inglês | LILACS | ID: lil-688559

RESUMO

Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.


Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Proteínas da Fase Aguda/análise , Febre Familiar do Mediterrâneo/genética , Mutação/genética , Sedimentação Sanguínea , Biomarcadores/sangue , Proteína C-Reativa/análise , Febre Familiar do Mediterrâneo/sangue , Fibrinogênio/análise , Heterozigoto , Homozigoto , Contagem de Leucócitos , Índice de Gravidade de Doença
19.
Eur Rev Med Pharmacol Sci ; 17(3): 375-8, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23426541

RESUMO

BACKGROUND: The pathogenesis of Familial Mediterranean Fever (FMF) is not clearly elucidated. It emerges as a result of triggering of the several environmental factors at the people who are genetically vulnerable. OBJECTIVES: To evaluate the anti-oxidant enzymes at the remission period of familial mediterranean fever (FMF). MATERIALS AND METHODS: Study group is consisted of 80 patients between the age of 2 and 16 years old who are routinely followed up. The control group is consisted of 80 healthy children whose physical examination is normal, and whose demographic findings are similar to the study group. Paraoxonase 1 (PON1) and arylesterase (ARE) levels are measured at both study and control group. RESULTS: The difference between the levels of ARE and PON1 are statistically significant between the FMF and control group (p = 0.007, p = 0.001). According to the weight scoring, ARE and PON1 levels of light cases are higher versus the levels of moderate cases (p < 0.01). CONCLUSIONS: Endogenous anti-oxidants Paraoxonase 1 and arylesterase levels are important in evaluating the inflammation at the remission period of FMF.


Assuntos
Antioxidantes/metabolismo , Arildialquilfosfatase/metabolismo , Hidrolases de Éster Carboxílico/metabolismo , Febre Familiar do Mediterrâneo/fisiopatologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estresse Oxidativo , Índice de Gravidade de Doença
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