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1.
Bratisl Lek Listy ; 123(1): 72, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34967662

RESUMO

No abstract Keywords.


Assuntos
COVID-19 , Humanos , SARS-CoV-2
2.
Bratisl Lek Listy ; 122(12): 918, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34904855

RESUMO

No abstract Keywords.


Assuntos
COVID-19 , Islamismo , Humanos , Pandemias/prevenção & controle , SARS-CoV-2
3.
Bratisl Lek Listy ; 122(11): 826, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34672676

RESUMO

No abstract Keywords.


Assuntos
COVID-19 , Medo , Humanos , Pandemias , SARS-CoV-2
5.
Bratisl Lek Listy ; 113(7): 424-30, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22794518

RESUMO

BACKGROUND: Brucellosis is an endemic disease in many areas throughout the world. Central nervous system involvement is a serious complication of brucellosis with a ratio of 4-11% of all patients. AIM: to describe our experience in diagnosis, treatment, and outcome of 25 pediatric patients with neurobrucellosis. PATIENTS AND METHODS: This study included a review of medical records of patients who were diagnosed with neurobrucellosis between March 2001 and March 2009. Patients who had both clinical findings consistent with neurobrucellosis and positive microbiologic/serologic examinations of CSF with abnormal CSF findings were enrolled in the study. RESULTS: The study included 25 patients between 1 and 15 years of age (mean 8.8 years), while 15 were males and 10 were females. Most of the patients (52 %) were in the age group of 5-9 years with male predominance. The distribution of cases showed density in June and February. The most commonly presented complaints were headache, fever and sweating while the most commonly observed findings were fever and meningeal irritation signs. All patients had positive cerebrospinal fluid agglutination test for brucellosis. Four different regimens were used based on ceftriaxone, doxycycline, cotrimoxasole, streptomycin, and rifampicin. One patient died, three patients were discharged with sequel, and the remaining patients (84 %) were discharged with full recovery. CONCLUSION: Clinicians, especially those providing health services in endemic areas like Turkey, should keep in mind that neurobrucellosis can be involved in patients with unexplained symptoms like memory impairment or in patients diagnosed with meningitis (Tab. 5, Fig, 2, Ref. 39).


Assuntos
Brucelose/diagnóstico , Infecções Bacterianas do Sistema Nervoso Central/diagnóstico , Adolescente , Brucelose/tratamento farmacológico , Infecções Bacterianas do Sistema Nervoso Central/tratamento farmacológico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
6.
Bratisl Lek Listy ; 113(7): 421-3, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22794517

RESUMO

Febrile seizures (FS) are the most common cause of seizures in children. The exact etiopathogenesis is unknown but involves factors like genetic predisposition and alterations in the levels of neurotransmitters and some trace elements. The study includes 48 consecutive children with FS, and 55 healthy age matched control subjects. Calcium, magnesium and potassium concentrations in the febrile study group were lower than in the control group (p<0.05). Iron and Gallium levels in the study group were lower than in the control group (p<0.01). Serum Selenium (p<0.001), Zinc (p<0.001) and Strontium (p0.05). The aim of the present prospective analytical case-control study was to determine whether there was any change in element levels in children with FS (Ref. 33).


Assuntos
Convulsões Febris/sangue , Oligoelementos/sangue , Cálcio/sangue , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Potássio/sangue
7.
Genet Couns ; 22(3): 281-5, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22029169

RESUMO

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly and hemophagocytosis. The presence of central nervous system involvement has a profound impact on the prognosis, treatment, and clinical outcome of the disease. Therefore, the identification of the clinical manifestations of the disease and the characterization of the accompanying neurological symptoms are of prime importance for the rapid diagnosis and subsequent clinical management of the disease. Herein, we report a case of FHL with homozygosity for perforin gene mutation, who presented with central nervous system involvement in the absence of systemic findings.


Assuntos
Doenças do Sistema Nervoso Central/genética , Homozigoto , Linfo-Histiocitose Hemofagocítica/genética , Mutação de Sentido Incorreto , Perforina/genética , Criança , Evolução Fatal , Feminino , Humanos , Turquia
8.
Bratisl Lek Listy ; 112(5): 269-72, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21682081

RESUMO

Acute motor axonal neuropathy (AMAN) is a form of Guillain Barré Syndrome (GBS) seen in summer months in Northern China to cause epidemics. This form of the disease, which is also sporadically observed in other countries, constitutes less than 5% of GBS in Western countries. It usually develops with motor findings. No sensory findings are observed. In some of the cases, the severe impairments in tissues improve however slowly and inadequately. In the motor conduction studies of cases with AMAN, motor action potential values are lowered. On needle electromyography (EMG), motor unit potential (MUP) activity is diminished with spontaneous denervation findings. Investigations were conducted on nerve conduction of patients with GBS aged from 1 to 77 years. AMAN was detected in 25 of these patients. In our investigation, AMAN as a GBS variant was detected in 39.7% of the patients. The conduction velocities of motor nerves were in normal ranges whereas combined muscle action potentials were significantly lower. No F response could be obtained. Although AMAN is a rare variant of GBS and shows different clinical courses, it has been brought under intense scrutiny since there is high prevalance of acute inflammatory neuropathies in our region (Tab. 1, Ref. 7).


Assuntos
Síndrome de Guillain-Barré/diagnóstico , Potenciais de Ação , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Eletromiografia , Feminino , Síndrome de Guillain-Barré/epidemiologia , Síndrome de Guillain-Barré/fisiopatologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Condução Nervosa , Turquia/epidemiologia , Adulto Jovem
9.
Genet Couns ; 22(1): 75-8, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21614992

RESUMO

SUMMARY: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays.


Assuntos
Síndromes Miastênicas Congênitas/diagnóstico , Autoanticorpos/sangue , Inibidores da Colinesterase/uso terapêutico , Consanguinidade , Eletromiografia , Humanos , Lactente , Masculino , Síndromes Miastênicas Congênitas/tratamento farmacológico , Síndromes Miastênicas Congênitas/genética , Brometo de Piridostigmina/uso terapêutico , Receptores Colinérgicos/imunologia , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/tratamento farmacológico , Insuficiência Respiratória/genética
10.
Bratisl Lek Listy ; 112(2): 97-8, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21456510

RESUMO

A variety of diseases, hereditary conditions, toxins and drugs may cause thrombocytopenia. Thrombocytopenia induced by ceftriaxone has been rarely reported. In this case, ceftriaxone-induced thrombocytopenia is presented in a 2-year-old girl due to rare presentation (Ref. 10). Full Text in free PDF www.bmj.sk.


Assuntos
Antibacterianos/efeitos adversos , Ceftriaxona/efeitos adversos , Trombocitopenia/induzido quimicamente , Pré-Escolar , Feminino , Humanos
11.
Int J Neurosci ; 119(12): 2250-6, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19916853

RESUMO

The hospital records of 30 infants with a diagnosis of intracranial hemorrhage (ICH) due to late onset of vitamin K deficiency, seen during a 5-year period (2001-2005) were retrospectively evaluated. Signs and symptoms of the patients were convulsions (80%), poor sucking (50%), irritability (40%), vomiting (47%), acute diarrhea (33%), and fever (40%). On physical examination there were bulging or full fontanel in 19 patients (63%), collapsed fontanel in one (3%), diminished or absent neonatal reflexes in 11 (37%), pallor in 14 (47%), and cyanosis in one (3%) patient. Gastrointestinal disorder, skin hemorrhagic findings, and epistaxis each were noted in two (7%) patients. All the infants had prolonged prothrombin time (PT) and seven had prolonged activated partial thromboplastin time (APTT), both of which were corrected by the administration of vitamin K. All the infants had ICH, with the most common being intraparenchymal hemorrhage, followed by multiple type ICH (27%). Neurosurgical intervention was performed in five patients (17%). The overall case fatality rate was 33%. In conclusion, we would like to stress that ICH due to vitamin K deficiency in infants is still an important health problem in Turkey resulting in high mortality rate.


Assuntos
Hemorragias Intracranianas/etiologia , Sangramento por Deficiência de Vitamina K/complicações , Deficiência de Vitamina K/complicações , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encéfalo/cirurgia , Feminino , Humanos , Lactente , Hemorragias Intracranianas/patologia , Hemorragias Intracranianas/terapia , Masculino , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Turquia , Deficiência de Vitamina K/patologia , Deficiência de Vitamina K/terapia , Sangramento por Deficiência de Vitamina K/patologia , Sangramento por Deficiência de Vitamina K/terapia
12.
Genet Couns ; 20(3): 207-14, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19852426

RESUMO

UNLABELLED: The frequency of consanguineous marriage in Eastern Turkey: OBJECTIVE: The rate of consanguineous marriage (CM) varies depended on different factors such as race, characteristics of population, and religion and moral features in different countries. Gene frequency and genetic structure are changed by CMs. The aim of the present study is to assess the prevalence of CM and its effects on miscarriage, stillbirth, congenital malformation and ratio of newborn death. METHODS: This study was performed in Van region, Eastern Turkey, between September 2005 and April 2006. A total of 650 families from 24 districts chosen in accordance with the number of inhabitants were included in this study. First cousin marriages were accepted as a first degree CMs, sesquialter and second cousin marriages as second degree and marriages between distant relatives were accepted as a third degree CM. Monthly income of the families was classified in accordance with minimum wage determined by government. RESULTS: Of all families, 224 (34.4%) had CM, and 168 (75%) had first-degree consanguinity. A lower CM rate was found in mothers who graduated from secondary school or upgrading (p < 0.01). However, no relationship was found between CM and fathers' education level. While a low CM rate was found in families who had two or less children (p < 0.01), high rate was observed in families who had five or more children. In addition, a high rate of miscarriage, stillbirth and mental-motor retardation was found in families with CM (p < 0.05). The rate of child mortality between the aged 0-2 years was found to be higher in families with CM (p < 0.01). The higher CM rate was observed in families who married due to pressure or insistence of their families than married voluntarily (p < 0.05). CONCLUSION: Our study showed that CM rate was very high, 34.4%, in our region Eastern Turkey.


Assuntos
Aborto Espontâneo/genética , Aborto Espontâneo/mortalidade , Anormalidades Congênitas/genética , Anormalidades Congênitas/mortalidade , Consanguinidade , Países em Desenvolvimento/estatística & dados numéricos , Mortalidade Infantil , Deficiência Intelectual/genética , Deficiência Intelectual/mortalidade , Natimorto/epidemiologia , Natimorto/genética , Adulto , Pré-Escolar , Estudos Transversais , Escolaridade , Feminino , Frequência do Gene/genética , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Idade Materna , Pessoa de Meia-Idade , Gravidez , Fatores de Risco , Fatores Socioeconômicos , Turquia , Adulto Jovem
13.
Genet Couns ; 20(3): 255-60, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19852432

RESUMO

Rubinstein-Taybi syndrome (RTS) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is characterized by mental retardation, growth retardation, a particular dysmorphology and, in a subset of cases, immunodeficiency. RTS is typically caused by CREBBP deficiency, and heterozygous mutation or deletion of the CREBBP gene has been identified in 60-70% of patients. The inheritance is autosomal dominant but reports of vertical transmission are exceedingly rare; near-all cases are caused by de novo mutations. Here we present an 8-month-old boy with varicella meningoencephalitis, RTS, and a de novo deletion of the CREBBP gene of two base pairs at position 201-202 in exon 2, c. 201 202delT. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS.


Assuntos
Proteína de Ligação a CREB/genética , Deleção Cromossômica , Encefalite por Varicela Zoster/genética , Síndrome de Rubinstein-Taybi/genética , Pareamento de Bases , Mapeamento Cromossômico , Análise Mutacional de DNA , Proteína p300 Associada a E1A/genética , Encefalite por Varicela Zoster/diagnóstico , Éxons , Triagem de Portadores Genéticos , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Síndrome de Rubinstein-Taybi/diagnóstico
15.
J Int Med Res ; 37(3): 828-34, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19589266

RESUMO

The aetiology of subacute sclerosing panencephalitis (SSPE) remains to be fully elucidated, although it follows infection with a hypermutant defective M-protein measles virus. This study analysed peripheral blood lymphocyte subgroups to determine their role in the pathophysiology of SSPE. It included 22 children with SSPE aged 2 - 15 years (patient group) and 22 age- and gender-matched healthy children (control group). In children < 6 years old, there were no statistically significant differences between the two groups in the proportions of lymphocytes expressing the surface markers CD3, CD8, CD19 or CD16/56, or in CD4/CD8 ratio. The proportion of CD4(+) lymphocytes in SSPE patients < 6 years of age was significantly lower compared with the control group. In children >or= 6 years old, there were no significant differences in the lymphocyte subgroups. In conclusion, these findings suggest that a low CD4(+) lymphocyte count might be responsible for SSPE in younger children.


Assuntos
Subpopulações de Linfócitos/imunologia , Panencefalite Esclerosante Subaguda/imunologia , Adolescente , Anticorpos/imunologia , Antígenos de Superfície/imunologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino
16.
J Trop Pediatr ; 54(5): 294-9, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18304952

RESUMO

This study included 40 children, who were diagnosed with pneumonia and pulmonary hypertension (from the radiographic and clinical features), was performed at Yuzuncu Yil University Faculty of Medicine, Department of Pediatrics, from September 2003 to July 2005. Patients who had pneumonia and congenital heart disease or systemic hypertension or renal and liver disease together were excluded from the study. Blood gas analysis and oxygen concentration, measured with pulse oximetry, were performed in all patients. Besides chest X-ray, electrocardiography and echocardiographic search was also carried out. Echocardiographic examination was performed by using M mode, two-dimensional echocardiography and colored Doppler sonotron Vingmed CFM 725. At echocardiographic examination, pulmonary hypertension is defined as above 35 mmHg of pulmonary artery pressure. For echocardiographic examination, patients with pulmonary hypertension were divided into two groups. Captopril (2 mg/kg/day, three doses a day) and nifedipine (0.5 mg/kg/day, three doses a day) were given to the first and the second group, respectively. Echocardiography was performed daily until normal pulmonary artery pressure was achieved. At the beginning of the treatment, the patients were treated with double antibiotics and antibiotic change was carried out in needed cases at the follow up. Digoxin was administered to the cases of respiratory infection with heart failure.


Assuntos
Anti-Hipertensivos/uso terapêutico , Broncopneumonia/complicações , Broncopneumonia/tratamento farmacológico , Captopril/uso terapêutico , Hipertensão Pulmonar/tratamento farmacológico , Hipertensão Pulmonar/etiologia , Nifedipino/uso terapêutico , Vasodilatadores/uso terapêutico , Gasometria , Broncopneumonia/diagnóstico , Broncopneumonia/fisiopatologia , Pré-Escolar , Quimioterapia Combinada , Eletrocardiografia , Feminino , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/fisiopatologia , Lactente , Recém-Nascido , Masculino , Oximetria , Estudos Retrospectivos , Resultado do Tratamento
17.
Med J Malaysia ; 60(1): 91-3, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16250288

RESUMO

In this article, we present an 18-month-old girl with acute iron poisoning who died from acute respiratory distress syndrome due to overdose of desferrioxamine. Our purpose is to emphasize the importance of close follow-up children with acute iron poisoning for desferrioxamine toxicity.


Assuntos
Desferroxamina/intoxicação , Síndrome do Desconforto Respiratório/induzido quimicamente , Sideróforos/intoxicação , Overdose de Drogas/complicações , Feminino , Humanos , Lactente
19.
Genet Couns ; 15(3): 357-61, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15517829

RESUMO

We report a 26-month-old boy with Angelman syndrome associated with Lennox-Gastaut syndrome, who developed a rash and a persistent toxic hepatitis after lamotrigine was added to valproate therapy. The patient had typical findings of both Angelman and Lennox-Gastaut syndromes. Chromosome analysis performing by FISH analysis showed a deletion in chromosome 15 (q11.2 q11.2). Although some cases of Angelman syndrome associated with Lennox-Gastaut syndrome were reported in the literature, valproate and/or lamotrigine induced toxic hepatitis in Angelman syndrome has hitherto never been described. We conclude that VPA and LTG combination should be given with great caution or avoided in patients with Angelman syndrome.


Assuntos
Síndrome de Angelman/complicações , Doença Hepática Induzida por Substâncias e Drogas/complicações , Epilepsia/classificação , Epilepsia/complicações , Síndrome de Angelman/genética , Doença Hepática Induzida por Substâncias e Drogas/genética , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Epilepsia/genética , Humanos , Masculino , Fenótipo , Síndrome
20.
Acta Neurol Belg ; 104(3): 114-6, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15508265

RESUMO

Although central nervous system complications such as stroke, encephalopathy and meningitis are commonly described in Staphylococcus aureus endocarditis, peripheral nervous system involvement is rarely reported in the literature. In this article we report on a 13-year-old boy with infective endocarditis caused by Staphylococcus aureus in whom severe polyneuropathy developed during hospitalization. To the best of our knowledge this is the first child case with infective endocarditis associated with peripheral polyneuropathy in the literature.


Assuntos
Endocardite Bacteriana/complicações , Endocardite Bacteriana/diagnóstico , Polineuropatias/diagnóstico , Polineuropatias/etiologia , Infecções Estafilocócicas/complicações , Infecções Estafilocócicas/diagnóstico , Staphylococcus aureus , Adolescente , Endocardite Bacteriana/microbiologia , Humanos , Masculino , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/microbiologia , Polineuropatias/microbiologia
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