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1.
Med Sci Monit ; 30: e943739, 2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38896554

RESUMO

BACKGROUND Carbon monoxide (CO) is a poisonous gas and causes tissue damage through oxidative stress. We aimed to investigate the protective value of curcumin in CO poisoning. MATERIAL AND METHODS Twenty-four female Spraque Dawley rats were divided into 4 subgroups: controls (n=6), curcumin group (n=6), CO group (n=6), and curcumin+CO group (n=6). The experimental group was exposed to 3 L/min of CO gas at 3000 ppm. Curcumin was administered intraperitoneally at a dosage of 50 mg/kg. Hippocampal tissues were removed and separated for biochemical and immunohistochemical analysis. Tissue malondialdehyde (MDA) levels, nitric oxide (NO) levels, and superoxide dismutase (SOD) and catalase (CAT) activities were assayed spectrophotometrically, and serum asymmetric dimethylarginine (ADMA) were measured using the ELISA technique. Tissue Bcl-2 levels were detected by the immunohistochemistry method. RESULTS Tissue CAT and SOD activities and NO levels were significantly lower, and MDA and serum ADMA levels were higher in the CO group than in the control group (P<0.001). The curcumin+CO group had higher CAT activities (P=0.007) and lower MDA than the CO group (P<0.001) and higher ADMA levels than the control group (P=0.023). However, there was no significant difference observed for tissue SOD activity or NO levels between these 2 groups. In the curcumin+CO group, the Bcl-2 level was higher than that in the CO group (P=0.017). CONCLUSIONS The positive effect of curcumin on CAT activities, together with suppression of MDA levels, has shown that curcumin may have a protective effect against CO poisoning.


Assuntos
Intoxicação por Monóxido de Carbono , Catalase , Curcumina , Malondialdeído , Óxido Nítrico , Estresse Oxidativo , Ratos Sprague-Dawley , Superóxido Dismutase , Animais , Curcumina/farmacologia , Curcumina/uso terapêutico , Intoxicação por Monóxido de Carbono/tratamento farmacológico , Intoxicação por Monóxido de Carbono/metabolismo , Feminino , Malondialdeído/metabolismo , Óxido Nítrico/metabolismo , Superóxido Dismutase/metabolismo , Ratos , Estresse Oxidativo/efeitos dos fármacos , Catalase/metabolismo , Hipocampo/metabolismo , Hipocampo/efeitos dos fármacos , Arginina/farmacologia , Arginina/metabolismo , Arginina/análogos & derivados , Monóxido de Carbono/metabolismo , Antioxidantes/farmacologia , Antioxidantes/metabolismo , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo
2.
Childs Nerv Syst ; 38(2): 421-428, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34713346

RESUMO

PURPOSE: Cerebral sinus vein thrombosis (CSVT) associated with acute mastoiditis is a rare complication of acute otitis media. Elevated intracranial pressure (ICP) frequently occurs secondary to CSVT. The study aims to review the 5 years of experience of four medical centres to treat sigmoid sinus thrombosis and elevated intracranial pressure in children. METHODS: Patients with CSVT that developed secondary mastoiditis from 2016 through 2021 were evaluated in four centres from Turkey. Patients diagnosed with a preceding or synchronous mastoiditis and intracranial sinus thrombosis were included in the study. Magnetic resonance imaging (MRI), magnetic resonance venography (MRV), ICP measurements, ophthalmological examinations, thrombophilia studies and treatments for increased ICP have also been recorded. RESULTS: The study group comprises 18 children. Twelve patients were diagnosed with right-sided, six patients with left-sided sinus vein thrombosis. All of the patients had ipsilateral mastoiditis. The most common presenting symptoms were fever, ear pain, headache, visual disorders and vomiting. The most encountered neurologic findings were papilledema, strabismus and sixth cranial nerve palsy. ICP was over 20 cm H2O in eleven patients. Anticoagulant treatment, antibiotics, pressure-lowering lumbar puncture and lumboperitoneal shunt were among the treatment modalities. CONCLUSION: Elevated ICP can damage the brain and optic nerve irreversibly, without treatment. For treating elevation of ICP associated with cerebral sinus thrombosis, pressure-lowering lumbar puncture (LP), acetazolamide therapy, optic nerve sheath fenestration (ONSF) and cerebrospinal fluid (CSF)-shunting procedures are suggested in case of deteriorated vision.


Assuntos
Hipertensão Intracraniana , Mastoidite , Papiledema , Trombose dos Seios Intracranianos , Criança , Cavidades Cranianas/diagnóstico por imagem , Humanos , Hipertensão Intracraniana/complicações , Hipertensão Intracraniana/etiologia , Pressão Intracraniana , Mastoidite/complicações , Mastoidite/diagnóstico por imagem , Mastoidite/terapia , Papiledema/complicações , Papiledema/etiologia , Trombose dos Seios Intracranianos/complicações , Trombose dos Seios Intracranianos/diagnóstico por imagem
3.
Metab Brain Dis ; 36(8): 2255-2262, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34550503

RESUMO

Neurotransmitter disorders are a group of neurometabolic syndromes caused by disturbances of neurotransmitter metabolism. The primary aim of this retrospective study is to present patients with disturbances of monoamine neurotransmitter metabolism. Cerebrospinal fluid (CSF) neurotransmitter measurements and genetic analysis were performed on five patients. Five patients who had various movement disorders and motor and cognitive disabilities were included. Four patients were diagnosed with sepiapterin reductase (SR) deficiency, and one was diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency. Different treatment responses appeared in patients with SR and AADC deficiency. The responses to drug treatment ranged from good to weak in our patients. The diagnosis process is challenging in patients with SR and AADC deficiency, which present similar clinical features to other neurological and metabolic diseases. Investigations of neurotransmitters in CSF and analysis of related genes are essential to differentiate disturbances of monoamine neurotransmitter metabolism from other neurometabolic diseases. For patients with monoamine neurotransmitter disorders, drugs that target these disturbances should be combined as necessary to produce the appropriate response.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Erros Inatos do Metabolismo , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Descarboxilases de Aminoácido-L-Aromático/genética , Descarboxilases de Aminoácido-L-Aromático/metabolismo , Humanos , Neurotransmissores/metabolismo , Estudos Retrospectivos
4.
Metab Brain Dis ; 36(6): 1201-1211, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33704661

RESUMO

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of early-diagnosed patients, and responses to short-term chenodeoxycholic acid (CDCA) treatment. Seven of 11 CTX patients were diagnosed in childhood. Three patients (27%) had neonatal cholestasis, seven (63%) patients had a history of frequent watery defecation started in infantile period, and eight (72.7%) patients had juvenile cataract. Four patients in the adult age group had pyramidal signs and parkinsonism symptoms. The mean Mignarri score at diagnosis was significantly lower in the pediatric patients (267.8 ± 51.4) than in the adult patients (450.0 ± 64.0, p = 0.001). No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol concentration at diagnosis (p = 0.482). The frequency of defecation decreased with treatment in six children, who had diarrhea at admission. Compared to pretreatment values, patients' body weight and standardized body mass index significantly increased at the 12th month of treatment. In conclusion, Mignarri scores are lower in the pediatric patients than in adult patients since the most determinative signs of the CTX disease are not apparent yet in the childhood. The disease is frequently overlooked in routine practice as the disease presents itself with different clinical combinations both in adults and in children. CTX is potentially a treatable disease; thereby, enhanced awareness is critically important for early diagnosis particularly in children.


Assuntos
Ácido Quenodesoxicólico/farmacologia , Colestanol/sangue , Diagnóstico Precoce , Xantomatose Cerebrotendinosa/complicações , Xantomatose Cerebrotendinosa/fisiopatologia , Adolescente , Adulto , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Xantomatose Cerebrotendinosa/diagnóstico
5.
Fetal Pediatr Pathol ; 40(5): 518-522, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32000563

RESUMO

BACKGROUND: One of the causes of congenital adrenal insufficiency, a genetically heterogeneous disorder is a mutation in the CYP11A1 gene, which is responsible for the initiation of steriodogenesis by converting cholesterol to pregnenolone. Case: In a now 3 years and 3 months-old girl, adrenal insufficiency was diagnosed in the neonatal period. Clinical exome sequencing for primary adrenal insufficiency revealed a homozygous p.Thr330Met (c.989C>T) variant in the CYP11A1 (NM_000781) gene. Conclusion: Different types of inheritance patterns have been observed in CYP11A1-related adrenal insufficiency cases. We consider our case is an due to an autosomal recessive inheritance.


Assuntos
Insuficiência Adrenal , Enzima de Clivagem da Cadeia Lateral do Colesterol , Insuficiência Adrenal/genética , Enzima de Clivagem da Cadeia Lateral do Colesterol/genética , Feminino , Homozigoto , Humanos , Recém-Nascido , Mutação , Sequenciamento do Exoma
6.
Fetal Pediatr Pathol ; 40(6): 702-706, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32162566

RESUMO

Introduction Genetic causes of the intellectual disability Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome (MRT47, MIM 616193) are mutations in the recently described FMN2 (formin 2 gene). Case report: A boy with intellectual disability had a novel homozygous nonsense mutation (c.2245C > T/p.Gln749*) leading to a premature stop codon in exon 6 of the FMN2 (NM_001305424) gene detected by Clinical Exome Sequencing (CES). Conclusion: Clinical features of a patient with a novel nonsense FMN2 mutation is presented. We urge the change in the OMIM nomenclature from Mental Retardation, Autosomal Recessive 47 (MRT47, MIM 616193) to 'Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome'.


Assuntos
Códon sem Sentido , Deficiência Intelectual , Criança , Genes Recessivos , Homozigoto , Humanos , Deficiência Intelectual/genética , Masculino , Mutação , Linhagem
7.
Pediatr Emerg Care ; 33(10): e98-e99, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26959518

RESUMO

Hot water epilepsy (HWE) is a rare form of reflex epilepsy precipitated by a bath or shower in hot water. Although the condition is benign and a decreased bath temperature will help, antiepileptic drugs may be needed in some cases. Prophylactic clobazam is currently the first choice treatment option. Here we report the case of a 10-year-old boy with HWE successfully treated with daily doses of clobazam. Daily clobazam was preferred over prophylactic clobazam because of the patient's frequent bathing and parental concern. Daily clobazam is a novel treatment option for HWE and seems to be a good choice where antiepileptic drugs are necessary.


Assuntos
Anticonvulsivantes/uso terapêutico , Benzodiazepinas/uso terapêutico , Epilepsia Reflexa/tratamento farmacológico , Banhos/efeitos adversos , Criança , Clobazam , Temperatura Alta/efeitos adversos , Humanos , Masculino
8.
Pediatr Int ; 56(2): 264-6, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24730629

RESUMO

Neurological symptoms such as ptosis may develop due to either chemotherapeutic agents or involvement of the central nervous system (CNS) during hematologic malignancy. It is difficult to make this distinction according to clinical symptoms and magnetic resonance imaging findings. If the neurologic symptoms are increased, it is a warning of CNS involvement. Herein are described the clinical and neuroimaging features of three patients with hematologic malignancy who presented with ptosis.


Assuntos
Antineoplásicos/efeitos adversos , Blefaroptose/induzido quimicamente , Neoplasias Hematológicas/tratamento farmacológico , Adolescente , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
9.
Epilepsy Res ; 205: 107418, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39003967

RESUMO

OBJECTIVES: Hot water epilepsy (HWE) is a type of epilepsy that primarily affects children. This study was aimed to evaluate the clinical, electroencephalogram (EEG), neuroimaging findings, and treatment options in children with HWE. METHODS: The medical records of 24 patients who had HWE were evaluated retrospectively. RESULTS: There were 2767 patients diagnosed with epilepsy during the seven-year period, and 0.86 % of the patients had HWE. The median age of the patients was three (range 1.2-7 years), with a male predominance (male/female ratio: 7.1). Six patients (25 %) had HWE with spontaneous seizures (HWESS) and 18 patients (75 %) had HWE alone (HWEA). 11 patients had focal onset seizures, 13 patients had generalized onset seizures. EEG abnormalities were found in 7 patients (29.2 %). Three patients (12.5 %) had nonspecific MRI findings. Developmental abnormalities (autism spectrum disorder, learning disability and speech disturbance.) were detected in 8 patients (33.3 %). Only one patient's (4.2 %) seizure could be controlled by changing bathroom habits. Twenty-three patients (95.8 %) were given antiepileptic drugs. 18 of 24 patients had come for follow-up visits for two years, nine of them used monotherapy and seizures did not recur. The treatment response was 55.5 %. Oxcarbazepine (8 patients, 33.3 %) and valproic acid (7 patients, 29.2 %) were the most chosen two drugs for HWE. The genetic tests performed were not accepted relevant to the patients' clinical conditions and epilepsy. CONCLUSION: The frequency of the HWE was not as high in the literature. Male predominance, EEG abnormalities may be seen. Changing bath room habits did not improve the treatment as a first line management, all the patients except one used antiepileptic drug treatment. Until now, there has been no study in Turkey showing the frequency of HWE exclusively in children.


Assuntos
Anticonvulsivantes , Eletroencefalografia , Convulsões , Humanos , Masculino , Feminino , Criança , Pré-Escolar , Anticonvulsivantes/uso terapêutico , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Convulsões/fisiopatologia , Lactente , Água , Epilepsia/tratamento farmacológico , Epilepsia/fisiopatologia , Epilepsia/complicações , Imageamento por Ressonância Magnética , Temperatura Alta
10.
Medicine (Baltimore) ; 103(12): e37380, 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38518030

RESUMO

The literature study was conducted by using the Web of Science (WoS) database, employing bibliometric analysis to examine all papers released from 1980 to 2020. The search was performed using the terms "sepsis, septicemia, septic shock" specifically within the titles of the publications. The findings of the literature research revealed a total of 51,725 articles. Out of the total number of publications, 26,896 articles were identified, accounting for 51.9% of the total. The bibliometric study revealed that the United States had the largest number of papers (8693), followed by China (2807), Germany (2299), France (1606), and the United Kingdom (1932). The writers that exhibited the most prolific output in terms of article production on the topic of sepsis were Vincent, with a total of 217 articles, followed by Wang P with 154 articles, and Chaudry IH with 126 articles. The University of Pittsburgh, Brown University, and the University of Michigan were identified as the most productive universities, in that order. The findings from the prediction model revealed that the projected number of articles to be published in 2021 is estimated to be 2086, while the projected number for 2030 is estimated to be 2637. The literature has predominantly focused on disease markers and diagnostic methods, severity and effects of the disease, immunity and inflammation, effects of the disease in neonates and the neonatal period, and treatment and care. According to trend analysis results, recent focus in sepsis research includes a broad spectrum of investigations such as mortality rates, prognostic determinants, diagnostic methods, biomarkers, epidemiological insights, critical care strategies, infections, treatment outcomes, emergency department scenarios, pediatric assessments, and antibiotic interventions.


Assuntos
Sepse , Choque Séptico , Recém-Nascido , Humanos , Criança , Bibliometria , França , Publicações , Sepse/terapia
11.
Heliyon ; 10(14): e34620, 2024 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-39113952

RESUMO

Objectives: In patients undergoing surgery due to diabetic foot complications from uncontrolled diabetes may lead to neuraxial or general anesthesia-related issues. Regional anesthesia techniques can be preferred to prevent these complications. This study aimed to compare the hemodynamic effects and outcomes in terms of pain of continuous infusion and single injection methods of popliteal nerve block in patients undergoing surgery due to diabetic foot. Materials and methods: Sixty-three patients in ASA II-IV risk group scheduled for diabetic foot surgery were randomized into two groups for popliteal nerve block as the anesthesia method. Group 1 (n:32), 30 mL of local anesthetic was administered around the popliteal nerve under ultrasound guidance and nerve stimulator. Group 2 (n:31) had a catheter placed beyond the needle tip by 4-5 cm. An elastomeric pump was prepared for the infusion of 2 mL/h of 0.25 % bupivacaine through the catheter. Hemodynamic parameters before and after the block, onset, block duration times, postoperative pain scores, time to analgesic requirement, patient satisfaction, and discharge time were recorded. Results: Pain scores were higher in Group 1 after 12 h postoperatively and in Group 2 after 60 h postoperatively (p = 0.006, p < 0.01, respectively). The time to the first analgesic requirement was not statistically different between Group 1 (mean 804.64 ± 1020.8 min) and Group 2 (mean 2012.78 ± 1424 min) (p = 0.072). There was no significant difference in systolic, diastolic, mean arterial blood pressure, and heart rate between groups before and after successful blockade (p > 0.05). Conclusions: Continuous infusion method of popliteal nerve block provides a longer pain-free period. Both methods showed similar hemodynamic data and low pain scores. Although continuous infusion method provides better analgesia, its procedural cost, technical difficulties, and adverse effects on patient comfort should also be considered.

12.
Acta Neurol Belg ; 2024 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-39192159

RESUMO

OBJECTIVE: Central nervous system (CNS) complications can be seen in patients with leukemia, depending on the disease itself and the chemotherapeutic agents used. This study focused on CNS complications during treatment in children with acute leukemia in a single pediatric institution. METHODS: CNS complications were evaluated retrospectively in 115 patients with ALL and AML. Patients with CNS leukemia infiltration at the time of diagnosis or during a neurological event, late-onset encephalopathy, peripheral neuropathy, or a previous history of neurological abnormalities were excluded from the study. RESULTS: A total of 115 children's clinical records with acute leukemia over a four-year period were reviewed. Acute CNS complications developed in 23.1% of acute myeloid leukemia (AML) patients and in 13.5% of acute lymphoblastic leukemia (ALL) patients. CNS complications developed most frequently during the induction phase of the treatment (66.7%). Seizures were the most common symptom (9 patients, 50%), followed by hemiparesis (4 patients, 22.2%) and headache (4 patients, 22.2%). Six patients (33.3%) had chemotherapy-induced toxic leukoencephalopathy, two (11.1%) had Wernicke's encephalopathy, and one patient (5.6%) each had sinus vein thrombosis, posterior reversible encephalopathy syndrome, and CNS infection. Sequelae occurred in three patients (16.7%), and only one patient (5.6%) died due to a CNS complication. CONCLUSION: A wide variety of symptoms can be observed in childhood leukemia, depending on the disease itself, the chemotherapeutic agents used and a lot of other conditions such as nutritional problems. Our research shows that several CNS complications might manifest with similar symptoms; differentiated diagnosis between the underlying etiological reasons can be made by neuroimaging.

13.
Pediatr Int ; 55(3): 328-31, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23782365

RESUMO

BACKGROUND: Breath holding spells (BHS) are known as paroxysmal non-epileptic disorder. There are two subtypes of BHS: cyanotic and the pallid. BHS have been reported to occur in 0.1-4.6% of children in Western countries. Although it is easy to diagnose in its typical form, the data on prevalence of BHS are insufficient in developing countries. METHODS: This study was performed in Turkey's Eskisehir province. A total of 1000 randomly selected 0-6-year-old children were invited to family health centers. A specific questionnaire was given to parents. Children who had a history BHS were referred to the hospital to for investigation of medical history and neurological examinations. RESULTS: A total of 933 children participated and were included in analysis. Thirty-four children (3.6%) had had BHS. Children's birthweight, parent consanguinity and mothers' education status significantly affected the frequency of BHS. Increase in birth sequence decreases the risk of BHS 0.65-fold. Fathers' education status also affected the prevalence of BHS, with the risk of BHS being 0.39-fold less if the father had completed high school or some higher education. And, as the age of the fathers increased, the risk that their children would have BHS was 1.14-fold higher. CONCLUSIONS: Although the calculated prevalence rate was compatible with previous studies, positive family history for BHS, birth sequence, parents' education status and fathers' age were identified as risk factors associated with BHS.


Assuntos
Suspensão da Respiração , Países em Desenvolvimento , Ordem de Nascimento , Suspensão da Respiração/genética , Criança , Pré-Escolar , Consanguinidade , Estudos Transversais , Diagnóstico Diferencial , Escolaridade , Feminino , Inquéritos Epidemiológicos , Humanos , Lactente , Masculino , Idade Paterna , Fatores de Risco , Inquéritos e Questionários , Turquia
14.
Arch Pediatr ; 30(7): 445-449, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37704523

RESUMO

BACKGROUND: This study aimed to evaluate the anxiety, depression, obsessive-compulsive disorder symptoms, and quality of life of children whose parents were healthcare workers during the coronavirus disease 2019 (COVID-19) pandemic period. METHODS: The participants completed a sociodemographic questionnaire, the depression inventory for children (CDI), the screening for anxiety disorders in children (SCARED), the Maudsley obsessive compulsive question list (MOCQL), and the pediatric quality of life inventory (PedsQL) using online applications. A total of 153 children and adolescents whose parents were healthcare workers and 356 children and adolescents whose parents were not healthcare workers were included in the study. RESULTS: One tenth of all children participating in our study had a high level of depression, and nearly half of them had a high level of anxiety. There was no significant difference in CDI (p = 0.306), SCARED (p = 0.841), and PedsQL (p = 0.863) scale scores between the two groups. The MOCQL scale scores were higher in the group whose parents were not health professionals for cleanliness (p<0.001), slowness (p = 0.001), and total score (p<0.001). CONCLUSION: It was found that all participants were affected by anxiety, depression, and quality of life decline; moreover, obsessive-compulsive symptoms were more common in children whose parents were healthcare workers. In this context, our findings could help determine possible mental health problems of children and adolescents whose parents are or are not healthcare workers.


Assuntos
COVID-19 , Transtorno Obsessivo-Compulsivo , Adolescente , Humanos , Criança , Pandemias , Qualidade de Vida , Depressão/diagnóstico , Depressão/epidemiologia , COVID-19/epidemiologia , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/epidemiologia , Ansiedade/epidemiologia , Pessoal de Saúde , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/epidemiologia
15.
Acta Neurol Belg ; 123(5): 1903-1909, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36352199

RESUMO

BACKGROUND: Hypoxic ischemic encephalopathy (HIE) has different neurological outcomes. AIM: We wanted to see if there was any developmental delay in neonates with hypoxia ischemic encephalopathy who were given therapeutic hypothermia. STUDY DESIGN: Retrospective cohort study. METHODS: The Denver developmental screening test II (DDST-II) was performed to newborns who had been applied to therapeutic hypothermia. RESULTS: There were 69 male and 36 female newborns. The mean 1-min and 5-min Apgar scores were 4.72 ± 2.51 and 7.03 ± 2.017, respectively. The mean pH and mean base excess were 6.92 ± 0.1 and -18.05 ± 5.72, respectively. The most common risk factors were meconium staining (17.1%). There were 67 patients with Stage I, 20 with Stage II, and 18 with Stage III. Diffusion restriction was seen in 13 patients. 28 patients had seizures. In aEEG, 12 patients had burst suppression. Three (2.9%) infants died during hospitalization. 19 patients missed follow-up appointments. Thirteen patients had abnormal development according to DDST-II. Seven patients had gross motor function delays and were diagnosed with cerebral palsy. Three had language skill delays, but two of them had speech disorders after two years of age. Two had delayed milestones. Two had delays in fine motor skills but did not have any sequels after two years of age. A significant difference was found between seizures and the severity of Sarnat stage, intubation in the delivery room with developmental delay. Apgar scores were significantly lower in patients with CP. CONCLUSION: We should closely follow-up neonates who had low Apgar scores, seizures, a high Sarnat stage, were intubated in the delivery room.


Assuntos
Hipotermia Induzida , Hipóxia-Isquemia Encefálica , Doenças do Recém-Nascido , Transtornos do Desenvolvimento da Linguagem , Lactente , Humanos , Recém-Nascido , Masculino , Feminino , Estudos Retrospectivos , Convulsões/complicações , Fatores de Risco
16.
Neuropediatrics ; 43(3): 149-51, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22473286

RESUMO

Subacute sclerosing panencephalitis (SSPE) is a progressive neurodegenerative disorder. Ocular involvement in SSPE has been well known and might be seen in 42 to 50% of the patients. Visual findings are generally seen at stage III with neurological abnormalities. Ophthalmologic involvement might be preceding typical SSPE symptoms.


Assuntos
Coriorretinite/diagnóstico , Panencefalite Esclerosante Subaguda/diagnóstico , Adolescente , Humanos , Masculino
17.
Childs Nerv Syst ; 28(12): 2181-3, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22965773

RESUMO

PURPOSE: Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients. METHOD: Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated. RESULT: Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations. CONCLUSION: We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.


Assuntos
Códon sem Sentido/genética , Genes da Neurofibromatose 1/fisiologia , Neurofibromatose 1/genética , Síndrome de Noonan/genética , Adolescente , Osso e Ossos/diagnóstico por imagem , Códon/genética , Códon sem Sentido/fisiologia , Éxons/genética , Cabeça/anatomia & histologia , Cefaleia/etiologia , Humanos , Hidrocefalia/patologia , Masculino , Náusea/etiologia , Neurofibromatose 1/diagnóstico por imagem , Síndrome de Noonan/diagnóstico por imagem , Mutação Puntual/genética , Mutação Puntual/fisiologia , Reação em Cadeia da Polimerase , Radiografia , Vômito/etiologia
18.
Arq Neuropsiquiatr ; 80(8): 779-785, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-36252585

RESUMO

BACKGROUND: Although febrile seizure (FS) is generally considered benign and self-limiting, there are differences regarding the risk factors, the prognosis, and the development of epilepsy. OBJECTIVE: To examine the clinical and sociodemographic characteristics of patients diagnosed with FS, and to determine the risks of recurrence and the development of epilepsy. METHODS: Between 2015 and 2019, we performed a retrospective evaluation of 300 patients with FS followed for at least 24 months. RESULTS: The first episode of FS was simple in 72.7% of the patients and complex in 27.3%, and it recurred in 40%. Age under 12 months in the first FS, complex FS, and neurodevelopmental delay were found to statistically increase the risk of recurrence (p < 0.05). A total of 7% of the patients developed epilepsy, and this rate was found to be higher in patients with neurodevelopmental delay and long-term use of antiepileptic drugs (p < 0.001). The development of epilepsy was also observed in 77.8% of the patients with abnormal electroencephalogram (EEG). Epilepsy developed more frequently in those with abnormal EEG (p<0.001). CONCLUSIONS: Neurodevelopmental delay was an important risk factor for FS recurrence and the development of epilepsy. Abnormality in the EEG is an important risk factor for the development of epilepsy. We found that the long-term prophylactic treatment did not cause decreases in the recurrence of FS nor in the development of epilepsy.


ANTECEDENTES: Embora a convulsão febril (CF) seja geralmente considerada benigna e autolimitada, existem diferenças nos fatores de risco, prognóstico e desenvolvimento de epilepsia. OBJETIVO: O objetivo foi examinar as características clínicas e sociodemográficas de pacientes diagnosticados com CF e determinar os riscos de recorrência e desenvolvimento de epilepsia. MéTODOS: Trezentos pacientes com CF, acompanhados por pelo menos 24 meses, foram avaliados retrospectivamente entre 2015 e 2020. RESULTADOS: A primeira CF foi simples em 72,7% dos pacientes e complexa em 27,3%. CS foi recorrente em 40% dos pacientes. Encontrou-se que a idade da primeira CF inferior a 12 meses, CF complexa e atraso no neurodesenvolvimento aumentaram estatisticamente o risco de recorrência (p < 0,05). Epilepsia se desenvolveu em 7% dos pacientes. A epilepsia foi maior em pacientes com atraso no desenvolvimento neurológico e uso prolongado de drogas antiepilépticas (p < 0,001). A epilepsia se desenvolveu em 77,8% dos pacientes com eletroencefalograma (EEG) anormal. Uma diferença estatisticamente significativa foi determinada em pacientes com EEG anormal em risco de epilepsia (p < 0,001). CONCLUSõES: O atraso no neurodesenvolvimento foi um importante fator de risco para recorrência de CF e epilepsia. A anormalidade do EEG é um importante fator de risco para o desenvolvimento de epilepsia. O tratamento de profilaxia a longo prazo não diminuiu a recorrência de CS e o desenvolvimento de epilepsia.


Assuntos
Epilepsia , Convulsões Febris , Anticonvulsivantes/uso terapêutico , Eletroencefalografia , Epilepsia/complicações , Epilepsia/tratamento farmacológico , Humanos , Lactente , Recidiva , Estudos Retrospectivos , Fatores de Risco , Convulsões Febris/complicações , Convulsões Febris/diagnóstico , Convulsões Febris/tratamento farmacológico
19.
Acta Neurol Belg ; 121(6): 1449-1455, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32157669

RESUMO

To compare the foveal avascular zone (FAZ), macular and peripapillary vessel density and retinal nerve fiber layer (RNFL) thickness between pediatric migraine patients and healthy subjects. A total of 108 eyes of 54 children with migraine without aura and 94 eyes of 47 age- and gender-matched healthy subjects were included. Capillary vessel density (CVD) in superficial (SCP) and deep (DCP) retinal capillary plexus, peripapillary region, FAZ, and RNFL thickness were analyzed by optical coherence tomography-angiography. The mean ages were 12.4 ± 3.3 years (range 6-18) in patients with migraine and 12.6 ± 2.9 years (range 5-18) in healthy controls (p = 0.742). The mean FAZ area measured 0.27 ± 0.09 mm2 in the pediatric migraineurs and 0.26 ± 0.09 mm2 in healthy controls (p = 0.53). There was no significant difference in any measurement of SCP, DCP, peripapillary CVD, and RNFL thickness between study groups (p > 0.05 for all). The pediatric migraine disability assessment test (PedMIDAS) negatively correlated with some of the CVD and RNFL measurements in pediatric migraine patients (p < 0.05). The macular and peripapillary microvasculature were not significantly different during an attack-free period in pediatric migraine patients than in healthy subjects.


Assuntos
Angiofluoresceinografia/métodos , Microvasos/diagnóstico por imagem , Transtornos de Enxaqueca/diagnóstico por imagem , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Fóvea Central/irrigação sanguínea , Fóvea Central/diagnóstico por imagem , Humanos , Masculino , Estudos Prospectivos
20.
Cureus ; 13(10): e19056, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34858744

RESUMO

Background Although the deterioration in sound quality is not as much as endotracheal intubation, it can also be seen after the use of laryngeal mask airway (LMA). The aim of this study is to investigate the effects of different LMA types on voice performance. Methods This study included 88 patients aged 18-80 years, whose surgical procedure was not planned to take longer than 120 minutes. In the acoustic voice analysis, F0, jitter%, and shimmer% were examined. In addition, the Voice Handicap Index (VHI)-30 questionnaire has completed an evaluation of voice quality. The patients were randomly divided into two groups (I-gel LMA [n=44]; Classic LMA [n=44]) according to the closed envelope method. Results A total of 88 patients were included in the study. Demographic data of the patients were statistically similar between the groups (p > 0.05). The changes in the preoperative and postoperative F0, jitter, and VHI-30 values in the I-gel group were statistically significant (p: 0.002, p: 0.001, p < 0.001). Shimmer values were not significantly different (p: 0.762). In the classical LMA group, preoperative and postoperative F0, jitter, shimmer, and VHI-30 values were statistically significantly different (p: 0.001, p: 0.012, p: 0.036, p < 0.001). Conclusion I-gel LMA and classic LMA negatively affect voice performance in the preoperative and postoperative periods. This situation was also observed in the VHI-30 index test. However, when this situation was evaluated in terms of shimmer analysis, the decrease in voice quality in the early postoperative period was more limited in the I-gel group.

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