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1.
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
2.
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
3.
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
4.
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
5.
Arq. neuropsiquiatr ; 80(8): 779-785, Aug. 2022. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1403538

RESUMO

Abstract 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.


Resumo 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.

6.
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
7.
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.

8.
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
9.
Turk J Pediatr ; 63(4): 594-601, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34449141

RESUMO

BACKGROUND: We studied microRNAs (miRNAs) -146a, -155, -181 and -223 expressions and proinflammatory cytokine levels in children with Febrile seizure (FS) and compared to febrile controls. METHODS: This prospective multicenter study examined representative populations in eight different cities in Turkey between June 30, 2018 and July 1, 2019. Blood samples were taken from all children at presentation. The real time (RT) polymerase chain reaction (PCR) were used to measure the expressions of microRNAs and tumor necrosis factor alpha (TNF-α), interleukin 1 beta (IL-1ß), and interleukin 6 (IL-6) levels were studied by enzyme-linked immuno-sorbent assay. RESULTS: The study was conducted with 60 children; 30 children with FS and 30 children in the febrile control group. The seizure was classified as simple FS in 73.3 % and half of the children were experiencing their first FS episode. Although the expression levels of miRNAs-146a, -181a and -155 were higher in febrile seizure patients, only miRNAs 146a level was significantly higher in FS patients. Serum TNF-α, IL-1ß, IL-6 levels were higher in the FS group than the controls. The results of statistical analysis showed that there were correlations within miRNA expressions in children with FS. No differences were found considering miRNA expression between FS type, number of FS experienced. CONCLUSIONS: miRNAs-146a, -181a, -155 and -223 may be involved in FS pathogenesis. Altered miRNA expression levels might be an adaptive response to inflammation. New therapeutic approaches might be developed based on miRNA expressions in children with FS.


Assuntos
MicroRNAs , Convulsões Febris , Criança , Humanos , Interleucina-6 , Estudos Prospectivos , Convulsões Febris/genética , Fator de Necrose Tumoral alfa
10.
Neurol Res ; 43(9): 744-750, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34034642

RESUMO

Purpose: Pathogenic variants of the WWOX gene have been linked to sexual differentiation disorders, spinocerebellar ataxia, and epileptic encephalopathy (EE). We evaluated the clinical and molecular data from six newly diagnosed patients with WWOX-related EE.Methods: Clinical and molecular findings in six patients with EE were investigated, and biallelic pathogenic variants in the WWOX gene were identified. Clinical exome sequencing and Sanger sequencing were performed.Results: Three variations, as well as two novel mutations, in the WWOX gene were detected.Conclusion: Pathogenic WWOX mutations are associated with early-onset EE. Here, we report the case of six children with WWOX-related EE.


Assuntos
Encefalopatias/genética , Epilepsia/genética , Proteínas Supressoras de Tumor/genética , Oxidorredutase com Domínios WW/genética , Encéfalo/patologia , Encefalopatias/complicações , Encefalopatias/patologia , Criança , Pré-Escolar , Epilepsia/complicações , Epilepsia/patologia , Feminino , Humanos , Masculino , Mutação , Estudos Retrospectivos
11.
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
12.
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
13.
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
14.
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
15.
North Clin Istanb ; 8(6): 623-625, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35284801

RESUMO

It is considered a neurological emergency when a patient presents with anisocoria. It is important that the anisocoria whether or not accompanied by the neurological findings. Other reasons of anisocoria should be considered when the absence of neurological or ophthalmological signs such as change of mental status, hemiparesis, ophthalmoplegia, ptosis. Herein we report two cases of temporary anisocoria due to inhaler ipratropium bromide and Angel's trumpet.

16.
Balkan Med J ; 38(2): 116-120, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33045823

RESUMO

BACKGROUND: Febrile seizure is the most common neurological disorder in childhood. The exact pathophysiology of febrile seizures is unknown. Recent studies showed the role of vitamin K in nonhematological and inflammatory disorders. This study aimed to investigate the serum vitamin K levels in children with febrile seizures. AIMS: To evaluate vitamin K levels in children with febrile seizures. STUDY DESIGN: Prospective case-control study. METHODS: This multicenter study examined representative populations in 8 different cities in Turkey between April 1, 2018 and April 1, 2019. Blood samples were taken from all children at presentation. Vitamin K1, vitamin K2, tumor necrosis factor-alpha, interleukin 1 beta, and interleukin 6 levels were determined by enzyme-linked immunosorbent assay. RESULTS: A total of 155 children were included in the study-84 children with febrile seizures and 71 children in febrile control group. Serum vitamin K1 and vitamin K2 levels were also higher in children with febrile seizures than in the controls. The results of statistical analysis showed that vitamin K1 and vitamin K2 levels were correlated with tumor necrosis factor-alpha, interleukin 1 beta, and interleukin 6 levels. The median vitamin K1 and vitamin K2 levels of children experiencing their first febrile seizure were higher than those in children with recurrent febrile seizures. Type of febrile seizure has no effect on serum vitamin K1 and vitamin K2 levels. CONCLUSION: In children with febrile seizures, vitamin K levels are higher than those in the control group. These new findings may contribute to elucidating the etiopathogenesis of febrile seizures.


Assuntos
Convulsões Febris/sangue , Deficiência de Vitamina K/complicações , Vitamina K/análise , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Interleucina-1beta/análise , Interleucina-1beta/sangue , Interleucina-6/análise , Interleucina-6/sangue , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estatísticas não Paramétricas , Vitamina K/sangue , Deficiência de Vitamina K/fisiopatologia
17.
Korean J Pain ; 33(3): 288-289, 2020 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-32606275
19.
P R Health Sci J ; 39(1): 45-50, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32383567

RESUMO

OBJECTIVE: To investigate the relationship between caregivers' health literacy and adherence to treatment in children with epilepsy. METHODS: The participants included 226 children and adolescents with epilepsy and their primary caregivers. The demographic and clinical characteristics were abstracted. An antiepileptic drug adherence assessment was done with the validated Morisky Medication Adherence Scale-8 (MMAS-8). According to the scale's scoring system, 0 points indicates high adherence, 1 to 2 points, moderate adherence, and 3 to 8 points, low adherence. A 17-item public health literacy knowledge scale (PHLKS) was used to measure the caregivers' levels of health knowledge. For this scale, higher scores indicate higher levels of health knowledge. A logistic regression model was used to evaluate the effects of demographic characteristics and clinical findings on full drug adherence. RESULTS: The overall prevalence of complete drug adherence among patients was 47.3%. The median value of the MMAS-8 score was 1 point (0-8 points). The main reasons for high scores were forgetting to take medication (33.6%) and the difficulties in adhering to treatment (24.3%). The median of the PHLKS score was 13 points (4-17 points). According to the logistic regression results, patients in the 0 to 5 years age group were more likely to have full drug adherence than were those in the 12 to 18 years age group (OR [95% CI]: 2.9 [1.4-6.5]; p = 0.007). As the PHLKS score increased, drug adherence also significantly increased (OR [95% CI]: 0.8 [0.7-0.9]; p = 0.008). CONCLUSION: Age and caregivers' health literacy knowledge were found to be significantly associated with adherence. To better define the factors associated with drug adherence in children with epilepsy, additional research (using objective, validated tools) aimed at determining caregivers' health literacy is needed.


Assuntos
Anticonvulsivantes/administração & dosagem , Cuidadores/estatística & dados numéricos , Epilepsia/tratamento farmacológico , Letramento em Saúde/estatística & dados numéricos , Adesão à Medicação/estatística & dados numéricos , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Masculino
20.
Korean J Pain ; 33(2): 176-182, 2020 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-32235018

RESUMO

BACKGROUND: Catheter-related bladder discomfort (CRBD) has been observed in many patients undergoing a urethral catheterization. CRBD may be so severe that the patients require additional analgesics. Muscarinic receptors are involved in the mechanism of CRBD. The aim of this study is to determine the effects of the antimuscarinic properties of atropine, which is frequently used in current practice on CRBD, by comparing it with sugammadex which has no antimuscarinic effects. METHODS: Sixty patients selected for transurethral resection due to bladder tumors were randomized into 2 groups: an atropine group and a sugammadex group, with no antimuscarinic effect. The patients were given rocuronium (0.6 mg/kg) as a neuromuscular- blocker. In addition to the frequency and severity of CRBD postoperatively at 0, 1, 6, 12, and 24 hours, postoperative numeric rating scale (NRS) scores, and postoperative nausea and vomiting were examined. RESULTS: The incidence of CRBD was significantly lower in the atropine group in all postoperative measurements. The score was found to be significantly lower in the atropine group when NRS measurements were performed at all time periods (P < 0.01). There was no difference between the groups in terms of nausea and vomiting (P > 0.05). CONCLUSIONS: Atropine is a cheap, easy-to-access, safe-to-use drug for reducing CRBD symptoms, without any observed adverse effects. Since it not only reduces CRBD symptoms but also has a positive effect on postoperative pain, it can be used safely to increase patient comfort in patients receiving general anesthesia and a urinary catheter.

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