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1.
Arch. argent. pediatr ; 122(3): e202310085, jun. 2024. tab
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1554679

RESUMO

Introducción. La evaluación de la visión en los niños durante el periodo preverbal, con un método fácil de usar y basado en la evidencia, permitiría el diagnóstico temprano y la intervención en los trastornos visuales. El objetivo del estudio fue determinar la utilidad y confiabilidad de la versión en idioma turco del cuestionario Preverbal Visual Assessment (PreViAs), desarrollado para evaluar la visión en niños preverbales. Población y métodos. El cuestionario PreViAs se administró a los cuidadores primarios de niños nacidos de término, antes de los 24 meses de edad. Se registraron sus respuestas. Resultados. Se analizaron los datos de 278 participantes para evaluar la consistencia interna del cuestionario PreViAs. Se encontró un alto nivel de consistencia con un alfa de Cronbach de 0,958 para el puntaje total, lo que sugiere una fuerte coherencia interna. Los valores del alfa de Cronbach para cada dominio fueron: 0,890 ­ 0,913 ­ 0,951 y 0,922 para la atención visual, la comunicación visual, el procesamiento visual y la coordinación visomotora respectivamente; esto indica una buena consistencia interna para cada subdominio. Conclusión. La versión en idioma turco del cuestionario PreViAs es útil y confiable para evaluar la visión durante el periodo preverbal.


Introduction: Evaluating the visual functions of children with an easy-to-use and evidence-based method during the preverbal period will enable early diagnosis and intervention of visual impairments. The aim of this study is to determine the utility and reliability of the Turkish version of the Preverbal Visual Assessment (PreViAs) questionnaire, which was developed to evaluate the visual functioning of preverbal infants. Population and Methods: The PreViAs questionnaire was administered to primary caregivers of term infants under 24 months of age, and their responses were recorded. Results: Data from the 278 participating infants were analyzed to assess the internal consistency of the PreViAs questionnaire. Results showed a high level of consistency with Cronbach's alpha value of 0.958 for the total score, suggesting strong internal coherence. In addition, the Cronbach's alpha values for each domain were 0.890, 0.913, 0.951, and 0.922 for visual attention, visual communication, visual processing, and visual-motor coordination, respectively, indicating good internal consistency for each subdomain. Conclusion: The Turkish version of the PreViAs questionnaire is useful and reliable for assessing functional vision during the preverbal period.


Assuntos
Humanos , Recém-Nascido , Lactente , Cuidados Paliativos , Desempenho Psicomotor , Turquia , Inquéritos e Questionários , Reprodutibilidade dos Testes
2.
J Pediatr Endocrinol Metab ; 37(3): 271-275, 2024 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-38353247

RESUMO

OBJECTIVES: The fatty acid 2-hydroxylase gene (FA2H) compound heterozygous or homozygous variants that cause spastic paraplegia type 35 (SPG35) (OMIM # 612319) are autosomal recessive HSPs. FA2H gene variants in humans have been shown to be associated with not only SPG35 but also leukodystrophy and neurodegeneration with brain iron accumulation. CASE PRESENTATION: A patient with a spastic gait since age seven was admitted to the paediatric metabolism department. She was born to consanguineous, healthy Turkish parents and had no family history of neurological disease. She had normal developmental milestones and was able to walk at 11 months. At age seven, she developed a progressive gait disorder with increased muscle tone in her lower limbs, bilateral ankle clonus and dysdiadochokinesis. She had frequent falls and deteriorating school performance. Despite physiotherapy, her spastic paraplegia was progressive. Whole exome sequencing (WES) identified a homozygous NM_024306.5:c.460C>T missense variant in the FA2H gene, of which her parents were heterozygous carriers. A brain MRI showed a slight reduction in the cerebellar volume with no iron deposits. CONCLUSIONS: Pathogenic variants of the FA2H gene have been linked to neurodegeneration with iron accumulation in the brain, leukodystrophy and SPG35. When patients developed progressive gait deterioration since early childhood even if not exhibited hypointensity in the basal ganglia detected by neuroimaging, FA2H-related neurodegeneration with brain iron accumulation should be ruled out. FA2H/SPG35 disease is characterised by notable clinical and imaging variability, as well as phenotypic diversity.


Assuntos
Transtornos Heredodegenerativos do Sistema Nervoso , Paraplegia Espástica Hereditária , Criança , Feminino , Humanos , Pré-Escolar , Mutação , Paraplegia Espástica Hereditária/genética , Paraplegia Espástica Hereditária/patologia , Oxigenases de Função Mista/genética , Imageamento por Ressonância Magnética , Linhagem , Paraplegia , Ferro
3.
J Esthet Restor Dent ; 36(3): 494-502, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37950584

RESUMO

OBJECTIVE: The aim of this study is to examine the effect of designs using different esthetic dental proportions made with a digital smile design program on the esthetic perception of individuals of different ages, genders and educational statuses. MATERIALS AND METHODS: Different smile designs were made on facial photos taken of a female and male model using a smile design program. Four different dental proportions (golden proportion [GPR], golden percentage [GPE]), Preston proportion [P] and recurring esthetic dental proportion [RED]) and two different tooth shapes (oval and square) were used. Images with 16 different smile designs were presented to 4th and 5th-year students of a faculty of dentistry, dentists, specialist dentists and laypersons for scoring. RESULTS: The gender of the participants did not affect the scores given (p > 0.05), and participants over the age of 30 and lay people had higher scores (p < 0.05). The GPR design was scored lower than RED when all designs were subdivided by tooth shape and gender (p < 0.001). CONCLUSIONS: The esthetic perceptions of people of different ages and dentistry education levels may differ from each other. Using the GPR when designing a digital smile may not be suitable for both genders. CLINICAL SIGNIFICANCE: If esthetic dental proportions are to be utilized when designing a smile, it may be more appropriate to use the P and RED proportions instead of the GPR. In addition, if the patients whose smiles will be designed are young and have received dental education, it should be considered that their esthetic expectations may be high. Trial registration ClinicalTrials.gov Identifier: NCT0567043.


Assuntos
Estética Dentária , Feminino , Humanos , Masculino , Face , Percepção , Sorriso , Adulto
4.
Arch Argent Pediatr ; 122(3): e202310085, 2024 06 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37824432

RESUMO

Introduction: Evaluating the visual functions of children with an easy-to-use and evidence-based method during the preverbal period will enable early diagnosis and intervention of visual impairments. The aim of this study is to determine the utility and reliability of the Turkish version of the Preverbal Visual Assessment (PreViAs) questionnaire, which was developed to evaluate the visual functioning of preverbal infants. Population and Methods: The PreViAs questionnaire was administered to primary caregivers of term infants under 24 months of age, and their responses were recorded. Results: Data from the 278 participating infants were analyzed to assess the internal consistency of the PreViAs questionnaire. Results showed a high level of consistency with Cronbach's alpha value of 0.958 for the total score, suggesting strong internal coherence. In addition, the Cronbach's alpha values for each domain were 0.890, 0.913, 0.951, and 0.922 for visual attention, visual communication, visual processing, and visual-motor coordination, respectively, indicating good internal consistency for each subdomain. Conclusion: The Turkish version of the PreViAs questionnaire is useful and reliable for assessing functional vision during the preverbal period.


Introducción. La evaluación de la visión en los niños durante el periodo preverbal, con un método fácil de usar y basado en la evidencia, permitiría el diagnóstico temprano y la intervención en los trastornos visuales. El objetivo del estudio fue determinar la utilidad y confiabilidad de la versión en idioma turco del cuestionario Preverbal Visual Assessment (PreViAs), desarrollado para evaluar la visión en niños preverbales. Población y métodos. El cuestionario PreViAs se administró a los cuidadores primarios de niños nacidos de término, antes de los 24 meses de edad. Se registraron sus respuestas. Resultados. Se analizaron los datos de 278 participantes para evaluar la consistencia interna del cuestionario PreViAs. Se encontró un alto nivel de consistencia con un alfa de Cronbach de 0,958 para el puntaje total, lo que sugiere una fuerte coherencia interna. Los valores del alfa de Cronbach para cada dominio fueron: 0,890 ­ 0,913 ­ 0,951 y 0,922 para la atención visual, la comunicación visual, el procesamiento visual y la coordinación visomotora respectivamente; esto indica una buena consistencia interna para cada subdominio. Conclusión. La versión en idioma turco del cuestionario PreViAs es útil y confiable para evaluar la visión durante el periodo preverbal.


Assuntos
Cuidados Paliativos , Desempenho Psicomotor , Criança , Lactente , Recém-Nascido , Humanos , Reprodutibilidade dos Testes , Inquéritos e Questionários
5.
Mult Scler Relat Disord ; 81: 105149, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38096730

RESUMO

BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. CONCLUSION: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri­ or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.


Assuntos
Aquaporinas , Esclerose Múltipla , Neuromielite Óptica , Neurite Óptica , Humanos , Masculino , Adolescente , Feminino , Criança , Estudos Retrospectivos , Glicoproteína Mielina-Oligodendrócito , Bandas Oligoclonais , Turquia/epidemiologia , Neurite Óptica/diagnóstico , Esclerose Múltipla/complicações , Autoanticorpos , Metilprednisolona , Aquaporina 4 , Neuromielite Óptica/complicações
7.
Eur J Ophthalmol ; : 11206721231207507, 2023 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-37849301

RESUMO

PURPOSE: To evaluate the quantitative measurements obtained for vessel density (VD) of the optic nerve head, macula, peripapillary retinal nerve fibre layer (p-RNFL) and total retinal thicknesses (Trt) by optical coherence tomography angiography (OCT-A) and the choroidal vascular structure using an image binarization method in children with epilepsy using three different antiepileptic drugs (AEDs) and to compare these measurements with healthy participants. METHODS: This observational, cross-sectional study included 124 patients divided into 4 groups: Group-1: patients receiving carbamazepine(n = 30), group-2: patients receiving levetiracetam (n = 31), group-3: patients receiving valproic acid (n = 32), and group 4: healthy controls (n = 31).A fully automated microstructural analysis of the VD of the retinal superficial capillary plexus (SCP), deep capillary plexus (DCP), and the choriocapillaris (CC) layers and radial peripapillary capillary, and Trt, p-RNFL thickness were analyzed by using OCT-A. Enhanced depth imaging (EDI)-OCT scans of the macula were obtained and the images were binarized using the ImageJ software. RESULTS: The mean age, gender distribution and the duration of epilepsy were similar in all groups. Evaluation of the p-RNFL thickness and perifoveal Trt between the groups showed a statistically significant difference in all quadrants.The p-RNFL thickness was lower in patients receiving carbamazepine and valproic acid. The lowest values of the luminal area and choroidal vascular index (CVI) were found in patients receiving valproic acid; comparison with matched healthy controls showed statistically significant differences. CONCLUSION: Valproic acid and carbamazepine are associated with thinning of the p-RNFL in epilepsy patients, but the macular and radial peripapillary VD were not affected.However, a reduction of choroidal vascular blood flow was found in epilepsy patients taking valproic acid.

8.
North Clin Istanb ; 10(4): 411-417, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37719263

RESUMO

OBJECTIVE: The aim of this study is to evaluate the clinical, laboratory, and radiological findings and prognosis of patients with adenosine deaminase 2 deficiency (DADA2) and to highlight the conditions that DADA2 should be considered in the differential diagnosis in patients with neurological findings. METHODS: A case series of six DADA2 patients was presented in this retrospective, descriptive study. Clinical and laboratory data, treatment protocols, and prognosis of the patients were recorded. A diagnosis of DADA2 was established by ADA2 enzyme activity assay and/or ADA2 gene sequencing. RESULTS: Six patients with DADA2 were included in the study. The median age at symptom onset was 6.5 years (range 3.5-13.5 years). The median time to diagnosis from the initial presentation was 9 (3-72) months. Consanguinity was present in the families of 4 cases. The skin, nervous system, and musculoskeletal system were the most commonly involved systems. Vasculitis mimicking polyarteritis nodosa (PAN) was the predominant phenotype (n=4) in our case series. Four patients with PAN-like features had neurological involvement. Ischemic strokes were found in 3 patients, cranial nerve palsy in 2 patients, and seizures in 2 patients. The CECR1 gene was analyzed in all patients. We analyzed plasma ADA2 enzyme activity only in one patient. Anti-tumor necrosis factor (TNF)-α therapy was initiated. Inflammation was suppressed and remission was achieved in all patients. CONCLUSION: DADA2 should be considered in patients with PAN-like disease, a history of familial PAN/vasculitis, early-onset strokes/neurological involvement with systemic inflammation. Furthermore, anti-TNF-α therapy appears to be beneficial for the treatment of DADA2.

9.
Epilepsy Behav ; 148: 109444, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37748417

RESUMO

OBJECTIVE: This study aimed to examine the psychiatric diagnoses, parenting attitudes, family functioning among children and adolescents with epilepsy, coping styles of their mothers, and psychiatric symptoms of their mothers and fathers. METHODS: Forty children and adolescents between the ages of 8 and 18 with epilepsy and 40 healthy controls were included in the study. The clinical interview and other measurements were used to assess psychiatric disorders and familial factors. RESULTS: At least one psychiatric disorder was diagnosed in 65% of children and adolescents with epilepsy. It was determined that the mothers and fathers in the epilepsy group had higher anxiety and depression scores than the control group, and the fathers' hostility scores were also higher. The Family Assessment Device (FAD) (problem-solving and affective responsiveness), Coping Strategies Scale (COPE) (mental disengagement and substance use), and Parent Attitude Scale (PAS) (strictness/supervision) subtest scores of the epilepsy group were higher than the control group. CONCLUSION: Psychiatric comorbidities, especially depression, anxiety disorders, and attention deficit hyperactivity disorder, are more common in children and adolescents with epilepsy. The mental health of parents, parent-child relationships, family functioning, and parental coping styles were adversely affected in families with children with epilepsy. It is essential to evaluate psychiatric comorbidity and family factors in children with epilepsy and to create a treatment plan for problem areas.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Epilepsia , Feminino , Adolescente , Humanos , Criança , Pais/psicologia , Comorbidade , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Mães/psicologia , Adaptação Psicológica , Epilepsia/complicações , Epilepsia/epidemiologia , Epilepsia/psicologia
10.
J Pediatr Endocrinol Metab ; 36(7): 708-711, 2023 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-37193674

RESUMO

OBJECTIVES: Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative functions. The many clinical features of scurvy lead to frequent misdiagnoses, as they can often point to other diseases, such as vasculitis, venous thrombosis and musculoskeletal disorders. As such, an extensive workup is recommended in cases in which scurvy is suspected. CASE PRESENTATION: A 21-month-old male patient and a 36-month-old female patient presented with difficulty in walking, painful joint movements, irritability, gingival hypertrophy and bleeding. After exhaustive investigations and risky invasive procedures, vitamin C deficiency was diagnosed in both cases, and the symptoms improved dramatically with vitamin C treatment. CONCLUSIONS: The importance of taking a dietary history in pediatric patients is highly recommended. In cases where scurvy is considered, serum ascorbic acid levels should be checked to confirm the diagnosis prior to conducting invasive tests.


Assuntos
Deficiência de Ácido Ascórbico , Escorbuto , Humanos , Masculino , Criança , Feminino , Pré-Escolar , Lactente , Escorbuto/complicações , Escorbuto/diagnóstico , Escorbuto/tratamento farmacológico , Ácido Ascórbico/uso terapêutico , Vitaminas/uso terapêutico , Deficiência de Ácido Ascórbico/complicações , Deficiência de Ácido Ascórbico/tratamento farmacológico , Antioxidantes
11.
Mol Syndromol ; 14(2): 171-174, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37064335

RESUMO

Introduction: Succinate dehydrogenase deficiency, also known as mitochondrial complex II deficiency, is a rare inborn error of metabolism, accounting for approximately 2% of mitochondrial disease. Mutations in the four genes SDHA, B, C,and D have been reported resulting in diverse clinical presentations. The vast majority of clinically affected individuals reported in the literature harbor genetic variants within the SDHA gene and present with a Leigh syndrome phenotype, clinically defined as a subacute necrotizing encephalopathy. Case Report: Herein, we report the first case of a 7-year-old child who was diagnosed as having succinate dehydrogenase deficiency. The affected child presented at 1 year of age with encephalopathy and developmental regression following viral illnesses. MRI changes supported a clinical diagnosis of Leigh syndrome and c.1328C>Q and c.872A>C SDHA variants were identified as compound heterozygous. Mitochondrial cocktail treatment including L-carnitine, riboflavin, thiamine, biotin, and ubiquinone was started. Mild clinical improvement was observed after treatment. He is now unable to walk and speak. The second patient, a 21-year-old woman, presented with generalized muscle weakness, easy fatigability, and cardiomyopathy. Investigations revealed increased lactate level of 67.4 mg/dL (4.5-19.8) with repeatedly increased plasma alanine levels 1,272 µmol/L (200-579). We administered carnitine, coenzyme, riboflavin, and thiamine for empirical therapy with the suspicion of mitochondrial disease. Clinical exome sequencing revealed compound heterozygous variants NM_004168.4:c.1945_1946del (p.Leu649GlufsTer4) at exon 15 of the SDHA gene and NM_004168.4:c.1909-12_1909-11del at intron 14 of SDHA gene. Discussion and Conclusion: There are several very different presentations including Leigh syndrome, epileptic encephalopathy, and cardiomyopathy. Some cases present following viral illness; this feature is not specific to mitochondrial complex II deficiency and occurs in many other mitochondrial disease presentations. There is no cure for complex II deficiency, though some reported patients showed clinical improvement following riboflavin therapy. Riboflavin is not the only therapeutic intervention that is available to patients with an isolated complex II deficiency and various other compounds have shown promise in the treatment of symptoms, including L-carnitine and ubiquinone. Treatment alternatives such as parabenzoquinone EPI-743 and rapamycin are under study in the treatment of the disease.

12.
Photodiagnosis Photodyn Ther ; 42: 103582, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37119934

RESUMO

BACKGROUND: To investigate the vascular changes of the optic nerve head (ONH) and macula by using optical coherence tomography angiography (OCT-A), and also the choroidal vascular structure by using an image binarization tool in children with newly diagnosed epilepsy and to then compare these parameters with healthy subjects. METHODS: Forty-one epilepsy children and 36 healthy controls were included in this prospective and cross-sectional study.The radial peripapillary capillary (RPC) vessel density (VD) and macular foveal,parafoveal,perifoveal of superficial capillary plexus (SCP),deep capillary plexus (DCP) and choriocapillaris (CC) VD, and CC flow area were analyzed.Enhanced depth imaging (EDI) OCT scans of the macula were obtained and the images were binarized using the ImageJ software (National Institutes of Health, Bethesda, MD, USA).The subfoveal choroidal thickness (SFCT),the area of choroidal, luminal, and interstitial and the percentage of luminal area in the choroid (Choroidal vascular index (CVI)) were analyzed.We also evaluated the thickness of the peripapillary retinal nerve fiber layer (RNFL),the macular ganglion cell layer (GCL), and the inner plexiform layer (IPL). RESULTS: There was a significant decrease in the VD of the CC and the CC flow area in children with epilepsy compared to healthy subjects (p<0.05).However, the VD of the RPC, and of the SCP and DCP of the macula were similar between the two groups(p>0.05).The SFCT,choroidal area,luminal area, and CVI were statistically significant lower in children with newly diagnosed epilepsy compared to healthy subjects. CONCLUSION: This study has demonstrated that the choroidal perfusion from the microcirculation is lower in children with newly diagnosed epilepsy.The pathophysiology of epilepsy and neurodegenerative processes may also include this vascular dysfunction as one of the factors.


Assuntos
Fotoquimioterapia , Vasos Retinianos , Humanos , Criança , Vasos Retinianos/diagnóstico por imagem , Estudos Prospectivos , Estudos Transversais , Estudos de Casos e Controles , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes , Tomografia de Coerência Óptica/métodos , Perfusão , Angiofluoresceinografia/métodos
13.
Eur J Paediatr Neurol ; 41: 8-18, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36137476

RESUMO

BACKGROUND: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. AIM: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. METHOD: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015-2021) and previous (<2015) cohorts. RESULTS: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset <12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. CONCLUSION: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought.


Assuntos
Encefalomielite Aguda Disseminada , Esclerose Múltipla , Neuromielite Óptica , Masculino , Feminino , Humanos , Esclerose Múltipla/diagnóstico por imagem , Glicoproteína Mielina-Oligodendrócito , Imageamento por Ressonância Magnética , Autoanticorpos , Imunoglobulina G
14.
Am J Dent ; 35(1): 3-8, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35316584

RESUMO

PURPOSE: To evaluate the in vitro color stability and surface properties of bulk-fill resin composites after exposure to coffee and cola. METHODS: Color stability was evaluated in a conventional resin composite (Filtek Z250) and three bulk-fill resin composites (Filtek One Bulk Fill, Tetric N-Ceram Bulk Fill, and Beautifil Bulk Fill as giomer). Color change (CIEDE 2000 ΔE00) was calculated after 12 days of immersion in distilled water (control), coffee, or cola (Diet Coke). Water sorption (%Wsp) and solubility (%Wsl) ratios were calculated for each material in each solution. One sample of each material from each condition was observed with scanning electron microscopy and atomic force microscopy. Generalized linear modeling and Bonferroni correction were used for ΔE00 value analysis. One-way ANOVA and Kruskal Wallis tests were performed to analyze %Wsp and %Wsl ratios. RESULTS: Tetric N-Ceram Bulk Fill showed the highest ΔE00 value in distilled water. Beautifil Bulk Fill had the highest ΔE00 value in coffee and cola. Beautifil Bulk Fill had the highest %Wsl ratio. Filtek One Bulk Fill and Tetric N-Ceram Bulk Fill had the highest and lowest %Wsp ratios, respectively. Coffee and cola exposure had surface property-disrupting and discoloration effects on both conventional and bulk-fill resins. CLINICAL SIGNIFICANCE: Acidic beverages could negatively affect the surface properties of bulk-fill and conventional resin composites. The usage of the giomer composite might have disadvantages in terms of esthetics.


Assuntos
Bebidas , Água , Teste de Materiais , Solubilidade , Propriedades de Superfície
15.
Neuroendocrinology ; 112(11): 1078-1086, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35168243

RESUMO

BACKGROUND/AIMS: The aim of this study was to determine whether spontaneous and stimulated contractile activity of myometrium in epileptic rats is different from healthy ones, and whether antiepileptic drugs (AEDs) have any direct influence on myometrial contractility. METHODS: Myometrial strips from nonpregnant and pregnant adult epileptic WAG/Rij and Wistar rats were suspended in organ bath containing physiological salt solution (37°C and pH 7.4, aerated with 95% oxygen-5% CO2), and isometric contractions were recorded. Effects of cumulative concentrations of selected AEDs including phenytoin, levetiracetam, and valproic acid alone and in combination on oxytocin-induced contractions was examined. Contractile parameters assessed included the area under curve, amplitude, and frequency of contractions, evaluated by 10-min periods. Data were analyzed using one-way analysis of variance and Tukey HSD test. RESULTS: Spontaneous myometrial contractility and responses to oxytocin showed species difference. Compared with that of control Wistar rats, spontaneous contractions of myometrium from nonpregnant epileptic WAG/Rij rats were significantly higher while being significantly lower in pregnant preparations. Upon stimulation with oxytocin, WAG/Rij myometrium showed significantly lower contractile response compared with preparations from healthy control Wistars (p < 0.01). Phenytoin and valproate caused concentration-dependent significant attenuation (p < 0.05) of spontaneous and oxytocin-induced contractions of myometrium from WAG/Rij and Wistar rats, both nonpregnant and pregnant. CONCLUSION: Myometrial smooth muscle from epileptic rats showed different spontaneous and oxytocin-induced contractility, and AEDs showed contractile modulatory actions, phenytoin being the most and levetiracetam the least effective. Although in vitro, our findings may be of clinical implications with regard to obstetric complications in epileptics and use of AEDs during pregnancy, and warrants further investigations.


Assuntos
Anticonvulsivantes , Miométrio , Ocitocina , Animais , Feminino , Gravidez , Ratos , Anticonvulsivantes/farmacologia , Antifibróticos , Relação Dose-Resposta a Droga , Levetiracetam/farmacologia , Miométrio/efeitos dos fármacos , Miométrio/fisiologia , Ocitocina/farmacologia , Fenitoína/farmacologia , Ratos Wistar , Contração Uterina , Ácido Valproico/farmacologia , Técnicas In Vitro
16.
Epilepsy Behav ; 126: 108456, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34864626

RESUMO

BACKGROUND: Infantile Spasms Syndrome (ISS) encompasses both West syndrome (WS), comprising epileptic spasms, psychomotor stagnation or regression and hypsarrhythmia, and also infants presenting with epileptic spasms who do not fulfill the triad of WS. OBJECTIVE: To investigate the knowledge, attitude, and practice regarding ISS among Turkish pediatricians and pediatric residents. METHODS: A cross-sectional study was conducted among pediatricians and pediatric residents from all regions of Turkey. Knowledge, attitude, and practice (KAP) about ISS were assessed using a questionnaire including 45 questions. RESULTS: Out of 174 participants, 91.4% of respondents thought that ISS was a type of epilepsy. The two most recognized etiologic causes were structural abnormalities (90.8%) and genetic disorders (90.2%). Infantile colic (78.7%) and gastroesophageal reflux (75.9%) were reported to be the most common confusing diagnoses in this study. Almost all the respondents agreed that EEG recordings should be obtained for a patient with suspected ISS. Half of the participants stated that steroids were the first choice for treatment. Nearly all participants agreed on referring a pediatric patient with suspected ISS to a pediatric neurologist. CONCLUSION: Our findings highlight the importance of medical education as awareness is critical for diagnosing ISS. To facilitate rapid diagnosis, it is also important to combine medical education with public action. To ensure a sufficient level of knowledge about epileptic spasms and ISS, a strategy based on the socio-cultural characteristics of each population should be developed.


Assuntos
Espasmos Infantis , Criança , Estudos Transversais , Eletroencefalografia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Pediatras , Espasmo , Espasmos Infantis/genética , Turquia/epidemiologia
17.
Turk J Pediatr ; 63(3): 516-521, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34254499

RESUMO

BACKGROUND: Mild encephalopathy with a reversible splenial lesion (MERS) is a known clinical-radiological description. However, MERS with extensive lesions (MERS type-2) is rarely associated with adenovirus. There are only three published cases of MERS type-2 associated with adenovirus infection. CASE: We present a 10-year-old previously healthy girl who presented with speech difficulty and mild encephalopathy after three days of prodromal illness. The magnetic resonance imaging (MRI) revealed bilateral diffusion restriction in the parietal white matter, splenium and genu of the corpus callosum without mass effect and slight thickening at the splenium of corpus callosum with no contrast enhancement. With empirical and support treatment, her neurological examination was completely normal by the 18th hour. The nasopharyngeal respiratory adenoviral PCR resulted positive. She was discharged with total clinical and radiological resolution on the 10th day of admission. The case was diagnosed with MERS type-2 which is rarely associated with adenoviral infection. CONCLUSION: This report is the first case of adenovirus related MERS type-2 in a Turkish child. Pediatricians, child neurologists, child infection specialists and radiologists should recognize this condition to ensure appropriate diagnosis.


Assuntos
Infecções por Adenoviridae , Encefalopatias , Encefalite , Substância Branca , Adenoviridae , Infecções por Adenoviridae/complicações , Infecções por Adenoviridae/diagnóstico , Encefalopatias/diagnóstico , Encefalopatias/etiologia , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , Substância Branca/diagnóstico por imagem
18.
Microsc Res Tech ; 84(12): 2936-2946, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34105836

RESUMO

The consumption of certain beverages may affect the physical and biological properties of resin composites (RCs) according to type. This in vitro study aimed to evaluate the surface properties and cariogenic biofilm formation in microhybrid and nanohybrid RCs after immersion in different beverages. The effects of four beverages (distilled water-control, tea, coffee, and cola) on two RCs (microhybrid and nanohybrid) were evaluated. Changes in the surface properties were evaluated for each group using surface roughness measurement (n = 10), scanning electron microscopy (SEM) (n = 4) observation, and energy-dispersive X-ray spectroscopy (EDX) (n = 5) analysis. In vitro Streptococcus mutans biofilm formation on the specimens of each group was determined using confocal laser scanning microscopy and SEM analysis (n = 14). The data were analyzed using two-way analysis of variance, with Bonferroni as a post-hoc test and Pearson's correlation (p < .05). Microhybrid RC presented more surface roughness (p = .014) and cariogenic biofilm formation (p = .040). The surface roughness (F = 0.733, p = .536) and cariogenic biofilm formation (F = 1.685, p = .181) values were not affected by the beverages. However, according to qualitative SEM and EDX measurements, these parameters varied depending on the beverage groups. No correlation was found between surface roughness and cariogenic biofilm formation (r = 0.135, p = .287). Microhybrid RCs had a rougher surface and a higher amount of cariogenic biofilm formation than nanohybrid RCs after being subjected to different beverages.


Assuntos
Bebidas , Resinas Compostas , Biofilmes , Teste de Materiais , Propriedades de Superfície
19.
Int J Clin Pract ; 75(9): e14471, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34107136

RESUMO

OBJECTIVE: Although the initial reports of COVID-19 cases in children described that children were largely protected from severe manifestations, clusters of paediatric cases of severe systemic hyperinflammation and shock related to severe acute respiratory syndrome coronavirus 2 infection began to be reported in the latter half of April 2020. A novel syndrome called "multisystem inflammatory syndrome in children" (MIS-C) shares common clinical features with other well-defined syndromes, including Kawasaki disease, toxic shock syndrome and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. Our objective was to develop a protocol for the evaluation, treatment and follow-up of patients with MIS-C. METHODS: The protocol was developed by a multidisciplinary team. We convened a multidisciplinary working group with representation from the departments of paediatric critical care, cardiology, rheumatology, surgery, gastroenterology, haematology, immunology, infectious disease and neurology. Our protocol and recommendations were based on the literature and our experiences with multisystem inflammatory syndrome in children. After an agreement was reached and the protocol was implemented, revisions were made on the basis of expert feedback. CONCLUSION: Children may experience acute cardiac decompensation or other organ system failure due to this severe inflammatory condition. Therefore, patients with severe symptoms of MIS-C should be managed in a paediatric intensive care setting, as rapid clinical deterioration may occur. Therapeutic approaches for MIS-C should be tailored depending on the patients' phenotypes. Plasmapheresis may be useful as a standard treatment to control hypercytokinemia in cases of MIS-C with severe symptoms. Long-term follow-up of patients with cardiac involvement is required to identify any sequelae of MIS-C.


Assuntos
COVID-19 , Algoritmos , Criança , Humanos , SARS-CoV-2 , Síndrome , Síndrome de Resposta Inflamatória Sistêmica/diagnóstico , Síndrome de Resposta Inflamatória Sistêmica/terapia
20.
Turk J Med Sci ; 51(5): 2346-2350, 2021 10 21.
Artigo em Inglês | MEDLINE | ID: mdl-33932969

RESUMO

Background/aim: This study objected to compare the measurements of corpus callosum substructures of adolescents with migraine and healthy adolescents. Materials and methods: Materials and methodsIn a case-control design, adolescents aged 12­18 years with the diagnosis of migraine and healthy control group had brain magnetic resonance imaging examination. The CC dimensions including anteroposterior length, truncus, genu and splenium widths of the case and control groups were measured and compared. Results: The sample consisted of 188 adolescents, 109 girls (58.0%), and 79 boys (42.0%). Of these 87 (46.3%) were in the migraine group and 101 (53.7%) were in the healthy control group. The mean genu and splenium width of the migraine group were significantly lower than the control group (p = 0.024 and p = 0.01 respectively). Conclusion: The results of this study firstly demonstrated that CC splenium and genu widths were smaller in adolescents with migraine when compared to healthy adolescents. Our findings may contribute to enlighten migraine pathophysiology.


Assuntos
Corpo Caloso/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Transtornos de Enxaqueca/diagnóstico por imagem , Adolescente , Estudos de Casos e Controles , Feminino , Humanos , Masculino
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