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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.
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Estética Dental , Femenino , Humanos , Masculino , Cara , Percepción , Sonrisa , AdultoRESUMEN
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.
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Trastorno por Déficit de Atención con Hiperactividad , Epilepsia , Femenino , Adolescente , Humanos , Niño , Padres/psicología , Comorbilidad , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Madres/psicología , Adaptación Psicológica , Epilepsia/complicaciones , Epilepsia/epidemiología , Epilepsia/psicologíaRESUMEN
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.
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Anticonvulsivantes , Miometrio , Oxitocina , Animales , Femenino , Embarazo , Ratas , Anticonvulsivantes/farmacología , Antifibróticos , Relación Dosis-Respuesta a Droga , Levetiracetam/farmacología , Miometrio/efectos de los fármacos , Miometrio/fisiología , Oxitocina/farmacología , Fenitoína/farmacología , Ratas Wistar , Contracción Uterina , Ácido Valproico/farmacología , Técnicas In VitroRESUMEN
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.
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Espasmos Infantiles , Niño , Estudios Transversales , Electroencefalografía , Conocimientos, Actitudes y Práctica en Salud , Humanos , Lactante , Pediatras , Espasmo , Espasmos Infantiles/genética , Turquía/epidemiologíaRESUMEN
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.
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Bebidas , Agua , Ensayo de Materiales , Solubilidad , Propiedades de SuperficieRESUMEN
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.
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COVID-19 , Algoritmos , Niño , Humanos , SARS-CoV-2 , Síndrome , Síndrome de Respuesta Inflamatoria Sistémica/diagnóstico , Síndrome de Respuesta Inflamatoria Sistémica/terapiaRESUMEN
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.
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Cuerpo Calloso/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Trastornos Migrañosos/diagnóstico por imagen , Adolescente , Estudios de Casos y Controles , Femenino , Humanos , MasculinoRESUMEN
Background/aim: This study aimed to analyze the serum melatonin levels and changes in sleep patterns in pediatric patients with coronavirus disease 2019 (COVID-19). Materials and methods: This study was designed as a descriptive, cross-sectional study. Serum melatonin levels and sleep parameters of children with the diagnosis of COVID-19 who had mild and moderate disease (i.e., COVID-19 group) were compared with those of children admitted with non-COVID-19 nonspecific upper respiratory tract infection (i.e., control group). The sleep disturbance scale for children (SDSC) questionnaire was applied to the participants> primary caregivers to analyze their sleep patterns at present and six months before symptom onset and to investigate the impact of COVID-19 on sleep patterns. Results: The entire study cohort consisted of 106 patients. The COVID-19 group included 80 patients, while the control group consisted of 26 patients. The mean serum melatonin levels were 136.72 pg/mL and 172.63 pg/mL in the COVID-19 and control groups, respectively (p = 0.16). There was no significant difference between the groups in terms of 6 subcategories of the SDSC questionnaire regarding the present time and 6 months before symptom onset. The total SDSC scores were also similar in two different evaluation time points described above (p = 0.99) Conclusions: We conclude that COVID-19 did not impact the sleep parameters of children. Serum melatonin levels of all patients were higher than the reference range; however, they were higher in the non-COVID-19 patient group than the COVID-19 group. Since serum melatonin levels were higher than the reference values in children with COVID-19, and this disease is significantly less morbid in children, melatonin may have protective effects against COVID-19.
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COVID-19/sangre , COVID-19/complicaciones , Melatonina/sangre , Trastornos del Sueño-Vigilia/complicaciones , Adolescente , Niño , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , Masculino , SARS-CoV-2 , Trastornos del Sueño-Vigilia/sangre , Encuestas y CuestionariosRESUMEN
Epilepsy is one of the most common neurological diseases in the world. False knowledge and attitudes related to epilepsy both complicate the social lives of patients and adversely affect their academic development. The aim of this study was to investigate the knowledge and attitudes of the medical students about epilepsy. Seven hundred twenty-three students participated in the study. A questionnaire including demographic information and Epilepsy Knowledge and Attitude Scales was given to the students. The first 3â¯years students were accepted as preclinical group, and the last 3â¯years were accepted as clinical group. Previously, the rate of hearing about epilepsy was 87.8%, and the reading rate was 69%. Both hearing and reading rates were higher in the clinical group. The total knowledge score was higher in all groups who had heard and read about epilepsy, witness an epileptic seizure, and know someone with epilepsy. The total attitude score did not change with witness an epileptic seizure and know someone with epilepsy. Though total knowledge score was similar between genders, total attitude score was higher in males. Although the total knowledge score was higher in the clinical group, the total attitude score was similar.
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Epilepsia/psicología , Conocimientos, Actitudes y Práctica en Salud , Estudiantes de Medicina/psicología , Adulto , Epilepsia/diagnóstico , Epilepsia/terapia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto JovenRESUMEN
BACKGROUND: Although there are data showing that the frequency of hypertension increases in adults with migraine, there has been no study on this subject in children. In this study, we aimed to evaluate the presence of hypertension in children with migraine by performing ambulatory blood pressure monitoring (ABPM). METHODS: Thirty-seven children diagnosed with migraine and 30 healthy controls were evaluated between January 2015 and March 2016. Demographic data, clinical and laboratory features, and physical examination findings were recorded for both groups. Office blood pressure was measured for all children, and each also underwent ABPM. The two groups were compared in terms of ambulatory blood pressure parameters. RESULTS: The mean age was 13.3 and 13.1 years and the proportion of females was 73% and 60% in the migraine and control groups, respectively. Although the frequency of hypertension was not higher, abnormal ABPM patterns were found to be significantly more frequent in the migraine group (migraine, 45.9%; control, 16.7%; p, 0.018). Nighttime mean arterial blood pressure, nighttime diastolic blood pressure, and non-dipping pattern were higher in children with migraine than those in the control group (p < 0.05). CONCLUSIONS: These results suggest that ambulatory blood pressure abnormalities may be present in almost half of patients with migraine. Therefore, we suggest that ABPM should be performed even if the office blood pressure measurements of children diagnosed with migraine are normal.
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Hipertensión/epidemiología , Trastornos Migrañosos/epidemiología , Adolescente , Presión Sanguínea , Monitoreo Ambulatorio de la Presión Arterial/métodos , Estudios de Casos y Controles , Niño , Femenino , Humanos , Hipertensión/diagnóstico , Masculino , Factores de RiesgoRESUMEN
Hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder which manifests in early infancy with generalized seizures, other symptoms of neuromuscular irritability, and growth disturbances. Homozygous mutations in the magnesium transporter gene, transient receptor potential melastatin 6 (TRPM6), cause the disease. Here, we present an 8-month-old Turkish boy with a novel mutation of TRPM6. The patient, son of first-degree cousins, was hospitalized because of recurrent seizures and mild hypotonia. He had seizures since the newborn period and he had been treated with phenobarbital but there was no favorable response to therapy. His past history also revealed hypocalcemia detected on the newborn period but serum magnesium levels were not studied at that time. During hospitalization, we detected hypocalcemia, hypomagnesemia, and normal parathormone levels. Abdominal ultrasound was normal. Magnesium excretion was slightly increased. Considering the consanguinity of the parents and clinical features of the patients, genetic testing of the TRPM6 gene was performed and a novel homozygous mutation was detected as c.3178A>T. He was started on magnesium and calcium supplementation and he is symptom-free for 1 year. We would like to call attention to the measurement of serum magnesium levels in children with hypocalcemic convulsions. Early and appropriate treatment with magnesium supplementation is crucial.
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Calcio/administración & dosificación , Hipocalcemia/etiología , Magnesio/sangre , Hipotonía Muscular/etiología , Convulsiones/etiología , Calcio/sangre , Humanos , Hipocalcemia/sangre , Hipocalcemia/diagnóstico , Hipocalcemia/tratamiento farmacológico , Lactante , Magnesio/administración & dosificación , Masculino , Hipotonía Muscular/sangre , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/tratamiento farmacológico , Fenobarbital/uso terapéutico , Convulsiones/sangre , Convulsiones/diagnóstico , Convulsiones/tratamiento farmacológico , Resultado del TratamientoRESUMEN
Background/aim: We aimed to investigate Internet addiction in pediatric patients with migraine- and tension-type headache in this study. Materials and methods: Among our 200 subjects, 103 had migraine-type headache and 97 had tension-type headache. Results: Headache triggered by computer use was more common in the migraine-type headache group. There was no difference between the Internet addiction scale score of the two groups. The Internet addiction scale scores of the patients were found to differ depending on the aim and duration of computer use. Internet addiction was found in six (6%) patients. Internet addiction prevalence was 3.7% and 8.5% in the two groups, respectively. Conclusion: The prevalence of Internet addiction in children with recurrent headache was lower than that found in their peers in Turkey, possibly due to avoidance of computer use as a headache trigger. This finding raises the question of whether migraine- or tension-type headaches actually prevent Internet addiction.
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Conducta Adictiva/complicaciones , Cefalea/etiología , Internet , Conducta Adictiva/epidemiología , Niño , Escolaridad , Femenino , Cefalea/epidemiología , Humanos , Internet/estadística & datos numéricos , Masculino , Trastornos Migrañosos/epidemiología , Trastornos Migrañosos/etiología , Prevalencia , Factores de Riesgo , Factores Sexuales , Cefalea de Tipo Tensional/epidemiología , Cefalea de Tipo Tensional/etiología , Turquía/epidemiología , Juegos de Video/efectos adversos , Juegos de Video/estadística & datos numéricosRESUMEN
AIM: The aim of the study was to identify the knowledge and attitudes of parents about epilepsy. METHODS: Our study was conducted as a questionnaire study with 1200 parents. The demographic information of the participants, their answers to general questions about epilepsy, and their self-reported epilepsy knowledge scale and epilepsy attitude scale data were evaluated. RESULTS: A total of 746 (62.2%) mothers and 454 (37.8%) fathers participated in the study. The mean age was 36.3⯱â¯9.2â¯years. The educational level was high school or higher in 65.3%. The mothers and the fathers had similar epilepsy knowledge levels and epilepsy attitude characteristics. The highest epilepsy knowledge level and the best attitudes about epilepsy according to the educational level was in the "university or higher" group. Moreover, a positive correlation was found between the epilepsy knowledge level and positive epilepsy attitudes of the parents. CONCLUSION: A more positive attitude and better knowledge about epilepsy with increasing educational level indicate that negative attitudes are caused by lack of information. Positive attitudes in the society toward patients with epilepsy would be expected to increase by ensuring a sufficient level of knowledge about epilepsy.
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Escolaridad , Epilepsia/psicología , Conocimientos, Actitudes y Práctica en Salud , Padres/psicología , Encuestas y Cuestionarios , Adulto , Epilepsia/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
PURPOSE: To evaluate the antimicrobial efficiency of three cleaning solutions and their effect on the physical properties of a denture base material. MATERIALS AND METHODS: A heat-cured polymethyl-methacrylate (PMMA) denture base material (Meliodent) and three cleaning solutions (alkaline-peroxide, 30 minutes; 1% sodium-hypochlorite, 10 minutes; and 0.1% polymeric-guanidine solution, 5 minutes) were used. For antifungal activity test, 40 disc-shaped specimens were fabricated and allocated into a control group (distilled water) and 3 experimental groups (n = 10) according to the cleaning solutions. Antifungal activity against Candida albicans (ATCC 2091) was assessed with colony-forming units. An additional 40 rectangular plate specimens were fabricated for mechanical tests. Ten specimens were kept intact to be used as the control group for flexural strength test. The remaining 30 specimens were distributed into three groups according to the cleaning solutions. The surface roughness and Vickers hardness of the specimens were consecutively measured after 48 hours of water storage at 37 ± 2°C (t0), two disinfection cycles (t1), and 7 days of storage (t2) in one of the solutions. Finally, all 40 rectangular specimens were subjected to flexural strength test. Data were analyzed with Kruskal-Wallis test for antifungal activity, ANOVA for flexural strength test, and analysis of covariance for surface roughness and hardness tests. Significance was set at 0.05. RESULTS: The antifungal activities of polymeric guanidine and sodium hypochlorite were comparable to each other and significantly higher than alkaline peroxide (p < 0.05). The changes in the surface roughness of the specimens were statistically comparable among the cleaning solutions and time periods (p > 0.05); however, the decrease in the Vickers hardness of the specimens stored in sodium hypochlorite was significantly higher from t0 to t1 and t0 to t2 (p < 0.05) than other groups, resulting in comparable hardness changes. The flexural strengths of all groups were comparable with the control after t2 (p > 0.05). CONCLUSION: The use of polymeric guanidine disinfectant solution could be an alternative method for cleaning PMMA denture base materials.
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Candida albicans/efectos de los fármacos , Bases para Dentadura , Limpiadores de Dentadura/farmacología , Metilmetacrilatos , Antifúngicos/farmacología , Guanidina/farmacología , Humanos , Metilmetacrilatos/química , Peróxidos/farmacología , Hipoclorito de Sodio/farmacología , Resistencia a la Tracción/efectos de los fármacosRESUMEN
Headache is one of the most common causes of presentation to the physician in children. We aimed to evaluate the dynamic thiol/disulfide homeostasis with a new method in children with headache and also to investigate the relationship between the headache type, pain severity and duration in our study. We included 40 patients diagnosed with migraine, 40 patients diagnosed with tension-type headache (TTH) and 40 healthy children in the study. No significant difference was found between the total thiol, native thiol, and disulfide levels of the patient and control groups. However, the disulfide/native thiol and disulfide/total thiol ratios were higher in the migraine group than in the TTH and control groups. No correlation was found between the Pediatric Migraine Disability Assessment (PedMIDAS) score and the headache duration and any of the thiol/disulfide parameters. A negative correlation was found between the total thiol and native thiol levels and the PedMIDAS score in the TTH group. Migraine and TTH patients have different effect to thiol/disulfide homeostasis.
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Disulfuros/metabolismo , Homeostasis/fisiología , Trastornos Migrañosos/metabolismo , Trastornos Migrañosos/fisiopatología , Compuestos de Sulfhidrilo/metabolismo , Cefalea de Tipo Tensional/fisiopatología , Adolescente , Niño , Femenino , Humanos , Masculino , Estadísticas no ParamétricasAsunto(s)
Hipocalcemia/diagnóstico , Deficiencia de Magnesio/congénito , Hipotonía Muscular/genética , Convulsiones/genética , Canales Catiónicos TRPM/genética , Calcio/administración & dosificación , Calcio/sangre , Consanguinidad , Pruebas Genéticas , Humanos , Hipocalcemia/complicaciones , Hipocalcemia/tratamiento farmacológico , Hipocalcemia/genética , Lactante , Magnesio/administración & dosificación , Magnesio/sangre , Deficiencia de Magnesio/complicaciones , Deficiencia de Magnesio/diagnóstico , Deficiencia de Magnesio/tratamiento farmacológico , Deficiencia de Magnesio/genética , Masculino , Hipotonía Muscular/sangre , Hipotonía Muscular/tratamiento farmacológico , Convulsiones/sangre , Convulsiones/tratamiento farmacológico , Resultado del TratamientoRESUMEN
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.
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Cuidados Paliativos , Desempeño Psicomotor , Niño , Lactante , Recién Nacido , Humanos , Reproducibilidad de los Resultados , Encuestas y CuestionariosRESUMEN
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.