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1.
World Neurosurg ; 2023 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-37355172

RESUMO

BACKGROUND: There is a growing trend among patients and their families to seek medical information online. Among the world's most popular websites, YouTube is ranked second. Our aim was to assess the reliability and quality of YouTube videos on spina bifida. METHODS: Researchers searched the YouTube platform using 3 search keywords in February 2022. These were spina bifida, spina bifida treatment, and spina bifida surgery. The content of the first 35 videos for each search term was evaluated using the DISCERN scale. Two independent neurosurgeons with 6 years of experience in pediatric neurosurgery evaluated the content of the videos. RESULTS: Of the total 105 videos, 58 met the inclusion criteria and were evaluated. Of these videos, 3 (6.5%) received a score between 3 and4. This suggests that the video is reliable but missing important information. Only one (2.1%) of the videos had a mean score of >4, which refers to a high-quality source of information. It has been found that the popularity of the video was not correlated with whether it was broadcasted by health professionals or whether it has surgical content. The correlation between video popularity and DISCERN score was not significant (P = 0.361/0.401 based on the number of views; P = 0.459/0.606 based on the number of likes). CONCLUSION: Based on the results of this study, patients and their families will generally encounter low-quality educational content on YouTube when searching for information about spina bifida. Since videos on spina bifida are insufficient, we recommend to universities, hospitals, and academic societies publish reliable video education content to support and optimize patient education, in line with approved tools such as DISCERN.

2.
Eur J Med Genet ; 65(12): 104654, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36343887

RESUMO

Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early age. The factors that result in TART in CAH have not been completely understood. The aim of this study is to evaluate the genotype-phenotype correlation in CAH patients with TART. METHOD: Among 230 malepatients with CAH who were followed upwith regular scrotal ultrasonography in 11 different centers in Turkey, 40 patients who developed TARTand whose CAH diagnosis was confirmed by genetic testing were included in this study. Different approaches and methods were used for genotype analysis in this multicenter study. A few centers first screened the patients for the ten most common mutations in CYP21A2 and performed Sanger sequencing for the remaining regions only if these prior results were inconclusive while the majority of the departments adopted Sanger sequencing for the whole coding regions and exon-intron boundaries as the primary molecular diagnostic approach for patients with either CYP21A2 orCYP11B1 deficiency. The age of CAH diagnosis and TART diagnosis, type of CAH, and identified mutations were recorded. RESULTS: TART was detected in 17.4% of the cohort [24 patients with salt-wasting (SW) type, four simple virilizing type, and one with nonclassical type with 21-hydroxylase (CYP21A2) deficiency and 11 patients with 11-beta hydroxylase (CYP11B1) deficiency]. The youngest patients with TART presenting with CYP11B1 and CYP21A2 deficiency were of 2 and 4 years, respectively. Eight different pathogenic variants in CYP21A2were identified. The most common genotypes were c.293-13C>G/c.293-13C>G (31%) followed by c.955C>T/c.955C>T(27.6%) and c.1069C>T/c.1069C>T (17.2%). Seven different pathogenic variants were identified in CYP11B1. The most common mutation in CYP11B1 in our study was c.896T>C (p.Leu299Pro). CONCLUSION: We found that 83% TART patients were affected with SW typeCYP21A2 deficiency,and the frequent mutations detected were c.955C>T (p.Gln319Ter), c.293-13C>G in CYP21A2 and c.896T>C (p.Leu299Pro) inCYP11B1. Patients with CYP11B1 deficiency may develop TART at an earlier age. This study that examined the genotype-phenotype correlation in TART may benefit further investigations in larger series.


Assuntos
Hiperplasia Suprarrenal Congênita , Tumor de Resto Suprarrenal , Neoplasias Testiculares , Masculino , Humanos , Hiperplasia Suprarrenal Congênita/genética , Tumor de Resto Suprarrenal/genética , Tumor de Resto Suprarrenal/diagnóstico , Esteroide 11-beta-Hidroxilase/genética , Genótipo , Neoplasias Testiculares/genética , Neoplasias Testiculares/diagnóstico , Mutação , Esteroide 21-Hidroxilase/genética
3.
Pediatr Neurosurg ; 55(6): 388-392, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33271564

RESUMO

INTRODUCTION: "Human tail" is a congenital, benign anomaly in which a protrusion in the lumbosacrococcygeal caudal region is covered with skin. Arteriovenous hemangioma is a benign vascular lesion that may be congenital or acquired. We present a case in which a human tail was present with pathological findings of arteriovenous hemangioma. CASE REPORT: A 6-month-old girl was born with a curved tail-shaped protrusion along her waistline. The distal portion was purple and had a solid consistency; the proximal portion was of normal skin color and had a soft consistency. No other abnormality was observed in the spinal area. Microscopic examination revealed congested, proliferated vascular structures in the fibrous stroma distally located under the multilayered squamous epithelium. In the proximal area, mature lipomatous tissue was observed. The lesion was diagnosed as arteriovenous hemangioma. CONCLUSION: Our patient presented with the classic "human tail" appearance at an early age and in the lumbosacral region. Because of the pathological findings, surgery for the congenital anomaly had to be performed with extra caution.


Assuntos
Malformações Arteriovenosas , Hemangioma , Lipoma , Feminino , Hemangioma/diagnóstico por imagem , Hemangioma/cirurgia , Humanos , Lactente , Região Lombossacral/diagnóstico por imagem , Região Lombossacral/cirurgia
4.
Pediatr Neurosurg ; 55(5): 309-312, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33207345

RESUMO

INTRODUCTION: Primary intradiploic meningiomas account for <1% of all osseous calvarial lesions and are categorized as bone tumors. They are frequently observed in the frontotemporal region of the calvarium, anterior cranial fossa, and orbit. We present a case of intradiploic meningioma of the orbital roof, which is rarely observed in the pediatric age-group; it was surgically treated with a unique minimally invasive approach. CASE PRESENTATION: A 16-year-old male with chief complaints of headache on the right side for approximately 1 year was presented to our clinic. Cranial MRI revealed an intradiploic mass with homogeneous, hypointense contrast patterns on the T1W and T2W images of the right orbital roof. A skin incision was made through the right eyebrow, and the frontal sinus anterior wall was opened by craniotomy. Gross total resection was achieved by reaching the tumor present in the orbital roof. The mass was characterized as psammomatous meningioma by a pathological examination. DISCUSSION/CONCLUSION: In cranial oncologic surgery, lesion localization and possible pathological diagnosis are essential for the determination of the correct surgical technique. In particular, in pediatric cases, selecting a method that will reduce the need for transfusion, shorten the surgical time, minimize the chances of facial deformity, and facilitate postoperative care will ensure compliance with the correct and appropriate treatment process.


Assuntos
Sobrancelhas , Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Neoplasias Orbitárias/cirurgia , Adolescente , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Meningioma/diagnóstico por imagem , Órbita/diagnóstico por imagem , Órbita/cirurgia , Neoplasias Orbitárias/diagnóstico por imagem
5.
Pediatr Neurosurg ; 55(5): 237-243, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33147582

RESUMO

INTRODUCTION: Rotterdam CT score for prediction of outcome in traumatic brain injury is widely used for patient evaluation. The data on the assessment of pediatric traumatic brain injury patients with the Rotterdam scale in our country are still limited. In this study, we aimed to evaluate the use of the Rotterdam scale on pediatric trauma patients in our country and assess its relationship with lesion type, location and severity, trauma type, and need for surgery. METHODS: A total of 229 pediatric patients admitted to the emergency service due to head trauma were included in our study. Patients were evaluated in terms of age, gender, Glasgow Coma Scale (GCS), initial and follow-up Rotterdam scale scores, length of stay, presence of other traumas, seizures, antiepileptic drug use, need for surgical necessity, and final outcome. RESULTS: A total of 229 patients were included in the study, and the mean age of the patients was 95.8 months. Of the patients, 87 (38%) were girls and 142 (62%) were boys. Regarding GCS at the time of admission, 59% (n = 135) of the patients had mild (GCS = 13-15), 30.6% (n = 70) had moderate (GCS = 9-12), and 10.5% (n = 24) had severe (GCS < 9) head trauma. The mean Rotterdam scale score was calculated as 1.51 (ranging from 1 to 3) for mild, 2.22 (ranging from 1 to 4) for moderate, and 4.33 (ranging from 2 to 6) for severe head trauma patients. Rotterdam scale score increases significantly as the degree of head injury increases (p < 0.001). DISCUSSION: With the adequate use of GCS and cerebral computed tomography imaging, pediatric patients with a higher risk of mortality and need for surgery can be predicted. We recommend the follow-up of pediatric traumatic brain injury patients with repeated CT scans to observe alterations in Rotterdam CT scores, which may be predictive for the need for surgery and intensive care.


Assuntos
Lesões Encefálicas Traumáticas/diagnóstico por imagem , Lesões Encefálicas Traumáticas/terapia , Serviços Médicos de Emergência/normas , Escala de Coma de Glasgow/normas , Admissão do Paciente/normas , Adolescente , Criança , Pré-Escolar , Serviços Médicos de Emergência/métodos , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Resultado do Tratamento
6.
Arch Ital Biol ; 158(3-4): 74-81, 2020 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-33821469

RESUMO

Posterior fossa tumors (PFTs) include medulloblastomas, atypical teratoid/rhabdoid tumors, pilocytic astrocytomas, ependymomas, and brainstem gliomas. We evaluated patients with surgery at our clinic, comparing epidemiological, clinical, radiological, and pathological characteristics of medulloblastoma and ependymoma to identify factors that might assist preoperative diagnosis, help to develop treatment algorithms, and have prognostic value after surgery. Pediatric patients from 0 to 16 and young adults from 16 to 29 years of age with surgery for pathologically confirmed ependymomas or medulloblastomas between January 2014 and January 2020 were eligible. The study included 19 patients, seven with ependymoma (37%) and 12 with medulloblastoma (63.2%). The ependymoma patients were 5.29 ± 5.85 years of age, the medulloblastoma patients were 11.58 ± 8.17 years of age, and 16 patients (84%) were children.Fifteen patients (79%) presented with signs of increased intracranial pressure and four (21%) presented with cerebellar findings. MRI found that 74% (14) of the PSTs were located in the midline, including six of the seven ependymomas (86%) and eight of the 12 medulloblastomas (67%). Enhancement was significantly greater in medulloblastomas compared with ependymomas (p = 0.022). In according to pathology results; synaptophysin, NSE, chromogranin and 50% GFAP positivity were observed in medulloblastoma. Ependymomas were S100 (43%) and vimentin (29%) positive. Ependymoma patients were younger than medulloblastoma patients and more were female. There were no significant differences in the clinical findings, but ependymomas were larger and had greater rates of enhancement and spinal metastasis compared with medulloblastomas.


Assuntos
Neoplasias Cerebelares , Ependimoma , Meduloblastoma , Adolescente , Adulto , Neoplasias Cerebelares/diagnóstico , Criança , Pré-Escolar , Fossa Craniana Posterior , Diagnóstico Diferencial , Ependimoma/diagnóstico por imagem , Feminino , Humanos , Meduloblastoma/diagnóstico por imagem , Adulto Jovem
7.
World Neurosurg ; 126: e731-e735, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30851469

RESUMO

BACKGROUND: Revascularization before infarct development after cerebral ischemia may affect morbidity. The success of revascularization can be less than expected because of spontaneous thrombosis or restenosis with intimal hyperplasia. The aim of this study was to compare dabigatran etexilate, a direct thrombin inhibitor, with bemiparin sodium, a second-generation low-molecular-weight heparin, after carotid artery anastomosis. METHODS: This study used 24 randomly selected Sprague-Dawley rats. The rats were separated into 3 equal groups: group 1 (control group); group 2 (dabigatran group), in which dabigatran 10 mg/kg was orally administered for 7 days; and group 3 (bemiparin group), in which bemiparin 250 IU/kg was subcutaneously administered for 7 days. The right-side carotid artery of rats was used for anastomosis and the left-side carotid artery was used for the control. The carotid artery was explored and transected. Anastomosis was applied using 10/0 polypropylene sutures. After 7 days of treatment, the right and left carotid arteries were removed. Lumen diameter, lumen area, tunica media thickness, edema, vessel wall injury, intimal hyperplasia, thrombus, and inflammation were evaluated in tissue biopsy specimens. RESULTS: Bemiparin used after anastomosis caused less thickening of tunica media and reduced intimal hyperplasia but did not decrease lumen diameter and area. Dabigatran increased edema and inflammation but did not prevent intimal hyperplasia. CONCLUSIONS: Bemiparin reduced intimal hyperplasia and prevented thrombosis angiogenesis, but dabigatran did not prevent intimal hyperplasia, and its anticoagulation effect was more than the antithrombotic effect.


Assuntos
Anticoagulantes/farmacologia , Antitrombinas/farmacologia , Artérias Carótidas/efeitos dos fármacos , Revascularização Cerebral/métodos , Dabigatrana/farmacologia , Heparina de Baixo Peso Molecular/farmacologia , Neointima/prevenção & controle , Trombose/prevenção & controle , Animais , Anticoagulantes/uso terapêutico , Antitrombinas/uso terapêutico , Dabigatrana/uso terapêutico , Heparina de Baixo Peso Molecular/uso terapêutico , Ratos , Ratos Sprague-Dawley
8.
Pediatr Neurosurg ; 53(6): 413-415, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30176663

RESUMO

Factor XIII deficiency is a rare hemorrhagic disorder that can cause spontaneous intracranial hemorrhage and bleeding after surgery. The diagnosis of factor XIII deficiency is difficult before surgical interventions, because coagulation parameters are normal in these patients. Important clinical findings are postsurgical bleeding and recurrent spontaneous intracranial hematomas. These findings should raise the clinical suspicion of factor XIII deficiency. Therefore, diagnosis of factor XIII deficiency is very important for neurologists and neurosurgeons in terms of reducing mortality and morbidity. We present an 8-month-old female patient who developed subdural hematoma after ventriculoperitoneal shunt surgery but not bleeding after choroid plexus papilloma due to FXIII deficiency.


Assuntos
Deficiência do Fator XIII/complicações , Hematoma Subdural/diagnóstico por imagem , Papiloma do Plexo Corióideo/cirurgia , Deficiência do Fator XIII/sangue , Feminino , Hematoma Subdural/etiologia , Hemorragia , Humanos , Lactente , Hemorragias Intracranianas/etiologia , Papiloma do Plexo Corióideo/patologia , Derivação Ventriculoperitoneal/efeitos adversos
9.
Eurasian J Med ; 48(2): 107-11, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27551173

RESUMO

OBJECTIVE: Diagnoses of skin, mucosae, hair and nail manifestations in malignant diseases are often challenging because of life-threatening drug reactions, opportunistic infections or skin involvement of primary processes. Description of morphology, configuration and distribution of lesions is important in order to differentiate the self-healing eruptions from serious side effects of chemotherapy. There are case reports from Turkey including dermatological manifestations of malignancies and case series in adult patients but there are no published large group studies assessing all manifestations in children. The aim of this study was to evaluate the morphological features of dermatological findings in children with haemato-oncological diseases. MATERIALS AND METHODS: The study was performed at the Erciyes University, Faculty of Medicine Pediatric Hematology-Oncology Clinic, Turkey. Three dermatologists daily consulted all patients admitted to the clinic during a one-year period. RESULTS: The study group comprised of 157 children (79 female/78 male) aged 1-16 years (mean 7.19±4.63). Detailed dermatological examinations were performed, including oral-genital mucosae, hair and nails. Thorough skin examination revealed that 70% of the patients exhibited at least one dermatological finding. Generalized xerosis and hyperpigmentation were the most common findings among patients undergoing chemotherapy (24.19%). Multiple nevi on at least 10 covered areas were very frequent among patients undergoing long-term chemotherapy (18.47%). Three were identified as dysplastic nevus, but malignant transformation was not observed during the one-year study period. CONCLUSION: Regular dermatological consultation may help resolve the diagnostic and therapeutic problems in paediatric haemato-oncology clinics.

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