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1.
Neurol Sci ; 45(5): 2271-2277, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38012464

RESUMEN

INTRODUCTION: Neurodevelopmental disorders (NDDs) refer to a broad range of diseases including developmental delay, intellectual disability, epilepsy, autism spectrum disorders, and attention-deficit/hyperactivity disorder caused by dysfunctions in tightly controlled brain development. The genetic backgrounds of NDDs are quite heterogeneous; to date, recessive or dominant variations in numerous genes have been implicated. Herein, we present a large consanguineous family from Turkiye, who has been suffering from NDDs with two distinct clinical presentations. METHODS AND RESULTS: Combined in-depth genetic approaches led us to identify a homozygous frameshift variant in NALCN related to NDD and expansion of dodecamer repeat in CSTB related to Unverricht-Lundborg disease (ULD). Additionally, we sought to functionally analyze the NALCN variant in terms of mRNA expression level and current alteration. We have both detected a decrease in the level of premature stop codon-bearing mRNA possibly through nonsense-mediated mRNA decay mechanism and also an increased current in patch-clamp recordings for the expressed truncated protein. CONCLUSION: In conclusion, increased consanguinity may lead to the revealing of distinct rare neurogenetic diseases in a single family. Exome sequencing is generally considered the first-tier diagnostic test in individuals with NDD. Yet we underline the fact that customized approaches other than exome sequencing may be used as in the case of ULD to aid diagnosis and better genetic counseling.


Asunto(s)
Discapacidad Intelectual , Trastornos del Neurodesarrollo , Síndrome de Unverricht-Lundborg , Humanos , Consanguinidad , Trastornos del Neurodesarrollo/genética , Trastornos del Neurodesarrollo/diagnóstico , Síndrome de Unverricht-Lundborg/genética , Discapacidad Intelectual/genética , Codón sin Sentido
2.
Eur J Pediatr ; 181(1): 383-391, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34355277

RESUMEN

Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1-3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians' influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029).Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known: • Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections. • Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases. What is New: • Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly. • Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.


Asunto(s)
Parálisis Cerebral , Vacunas contra Haemophilus , Parálisis Cerebral/epidemiología , Niño , Estudios Transversales , Vacuna contra Difteria, Tétanos y Tos Ferina , Humanos , Inmunización , Esquemas de Inmunización , Lactante , Vacuna Antipolio de Virus Inactivados , Estudios Prospectivos , Vacunación
3.
Klin Padiatr ; 234(4): 206-214, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35231937

RESUMEN

BACKGROUND: This study aimed to assess the risk factors for clinical seizures in newborns treated with whole body cooling (WBC) for hypoxic ischemic encephalopathy (HIE). METHODS: Infants with gestational age≥36 weeks and birth weight≥2.000 g who were treated with WBC due to HIE were retrospectively enrolled in this study. Patients were assigned to two groups: infants without clinical seizures (Group 1) and infants with clinical seizures (Group 2). The two groups were compared to determine the risk factors for the occurrence of clinical seizures. RESULTS: A total of 25 patients (Group 1=10 and Group 2=15) were included in the study. Prothrombin time (PT) was determined as independent risk factor for clinical seizures (p=0.046) and the odds ratio for the effect of PT was found as 1.475 (%95 CI:1.006-2.299). PT (area under the curve [AUC]=0.764; p=0.041), and increased cardiac troponin-I (cTnI) (AUC=0.935; p=0.002) were found to be significant risk factors for predicting the occurrence of clinical seizures. The optimal PT cut-off value was 22.7 sec, with a sensitivity and specificity of 45.4% and 90%, respectively; as well as positive and negative predictive value of 83.3% and 60.0%, respectively. The chest compression in the delivery room, severely abnormal amplitude integrated electroencephalography and high encephalopathy score were also found risk factors for occurrence of clinical seizures. CONCLUSION: Chest compression in the delivery room, high encephalopathy score, prolonged PT, and increased cTnI are significant factors for clinical seizures in newborns treated with WBC for HIE.


Asunto(s)
Hipotermia Inducida , Hipoxia-Isquemia Encefálica , Electroencefalografía , Humanos , Hipotermia Inducida/efectos adversos , Hipoxia-Isquemia Encefálica/diagnóstico , Hipoxia-Isquemia Encefálica/terapia , Lactante , Recién Nacido , Estudios Retrospectivos , Factores de Riesgo , Convulsiones/etiología , Convulsiones/terapia
4.
J Infect Chemother ; 27(2): 306-311, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33191111

RESUMEN

BACKGROUND: The clinical spectrum of COVID-19 has a great variation from asymptomatic infection to acute respiratory distress syndrome and eventually death. The mortality rates vary across the countries probably due to the heterogeneity in study characteristics and patient cohorts as well as treatment strategies. Therefore, we aimed to summarize the clinical characteristics and outcomes of adult patients hospitalized with laboratory-confirmed COVID-19 pneumonia in Istanbul, Turkey. METHODS: A total of 722 adult patients with laboratory-confirmed COVID-19 pneumonia were analyzed in this single-center retrospective study between March 15 and May 1, 2020. RESULTS: A total of 722 laboratory-confirmed patients with COVID-19 pneumonia were included in the study. There were 235 (32.5%) elderly patients and 487 (67.5%) non-elderly patients. The most common comorbidities were hypertension (251 [34.8%]), diabetes mellitus (198 [27.4%]), and ischemic heart disease (66 [9.1%]). The most common symptoms were cough (512 [70.9%]), followed by fever (226 [31.3%]), and shortness of breath (201 [27.8%]). Lymphocytopenia was present in 29.7% of the patients, leukopenia in 12.2%, and elevated CRP in 48.8%. By the end of May 20, 648 (89.7%) patients had been discharged and 60 (8.5%) patients had died. According to our study, while our overall mortality rate was 8.5%, this rate was 14.5% in elderly patients, and the difference was significant. CONCLUSIONS: This case series provides characteristics and outcomes of sequentially adult patients hospitalized with laboratory-confirmed COVID-19 pneumonia in Turkey.


Asunto(s)
COVID-19/epidemiología , Hospitalización/estadística & datos numéricos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antivirales/uso terapéutico , COVID-19/mortalidad , COVID-19/terapia , Comorbilidad , Diabetes Mellitus/epidemiología , Femenino , Humanos , Hipertensión/epidemiología , Laboratorios , Masculino , Persona de Mediana Edad , Isquemia Miocárdica/epidemiología , Neumonía Viral/epidemiología , Neumonía Viral/mortalidad , Estudios Retrospectivos , SARS-CoV-2 , Turquía/epidemiología , Adulto Joven
5.
Tuberk Toraks ; 69(3): 403-407, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34581163

RESUMEN

Tumefactive fibroinflammatory lesion (TFIL) is a rare idiopathic disease. These lesions clinically mimic malignant neoplasms, but they are characterized by benign histology while they cause local destruction. Its etiology is unknown, but it is thought to be an exaggerated immune response resulting from chronic infections. They are commonly seen in the head and neck area. Similar clinical and histologic findings are also present in IgG4-related disease. Here, it was aimed to present a 75-year-old male patient with chronic diseases including coronary artery disease and obesity. He was admitted to the thoracic surgery outpatient clinic with symptoms of chest pain, dyspnea, and swelling in the anterior chest wall. Imaging methods revealed a mass, which affected bone structures and showed increased 18-fluorodeoxyglucose (FDG) uptake, in the anterior of the left hemithorax. Surgical excision was performed because he met the clinical criteria of malignancy. No malignancy finding was identified in the histopathologic examination of the samples collected from the mass. In light of immunohistochemical and histopathologic findings, he was diagnosed as having TFIL. Treatment options for these lesions include steroids, surgery, and radiotherapy. They are persistent lesions associated with a high recurrence rate. We wanted to present this case because it is possible to recognize this rarely encountered lesion and increase awareness of the existence of such an entity.


Asunto(s)
Dolor en el Pecho , Anciano , Dolor en el Pecho/diagnóstico , Dolor en el Pecho/etiología , Fibrosis , Humanos , Masculino
6.
Turk J Med Sci ; 51(2): 857-863, 2020 04 30.
Artículo en Inglés | MEDLINE | ID: mdl-31655519

RESUMEN

Background/aim: We aimed to investigate the topical application of mitomycin-C (MMC) after the conventional tracheostomy in a rabbit model. Materials and methods: Twenty-four male New Zealand White rabbits were randomly divided among 3 equal groups (n: 8). Trache- ostomies were performed on 16 subjects. Group 1 which served as a control for all tracheal measurements. After tracheostomy, we applied sterile saline (group 2) or MMC at 0.8 mg/mL (group 3) around the tracheotomy site for 5 min. At the 3rd week after surgery, all tracheas were subjected to morphometric and histopathological examinations, including tracheal lumen diameter (LD), number of capillary vessels (CV), subepithelial tissue thickness (SETT), fibroblasts, and inflammatory cells (IC). Results: There was a statistically significant difference between the two tracheostomy groups themselves and the control group for LD (p = 0.035), CV (p = 0.006), SETT, fibroblasts, and IC (p < 0.001). Histopathological analysis showed the decreased LD, CV, SETT, IC, and fibroblasts compared to MMC with tracheostomy groups. MMC was more effective than saline for LD, CV, SETT, IC, and fibroblasts. Conclusion: Wound healing modulation may prevent scar formation. Fibrosis decreased following tracheostomy in the group treated with MMC. Fibroblasts appear to be key cells mediating these effects.

7.
J Hum Genet ; 64(5): 421-426, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30787422

RESUMEN

Intellectual disability (ID) is a genetically heterogeneous neurodevelopmental disorder characterised by significantly impaired intellectual and adaptive functioning. ID is commonly syndromic and associated with developmental, metabolic and/or neurological findings. Autosomal recessive ID (ARID) is a significant component of ID especially in the presence of parental consanguinity. Several ultra rare ARID associated variants in numerous genes specific almost to single families have been identified by unbiased next generation sequencing technologies. However, most of these new candidate ARID genes have not been replicated in new families due to the rarity of associated alleles in this highly heterogeneous condition. To determine the genetic component of ARID in a consanguineous family from Turkey, we have performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in an affected sibling. Eventually, we have identified a novel pathogenic variant in EEF1D, which has recently been recognised as a novel candidate gene for ARID in a single family. EEF1D encodes a ubiquitously expressed translational elongation factor functioning in the cytoplasm. Herein, we suggest that the loss of function variants exclusively targeting the long EEF1D isoform may explicate the ARID phenotype through the heat shock response pathway, rather than interfering with the canonical translational elongation.


Asunto(s)
Genes Recesivos , Enfermedades Genéticas Congénitas/genética , Discapacidad Intelectual/genética , Mutación con Pérdida de Función , Factor 1 de Elongación Peptídica/genética , Polimorfismo de Nucleótido Simple , Familia , Femenino , Enfermedades Genéticas Congénitas/metabolismo , Ligamiento Genético , Humanos , Discapacidad Intelectual/metabolismo , Masculino , Factor 1 de Elongación Peptídica/metabolismo , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo
8.
Neurol Sci ; 40(11): 2319-2324, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31240574

RESUMEN

OBJECTIVES: The aim of this study is to examine metabolite changes in different brain regions of the children with vitamin B12 deficiency disease using MR spectroscopy. METHODS: Eighteen children with serum vit. B12 deficiency and 12 healthy volunteer children were included in the study. All children were examined with single-voxel spectroscopy examination via 1.5-Tesla MRI. The spectra were obtained from the left frontal periventricular white matter, left lentiform nucleus and left cerebellar hemisphere. The comparisons between patient group and control group were made with ratios calculated as NAA/Cr, Cho/Cr, mI/Cr, and Glx/Cr. All brain images were also examined in terms of brain atrophy, abnormal brain parenchyma intensity changes, or myelination status. RESULTS: The children were between 3 months and 16 years old in the patient group, and between 3 months and 15 years old in the control group. There were no statistical differences in terms of metabolite ratios in the three different brain regions between the patients and control group. In two patients, periventricular white matter hyperintensities were observed. In four patients, brain atrophy was detected. DISCUSSION: MR spectroscopy examination demonstrated that there were no statistical differences in terms of all metabolite ratios in left frontal periventricular white matter, left lentiform nucleus and left cerebellar hemisphere.


Asunto(s)
Cerebelo/metabolismo , Cuerpo Estriado/metabolismo , Lóbulo Frontal/metabolismo , Deficiencia de Vitamina B 12/metabolismo , Sustancia Blanca/metabolismo , Adolescente , Estudios de Casos y Controles , Cerebelo/diagnóstico por imagen , Niño , Preescolar , Cuerpo Estriado/diagnóstico por imagen , Femenino , Lóbulo Frontal/diagnóstico por imagen , Humanos , Lactante , Espectroscopía de Resonancia Magnética , Masculino , Deficiencia de Vitamina B 12/diagnóstico por imagen , Sustancia Blanca/diagnóstico por imagen
9.
Epilepsy Behav ; 85: 110-114, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29940373

RESUMEN

OBJECTIVE: The aim of this study was to evaluate the carotid intima-media thickness together with the thickness of the epicardial adipose tissue in patients receiving antiepileptic drug therapy and to investigate the presence of increased cardiovascular risk in these patients. METHODS: The study included a total of 52 patients comprising 32 males and 20 females who were diagnosed as having epilepsy and who were using one or more antiepileptic drugs. The control group consisted of 34 healthy individuals comprising 16 males and 18 females. The individuals selected for the study group were requested to go to the hospital after overnight fasting. After blood sampling for serum lipid value, the carotid intima-media thickness was measured with high resolution B-mode ultrasonography and epicardial adipose tissue thickness with echocardiography in the patients and the control group subjects. RESULTS: The carotid intima-media thickness was determined as 0.47 ±â€¯0.05 mm in the patient group and 0.44 ±â€¯0.04 mm in the control group (p = 0.028). The carotid intima-media thickness was measured as 0.45 ±â€¯0.05 mm in patients with epilepsy taking monotherapy and 0.49 ±â€¯0.04 mm in those taking polytherapy (p = 0.003). The epicardial adipose tissue thickness was determined as 3.42 ±â€¯0.09 mm in the patient group and 1.72 ±â€¯0.90 mm in the control group (p = 0.000). The epicardial adipose tissue thickness was measured as 3.16 ±â€¯0.87 mm in patients with epilepsy taking monotherapy and 3.77 ±â€¯0.83 mm in those taking polytherapy (p = 0.041). CONCLUSIONS: It was determined that carotid intima-media thickness and epicardial adipose tissue thickness were significantly high in children with epilepsy taking long-term antiepileptic drugs. These results demonstrate that these patients could be at increased risk of the development of cardiovascular complications. There is a need for more extensive studies on this subject.


Asunto(s)
Tejido Adiposo/diagnóstico por imagen , Anticonvulsivantes/uso terapéutico , Grosor Intima-Media Carotídeo , Epilepsia/diagnóstico por imagen , Epilepsia/tratamiento farmacológico , Pericardio/diagnóstico por imagen , Tejido Adiposo/efectos de los fármacos , Adolescente , Anticonvulsivantes/efectos adversos , Arterias Carótidas/diagnóstico por imagen , Arterias Carótidas/efectos de los fármacos , Niño , Preescolar , Epilepsia/sangre , Femenino , Estudios de Seguimiento , Cardiopatías/sangre , Cardiopatías/inducido químicamente , Cardiopatías/diagnóstico por imagen , Humanos , Masculino , Pericardio/efectos de los fármacos , Factores de Riesgo
10.
Neurol Sci ; 39(12): 2123-2128, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30209698

RESUMEN

Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal storage disorder involving the white matter of the peripheral and the central nervous systems. It is caused by a deficiency of galactocerebrosidase enzyme activity. The most common manifestation is the classical early onset KD that leads to patient's loss before the age of 2. Herein, we report the evaluation of a consanguineous family with three affected children manifesting severe neurological findings that ended with death before the age of 2, in an attempt to provide genetic diagnosis to the family. One of the children underwent detailed physical and neurological examinations, including brain magnetic resonance imaging (MRI) and scalp electroencephalography (EEG) evaluations. GALC genetic testing on this child enabled identification of a novel homozygous variant (NM_000153.3: c.1394C>T; p.(Thr465Ile)), which confirmed diagnosis as KD. Familial segregation of this variant was performed by PCR amplification and Sanger sequencing that revealed the parents as heterozygous carriers. We believe this novel GALC variant will not only help in genetic counseling to this family but will also aid in identification of future KD cases.


Asunto(s)
Galactosilceramidasa/genética , Homocigoto , Leucodistrofia de Células Globoides/enzimología , Leucodistrofia de Células Globoides/genética , Mutación , Encéfalo/diagnóstico por imagen , Consanguinidad , Familia , Resultado Fatal , Femenino , Humanos , Lactante , Leucodistrofia de Células Globoides/diagnóstico por imagen , Masculino
11.
Neurol Sci ; 39(6): 1009-1014, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29520674

RESUMEN

This study aimed to determine the relationship between serum vitamin B12 level and tension-type headache. The study groups consisted of 75 patients (40 females, 35 males) with headache and a control group of 49 healthy children (25 females, 24 males). Serum vitamin B12 level < 200 pg/ml was defined as deficient, and < 160 pg/ml as severely deficient. The serum vitamin B12 level was measured by the electrochemiluminescence (ECLIA) method. The serum vitamin B12 levels in the headache and control groups were 273.01 ± 76.77 and 316.22 ± 74.53 pg/ml, with the difference determined as statistically significant (p = 0.003). In the case group, 18/75 patients (24%) had a serum vitamin B12 level below the normal of 200 pg/ml, and in the control group 4/49 (8%) patients were also below the normal range (p = 0.021). The serum vitamin B12 level in the children with tension-type headache was significantly lower than that in the control group. From the results of the study, it was concluded that there may be an association between vitamin B12 level and tension-type headache. However, further clinical studies are needed.


Asunto(s)
Cefalea de Tipo Tensional/sangre , Cefalea de Tipo Tensional/complicaciones , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/complicaciones , Vitamina B 12/sangre , Adolescente , Niño , Femenino , Humanos , Masculino , Estudios Prospectivos , Deficiencia de Vitamina B 12/tratamiento farmacológico
13.
Epilepsy Behav ; 47: 34-8, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26021463

RESUMEN

OBJECTIVE: Breath-holding spells are common paroxysmal events in children. Although the spells have a benign prognosis in the long term, they may be complicated by loss of consciousness, tonic-clonic movements, and occasionally seizures. Hence, this study aimed to measure the levels of serum S-100B proteins and neuropeptide-Y in the blood of children who experience breath-holding spells. METHODS: The study groups consisted of 45 patients (13 females, 32 males) with breath-holding spells and a control group of 32 healthy individuals (12 females, 20 males). The serum S-100B levels were measured using commercially available ELISA kits. The neuropeptide-Y levels in the serum were measured with RayBio® Human/Mouse/Rat Neuropeptide Y ELISA kits. RESULTS: The mean serum S-100B protein level of the breath-holding spells group was 56.38 ± 13.26 pg/mL, and of the control group, 48.53 ± 16.77 pg/mL. The mean neuropeptide-Y level was 62.29 ± 13.89 pg/mL in the breath-holding spells group and 58.24 ± 12.30 pg/mL in the control group. There were significant differences between the groups with respect to serum S-100B protein levels (p = 0.025), while there was no statistically significant difference in neuropeptide-Y levels between the breath-holding spells group and the control group (p = 0.192). CONCLUSIONS: The findings of this study suggest that frequent and lengthy breath-holding may lead to the development of neuronal metabolic dysfunction or neuronal damage which is most likely related to hypoxia. In light of these findings, future studies should be conducted using biochemical and radiological imaging techniques to support these results.


Asunto(s)
Neuropéptido Y/sangre , Respiración , Subunidad beta de la Proteína de Unión al Calcio S100/sangre , Convulsiones/sangre , Estudios de Casos y Controles , Niño , Femenino , Humanos , Hiperventilación/diagnóstico , Hipoxia , Hipoxia Encefálica/complicaciones , Hipoxia Encefálica/fisiopatología , Masculino , Convulsiones/fisiopatología
14.
J Pak Med Assoc ; 64(1): 91-4, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24605724

RESUMEN

Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypotonia. Episodic hyperpnoea attacks were observed in one case. Facial dysmorphism was the most common additional systemic anomaly and four cases had additional opthalmic findings. Brain MRI examination revealed that all cases had molar tooth sign, bat-wing appearance and vermian cleft. The majority of cases also had vermian hypoplasia. Cerebellar folial disorganisation was observed in approxiamtely half of the cases. Three cases had corpus callosum anomaly and atretic occipital encephalocoele. No pathology was determined in other organs. This study aimed to evaluate the clinical and radiological findings of 9 patients diagnosed with Joubert syndrome.


Asunto(s)
Enfermedades Cerebelosas/diagnóstico , Anomalías del Ojo/diagnóstico , Enfermedades Renales Quísticas/diagnóstico , Retina/anomalías , Anomalías Múltiples , Enfermedades Cerebelosas/complicaciones , Enfermedades Cerebelosas/diagnóstico por imagen , Enfermedades Cerebelosas/patología , Cerebelo/patología , Niño , Preescolar , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/patología , Femenino , Humanos , Discapacidad Intelectual/etiología , Enfermedades Renales Quísticas/complicaciones , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/patología , Imagen por Resonancia Magnética , Masculino , Destreza Motora , Radiografía , Retina/diagnóstico por imagen , Retina/patología
15.
Medicine (Baltimore) ; 103(17): e37964, 2024 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-38669403

RESUMEN

To investigate scoring systems and biomarkers for determining the severity and prognosis of acute pancreatitis (AP). Between January and July 2023, 100 patients with AP diagnosed and treated in the emergency department were included. AP was divided into 2 groups according to severity: mild AP and moderately severe AP (MSAP-SAP), according to the revised Atlanta Classification in 2012. Demographic characteristics, severity, intensive care unit (ICU) admission, white blood cell count (WBC), hematocrit, red cell distribution width from whole blood taken at admission and 48 hours later, C-reactive protein (CRP) and biochemistry values, Bedside Index for Severity in Acute Pancreatitis (BISAP), Pancreatitis Activity Scoring System (PASS), and harmless AP score scores were recorded retrospectively. Our variables, which were found to be significant in multiple logistic regression results, were found to increase MSAP-SAP expectation by 4.36-, 7.85-, 6.63 and 5.80 times in the presence of CRP > 47.10, WBC > 13.10, PASS > 0, and necrotizing computed tomography findings, respectively. It was detected that the risk factor which was found significant as a single variable affecting the ICU admission increased the risk of ICU requirement by 28.88 when PASS > 0, by 3.96 when BISAP > 1, and it increased the Atlanta score by 9.93-fold. We found that WBC and CRP values at the time of hospital admission and WBC, CRP, and red cell distribution width values after 48 had the highest accuracy in determining AP disease severity. BISAP, which was found to be significant in determining MSAP-SAP expectations, lost its significance in multiple logistic regression results, and PASS was found to be effective. The PASS is an important score in the clinical evaluation of patients with AP and in determining the need for ICU hospitalization.


Asunto(s)
Biomarcadores , Proteína C-Reactiva , Servicio de Urgencia en Hospital , Pancreatitis , Índice de Severidad de la Enfermedad , Humanos , Masculino , Femenino , Persona de Mediana Edad , Pancreatitis/sangre , Pancreatitis/diagnóstico , Biomarcadores/sangre , Estudios Retrospectivos , Proteína C-Reactiva/análisis , Adulto , Anciano , Unidades de Cuidados Intensivos/estadística & datos numéricos , Pronóstico , Enfermedad Aguda , Recuento de Leucocitos
16.
Nutrients ; 16(8)2024 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-38674915

RESUMEN

Background: In recent years, whole blood parameters and derivatives have been used as prognostic criteria in the course of various diseases. The aim of this study was to evaluate the relationship between parameters such as the neutrophil-lymphocyte ratio (NLR), the systemic immune-inflammation index (SII), the prognostic nutritional index (PNI), controlling nutritional status (CONUT) score, nutritional risk index (NRI) and immunonutrition status and disease activity in patients with ischemic stroke of the small-vessel, large-vessel and other etiologies. Methods: We retrospectively evaluated the records of 1454 consecutive ischemic stroke patients hospitalized in the emergency department of Gaziosmanpasa Education and Research Hospital from 2019 to 2023. Results: Of the 1350 patients with ischemic stroke included in the study, 58.8% had small-vessel disease, 29.3% had large-vessel disease and 11.9% had other etiologies. There was a significant difference between the three etiology groups for PNI and CONUT. The mean of PNI was 47.30 ± 8.06 in the other etiology group, 37.25 ± 7.23 in the small-vessel group, and 34.78 ± 8.16 in the large-vessel disease group. The mean of CONUT was 5.49 ± 1.20 in the small-vessel group, 5.12 ± 1.46 in the large-vessel group and 4.22 ± 1.11 in the other etiology group. In addition, CONUT and PNI were also found to be independent risk factors for mortality. A negative significant correlation was observed between PNI and NLR (r: -0.692), SII (r: -0.591), and CONUT (r: -0.511). Significant correlations were observed between CONUT and NLR (r: 0.402), SII (r: 0.312). Conclusions: PNI, CONUT and NRI were found as more accurate prognostic indicators of nutritional status in patients with ischemic stroke. NLR and SII may be important predictive markers in the course and prognosis of stroke.


Asunto(s)
Accidente Cerebrovascular Isquémico , Linfocitos , Neutrófilos , Evaluación Nutricional , Estado Nutricional , Humanos , Masculino , Femenino , Accidente Cerebrovascular Isquémico/sangre , Accidente Cerebrovascular Isquémico/mortalidad , Estudios Retrospectivos , Pronóstico , Persona de Mediana Edad , Anciano , Factores de Riesgo , Recuento de Linfocitos , Anciano de 80 o más Años
17.
Neuropediatrics ; 44(4): 187-90, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23504559

RESUMEN

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. Several factors influence the risk of chronic brain infection with the mutant measles virus. However, to date, no pathogenic mechanism that may predispose to SSPE has been determined. Studies have indicated that specific polymorphisms in certain host genes are probably involved in impairing the ability of host immune cells to eradicate the measles virus in SSPE patients. Programmed cell death protein 1 (PD-1), a member of the CD28 family, is a negative regulator of the immune system. The purpose of our study was to investigate whether PD-1 gene polymorphisms affect susceptibility to the development of SSPE in Turkish children. In total, 109 subjects (54 SSPE patients and 55 healthy controls) were genotyped for the PD-1.9 C/T (rs2227982) single-nucleotide polymorphism (SNP). The distributions of T alleles in the PD-1.9 polymorphism in SSPE patients and healthy controls were 2.8 and 10.9%, respectively. There was a statistically significant difference between the groups; the 95% confidence interval (CI) was 0.06 to 0.85 and the odds ratio (OR) was 0.23 (χ(2) test). Thus, we identified an association between SSPE and the PD-1 rs2227982 gene polymorphism; the frequency of T alleles was higher in controls than in SSPE patients.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Receptor de Muerte Celular Programada 1/genética , Panencefalitis Esclerosante Subaguda/genética , Adolescente , Niño , Electroencefalografía , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Panencefalitis Esclerosante Subaguda/diagnóstico
18.
Childs Nerv Syst ; 34(8): 1441-1442, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29948133
19.
Childs Nerv Syst ; 29(6): 1015-9, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23250250

RESUMEN

BACKGROUND: Breath-holding spells (BHS) are the most common form of non-epileptic paroxysmal events in infancy. The pathophysiology of BHS is not fully understood. Iron-deficiency anemia (IDA) may be a factor contributing to breath-holding spells. Although numerous reports have shown that elevated oxidative stress is implicated in the pathophysiology of neurodegenerative diseases and neurological conditions, such as epileptic seizures, brain damage, and neurotrauma, there are no data regarding the role of oxidative stress in the development of BHS. This study aimed to investigate oxidative stress in children with BHS. METHODS: This case-control study was conducted at the Department of Pediatric Neurology, Harran University School of Medicine, Sanliurfa, in Turkey. Blood samples from 31 patients (14 females, 17 males) with BHS which were taken at least 24 h after the BHS attack, and a control group of 35 healthy individuals (13 females, 22 males) were used for the measurement of the plasma total antioxidant capacity, total oxidant status, and oxidative stress index, hemoglobin concentration, serum iron, transferrin saturation and serum ferritin levels. RESULTS: The plasma total antioxidant capacity values were markedly lower and total oxidant status and oxidative stress index values in the BHS group were significantly higher than that in the controls (P ≤ 0.01). CONCLUSION: Our data suggest that the value of oxidative stress was significantly higher in patients with BHS than in the controls. Conditions associated with increased oxidative stress such as IDA may be a risk factor for the development of BHS.


Asunto(s)
Anemia Ferropénica/sangre , Anemia Ferropénica/complicaciones , Contencion de la Respiración , Estrés Oxidativo/fisiología , Trastornos Respiratorios/sangre , Trastornos Respiratorios/etiología , Antioxidantes/metabolismo , Estudios de Casos y Controles , Preescolar , Femenino , Hemoglobinas/metabolismo , Humanos , Lactante , Masculino , Oxidación-Reducción , Turquía
20.
J Pak Med Assoc ; 63(5): 594-7, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23757987

RESUMEN

OBJECTIVE: To evaluate the oxidative status following a seizure in children experiencing a simple febrile seizure. METHODS: The cross-sectional study was conducted at Harran University, Turkey, between January and September 2011. It comprised 32 paediatric patients who, within the preceding 8 hours, had experienced a seizure due to upper respiratory tract infection and had been diagnosed with simple febrile seizure, and 30 healthy children as the control group. Blood was taken from the patients 8 hours after the seizure. Total oxidant level and Total anti-oxidant level were measured according to the Erel technique and the oxidative stress index was calculated. Data was analysed using SPSS 11.5. RESULTS: The mean values of the total oxidant level and the oxidative stress index of the cases were found to be significantly high compared to the controls and the total anti-oxidant level was found to be significantly low (p < 0.01, p < 0.01, p < 0.03 respectively). CONCLUSION: The increased total oxidant level and decreased total anti-oxidant level resulting in increased oxidative stress associated with febrile seizure patients may increase the risk of experiencing febrile seizures.


Asunto(s)
Antioxidantes/metabolismo , Oxidantes/sangre , Convulsiones Febriles/sangre , Estudios de Casos y Controles , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Masculino , Otitis/complicaciones , Convulsiones Febriles/etiología , Tonsilitis/complicaciones
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