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/epidemiologiaRESUMO
BACKGROUND: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a rare clinicoradiological syndrome that typically presents with central nervous system symptoms such as loss of consciousness, seizure, headache, and ophthalmoparesis. METHODS: Here, we highlight the characteristics of this syndrome together with the clinical and MRI findings of 6 pediatric patients with MERS. RESULTS: Between January 2017 and October 2020, 6 patients with MERS (3 boys and 3 girls) presented to our center. The mean age was 122 ± 54.6 (min-max: 44-180) months. None of the patients had a chronic disease. In our study, infectious agents were detected in 4 patients (66.6%), while noninfectious causes (one seizure and the other hyponatremia) were detected in two patients. All of our cases were discharged without any sequelae after an average of 12.1 ± 7 (min-max: 4-20) days of hospitalization. In 1 patient (case 6), control MRI could not be performed, and the radiological recovery of our other patients was shown to be between 14 days and 2 months. DISCUSSION: MERS is an acute encephalopathy with good prognosis and should be considered by neurologists in differential diagnosis due to its variable clinical presentation and specific MRI findings.
Assuntos
Encefalopatias , Encefalite , Encefalopatias/complicações , Encefalopatias/etiologia , Criança , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Encefalite/diagnóstico , Encefalite/etiologia , Encefalite/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Convulsões , SíndromeRESUMO
BACKGROUND AND AIM: Although anyone can be affected by the COVID-19 pandemic, it may cause additional concern for people with chronic conditions. Epilepsy is the most common neurological disease in childhood and adolescence. The aim of this study was to determine anxiety levels among the mothers of children under follow-up for epilepsy in our clinic during the COVID-19 pandemic. METHODS: The study group consisted of the mothers of epilepsy patients who were under follow-up in the pediatric neurology outpatient clinic of the tertiary care center and were scheduled for a routine examination during the COVID-19 pandemic. The mothers' anxiety levels according to the Beck Anxiety Inventory and their opinions about COVID-19 in relation to their child were assessed and compared based on whether the mother/patient attended their appointments in person and whether the child had frequent or infrequent seizures. RESULTS: There was no statistically significant difference in anxiety level between the mothers of 64 children with epilepsy who attended their appointment during the pandemic and those of the mothers of 52 who did not attend their appointment. However, the mothers of children with frequent seizures had significantly higher anxiety levels. CONCLUSION: Anxiety level of mothers whose children have frequent seizures was significantly higher compared to mothers whose children have infrequent seizures. It is important to be aware about this point and using telemedicine approach in suitable population and postpone routine outpatient follow-up appointments as much as possible.
Assuntos
Ansiedade , COVID-19/psicologia , Epilepsia , Mães/psicologia , Adolescente , Adulto , Ansiedade/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Pessoa de Meia-Idade , SARS-CoV-2 , Inquéritos e Questionários , Adulto JovemRESUMO
Background/aim: Acute necrotizing encephalopathy is a rare type of acute encephalopathy characterized by multi-ocal brain lesions and associated severe neurological findings and various organ dysfunctions may accompany it. Materials and Methods: Patients with acute necrotizing encephalopathy of childhood diagnosed by pediatric neurology and pediatric intensive care at Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between 2007 and 2020 were included in this study. Results: Nine patients (six females, three males) with a mean age of 4.05 ± 1.94 years (age range 16.5) were included in this study. The interval range between fever and encephalopathy in patients was 14 days. Influenza A (3H1N1, one untyped) was detected in four patients, influenza B in three patients, and no cause was found in two patients. Major clinical findings other than febrile encephalopathy in all patients were a hemodynamic shock in seven patients, seizures in six patients, vomiting in five patients, dystonia in three patients, and flaccid paralysis in the upper extremity in one patient. Despite all our treatment approaches, including plasmapheresis, moderate to severe neurological sequelae was observed in all of our patients, who survived even with significant radiological improvement. Three patients for whom we could not perform plasmapheresis died. Conclusion: Our study revealed that thalamic involvement increased as the interval shortened, and brainstem involvement increased in patients over four years of age. The presence of persistent vomiting accompanying encephalopathy during the parainfectious period and plasmapheresis treatment being a treatment option that could prevent mortality were cautionary for our study.
Assuntos
Encefalopatias/diagnóstico , Febre/etiologia , Influenza Humana/diagnóstico , Leucoencefalite Hemorrágica Aguda/diagnóstico , Vômito/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Vírus da Influenza A , Vírus da Influenza B , Masculino , Gravidez , Convulsões/etiologiaRESUMO
Hearing loss can occur in newborns exposed to high-level noise; noise exposure can cause more physiological stress and can lead to DNA damage. This study was designed to determine DNA damage in newborn rats exposed to sound at different concentrations. For this purpose, 28 newborn (3-6 days old) rats were divided into four groups of 7 rats in each group (Control and Groups of 40 decibel (dB), 70 dB, and 110 dB]. In the experimental groups, 40 dB, 70 dB, and 110 dB (7.5-15 kHz) of sound was applied to the experimental groups for 30 min a day for 7 days. DNA damage levels in the serums obtained from this study were determined by the enzyme-linked immunosorbent assay (ELISA) method. According to this, it was determined that DNA damage in the group exposed to 110 dB showed a statistically significant increase (P < 0.05) compared to the compared to the control, 40 dB, and 70 dB groups. Related to the subject, it was concluded that DNA damage may occur in newborns exposed to 110 dB or higher sound in neonatal units, wards, and home environments with newborn babies. Mothers should be warned about this situation and noise should be kept under 110 dB volume in the environments with the newborns.
Assuntos
Dano ao DNA , Ruído/efeitos adversos , 8-Hidroxi-2'-Desoxiguanosina , Animais , Animais Recém-Nascidos , Desoxiguanosina/análogos & derivados , Desoxiguanosina/sangue , Perda Auditiva Provocada por Ruído/etiologia , Estresse Oxidativo , Ratos , Fatores de TempoRESUMO
BACKGROUND: Brucellosis is the most common zoonotic disease worldwide and remains an important human disease especially in developing countries. The aim of the present study was to evaluate clinical manifestations and laboratory findings of childhood brucellosis in Van province of Eastern Turkey. To our knowledge, this is the largest series of childhood brucellosis reported in the literature. METHODS: In this retrospective study, 496 children with brucellosis were assessed for the clinical manifestations and laboratory findings from July 2009 through December 2013. The diagnosis of brucellosis was based on clinical findings and a standard tube agglutination test (titer ≥ 1:160). Data were analyzed using Minitab version 16. RESULTS: The study included 496 children (boys, 60.5%) with a mean age of 10.0 ± 3.95 years (range, 1-16 years). The most frequent clinical symptoms were arthralgia (46.2%), fever (32.1%), and abdominal pain (17.1%) and the most common clinical signs were peripheral arthritis (10.1%), splenomegaly (2.2%) and hepatomegaly (1.8%). The most contagious seasons were summer and autumn (63.3%). Elevated lactate dehydrogenase and C-reactive protein and erythrocyte sedimentation rate were reported in 63.1%, 58.7%, and 55.2% of the patients, respectively. Anemia (20.4%), thrombocytopenia (15.5%), and leukopenia (12.1%) were the most common hematologic findings. CONCLUSIONS: Brucellosis remains a serious public health problem in Turkey. The clinical and laboratory characteristics of childhood brucellosis have been described in order to assist clinicians in diagnosing and monitoring the disease.
Assuntos
Anemia/etiologia , Brucelose/diagnóstico , Febre/etiologia , Leucopenia/etiologia , Trombocitopenia/etiologia , Adolescente , Anemia/diagnóstico , Anemia/epidemiologia , Brucelose/complicações , Brucelose/epidemiologia , Proteína C-Reativa/metabolismo , Criança , Pré-Escolar , Feminino , Febre/diagnóstico , Febre/epidemiologia , Seguimentos , Humanos , Incidência , Lactente , Recém-Nascido , Leucopenia/diagnóstico , Leucopenia/epidemiologia , Masculino , Estudos Retrospectivos , Trombocitopenia/diagnóstico , Trombocitopenia/epidemiologia , Turquia/epidemiologiaRESUMO
Lyme borreliosis, which is more prevalent in the northern hemisphere, is the most common tick-borne contagious disease among people living in the North America and Europe. The causative agent of Lyme borreliosis, Borrelia burgdorferi, is transmitted by the bites of ticks of the genus Ixodes. In Turkey, the seroprevalence of Lyme disease is increased in regions where ticks and tick-bite cases are prevalent. The present study aimed to determine the seroprevalence of Lyme borreliosis in people at risk, living in the rural areas of Van province, which is located in the eastern region of Turkey. No previous study on this topic has been performed in our province. The study included a total of 446 subjects (mean age: 39.6±15.5 years), of them 139 were male and 307 were female, living in the rural areas of Van province between January 2012 and July 2012. The serum samples collected from participants after informed consent were screened for the presence of B.burgdorferi IgG antibodies by ELISA method. Western blot (WB) method was used for the confirmation of positive or borderline positive samples, and also for the investigation of IgM antibodies. During the study, the individuals from whom samples were taken, were questioned whether they have ever been exposed to tick or insect bite. B.burgdorferi IgG positivity was detected in 17 (3.8%) of the cases, whereas it was within the limit values in 14 cases. A total of 31 samples which yielded positive and borderline positive results were retested by WB and 4 (12.9%) were detected as positive while 10 (32.3%) of the samples were indeterminate. B.burgdorferi IgM antibody positivity was not detected in any of the samples. Considering the WB as reference method, the rate of B.burgdorferi IgG seropositivity was estimated as 0.9% (4/446). Three of these four cases were defined as tick or insect bites. The seroprevalence rate of B.burgdorferi detected in the present study was low as compared to the results of the other studies reported from Turkey. The reason of this result might be from the geographical characteristics and the differences of tick fauna in our region. As a result, it was concluded that our province is not endemic for Lyme borreliosis, however for the reduction of tick exposure, emphasis must be placed on preventive health services for the individuals at risk.
RESUMO
OBJECTIVE: Psychometric properties of the Turkish version of the Child PTSD Symptom Scale (CPSS) were examined in a sample of young individuals who experienced a severe earthquake. METHOD: Subjects were 479 children and adolescents recruited from schools after 18 months of Van earthquake. Mean age was 12.83 (SD±1.88), ranging from 8 to 18. RESULTS: Psychometric features were generally good for the CPSS. The original three-factor structure was replicated in this study. Internal consistency of the scale was good (ranged from α=.70 to α=.89 for total and subscale scores). The CPSS demonstrated good convergent validity with Child Post-Traumatic Stress Disorder Reaction Index scores as well as good divergent validity with the State and Trait Anxiety Inventory for Children and Child Depression Inventory. As an evidence for a good discriminant validity, the CPSS successfully distinguished high PTSD individuals from low PTSD individuals. CONCLUSION: The CPSS had sound psychometric properties in a Turkish youth population.
Assuntos
Ansiedade/psicologia , Depressão/psicologia , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Transtornos de Estresse Pós-Traumáticos/psicologia , Adolescente , Ansiedade/diagnóstico , Criança , Depressão/diagnóstico , Análise Fatorial , Feminino , Humanos , Masculino , Inventário de Personalidade , Psicometria , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Inquéritos e Questionários , Traduções , TurquiaRESUMO
OBJECTIVE: Paroxysmal non-epileptic events (PNEs) are a group of disorders that may be misdiagnosed as epilepsy. This study has aimed to assess the knowledge and practices of family physicians and pediatricians regarding the diagnosis, treatment, and follow-up of PNEs in children. METHODS: The study was designed as a prospective cross-sectional study that was conducted between March 1, 2022, and June 1, 2022, by reaching pediatric specialists and assistants, family physicians, subspecialty assistants, and subspecialists using a Google questionnaire. The survey consists of 26 questions. The questionnaire used by the researchers was prepared in accordance with the literature search and it included detailed questions on the diagnosis, treatment, and differential diagnosis of PNEs. RESULTS: A total of 37.3% worked as specialists. Most of the participants (41.3%) have worked in training and research hospitals, and 44.3% have been physicians for 6-10 years. The mean and standard deviation for the total score were 10.1 ± 2.6. The scores of family physicians were statistically lower than those of specialists, subspecialty assistants, and subspecialists. A total of 67.2% left the decision of whether the patient should stop taking their medication to another clinician. 45% of the doctors said that they were uncomfortable with the diagnosis. SIGNIFICANCE: The study findings emphasized the significant knowledge gap among healthcare providers regarding PNEs in children, highlighting the need for targeted educational interventions to improve their understanding and diagnostic skills in this area.
Assuntos
Epilepsia , Convulsões , Criança , Humanos , Convulsões/diagnóstico , Estudos Transversais , Estudos Prospectivos , Epilepsia/diagnóstico , Pessoal de Saúde , EletroencefalografiaRESUMO
Introduction: Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterized by 5-oxoprolinuria. The inherited condition of 5-oxoprolinuria, or pyroglutamic aciduria, is primarily caused by mutations in the genes that encode glutathione synthetase (GSS) and 5-oxoprolinase (OPLAH), which are enzymes involved in the gamma-glutamyl cycle in glutathione metabolism. We report a 3-year-old male patient with epilepsy and speech difficulty diagnosed as primary 5-oxoprolinuria due to a novel OPLAH gene mutation. Case Presentation: A 3-year-old boy who was delivered at full term in an uncomplicated birth to consanguineous parents presented with epilepsy at the age of 2 years. He did not speak fluently. He was using 5-10 words with decreased language fluency. His past medical history revealed postnatal macrocephaly, hydrocephalus, and well-controlled epilepsy with levetiracetam. Progressive cerebral atrophy, hypomyelination, ventriculomegaly, and corpus callosum hypoplasia were striking features in brain MRI. A urine sample was sent for organic acid analysis by gas chromatography-mass spectrometry (GC-MS); quantitation of 5-oxoproline by stable isotope dilution gave a value of 177.9 mmol/mol creatinine (reference values 25.8-92.2). Molecular genetic analysis of the OPLAH gene revealed a novel homozygous variant (OPLAH (NM_017570.5): c.1909C>T p.Arg637Trp). Conclusion: We conclude that inherited 5-oxoprolinase deficiency is not a benign biochemical condition, and patients with 5-oxoprolinuria should be screened for it. The nature of this inherited metabolic disorder must be determined through long-term observation. We wish to emphasize the significance of molecular genetic analysis in symptomatic patients with persistently elevated levels of 5-oxoproline in the urine, as measured by organic acid analysis.
RESUMO
Background: Electrical status epilepticus in sleep (ESES) is an epileptic syndrome specific to childhood and has a broad clinical spectrum that included seizures, behavioral/cognitive impairments, and motor neurological symptoms. Antioxidants are seen as promising neuroprotective strategies for the epileptic state by combating the harmful effects of excessive oxidant formation in mitochondria. Objective: This study aims to evaluate the thiol-disulfide balance and to determine whether it can be used in the clinical and electrophysiological follow-up of patients with ESES, especially in addition to the electroencephalography (EEG) examination. Methods: The study included 30 patients, aged 2-18 years and diagnosed with ESES in the Pediatric Neurology Clinic of the Training and Research Hospital and a control group of 30 healthy children. Total thiol, native thiol, disulfide, and ischemia-modified albumin (IMA) levels were measured, and disulfide-thiol ratios were calculated for both groups. Results: Native thiol and total thiol levels were significantly lower and IMA level and disulfide-native thiol percentage ratio were significantly higher in the ESES patient group than in the control group. Conclusion: Serum thiol-disulfide homeostasis is an accurate marker of oxidative stress in ESES, and standard and automated measures of thiol-disulfide balance as an indicator of oxidative stress showed a shift toward oxidation in ESES patients in this study. The negative correlation between spike-wave index (SWI) and thiol levels, and serum thiol-disulfide levels suggest that they can be used as biomarkers for follow-up of patients with ESES in addition to EEG. IMA can also be used for long-term response to monitoring purposes at ESES.
Assuntos
Albumina Sérica , Estado Epiléptico , Criança , Humanos , Biomarcadores , Homeostase , Sono , DissulfetosRESUMO
OBJECTIVE: This study aimed to examine the timing and features of electroencephalography (EEG) as a predictor of seizure recurrence in children with a first unprovoked seizure. METHODS: We retrospectively evaluated the medical records and EEG recordings of pediatric patients who presented within 24 h of a first unprovoked seizure between January 2018-December 2019 and had at least 1 year of pediatric neurology clinical follow-up. RESULTS: The study included 108 patients (53.7% males) with a mean age of 98.75±57.75 months. Sixty-eight patients (63%) had an abnormal initial EEG, of which 55 (80.9%) were focal. The semiology of the first unprovoked seizure was focal in 50% of the patients and correlated with initial EEG findings (p<0.001). Forty-three patients had seizure recurrence during the follow-up period of mean 26.86±7.39 months. Recurrence was observed in the first 6 months in 30 patients and occurred twice in 4 patients. An abnormal EEG after the first unprovoked seizure was found to be an independent risk factor for recurrence, with a 2.42-fold higher recurrence risk in patients with focal EEG abnormalities compared to those with a normal EEG (p = 0.044). Analysis of 7 different timing patterns up to 96 h after the first unprovoked seizure showed that EEG timing was not associated with abnormality detection. DISCUSSION: Our study showed that EEG abnormalities, especially focal abnormalities, after a first unprovoked seizure are a predictor of seizure recurrence. But the rate of detection of EEG abnormalities was not related to the timing of EEG recording, relative to seizure occurrence.
Assuntos
Eletroencefalografia , Convulsões , Masculino , Criança , Humanos , Feminino , Estudos Retrospectivos , Recidiva , Convulsões/diagnóstico , Fatores de RiscoRESUMO
BACKGROUND AND AIM: Autism spectrum disorder (ASD) is among the serious clinical pictures of early childhood, and its main symptoms are qualitative dysfunction in social interactions with impairment of verbal and nonverbal communication and limitations in interests and activities. METHODS: This study aimed to examine the clinical conditions that mediate this comorbidity, compare parental quality of life in isolated ASD and ASD with epilepsy, demonstrate the relationships between clinical and EEG findings obtained in diagnostic evaluation, and examine the results in light of the literature. RESULTS: The study sample consisted of 154 ASD patients; 26 were girls (16.9 %) and 128 (83.1 %) were boys. Of the patients with epilepsy, seizures were focal in 14 patients (9.1 %), generalized in 9 patients (5.8 %), and unspecified in 1 patient (0.6 %). Intellectual ability was found to be a significant predictor of epilepsy diagnosis. Mean (SD) total scores in the Quality of Life in Autism Questionnaire were 131.84 (10.68) among mothers of children with ASD-epilepsy and 148.33 (14.03) among mothers of children with ASD alone (P < .001). CONCLUSION: Many psychiatric and medical conditions can co-occur with ASD. Determining the prognostic criteria for ASD is of great importance in coordinating lifelong autism rehabilitation. Improving autism-specific symptoms will benefit children with ASD as well as help mitigate parental anxiety.
Assuntos
Transtorno do Espectro Autista , Epilepsia , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Criança , Pré-Escolar , Epilepsia/epidemiologia , Feminino , Humanos , Masculino , Pais , Percepção , Qualidade de VidaRESUMO
AIM: Longitudinally extensive transvers myelitis (LETM) is a rare and disabling condition in childhood. The aim of the present study was to share experiences from our center regarding the treatment features and clinical and radiologic course in our LETM patients in light of the literature data. MATERIAL AND METHOD: The study was designed as cross-sectional and included children who followed for LETM at our pediatric neurology clinic between 2010 and 2019. ATM was diagnosed according to the diagnostic criteria report from the Transverse Myelitis Consortium Working Group. LETM was defined as the presence of spinal cord lesions spanning a length of 3 or more consecutive vertebral segments. The patients' medical records were examined in terms of demographic characteristics, presenting symptoms, history of infection prior to and during LETM, prodromal history, neurological examination, laboratory and radiological findings, clinical course, and treatment. The Barthel Index was used to assess the physical independence in activities of daily living of patients with LETM who were followed for at least one year. RESULTS: A total of 15 (8 girl) patients were included in the study. The patients were between 1 and 17 years of age. Presenting symptoms included inability to walk in 12 patients, incontinence in 9 patients, low back pain in 4 patients, abdominal pain in 2 patients, and inability to use the arms in 2 patients. In Barthel Index assessment of physical independence in activities of daily living, 8 patients were evaluated as completely independent, 3 patients as moderately dependent, and 2 patients as slightly dependent. When the 4 patients with motor area impairment and moderate dependency according to the Barthel Index were examined, it was noted that all of them had been admitted 4 days after the onset of symptoms and that 2 (13.3%) had cervicothoracic involvement and 2 (13.3%) had involvement of the entire cord. CONCLUSION: Shorter delay from symptom onset to initiation of immunomodulatory therapy as well as effective rehabilitation resulted in favorable outcomes, with the most noticeable improvement in the areas of motor function and incontinence.
Assuntos
Mielite Transversa/complicações , Mielite Transversa/terapia , Atividades Cotidianas , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Atividade Motora , Mielite Transversa/diagnóstico , Avaliação de SintomasRESUMO
BRAT1-related neurodevelopmental disorders are characterized by heterogeneous phenotypes with varying levels of clinical severity. Since the discovery of BRAT1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498), these variants have also been identified in patients with milder clinical forms including neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS, OMIM 618056), epilepsy of infancy with migrating focal seizures (EIMFS), and congenital ataxia (CA). This study aims to examine the consequences and pathogenicity of a novel homozygous splice site variant in BRAT1 in a patient presenting with migrating focal seizures since birth without prominent rigidity. The patient was born from a consanguineous marriage and has had seizures since the neonatal period. He presented with dysmorphic features, pontocerebellar hypoplasia, and migrating focal seizures. Despite supportive treatment, his symptoms rapidly progressed to intractable myoclonic seizures, bouts of apnea and bradycardia, and arrest of head growth, with no acquisition of developmental milestones. Clinical exome sequencing yielded a novel homozygous splice variant in BRAT1. Genetic analysis based on reverse transcription of the patient's RNA followed by PCR amplifications performed on synthesized cDNA and Sanger sequencing was undertaken, and the functional effect of a BRAT1 variant on splicing machinery was demonstrated for the first time. The severe clinical presentation of migrating focal seizures and pontocerebellar hypoplasia in the absence of rigidity further expands the genotypic and phenotypic spectrum of BRAT1-related neurodevelopmental disorders.
Assuntos
Proteínas Nucleares/genética , Espasmos Infantis/genética , Consanguinidade , Evolução Fatal , Humanos , Lactente , Recém-Nascido , Masculino , MutaçãoRESUMO
BACKGROUND: Childhood stroke causes significant morbidity and mortality. In this study, we aimed to define the presenting findings, causes, risk factors and motor outcomes of our patients. METHODS: We retrospectively analysed patients aged from 1â¯month to 18â¯years who were diagnosed as having the first onset of stroke between January 2006 and December 2015. Presenting features, causes, risk factors, recurrence rate and motor outcomes were recorded. Motor outcome was evaluated by the gross motor function classification system. RESULTS: Forty-seven children were included in the study. Thirty-eight (78.7%) children had an arterial stroke, 9 (19.1%) had a venous stroke. The median age at the time of presentation was 60â¯months (3-214). Thirty-two patients (68%) presented with a focal neurological sign and 9 presented with seizure (19.1%). Patients who had a venous stroke presented with more diffuse neurological symptoms than those who had an arterial stroke. At least one risk factor for stroke was identified in 74.5% of the patients; the most common causative factor was prothrombotic state seen in 16 patients (33.5%). Stroke recurred in 5 patients (10.6%); coexistence of multiple factors was a risk factor for recurrence. Presenting with seizure was not a facilitator for epilepsy. Thirty-two (68%) patients had a favourable motor outcome. Younger age (24â¯months versus 114â¯months) and presenting with focal neurological signs were related to non-favourable motor outcome. CONCLUSION: Our cohort demonstrates that most of the children had a risk factor for stroke and have had favourable motor outcome. However, younger age and presenting with focal seizures are related to non-favourable motor outcome.
Assuntos
Atividade Motora , Recuperação de Função Fisiológica , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/fisiopatologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Recidiva , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/etiologiaRESUMO
The aim of this study was to determine the prevalence of Helicobacter pylori among children and their family members and to evaluate some epidemiologic characteristics. The study included 275 children, aged 1-15 year(s), suffering from different gastrointestinal complaints. Blood serology and stool antigen testing were used for the diagnosis of infection due to H. pylori. Sixty-five (23.6%) of the 275 children were positive for H. pylori, and this positivity had a significantly increasing correlation with age (p<0.001). H. pylori-associated infection was observed among 45 (69.2%) and 17 (8%) mothers in the H. pylori-infected and non-infected groups respectively (p<0.0001). Most children and their families infected with H. pylori were living in an urban area. The findings suggest that infection due to H. pylori is a problem for this district area, and all children having any gastrointestinal complaints should be examined whether H. pylori was prevalent among their family members.
Assuntos
Infecções por Helicobacter/epidemiologia , Helicobacter pylori/patogenicidade , Adolescente , Antígenos de Bactérias/imunologia , Criança , Pré-Escolar , Fezes/microbiologia , Feminino , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/transmissão , Helicobacter pylori/imunologia , Humanos , Lactente , Masculino , Prevalência , População Rural , Turquia/epidemiologia , População UrbanaRESUMO
BACKGROUND/AIM: The purpose of this study was to determine the most frequent food and inhalant allergens leading to allergic sensitization in children in Van Province of Turkey. MATERIALS AND METHODS: The study included 1052 serum samples with no diagnosis of allergy. The sera were tested with the Euroline Pediatric IgE test kit (EUROIMMUN, Germany). By using the EUROLineScan digital evaluation system, the intensity of bands was calculated with enzyme allergosorbent test classification. RESULTS: Out of the 1052 tested sera, 143 were found to be cross-reactive carbohydrate determinant-positive and were discarded from the study. Of the remaining 909 sera, 513 (56%) were from males and 296 (44%) were from females. Among the food allergens, specific IgE was most frequently found against codfish, potato, cow's milk, egg yolk, egg white, and rice, and among the inhalant allergens against cats, dogs, grass mix, Dermatophagoides pteronyssinus, and Aspergillus fumigatus, respectively. CONCLUSION: The finding of codfish being the most frequent allergen was related to the high consumption of trout in the region and endemicity of pearl mullet in Lake Van. The results obtained could contribute to determining the etiology of allergic diseases. Additionally, regular analysis of changes in allergen sensitization is important for prevention of allergic disease.
Assuntos
Hipersensibilidade Alimentar , Alérgenos , Animais , Criança , Feminino , Humanos , Imunoglobulina E , Masculino , TurquiaRESUMO
Ecthyma gangrenosum is a cutaneous lesion often associated with pseudomonas aeruginosa bacteremia, even though it may develop without bacteremia and may originate from other bacterial and fungal organisms. Pseudomonas aeruginosa bacteremia or sepsis, which mainly affects immunocompromised patients, frequently occurs in hospitals. This lesion typically occurs on the extremities and gluteal and perineal regions. In this report we present a case of ecthyma gangrenosum in a premature newborn occurring secondary to pseudomonas sepsis causing sucking dysfunction due to tissue loss in the lip, soft palate, and tongue.
RESUMO
Objective. Recently, community and hospital-acquired infections with Staphylococcus aureus have increased and raised antibiotic resistant isolates. In this study, we aimed to evaluate the antibiotic resistance profile of S. aureus isolates over several years in various clinical specimens from our hospital. Materials and Methods. S. aureus strains from 2009 to 2014 were isolated from various clinical samples at Yuzuncu Yil University, Dursun Odabas Medical Center, Microbiology Laboratory, and their antibiotic susceptibility test results were retrospectively investigated. The isolates were identified by conventional methods, and antibiotic susceptibility tests were performed by the Phoenix (Becton Dickinson, USA) automated system method according to Clinical and Laboratory Standards Institute (CLSI) standards. Results. A total of 1,116 S. aureus isolates were produced and methicillin-resistant S. aureus (MRSA) to 21% of all S. aureus isolates between 2009 and 2014. According to the results of susceptibility tests of all isolates of S. aureus, they have been identified as sensitive to vancomycin, daptomycin, linezolid, and levofloxacin. While the resistance rates to nitrofurantoin, quinupristin-dalfopristin, and trimethoprim-sulfamethoxazole were determined as 0.3%, 2.4%, and 6%, respectively, resistance rates to penicillin, erythromycin, rifampicin, gentamicin, and clindamycin were determined as 100%, 18%, 14%, 14%, and 11%, respectively. The highest percentage of methicillin resistance was determined as 30% in 2009, and the resistance was determined to have decreased in subsequent years (20%, 16%, 13%, 19%, and 21%) (p < 0.001). Conclusion. Currently, retrospective evaluations of causes of nosocomial infection should be done periodically. We think that any alteration of resistance over the years has to be identified, and all centers must determine their own resistance profiles, in order to guide empirical therapies. Reducing the rate of antibiotic resistance will contribute to reducing the cost of treatment.