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OBJECTIVES: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT). METHODS: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers. RESULTS: In this study, 93.3â¯% of patients were female, with typical RTT found in 70â¯% of cases. Genetic etiology revealed MECP2, FoxG1, and CDKL5 in 93.8â¯%, 2.7â¯%, and 1.8â¯% of cases, respectively. Atypical RTT clinics were observed in 50â¯% of male cases, with the first EEG being normal in atypical RTT cases (p = 0.01). Generalized tonic-clonic and myoclonic epilepsy were the most common seizure semiologies, while absence and focal epilepsy were less prevalent. Valproate, levetiracetam, lamotrigine, and clobazam were the most commonly used antiepileptic drugs, affecting the severity and frequency of seizures (p = 0.015, p=<0.001, p = 0.022, and p=<0.001, respectively). No significant differences were observed in EEG findings. The initiation of anti-seizure medications significantly altered seizure characteristics (Table 4). A ketogenic diet and vagal nerve stimulation (VNS) correlated with a 50â¯% improvement in cognitive function, while steroid treatment showed a 60â¯% improvement. Remarkably, seizures were substantially reduced after VNS application. CONCLUSION: This study underscores the importance of genetic diagnosis in RTT cases with a clinical diagnosis. These preliminary results will be further validated with the inclusion of clinically diagnosed RTT cases in our ongoing study.
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Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey. The genetic analysis included the whole-exome sequencing (WES), targeted next-generation sequencing (NGS), or single gene analysis. Sixty-four patients with PCH were 28 female (43.8%) and 36 (56.3%) male. The patients revealed homozygous mutation in 89.1%, consanguinity in 79.7%, pregnancy at term in 85.2%, microcephaly in 91.3%, psychomotor retardation in 98.4%, abnormal neurological findings in 100%, seizure in 63.8%, normal biochemistry and metabolic investigations in 92.2%, and dysmorphic findings in 51.2%. The missense mutation was found to be the most common variant type in all patients with PCH. It was detected as CLP1 (n = 17) was the most common PCH related gene. The homozygous missense variant c.419G > A (p.Arg140His) was identified in all patients with CLP1. Moreover, all patients showed the same homozygous missense variant c.919G > T (p.A307S) in TSEN54 group (n = 6). In Turkey, CLP1 was identified as the most common causative gene with the identical variant c.419G > A; p.Arg140His. The current study supports that genotype data on PCH leads to phenotypic variability over a wide phenotypic spectrum.
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BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. CONCLUSION: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.
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Aquaporinas , Esclerose Múltipla , Neuromielite Óptica , Neurite Óptica , Humanos , Masculino , Adolescente , Feminino , Criança , Estudos Retrospectivos , Glicoproteína Mielina-Oligodendrócito , Bandas Oligoclonais , Turquia/epidemiologia , Neurite Óptica/diagnóstico , Esclerose Múltipla/complicações , Autoanticorpos , Metilprednisolona , Aquaporina 4 , Neuromielite Óptica/complicaçõesRESUMO
Encephalitis is the inflammation of the brain parenchyma accompanied by mental or behavioral neurological dysfunction, sensory or motor deficits, speech or movement disorders, and seizure. Encephalitis is an acute, life-threatening emergency that requires prompt recognition and a systematic approach for appropriate management. Human herpes virus (HHV-7) is one of the causative agents of encephalitis. In this report, a three years and six months old girl admitted to the hospital with the complaints of fever, cough, gushing vomiting, and altered consciousness, with fever, neck stiffness and blurred consciousness in her physical examination, and positive HHV-7 DNA polymerase chain reaction (PCR) in the cerebrospinal fluid (CSF) was presented. The CSF biochemistry of the patient was normal, and lymphocytic pleocytosis was detected in the CSF. Electroencephalography of the case revealed a cerebral dysfunction and hyperexcitability due to background activity abnormalities, and a cytotoxic transient lesion of the splenium in cranial magnetic resonance imaging. A 14-day foscarnet treatment was given to the patient after she progressed under empirical acyclovir treatment and HHV-7 was found to be the causative agent in the CSF. The patient was cured with the treatment and was followed up on an outpatient basis without any sequelae. In general, HHV-7 is estimated to be a common cause of pediatric acute encephalitis cases. It has been observed in the literature that almost all of the HHV-7-associated encephalitis cases occur after the age of six years, suggesting that HHV-7 causes neurological disease in children as a late infection. This case was three years and six months old and it was thought that she had encephalitis during primary infection. With this case report, we contributed to the literature by presenting a case of encephalitis in an immunocompetent pediatric patient with a transient splenial lesion associated with HHV-7, which progressed with empirical acyclovir treatment and responded to foscarnet treatment.
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Encefalite , Herpesvirus Humano 7 , Humanos , Criança , Feminino , Lactente , Antivirais/uso terapêutico , Foscarnet/uso terapêutico , Aciclovir/uso terapêuticoRESUMO
Ichthyosis is a clinical skin cornification disorder characterized by hyperkeratosis. Lamellar ichthyosis is a rare form of ichthyosis (collodion baby), which is autosomal recessive. Diagnostic clinical findings can be confirmed with skin biopsy and genetic analysis. The principles of treatment are moistening the skin, prevention of dehydration, and use of keratolytic agents. Systemic retinoic acid (0.5-1 mg/kg/day) is reported to provide dramatic benefits in the treatment of lamellar ichthyosis and congenital ichthyosiform erythroderma. In this study, the efficiency of oral retinoic acid treatment is presented to show a dramatic improvement in five patients who were diagnosed as collodion babies and admitted to The Neonatal Intensive Care Unit after birth. None had other congenital problems. Only two patients were diagnosed as having sepsis. Hair loss was the only adverse effect of treatment in all five patients. With this series of collodion baby, we wanted to the draw the attention of physicians to the promising efficacy of retinoic acid.
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BACKGROUND: Intralesional recombinant epidermal growth factor (EGF) was produced in the Centre for Genetic Engineering and Biotechnology (CIGB), Cuba, in 1988 and licensed in 2006. Because it may accelerate wound healing, it is a potential new treatment option in patients with a diabetic foot wound (whether infected or not) as an adjunct to standard treatment (i.e. debridement, antibiotics). We conducted the initial evaluation of EGF for diabetic foot wounds in Turkey. METHODS: We enrolled 17 patients who were hospitalized in various medical centers for a foot ulcer and/or infection and for whom below the knee amputation was suggested to all except one. All patients received 75 µg intralesional EGF three times per week on alternate days. RESULTS: The appearance of new granulation tissue on the wound site (≥75%) was observed in 13 patients (76%), and complete wound closure was observed in 3 patients (18%), yielding a 'complete recovery' rate of 94%. The most common side effects were tremor (n=10, 59%) and nausea (n=6, 35%). In only one case,a serious side effect requiring cessation of EGF treatment was noted. That patient experienced severe hypotension at the 16th application session, and treatment was discontinued. At baseline, a total of 21 causative bacteria were isolated from 15 patients, whereascultures were sterile in two patients. The most frequently isolated species was Pseudomonas aeruginosa. CONCLUSION: Thus, this preliminary study suggests that EGF seems to be a potential adjunctive treatment option in patients with limb-threatening diabetic foot wounds.
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BACKGROUND: Diabetes mellitus type 1 is the most common endocrine metabolic disorder occurring in childhood and adolescence due to the autoimmune destruction of pancreatic beta cells as a result of various environmental factors interacting with an underlying genetic predisposition. Diabetes is a risk factor for early onset atherosclerosis, and the high mortality rate seen in these patients is partially related to cardiovascular diseases. OBJECTIVES: This study was conducted to compare mean platelet volume as a marker of early atherosclerosis with aortic intima-media thickness in children with type 1 diabetes and to identify its correlation with known cardiovascular risk factors. PATIENTS AND METHODS: The study included 27 patients between age range of 6 and 17 years that were diagnosed with type 1 diabetes and 30 healthy children of the same age range who did not have any chronic disease. In both groups, we used the color Doppler ultrasound to measure children's aortic intima-media thickness and identify their mean platelet volumes. RESULTS: There was no significant difference between the groups regarding gender distribution, age, High-Density Lipoprotein (HDL) and Low-Density Lipoprotein (LDL) cholesterol levels (P > 0.05). Also no significant difference could be documented between the patient and control groups regarding the aortic intima-media thickness and mean platelet volume (P > 0.05). However, there was a significant correlation between aortic intima-media thickness and mean platelet volume (r = 0.351; P < 0.05). CONCLUSIONS: In the present study, there was no evidence of early atherosclerosis in children with type 1 diabetes. However, mean platelet volume having a significant correlation with aortic intima-media thickness may be useful as an early marker of atherosclerosis.
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Paraphenylene daimine (PPD) is a kind of aromatic amine that is widely used in several industrial products. Women also use PPD added to henna (Lawasonia alba) as a hair dye. Though rare in Western countries, PPD poisoning is quite common in East Africa, India and Middle Eastern countries because it is a traditional product at these countries. Different pathologies were described as caused by PPD ingestion including angioedema of head and neck, rhabdomyolysis, and acute renal failure. The authors report a case of systemic poisoning with PPD that lead to angioedema resulting in tracheostomy and rhabdomyolysis.
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Tinturas para Cabelo/intoxicação , Fenilenodiaminas/intoxicação , Rabdomiólise/induzido quimicamente , Pré-Escolar , Humanos , MasculinoRESUMO
OBJECTIVE: Many factors can influence the secretion of breast milk. Cesarean section is a risk factor for late onset of breastfeeding. MATERIAL AND METHODS: In our study, we compared the lactation process by mothers who underwent elective cesarean section under general anesthesia, spinal anesthesia, epidural anesthesia, and normal birth; 84 patients between 18-40 years of age with a risk of ASA I-II were included. Randomly patients were divided into four groups: group G (general anesthesia, n:21), group S (spinal anesthesia, n:21), group E (epidural anesthesia, n:21), and group V (vaginal birth, without anesthesia, n:21). Oxytocin and prolactin values of all patients before and after operation or birth were recorded. In addition the initiation time of lactation after delivery or cesarean section were recorded. RESULTS: In all groups, there were no significant differences among hormone levels in the prepartum period (p=0.350). Prolactin levels in group G (p=0.011) and oxytocin levels in group V (p=0.012) in the postpartum period were significantly higher than in the other groups. The start of lactation was significantly delayed in group G (p=0.003). CONCLUSION: We consider that the onset time of lactation is delayed in patients undergoing cesarean section with general anesthesia when compared with patients who undergo cesarean section with spinal and epidural anesthesia and with patients who undergo normal vaginal birth. Because of the delay of awakening and recovery of cognitive functions in general anesthesia, communication between the mother and the newborn is delayed and so is the lactation.
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BACKGROUND: Perioperative hemodynamic fluctuations are seen more often in hypertensive patients than in normotensive patients. The purpose of our study was to investigate the perioperative hemodynamic effects of dexmedetomidine and midazolam used for premedication in hypertensive patients relative to each other and in comparison to normotensive patients. METHODS: One-hundred-forty female, normotensive or hypertensive patients undergoing myomectomies or hysterectomies. They were randomly enrolled into the subgroups: Group ND (normotensive-dexmedetomidine); Group HD (hypertensive-dexmedetomine); Group NM (normotensive-midazolam); Group HM (hypertensive- midazolam). Dexmedetomidine was administered at a concentration of 0.5 µg.kg(-1), and midazolam was administered at a concentration of 0.025 µg.kg(-1) via intravenous (IV) infusion before the induction of anaesthesia. Haemodynamic parameters were recorded at several times (T(beginning), T(preop5 min), T(preop 10 min), T(induction), T(intubation), T(intubation 5 min), T(initial surgery), T(surgery 15 min), T(surgery 30 min), T(extubation), T(extubation 5 min)). Propofol amount for induction, time between induction and initial surgery, demand of antihypertensive therapy, rescue atropine were recorded. Quantitative clinical and demographic characteristics were compared using One Way ANOVA. The values were compared using One-way Analysis of Variance. Additionally periodic variations were examined by One way Repeated Measures Analysis of Variance for groups separately. RESULTS: SBP was significantly different between normotensive and hypertensive groups at the following time points: T(preop 5 min), T(preop 10 min), T(induction), T(intubation), T(intubation 5 min) and T(initial surgery). MBP was significantly different in the hypertensive groups at T(induction), T(intubation), T(intubation 5 min), T(initial surgery), T(surgery 15 min), T(surgery 30 min), T(extubation) and T(extubation 5 min). The perioperative requirements for antihypertensive drugs were significantly higher in Group HM. CONCLUSION: In the hypertensive patients, dexmedetomidine premedication provides better hemodynamic stability compared with midazolam, and because it decreases the antihypertensive requirements, its use might be beneficial. TRIAL REGISTRATION: Clinicaltrials.gov identifier: NCT02058485.
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Dexmedetomidina/farmacologia , Hipertensão/complicações , Hipnóticos e Sedativos/farmacologia , Pré-Medicação/métodos , Adulto , Dexmedetomidina/administração & dosagem , Feminino , Hemodinâmica/efeitos dos fármacos , Humanos , Hipnóticos e Sedativos/administração & dosagem , Histerectomia/métodos , Infusões Intravenosas , Midazolam/administração & dosagem , Midazolam/farmacologia , Pessoa de Meia-Idade , Fatores de Tempo , Miomectomia Uterina/métodosRESUMO
This article's aim is investigating traumatic consequences of ambulance accident on patients and discussing difficulties to give a decision about the relation between death and accident at these cases. The cases were selected among the forensic medical reports concluded between 1996 and 2005 years. They were documented for age, sex, causes of urgent call, localization and extent of traumatic lesion, properties of events and board decisions. A total of 21 cases were found. 15 cases died on the day of the accident. Skin injuries at head (8 cases) and legs (6 cases) were most common traumatic lesions. Totally 6 deaths were found related with ambulance accident. Death of patient after ambulance accidents may not be associated easily to the accident. Delay due to accident or concomitant contributing medical conditions may also facilitate the death in this type of cases. Reliable medical records were needed for accurate medicolegal evaluation.
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Acidentes de Trânsito/mortalidade , Ambulâncias , Ferimentos e Lesões/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Medicina Legal , Nível de Saúde , Humanos , Recém-Nascido , Pessoa de Meia-Idade , Traumatismo Múltiplo/mortalidade , Estudos RetrospectivosAssuntos
Biomarcadores/sangue , Metilprednisolona/uso terapêutico , Naproxeno/uso terapêutico , Doença de Still de Início Tardio/diagnóstico , Tomografia Computadorizada por Raios X , Idoso de 80 Anos ou mais , Anti-Inflamatórios não Esteroides/uso terapêutico , Diagnóstico Diferencial , Feminino , Seguimentos , Glucocorticoides/uso terapêutico , Humanos , Doença de Still de Início Tardio/tratamento farmacológicoRESUMO
BACKGROUND: In Turkey, Crimean-Congo haemorrhagic fever (CCHF) is seen particularly in the north-eastern part of Anatolia. Aydin was thought to be a non-endemic area, however the first case was reported from Aydin in 2006 and a total of 39 cases were reported between 2006 and 2010. METHODS: Four hundred and twenty-nine volunteers from 3 endemic regions of Aydin were enrolled in this study. We determined the IgG seropositivity against the virus by enzyme-linked immunosorbent assay (ELISA) method. RESULTS: IgG seropositivity in the study group was found to be 19.6% (n = 84). Chi-squared automatic interaction detector (CHAID) analysis was performed and a significant relationship between IgG seropositivity and tick-bite was found. The IgG seropositivity rate was 13% in cases without a history of tick-bite, while it was 41.1% in those with a tick-bite history (p < 0.001). In cases without a history of tick-bite (n = 339), the most important factor related to seropositivity was cattle-dealing. The seropositivity rate was higher in women than in men in the group dealing with cattle without a history of tick-bite (p = 0.013). In cases with a tick-bite history, the most important factor related to IgG seropositivity was age; the rate was 81% in cases younger than 34 y old, while it was 29% in cases older than 34 y. CONCLUSIONS: This study indicates that people suffering from the disease did not ask for any professional healthcare or that the healthcare providers could not diagnose these cases.
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Doenças Endêmicas/estatística & dados numéricos , Vírus da Febre Hemorrágica da Crimeia-Congo/isolamento & purificação , Febre Hemorrágica da Crimeia/epidemiologia , Adulto , Animais , Anticorpos Antivirais/sangue , Bovinos , Distribuição de Qui-Quadrado , Feminino , Febre Hemorrágica da Crimeia/sangue , Febre Hemorrágica da Crimeia/imunologia , Febre Hemorrágica da Crimeia/virologia , Humanos , Imunoglobulina G/sangue , Mordeduras e Picadas de Insetos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Estudos Soroepidemiológicos , Inquéritos e Questionários , Carrapatos , Turquia/epidemiologiaRESUMO
We conducted this study to examine the reproductive health status and depression levels of women who live in sanctuary houses after being subjected to domestic violence. The total number of women in the study is 65. Data were collected via descriptive, violence, and women's reproductive health problems questionnaires and the Beck Depression Inventory (BDI). The women had experienced all kinds of extreme violence. As regards to reproductive health, the women had undergone several kinds of disorders such as menstrual irregularities, genital infection, and premenstrual syndrome. Based on the BDI cut-off values, it was concluded that all these women need medical treatment.
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Depressão/psicologia , Doenças dos Genitais Femininos/etiologia , Maus-Tratos Conjugais/psicologia , Saúde da Mulher , Adolescente , Adulto , Depressão/diagnóstico , Feminino , Nível de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Reprodução , Direitos Sexuais e Reprodutivos , Índice de Gravidade de Doença , Fatores Socioeconômicos , Maus-Tratos Conjugais/estatística & dados numéricos , Cônjuges , Inquéritos e Questionários , Adulto JovemRESUMO
We report a case of acute respiratory insufficiency due to peripartum cardiomyopathy after Caesarean section in a term pregnancy with twins. The patient was a 30-year-old woman with a spontaneous twin pregnancy at 32 weeks of gestation who was admitted to our obstetrics department with preterm premature rupture of membranes. After 48 hours, the tocolysis was stopped and an uneventful Caesarean was performed under general anesthesia. As the patient was waking up, her SPO2 decreased to 32%, and she became cyanotic and tachypneic. Auscultation revealed rales in her lower lung lobes bilaterally. Her oxygen saturation did not increase in the hours that followed, and her cyanosis persisted, so we decided to admit her to the Intensive Care Unit. She was mechanically ventilated. Her chest X-ray showed an enlarged cardiac silhouette and pulmonary infiltrates in the lower lobes. On the second postoperative day, transthoracic echocardiography was performed and revealed an EF of 45%, mild left ventricular systolic dysfunction and moderate mitral valve failure. Lisinopryl and furosemide were started. On postoperative day four, her symptoms and radiological signs had resolved. She was weaned from mechanical ventilation and discharged from the obstetric ward on postoperative day seven.