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2.
Artigo em Inglês | MEDLINE | ID: mdl-38109457

RESUMO

Louis-Bar Syndrome is a synonym for a very rare complex neurodegenerative disorder ataxia-telangiectasia (A-T). This is an autosomal recessive inherited disease that encompasses abnormalities in the cerebellum, multisystem degeneration, immunodeficiency, increased risk for malignancy and consecutive respiratory insufficiency. Most of the patients are radiosensitive and any exposing to ionization may lead to progression of the disease. Potential risks from anesthesia, mechanical ventilation, and postoperative complications in these patients have been insufficiently discussed in the literature. We present a successful anesthetic and respiratory management with one-lung ventilation in a patient with Louis-Bar Syndrome who underwent video assisted thoracoscopy (VATS) for recurrent pleural effusion.


Assuntos
Anestésicos , Ataxia Telangiectasia , Humanos , Ataxia Telangiectasia/patologia , Respiração Artificial
3.
Acta Chim Slov ; 70(4): 488-499, 2023 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-38124648

RESUMO

Due to its transferability, the soil has been commonly used as evidence in criminal investigations. In this work, 172 soil samples taken from five urban parks from the town of Tetovo (North Macedonia) and from additional four rural locations in its vicinity. The soil samples were examined using X-ray powder diffraction. The collected diffractograms were used for development of classification models based on supervised self-organizing maps. The examination generalization performances of the developed models showed that they were able to correctly classify between 95.6 and 97.8% of the samples from the independent test set. The influence of the weather and the seasonal changes on the composition of the soil was also examined. For this purpose, three years after the initial soil samples were collected, additional 28 samples were analyzed from different location. The best models presented in this work were able to successfully classify 27 of these additional samples.

4.
Front Immunol ; 14: 1284031, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38022568

RESUMO

Introduction: The health-related quality of life (HRQoL) of people with (Pw) multiple sclerosis (MS) is usually deteriorated. It has been recently suggested that comorbidities may have the negative influence on the quality of life of the PwMS, but according to the best of our knowledge, only one study investigated, although in a very small cohort, the impact of individual comorbidity on the quality of life of PwMS. The aim of our investigation was to assess, in an international, multicentric study, the impact of comorbid seizure/epilepsy on the HRQoL in PwMS. Methods: We conducted cross-sectional study at numerous neurological centers in Serbia, Croatia, Bulgaria, Montenegro, Northern Macedonia, and Bosnia and Herzegovina (Federation of Bosnia and Herzegovina and Republic of Srpska). For each patient, demographic and clinical data were collected, including Expanded disability status scale (EDSS) score. Beck Depression Inventory (BDI) and the 36-Item Short Form Health Survey (SF-36) questionnaires were administered to all patients. Results: The study comprised 326 PwMS in total, 127 PwMS with seizure/epilepsy and 209 PwMS without. Both mean Physical health composite (PHC) and mental health composite (MHC) scores, were statistically significantly higher in PwMS without seizure/epilepsy, implicating worse quality of life in PwMS with comorbid seizure/epilepsy. Presence of seizure/epilepsy in pwMS was statistically significant independent predictor of both PHC and MHC, in multivariate linear regression model after adjustment for potential confounding variables. The hierarchical multivariate regression analysis was performed in order to establish the most important predictors of the PHC and MHC of the SF-36, in PwMS with seizure/epilepsy; older age, higher level of disability, as measured by EDSS, higher depression score, drug-resistant epilepsy and shorter time since last seizure were found to significantly predict worse MHC score in PwMS with seizure/epilepsy. Discussion: Our results point to the possible role of theinterventions related to the adequate control of epilepsy along with improvement of the mental health status to be important in order to reduce MS burden in the PwMS with comorbid seizure/epilepsy.


Assuntos
Epilepsia , Esclerose Múltipla , Humanos , Qualidade de Vida , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/psicologia , Estudos Transversais , Comorbidade , Epilepsia/epidemiologia , Convulsões/epidemiologia
5.
Epilepsia Open ; 8(3): 1028-1037, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37335272

RESUMO

OBJECTIVE: The objective of this study was to determine the age, gender, and site-specific prevalence of fractures in people with epilepsy (PWE) and matched general population comparators in a nationwide study in North Macedonia between 2015 and 2018. METHODS: PWE and matched controls were selected through a systematic search of the electronic National Health System (eNHS). We determined the period prevalence (PP) of all site-specific fractures. We also calculated gender and age-specific incidence rate ratios (IRR) for various fractures. Odds ratios (ORs) and risk ratios (RR) were estimated for the number and type of ASM as well as comorbid conditions. RESULTS: Out of 13 818 prevalent epilepsy cases, 6383 (46.2%) were females, and 7435 (53.8%) were males. 109 PWE out of 1000 had at least one fracture during the study period and ~8 people out of 1000 in the general population. The most frequent sites in terms of PP both in PWE and controls, were fractures of the lower arm, hip and femur, and lower leg. Significant differences in PP for all fracture locations were observed between PWE and controls (P < 0.001). The noticeable differences of ∼100 times higher PP were observed for fractures of the skull and jaw in PWE. IRR of any fracture in PWE was 272.84/10 000 person-years; higher in the older age groups and among people who received >2 ASM. Fracture risk was increased with the use of >2 ASM (OR: 1.56; 95% CI: 1.32-1.84 and RR: RR: 1.32). The presence of comorbidities also increased fractures risk (OR: 1.24; 95% CI: 1.10-1.38). SIGNIFICANCE: This population-based study depicts a higher fracture prevalence in PWE compared to the general population. A higher number of ASM and the presence of comorbidities increase the risk of fractures and targeted prevention might be needed in those subgroups of PWE.


Assuntos
Epilepsia , Fraturas Ósseas , Masculino , Feminino , Humanos , Idoso , Estudos de Coortes , Epilepsia/epidemiologia , Epilepsia/complicações , Comorbidade , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Incidência
6.
Epileptic Disord ; 24(1): 95-101, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34750093

RESUMO

Population-based studies of epilepsy risk factors are rare. We aimed to evaluate the prevalence of various risk factors associated with new-onset epilepsy after the age of 50 years. We included all incident cases in North Macedonia between 2015 and 2018. Study participants were ascertained from the national healthcare platform. We performed a retrospective analysis of Electronic Health Records of 2,367 patients (1,017 females and 1,350 males) whose epileptic seizures started after the age of 50 years. Patients were stratified into 10-year age groups. The most common risk factor for new-onset epilepsy in our cohort was stroke, which was associated with new-onset epilepsy in 20% of patients aged 50-59 years and almost 50% of patients aged 70-79 years. The second most frequent risk factor was neoplasm in patients aged 50-69 years and dementia in patients older than 70 years. The other pre-existing conditions included: metabolic disorders, traumatic brain injury, and postencephalitic and inflammatory diseases. Chronic alcoholism was the most common metabolic risk factor associated with new-onset epilepsy and accounted for 84% of cases in this subgroup. Only metabolic disorders were significantly more frequent in males than in females (p<0.00001). We did not identify any epilepsy risk factor in 967 patients (41%). Systemic vascular risk factors were frequent in our cohort: 1,574 patients had hypertension (66%) and 449 patients had diabetes (19%), and 339 had both conditions (14%). We found that structural lesions were the most prevalent risk factor associated with new-onset epilepsy in middle-aged and elderly patients. Recognition of possibly modifiable factors associated with late-onset epilepsy could have a positive impact on reducing the risk of developing epilepsy.


Assuntos
Epilepsia , Idade de Início , Idoso , Epilepsia/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Fatores de Risco
7.
Epilepsy Behav ; 124: 108353, 2021 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-34678568

RESUMO

OBJECTIVE: Risk factors for childhood and late-onset epilepsy are thoroughly described in existing literature, while they are less defined and ambiguous for young adults. We aimed to evaluate the prevalence of various risk factors associated with new-onset epilepsy in adults aged 20-49 years. We included all incident cases in North Macedonia between 2015 and 2018. METHODS: Study participants were ascertained through the nationwide healthcare platform. We performed a retrospective analysis of their Electronic Health Records and identified associated conditions which are considered putative risk factors for epilepsy. RESULTS: Of 1691 included patients, 694 (41%) had at least one putative risk factor. The most common were neoplasms and cerebrovascular diseases (8% of cases, respectively), followed by intellectual disability (6%), alcohol/substance abuse (5%), and traumatic brain injury (4%). Infective and inflammatory diseases were infrequent in our cohort (1%). Other very rare risk factors included degenerative and metabolic disorders and malformations of cortical development (2%). Idiopathic (genetic) generalized epilepsies accounted for 7% of incident cases. Chronic alcoholism and illicit drugs abuse (dominantly opioids) were significantly more frequent in males than in females (p < 0.00001). CONCLUSION: Brain neoplasms and stroke were the most prevalent risk factors associated with new-onset epilepsy in young adults. Furthermore, adult-onset IGE were common in our cohort. The majority of patients did not have any of conventional risk factors and probably specific genetic causes might become increasingly recognized in adult-onset epilepsies in the future.

8.
Seizure ; 87: 56-60, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33690108

RESUMO

PURPOSE: This study aimed to evaluate the incidence and period prevalence of epilepsy in the Republic of North Macedonia, an upper-middle-income country with universal access to healthcare, based on a nationwide healthcare platform (NHP). METHODS: NHP contains reports from all inpatient and outpatient medical encounters and procedures, and all electronic medical records are linked together with a unique patient number. We performed the analysis of the data maintained at the Macedonian Ministry of Health, concerning the five years of the study (2014 through 2018). Population and demographic data for each year were obtained from the State Statistical Office. RESULTS: The period prevalence was 6.67 per 1,000 inhabitants. There were 6383 (46.2%) females and 7435 (53.8%) males; the gender difference was significant: 6.17 per 1,000 females and 7.16 per 1,000 males (p = 0.0000). Between 2015 and 2018 the median annual incidence of epilepsy was 68 new epilepsy patients per 100,000, with an upward trend over time. The age-specific incidence was high in childhood and adolescence, was constant (and low) in the adult years, and gradually increased in each successive age group after the age of 50 years. The greatest incidence was found in group 70-79 years of age. The incidence in childhood and adolescence tends to gradually decrease from 2015 to 2018, while it progressively increased in population over 50 years of age, which may explain a rise in overall incidence. We found a statistically significant higher incidence in males than in females, a ratio consistently being 1.2: 1. CONCLUSION: The data from the study provides accurate findings on the prevalence and incidence of epilepsy in the upper-middle-income Southeastern European country.


Assuntos
Epilepsia , Adolescente , Adulto , Criança , Atenção à Saúde , Epilepsia/epidemiologia , Europa (Continente) , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , República da Macedônia do Norte/epidemiologia
9.
Pol Przegl Chir ; 94(4): 20-26, 2021 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-36047356

RESUMO

<b>Introduction:</b> Colorectal cancer is one of the most common cancers worldwide. In most of these patients, quality of life is deteriorated. </br></br> <b>Aim:</b> The aim of our study was to analyze how the disease affects health-related quality of life (HRQoL) and to examine the role of demographic, disease-related, and other factors in the overall quality of life. The second aim was to identify areas where HRQoL could be improved. </br></br> <b> Material and methods:</b> A cross-sectional questionnaire survey was conducted. The study included a modified version of EQ-5D, as well as clinical and socioeconomic characteristics of the country. Patients over the age of 18, who had colorectar surgery, and were followed up at our clinic, were included in the survey. </br></br> <b>Results:</b> In patients after colorectal surgery, bowel control is a major concern that has an impact on their quality of life. The majority of patients expressed gratitude for the care they received and thanked the health-care providers for it. With the EQ-5D modified questionnaire, the concept of "perfect" health was reviewed and analyzed. A response "no difficulty" in any of the five domains was classified as perfect health. Only one-third of the patients said their health was "ideal" (no problems in any of the EQ-5D five domains). </br></br> <b>Discussion:</b> According to the results of this study, patients with CRC have considerably poorer HRQoL than the general population, as indicated by the EQ-5D utility scores. This discovery is in line with some previous research. </br></br> <b>Conclusion:</b> Colorectal surgery survivors' total HRQoL has been found to be lower than in the general population.


Assuntos
Cirurgia Colorretal , Qualidade de Vida , Adulto , Estudos Transversais , Humanos , Pessoa de Meia-Idade , Medidas de Resultados Relatados pelo Paciente , Inquéritos e Questionários
10.
Epilepsy Behav ; 104(Pt A): 106881, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31931459

RESUMO

OBJECTIVE: The study aimed to evaluate the attitudes of seizure-free patients toward the antiepileptic drug (AED) withdrawal and to highlight the factors that affect their perspectives. METHODS: The study participants were recruited among the individuals attending the epilepsy outpatient clinic of a university hospital in Skopje between January 2018 and April 2019. Patients with epilepsy who had been seizure-free for at least 2 years on stable monotherapy were included. RESULTS: Among the 90 participants, 43 were female, and the mean age was 36.3 years. The mean duration of active epilepsy before remission was 7.9 years, and the length of the seizure-free period at the time of evaluation was 2-20 years. Forty-four percent of participants aimed to taper their antiseizure medications because of concerns about the potential long-term side effects and teratogenicity, the burden of taking medication daily, stigma, as well as the impression of no longer having a chronic disease after withdrawal. The majority of them preferred slow versus rapid withdrawal. On the other side, 55% of patients choose to continue AED treatment, mainly feeling well-adjusted to it and being concern about possible seizure recurrence after withdrawal and subsequent loss of driving license or even their jobs. Previous unsuccessful attempts to discontinue AED together with previously uncontrolled seizures were additional motives against withdrawal. The patients' views toward stopping or withholding AED were significantly associated with their gender and marital status (male patients as well as single ones favored medication withdrawal). Patients' age to some extent, though not significantly, affected their viewpoints (younger participants tended to question the further necessity of AEDs and were more concerned about the potential adverse consequences). No other demographic or epilepsy-related data considerably predisposed the decisions. CONCLUSIONS: More than half of the patients with epilepsy preferred to continue their AED after 2 years of seizure freedom. Male gender, being single, and somewhat younger age were associated preferences to withdraw AED.


Assuntos
Anticonvulsivantes/administração & dosagem , Epilepsia/tratamento farmacológico , Conhecimentos, Atitudes e Prática em Saúde , Convulsões/tratamento farmacológico , Inquéritos e Questionários , Suspensão de Tratamento/tendências , Adolescente , Adulto , Idoso , Anticonvulsivantes/efeitos adversos , Doença Crônica , Epilepsia/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Convulsões/psicologia , Fatores de Tempo , Adulto Jovem
11.
Med Arch ; 73(5): 356-358, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31819311

RESUMO

INTRODUCTION: Surgery is effective treatment for echinococcosis; however, there is a risk of hypertonic saline resorption and acute hypernatremia. AIM: We report two cases of severe hypernatremia following hydatid cyst removal. CASE REPORTS: A 17-year-old girl underwent surgical removal of hepatic hydatid cyst. Following the surgery, she developed seizures evolving to status epilepticus, and was sedated and mechanically ventilated. Blood chemistry showed hypernatremia. Fluid resuscitation with 5% dextrose infusions was started in combination with furosemide. Electrolytes were monitored frequently until plasma sodium levels normalized, 30 hours later. The patient was seizure free 48 hours later. The second patient is a 70-year-old man with hepatic hydatid cyst. After the surgery he became somnolent and confused due to severe hypernatremia. Intravenous administration of five percentage dextrose was initiated and high doses of furosemide. Sodium level normalized within 38 hours. The patient's mental status improved. CONCLUSION: A hospital protocol was established aiming to prevent hypernatremia and neurological complications.


Assuntos
Equinococose Hepática/cirurgia , Hipernatremia/induzido quimicamente , Complicações Pós-Operatórias/induzido quimicamente , Solução Salina Hipertônica/efeitos adversos , Adolescente , Idoso , Confusão/etiologia , Feminino , Hidratação/métodos , Furosemida/uso terapêutico , Glucose/uso terapêutico , Humanos , Hipernatremia/complicações , Hipernatremia/prevenção & controle , Hipernatremia/terapia , Cuidados Intraoperatórios , Masculino , Complicações Pós-Operatórias/prevenção & controle , Convulsões/etiologia , Sonolência , Inibidores de Simportadores de Cloreto de Sódio e Potássio/uso terapêutico , Estado Epiléptico/etiologia , Irrigação Terapêutica
12.
Epileptic Disord ; 21(5): 471-474, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31617492

RESUMO

Focal cortical dysplasia (FCD) type II and hemimegalencephaly (HME) are currently considered as a continuum of pathology, the most important distinction being the extent or the size/volume of the lesion. While partial HME involving the posterior cortex has been well described, we present an unusual case with a dysplastic lesion of the whole frontal lobe. A 17-year-old boy had focal seizures from the age of nine years. Apart from diminished right-hand dexterity, his neurological and cognitive status were unremarkable. The course of his epilepsy exhibited a relapsing-remitting pattern, with prolonged periods of remission. Imaging showed dysplastic left frontal lobe (including paracentral lobule) thickened cortex with an abnormal gyration pattern resembling polymicrogyria, as well as dystrophic calcifications and hypodensity scattered throughout the white matter. This patient represents an intermediate case within the FCD type II/HME spectrum. Localization of the lesion in the frontal lobe as well as clinical characteristics (childhood onset, relapsing-remitting epilepsy, without hemiparesis and overt cognitive impairment) are more consistent with FCD type II, while a range of MRI features is shared between HME and FCD type II.


Assuntos
Epilepsia/patologia , Lobo Frontal/patologia , Hemimegalencefalia/patologia , Malformações do Desenvolvimento Cortical do Grupo I/patologia , Malformações do Desenvolvimento Cortical/patologia , Adolescente , Córtex Cerebral/patologia , Eletroencefalografia/métodos , Epilepsia/diagnóstico , Hemimegalencefalia/diagnóstico , Hemimegalencefalia/fisiopatologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Malformações do Desenvolvimento Cortical/diagnóstico , Malformações do Desenvolvimento Cortical/fisiopatologia , Malformações do Desenvolvimento Cortical do Grupo I/diagnóstico
13.
Open Access Maced J Med Sci ; 7(4): 516-520, 2019 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-30894904

RESUMO

BACKGROUND: Alzheimer's disease (AD), the most common cause of dementia, is evolving to become a threatening epidemy of the 21st century. Only 21% of the predicted number of AD patients in Macedonia have been diagnosed and treated, which means that almost 80% are underdiagnosed or misdiagnosed. Apolipoprotein E gene (APOE) is recognised as the strongest genetic risk factor for sporadic AD. Whether and when Alzheimer's disease develops, depends on the very complex interaction between genetic and modifiable risk factors. It has been known that vascular factors like hypertension, diabetes mellitus, hypercholesterolemia and obesity increase the risk of developing both AD, vascular dementia and mixed AD and vascular pathology. AIM: This study aims to evaluate the influence of APOEε4 allele presence and modifiable vascular risk factors (hypertension, diabetes mellitus and dyslipidemia) as prognostic and risk factors for AD and their influence on the age of onset of AD symptoms among 144 AD patients from Macedonia. MATERIAL AND METHODS: Study group of a total of 144 patients diagnosed with AD was evaluated. APOE genotyping was performed using APOE haplotype-specific sequence specific-primer (SSP)-PCR (Polymerase Chain Reaction) methodology. The non-standardized questionnaire was used to obtain information about demographics, lifestyle and modifiable risk factors that could influence disease onset and phenotype. RESULTS: Statistically significant association was found between the presences of APOEε4 allele in AD group versus controls. The presence of APOEε4 allele increases the risk of developing AD in a 3-fold manner. The average age of disease onset in the ε4 carrier group was 67.2 ± 8.3 and in the ε4 non-carrier group 69.7 ± 9.4. This confirms that the presence of APOEε4 allele shifts towards earlier disease onset, though the difference is not statistically significant. Out of the vascular risk factors, only hypertension was significantly associated with earlier AD onset. Out of total 144 patients, in 22.9% the first symptom onset was before the age of 65, that can be considered as early onset Alzheimer's Disease (EOAD), which is much higher than 5% for EOAD as most of the studies report. CONCLUSIONS: The average age of disease onset of 68.4 years could be considered earlier than the average age of AD onset worldwide. Out of all the vascular risk factors analysed in this study, only hypertension and dyslipidemia were found to significantly increase the risk for developing AD and only the presence of hypertension influences the age of onset, shifting towards earlier disease onset. Public awareness campaigns should be organised to influence general population knowledge about Alzheimer's disease, early recognition and the influence of modifiable vascular risk factors.

15.
Clin Neuropharmacol ; 41(6): 218-221, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30234559

RESUMO

OBJECTIVES: The choice of antiepileptic drug is typically based on seizure type, and there is no evidence for superior effectiveness or potential deterioration of particular antiepileptic drug in specific etiologic subgroups. The aim of the study was to identify etiological factor(s) associated with increased risk of seizure aggravation with levetiracetam (LEV). METHODS: A retrospective analysis of 139 patients treated with LEV was performed. Seizure aggravation was defined as a 100% or greater increase in seizures frequency, which occurred within 1 month of drug introduction. RESULTS: Five patients who fulfilled the selection criteria were identified. Seizure aggravation occurred with low doses (500-1000 mg) of LEV. In addition to increased frequency and duration, 2 patients developed new seizure types. Withdrawal of LEV resulted in seizure return to background frequency in all patients. Four of 5 patients have distinctive magnetic resonance imaging finding of focal cortical dysplasia. No patients with paradoxical effect of LEV were detected in the idiopathic epilepsy group or other types of symptomatic epilepsies. CONCLUSIONS: Our results suggest that LEV may possibly induce seizure exacerbation in a subset of patients with focal cortical dysplasia-related epilepsy, although large studies are needed to establish the relation. Underlying causes of epilepsy could impact the treatment choice because electroclinical semiology might be the "final common pathway" of different epileptogenic mechanisms in diverse etiologies.


Assuntos
Anticonvulsivantes/efeitos adversos , Epilepsia/tratamento farmacológico , Levetiracetam/efeitos adversos , Malformações do Desenvolvimento Cortical/fisiopatologia , Convulsões/induzido quimicamente , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Epilepsia/etiologia , Feminino , Humanos , Masculino , Malformações do Desenvolvimento Cortical/complicações , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
16.
Open Access Maced J Med Sci ; 6(3): 472-478, 2018 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-29610603

RESUMO

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease caused by the action of specific antibodies to the postsynaptic membrane of the neuromuscular junction, leading to impaired neuromuscular transmission. Patients with MG have an increased incidence of other autoimmune diseases. AIM: to determine the presence of other associated diseases in patients with MG. METHOD: A group of 127 patients with MG followed in 10 years period, in which the presence of other associated diseases has been analysed. RESULTS: The sex ratio is in favour of the female sex, the average age of the initial manifestation of the disease is less than 50 years, 65.4% of the patients with MG have another disease. 15.0% patients have associated another autoimmune disease. Thyroid disease is the most common associated with MG, rarely rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and other autoimmune diseases. Other diseases include hypertension, heart disease, diabetes, respiratory diseases, dyslipidemia. 10.2% of the patients are diagnosed with extrathymic tumours of various origins. CONCLUSION: Associated diseases are common in patients with MG, drawing attention to the possible common basis for their coexistence, as well as their impact on the intensity and treatment of the disease.

17.
Seizure ; 58: 13-16, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29605745

RESUMO

PURPOSE: The traditional perception of mesial temporal lobe epilepsy (MTLE) as a predominantly acquired disorder is challenged due to emerging evidence of familial aggregation. In this study, we ascertained the extent of familial occurrence of epilepsy in MTLE patients, as well as phenotypic heterogeneity in affected relatives. METHODS: We identified and reevaluated patients with MTLE, treated at Epilepsy Department for a period of two years. All eligible putatively affected relatives were asked to participate in the study. In addition to comprehensive epilepsy interview, they underwent EEG and MRI studies. RESULTS: 52 patients with MTLE were included; nine of them (17%) had at least one family member with epilepsy. Subsequently, we analyzed nine probands with MTLE and a total of 15 relatives with seizures. Among affected relatives, spectrums of clinical manifestations were observed. Typical MTL seizures were described in five individuals, while other types of focal or generalized tonic-clonic seizures were reported in other ten relatives. A total of seven individuals had febrile seizures. Hippocampal sclerosis was found in three probands and none of the relatives. Two of affected family members had a traumatic brain injury in addition to febrile seizures, prior to the occurrence of their epilepsy. CONCLUSION: We demonstrate that familiar occurrence of epilepsy and subsequently putative genetic background, accounts for a substantial proportion MTLE patients. In addition, we foreground the remarkable intra- and interfamilial phenotypic heterogeneity than usually described, displaying the complexity of the genotype-phenotype correlations.


Assuntos
Epilepsia do Lobo Temporal/genética , Epilepsia do Lobo Temporal/fisiopatologia , Família , Predisposição Genética para Doença , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Criança , Eletroencefalografia , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/terapia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Fenótipo , Esclerose/diagnóstico por imagem , Esclerose/fisiopatologia , Adulto Jovem
18.
Med Arch ; 70(4): 308-310, 2016 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-27703296

RESUMO

INTRODUCTION: Rhabdomyolysis is a syndrome of injury of skeletal muscles associated with myoglobinuria, muscle weakness, electrolyte imbalance and often, acute kidney injury as severe complication. THE AIM: of this study is to detect the incidence of rhabdomyolysis in critically ill patients in the surgical intensive care unit (ICU), and to raise awareness of this medical condition and its treatment among the clinicians. MATERIAL AND METHODS: A retrospective review of all surgical and trauma patients admitted to surgical ICU of the University Surgical Clinic "Mother Teresa" in Skopje, Macedonia, from January 1st till December 31st 2015 was performed. Patients medical records were screened for available serum creatine kinase (CK) with levels > 200 U/l, presence of myoglobin in the serum in levels > 80 ng/ml, or if they had a clinical diagnosis of rhabdomyolysis by an attending doctor. Descriptive statistical methods were used to analyze the collected data. RESULTS: Out of totally 1084 patients hospitalized in the ICU, 93 were diagnosed with rhabdomyolysis during the course of one year. 82(88%) patients were trauma patients, while 11(12%) were surgical non trauma patients. 7(7.5%) patients diagnosed with rhabdomyolysis developed acute kidney injury (AKI) that required dialysis. Average values of serum myoglobin levels were 230 ng/ml, with highest values of > 5000 ng/ml. Patients who developed AKI had serum myoglobin levels above 2000 ng/ml. Average values of serum CK levels were 400 U/l, with highest value of 21600 U/l. Patients who developed AKI had serum CK levels above 3000 U/l. CONCLUSION: Regular monitoring and early detection of elevated serum CK and myoglobin levels in critically ill surgical and trauma patients is recommended in order to recognize and treat rhabdomyolysis in timely manner and thus prevent development of AKI.


Assuntos
Unidades de Terapia Intensiva , Rabdomiólise/epidemiologia , Adolescente , Adulto , Idoso , Estado Terminal , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , República da Macedônia do Norte , Estudos Retrospectivos , Rabdomiólise/diagnóstico , Rabdomiólise/terapia , Adulto Jovem
20.
Clin Neurol Neurosurg ; 144: 91-5, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27037863

RESUMO

OBJECTIVE: Surveys on mesial temporal lobe epilepsy (MTLE) repeatedly demonstrate that seizures are commonly resistant to antiepileptic drugs (AED), but patients usually came from third-level epilepsy centers, making the medically refractory population larger. The aim of our study is to evaluate patterns of seizure control and prognostic factors of general population of MTLE patients observed in clinical practice. METHODS: Sixty five MTLE patients were evaluated for demographic data, family history, febrile convulsions, detailed descriptions of auras and seizures, presence of secondarily generalized seizures, age at seizure onset, duration of epilepsy, epileptiform discharges in EEG, neuroradiological findings and AED schedules with therapeutic response. According to seizure frequency, patients were divided into three groups: (1) seizure-free (SF) patients at the time of evaluation, (2) patients considered as having infrequent seizures (IS) if they presented only auras or up to three dyscognitive (complex partial) seizures per year and (3) patients with higher rate were regarded as having frequent seizures i.e. being drug-resistant (DR). For each clinical parameter, the three groups were compared statistically. In addition, following the patterns of evolution over time, patients were categorized into two groups: continuous pattern, with no period of remission, and intermittent pattern, in which patients had at least one period of remission. RESULTS: Ten patients (15.4%) were seizure free, 19 (29.2%) had infrequent seizures, while 36 patients (55.4%) had frequent uncontrolled seizures. Ten (52.6%) IS patients and ten (27.7%) DR patients had a intermittent i.e. relapse-remitting pattern with at least one period of two years without seizures. Female patients dominated SF group and the gender difference with other groups reached statistical significance (p=0.02). Comparing the groups, DR group had longer seizure duration than IS group (12.6±10.9years vs. 22.8±10.6years, p=0.006). Number of tried AEDs (p<0.00006) was significantly lower in the seizure-free patients. Other variables are not related to course of the epilepsy. CONCLUSION: MTLE is a heterogeneous syndrome, 45% of patients in our series were having either rare auras or seizures or were seizure-free. The factors associated with drug resistance were longer duration of epilepsy, higher number of previously tried AED and male gender.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/tratamento farmacológico , Fenótipo , Convulsões/diagnóstico por imagem , Convulsões/tratamento farmacológico , Estudos de Coortes , Eletroencefalografia/tendências , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética/tendências , Masculino , Prognóstico , Estudos Retrospectivos , Convulsões/fisiopatologia , Resultado do Tratamento
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