RESUMO
BACKGROUND: Headache in patients with systemic lupus eryhtematosus (SLE) is considered a common neurological finding, although the relationship is unclear. Another obscure point is the relationship between headache and neuroradiologic findings in these patients. AIM: In this study, we aimed to evaluate the correlation between headache characteristics and intracranial lesions in SLE patients. METHODS AND RESULTS: Forty-eight SLE patients were chosen from those referred to our clinic depending on the American Collage of Rheumatology (ACR) criteria at the same time or after the diagnosis of SLE. Headache classification was done regarding the ICD-II criteria in the patients. Headache severity was assessed by visual analog scale (VAS), and subjects with VAS > or = 4 were included in the study. Patients were divided into two groups according to magnetic resonance imaging (MRI) findings: abnormal MRI (lesion positive) and normal MRI (lesion negative). On MRI, intracranial lesions were detected in 37.5% (n = 18) of the patients, and no lesion was found in 62.5% (n = 30). Headache characteristics were as tension type in 54.1% (n = 26) and migraine like in 39.6% (n = 19) of all patients. Imaging findings were mostly as periventricular and subcortical focal lesions, ranging from 3-22 mm in diameter. A significant correlation was found between abnormal MRI findings with advanced age and prolonged disease duration (p = 0.018, p = 0.016). CONCLUSIONS: As a conclusion, a detailed neurologic evaluation and radiologic investigation, if necessary, should be performed in SLE patients with prolonged disease and advanced age, regardless of headache characteristics.
Assuntos
Encefalopatias/etiologia , Encéfalo/patologia , Cefaleia/etiologia , Vasculite Associada ao Lúpus do Sistema Nervoso Central/complicações , Imageamento por Ressonância Magnética , Adulto , Encéfalo/fisiopatologia , Encefalopatias/patologia , Encefalopatias/fisiopatologia , Comorbidade , Encefalite/diagnóstico , Encefalite/fisiopatologia , Feminino , Cefaleia/fisiopatologia , Humanos , Vasculite Associada ao Lúpus do Sistema Nervoso Central/fisiopatologia , Masculino , Pessoa de Meia-Idade , Medição da Dor , Estudos Prospectivos , Recidiva , Fatores de Risco , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: Hyperventilation and ischaemia increase axonal excitability by changing Na+ conductance in healthy subjects. However, the changes in excitability during and after ischaemia in diabetic patients are less than in healthy controls. This is known as ischaemic resistance. In this study, we investigated the effects of hyperventilation for 20 min on strength-duration time constant (SDTC) of motor axons of the median nerve of diabetic patients with polyneuropathy to determine whether diabetics are less affected by hyperventilation, a form of resistance similar to the ischaemic resistance of diabetics. METHODS: The SDTC of 14 diabetic patients with polyneuropathy and 10 healthy volunteers were measured following stimulation of right median nerve at the wrist prior to and after hyperventilation for 20 min. RESULTS: There was a significant increase in the SDTC in control subjects, but no significant change in the SDTC for patients with diabetic polyneuropathy. The score of the clinical response (paraesthesiae and carpopedal spasm) to hyperventilation of controls was also significantly greater in the controls than the patients. CONCLUSION: Hyperventilation for 20 min has little influence on SDTC in patients with diabetic polyneuropathy. SIGNIFICANCE: The 'resistance' of diabetic nerve is not confined to ischaemia but involves other manoeuvres that can alter axonal excitability.
Assuntos
Neuropatias Diabéticas/fisiopatologia , Hiperventilação , Nervo Mediano/fisiopatologia , Tempo de Reação/fisiologia , Potenciais de Ação/fisiologia , Estudos de Casos e Controles , Estimulação Elétrica/métodos , Feminino , Humanos , Masculino , Nervo Mediano/efeitos da radiação , Pessoa de Meia-Idade , Músculo Esquelético/fisiopatologia , Músculo Esquelético/efeitos da radiação , Condução Nervosa/fisiologia , Tempo de Reação/efeitos da radiação , Estatísticas não ParamétricasRESUMO
We sought to examine the changes in the strength-duration time constant (SDTC) of the median nerve in diabetic polyneuropathy. The SDTC is a measure of axonal excitability and depends on the biophysical properties of the axonal membrane. It may provide some information about Na(+) channel functioning. Forty-nine diabetic patients (30 men, 19 women; mean age, 54.6+/-9.4 years) and 15 age-matched healthy subjects (11 men, 4 women; mean age, 53.1+/-7.6 years) participated in the study. SDTC and rheobase values were 384.5+/-97.9 micros and 4.6+/-2.4 mA in patients and 313.8+/-46.7 micros and 6.0+/-2.6 mA in controls. The SDTC was found to be significantly different between the two groups (P=.009 for SDTC and P=.066 for rheobase). Fasting glucose and HbA1c levels of patients were 206.6+/-88.7 mg/dL and 8.8+/-2.4%, and these were not correlated with SDTC or rheobase (P<.05). We suggest that longer SDTC, indicating increased axonal excitability may develop in patients with polyneuropathy associated with uncontrolled diabetes.
Assuntos
Neuropatias Diabéticas/fisiopatologia , Nervo Mediano/fisiopatologia , Força Muscular/fisiologia , Polineuropatias/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Canais de Sódio/fisiologia , ATPase Trocadora de Sódio-Potássio/metabolismo , Nervo Sural/fisiopatologiaRESUMO
The purpose of this study was to investigate the actions of lamotrigine and levetiracetam on the conduction properties of isolated rat sciatic nerves in-vitro. Compound action potentials from rat sciatic nerves were recorded using a sucrose-gap technique with single and repetitive stimulation. Lamotrigine, at 0.01 to 1 mM, reduced the amplitude of compound action potentials (3.9+/-0.6% to 47.9+/-2.4%) and produced at high frequency dependent (phasic) and independent (tonic) conduction block. Lamotrigine extended the peak time of the compound action potentials significantly without changing the half falling-time (P<0.05). Lamotrigine reduced the amplitude of the delayed depolarization, which was more pronounced than that of the amplitude of the compound action potentials in the presence of 4-aminopyridine. With tonic and phasic stimulation, 0.1 to 10 mM of levetiracetam did not alter the amplitude, peak time and half falling time of the compound action potentials. In addition, levetiracetam did not change the amplitude of the delayed depolarization and the area of the compound action potentials following application of 4-aminopyridine. These results indicate that lamotrigine produces a powerful tonic block with delayed depolarization, whereas it produces a weaker phasic block in rat sciatic nerve. Levetiracetam has no effect on peripheral nerve conduction even at high concentrations. These results may have the relevance to our understanding of the peripheral effects of lamotrigine and levetiracetam.
Assuntos
Anticonvulsivantes/farmacologia , Condução Nervosa/efeitos dos fármacos , Piracetam/análogos & derivados , Nervo Isquiático/efeitos dos fármacos , Triazinas/farmacologia , 4-Aminopiridina/farmacologia , Potenciais de Ação/efeitos dos fármacos , Animais , Relação Dose-Resposta a Droga , Eletrofisiologia , Feminino , Técnicas In Vitro , Lamotrigina , Levetiracetam , Técnicas de Patch-Clamp , Piracetam/farmacologia , Bloqueadores dos Canais de Potássio/farmacologia , Ratos , Ratos WistarRESUMO
OBJECTIVE: To evaluate the possible effects of sex and age on strength-duration time constant (SDTC). METHODS: The SDTC of 126 healthy volunteers was measured following stimulation of right median nerve at the wrist. Variations in values were evaluated according to sex and age. RESULTS: The SDTC was 438.6+/-114.5 micros in women and 396.2+/-90.3 in men (P=.023). In men, as age increased, so did SDTC. However, this was not true in women. Comparing the values of women and men, aged below 40, demonstrated a difference in excitability, confined to younger patients. CONCLUSIONS: As SDTC depends on the biophysical properties of the axonal membrane and can provide some information about Na(+) channel function, these data raise the possibility of a difference in Na(+) channel function between men and women and a difference in the conductance with age. SIGNIFICANCE: The age- and sex-related differences shown in this study suggest a possible biochemical or hormonal influence on axonal excitability.
Assuntos
Potenciais de Ação/fisiologia , Envelhecimento/fisiologia , Tempo de Reação/fisiologia , Caracteres Sexuais , Potenciais de Ação/efeitos da radiação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Relação Dose-Resposta à Radiação , Estimulação Elétrica/métodos , Feminino , Humanos , Masculino , Nervo Mediano/fisiologia , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Condução Nervosa/efeitos da radiação , Tempo de Reação/efeitos da radiação , Punho/inervação , Punho/fisiologiaRESUMO
Motor unit number estimation (MUNE), is a method developed to determine the numbers of motor axons to the best possible quantity. In this study, we aimed to test the MUNE in different age groups in the normal population. This study was done on healthy volunteers who had not neither peripheral nerve nor systemic/ metabolic disease, and had a normal neurological examination. All had normal median and ulnar nerve conduction velocities. One hundred and ten subjects including 58 males and 52 females at a mean age of 38.9 +/- 6.6 years were evaluated in 3 age groups. There were 36 volunteers in the age range of 15-30, 44 in the age range of 31-45, and 30 in the age range > or = 46 (46-83). Manual incremental method was performed for MUNE. Studies and recordings with a stimulation of 0.1 msec in all subjects were completed. Gender did not have an effect on the scores (p = 0.472). Motor units detected by MUNE showed a relative decrease with ageing; however this was not statistically significant.
Assuntos
Envelhecimento/fisiologia , Neurônios Motores/fisiologia , Músculo Esquelético/inervação , Junção Neuromuscular/anatomia & histologia , Junção Neuromuscular/fisiologia , Caracteres Sexuais , Adolescente , Adulto , Fatores Etários , Idoso , Estimulação Elétrica , Eletromiografia , Feminino , Humanos , Masculino , Nervo Mediano/anatomia & histologia , Nervo Mediano/fisiologia , Pessoa de Meia-Idade , Contração Muscular/fisiologia , Músculo Esquelético/fisiologia , Fatores Sexuais , Polegar/inervação , Polegar/fisiologiaRESUMO
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by progressive degeneration of the motor neurons. It is difficult to define the severity of the clinical findings of this destructive disease owing to its rapid progression, which presents serious alterations in a short time even in the same patient. The present study was designed to evaulate the validity of the Turkish version of the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R), which has been used in various countries for measuring the functional status of ALS patients. METHODS: The ALSFRS-R scores of 41 ALS patients (24 male), in any stages of illness, were simultaneously assessed by two physicians. The functional status of the patients (motor system, bulbar, and pulmonary functions) was evaluated under 12 titles. In every subtitle, the functional status was evaluated as 0 for the worst functional status and 4 for the best functional status. The mean differentials for both subtitles and global scores and the 95% confidence bounds of these means were detected. The coherence was defined as the states in which the coefficient is above 0.80 and is statistically significant. RESULTS: From the data obtained, the correlation between the two physicians was found to be statistically significant (p=0.000) in terms of the means of both subtitles and total scores. CONCLUSION: It was shown in the present study that in the clinical follow-up of the disease, the Turkish version of ALSFRS-R is a simple, reliable, and easily applicable.
RESUMO
BACKGROUND: The knowledge regarding myocardial alterations in patients with obstructive sleep apnea syndrome (OSAS) in the absence of any known cardiovascular disorders including hypertension is limited. The aim of this study was to assess the early alterations of left ventricular (LV) functions caused by OSAS before the development of hypertension and other cardiovascular manifestations of OSAS. METHODS: Eighty consecutive patients who underwent polysomnography (PSG) were enrolled in the study. Patients with hypertension, diabetes mellitus or any other known cardiac diseases were excluded from the study. Subjects were separated into two groups by their apnea/hypopnea index (AHI) (group 1: AHI < 15, and group 2: AHI ≥ 15). Fourty-three patients with normal polysomnographic examination or mild OSAS (group 1) and 37 patients with moderate to severe OSAS (group 2) were compared. After PSG examination, LV functions were assessed by using the conventional and tissue Doppler echocardiographic methods. RESULTS: The mean age was similar between the groups. The ratio of male patients was higher in group 2 (male/female: 31/12 in group 1 vs. 34/3 in group 2, p = 0.04). Body mass index was higher in group 2 (p = 0.05). Conventional echocardiography showed that interventricular septum thickness was 9.5 ± 1.1 mm in group 1, and 10.5 ± 1.4 mm in group 2 (p = 0.02). Mean left atrial diameter was 35.6 ± 4.1 mm in group 2, and 33.8 ± 3.1 mm in group 1 (p = 0.04). Ratio of early to late transmitral diastolic velocities was lower in group 2 (p = 0.01), indicating that impairment of diastolic function was more frequent in moderate to severe OSAS patients. Tissue Doppler echocardiography showed that early diastolic myocardial velocity was lower ingroup 2 (21.1 ± 5.6 cm/s in group 1 vs. 18.3 ± 5.3 cm/s in group 2, p = 0.01). CONCLUSIONS: Left ventricular diastolic dysfunction, LV hypertrophy and left atrial dilatationoccur in patients with OSAS even before the development of hypertension and other cardiovascular diseases.
Assuntos
Apneia Obstrutiva do Sono/complicações , Disfunção Ventricular Esquerda/etiologia , Função Ventricular Esquerda , Adulto , Índice de Massa Corporal , Ecocardiografia Doppler , Feminino , Átrios do Coração/diagnóstico por imagem , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Hipertrofia Ventricular Esquerda/etiologia , Hipertrofia Ventricular Esquerda/fisiopatologia , Masculino , Pessoa de Meia-Idade , Polissonografia , Valor Preditivo dos Testes , Índice de Gravidade de Doença , Apneia Obstrutiva do Sono/diagnóstico , Fatores de Tempo , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/fisiopatologiaRESUMO
OBJECTIVE: Oxcarbazepine is an antiepileptic drug widely used for the treatment of neuropathic pain. In the present study, the effects of oxcarbazepine and lamotrigine on conduction properties in the rat sciatic nerves were examined. METHODS: The experiments were conducted with in vitro sucrose-gap technique on the isolated wistar rat sciatic nerves. The compound action potentials were obtained by tonic (single) and phasic (10, 40, and 100 Hz) stimulation. RESULTS: Oxcarbazepine produced a significant concentration- and frequency-dependent reduction in the compound action potential amplitude. When the two drugs were applied at concentrations that produced equal levels of tonic (i.e., non-frequency-dependent) conduction block, oxcarbazepine produced the greatest phasic (i.e., frequency-dependent) conduction block, followed by lamotrigine. Oxcarbazepine and lamotrigine reduced the 4-aminopyridine-induced amplitude of delayed depolarization; however, oxcarbazepine had a significantly greater effect than lamotrigine. CONCLUSION: These results suggest that oxcarbazepine produces more potent frequency-dependent conduction block than lamotrigine, and suppresses the delayed depolarization which contributes to sensory signaling and may play a role in neuropathic pain. The findings provide insight into the mechanisms of action of oxcarbazepine and lamotrigine and may help in the development of novel therapies for neuropathic pain.
Assuntos
Anticonvulsivantes/farmacologia , Carbamazepina/análogos & derivados , Condução Nervosa/efeitos dos fármacos , Nervo Isquiático/efeitos dos fármacos , Triazinas/farmacologia , 4-Aminopiridina/antagonistas & inibidores , 4-Aminopiridina/farmacologia , Potenciais de Ação/efeitos dos fármacos , Potenciais de Ação/fisiologia , Animais , Carbamazepina/farmacologia , Interações Medicamentosas , Estimulação Elétrica/métodos , Feminino , Lamotrigina , Condução Nervosa/fisiologia , Oxcarbazepina , Ratos , Ratos Wistar , Nervo Isquiático/fisiologiaRESUMO
In this prospective study, we aimed to determine the prevalence of migraine and non-migraine headaches using a questionnaire, including ID Migraine, for university students. The study was designed cross-sectionally and a questionnaire consisting of 43 questions was applied to 1,256 students. The questionnaire consisted of questions related to demographic, social, curriculum, housing and headache characteristics of the subjects. Three-item screening questions of the ID Migraine test were included at the end of the questionnaire aimed at migraine diagnosis. The mean age of 1,256 students (529 females and 727 males) enrolled in this study was 21.9 +/- 2.1 years (17-31 years). Migraine-type headache was detected in 265 subjects (21.9%) based on the ID Migraine evaluation. Of these, 145 (54.7%) were female and 120 (45.3%) were male (female/male ratio: 1.2/1). Non-migraine-type headache was identified in 864 subjects, with 357 females and 507 males. As a conclusion, ID Migraine screening test might be practical and beneficial when a face-to-face interview is not possible or to pre-determine the subjects for a face-to-face interview for migraine diagnosis in larger populations.
Assuntos
Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/epidemiologia , Estudantes , Universidades , Adolescente , Adulto , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Prevalência , Estudos Prospectivos , Índice de Gravidade de Doença , Inquéritos e Questionários , Turquia/epidemiologiaRESUMO
Axonal excitability studies have been used in several diseases to investigate the underlying pathophysiology. The threshold tracking technique was developed to measure noninvasively several indices of axonal excitability, such as strength-duration properties. This study investigated the possible effects of botulinum toxin on strength-duration time constant (SDTC) in patients with the symptoms and signs of botulism. The clinical and electrophysiological findings of 13 patients who were admitted to the authors' clinic with botulism signs and symptoms were evaluated in a 5-day period after exposure to the toxin prospectively. After routine diagnostic electroneuromyographic examinations and electromyogram with repetitive nerve stimulation at 20-50 Hz, SDTC was studied. The results were compared with 13 age- and sex-matched healthy volunteers. The SDTCs were 381 +/- 60 micros and 471 +/- 84 micros in patients and controls, respectively. There was a statistical difference between the two groups (p = .003, Mann Whitney U test). These findings suggest a possible effect of botulinum toxin, known to be effective at neuromuscular junction, on Na(+)/K(+) pump activity, and Na(+) or K(+) conductance.
Assuntos
Axônios/fisiologia , Toxinas Botulínicas/efeitos adversos , Botulismo/fisiopatologia , Condução Nervosa/fisiologia , Venenos/efeitos adversos , Adulto , Axônios/efeitos dos fármacos , Toxinas Botulínicas/intoxicação , Botulismo/diagnóstico , Eletromiografia , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/inervação , Músculo Esquelético/fisiologia , Condução Nervosa/efeitos dos fármacosRESUMO
Charcot-Marie-Tooth (CMT) is a common inherited peripheral neuropathy with a prevalence of 1 in 2,500. CMT has two distinct forms (CMT1 and CMT2) that can be identified electrophysiologically. A 1.5 Mb tandem microduplication including peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2-12 causes CMT1A. The increased gene dosage effect of PMP22 is thought to be responsible for the pathogenesis of CMT1A. In this study, 39 Turkish CMT1A patients and 60 unrelated control samples had been examined for the duplication using polymorphic short tandem repeat (STR) markers. Seven STR marker sites (AC005838-4A-, AC0013248-9A-, AC0013248-9B-, D17S2218, D17S2220, D17S2227, and D17S2229) on the duplicated region were amplified via polymerase chain reaction, electrophoresed through 8% polyacrilamide gel and evaluated for the duplication. The rate of duplication was 92.3' (36/39) in the patients whereas it was zero in the control samples. Allele distributions, number of alleles and heterozygosity values of more informative markers (D17S2218, D17S2220, D17S2227, and D17S2229) were assessed. It is found that approximately 85% of duplications in Turkish CMT1A patients were depicted by using D17S2220 and D17S2229 markers together.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Cromossomos Humanos Par 17 , Duplicação Gênica , Repetições de Microssatélites , Proteínas da Mielina/genética , Alelos , Eletroforese em Gel de Poliacrilamida , Marcadores Genéticos , Haplótipos , Heterozigoto , Humanos , Reação em Cadeia da PolimeraseRESUMO
Headache is one of the most common neurological complaints of the young population and it affects the quality of life due to limitation of daily activities. In this study, our main goal was to appraise the general headache characteristics in senior medical students just before graduation and to determine the impact of headache on the quality of life, as well as the general attitude of students about their headaches. The study group consisted of 141 senior students. As the first step, the question about "having headache within the past one year period" was asked. Of the 141 students, 127 students answering "yes" were invited to a face-to-face interview. Of these, 67 students (52.8%) participated in the second evaluation. The second evaluation consisted of history taking and neurological and physical examination. All subjects were classified according to the International Classification of Headache Disorders (2nd edition) criteria. Validated Turkish version of Migraine Disability Assessment questionnaire was given to the subjects to evaluate the socio-economical impact of headache. Tension-type headache, which is the most common form of primary headaches, was identified in 34 students (50.7%) out of 67 students. Migraine was detected in 31 students (46.3%). This is the first study performed on a face-to-face interview basis with medical students using the new classification criteria in Turkey. Astonishingly, most of the students (n:65) ignored their headaches and did not seek medication, despite the negative impact of headache on daily functioning and overall quality of life.
Assuntos
Transtornos de Enxaqueca/diagnóstico , Cefaleia do Tipo Tensional/diagnóstico , Adulto , Saúde da Família , Feminino , Humanos , Masculino , Pais , Índice de Gravidade de Doença , Estudantes , Estudantes de Medicina , Inquéritos e Questionários , UniversidadesRESUMO
Degenerative or destructive processes result in the loss of whole motor neurons or in the peripheral axon portion. Loss of motor axons or neurons, and conduction blocks, are the basis of the weakness seen in most patients with neurogenic disease. The severity of the clinical deficit is directly associated with the number of the motor neurons or/and axons lost or blocked. So, it is important to find out the number of the functional motor units while evaluating neuromuscular disease. In neurological practice, motor unit number estimation studies are made in many diseases, especially in anterior horn disease. Entrapment neuropathies are one of these diseases. This study utilized motor unit number estimate testing in 50 patients with carpal tunnel syndrome and 34 controls without any systemic disease. The authors compared the results of these two groups and found statistical significance ( p < .0001).
Assuntos
Axônios/fisiologia , Síndrome do Túnel Carpal/fisiopatologia , Nervo Mediano/fisiopatologia , Neurônios Motores/fisiologia , Junção Neuromuscular/fisiopatologia , Degeneração Walleriana/fisiopatologia , Adulto , Axônios/patologia , Síndrome do Túnel Carpal/diagnóstico , Contagem de Células/métodos , Avaliação da Deficiência , Eletrodiagnóstico , Feminino , Mãos/inervação , Mãos/fisiopatologia , Humanos , Masculino , Nervo Mediano/patologia , Pessoa de Meia-Idade , Neurônios Motores/patologia , Contração Muscular/fisiologia , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Condução Nervosa/fisiologia , Junção Neuromuscular/patologia , Tempo de Reação/fisiologia , Degeneração Walleriana/diagnósticoRESUMO
Charcot-Marie-Tooth (CMT) disease is a hereditary demyelinating peripheral neuropathy, and CMT Type 1A is the most common form. In most cases, CMT1A is usually caused by duplication at chromosome 17p11.2-12. Type 2 diabetes mellitus (Type 2 DM) is a common metabolic disorder, characterized by chronic hyperglycemia that can be associated with micro- and/or macrovascular complications. Only a few studies reported CMT1A duplication in association with Type 2 DM. This article explores the characteristics of a large family of 69 members with respect to CMT1A and Type 2 DM. CMT1A was detected in 28 of them. Molecular genetic study was performed in 22, and duplication was detected in all of them. Six of the 22 members with CMT1A also had Type 2 DM based on the American Diabetes Association diagnostic criteria. Association of these two conditions may be coincidental; however, the occurrence of these two diseases in this large family may also suggest a genetic basis. More extensive reports and further investigations of such families having this combination will certainly provide a better understanding of this link.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Cromossomos Humanos Par 17/genética , Diabetes Mellitus Tipo 2/genética , Proteínas da Mielina/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Doença de Charcot-Marie-Tooth/complicações , Doença de Charcot-Marie-Tooth/diagnóstico , Pré-Escolar , Diabetes Mellitus Tipo 2/complicações , Eletromiografia , Saúde da Família , Feminino , Duplicação Gênica , Humanos , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant, slowly progressive neuromuscular disorder, which is characterized by recurrent acute peripheral nerve palsies. Electrophysiological studies show decreased motor and sensory conduction velocities in both clinically affected and unaffected nerves. Focal thickening of myelin sheath with sausage-like formation, also called tomacula, is seen in nerve biopsies. In genetic studies, 1.5-Mb deletion on chromosome 17p11.2 is detected in approximately 85% of HNPP cases and point mutations are determined in some cases. We describe a 26-year-old man who had a 6-month history of paresthesia in the little fingers of his hands. He was diagnosed with HNPP by neurologic examination, and electrophysiological and histopathologic studies. Studies in his mother and one brother also showed entrapment neuropathy. However, no deletions or point mutations were determined in this family. Other genetic defects apart from the known ones might be present in this disease. The most frequent entrapment syndrome, carpal tunnel syndrome, is also seen in this disease, so physicians dealing with musculoskeletal problems should be alert about this subject. Awareness of HNPP may help avoid unnecessary operative interventions.
Assuntos
Neuropatia Hereditária Motora e Sensorial/diagnóstico , Neuropatia Hereditária Motora e Sensorial/genética , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa , Exame Neurológico , LinhagemRESUMO
Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary spinocerebellar ataxia (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position. Results of GAA repeat polymorphism in 80 Turkish SCA patients and 38 family members of 11 typical FRDA patients were reported. GAA triplet repeat size ranged from approximately 7 to 34 in normal alleles and from approximately 66 to 1300 in mutant alleles. Twenty six patients were homozygous for GAA expansion and size of expanded alleles differed from approximately 425 to 1300 repeats. Children 2 and 6 years old (showing no ataxia symptoms) of one family had homozygous GAA expansions reaching approximately 925 repeats. All 11 families studied had at least 1 afflicted child and 9 parents and 2 siblings were carrier (heterozygous) with mutant alleles ranging from 66 to 850 repeats. Family studies confirmed the meiotic instability and stronger effect of expansion in the smaller alleles on phenotype and a negative correlation between GAA repeat expansion size and onset-age of the disease.
Assuntos
Ataxia de Friedreich/genética , Proteínas de Ligação ao Ferro/genética , Polimorfismo Genético , Expansão das Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Criança , Análise Mutacional de DNA/métodos , Saúde da Família , Feminino , Humanos , Masculino , Turquia/epidemiologia , FrataxinaRESUMO
This study was planned to investigate the economic impact of headache on Turkish headache sufferers attending a tertiary care outpatient headache clinic.A total of 937 headache patients were included in this study and questioned using a questionnaire for the profile of patients and headache, quality of life of patients and economic impact of headache. The median total direct cost was found to be 88.0 USD and the median total cost was 160.7 USD. The drug treatment cost was the highest item followed by the specialist outpatient care cost. The average lost and inefficient work/school days was 1.5 (0-45) and 8.4 (0-100) days for one year. It was shown that loss of productivity was higher for migraine without aura group when compared with the episodic and chronic tension-type headache groups. The results of this nationwide university hospital based study methshowed that headache, especially migraine, has considerable economic impact on patients.
Assuntos
Efeitos Psicossociais da Doença , Transtornos da Cefaleia Primários/economia , Transtornos da Cefaleia Primários/epidemiologia , Hospitais Universitários , Adolescente , Adulto , Pesquisa Biomédica/economia , Estudos Transversais , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Turquia/epidemiologiaRESUMO
Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary ataxia, is an autosomal recessive neurodegenerative disorder caused by unstable GAA expansions. Two-dimensional, pulse, and pulse tissue Doppler echocardiographic examinations were performed on 21 patients with GAA expansion. There was no association between left ventricle ejection fraction, tissue Doppler systolic s wave, and left ventricle diastolic functions examined by pulse and tissue Doppler. The septum thickness of patients with Friedreich's ataxia was significantly increased when compared with that of the control group and wall thickness was found to be associated with GAA repeats. In patients with FRDA, despite a correlation between genetic abnormality with left ventricular early and late diastolic parameters, global diastolic functions were preserved when examined by tissue Doppler.