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1.
Exp Ther Med ; 28(1): 291, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38827471

RESUMEN

The Ilizarov technology was proposed by Former Soviet orthopedic physician Ilizarov. It is a medical method to reconstruct missing tissues. Ilizarov technology combined with soft tissue stretching technology is of great significance in the treatment of common orthopedic problems like bone defects, finger absence, joint contracture and joint stiffness following thermal-crush injuries of the hand. In the present study a 25-year-old male patient sought for limb salvage treatment 1 month after sustaining thermal-crush injuries of the right hand and forearm. The patient had been treated by another hospital with multiple procedures of debridement, and recommended for forearm amputation. The patient was diagnosed with: i) Postoperative infection of thermal-crush injuries of the right hand and right forearm; ii) comminuted open fractures of the proximal and distal phalanges of the right thumb; iii) osteomyelitis; iv) palm skin defects with exposed tendons; and v) skin defects of the opisthenar and the forearm. After a series of treatments including debridement, removal of necrotic tissue, tissue transplantation, skin pedicle, bone lengthening, external shaping, tissue release, joint fusion, traction and rehabilitation exercises, the patient recovered some hand function. Overall, thermal-crush injuries of the hand are severe, complicated combined injuries composed of both heat burn and compression injury and their treatment is challenging. Overall, microsurgery combined with Ilizarov technology can effectively reconstruct the function of complex thermal-crush injuries of the hand.

2.
JPRAS Open ; 40: 245-252, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38694441

RESUMEN

Background: The fingertip amputation is an amputation type of the finger beyond the proximal nail fold. There is no vein available for anastomoses on the dorsal side of the finger, and the palmar vein of the finger is small and tightly attached to the skin. Therefore, it is relatively difficult to implement surgical anastomoses, which poses challenges to the clinical treatment of fingertip amputations. Case report: A 29-year-old male was admitted to the hospital due to "the amputation of the fingertips of the right index, middle, and ring fingers caused by a heavy object compression 3 h ago". The admission examination revealed that the right index, middle, and ring fingers were completely severed at the 1/2 plane of the nail bed, with irregular sections, severe contusion, and pollution. The X-ray examination showed comminuted fractures of the distal phalanges of the right index, middle, and ring fingers. Based on these findings, the patient was diagnosed with multiple severed fingertips of the right hand (Tamai Zone 1). The patient underwent debridement, vascular exploration, and replantation of the right index, middle, and ring fingertips under emergency general anesthesia. After surgery, anti-inflammatory, spasmolytic, and anticoagulant treatment and regular dressing changes were conducted. The patient did not receive a blood transfusion, and all three fingers survived. The appearance of these fingers was favorable 3 months after surgery, and the flexion and extension of these fingers were normal. Eventually, the patient achieved excellent Chen's hand function scores. Conclusions: To the best of our knowledge, this may be the first successful case regarding the replantation of three fingertips after amputations in Tamai Zone 1 with favorable outcomes. It can be maintained that super microsurgery can be used for the replantation of multiple fingertip amputations.

3.
JPRAS Open ; 38: 201-205, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37929061

RESUMEN

Retrieval of four finger injury at proximal stump amputation with segmental injury along with soft tissue defect and impending compartment syndrome continues to be challenge for the surgeon. Immediate transplant considering temporary ectopic foster as a practical option in special case. We describe temporary ectopic finger implant for crush injury at Metacarpophalangeal (MCP level) with hand torsion along with forearm compartment was fostered to Dorsum of the foot. The torsion fingers was temporary fixed with mini external fixator for stabilization as salvage, ALT free flap was used to cover soft tissue defect of the hand. Replantation of survived figure was performed using the long pedicle to anatomical site without crushing the MCP joint to allow for later tendon transfer for finger. Satisfactory function regained with no foster site (foot) complication like pain or disability. The author validated ectopic foster for amputee as and procedure of choice for salvage of extremity under special circumstances.

4.
Plast Reconstr Surg Glob Open ; 11(8): e5207, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37588475

RESUMEN

Necrotizing soft tissue infection (NSTI) is a complex infection known for its rapid progression of necrosis within the subcutaneous tissue and fascia. Time is of essence for the management of NSTI. In this report, we present a case of NSTI after infection of poorly managed diabetic foot ulcer in the ankle. The limb salvage approach involves sequential staged procedures. Multiple surgical debridements and "washout" were performed for source control. At the same time, the patient also received a systemic antibiotic regimen. In the second stage, a perforator free flap taken from the anterolateral thigh was used to repair the extensive soft tissue defect and reconstruct a functional foot to achieve maximal limb salvage. The kickstand technique of external fixation was used to reduce soft tissue compression and enhance the surgical offloading of the skin flap. At the 2-year follow-up, the skin integrity of the flap was well-preserved, and the patient returned to his premorbid quality of life.

5.
Front Surg ; 9: 941568, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36420413

RESUMEN

Background: Atrophie blanche (AB) is a thrombotic vascular disease, also known as venous vasculitis or segmental hyaline vasculitis, characterized by chronic recurring painful ulcers on the lower legs, especially the ankles. AB is a clinically rare condition, affecting 1%-5% of the population, specifically middle-aged women with an average age of 45 years, and cases of AB in children are rare. Following recovery, ivory-white atrophy spots accompanied by pigmentation and telangiectasia remain in patients. One of the complications of AB is the parasitic growth of microorganisms infecting the ischemic soft tissue undergoing necrosis in the lower limbs. Furthermore, although infection combined with microbial parasitism is a type of surgical site infection, myiasis is particularly rare, which may warrant limb amputation or may even be life-threatening. Understanding the complications of AB may help in early and timely surgical debridement as well as wound repair. Summarizing the knowledge and treatment strategies of AB and formulating clinical strategies and guidelines for AB management with insights from relevant cases are important. Case summary: A 59-year-old woman was hospitalized due to repeated ulceration of the skin of the right lower leg for 3 years, aggravation, and maggot growth for 3 days. In the previous 3 years, the skin and soft tissue of the right calf had become ischemic, necrotic, and infected, but the patient did not seek any medical treatment. Subsequently, 2 years ago, she was diagnosed with AB at the dermatology department of our hospital. After hormone treatment, her right leg improved. However, 1 year ago, the skin and soft tissue of the right leg again became ischemic, necrotic, and infected. This time, the patient did not seek medical treatment and applied musk on her wound. The wound deepened, resulting in the exposure of the tendon and some bones. In addition, a large number of maggots and microorganisms grew in and infested the wound for 3 days before the patient came to our department for treatment. Debridement of the necrotizing infected site on the right lower leg combined with negative pressure vacuum sealing drainage were performed twice within 16 days after admission. Simultaneously, antibiotics were given systemically. On the 17th day after admission, the wound appeared clean, myiasis had resolved, and the growth and coverage of the granulation tissue on the wound were satisfactory. Subsequently, debridement of the infected site on the right leg, removal of skin of the right thigh, and autologous free skin grafting were performed. After 10 days, the wound was clean, all skin grafts had survived, and wound repair was satisfactory. Finally, the patient was discharged after 38 days of hospitalization. Conclusion: Although AB is rare, leukodystrophy requires specialized treatment and regular follow-up. If lower limb infection and maggot growth occur simultaneously, self-treatment should be avoided and medical attention must be sought immediately. Early implementation of wound debridement and anti-infective treatment combined with wound repair, which should be performed after cleaning the wound, is advised.

6.
Front Neurol ; 12: 663559, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34046004

RESUMEN

Objectives: Reductions in the peripapillary retinal nerve fiber layer (pRNFL) have been reported in epilepsy, namely in drug-resistant people. Hippocampal sclerosis (HS) is the most frequent cause of drug-resistant epilepsy in tertiary care centers. We aimed to evaluate the likelihood and characteristic of RNFL loss in individuals with epilepsy having HS. Methods: Fifty-five adults diagnosed with unilateral HS (mean age of 25 years; 42 female) by magnetic resonance imaging were included in this observational cross-sectional study, 58 age-matched individuals with epilepsy with no detectable structural brain abnormality were included as non-HS, and 55 people without neurological diseases were included as healthy controls. pRNFL of both eyes was measured by optical coherence tomography (OCT). In each individual disease related information was recorded. Results: Among the 55 individuals with unilateral HS, one (1.82%) and ten (18.18%) had significant or borderline abnormal thinning of the pRNFL of the ipsilateral eye to the HS. The average pRNFL ipsilateral to the side of HS was significantly thinner than people with epilepsy non-HS (p = 0.013) and healthy controls (p = 0.000), especially in the inferior quadrants. Only age was significantly correlated with the average and inferior quadrant pRNFL thickness of the ipsilateral eye to the HS (R = -0.286, p = 0.035; R = -0.353, p = 0.008 respectively). Conclusion: These preliminary findings suggest that retinal abnormalities associated with HS may have a specific pattern. Further studies need to confirm this finding and to unravel the underlying mechanism.

7.
World J Surg Oncol ; 18(1): 130, 2020 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-32546168

RESUMEN

BACKGROUND: Accurate prediction of recurrence-free survival (RFS) is important for the prognosis of cutaneous melanoma patients. The image-based pathological examination remains as the gold standard for diagnosis. It is of clinical interest to account for computer-aided processing of pathology image when performing prognostic analysis. METHODS: We enrolled in this study a total of 152 patients from TCGA-SKCM (The Cancer Genome Atlas Skin Cutaneous Melanoma project) with complete information in recurrence-related survival time, baseline variables (clinicopathologic variables, mutation status of BRAF and NRAS genes), gene expression data, and whole slide image (WSI) features. We preprocessed WSI to segment global or nucleus areas, and extracted 3 types of texture features from each region. We performed cross validation and used multiple evaluation metrics including C-index and time-dependent AUC to determine the best model of predicting recurrence events. We further performed differential gene expression analysis between the higher and lower-risk groups within AJCC pathologic tumor stage III patients to explore the underlying molecular mechanisms driving risk stratification. RESULTS: The model combining baseline variables and WSI features had the best performance among models with any other types of data integration. The prognostic risk score generated by this model could provide a higher-resolution risk stratification within pathologically defined subgroups. We found the selected image features captured important immune-related variations, such as the aberration of expression in T cell activation and proliferation gene sets, and therefore contributed to the improved prediction. CONCLUSIONS: Our study provided a prognostic model based on the combination of baseline variables and computer-processed WSI features. This model provided more accurate prediction than models based on other types of data combination in recurrence-free survival analysis. TRIAL REGISTRATION: This study was based on public open data from TCGA and hence the study objects were retrospectively registered.


Asunto(s)
Biomarcadores de Tumor/análisis , Técnicas Histológicas/métodos , Procesamiento de Imagen Asistido por Computador/métodos , Melanoma/mortalidad , Patología Clínica/métodos , Neoplasias Cutáneas/mortalidad , Transcriptoma , Femenino , Humanos , Masculino , Melanoma/diagnóstico por imagen , Melanoma/genética , Melanoma/patología , Persona de Mediana Edad , Mutación , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Tasa de Supervivencia , Melanoma Cutáneo Maligno
8.
Seizure ; 72: 49-53, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31600677

RESUMEN

PURPOSE: Japanese encephalitis (JE), the main cause of viral encephalitis in Asia, usually presents with acute symptomatic seizures; however, there have been very few systematic reports regarding late unprovoked seizures and epilepsy. We aimed to describe the clinical features and outcomes of post-encephalitic epilepsy following JE. METHODS: Patients with epilepsy with a previous confirmed diagnosis of JE visiting West China Hospital from 2013 to 2019 were enrolled in the observational case-controlled study. Patients with epilepsy with a history of other non-specific viral encephalitis were enrolled as controls. For all enrolled subjects, disease related information was recorded. RESULTS: Forty-eight patients with JE (20 males; median age, 21.0 years; average epilepsy duration, 8.55 years) were identified. The median duration from JE to the first unprovoked seizure was 7.73 years, which significantly differed from that of the controls (7.73 vs. 2.69 years, respectively; p = 4.59 × 10-6). Most patients had focal epilepsy, and 29 (78.38%) were drug resistant. Among 45 patients with available neuroimaging data, three in fourth had no obvious abnormality, and the temporal lobe and hippocampus (22.22%) were the most affected brain regions. Six patients had surgery, and three achieved class-one seizure-free status. CONCLUSION: The latency to the first unprovoked seizure was longer in patients with JE than controls. Regarding chronic epilepsy, three in four had structural abnormalities, and the long-term outcomes of post-encephalitic epilepsy following JE were poor. Surgery remains an option for drug-resistant epilepsy.


Asunto(s)
Análisis de Datos , Encefalitis Japonesa/diagnóstico por imagen , Encefalitis Japonesa/epidemiología , Epilepsia/diagnóstico por imagen , Epilepsia/epidemiología , Neuroimagen/tendencias , Adolescente , Adulto , Estudios de Casos y Controles , China/epidemiología , Encefalitis Japonesa/fisiopatología , Epilepsia/fisiopatología , Femenino , Humanos , Masculino , Resultado del Tratamiento , Adulto Joven
9.
Front Neurol ; 10: 918, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31507521

RESUMEN

Japanese encephalitis (JE) is the most important cause of viral encephalitis in Asia, with most cases seen in children <15 years. Recently, cases of JE in people aged >50 years have been increasingly reported, but the clinical presentation in these cases is largely unknown. We report here the first case series of elderly JE patients from an adult tertiary hospital in West China. Medical records of laboratory-confirmed JE patients diagnosed from January 2011 to September 2018 were reviewed retrospectively. Patients were grouped into the elderly (patients > 50 years old) and control groups (patients aged 14-50 years). Data regarding demographics, clinical features, and outcome at discharge were collected. Telephonic follow-up was performed with the survivors in November 2018. Of the 50 patients with laboratory-confirmed JE, 11 were aged >50 years. In the elderly group, all patients had high fever and altered sensorium, and six had symptomatic seizures. Though the key symptoms as well as the cerebrospinal fluid and neuroimaging findings were similar in both groups, the worst Glasgow coma scale score was lower in the elderly group (6.14 ± 2.27 vs. 10.54 ± 3.37, p = 0.001). Compared to the control group, the incidence of acute secondary complications, including respiratory failure requiring mechanical ventilation or tracheotomy (81.82%), hypoalbuminemia (100%), thrombocytopenia (100%), deep venous thrombosis (63.64%), septicemia (36.36%), and upper gastrointestinal bleeding (27.27%) was higher in the elderly. The median modified Rankin scale (mRS) score at discharge was lower in the elderly group than in the control group (5 vs. 3, p = 0.017), with four and two cases of death, respectively. During the average 18-month follow-up, the median mRS score was 5 in the elderly and 2 in the control group (p = 0.001). Patients >50 years old accounted for 22% of JE cases diagnosed in a tertiary adult center, with high mortality rate and long-term disability compared to younger patients. Though no particular findings were found regarding clinical features and investigations in patients >50 years, most needed intensive care. In the future, it is imperative to recognize the importance of JE in adults and to reconsider the vaccination strategy in adult residents of endemic areas, especially for those over 50 years.

10.
Medicine (Baltimore) ; 98(27): e16156, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31277117

RESUMEN

The occurrence of seizures during pregnancy is really a challenging situation which risks the health of both mothers and fetuses. However, new onset epilepsy is unpredictable in pregnancy, and its clinic feature is barely known. This study aimed to explore the clinical characteristics and pregnancy outcomes of new onset epilepsy during pregnancy.We screened consecutive women with epilepsy and reproductive history from June 2013 to November 2018 from 3 hospitals in West China. Detailed demographics, clinical features, neurological status, related tests, managements, seizure and pregnancy outcomes were recorded and followed-up. Within them, patients with first seizure during pregnancy and spontaneous recurrent seizures after delivery or abortion were defined as new onset epilepsy during pregnancy.We screened a total of 1041 consecutive women with epilepsy and reproductive history. Twenty-two of them (2.1%) had new onset epilepsy during pregnancy. The average age at seizure onset was 22.7 ± 3.0 years. All their first seizures occurred in pregnancy period, including 4 (18.2%) in the first trimester, ten (45.4%) in the second trimester and eight (36.4%) in the third trimester. Most patients delivered healthy babies, except one patient had to choose induced abortion because of the disappearance of fetal heart rate, one child was diagnosed with mild harelip and one was diagnosed with trisomy 21 syndrome, tetralogy of Fallot and congenital duodenal atresia. All 3 complications happened in patients with their first seizures in first trimester.Although the risk of new onset epilepsy during pregnancy was relatively low, accurate diagnosis and appropriate treatment were required to reduce the damage to both mothers and fetuses. New onset epilepsy during pregnancy mostly began in middle and late pregnancy. However, seizures occurred from early pregnancy had bad effects on the embryo or fetus.


Asunto(s)
Epilepsia/epidemiología , Complicaciones del Embarazo/epidemiología , Resultado del Embarazo/epidemiología , Adulto , Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Embarazo , Adulto Joven
11.
Medicine (Baltimore) ; 98(27): e16257, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31277145

RESUMEN

RATIONALE: Benign epilepsy with centrotemporal spikes (BECTS) is one of the most common forms of childhood epilepsy, which is expected to resolve before 16 years of age, with mild effects on the cognitive or behavioral functions in adulthood. This study aims to report the first propofol-induced refractory status epilepticus (SE) in patients with BECTS after 16 years of age, and to review SE in BECTS or induced by propofol. PATIENT CONCERN: A 16-year-old Chinese girl, who was diagnosed with BECTS at the age of 2 years, developed refractory SE induced by propofol administered during the maintenance stage of general anesthesia during a plastic surgery procedure. DIAGNOSES: Considering her medical history, EEG, and magnetic resonance images, and brain computed tomography, a diagnosis of refractory SE in BECTS was confirmed. INTERVENTIONS: The patient had been seizure-free for 3 years from treatment with 2 anti-epileptic drugs (AEDs) valproate acid (VPA) and oxcarbazepine (OXC), and had started monotherapy with OXC for 3 months before the seizure incidence. She had undergone blepharoplasty under local anesthesia prior to receiving general anesthesia. During the maintenance state she developed convulsive SE, which was uncontrolled seizure and lasted for 14 hours. The treatment for which included midazolam, diazepam, propofol, VPA, OXC, and levetiracetam (LEV). OUTCOMES: The prolonged seizure was controlled by diazepam (4 mg/h), propofol (6 mg/kg/h), VPA (2400 mg/d intravenous injection). Subsequently, she was administered VPA (800 mg/d po), OXC (600 mg/d po), and LEV (1000 mg/d po). Finally, on the 17th day she was discharged, and did not have any seizure recurrence and EEG results were normal as noted during the 3-month follow-up. LESSONS: This was the first report of an SE in BECTS patient past the remission age. This report implied that interventions of sedation or analgesia in a patient after remission age of BECTS might still be at risk of refractory SE and therefore, should be carefully evaluated and monitored during such procedures, especially when an AED medication has been withdrawn or altered.


Asunto(s)
Epilepsia Rolándica/fisiopatología , Propofol/efectos adversos , Estado Epiléptico/inducido químicamente , Adolescente , Electroencefalografía , Femenino , Humanos , Hipnóticos y Sedantes/efectos adversos , Hipnóticos y Sedantes/uso terapéutico , Imagen por Resonancia Magnética , Propofol/uso terapéutico , Estado Epiléptico/diagnóstico , Tomografía Computarizada por Rayos X
12.
Epilepsy Res ; 154: 144-148, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31151074

RESUMEN

OBJECTIVES: Valproate (VPA) is one of the most frequently used anti-epileptic drugs (AEDs) worldwide. Its effects in decreasing the retinal nerve fibre layer (RNFL) thickness remain debatable. We aimed to evaluate the effect of VPA usage on the RNFL in comparison with other AEDs and no AED usage in people with epilepsy (PWE). METHODS: In this observational case-control study, PWE were enrolled and divided into three groups: PWE 1) receiving VPA monotherapy throughout their clinical course; 2) receiving an AED other than VPA as monotherapy; and 3) who never took any AED. RNFL thickness of the right eye was measured by optical coherence tomography (OCT). In each individual, disease-related information was recorded. RESULTS: A total of 86 individuals (51 males; median age, 25 years) with an average epilepsy duration of 6.88 years were enrolled. No difference in the demographics except for sex was noted between the groups. The average RNFL thickness in 26 individuals who had received VPA (group I) was 93.73 ±â€¯9.24 µm, which was significantly lower than the corresponding values for the 31 individuals who received other single AED regimens (group II; 99.71 ±â€¯8.50 µm; p = 0.031) or the 29 individuals who never used any AED (group III; 102.79 ±â€¯8.05 µm; p = 5.67 × 10-4), especially in the superior and inferior quadrants. The RNFL attenuation was significantly correlated with the epilepsy duration in groups II and III (r = 0.351, p = 0.006). However, no correlation between epilepsy duration, cumulative dosage of VPA, duration of treatment with VPA and RNFL thickness was found in group Ⅰ. CONCLUSION: These preliminary findings suggest an association between VPA usage and reduction of retinal thickness in PWE, especially in the superior and inferior quadrants. Epilepsy itself might also be another risk factor for RNFL attenuation. Further studies need to confirm this finding and to unravel the underlying mechanism.


Asunto(s)
Epilepsia/diagnóstico por imagen , Epilepsia/tratamiento farmacológico , Fibras Nerviosas/efectos de los fármacos , Neuronas Retinianas/efectos de los fármacos , Tomografía de Coherencia Óptica/métodos , Ácido Valproico/efectos adversos , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Fibras Nerviosas/patología , Neuronas Retinianas/patología , Adulto Joven
13.
Seizure ; 66: 70-75, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30807902

RESUMEN

PURPOSE: Tremor is frequently observed in patients with epilepsy (PWE), which is generally attributed to the side-effect of antiepileptic drugs (AEDs) particularly valproate (VPA) with largely unknown mechanisms. The study aimed to assess the clinical features and related factors of tremor in PWE with tremor. METHODS: PWE with tremor and a control group of age- and sex-matched PWE without tremor were enrolled. Detailed demographic and clinical information for each individual was recorded. PWE with tremor were evaluated by The Clinical Rating Scale for Tremor (CRST) and Tremor Related Activities of Daily Living (TRADL) questionnaire. RESULTS: 132 individuals were enrolled, which including sixty-six (36 males) PWE with tremor with mean age of 33 years and epilepsy duration of 12.5 years. Tremor was postural in all, with median duration of four and one year from diagnosis and AED treatment to the onset of tremor respectively. The upper limbs were predominantly affected. VPA had been used in 62 (93.9%) PWE with tremor compared to 31 (47.0%) PWE without tremor (P < 0.001). The total CRST score was significantly associated with epilepsy duration and maximum VPA dosage (B = 0.30, p < 0.001; B = 0.32, p = 0.013). Patients with VPA dosage over 17.05 mg/kg/d might be more vulnerable to develop tremor. CONCLUSIONS: PWE with tremor were more frequently treated with VPA, however, tremor was mild in most without any functional impairment. Epilepsy duration and maximum VPA dosage were important factors of tremor severity, suggesting mechanisms underlying tremor in PWE may be an elaborate interplay of AEDs and disease itself.


Asunto(s)
Anticonvulsivantes/efectos adversos , Epilepsia/complicaciones , Temblor/etiología , Actividades Cotidianas , Adulto , Anticonvulsivantes/uso terapéutico , Estudios de Casos y Controles , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos/etiología , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Temblor/psicología , Extremidad Superior/fisiopatología , Ácido Valproico/efectos adversos , Adulto Joven
14.
Acta Neurol Scand ; 139(3): 247-253, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30427063

RESUMEN

OBJECTIVES: GATOR1 (Gap Activity TOward Rags 1) is composed of three different subunits, DEPDC5 (DEP domain-containing protein 5), NPRL2 (nitrogen permease regulator-like 2) and NPRL3 (nitrogen permease regulator-like 3), and variants in these three genes have mostly been reported in familial focal epilepsy. However, very few studies have been carried out on sporadic drug-resistant focal epilepsy patients. In this study, we aimed to identify the frequency of variants in DEPDC5, NPRL2 and NPRL3 in patients with sporadic drug-resistant focal epilepsy. MATERIALS & METHODS: One hundred and ninety-three Chinese people with sporadic drug-resistant focal epilepsy were enrolled in the study. Targeted sequencing of DEPDC5, NPRL2 and NPRL3 was applied at an average coverage depth of 2500×. RESULTS: In the 193 patients with sporadic focal epilepsy included in this study, the median age was 24.6 years with a median age at onset of 13.99 years, and 130 of these patients had identifiable structural lesions. One possibly pathogenic missense variant of DEPDC5, c.2984G>A, p.Arg995His, was found in one patient (0.52%) with hippocampal sclerosis, and one variant of unknown significance, DEPDC5 c.20A>G, p.Tyr7Cys, was found in two patients with hippocampal sclerosis (1.04%). CONCLUSIONS: Our findings suggested that DEPDC5 might be of more importance than NPRL2 or NPRL3 in Chinese epilepsy patients with sporadic drug-resistant focal epilepsy. Future research should focus on the mechanism by which the mechanistic target of rapamycin (mTOR) is involved in epileptogenesis in sporadic epilepsy.


Asunto(s)
Epilepsia Refractaria/genética , Proteínas Activadoras de GTPasa/genética , Proteínas Represoras/genética , Proteínas Supresoras de Tumor/genética , Adolescente , Adulto , Pueblo Asiatico/genética , Femenino , Variación Genética , Humanos , Masculino , Mutación , Adulto Joven
15.
Epileptic Disord ; 20(4): 257-264, 2018 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-30078773

RESUMEN

To compare between the 1981 and 2017 International League Against Epilepsy (ILAE) classification of seizure types based on an outpatient setting. We retrospectively reviewed 200 patients from our outpatient epilepsy registry. Based on clinical information, their seizure types were classified according to ILAE official reports, and differences between the 1981 and 2017 classifications were compared. All unclassifiable cases based on either one or both classification systems were discussed. The 200 patients had a total of 243 manifestations. Some terms in the 2017 classification clearly correspond to those of the 1981 classification, while others lack clarity and are more controversial. The three most frequently encountered seizure types based on the 2017 classification were focal to bilateral tonic-clonic (83; 34.1%), unknown-onset tonic-clonic (56; 23.0%), and focal impaired awareness (52; 21.4%). Based on the 1981 classification, the three most frequently encountered seizure types were unclassified (89; 36.6%), secondary generalized tonic-clonic (sGTCS) (83; 34.1%), and complex partial (CPS) (36; 14.8%). Seventy-five of 89 (84.3%) unclassified cases based on the 1981 classification were classified using the 2017 classification mainly due to the addition of the "unknown origin" category and a combination of different levels of terms (level of awareness and motor/non-motor features). In 14 cases, seizures were unclassifiable using both classification systems; eight were rare manifestations with unclear awareness or unusual bilateral movements and six were due to a lack of detailed description. The 2017 seizure classification greatly reduces the number of unclassifiable cases. The combination of awareness level and motor/non-motor features introduces greater flexibility and allows for detailed seizure description. Several cases, however, remain unclassified, but these are mostly due to a lack of understanding of epilepsy. The 2017 seizure classification demonstrates a steady transition from the 1981 classification with acceptable consistency and improvements.


Asunto(s)
Epilepsia , Sistema de Registros/estadística & datos numéricos , Convulsiones , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , China/epidemiología , Epilepsia/clasificación , Epilepsia/epidemiología , Epilepsia/fisiopatología , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Organizaciones , Estudios Retrospectivos , Convulsiones/clasificación , Convulsiones/epidemiología , Convulsiones/fisiopatología , Adulto Joven
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