Advance of research on Hereditary spastic paraplegia type 4 / 中华医学遗传学杂志

Spastic paraplegia type 4 (SPG4) is the most common type of autosomally inherited spastic paraplegia. Its main clinical features include typical simple hereditary spastic paraplegia, with neurological impairments limited to lower limb spasticity, hypertonic bladder dysfunction, and mild weakening of lower limb vibration sensation, without accompanying features such as nerve atrophy, ataxia, cognitive impairment, seizures, and muscle tone disorders. SPAST is the main pathogenic gene underlying SPG4, and various pathogenic SPAST variants have been discovered. This disease has featured a high degree of clinical heterogeneity, and the same pathogenic variant can have different age of onset and severity among different patients and even within the same family. There is a lack of systematic research on the correlation between the genotype and phenotype of SPG4, and the pathogenic mechanism has remained controversial. This article has provided a review for the clinical characteristics, pathogenic gene characteristics, correlation between the genotype and phenotype, and pathogenic mechanism of this disease, with an aim to provide reference for its clinical diagnosis and treatment.

Experiência de pacientes com lesão medular em reabilitação: um estudo misto acerca dos cuidados de enfermagem / Experience of patients with spindle injury in rehabilitation: a mixed study about nursing care

: A obtenção da satisfação do paciente é uma das ferramentas de investigação de indicadores de qualidade, sendo fonte de informação relevantes para o desenvolvimento de melhorias na qualidade da assistência. Objetivo: O estudo teve por intuito compreender a visão e a satisfação de pacientes com lesão medular internados em um centro de referência em reabilitação, quanto aos cuidados de enfermagem, de forma a evidenciar o papel do profissional enfermeiro na adesão durante o processo de reabilitação e readaptação. Metodologia: Trata-se de uma pesquisa de campo de caráter misto com abordagem exploratória observacional, realizada em um centro de reabilitação, com 22 participantes, sendo que 21 destes corresponderam à pesquisa qualitativa. Para a coleta de dados, foram aplicados o Instrumento de Satisfação do Paciente (ISP) e um questionário com 4 questões norteadoras. Resultados: A satisfação dos participantes em relação aos cuidados de enfermagem foi positiva nos três domínios, sendo o domínio educacional o mais bem avaliado (4,39), seguido da área técnica profissional (4,06) e por último confiança (4,04). Os resultados qualitativos foram divididos em duas categorias "Relação enfermeiro-paciente" e "A percepção do cuidado". Conclusão:Tornou-se claro o papel do enfermeiro na adesão à reabilitação, sendo possível constatar a relação da satisfação com os aspectos de humanização em saúde

Obtaining patient satisfaction is one of the research tools for quality indicators, being a source of relevant information for the development of improvements in the quality of care. Objective: The study aimed to understand the vision and satisfaction of patients with spinal cord injury hospitalized in a Rehabilitation Reference Center, regarding nursing care, in order to highlight the role of nurses in adherence during the rehabilitation and readaptation process. Methodology: This is a mixed field research with an exploratory observational approach, carried out in a Rehabilitation Center, with 22 participants, 21 of which corresponded to qualitative research. For data collection, the Patient Satisfaction Instrument (PSI) and a questionnaire with 4 guiding questions were applied. Results: The classification of participants in relation to nursing care was positive in the three domains, with the educational domain being the best evaluated (4.39), followed by the technical-professional area (4.06) and finally trust (4.04). Qualitative results were divided into two categories "Nurse-patient relationship" and "Perception of care". Conclusion: In addition, the role of nurses in adherence to rehabilitation became clear, and it was possible to verify the relationship between satisfaction and aspects of humanization in health

Prevalence and risk factors of deep venous thrombosis of lower extremity in patients with stage Ⅲ and Ⅳ pressure ulcers on admission / 中华烧伤杂志

Objective: To investigate the incidence and risk factors of deep venous thrombosis (DVT) of lower extremity in patients with stage Ⅲ and Ⅳ pressure ulcer on admission. Methods: A retrospective case series study was conducted. A total of 241 patients with stage Ⅲ and Ⅳ pressure ulcers who met the inclusion criteria and were discharged from the Department of Wound Repair of the First People's Hospital of Zhengzhou from January 1, 2015 to December 31, 2019 were enrolled in this study, including 134 males and 107 females, aged 22 to 93 years, with a median age of 68 years; 37 patients were with stage Ⅲ pressure ulcers and 204 patients were with stage Ⅳ pressure ulcers. The DVT occurrence of patients was recorded. According to whether DVT of lower extremity veins was diagnosed by color Doppler ultrasound within 48 h after admission or not, the patients were divided into DVT group (n=37) and non-DVT group (n=204). Data of patients in the two groups were collected and compared, including gender, age, duration of pressure ulcer, time in bed, and combination with diabetes, hypertension, coronary heart disease, cerebral infarction, pneumonia, sepsis/septic shock, and paraplegia, and the plasma D-dimer level and Caprini score within 24 h after admission. Data were statistically analyzed with independent sample t test, Mann-Whitney U test, chi-square test, and Fisher's exact probability test. The indicators with statistically significant differences between the two groups were analyzed with multivariate logistic regression analysis to screen the independent risk factors influencing the DVT of lower extremity in 241 patients with stage Ⅲ and Ⅳ pressure ulcers on admission. Results: The incidence of DVT of lower extremity was 15.4% (37/241), of which 86.5% (32/37) were asymptomatic DVT. Among the DVT of 46 lower limbs, only 29 involved the inferior genicular veins, accounting for 63.0%. There were no statistically significant differences in gender, duration of pressure ulcer, combination with diabetes, hypertension, coronary heart disease, cerebral infarction, pneumonia, and sepsis/septic shock of patients between the two groups (P>0.05), while there were statistically significant differences in age, time in bed, combination with paraplegia, the plasma D-dimer level and Caprini score of patients between the two groups(t=-3.19, Z=-2.04, χ2=4.44, Z=-3.89, t=-2.14, respectively, P<0.05 or P<0.01). Multivariate logistic regression analysis showed that age and plasma D-dimer level were independent risk factors influencing the DVT of lower extremity in 241 patients with stage Ⅲ and Ⅳ pressure ulcers on admission (with odds ratios of 1.03 and 1.18, respectively, with 95% confidence intervals of 1.00-1.06 and 1.05-1.33, respectively, P<0.05 or P<0.01). Conclusions: The patients with stage Ⅲ and Ⅳ pressure ulcers have a higher incidence of DVT on admission, with age and plasma D-dimer level being the independent risk factors for DVT of lower extremity. It is necessary to pay attention to the targeted screening of DVT and education of its prevention.

Protocol paper: kainic acid excitotoxicity-induced spinal cord injury paraplegia in Sprague-Dawley rats

BACKGROUND: Excitotoxicity-induced in vivo injury models are vital to reflect the pathophysiological features of acute spinal cord injury (SCI) in humans. The duration and concentration of chemical treatment controls the extent of neuronal cell damage. The extent of injury is explained in relation to locomotor and behavioural activity. Several SCI in vivo methods have been reported and studied extensively, particularly contusion, compression, and transection models. These models depict similar pathophysiology to that in humans but are extremely expensive (contusion) and require expertise (compression). Chemical excitotoxicity-induced SCI models are simple and easy while producing similar clinical manifestations. The kainic acid (KA) excitotoxicity model is a convenient, low-cost, and highly reproducible animal model of SCI in the laboratory. The basic impactor approximately cost between 10,000 and 20,000 USD, while the kainic acid only cost between 300 and 500 USD, which is quite cheap as compared to traditional SCI method. METHODS: In this study, 0.05 mM KA was administered at dose of 10 µL/100 g body weight, at a rate of 10 µL/min, to induce spinal injury by intra-spinal injection between the T12 and T13 thoracic vertebrae. In this protocol, detailed description of a dorsal laminectomy was explained to expose the spinal cord, following intra-spinal kainic acid administration at desired location. The dose, rate and technique to administer kainic acid were explained extensively to reflect a successful paraplegia and spinal cord injury in rats. The postoperative care and complication post injury of paraplegic laboratory animals were also explained, and necessary requirements to overcome these complications were also described to help researcher. RESULTS: This injury model produced impaired hind limb locomotor function with mild seizure. Hence this protocol will help researchers to induce spinal cord injury in laboratories at extremely low cost and also will help to determine the necessary supplies, methods for producing SCI in rats and treatments designed to mitigate post-injury impairment. CONCLUSIONS: Kainic acid intra-spinal injection at the concentration of 0.05 mM, and rate 10 µL/min, is an effective method create spinal injury in rats, however more potent concentrations of kainic acid need to be studied in order to create severe spinal injuries.

Cirugía convencional del aneurisma tóraco-abdominal / Open surgical treatment of thoracoabdominal aortic aneurysm. Experience in 45 patients

BACKGROUND: Thoracoabdominal aortic aneurysm (TAAA) is an infrequent disease and demands a highly specialized and experienced management. Open repair (OR) is the gold standard but it is associated with significant morbidity and mortality. Paraplegia and renal failure are the most important complications. AIM: To report our results with OR treatment of TAAA. MATERIAL AND METHODS: Descriptive study including all patients with TAAA operated electively and consecutively by OR between 1983 and 2019. Main outcomes are operative mortality, renal and neurological morbidity, and long-term survival. RESULTS: We report 45 operated patients aged 33 to 84 years, 74% males. Aneurysm extension according to Crawford classification was I in 18%, II in 18 %, III in 36% and IV in 29%. Operative mortality was 4%. The frequency of paraplegia or paraparesis at discharge was 9%. No patient was discharged on hemodialysis. Survival at 5 and 10 years were 60% and 40% respectively. CONCLUSIONS: OR of TAAA is a complex procedure. Our results show perioperative mortality rates comparable to highly experienced centers. Although being a major procedure, OR remains an alternative to treat this serious condition.

Vertebrectomia total e estabilização com pinos e polimetilmetacrilato como tratamento para luxação entre vértebras torácicas em cão ­ relato de caso / Total vertebrectomy and stabilization with pins and polymethylmethacrylate as treatment for thoracic vertebral luxation in a dog - case report

As lesões decorrentes de atropelamento são as principais causas de fraturas e luxações vertebrais, ocasionando graus variáveis de injúrias vertebrais e medulares. O presente trabalho tem como objetivo relatar a ocorrência de lesão traumática em coluna vertebral de cão sem raça definida, com quatro anos de idade, resultando em luxação T11-12, com exposição de T11 e secção medular, estando o paciente paraplégico, com sinais de lesão em neurônio motor superior e ausência de nocicepção profunda em membros pélvicos. O tratamento de escolha foi a vertebrectomia de T11, associada ao alinhamento de T10-12 com introdução de pinos e fixação com polimetilmetacrilato (PMMA) associado à ceftriaxona. Em decorrência de lesão na pleura parietal no trans-cirúrgico, optou-se pela toracostomia para introdução de tubo torácico, o qual permaneceu no paciente por quatro dias. No pós-operatório, o paciente apresentou recuperação satisfatória, sendo recomendado aos tutores a confecção de cadeira de rodas a fim de facilitar sua locomoção. A técnica mostrou-se satisfatória para minimizar as infecções passíveis de ocorrência em fraturas expostas, bem como melhorar a qualidade de vida do paciente, evitando-se dores crônicas.

Injuries resulting from being run over are the leading causes of vertebral fractures and dislocations, causing varying vertebral and spinal injuries. The present study aims to report the occurrence of traumatic injury to the spine of a mixed breed dog, aged four years, resulting in a T11-12 dislocation, with T11 exposure and spinal section, with the patient showing paraplegia, signs of an upper motor neuron lesion and absence of deep nociception in pelvic limbs. The treatment of choice was T11 vertebrectomy, associated with the alignment of T10-12 with the introduction of pins and fixation with polymethylmethacrylate (PMMA) associated with ceftriaxone. Due to a lesion in the parietal pleura during the surgery, thoracostomy was chosen to introduce a chest tube, which remained in the patient for four days. In the postoperative period, the patient presented a satisfactory recovery, and it was recommended that tutors make a wheelchair to facilitate their mobility. The technique proved to be satisfactory for minimizing infections that could occur in open fractures and improving the patient's quality of life, avoiding chronic pain.

Diseño de un bipedestador semiautomático reajustable para el desplazamiento de personas con paraplejia / Design of a semi-automatic adjustable standing frame for paraplegics

Introducción: La paraplejia es una condición de salud ocasionada por lesiones lumbares que conlleva a las personas a permanecer la mayor parte de su tiempo postradas, ocasionando problemas de respiración, variaciones en la presión arterial y la aparición de úlceras en sus partes de apoyo. Objetivo: Desarrollar un sistema mecatrónico que permita la bipedestación de personas con condición de paraplejias. Métodos: La investigación se realizó en dos etapas, el desarrollo de un sistema mecatrónico y una fase de validación de uso por usuarios con discapacidad motora. Resultados: Las pruebas de funcionamiento muestran que los atractivos más importantes del equipo son su capacidad de ajuste (permitiendo su uso a personas con diferencias antropométricas) y su operatividad. Conclusiones: El bipedestador diseñado cumplió las condiciones requeridas para realizar la transición a condición bípeda, con las medidas de seguridad en las partes críticas que garantizan la estabilidad del usuario. Además, el bipedestador posee mecanismos sencillos de operar, acorde con sus capacidades. La validación del implemento demostró que es de un tamaño adecuado y de fácil utilización, además al ser reajustable para su uso independientemente de la condición morfométrica.(AU)

Introduction: Paraplegia is an impairment in motor functioning of the lower extremities. Caused by lumbar lesions, it deprives its sufferers from their ability to move about, which results in breathing problems, arterial pressure variations and the appearance of ulcers in pressure areas. Objective: Develop a mechatronic system permitting the bipedal locomotion of paraplegics. Methods: The study was structured into two stages: development of a mechatronic system and validation of its use by people with motor disability. Results: Function tests show that the most attractive features of the device are its adjustability (allowing use by anthropometrically different people) and its operability. Conclusions: The standing frame designed met the conditions required for the transition to bipedal condition, with safety measures in its critical parts which ensure user stability. Additionally, its mechanisms are easy to operate, in keeping with its capabilities. Validation of the device showed that its size is appropriate, its operation simple, and it may be readjusted for use in different morphometric conditions(AU)

Validity of the Polar V800 heart rate monitor for assessing cardiac autonomic control in individuals with spinal cord injury

Abstract Aim: Spinal cord injury (SCI) is associated with changes in cardiac autonomic control, that can be evaluated by heart rate variability (HRV), for which the electrocardiogram (ECG) is the gold standard. However, the use of ECG is limited to laboratory environments, and new tools are needed for this purpose and that can be applied in the routine monitoring of individuals with SCI. The present study aimed to investigate the validity of the Polar V800 heart rate monitor in assessing the cardiac autonomic control of individuals with SCI. Methods: Nineteen adult men with SCI (paraplegia n = 10; 44.5 ± 8.5 years and tetraplegia n = 9; 34.4 ± 7.5 years) participated in this cross-sectional study. The participants remained in the sitting position at rest for 10 min for the acquisition of the ECG and Polar V800 signals. The last 5-min window was used to count the beat-by-beat R-R interval series and then calculate the HRV indices (linear methods in the time and frequency domains). The study subgroups were compared, and the validity of the measurements generated with a heart rate monitor was determined using the intraclass correlation coefficient (ICC2,1) and Bland-Altman graphs. Results: Agreement analyses for the R-R intervals, SDNN, rMSSD, PNN50, SD1, LF, HF, and LF: HF ratio tended to show reliability ranging from acceptable to excellent (ICC = 0.579-0.990; P = 0.043-0.001) and acceptably narrow limits of agreement within both the group with tetraplegia and the group with paraplegia. Conclusion: The Polar V800 heart rate monitor is a valid instrument for assessing HRV in individuals with paraplegia and tetraplegia.

Paraplejía compresiva de un año de evolución. ¿Es posible la recuperación mediante tratamiento quirúrgico? / Compressive paraplegia of one year of evolution. Is recovery possible by surgical treatment?

Introducción: La recuperación de la función motora luego de una lesión medular depende de varios factores como el nivel de la lesión, la extensión del daño, el tiempo de evolución y la edad del paciente. Mayormente la literatura hace referencia a la población adulta y poco existe publicado en pediatría. Objetivo: Reportar y enfatizar la utilidad de la cirugía en una paciente de 7 años con paraplejia por compresión tumoral de larga evolución con posterior recuperación neurológica. Presentación del caso: Paciente femenina de 7 años con paraplejía de larga evolución secundaria a una lesión neoplásica extradural torácica que presentó recuperación neurológica completa en el postoperatorio. Conclusión: Se reporta un caso clínico de una paciente con historia clínica de un año de paraplejia por compresión medular tumoral y recuperación completa luego de la remoción quirúrgica.

Introduction: The recovery of motor function after a spinal cord injury depends on several factors such as the level of the injury, the extent of the damage, the time of evolution and the age of the patient. Most of the literature refers to the adult population and there is little published in pediatrics. Objective: To report and emphasize the utility of surgery in a 7-year-old patient with long-standing tumor compression paraplegia with subsequent neurological recovery. Case presentation: 7-year-old female patient with long-standing paraplegia secondary to a thoracic extradural neoplastic lesion who presented complete neurological recovery in the postoperative period. Conclusion: A clinical case of a patient with a one-year medical history of paraplegia due to tumor spinal cord compression and complete recovery after surgical excision is reported.

Identification of the Artery of Adamkiewicz Using Multidetector Computed Tomography Angiography (MCTA) / Identificação da artéria de Adamkiewicz usando angiotomografia computadorizada por multidetectores (ATCM)

Abstract Objective The aim of the present study is to evaluate the artery of Adamkiewicz by multidetector computed tomography angiography (MCTA) in a Brazilian population. Methods Two independent observers evaluated 86 coronary MCTA examinations. The variables studied included the identification of the artery of Adamkiewicz at its origin level, and its entry side in the spine. Results The artery of Adamkiewicz was detected in 71 (82.5%) examinations. The origin level was identified between the 9th and 11th thoracic vertebrae (T9 and T11) in 56 (79.2%) patients. In 65 (91.5%) patients, the artery was on the left side. The identification of the artery of Adamkiewicz using MCTA showed high reproducibility. Conclusions Our results were consistent with the literature regarding the identification of the artery of Adamkiewicz using MCTA, suggesting that this technique should be considered as an option to recognize this structure. In addition, we found that the distribution of the artery of Adamkiewicz in the Brazilian population is similar to that of other populations, that is, its most common origin is at the left side, between the 8th and 12th thoracic vertebrae (T8-T12).

Resumo Objetivo Avaliar a artéria de Adamkiewicz por angiotomografia computadorizada por multidetectores (ATCM) em uma população brasileira. Métodos Dois observadores independentes avaliaram 86 exames de ACTM. As variáveis estudadas incluíram a identificação da artéria de Adamkiewicz no nível de origem e o lado de entrada da artéria na coluna vertebral. Resultados A artéria de Adamkiewicz foi identificada em 71 (82,5%) exames. O nível de origem foi identificado entre a 9a e a 11a vértebras torácicas (T9 e T11) em 56 (79,2%) pacientes. Em 65 (91,5%) pacientes, a artéria foi identificada no lado esquerdo. A identificação da artéria de Adamkiewicz usando ACTM mostrou elevada reprodutibilidade. Conclusões Obtivemos resultados consistentes com os da literatura prévia quanto à identificação da artéria de Adamkiewicz utilizando angiotomografia computadorizada por multidetectores. Nossos resultados sugerem que a ATCM pode ser considerada como uma opção para identificar a artéria de Adamkiewicz. Além disso, encontramos uma distribuição da artéria de Adamkiewicz na população brasileira semelhante à de outras populações, com a artéria de Adamkiewicz originando-se mais comumente no lado esquerdo, entre a 8a e a 12a vértebras torácicas (T8-T12).