BackgroundMutations in the SPAST gene cause autosomal dominant hereditary spastic paraplegia (HSP) type 4 (SPG4), which is the most common type of HSP with variable frequencies in different ethnic backgrounds. The clinical and genetic characteristics of SPG4 in Central China have not been well documented.MethodsWe screened for SPAST variants by whole exome sequencing in a cohort of 63 unrelated families with HSP from Central China. The clinical manifestations were evaluated.Results21 variants of SPAST were identified in 21 index patients with a frequency of 33.3% (21/63). Seven novel variants were identified, including one missense variant (p.S399W), five frameshift variants (p.Q170Vfs*2, p.S527Vfs*3, p.I605Vfs*17, p.I605Nfs*26, and p.V443Afs*2), and one splicing variant (c.871-1G>A). We also detected four previously reported exon deletions of SPAST. The mean age of disease onset was 34.0 years. Anticipation and variability of disease severity were observed in some autosomal dominant families. Two patients exhibited a complicated phenotype, one of whom presented with hyposmia, which had never been previously reported with SPG4.ConclusionSPG4 is the most common type of HSP in our cohort. Complicated phenotype, although rare, can also be observed in SPG4 patients. The hyposmia might be a new phenotype associated with SPG4. The SPAST rearrangement is common and should be considered during genetic analysis. The novel SPAST variants identified in this study expand the mutational spectrum.

This study investigates the impact of continuous nursing based on a network model on breast cancer care and its effects on the mental well-being and quality of life of postoperative patients. Seventy breast cancer patients were randomly divided into two groups: the conventional care group (received standard care after breast cancer surgery) and the observation group (received continuous nursing based on the network model in addition to standard care). Their mental status, quality of life, nursing satisfaction, compliance and postoperative complications were assessed before enrollment and six months after intervention. The results showed that after six months of intervention, the observation group had significantly lower scores on the Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS) compared to the conventional care group. Furthermore, the observation group had significant improvements in five quality of life domains-physiological status, social/familial circumstances, emotional wellbeing, functional capacity and additional concerns-compared to the conventional care group. Nursing satisfaction (91.43% vs. 68.57%) and treatment compliance (97.14% vs. 85.71%) were also substantially higher in the observation group, while the incidence of postoperative adverse reactions was significantly lower (22.86% vs. 48.57%), indicating statistical significance compared to the conventional care group (p < 0.05). In conclusion, the network-based continuous nursing model could be a safe and effective approach to effectively enhance the mental well-being and quality of life of postoperative breast cancer patients while also improving nursing satisfaction and treatment compliance and reducing the occurrence of postoperative adverse reactions.

The aim of this study was to evaluate the efficacy of implementing the CICARE communication model and hierarchical responsibility nursing coordination in managing chronic heart failure among elderly patients. From June 2021 to June 2023, 120 elderly patients diagnosed with chronic heart failure were admitted to our hospital. They were divided into 2 groups according to different treatment methods: the regular group and the observation group. Both groups of patients received nursing interventions for 3 months. Before and after the intervention, we assessed the levels of cardiac function indicators (left ventricular end-diastolic diameter, left ventricular ejection fraction, and B-type natriuretic peptide levels) and exercise tolerance (6-minute walk test) in both groups of patients. The time to clinical symptom relief, self-efficacy, and quality of life scores were compared between the 2 groups of patients. Before the intervention, there were no significant differences in cardiac function indicators between the 2 groups (P > .05). However, after the intervention, both groups exhibited improvements in left ventricular end-diastolic diameter and B-type natriuretic peptide levels, with the observation group demonstrating greater reductions compared to the control group. Furthermore, both groups showed increased left ventricular ejection fraction levels, with the observation group experiencing a significantly higher improvement. Although exercise tolerance did not differ significantly between the groups before the intervention, post-intervention analysis revealed a greater increase in 6-minute walk test distance in the observation group compared to the control group (P < .05). The time to relief of breathlessness and edema did not significantly differ between the groups (P > .05). Similarly, there were no significant differences in self-efficacy and quality of life scores between the groups before the intervention (P > .05); however, post-intervention analysis showed higher self-efficacy scores in the observation group. Application of the CICARE communication model and hierarchical responsibility nursing coordination in elderly patients with chronic heart failure can effectively improve the patients’ cardiac function levels and significantly enhance their exercise tolerance, self-efficacy, and quality of life.

Objective:To analyze the clinical, imaging and genetic characteristics of 2 pedigrees with hereditary spastic paraplegia type 7 (SPG7).Methods:The clinical data of the probands and related members of 2 families hospitalized in the Department of Neurology of Henan Provincial People′s Hospital from December 2018 to December 2021 were collected. The probands and all family members were subjected to cranial MRI imaging and genetic testing, and the clinical characteristics and genetic variation of SPG7 families were compared with those reported in the literature.Results:Four patients from the 2 families were observed with adult-onset age in this group. The main manifestations were wide-base ataxic gait in 4 cases, and spastic gait in 1 case during follow-up. Pyramidal tract involvement mainly in the lower limbs were found in all cases, and dysarthria in 3 cases. MRI of 3 patients showed varying degrees of cerebellar atrophy. Genetic testing revealed compound heterozygous or homozygous variants of the SPG7 gene in the 4 patients, of which c.2062C>T and c.2176C>T were novel mutations. At present, only 5 SPG7 families have been reported in China. Among the 12 patients in all groups, 12 cases of pyramidal tract involvement, 10 cases of cerebellar ataxia, 7 cases of dysarticulation, 3 cases of cognitive impairment, 11 cases of complex hereditary spastic paraplegia, 1 case of simple hereditary spastic paraplegia, and 9 cases of cerebellar atrophy were reported. Six novel mutations have been reported in 5 families. Conclusions:SPG7 family is rarely reported in China, mainly manifested as pyramidal tract involvement combined with cerebellar ataxia, accompanied by cerebellar atrophy. SPG7 mutation is confirmed by genetic detection, and there are many novel mutations in SPG7 family in China.

Objective:To investigate the muscle MRI features of the lower extremities and correlations between MRI fatty degeneration total scores and other clinical features in limb girdle muscular dystrophy type R1 (LGMDR1) patients.Methods:Clinical data of 8 patients with LGMDR1 diagnosed by genetic examination in Department of Neurology, He'nan Provincial People's Hospital&People's Hospital of Zhengzhou University from May 2016 to November 2021 were retrospectively analyzed. Disease severity was evaluated by Gardner-Medwin and Walton (GM-W) scale. Pathological staining results of the lower limb muscles were observed; the fatty infiltration and edema of the muscles were observed by MRI T1WI and short-tau inversion recovery (STIR) sequences. Lower limb muscles were scored using Mercuri's scale. Spearman rank correlation was used to analyze the correlations of MRI fatty degeneration total scores of the lower extremities with age, age of onset, disease duration, GM-W scale scores and creatinine kinase (CK) level.Results:Of the 8 patients with LGMDR1, 7 had decreased muscle strength in the proximal lower extremity, including 4 with decreased muscle strength in the distal lower extremity at the same time. Muscular dystrophy-like pathological changes of skeletal muscles were noted. All 8 LGMDR1 patients showed different degrees of fatty infiltration in the lower extremities: at the thigh level, the adductor magnus, biceps femoris long head, semimembranes, semitendinosus and adductor longus were the most severely fatty degeneration muscles (mean scores>4), with relatively sparing of the sartorius and rectus femoris; regarding the calves, gastrocnemius medial head was the mostly involved, followed by soleus, with relative sparing of the tibialis posterior and anterior compartment. Edema-like changes (mild) were observed in 7 patients; the muscles that most frequently and relatively severely displayed edema-like changes were the gastrocnemius lateral head and quadriceps. The fatty degeneration total scores of the lower extremities were positively correlated with GM-W scale scores ( r=0.872, P=0.005) and negatively correlated with CK level ( r=-0.929, P=0.001), but not significantly correlated with age, age of onset or disease duration ( r=0.635, P=0.091; r=0.571, P=0.139; r=0.551, P=0.157). Conclusion:The lower limb muscles with severe fatty infiltration are less prone to show edema-like changes; fatty degeneration can be used to evaluate LGMDR1 progress; involvement pattern of muscle MRI of the lower extremities is helpful in diagnosing and differentially diagnosing LGMDR1.

Objective:To investigate the clinical and genetic features of Pompe disease, and analyze the effect of enzyme replacement therapy on it.Methods:A retrospective study was performed. The clinical data and genetic results of 14 patients with Pompe disease from 12 families, admitted to our hospital from January 2017 to June 2021, were collected. Some patients were followed up after therapies.Results:Twelve of the 14 patients were late onset, with onset age ranged from 1.5 to 37.0 years (mean 15.2 years), and the other 2 patients were infantile onset. The predominant manifestations included proximal lower limb weakness, accompanied by easy fatigue and myalgia; 8 patients presented with dyspnea, of which one had dyspnea as initial presentation. Serum creatine kinase ranged from 172 to 1397 IU/L (mean 878 IU/L). Electromyography revealed myogenic pattern in 6 patients and myotonic discharge in 4 patients. Forced vital capacity decreased in 10 patients, and scoliosis was detected in 5 patients; 13 patients had decreased acid-alpha-glucosidase (GAA) activity; muscle pathology indicated vacuolar myopathy in 8 patients. Genetic test revealed 17 variants in GAA gene, among which c.2331G>C, c.1622C>T, c.1585T>C, and c.1837T>C were 4 novel likely pathogenic variants. The c.2238G>C and c.2662G>T were found in 5 and 3 families, respectively. Muscle strength and lung function got improvement in 1 patient who received enzyme replacement therapy and had regular follow-up, while muscle strength and lung function were worsened in those who did not receive enzyme replacement therapy. Conclusions:Pompe disease is characterized by skeletal muscle weakness and pulmonary dysfunction, and may be associated with spinal deformity; creatine kinase is mildly to moderately elevated, and myotonic discharge can be detected. GAA c.2238G>C and c.2662G>T are hotspot mutations in China; the 4 novel variants enrich the GAA mutational spectrum. Enzyme replacement therapy may improve motor and pulmonary function.

OBJECTIVE:To explore phenotypic and mutational characteristics of a pedigree with distal hereditary motor neuropathy (dHMN).METHODS:Clinical data of the proband and her family members was collected. Electrophysiology, muscle biopsy and whole exome sequencing were carried out for the proband.RESULTS:Patients of the family mainly presented with distal lower limb weakness. Electrophysiological test of the proband revealed distal motor neuropathy and sensory nerves were normal. Muscle biopsy suggested neurogenic atrophy of muscle fibers. Genetic analysis revealed a heterozygous c.421A>G (p.K141E) mutation in exon 2 of the HSPB8 gene, which was a hot spot mutation.CONCLUSION:This family was the first reported HSPB8 related dHMN2A in Chinese population, and p.K141E was the causative mutation, which enriched the mutational spectrum of dHMN in China.

Objective:To improve the clinician′s recognition of the clinical and molecular characteristics of primary familial brain calcification (PFBC).Methods:The detailed clinical information, imaging and molecular characteristics were analyzed in proband and family members of a genetically confirmed autosomal recessive PFBC family. The clinical and imaging features of junctional adhesion molecule 2 (JAM2) gene related PFBC were analyzed in combination with the literature review.Results:The proband was a 32-year-old man, with slurred speech and paroxysmal limb twitch as the first symptoms, accompanied by cognitive dysfunction, and rigidity in the limbs, with epilepsy in the past. Brain CT showed extensive, symmetrical, and bilateral calcification involving the cerebellum, basal ganglia, thalamus, subcortex and cortex. Other family members showed no related clinical symptoms. Brain CT of the parents of the proband showed no calcification. Gene testing of the proband revealed a homozygous c.685C>T(p.R229*) mutation in JAM2 gene, which has been reported as a pathogenic variation abroad, whereas has not been reported in China. The proband′s parents and children were found with heterozygous c.685C>T (p.R229*) mutation.Conclusions:Autosomal recessive inherited PFBC is a rare disease, and JAM2 mutation is a newly discovered pathogenic gene of PFBC in 2020. Patients with intracranial calcification should be alert of JAM2 gene mutation.

目的 通过研究护士职业价值观、工作满意度与工作绩效现状，采用结构方程模型探讨探索护士职业价值观、工作满意度对工作绩效的作用机制。为护理管理者更好的提高护士的工作绩效提供理论依据。方法 采用横断面现况研究的方法，以方便抽样的方法，抽取陕西省两所三级医院、两所二级医院及三所一级医院的符合纳入及排除标准的1096名在职护士作为研究对象。采用一般资料调查表、护士职业价值观量表、工作满意度量表、护理行为六维度量表收集资料。结构方程探索护士工作满意度在其职业价值观和工作绩效的中介效应。结果 工作绩效总分为（141.47±25.61），条目均分为（2.72±0.70），6个维度条目均分由高到低分别为专业发展（2.81±0.69）、人际/沟通（2.78±0.67）、重症监护（2.71±0.73）、计划/评估（2.70±0.70）、教学/合作（2.65±0.71）、领导能力（2.65±0.71）。工作绩效各维度在性别、教育水平、婚姻、职称、有无带教、隶属关系、医院级别、月收入、每月夜班数、科室方面的得分差异具有统计学意义（P<0.05）。结构方程模型显示直接路径职业价值观对工作绩效有直接预测效果，职业价值观通过工作满意度间接正向预测工作绩效。结论 护理管理者应关注和提高护士职业价值观水平，从而提高护士对工作满意程度，提高护士的工作绩效。

目的 观察药物结合有氧运动治疗对冠心病病人经皮冠状动脉介入(PCI)术后运动能力、康复效果的影响.方法 将2017年10月—2018年10月我院收治的冠心病PCI术后病人102例采用随机数表法分为研究组与对照组,对照组给予常规西药规范化治疗,研究组在对照组基础上结合有氧运动治疗.观察比较两组治疗前后血清肌钙蛋白I(cTnI)、肌酸激酶同工酶(CK-MB)、左室射血分数(LVEF)、纽约心脏病协会(NYHA)心功能分级、最大呼气流量(PEF)、1秒用力呼气量预计值(FEV1％)、最大肺活量(FVC)及6 min步行距离(6MWD)、峰值摄氧量(VO2 peak)、无氧阈值(AT),同时记录随访期间两组主要心血管不良事件(MACE)发生情况.结果 治疗后,两组血清cTnI、CK-MB水平较治疗前均下降,PEF、FEV1％、FVC均高于治疗前,研究组LVEF、6MWD、VO2 peak、AT均高于治疗前,NYHA分级低于治疗前,对照组6MWD长于治疗前,且研究组优于对照组,差异均有统计学意义(P<0.05).随访期间,研究组MACE发生率低于对照组,差异有统计学意义(7.84％与23.53％,P=0.029).结论 药物结合有氧运动治疗能减轻冠心病病人PCI术后心肌损伤,改善心肺功能,提高运动耐力,康复效果更佳,并能降低术后并发症.

目的 探讨外周血单个核细胞(PBMCs)中环状RNA circTCF25在肺源性心脏病(CP)患者诊断及预后评估中的应用价值.方法 选取2016年11月—2018年11月西安市第九医院收治的CP患者52例(CP组),另选取同期性别、年龄匹配的健康体检者30例(对照组)作为研究对象,采用实时荧光定量聚合酶链反应检测两组PBMCs中circTCF25表达水平;采用Pearson相关法对CP组circTCF25水平与动脉血氧分压(PaO2)、脑钠肽(BNP)进行相关性分析;应用受试者操作特征(ROC)曲线评价circTCF25在CP诊断和预后评估中的应用价值.结果 CP组PaO2水平显著低于对照组(P<0.05),BNP水平显著低于对照组(P<0.05);CP组PMBCs中circTCF25水平显著高于对照组(P<0.05);Pearson相关分析结果显示circTCF25表达水平与PaO2呈显著负相关(r=0.633,P<0.05),与BNP水平呈显著正相关(r=0.528,P<0.05);ROC曲线分析结果显示,circTCF25诊断CP的最佳截值为1.37,ROC曲线下面积(AUC)为0.834(95％CI 0.734～0.908);circTCF25预测CP患者预后不良的最佳截值为1.74,预测的AUC为0.722(95％CI 0.636～0.798).结论 PBMCs中circTCF25表达水平在CP患者明显上调,其对CP诊断和预后评估具有较好的应用价值.

MRI is the most clear and accurate imaging technique for detecting muscle involvement. In recent years, MRI has been widely used in diagnosis and follow⁃up of muscle disorders. A variety of muscle disorders have specific selective muscle involvement patterns. There is accumulating evidence that patterns of involved muscles shown by muscle MRI can help delineate the possible diagnoses. The aim of this paper is to state MRI manifestations of hereditary myopathies, so as to improve neurologist's understanding of muscle MRI and promote application of muscle MRI in diagnosis of hereditary myopathies.

目的 探讨3例先天性肌强直(myotonia congenita,MC)患者的临床特点和基因突变情况.方法 回顾性分析河南省人民医院神经内科2016年1月至2018年11月收治的无亲缘关系的3例MC患者的临床和病理资料,并进行基因检测.结果 3例患者均幼年或少年早期起病,其中例1和例2的首发症状均为下肢肌强直、之后波及或不波及上肢、均出现于运动起始时,例3的首发症状为上肢强直,之后波及口轮匝肌、眼肌及下肢肌,除运动起始时出现强直外、久跑时也出现强直;3例患者症状均于反复活动后缓解,其中2例于寒冷时加重、另1例于劳累或紧张时加重.3例患者的CK均正常,肌电图均显示有强直电位,其中2例查下肢肌肉核磁无异常、另1例未查肌肉核磁.3例患者中2例的肌肉病理示轻微肌源性病理改变,另1例病理无异常.基因检测示3例患者均发现氯离子通道蛋白-1(chloride channel 1,CLCN1)基因突变,例1为p.W303R单杂合突变,例2为p.C254W单杂合突变,例3为p.R626?和p.M470V复合杂合突变.结论 运动起始时出现肌强直、反复活动后缓解为MC的特征性临床表现.p.C254W和p.M470V为我们新发现的错义突变.