Gait kinetics impact shoe tread wear rate

BackgroundAdequate footwear is an important factor for reducing the risk of slipping; as shoe outsoles wear down, friction decreases, and slip and fall risk increases. Wear theory suggests that gait kinetics may influence rate of tread wear.Research questionDo the kinetics of walking (i.e., the shoe-floor force interactions) affect wear rate?MethodsFourteen participants completed dry walking trials during which ground reaction forces were recorded across different types of shoes. The peak normal force, shear force, and required coefficient of friction (RCOF) were calculated. Participants then wore alternating pairs of shoes in the workplace each month for up to 24 months. A pedometer was used to track the distance each pair of shoes was worn and tread loss was measured. The wear rate was calculated as the volumetric tread loss divided by the distance walked in the shoes. Three, mixed linear regression models were used to assess the impact of peak normal force, shear force, and RCOF on wear rate.ResultsWear rate was positively associated with peak RCOF and with peak shear force, but was not significantly related to peak normal forces.SignificanceThe finding that shear forces and particularly the peak RCOF are related to wear suggests that a person’s gait characteristics can influence wear. Therefore, individual gait kinetics may be used to predict wear rate based on the fatigue failure shoe wear mechanism.     

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype

BackgroundAromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of reports, it has been recognized that most affected patients show severe developmental delay in a bedridden state and are unable to speak. On the other hand, patients with a mild phenotype with AADC deficiency have been reported, but they number only a few cases. Therefore, the variation of phenotypes of the disease appears to be broad, and it may be challenging to diagnose an atypical phenotype as AADC deficiency.Case reportWe report novel compound heterozygous variants in DDC (c.202G > A and c.254C > T) in two sisters, whose main complaint was mild developmental delay, by whole-exome sequencing (WES). Additionally, we describe their clinical features and provide an image that shows the variants located at different sites responsible for the catalysis of AADC in a three-dimensional structure. The patients were prescribed a Monoamine oxidase (MAO) inhibitor after diagnosis.InterpretationOur cases indicate that a comprehensive genomic approach helps to diagnose AADC deficiency with atypical features, and underscore the significance of understanding the variations of this disorder for diagnosis and appropriate treatment.     

Generalized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth

The initial clinical presentation of infantile myofibromatosis can vary from subtle skin changes to large tumors. Here, we describe a case of congenital generalized infantile myofibromatosis which presented with diffuse hypopigmented macules, some with subtle atrophy and telangiectasia. Further workup revealed visceral involvement which led to treatment with systemic chemotherapy. Awareness of this rare clinical presentation is crucial to expedite workup and treatment given the poor prognosis in infants with visceral involvement.     

New advances in Amyotrophic Lateral Sclerosis genetics: Towards gene therapy opportunities for familial and young cases

Due to novel gene therapy opportunities, genetic screening is no longer restricted to familial cases of ALS (FALS) cases but also aplies to the sporadic populations (SALS). Screening of four main genes (C9orf72, SOD1, TARDBP and FUS) identified the causes in 15% of Amyotrophic Lateral Sclerosis (ALS) patients (two third of the familial cases and 8% of the sporadic ones) but their respective contribution to ALS phenotype varies according the age of disease onset. The genetic overlap between ALS and other diseases is expanding and includes frontotemporal dementia, Paget's Disease of Bone, myopathy for adult cases, HSP and CMT for young cases highlighing the importance of retrieving the exhaustive familial history for each indivdual with ALS. Incomplete disease penetrance, diversity of the possible phenotypes, as well as the lack of confidence concerning the pathogenicity of most identified variants and/or possible oligogenic inheritance are burdens of ALS genetic counseling to be delivered to patients and at risk individuals. The multitude of rare ALS genetic causes identifed seems to converge to similar cellular pathways leading to inapropriate response to stress emphacising new potential therapeutic options for the disease.     

Lateral ventricular liponeurocytoma: Review of literature and case illustration

BackgroundLiponeurocytoma is an uncommon tumor of the central nervous system. It is very rare for this tumor to originate within the lateral ventricle. In the context of the rarity of this tumor entity, this review article aims to summarize the clinical, radiological, and pathological features of lateral ventricular liponeurocytoma to facilitate its diagnosis and management.MethodsHere, we conduct a systematic literature review using the Pubmed, Scopus, and Cochrane Library database for all cases of lateral ventricular liponeurocytoma. A case illustration complements this review.ResultsThe described cases from 1997 onward include 14 cases that have been published in full papers in the English literature. Six additional cases are reported in short English abstracts in full non-English papers, and one case was described in a central neurocytoma report. There is a definite male predominance of 70% (14 male) and a mean age of 37 years (range 24–62). Heterogenous enhancement and signals in magnetic resonant images (MRI) are the radiological characteristics. In all reported cases, the presence of lipocytes and fat vacuoles is considered the paramount histopathological feature. Total surgical resection was achieved in 80% (12 out of 15) of the cases. Only two cases (including ours) received radiation therapy. Recurrence was seen in two patients during follow-up that was treated by radiation therapy in one and surgery in the other. The proliferation index is mostly below 5% in all cases, with the Ki-67 range between < 1% to 10%.ConclusionsLateral ventricular liponeurocytoma has been treated effectively by surgical resection in a limited number of cases. The decision for radiation therapy is based on a high proliferation index and tumor recurrence.     

“1+5”式支持教育联合体表感官刺激在住院精神分裂症患者中的应用

目的"1+5"式支持教育即1名辅导员负责5例患者,本研究探讨其联合体表感官刺激在住院精神分裂症患者中的应用效果。方法选择医院2019年1月—2020年3月住院精神分裂症患者80例为研究对象,按照组间年龄、病程、婚姻状况、住院时间、干预前简明精神病评定量表(BPRS)具有可比性的原则分为对照组和观察组,每组40例。对照组采取常规护理,观察组在对照组基础上加以"1+5"式支持教育联合体表感官刺激,比较两组患者的精神症状及社会功能状况。结果观察组患者精神症状严重程度低于对照组,社会功能评定量表(SSPI)各因子评分均高于对照组,差异比较有统计学意义(P<0.05)。结论"1+5"式支持教育联合体表感官刺激在住院精神分裂症患者中的应用,能改善其精神症状及社会功能,促进疾病康复。     

枕下三角的超声解剖学研究

目的探讨枕下三角境界及内容物的检查方法与超声解剖学特点,为临床检查枕下三角提供超声影像学资料。方法对100例健康成年人枕下区进行超声检查,描述枕下三角境界的超声判定及解剖关系;阐述枕大神经的走行特点,测量头下斜肌表面枕大神经的横截面积;记录椎动脉V3段管腔内径(D)、收缩期峰值流速(PSV)、舒张期末流速(EDV)、阻力指数(PI)。结果 (1)寰椎后结节左侧约1 cm处纵切声像图显示寰椎后弓呈"短弧形"强回声,其后上方为头后大直肌、后下方为头下斜肌,三者分别构成枕下三角的底、内上界和外下界。(2)寰椎侧块处纵切声像图显示侧块为"平台样"强回声结构,其后方为椎动脉V3段、下方紧接寰椎后弓;后弓后方为头下斜肌、后上方为头上斜肌,头上斜肌构成三角的外上界,后弓与椎动脉V3段之间为枕下神经所在区域。(3)枕大神经长轴声像图显示神经从头下斜肌下缘发出后向内上走行于头下斜肌及头后大直肌与头半棘肌之间;不同性别头下斜肌表面枕大神经横截面积两侧比较,差异均无统计学意义(P>0.05)。(4)寰椎侧块处横切声像图显示椎动脉V3段呈"倒U形"绕侧块进入枕骨大孔,排除发育不良者,测V3段D为(3.52±0.39)mm、PSV及EDV分别为(43.33±9.05)、(21.87±5.86)cm/s、RI为(0.49±0.11)。结论超声是检查枕下三角及其内容物的理想方法。