Objective To analyze and summarize the clinical , pathological features of 16 patients with centronuclear myopathy.Methods All of the 16 patients performed clinical examination and sporadic patients and a proband with family history ( n=6 ) performed serum creatine kinase , electromyography and open muscle biopsies , and the specimens were used for a standard series of histological and histochemical stainings.The clinical and pathological features of these patients were analyzed.Results The proportion of centronuclear myopathy in suspected myopathy cases was 0.127%(6/4 724) in our department.The onset time ranged from infancy to adulthood.The common initial symptoms included mild to moderate weakness of lower limbs and bilateral ptosis ( n =4 ).The other symptoms were facial weakness ( n =1 ) and ophthalmoplegia (n=1).There were 12 patients performing distal weakness exceeding proximal weakness . One family with autosomal dominant inheritance of 11 patients had a later age of onset than the sporadic ones and manifested bilateral ptosis , bilateral lower limbs weakness , especially in distal muscle.Muscle biopsies showed pronouncedly increased amount of fibers with centrally placed nuclei with predominant type Ⅰfibers and a clear perinuclear halo surrounding the centrally placed nuclei and an appearance of spoke of a wheel in some fibers.Conclusions This series of centronuclear myopathy patients manifest clinical heterogeneity.Muscle biopsies show features of centralized nuclei pronounced increase , type Ⅰfibers predominance , etc.These can provide evidences for the diagnosis of the disease.

OBJECTIVETo investigate relationship between the expression of hepatocyte growth factor(HGF) and lymphatic vessel formation in gastric cancer(GC), and to further clarify the possible ways of HGF promoting GC lymphangiogenesis and lymphatic metastasis.

METHODSThe expression of HGF, VEGF-C, c-Met and microlymphatic density(MLD) in tumor and non-tumor areas of 60 cases of GC and 20 cases of peptic ulcer (PU) were evaluated by immunohistochemistry. The relationships between MLD and clinicopathologic features of GC were analyzed.

RESULTSThe proteins of HGF, VEGF-C, and c-Met were overexpressed in GC tissues, which were significantly higher than those in normal gastric and PU tissues (P<0.001). The MLD of GC was also significant higher than those of normal gastric tissue and PU tissues (P<0.05). C-Met was expressed on enlarge lymphatic vessels in GC and PU tissues. MLD was positively correlated with the expression of HGF in GC (P<0.001).

CONCLUSIONHGF as well as VEGF-C is a lymphangiogenic factor in GC. HGF can directly or indirectly stimulate lymphangiogenesis and contribute to lymphatic metastasis in GC.

Adult ; Aged ; Aged, 80 and over ; Female ; Hepatocyte Growth Factor ; metabolism ; Humans ; Lymphangiogenesis ; Lymphatic Metastasis ; Lymphatic Vessels ; pathology ; Male ; Middle Aged ; Proto-Oncogene Proteins c-met ; metabolism ; Stomach Neoplasms ; metabolism ; pathology ; Vascular Endothelial Growth Factor C ; metabolism

Objective To investigate the prevalence and influencing factors related to abuse and negligence against the elderly in the rural areas. Methods 975 elderly over 60 years from 41counties in Anhui province were included. All participants completed an anonymous questionnaire including items as: educational background, marital condition, income, child-discipline, rude action to parents, daily activities, physical functions, having chronic illness, abuse and negligence against the elderly, etc. Results In the last year, rates of common physical abuse, serious physical abuse,emotional abuse, financial exploitation, negligence, overall abuse and negligence against the elderly were 4.5%, 1.5%, 26.9%, 4.9%, 7.2%, 29.9% respectively. Among the 281 victims, 80.4% reported that they were suffered more than 3 times of abuse and neglect episodes, and 34.9% reported that they were suffered more than 2 forms of abuse and negligence. The primary sadism was carried out by the daughter-in-law or son-in-law (43.2%) of the elderly. Low activity on daily life and having chronic illness were the risk factors causing common physical abuse while better education was the protective factor to it, Low ability in managing daily activity of living was the risk factor causing serions physical abuse. Less active on daily life and having rude action to parents were the risk factors to emotional abuse, but being strict with their children was the protective factor to emotional abuse. Less active on daily life, often beating their children and having rude action to parents were the risk factors related to financial exploitation. Less active on daily life, having rude action to parents and having bad physical functions were the risk factors causing negligence. Less active on daily life and having rude manner to parents were the risk factors of overall elderly abuse and negligence, but being strict with their children was protective factor to the abuse and negligence against the elderly. Conclusion High prevalence on abuse and negligence against the elderly was seen in the rural areas of China. Different forms on elderly abuse and negligence were affected by different factors that called for more attention to be paid to those elderly with lower ability in managing their daily life.

Objective To compare the correlation between transcutaneous bilirubin(TcB) measurement and serum bilirubin (TSB) measurement at covered and exposed skin sites during phototherapy in neonates.Methods Two sites of exposed skin and two sites of covered skin were chosen to measure the transcutaneous bilirubin.The serum bilirubin was monitored at admission and during phototherapy,while the transcutaneous bilirubin was tested and recorded at the same time of monitoring the serum bilirubin.Results A total of 112 cases were included from January 29th to April 15th in 2016.At the four monitoring points during phototherapy,the differences between the transcutaneous bilirubin of the two exposed sites and the serum bilirubin were statistically significant (P＜0.01).For the covered site 4,there were no significant differences between transcutaneous bilirubin and serum bilirubin at every test point (P＞0.05).When the serum bilirubin was higher than 307.8 μmol/L (18mg/dl),the serum bilirubin measurement was larger than the transcutaneous bilirubin measurement.Conclusion The transcutaneous bilirubin level of covered skin was more close to serum bilirubin,especially when the covered median skin of the second rib was chosen to monitor the transcutaneous bilirubin.When the serum bilirubin was greater than 307.8 μmol/L(18mg/dl),the transcutaneous bilirubin couldn't represent serum bilirubin quite well.

Glioblastoma(GBM)is a lethal cancer with limited therapeutic options.Dendritic cell(DC)-based cancer vaccines provide a promising approach for GBM treatment.Clinical studies suggest that other immu-notherapeutic agents may be combined with DC vaccines to further enhance antitumor activity.Here,we report a GBM case with combination immunotherapy consisting of DC vaccines,anti-programmed death-1(anti-PD-1)and poly I:C as well as the chemotherapeutic agent cyclophosphamide that was integrated with standard chemoradiation therapy,and the patient remained disease-free for 69 months.The patient received DC vaccines loaded with multiple forms of tumor antigens,including mRNA-tumor associated antigens(TAA),mRNA-neoantigens,and hypochlorous acid(HOCl)-oxidized tumor lysates.Furthermore,mRNA-TAAAs were modified with a novel TriVac technology that fuses TAAs with a destabilization domain and inserts TAAs into full-length lysosomal associated membrane protein-1 to enhance major histo-compatibility complex(MHC)class Ⅰ and Ⅱ antigen presentation.The treatment consisted of 42 DC cancer vaccine infusions,26 anti-PD-1 antibody nivolumab administrations and 126 poly I:C injections for DC infusions.The patient also received 28 doses of cyclophosphamide for depletion of regulatory T cells.No immunotherapy-related adverse events were observed during the treatment.Robust antitumor CD4+and CD8+T-cell responses were detected.The patient remains free of disease progression.This is the first case report on the combination of the above three agents to treat glioblastoma patients.Our results suggest that integrated combination immunotherapy is safe and feasible for long-term treatment in this patient.A large-scale trial to validate these findings is warranted.

BACKGROUNDMyopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.

METHODSA clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.

RESULTSDisease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.

CONCLUSIONSWe reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

Adolescent ; Adult ; Child ; Deafness ; diagnosis ; physiopathology ; Dysarthria ; diagnosis ; physiopathology ; Electromyography ; Female ; Humans ; Male ; Muscle Weakness ; diagnosis ; physiopathology ; Muscle, Skeletal ; pathology ; physiopathology ; Muscular Diseases ; diagnosis ; physiopathology ; Muscular Dystrophy, Oculopharyngeal ; diagnosis ; physiopathology ; Pedigree ; Vacuoles ; pathology ; Vision Disorders ; diagnosis ; physiopathology ; Young Adult