Humans ; Muscular Dystrophy, Duchenne ; Research ; trends

Female ; Humans ; Hypothyroidism ; drug therapy ; Infant, Newborn ; Thyroxine ; poisoning ; therapeutic use

Hierarchical medical system is a high priority in China ’s health reform,bearing significant impacts on remolding of its healthcare system,in which tertiary public hospitals must redefine its role.Five strategies have been proposed as follows:the first is internal management;The second is high-tech;Third is paring assistance;Fourth is telemedicine;Fifth is better medical conditions.

Objective To observe the effects of malt extract on prolactin expression and morphology of mammary tissue in hyperprolactinemia rats. Methods Metoclopramide hydrochloride was injected subcutaneously to establish hyperprolactinemia model. Sixty rats were divided into normal control group, model control group, bromocriptine group, high-dose, middle-dose and low-dose malt extract groups. Except normal control group, hyperprolactinemia model was established in the other groups. Bromocriptine (0. 389 mg·kg-1 ·d-1 ) was given to bromocriptine group. Malt extract (7. 98, 15. 96 and 31. 92 g·kg-1 ·d-1 ) was administered in low-dose, middle-dose and high-dose malt extract groups. Equal volume of purified water was given to normal control group and model control group. After 30 days of administration, PRL positive cell number of rat hypophysis was counted. RT-PCR was used to measure hypophysis PRL mRNA expression, and morphology of mammary tissues was observed by immunohistochemical method. Results PRL positive cell number was (2. 4±0. 3), (21. 7±0. 8), (3. 8± 0. 5), (4. 5±0. 4), (6. 7±0. 5) and (15. 8±1. 2) in normal control group, model control group, bromocriptine group, high-dose, middle-dose and low-dose malt extract groups. PRL mRNA expression level was (0. 31±0. 02), (1. 58±0. 06), (0. 45± 0. 04), (0. 49±0. 03), (0. 61±0. 04), and (0. 95±0. 09), respectively. As compared with normal control group, hypophysis PRL positive cell number and PRL mRNA expression level of high-dose and middle-dose malt extract group were increased significantly (P<0. 01), and hyperplasia of mammary glands appeared. As compared with model control group, hypophysis PRL positive cell number and PRL mRNA expression level of high-dose and middle-dose malt extract group was decreased significantly (P<0. 01), and hyperplasia of mammary glands was alleviated obviously. Conclusion Malt extract can effectively treat hyperprolactinemia and inhibit hyperplasia of mammary glands through significantly decreasing the expression of hypophysis prolactin in hyperprolactinemia rats.

Objective:To investigate the clinical features, imaging features, treatment options and prognosis of linear scleroderma with central nervous system involvement.Methods:One case of linear scleroderma " en coup de sabre" (LSES) school-age child suffering from dizziness, vomiting and blurred vision was admitted to the Department of Pediatrics, Peking University First Hospital on March 25, 2019.The curative effect was observed after treatment.The relevant literature was searched, and the characteristics of cases and therapeutic effects were reviewed.Results:The clinical features of this case included recurrent and transient dizziness, vomiting, and blurred vision.Cranial imaging indicated abnormal signals in the left frontotemporal lobe white matter, cingulate gyrus, basal ganglia region, and corpus callosum proximal pressure part, multiple soft meningeal line enhancement and abnormal brain substance enhancement on the brain surface in the lesion area.After 2 months of combined treatment with Methotrexate(MTX) and corticosteroids, some symptoms such as dizziness and vomiting disappeared.Three months after the treatment, in the primary cerebral hemisphere and multiple calcifications in the brain parenchyma, the lesions significantly reduced in cranial imaging.The child was followed up for 11 months and displayed no clinical symptoms.New hair was dense at the alopecia area, and skin color, texture and grain were close to normal at the damaged area.In the review of domestic literature, treatment and prognosis were not involved.Foreign literatures reported 5 cases of children, with the first choice of Methylprednisolone being combined with MTX treatment, significant effect was observed, and consistent with the treatment of this case.Conclusions:In order to detect and treat them as early as possible and improve the prognosis, LSES patients should undergo cranial integrity assessment and neurological imaging examination at an early stage, regardless of clinical manifestations of nervous system involvement.

Objective To investigate the therapeutic effects of recombinant human erythropoietin(rhEPO)on brain mitochondrial energy metabolism and mitachondrial respiratory functionin after brain injury in rats.Method A total of 63 Sprague-Dawley rats were divided randomly into three groups:the rhEPO treated group(n =28),the control group(n=28),the shanl group(n=7).The models of contusion of brain caused by freefalling were set up in rhEPO treated group(n=28).The recombinant human erythropoietin was intraperitoneally injected in dose of 10 U/g immediately after brain injury and it was repeated every 10 hours in rhEPO group treated.The same models of contused brain were made without rhEPO treatment as control group(n=28).In control group,the same volume of normal saline was used in replacemem of rhEPO.Aburr hole was made on the skull of the sham group(n=7),but the brain tissue was not wounded.The mitochondria were isolated at 6 h,12 h,24h,48 h after trealment,respectively.The activity of ATPase and SOD,the content MDA and brain mitochondrial respiratory function were measured by biochemical technique.The data were analyzed with the F-test and t-test.Results The activity of ATPase(P＜0.05),SOD(P＜0.01)and brain mitochondrial respiratory function(P ＜0.05)were increased.and the levd of MDA in brain mitochondria was reduced markedly in rats treated with rhEPO.Conclusions Treatment with rhEPO can alleviates the secondary brain injury by affecting mitochondrial function.

Core Binding Factor Alpha 2 Subunit ; genetics ; metabolism ; Humans ; Leukemia, B-Cell ; genetics

Objective To study the clinical characteristics,muscle pathological features,diagnosis and prognosis of TK2-related mitochondrial DNA depletion syndrome(MDS).Methods Clinical and laboratory data of 2 cases of TK2-related myopathic MDS were reported.And data of previously reported 58 TK2-related MDS cases were reviewed.Results Total 60 patients consisted of 35 male and 25 female.The age of onset ranged from the birth to the age of 74 years old,and 54 of the patients were attacked at the age younger than 3 years old.Muscle weakness and hypotonia were detected in all patients,with 40 patients(including the newly diagnosed 2 cases) manifested as pure myopathic form,and 20 patients with other multiple organs involvement.Serum creatine kinase was mildly increased (211-6 500 IU/L) in 53 patients.Elevated serum lactic acid level (2.3-12.0 mmol/L)was observed in 24 patients.Muscle biopsy was available from 55 patients,and ragged red fibers and/or cytochrome C oxidase (COX)-negative fibers were detected in 48 out of them.Nine out of 11 patients received electronic microscope study showed proliferation of abnormal mitochondria.Respiratory chain enzymatic activities in skeletal muscle were reduced in 31 out of 33 patients.Marked mtDNA content reduction was observed in 36 out of 41 patients (4％-25％ of age-and tissue-matched controls).A total of 42 TK2 mutations were found in 60 patients,including 2 novel mutations c.923A ＞ G and c.619-2A ＞ T in this study.Conclusions The most common clinical manifestations of TK2-related MDS are severely,rapidly progressing myopathy with infantile or early childhood onset.As the detection rate of characteristic pathologic features in muscle is high,muscle biopsy is important for the diagnosis of TK2-related MDS.

Objective To analyze and determine the clinical, molecular pathology and genetic features of a Chinese family with dystrophinopathy. Methods Clinical data of the proband and his family members were collected. Immunohistochemistry staining was performed on muscular biopsy tissues with antimerosin, emerin and the N, C and central rod domains of dystrophin. Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes. Multiplex ligation-dependent probe amplification (MLPA) was used to test Duchenne muscular dystrophy (DMD) gene to determine the ways and sites of genetic mutation, and analyze the relationships between genotype and phenotype. Results Patients from this family were clinically diagnosed as muscular dystrophy, and they presented serious manifestations although the immunohistochemistry analysis for the proband exhibited partial loss of dystrophin staining, and positive expression with merosin and emerin. Further test with MLPA detected the loss of exons 45--54 in DMD gene in the proband, while his mother had heterozygositic loss in exons 45--54. Conclusions The losses of exons 45--54 in the proband are all derived from his mother, who carries genetic mutation with normal phenotype. He has been diagnosed as dystrophinopathy. At the same time, his partial loss of dystrophin is not parallel to the out-of-frame mutation of the gene and his severe clinical manifestations. Abnormal expression of dystrophin is the pathological basis for dystrophinopathy phenotype. Its clinical outcome depends not only on the degree of the protein expression, but also on the function of the sites where the DMD gene less occurs.

Objective To investigate the expression of gene Fmr1 in rats cortex, hippocampus and hypothalamus areas after the rapid eyes movement ( REM ) sleep deprivation .Methods Using the modified multiple platform method (MMPM), 126 rats were randomly and averagely divided into three groups , the normal control group ( CC), the environmental control group (TC) and the sleep deprivation group (SD).Each group was detected on day 1, day 2, day 3, day 5, day 7, and day 9, and the sample tissues were extracted from 7 rats at each time point.Immunohistochemistry and RT-PCR were operated to analysis the expression of gene Fmr 1.Results The expressions of gene Fmr1 were increased gradually in the cortex and thalamus of the SD group after 3 days ( P <0.05 ) , and the expressions in the CC and TC groups had no significant difference (P >0.05).The expressions of gene Fmr1 were decreased gradually in hippocampus for SD after 3 days ( P <0.05 ) , and that in the CC and TC groups had no significant difference ( P >0.05 ) . Conclusion The expressions of gene Fmr 1 were increased gradually in the cortex and thalamus but decreased in the hippocampus in the SD group after 3 days.