Immobilization osteoporosis (IOP)is a common complication in clinic and cosmonauts. It severely impaired the patients ant the cosmonauts. The causes of IOP are weightless,immoblization and bed rest.Excercise therapy is very important for IOP. The etiology andpathogenesis of IOP are introduced in this article. the effects, mechanism and methods of the exercise therapy for preventing and treating IOP arealso discussed.

Objective To explore the possible etiological factors in chronic abacterial prostatitis. Methods 16SrRNA gene of gram-negative bacteria was assayed in 10 urethral swab and 24 EPS samples from the patients with chronic abacterial prostatitis.Also,samples from 10 normal male adults (controls) EPS were assayed by the same technique. Results Among the 24 chronic abacterial prostatitis EPS samples,16SrDNA was positive in 13.But the result was negative in all the urethral swab samples.Only one of the 10 normal EPS was positive for 16SrRNA gene( P

A total of 473 patients of diabetic nephropathy (DN) with normal serum creatinine were recruited.Blood routine,blood lipids and urine albumin/creatinine ratio (UACR) were measured.They were divided into microalbuminuria group (DN1,n =246 ) and macroalbuminuria group (DN2,n =227 ).The white blood cell (WBC) count,monocyte count and CRP significantly increased with the progression of DN in the DN2 group versus those in the DNI group [ (6.8 ± 1.7 ) × 109/L vs.(6.3 ± 1.5 ) × 109/L,(0.49±0.23) ×109/Lvs.(0.32 ±0.21) ×109/L,(4.1 ±1.1)mg/Lvs.(1.7±0.3) mg/L,all P＜ 0.05].According to multiple linear regression analysis,WBC,monocyte,low density lipoproteincholesterol and lymphocyte were found to be independent influencing factors for the elevation of UACR.

Objective To evaluate the efficacy and safety of short-term sensor-augmented insulin-pump (SAP) therapy for poorly controlled patients with type 1 diabetes mellitus (T1DM).Methods Sixty T1DM patients with glycosylated hemoglobin (HbA1c)>9.0% were randomly assigned to 2 groups treated with SAP or multiple daily insulin injection ( MDI) for 6 days, then all patients converted to MDI therapy. Results Compared with MDI group and before therapy, the mean blood glucose concentration ( MBG) , SD of blood glucose, mean amplitude of glycemic excursion ( MAGE) and 24-h area under curve at 10.0 ( AUC10.0 ) levels in SAP group significantly decreased after 6-day therapy ( compared with MDI group:t=1.761,P=0.028, t=2.569,P=0.037, t=2.712,P=0.020, t=2.985,P=0.014, compared with before therapy:t=3.128,P=0.006, t=2.689,P=0.024, t=2.966,P=0.013, t=3.076,P=0.009);while there was no difference in 24-h area under curve at 3.9 (AUC3.9) between groups (P>0.05).After 1 month follow-up HbA1c levels decreased in SAP group (t=2.344,P=0.023) and were significantly lower than those in MDI group (t=1.844, P=0.035).There was no difference in daily insulin dosage, fasting C peptide (FCP) and postprandial 2h C peptide (2hCP) between two groups (P>0.05).Age (t=2.125, P=0.012) and SAP therapy (t=3.376, P=0.009) were independently correlated with the HbA1c after 1 month.Conclusion Short-term SAP therapy is effective and safe for poorly controlled T1DM patients with rapid glucose lowering and glycemic excursions reduction.

Ichthyosis refers to a group of skin diseases characterized by abnormal keratinization of the epidermis,resulting in dryness,roughness and scale of the skin.A girl with ichthyosis,who presented with skin ulcers and infection of the right dorsal foot,was admitted to our department.An autologous razor-thin skin grafting procedure was performed to repair the skin ulcers after debridement and vacuum sealing drain.After 8 months of follow-up,both the donor and recipient site healed well and there were no newly formed ulcers or infections.Although the skin quality of ichthyosis is poor,the lesion area can still be used as donor or recipient cite.

Peripheral arterial disease (PAD) shows increasing morbidity and mortality. Clinical manifestations of PAD, such as intermittent claudication, rest pain and nonhealing ulcer, contribute to impaired quality of life, and ischemic stroke caused by PAD can be life-threatening. Unfortunately, PAD patients often receive suboptimal treatment, and pathogenesis of the disease is still unclear. Over the past decade, the evolving technology and interdisciplinary collaboration have enabled improvement of diagnosis and treatment for PAD. This review makes a brief summary of the current status and progress in genetics research on PAD, which included candidate gene studies, linkage analyses, genome-wide association studies, and applications and development prospects of epigenetics, mitochondrial DNA and other new technologies.
Animals ; DNA, Mitochondrial ; genetics ; Genetic Predisposition to Disease ; genetics ; Genome-Wide Association Study ; methods ; trends ; Genotype ; Humans ; MicroRNAs ; genetics ; Peripheral Arterial Disease ; genetics ; therapy ; Polymorphism, Single Nucleotide ; Risk Factors

Objective:To summarize the genotype and phenotype of epilepsy in patients with interferon regulatory factor 2 binding protein-like (IRF2BPL) gene variants.Methods:Data of 6 epilepsy patients with IRF2BPL gene variants seen from May 2017 to September 2020 in the Department of Pediatrics of Peking University First Hospital were retrospectively collected. The clinical characteristics and genetic test results were analyzed.Results:A total of 6 patients with IRF2BPL gene variants (1 boy and 5 girls) were identified. The age of seizure onset was from 3.5 to 7.0 months. Epileptic spasms were observed in 6 patients, tonic seizures and tonic-spasms were observed in 1 patient and focal seizure was observed in 1 patient. All 6 patients presented with developmental delay, 5 patients presented with hypotonia, and 2 patients presented with dysphagia. Microcephaly,nystagmus,chorea and athetosis were observed in 1 patient. The electroencephalography (EEG) showed slow background activity in 2 patients. Hypsarrhythmia was observed in all 6 patients. Focal epileptic discharges were observed in 2 patients. Epileptic spasms were monitored in all 6 patients. Focal seizure and tonic-spasm were monitored in 2 patients respectively. The brain magnetic resonance imaging (MRI) showed cerebral atrophy and dysplasia of the corpus callosum in 1 patient, delayed myelination in 2 patients and normal in 3 patients. Two patients had missense variants c.1280C>T/p.L474F and c.1420C>T/p.S427L, 3 patients had frameshift variants c.232delG/p.V78Sfs*73, c.244del/p.A82Pfs*70 and c.283-308del/p.Ala95Thrfs*29, 1 patient had non-frameshift deletion variant c.1453-c.1455delTTC/p.F485del, and all of the 6 cases had de novo variants. All patients were diagnosed with infantile spasms. The last follow-up age ranged from 1 year to 3.8 years. Four patients achieved seizure-free and 2 patients still had frequent seizures after the treatment with antiepileptic drugs (adrenocorticotropic hormone, topiramate, and vigabatrin).Conclusions:IRF2BPL gene variants are mainly de novo. The age of seizure onset is mainly in infancy, and epilepsy and developmental delay are the main clinical manifestations. Infantile spasm is the main phenotype, some patients have hypotonia and dysphagia. Cerebral atrophy can be observed in a few patients.

Objective:To summarize the clinical characteristics and the features of electroencephalograph (EEG) of children with DEPDC5 gene variants related epilepsy.Methods:The clinical data, gene variation, EEG and head magnetic resonance image (MRI) of 20 epileptic children with DEPDC5 gene variants admitted to Department of Pediatrics, Peking University First Hospital from May 2017 to November 2020 were retrospectively analyzed.Results:Twenty patients with heterozygous DEPDC5 gene variants were enrolled, 8 of 20 patients were nonsense variants, 6 were missense variants, 3 were frame-shift variants, 2 were splicing variants, and 1 was large fragment deletion. Sixteen cases had hereditary variation and 4 had de novo variation. Fifteen of variations were novel. Nine were male, while 11 were female. Their latest follow-up age ranged from 10 months to 13 years and one month.The epilepsy onset age ranged from 3 hours to 11 years and 3 months, the median age was 10.5 months. Twelve (60%) patients had developmental delay. Nineteen patients had focal seizures, 7 had epileptic spasms, 1 had multiple seizure types including tonic, atypical absence, dystonic and myoclonic seizures. Epileptic form discharges were observed in 18 patients during the interictal phase, and 11 were focal discharges, 7 were multifocal discharges. Ten (50%) patients had abnormal brain MRI, including focal cortical dysplasia in 5 patients, undefined malformation of cortical development in 4 patients, hemimegalencephaly in 1 patient. Four patients were diagnosed as West syndrome and one patient was diagnosed as Lennox-Gastaut syndrome. Fourteen (70%) patients were diagnosed as drug-resistant epilepsy. Four patients became seizure-free by treatment with anti-epileptic drugs. Three children were treated with surgery, and 2 of them became seizure-free, 1 had more than 75% reduction in seizures.Conclusions:DEPDC5 gene variant epilepsy is inherited with incomplete penetrance and focal seizure is the major seizure type. However, epileptic spasms, generalized seizures can also be observed. Half of the patients brain malformations. Most of the patients are drug-resistant epilepsy. Patients with clear epileptogenic zones can be treated with surgery. Treatment-resistant patients are more likely to be complicated with developmental delay.

Objective:To summarize the clinical features of developmental epileptic encephalopathy children with DNM1 gene variants. Methods:The genotypes and clinical features of 15 children with DNM1 variants related epilepsy in the Department of Pediatrics, Peking University First Hospital from June 2017 to October 2021 were retrospectively analyzed. Results:A total of 8 male and 7 female epilepsy patients with DNM1 gene variants with the age of seizure onset ranging from 15 days to 22 months were recruited, median age was 8 months.All cases belonged to de novo heterozygous variants of the DNM1 gene, including 13 cases of missense variants, 1 case of frame shift variant and 1 case of nonsense variant, 8 cases of ectopic sites have not been reported.Multiple seizure types were observed, including epileptic spasms in 15 patients, focal seizure in 9 patients, atypical absence seizure in 2 patients and tonic seizure in 2 patients.There were various types of seizures in 7 children.Nine cases occurred as infantile spasm for the first time.All 15 patients showed varied degrees of development delay, among them, 11 cases had developmental retardation before epilepsy.Three patients had slow rhythm of electroencephalogram background activity, the electroencephalography showed hypsarrhythmia in 13 patients; clinical seizures were detected in 8 cases, among them, epileptic spasms were captured in 7 patients, tonic seizure was captured in 1 patient.Widened frontotemporal subarachnoid space, cerebral atrophy, and corpus callosum dysplasia were examined in 6, 2 and 3 patients by cranial magnetic resonance imaging, respectively.All 15 cases were diagnosed as developmental epileptic encephalopathy, of which 13 cases were consistent with infantile spasms.The age of the last follow-up ranged from 1 year old to 7 years old.After multi-antiepileptic drug treatment, 2 patients were remission, 1 patient(small size of identical twins) died of severe pneumonia at the age of 2 years, and 12 patients still had intermittent seizures, of which 1 patient was transformed from infantile spasms to Lennox-Gastaut syndrome. Conclusions:The onset age of developmental epileptic encephalopathy caused by the DNM1 gene variant usually begins in the infantile period, the peak onset age was 8 months.The main types of seizures include epileptic spasms and focal seizures, developmental retardation can occur before seizures.The clinical manifestations are mostly infantile spasms syndrome, and some children can be transformed into Lennox-Gastaut syndrome.

Germany owns the largest herbal market in Europe and has the world's leading R&D capabilities for herbal medicine products. Chinese herbal medicine (CHM) spreaded to Germany hundreds of years ago. Since the beginning of the 20th century, China and Germany have signed a series of agreements to support traditional medicine cooperation, and the exchange of herbs between China and Germany has become more frequent, bringing opportunities for CHM to enter into Germany. In recent years, China and Germany have gained progress in the fields of CHM research and trade, etc. However, there are differences in the understanding of herbal medicines, quality standard evaluation, usage, and medication rules between the two countries. By doing SWOT analysis of the development of CHM in Germany, this paper suggested to promote Sino-German medical exchanges and build a community of common health for mankind through strengthening the clinical application of CHM, finding new ways of CHM entering into German market, and building an international talent team of traditional Chinese medicine.