The diagnosis and treatment resources for rare diseases in China are highly imbalanced. The basic diagnosis and treatment capabilities are weak, the diagnosis period for patients is long, and the rates of missed diagnosis and misdiagnosis are relatively high. The establishment of a hierarchical diagnosis and treatment system is the inevitable approach to enhancing the diagnosis and treatment standards of rare diseases. Currently, the implementation of the domestic hierarchical diagnosis and treatment system for rare diseases still confronts numerous challenges, such as ambiguous referral standards and processes of primary medical institutions, and ineffective information interaction among institutions at all levels. Thus, it is essential to facilitate high-level information construction for the hierarchical diagnosis and treatment of rare diseases. This paper explores the process of constructing a multidisciplinary joint remote diagnosis and treatment platform and a health management platform through informatization, with the hope of establishing two closed loops of digital diagnosis and treatment services and health follow-up management for patients with rare diseases, as well as achieving timely diagnosis and lifelong health management for patients. It integrates and optimizes auxiliary diagnostic tools, promotes the rapid dissemination of rare disease diagnosis and treatment experiences to the grassroots, enhances the information construction level of the hierarchical diagnosis and treatment system, and endeavors to address the practical predicament of weak diagnosis and treatment capabilities of rare diseases in grassroots medical institutions. Additionally, this paper proposes an essential approach for multi-dimensional independent innovation to guide the popularization of efficient and high-quality rare disease diagnosis and treatment services. By encompassing innovating the rare disease diagnosis and treatment collaboration network and multidisciplinary diagnosis and treatment model, facilitating the application of the latest biomedical and informatics technologies to the grassroots, and constructing a national intelligent data platform for rare disease innovation, a new model for rare disease services with Chinese characteristics will be established. This will significantly enhance the medical treatment level of rare diseases in China and strive for more benefits for patients.

Objective:To study the clinical value of the ISBAR communication model based on nursing priorities in nursing ward rounds.Methods:Using a quasi-experiment method, 104 patients who received secondary and tertiary care from April to June 2020 were set as the control group, and 122 patients who received secondary and tertiary care from July to September 2020 were set up as the experimental group, with non-randomized method. The experimental group used the ISBAR communication model based on nursing priorities for nursing ward rounds, and the control group used the traditional method for nursing ward rounds. The abilities of bedside nurses collecting the patients′condition, the bedside nurses′ condition observation and the nurses′ critical thinking were compared between the two groups, and the patients' nursing quality and satisfaction were also compared.Results:The scores of the bedside nurses′ knowledge of the patients′ condition were 81.14±3.09 in the test group and 75.90±2.84 in the control group, with statistically significant difference ( t value was -12.88, P<0.01). The scores of the bedside nurses′ ability in observing patients′ condition were 140.50 (137.00, 144.50) in the experimental group and 135.50 (128.75, 139.00) in the control group, with statistically significant difference ( Z value was -3.399, P<0.01). The scores of the Critical Thinking Disposition Inventory Chinese-version (CTDI-CV) were 309.82±36.33 in the experimental group and 286.86±33.54 in the control group, with statistically significant difference ( t value was -2.177, P<0.05). The scores of patient care quality evaluation were 62.50 (60.00, 64.00) in the experimental group and 59.00 (55.00, 61.50) in the control group, with statistically significant difference ( Z value was -6.47, P<0.01). The patient discharge satisfaction score of the experimental group was 53.00 (48.75, 55.00), and that of the control group was 51.00 (44.00, 54.00), with statistically significant difference ( Z value was -3.56, P<0.01). Conclusions:The application of ISBAR communication model based on nursing priorities in nursing ward rounds had a significant promotion effect on the improvement of nurses' abilities of collecting the patients′ condition, observing patients′ condition, and critical thinking, and can effectively improve nursing care quality and patients′ satisfaction.

Objective To analyze the clinical characteristics of pseudohypoparathyroidism ( PHP ) inpatients in our hospital from January 2008 to December 2017 and to gain a better understanding of this disorder. Methods 18 inpatients diagnosed as sporadic PHP in our hospital were analyzed retrospectively, as regarding the clinical manifestation, laboratory examination and imaging data. Results 18 inpatients were diagnosed sporadic PHP consisting of 12 males and 6 females, with 13 adults and 5 child participants respectively. The medium age of onset was 14 (6-57), and the average age at diagnosis was (24.9± 14.7) years old. Initial onset of symptoms reported were: 12 patients complained of tetany, 3 reported convulsions, 1 reported numbness, 1 reported dysnoesia, and 1 were asymptomatic. Among them: 3 patients were found to have short distal phalanx, 7 displayed a round face, and 3 out of 15 adults were less than 155 cm in height. 12 patients had a positive Trousseau sign, 1 had an ectopic calcification. 11 were found to have intercranial massive calcifications by head computed tomography. Serum calcium was reported at (1.58 ± 0.11) mmol/ L and parathyroid hormone was (359.5 ± 146.6) pg/ ml. 3 patients were discovered to have hypothyroidism, 2 had been misdiagnosed with epilepsy, and 1 with encephalitis. Conclusions Tetany and intracranial calcifications were the most common signs of PHP patients. A number of the PHP cases in this study lacked typical Albright's Hereditary Osteodystrophy ( AHO) appearance. The age of onset and or duration of the disease varied somewhat in the different patient populations. The heterogeneity nature of the clinical manifestations of PHP makes it difficult to diagnose. It is therefore important to make accurate differential diagnosis of PHP to avoid misdiagnosis of the condition.

Objective To evaluate the clinical value and effect of biofeedback training therapy for functional constipation in elderly patients.Methods A total of 78 elderly patients with functional constipation were treated at the People's Hospital of Pudong New Area,and were divided randomly into two groups.The control group (n =39) received routine treatment plus oral polyethylene glycol,while the experimental group (n=39) received biofeedback training treatment in addition to what was offered to the control group.After treatment,constipation symptom scores,anorectal dynamic parameters and clinical effects were compared between the two groups.Results The scores on excrement characteristics,defecation difficulty,and time and frequency of defecation were better in the experimental group than those in the control group (t=5.670,4.740,4.170,5.530;P=0.016,0.034,0.039,0.022,respectively).The overall effectiveness rate was 94.9 ％ (37/39) in the experimental group,which was higher than that (71.8 ％,2 8/3 9) in the control group (x2 =4.493,P=0.030).Meanwhile,the levels of 3 SC and 10 SC in the two groups were higher than those before treatment,but the level of 10SR was lower than that before treatment (all P＜0.05).Moreover,improvement in 3SC,10SC and 10SR were more significant in the experiment group than in the control group (all P＜ 0.05).Conclusions Biofeedback training therapy is safe and effective for elderly patients with constipation to relieve constipation symptoms,enhance control of defecation and promote defecation.

Objective:To investigate the KRAS gene mutation features in lung and gastric cancers and their relationship with clinicopathologic characteristics. Methods:A total of 128 lung cancer and 115 gastric cancer patients were included. Polymerase chain reaction amplification and DNA sequencing were conducted to detect mutations in exon 2 of the KRAS gene. Results:The mutation frequency of KRAS was different in lung and gastric cancers;however, it did not show any statistical significance (6.3%vs. 4.3%, P>0.05). The KRAS codon 12 gene mutation ranks the first in both types of cancer. No significant correlation was observed between the prevalence of KRAS mutations and patient's age and gender. KRAS gene mutation rate was higher in lung adenocarcinoma than in non-adenocarcinoma, such as squamous cancer (10.7%vs. 0%, P<0.05). Conclusion:No correlation was found between the KRAS gene mutation and the sex and age of lung and gastric cancer patients in Jiangsu Province. The rate of KRAS mutation was low. KRAS gene mutation rate was relatively higher in lung adenocarcinoma patients;thus, the mutation status of the KRAS gene should be evaluated be-fore undergoing EGFR-TKI therapy.

Objective To investigate the effect of progesterone pretreatment of focal cerebral ischemic and reperfusion injury (fCIRI) and underlying molecular mechanisms.Methods A single intraperitoneal injection of progesterone (8 mg/kg) given 1 h,48 h and 96 h before fCIRI was established in male Sprague-Dawley rats.The number of survival of neurons in hippocampal CA1 region of the ischemiaside,as well as spatial memory function,was detected on days 3-8 after fCIRI.Extracellular-signalregulated kinase 1/2 phosphorylation (p-ERK1/2) and nuclear translocation of p-ERK1/2 in hippocampal CA1 region were examined using western blot.Results The number of survival of neuronal cells was significantly increased in ischemic groups treated with progesterone at 1 h and 48 h pre-fCIRI (164.3 ± 11.0,218.5 ± 9.1 and 142.7 ± 12.1,F =29.4,P ＜ 0.01) compared with fCIRI group treated with vehicle.Likewise,the escape-latency to reach the hidden-platform recorded in day 5 of Morris water maze test was reduced markedly in fCIRI-treatment groups compared with the vehicle group(10.3 ± 11.1,19.2 ±9.6 and 32.4 ± 14.3 ;F =35.8,P ＜0.01).The level of p-ERK1/2 was elevated notably during 24 h to 48 h postprogesterone by western blot,while restored to the baseline at 96 h post-progesterone.Improved nuclear translocation of p-ERK1/2 was observed from 2 h to 48 h post-progesterone.The progesterone receptor antagonist RU486 blocked the exaltation of either intracellular level or nuclear translocation of p-ERK1/2,which was induced by progesterone.Conclusions The pretreatment with progesterone exerts a neuroprotective effect against the ischemia-induced neuronal death and ameliorates the deficits in spatial memory through enhancing the activation of ERK1/2.The neuroprotection derived from pretreatment with progesterone achieves a time window of not less than 48 h,which is progesterone receptor-mediated ERK1/2 signaling pathway-dependent.

Objective To study the association of tryptophan hydroxylase-2 (TPH2) gene polymorphism and antisocial personality disorder (ASPD) and its impulsivity in Chinese Han population. Methods The single nucleotide polymorphism (SNPs) of TPH2 in transcriptional control region,-703G/T,was analyzed by PCR-RFLP genotyping assay in 117 ASPD patients and 142 healthy controls. Barratt Impulsiveness Scale-11 (BIS-11) was used to evaluate the impulsivity of subjects. Results There were significant differences between ASPD and controis on genotype and allele frequencies of TPH2-703G/T (x2 = 7.73, P ＜ 0.05; x2 = 5.12, P ＜ 0.05). The GG genotype and G allele were positively associated with ASPD(OR = 1.458,95% CI = 1.080 ～ 1.968 ;OR = 1.479,95% CI = 1.045 ～ 2.094). The scores of BIS-11 and its factors in GG genotype group((71.28 ± 7.50), (19.60 ±3.41), (25.73 ± 4.92), (25.95 ± 4.77) ) were higher than GT genotype group (( 66.23 ± 8.06), (17.79 ±3.02) ,(23.06 ±3.84) ,(25.38 ±4.97)) and TT genotype group((66.55 ±8.49),(18.50 ±3.35),(23.45 ±4.08), (24.97 ± 4.90)), but only the difference of BIS-11 total scores, the attention and motor factor scores among three groups were statistically significant (P＜0.05). The scores of BIS-11 and its factors in G allele group ((69.38 ±8.04), (18.92 ± 3.36), (24.73 ±4. 69), (25.73 ±4.82)) were higher than T genotype group ((66.41 ±8.22),(17.98 ±3.26),(23.27 ±3.94), (25.15 ±4.89)),however,only the difference of BIS-11 total scores, the attention and motor factor scores between two groups were statistically significant.Conclusion TPH2-703G/T polymorphism may be association with ASPD in Chinese Han population. The GG genotype and G allele may be the risk factors of ASPD and impulsivity.

Objective To investigate the effect of prevention and treatment of urinary retention for patients after abdominal surgery using electroacupuncture unit model 6805.Methods 180 cases of ab-dominal surgery patients were randomly divided into three groups, the treatment group(64 patients)were treated with electroacupuneture at the points of sanyinjiao, zhongji, pangguangyu, the control group 1(57patients)Was treated with moxibustion and foment were used in the control group 2(259 patients).The incidence rate of urinary retention Was compared between the three groups. Results The rate of spontaneously emiction was 56.25%in 30 minutes and 35.94%in 40 minutes in the treatment group, the results in the control group 1 and 2 were 22.81% and 15.79%,23.73% and 13.56% respectively. There were significant differences between three groups. Conclusions Electroacupuncture Can effectively prevent and treat urinary retention after abdominal operation.

Objective To simply the method of how to obtain cultures rich in astrocytes from SD rat cerebral cortex which could be utilized in vitro experiments.Methods The neonatal rat cerebral cortex was made into suspension by mechanical dissociation,and then reduced other cells by differential velocity adherent technique,shaking in orbital shaker and passage of cultured cells.After purification,the cultured cells were identified by double immunofluorescence staining and SABC.Results We successfully obtain cultures rich in astrocytes and the proportion of astrocytes were more than 95%.Conclusion The method described above was reliable in obtaining the high purity astrocytes from neonatal rat cerebral cortex and double immunofluorescence staining was more vivid and direct.

OBJECTIVE To investigate the value of acute phase protein in the diagnosis and therapy for nosocomial infection monitoring. METHODS The levels of serum C-reactive protein(CRP),serum amyloid A(SAA),?_1-acid glycoprotein(AAG),and ?_1-antitrypsin(AAT) were measured in 71 gynecological patients with nosocomial infection during chemotherapy,Thirty normal controls and 33 chemotherapy patient controls were detected by nephelometry and compared with white blood cell counts. RESULTS The nosocomial infection rate of chemotherapy patients was 16.7%.Main pathogens were Gram-negative bacteria(60.6%).Fungi infection rate was 19.7%.The most frequent hospital infection sites were respiratory tract,gastrointestinal tract and wound.Compared with controls,the levels of serum CRP,SAA,AAG and AAT were significantly higher in chemotherapy patients with bacteria infection(P