The clinical diagnosis of tubulointerstitial nephritis and uveitis (TINU) syndrome combined with Fanconi syndrome is relatively rare. The paper reports a 47-year-old female patient of TINU syndrome with hypokalemia, hypophosphatemia, hypouricemia and renal impairment as initial symptoms followed by uveitis. Serological tests showed that the patient also met the diagnostic criteria of Fanconi syndrome. Renal tissue pathology confirmed tubular interstitial injury, manifested as interstitial nephritis with acute tubular injury. Ophthalmic examination confirmed iritis in the right eye. After excluding other primary diseases, the patient was diagnosed as TINU syndrome with Fanconi syndrome. After glucocorticoid therapy, ocular symptoms, renal impairment and electrolyte disturbance were significantly improved.

The contents of general practice discipline construction comprise of orientation, team development, personnel training, scientific research, teaching base establishment and management of the discipline, etc. At present, the weakness in above aspects of general practice discipline construction is still the major challenges in most of the primary healthcare institutions. Our experiences in last 10 years shows that the application of Leicester Assessment Package can effectively promote the general practice discipline development for primary care institutions.

Objective:To retrospect the blood transfusion status of patients with extensive burns in multiple centers and analyze its influencing factors.Methods:A retrospective case series study was conducted. Clinical data of 455 patients with extensive burns who met the inclusion criteria and were admitted to the burn centers of 3 hospitals from January 2016 to June 2022 were collected, including 202 patients from the First Affiliated Hospital of Nanchang University, 179 patients from the Second Affiliated Hospital of Zhejiang University School of Medicine, and 74 patients from the First Affiliated Hospital of Anhui Medical University. The following data were collected from patients during their hospitalization, including infusion of red blood cells, plasma, and platelets during hospitalization; age, gender, body mass index, combined underlying diseases, cause of injury, time of admission after injury, type of admission, total burn area, full-thickness burn area, combination of inhalation injury, combination of other trauma, and combination of pulmonary edema; the blood lactic acid, serum creatinine, total bilirubin, and albumin values within 24 h of admission; combination of bloodstream, wound, lung, and urinary tract infection, and combination of sepsis; the number of escharectomy or tangential excision and skin grafting surgery (hereinafter referred to as surgery) and total surgical blood loss volume; occurrence of hemoglobin<70 g/L, admission to intensive care unit (ICU), conduction of mechanical ventilation and continuous renal replacement therapy (CRRT), length of hospital stay, and prognosis were recorded. In 602 surgeries of patients within 14 days after injury, data including area of escharectomy or tangential excision and skin graft harvesting, duration of operation, and surgical blood loss volume per surgery, operation site, and use of tourniquet and wound graft were collected. Data were statistically analyzed with Mann-Whitney U test, Kruskal-Wallis H test, and Spearman correlation analysis. Combined with the results of single factor analysis and clinical significance, multiple linear regression analysis was performed to screen the independent influencing factors of red blood cell infusion volume and plasma infusion volume, as well as blood loss volume per surgery. Results:During the whole hospitalization period, 437 (96.0%) patients received blood transfusion therapy, including 435 (95.6%) patients, 410 (90.1%) patients, and 73 (16.0%) patients who received transfusion of plasma, red blood cells, and platelets, respectively. The patients were mainly male, aged 18 to 92 years. There were statistically significant differences in the plasma infusion volume among patients with different combination of underlying disease, combination of inhalation injury, combination of other trauma, combination of pulmonary edema, combination of bloodstream infection, combination of wound infection, combination of lung infection, combination of urinary tract infection, combination of sepsis, occurrence of hemoglobin value <70 g/L, admission to ICU, conduction of mechanical ventilation, and conduction of CRRT (with Z values of -2.06, -4.67, -2.11, -6.13, -9.56, -4.93, -8.08, -4.78, -9.12, -6.55, -9.37, -11.46, and -7.17, respectively, P<0.05). The total burn area, full-thickness burn area, blood lactic acid value within 24 h of admission, serum creatinine value within 24 h of admission, albumin value within 24 h of admission, number of surgeries, and total surgical blood loss volume were correlated with the plasma infusion volume of patients (with r values of 0.39, 0.51, 0.14, 0.28, -0.13, 0.47, and 0.56, respectively, P<0.05).There were statistically significant differences in the red blood cell infusion volume among patients with different gender, combination of inhalation injury, combination of other trauma, combination of pulmonary edema, combination of bloodstream infection, combination of wound infection, combination of lung infection, combination of urinary tract infection, combination of sepsis, occurrence of hemoglobin value <70 g/L, admission to ICU, conduction of mechanical ventilation, and conduction of CRRT (with Z values of -2.00, -4.34, -3.10, -4.22, -8.24, -7.66, -8.62, -4.75, -7.42, -9.36, -6.12, and -8.31, -6.64, respectively, P<0.05). The age, total burn area, full-thickness burn area, blood lactic acid value within 24 h of admission, serum creatinine value within 24 h of admission, total bilirubin value within 24 h of admission, number of surgeries, and total surgical blood loss volume were correlated with the red blood cell infusion volume of patients (with r values of 0.12, 0.22, 0.49, 0.09, 0.18, 0.13, -0.15, 0.69, and 0.77, respectively, P<0.05). Combined underlying diseases, full-thickness burn area, combined pulmonary edema, serum creatinine value within 24 h of admission, combined sepsis, conduction of CRRT, number of surgeries, and total surgical blood loss volume were the independent influencing factors for plasma infusion volume during hospitalization in patients with extensive burns (with standardized regression coefficients of 0.09, 0.16, 0.12, 0.07, 0.11, 0.15, 0.31, and 0.26, respectively, P<0.05). Female, full-thickness burn area, serum creatinine value within 24 h of admission, combined sepsis, occurrence of hemoglobin value <70 g/L, conduction of CRRT, and total surgical blood loss volume were the independent influencing factors for red blood cell infusion volume during hospitalization in patients with extensive burns (with standardized regression coefficients of 0.10, 0.12, 0.10, 0.11, 0.05, 0.19, and 0.54, respectively, P<0.05). There were statistically significant differences in blood loss volume per surgery of patients with different surgical site and wound graft (with Z values of -2.54 and -2.27, respectively, P<0.05). The area of escharectomy or tangential excision and skin graft harvesting and duration of operation were correlated with the blood loss volume per surgery of patients (with r values of 0.40 and 0.21, respectively, P<0.05). The area of escharectomy or tangential excision and skin graft harvesting, duration of operation, and active wound grafts were the independent influencing factors for blood loss volume per surgery of patients with extensive burns (with standardized regression coefficients of 0.41, 0.16, and 0.12, respectively, P<0.05). Conclusions:The major factors influencing blood transfusion status in patients with extensive burns are female, combined underlying diseases, full-thickness burn area, serum creatinine value within 24 h of admission, combined pulmonary edema, occurrence of hemoglobin value <70 g/L, combined sepsis, conduction of CRRT, number of surgery, and total surgical blood loss volume. In addition, the area of escharectomy or tangential excision and skin graft harvesting, duration of operation, and active wound grafts indirectly affect the patient's blood transfusion status by affecting the blood loss volume per surgery.

Objective:To analyze clinical phenotypes and pathogenic mutations of a patient with classic tuberous sclerosis complex.Methods:Clinical data was collected from a patient with classic tuberous sclerosis complex. Next-generation sequencing was performed to screen pathogenic gene variants, and Sanger sequencing to verify the mutations. Minigene plasmids were constructed and transfected into the human renal epithelial cell line 293T, and RNA was extracted for transcriptional analysis.Results:The patient clinically presented with recurrent epileptic seizures, facial angiofibroma, periungual fibroma, pulmonary lymphangioleiomyomatosis, renal angiomyolipoma and multiple osteosclerosis. Next-generation sequencing revealed a suspected pathogenic variant in the TSC2 gene in the patient. Sanger sequencing identified a heterozygous mutation c.336_336+15delGGTAAGGCCCAGGGCG in exon 4 of the TSC2 gene in the patient, but not in his parents or 100 unrelated healthy controls. Moreover, this mutation had not been previously reported. The minigene experiment showed changed mRNA sequence of the TSC2 gene in this patient with loss of the authentic splice site in exon 4 and insertion of a 74-bp intron, which shifted the splice site 90 bp downstream (r.336delins336+16_336+90) .Conclusion:The novel heterozygous mutation c.336_336+15delGGTAAGGCCCAGGGCG in exon 4 of the TSC2 gene can lead to aberrant splicing, and may contribute to tuberous sclerosis complex in this patient.

OBJECTIVES: To investigate the level and significance of serum γ-glutamyl transferase-to-platelet ratio (GPR) and monocyte count to high-density lipoprotein ratio (MHR) in patients with essential hypertension (EH) and unstable angina (UA). METHODS: A total of 218 patients with coronary angiography aged ≥60 years, who were admitted to the EH hospital of the Department of Cardiac Medicine, Affiliated Hospital of Chengde Medical College, were selected from September 2018 to September 2019. They were divided into an EH+UA group ( RESULTS: Compared with the control group, patients in the EH+UA group and the EH group had higher body mass index (BMI), tyiglyceride (TG), GPR, and MHR, and lower high-density lipoprotein-cholesterol (HDL-C) (all CONCLUSIONS There is a correlation between GPR, MHR and EH combined with UA pectoris, and the combined detection of the two indicators has adjuvant diagnostic value for elderly EH combined with UA.
Aged ; Angina, Unstable ; Cholesterol, HDL ; Coronary Angiography ; Essential Hypertension ; Humans ; Lipoproteins, HDL ; Monocytes

OBJECTIVE: To explore the genetic basis for a patient diagnosed with tuberous sclerosis complex (TSC). METHODS: Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect potential variant, and the result was verified by Sanger sequencing. RESULTS: The patient was found to harbor a heterozygous c.1053delG (p.Glu352SerfsX10) frameshifting variant of the TSC2 gene. The same variant was not found in his unaffected parents and 100 unrelated healthy controls. Based on the American College of Medical Genetics and Genomics guidelines, the variant was predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION The novel c.1053delG (p.Glu352SerfsX10) frameshifting variant of the TSC2 gene probably underlay the TSC in this patient.
Genomics ; Heterozygote ; Humans ; Mutation ; Tuberous Sclerosis/genetics* ; Tuberous Sclerosis Complex 2 Protein/genetics*

Objective:To better understand the development of domestic drug clinical trial ethical review related research, and provide possible reference for future studies.Methods:The data were searched and extracted from the databases such as CNKI, WANFANG. Research Papers on Ethical Review of drug clinical trials in China from 2003 to 2020 were reviewed. Bibliometric and visualization method was used to analyze the number of publications, journal categories, authors, key words, et al.Results:336 papers were selected according to the criteria. The number of published papers was increasing slowly during the years. These papers were published in 107 journals, authors from the Affiliated Hospital of Nanjing University of Chinese Medicine participated in the largest publications. Beijing, Jiangsu and Shanghai ranked among the top three in terms of papers published by medical and scientific research institutions. The largest numbers of such paper were published in Chinese Journal of Medical Ethics (53). The most collaborative authors were Xiong Ningning, Liu Haitao, Lu Qi, Wang Xiuqin, Wu Cuiyun. The research hotspots were human subject protection, post-approval management, multi-center clinical trials, pregnant participant, clinical trials involving children, Good Clinical Practice and COVID-19 in recent years. There were about 11 kinds of research funding from provincial level and higher. Conclusions:It is helpful for researchers to understand the knowledge structures, latest progress, seeking for cooperation and communication, improvement and paper submission in their fields of ethical review through bibliometrics and visualization analysis.

Objective:To observe the analgesic effect of local anesthesia combined with nerve block anesthesia on golden microneedles for improving facial aging.Methods:Between December 2018 and December 2019 in Burn and Plastic Surgery of Nanchong Central Hospital, sixty female patients (between 30 and 58 years old, with an average of 45.2 years old) with natural facial skin aging were randomly divided into two groups: Group A: surface anesthesia group (30 cases); Group B: local anesthesia combined with nerve block anesthesia (30 cases). Intraoperative and postoperative pain scores, length of operation, and incidence of adverse reactions were compared between groups A and B.Results:Pain score during surgery was (6.90±0.96) points in Group A, (3.63±0.72) points in Group B. The difference between the two groups was statistically significant ( t=14.93, P<0.05); Pain score at 30 minutes after operation was (2.03±0.62) in Group A, (0.77±0.73) in Group B, the difference between the two groups was statistically significant ( t=7.28, P<0.05). There was no statistically significant difference between the two groups in the pain score at 24 hours after operation ( P>0.05); The operation process in group B was simplified, and the treatment time was significantly shortened. The difference between the two groups was statistically significant ( t=17.93, P<0.05). Conclusions:The method of local anesthesia combined with nerve block anesthesia is used in the treatment of gold microneedles to improve the analgesic effect in facial aging, which significantly shortens the treatment time and has fewer adverse reactions. This method is worth popularizing.

Objective:To investigate the correlation of the gamma-glutamyl transpeptidase to platelet ratio(GPR)and monocyte count to high-density lipoprotein cholesterol(HDL-C)ratio(MHR)with the severity of coronary artery disease in elderly patients with essential hypertension(EH)combined with unstable angina pectoris(UA).Methods:A total of 218 EH patients aged 60 years and over undergoing coronary arteriography admitted to cardiology department of our hospital were enrolled from September 2018 to September 2019.They were divided into the EH plus UA group(n=113)and the simple EH group(n=105)according to whether UA was combined.In addition, 106 patients with normal coronary angiography who were suspected with coronary heart disease were selected as the healthy group.General data of patients between three groups were compared.Severity of coronary artery disease was evaluated using a Gensini score.The correlation of GPR and MHR with coronary Gensini scores was analyzed in the EH plus UA group.Patients in the EH plus UA group were sub-grouped into the single-, double- and triple-vessel disease groups according to the number of disease branches.Differences in coronary Gensini scores, GPR and MHR were compared among subgroups.A receiver operating characteristic(ROC)curve was used to evaluate the auxiliary diagnostic efficacy of GPR, MHR and the combined GPR and MHR in the EH plus UA group.Results:Compared with the healthy group, both EH plus UA group and EH group showed that the BMI(25.8±3.4 kg/m 2, 25.4±3.6 kg/m 2vs.24.2±2.3 kg/m 2), triglyceride(1.9±1.2, 2.0±1.2 vs.1.5±1.1 mmol/L), and MHR(6.6±1.4, 5.8±1.7 vs.4.9±1.7)were increased, and the HDL-C(1.1±0.2 mmol/L, 1.1±0.3 mmol/L vs.1.3±0.3 mmol/L)were reduced( P<0.05), and only EH plus UA group showed that white blood cells(6.7±1.5×10 9/L vs.6.1±1.8×10 9/L), LDL-C(2.3±0.6 mmol/L vs.2.1±0.6 mmol/L)and GPR(0.3±0.1 vs.0.2±0.1)were higher than in the healthy group( P<0.05). Compared with the EH group, the EH plus UA group showed that the GPR(0.3±0.1 vs.0.2±0.1), and MHR(6.6±1.4 vs.5.8±1.7)were increased( P<0.05). The correlation analysis showed that the levels of GPR and MHR were positively correlated with Gensini scores in the EH plus UA group( r=0.537, 0.333, P<0.05), and the correlation was better along with the increased number of diseased branches( P<0.05). The ROC curve analysis showed that GPR had a high specificity and positive predictive value with the specificity of 68.9% and the area under the ROC curve( AUC)of 0.842, while MHR had a high sensitivity with the sensitivity of 92.9%.The combined detection of GPR and MHR had a higher specificity and positive predictive value with a specificity of 84.0% and the AUC of 0.871. Conclusions:The increase of GPR and MHR can be used as a marker to assist the diagnosis of EH combined with UA, and to assess the severity of coronary artery disease in the elderly.

Objective To analyze histopathological and clinical features of dermatofibroma,and to explore the relationship between them.Methods Clinical and histopathological data were collected from 150 patients with histopathologically confirmed dermatofibroma in Department of Pathology,Shanghai Skin Disease Hospital from September 2017 to August 2018,and analyzed retrospectively.Results Among the 150 patients,65 were males,and 85 were females.Their age was 42 ± 13.8 years,and the course of disease ranged from 3 months to 30 years.Some of the patients had concomitant symptoms,mainly manifesting as itching,some had spontaneous pain and mild tenderness,and 18 patients had a history of injury,insect bite or infection at lesion sites.Skin lesions mainly occurred on the extremities (107 cases,71.3％),and most were solitary (105 cases,70％).Before pathological examinations,102 cases were clinically diagnosed as dermatofibroma,16 as epidermoid cyst,13 as pigmented nevus,3 as keloid,12 as skin mass,1 as malignant melanoma,1 as xanthogranuloma,1 as prurigo nodularis,and 1 as neurofibroma.Among 169 hematoxylin and eosin (HE)-stained sections,25 (14.8％) appeared to be consistent with aneurysmal dermatofibroma,66 (39.1％)with cellular dermatofibroma,36 (21.3％) with sclerosing dermatofibroma,and 22 (13.0％)with epithelioid dermatofibroma.Coexistence of two or more subtypes could be seen in 12 sections.There were also a few new variants,such as dermatofibroma with hyperplastic sweat duct (1 case),deep dermatofibroma (3 cases),dermatofibroma with epithelioid cells intermingled with hyperplastic collagen (1 case).The duration of aneurysmal dermatofibroma varied from 7 months to 30 years,and most manifested as skin masses on the lower extremities.A relatively short course of disease was observed in patients with cellular dermatofibroma,who often visited a hospital several months after the onset,and cellular dermatofibroma was commonly observed on the extremities and frequently accompanied with itching and pain.The duration of sclerosing or atrophic dermatofibroma was usually long for years or decades,and it commonly occurred on the upper limbs without concomitant symptoms.Epithelioid dermatofibroma of varied durations had various clinical manifestations,frequently occurred on the lower limbs without concomitant symptoms.Conclusions The clinical and pathological manifestations of dermatofibroma are diverse.Different dermatofibroma lesions can share similar typical histopathological manifestations,and atypical pathological features can interfere with the diagnosis of dermatofibroma.