it was 4% (3/75). GP73-positive rate in HCC was higher than that of the normal liver tissues (χ2=73.60, P<0.05). sCLU-positive rate in HCC was also higher than that of the normal liver tissues (χ2=207.94, P<0.05). GP73 expression was positively correlated with sCLU expression in HCC (r=0.405, P<0.05). GP73 and sCLU were associated with clinicopathological features including tumor differentiation, TNM stage and vascular invasion (P<0.05); GP73 and sCLU had no correlation with the patient’s gender, age, HBsAg, cirrhosis, AFP value, portal vein thrombosis and tumor numbers (P>0.05). GP73 was associated with survival but not sCLU. Conclusion:GP73 and sCLU have higher positive rates in HCC and GP73 is positively correlated with sCLU. The expression of GP73 and sCLU are probably closely related with the invasion of HCC, which can help evaluate the prognosis of the patients.

Objective To measure the placing position error of different body position by analog positioning machine in patients with different body mass index (BMI) during radiotherapy for rectal cancer, then calculate the clinical target volume (CTV) to plan target volume (PTV) margins (Mptv). Methods Thirty-six patients with rectal cancer were selected, and the patients were divided into vacuum bag group (18 cases) and routine belly board group (18 cases) according to method of placing position. The BMI was calculated. Each patient was treated with positive and lateral position X-ray film before treatment and once a week during the radiotherapy. The data were contrasted with digitally rendered radiographs (DRR) of three-dimensional conformal radiotherapy plan system, then the placing position error on X, Y and Z axis was calculated, and the Mptv on X, Y and Z axis of patients with different BMI was calculated. Results The placing position error on X, Y and Z axis gradually increased with the increase of BMI in vacuum bag group and routine belly board group, and there were statistical differences (P<0.01 or <0.05). The Mptv on X, Y and Z axis in patients with normal BMI were 4.60, 5.51 and 5.29 mm respectively. The Mptv on X, Y and Z axis in patients with overweight were 5.48, 6.81 and 6.16 mm respectively. The Mptv on X, Y and Z axis in patients with obesity were 8.92, 8.59 and 7.02 mm respectively. Conclusions The rectal cancer patients with overweight and obesity have more placing position error. The influence of BMI should be considered when the patient's Mptv is determined.

Objective To evaluate the clinical value of ankle arthroscopy in diagnosis and treatment of Danis-Weber type B ankle fracture associated with injury to the distal tibiofibular syndesmosis.Methods A retrospective study was conducted of the 35 patients who had been treated at Department of Orthopaedics,Ruijin Hospital North for Danis-Weber type B ankle fracture from February 2014 to December 2016.They were 23 males and 12 females,with an average age of 43.1 years (from 18 to 65 years).Each of them underwent 4 examinations to detect whether injury to the distal tibiofibular syndesmosis was complicated or not:preoperative CT and MRI,C-ann roentgenography and ankle arthroscopy before and after internal fixation of the ankle.The diagnostic rates of the complicated injury by the 4 examinations were compared.The patients complicated with injury to the distal tibiofibular syndesmosis received surgical repair of the injury using TightRope in addition to internal fixation of the ankle,and injury to the deltoid ligament was repaired simultaneously using 3.5 mm anchor nails in case the injury was concomitant.The repair and stability of the distal tibiofibular syndesmosis were observed using ankle arthroscopy again.Results The Cotton and external rotation tests under C-arm roentgenography before surgery and after internal fixation of the ankle demonstrated that 13 cases were complicated with injury to the distal tibiofibular syndesmosis.Of the other 22 patients who had not been diagnosed with the injury by C-arm roentgenography,6,13 and 11 were diagnosed with the injury respectively by CT,MRI and ankle arthroscopy.The diagnostic rates of Danis-Weber type B ankle fracture associated with injury to the distal tibiofibular syndesmosis were 37.1％ (13/35),54.3％ (19/35),74.3％ (26/35) and 68.6％ (24/35) respectively by C-arm roentgenography,CT,MRI and ankle arthroscopy.In the sensitivity to the injury,MRI ＞ ankle arthroscopy ＞ CT ＞ C-arm roentgenography,with significant differences between them (P ＜ 0.05).The ankle arthroscopy confirmed the repair efficacy in the 24 patients complicated with injury to the distal tibiofibular syndesmosis and negative results of Cotton and external rotation tests in them.Additionally,ankle arthroscopy revealed 16 cases of injury to the deltoid ligament at the medial ankle.Conclusions Ankle arthroscopy can provide evidence for correct diagnosis and treatment of Type B ankle fracture complicated with injury to the distal tibiofibular syndesmosis,because it allows direct observation of the medial deltoid ligament of the ankle and the distal tibiofibular syndesmosis.It can be also used to assess the stability of the tibiofibular syndesmosis after repair of the injury.

OBJECTIVE: To improve the recognition of Familial glucocorticoid deficiency type 1 (FGD1) due to variants of melanocortin 2 receptor (MC2R) gene. METHODS: Two children with FGD1 diagnosed at the Henan Children's Hospital respectively in 2019 and 2021 were selected as the study subjects. Clinical data, treatment, follow-up and results of genetic testing were collected and retrospectively analyzed. RESULTS: Whole exome sequencing revealed that both children had harbored compound heterozygous variants of the MC2R gene, including c.433C>T (p.R145C) and c.710T>C (p.L237P) in child 1, and c.145delG (p.V49Cfs*35) and c.307G>A (p.D103N) in child 2, among which c.710T>C (p.L237P) and c.145delG (p.V49Cfs*35) were unreported previously. CONCLUSION FGD1 is clinically rare, and genetic sequencing is crucial for the definite diagnosis. Discovery of the and novel variants has enriched the mutational spectrum of the FGD1 gene.
Humans ; Child ; Glucocorticoids/therapeutic use* ; Receptor, Melanocortin, Type 2/genetics* ; Retrospective Studies ; Adrenal Insufficiency/genetics* ; Mutation

Objective:To investigate the clinical features and outcomes of adolescence-onset methylmalonic acidemia (MMA) and explore preventive strategies.Methods:This was a retrospective case analysis of the phenotypes, genotypes and prognoses of adolescence-onset MMA patients. There were 55 patients diagnosed in Peking University First Hospital from January 2002 to June 2023, the data of symptoms, signs, laboratory results, gene variations, and outcomes was collected. The follow-ups were done through WeChat, telephone, or clinic visits every 3 to 6 months.Results:Among the 55 patients, 31 were males and 24 were females. The age of onset was 12 years old (range 10-18 years old). They visited clinics at Tanner stages 2 to 5 with typical secondary sexual characteristics. Nine cases (16%) were trigged by infection and 5 cases (9%) were triggered by insidious exercises. The period from onset to diagnosis was between 2 months and 6 years. Forty-five cases (82%) had neuropsychiatric symptoms as the main symptoms, followed by cardiovascular symptoms in 12 cases (22%), kidney damage in 7 cases (13%), and eye disease in 12 cases (22%). Fifty-four cases (98%) had the biochemical characteristics of methylmalonic acidemia combined with homocysteinemia, and 1 case (2%) had the isolated methylmalonic acidemia. Genetic diagnosis was obtained in 54 cases, with 20 variants identified in MMACHC gene and 2 in MMUT gene. In 53 children with MMACHC gene mutation,1 case had dual gene variants of PRDX1 and MMACHC, with 105 alleles. The top 5 frequent variants in MMACHC were c.482G>A in 39 alleles (37%), c.609G>A in 17 alleles (16%), c.658_660delAAG in 11 alleles (10%), c.80A>G in 10 alleles (10%), c.567dupT and c.394C>T both are 4 alleles (4%). All patients recovered using cobalamin, L-carnitine, betaine, and symptomatic therapy, and 54 patients (98%) returned to school or work.Conclusions:Patients with adolescence-onset MMA may triggered by fatigue or infection. The diagnosis is often delayed due to non-specific symptoms. Metabolic and genetic tests are crucial for a definite diagnosis. Treatment with cobalamin, L-carnitine, and betaine can effectively reverse the prognosis of MMA in adolescence-onset patients.

Objective: To investigate clinical value of ankle arthroscopy in diagnosis of type Danis-Weber B ankle fracture with the distal tibiofibular syndesmosis injury. Methods: From August 2014 to January 2018, a total of 52 cases of type Danis-Weber B ankle fractures with an average age of 35.37±11.19 years, including 31 males and 21 females were treated. Each patient underwent preoperative assessment, according to the patient's clinical manifestations and imaging examination before operation. The Cotton test and the external rotation test were conducted in the C arm X-ray to evaluate whether there is the distal tibiofibular syndesmosis injury. All fractures were treated with open reduction and internal fixation. Repair was conducted with 3.5 mm wire anchor and nail for triangular ligament injury. The Cotton test and external rotation test were performed under ankle arthroscopy. The injury of the lower tibiofibular syndesmosis was observed and evaluated by cotton test and external rotation test in patients who were found to be associated with lower tibiofibular joint injury. After internal fixation of fracture and repair of tibiofibular syndesmosis injury with TightRope, the repair effects of tibiofibular syndesmosis injury was observed under direct vision of ankle arthroscopy. The VAS score, AOFAS score and Baird-Jackson score was used as an index to observe the pain and ankle function before and after operation for 12 months follow-up. Results: Preoperative X-ray showed 19 cases of lower tibiofibular joint injury. Preoperative CT showed 28 cases of lower tibiofibular joint injury. Preoperative MRI showed 39 cases of lower tibiofibular joint injury. A total of 36 cases of joint injury of lower tibiofibular syndesmosis were confirmed under arthroscopy of ankle. After repair of tibiofibular syndesmosis injury with TightRope, complete reduction and stability of inferior tibiofibular syndesmosis were confirmed under ankle arthroscopy. At 12 months after operation, the VAS score decreased from 8.13±1.32 points preoperation to 0.75±0.73 points after operation. The AOFAS and Baird-Jackson scores increased from 26.59±3.35 points, 16.44±3.63 points preoperation to 94.36±3.03 points, 90.29±6.45 points after operation, respectively. There was significant difference before and after operation (P<0.05). The postoperative VAS score, AOFAS score and Baird-Jackson score of 16 patients without lower tibiofibular ligament injury were confirmed in the ankle arthroscopy group, namely 0.58±0.67 points, 95.27±4.67 points, 91.98±9.23 points. Conclusion Ankle arthroscopy can be used to observe the injury of tibiofibular syndesmosis under direct vision. The positive rate of diagnosis of inferior tibiofibular syndesmosis injury was 69.2% (36/52). It can provide reliable evidence for correct diagnosis and treatment of type Danis-Weber B ankle fracture with lower tibiofibular joint injury with significant meaning in selecting operative methods and in evaluating the effect of lower tibiofibular ligament repair.

Objective To explore the clinical features of critical cases of coronavirus disease 2019 (COVID-19). Methods The clinical data of nine patients who were diagnosed with critical COVID-19 in Hainan General Hospital from January 21, 2020 to February 6, 2020 were retrospectively analyzed. RT-PCR testing for 2019 novel coronavirus (2019-nCoV) was performed with multi-sites synchronize specimens including pharyngeal swab, blood, excrement, and urine. The serum levels of leucocyte, C-reactive protein, procalcitonin and lactic acid between the improved group (five cases) and the deteriorated group (four cases) were compared. The t test was used for comparison of normally distributed continuous data between groups. Results There were eight males (88.9%) and 1 female enrolled. The patients aged 28-77 years old, with an age of (52.9±18.0) years. By March 4, 2020, all five cases in improved group were cured and discharged, three cases in deteriorated group died and 1case remained in critical condition. All multi-sites specimens of patients in improved group turned negative in 2-4 weeks of illness onset, while those of cases in deteriorated group showed sustained viral nucleic acid positive (up to 48th day of illness onset). The white blood cell counts ((13.52±8.24)×10 9 /L vs (10.49±4.46) ×10 9 /L), C-reactive protein ((139.71±87.46) mg/L vs (78.60±55.40) mg/L) and procalcitonin ((2.32±4.03) ng/mL vs (0.28±0.58) ng/mL) , lactic acid ((3.70±4.14) mmol/L vs (2.33±0.53) mmol/L) in deteriorated group were all significantly higher than those in improved group ( t =2.908, 5.009, 4.391 and 2.942, respectively, all P <0.01). A rapid rise of serum IL-6 level up to 8 500 pg/mL was observed in one patient three days prior to death. Conclusion Among the patients with critical COVID-19, serum levels of inflammatory cytokines of the death cases are higher than those of improved and discharged cases.