Objective:To explore the efficacy and safety of sirolimus in the treatment of diazoxide unresponsive congenital hyperinsulinism(CHI) and summarize the single-center experience.Methods:A retrospective analysis was conducted on the clinical data of 5 cases of CHI treated with sirolimus after ineffective treatment with diazoxide, admitted to the Children′s Hospital Affiliated to Zhengzhou University from January 2017 to December 2022. The efficacy and safety of sirolimus in the treatment of CHI were evaluated.Results:The study included 5 patients, 3 males and 2 females. The age of onset ranged from 1 to 90 days. Initial symptoms included poor mental state(2/5) and convulsions(3/5). Blood glucose levels were 1.1 to 2.3 mmol/L, and insulin levels ranged from 13.52 to 70.53 μIU/mL. Two cases were classified as diffuse type, and the histological type of 3 cases was unknown. Genetic testing confirmed the diagnosis, with whole-exome sequencing revealing an unreported novel mutation in 1 case(ABCC8 exon 25_28del). Of the five patients, three patients were treated with sirolimus after diazoxide and octreotide failed, one patient was treated after unresponsive diazoxide, and the other one was treated after diazoxide, octreotide, and even near-total pancreatectomy failed. The onset age of sirolimus therapy ranged from 1 to 20 months. The maximum dosage of sirolimus was 1.2-3.2 mg·m -2·d -1, and the duration of medication ranged from 2 to 12 months. One patient was fully responsive to sirolimus, and the other four patients were partially responsive. All patients achieved euglycemia with sirolimus alone or in combination with standard CHI treatment. During follow-up, non-infectious diarrhea, elevated carcinoembryonic antigen, elevated triglycerides, and elevated liver enzymes were observed. Conclusion:This study indicates that sirolimus has a certain degree of efficacy in CHI patients for whom diazoxide treatment is ineffective. However, the long-term efficacy and safety warrant further multicenter trials.

The standardized training of medical specialists in China is far from perfect. The training contents, training system, training methods, supervision and assessment methods need to be improved. The First Clinical College of The First Hospital of China Medical University have guided the trainees to strengthen the study of guidelines and consensus by emphasizing the concept of evidence-based medicine (EBM) of training teachers by means of Sino-U.S. exchanges, case discussions and other ways. At the same time, with the help of the modern network education platform and the problem-based learning teaching mode, the concept of EBM education has been further developed, which greatly enhances the ability of specialists to analyze and solve problems, and improves the training effect.

BACKGROUND: Patients with pulmonary nodules are treated by minimally invasive surgery, and postoperative symptoms have become the main factors affecting patients' emotion and quality of life. This study aimed to analyze the changes of postoperative symptoms in lung cancer patients with pulmonary nodules. METHODS: The clinical data of eighty-eight lung cancer patients admitted to the same medical group of Department of Thoracic Surgery, West China Hospital of Sichuan University from June 2021 to September 2021 were prospectively collected and analyzed. The types and severity of clinical symptoms before operation, on discharge day, 30-day and 90-day after operation were analyzed. RESULTS: The incidence of postoperative symptoms in lung cancer patients was 79.5%, and most patients suffered from mild (54.3%) and moderate (32.9%) symptoms. The main postoperative symptoms of lung cancer patients were pain (55.7%) and cough (37.2%). The incidence of pain at discharge (55.7%) was significantly higher than that at 30-day (23.7%, P=0.01) and 90-day (12.0%, P=0.01) after discharge. The incidence of cough was significantly higher at 30-day (66.1%) and 90-day (66.0%) than that at discharge (37.2%) (P=0.01, P=0.04). CONCLUSIONS The main postoperative symptoms of lung cancer patients with pulmonary nodules are pain and cough. The incidence and severity of pain decreases with time, and the incidence of cough increases but the severity decreased gradually.
Cough/etiology* ; Humans ; Lung Neoplasms/surgery* ; Pain/etiology* ; Pneumonectomy/adverse effects* ; Quality of Life ; Thoracic Surgery, Video-Assisted/adverse effects*

OBJECTIVE: To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity. METHODS: Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results. RESULTS: NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation. CONCLUSION A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.
Brachydactyly ; complications ; DNA Mutational Analysis ; Humans ; Mutation ; Obesity ; complications ; Pedigree

Objective: To observe the treatment of inflammatory myopathy-associatied cardiomyopathy and its impact on prognosis of disease. Methods: In this single-center retrospective study, 29 cases of inflammatory myopathy-associated cardiomyopathy were collected in Peking Union Medical College Hospital from 1999 to 2016. The clinical data and adverse events during follow up were documented. Among 29 patients there were 11 cases of polymyositis, 8 cases of dermatomyositis, 8 cases of overlap syndrome and 2 cases of nonspecific myositis.All the patients started with sufficiene prednisone (1-2 mg·kg^-1·d^-1). 7 cases received intravenous immune globulin, while 12 cases were prescribed with steroid pulse therapy, 16 cases with methotrexate, 15 cases with cyclophosphamide, 6 cases with cyclosporine A, while 11 cases with combination of immune suppressors (methotrexate plus cyclophosphamide or cyclosporine A). After a median follow up of 4.8 years (2 month to 15 years), 14 cases died including 9 of cardiac death. Patients with cardiac deaths had lower usage percentages of intravenous gamma globulin (0 vs. 7/20, P=0.05) and steroid pulse therapy (1/9 vs. 11/20, P=0.043) than controls. Comparing with controls, patients in the group of adverse events were more prone to choose methotrexate alone rather than combination of immune suppressors (all-cause death: 1/14 vs. 8/15, P=0.014; cardiac death: 0 vs. 9/20, P=0.027). Kaplan-Meier survival analysis showed significant difference of survival rates between patients with combination of immune suppressors and controls (Log Rank χ²=6.001, HR=7.58, P=0.014), as well as between patients with β receptor blockers and controls (Log Rank χ²=4.589, HR=2.95, P=0.032). Conclusions We recommend a management strategy that emphasize both primary disease controlling and cardiac remodeling improvement in patients with inflammatory myopathy-associated cardiomyopathy. On the basis of sufficient glucocorticoids, intravenous gamma globulin, steroid pulse therapy, combination of methotrexate plus other immune suppressants, and β receptor blockers were worthy to be considered.

Clinical characteristics were analyzed in a child with very long chain acyl-CoA dehydrogenase deficiency( VLCADD) . The gene analysis was performed in 20 exon all coding regions and 10 bp shear zone in the very long chain acyl-CoA dehydrogenase( VLCAD) gene of the case and his family members by direct sequencing of PCR-DNA from peripheral blood. The results showed that the patient presented with acute onset, clinical manifestations of repeated vomiting, poor spirit, abnormal liver function, increased myocardial enzyme kinase. At the age of one year old, this child was diagnosed with Reye's syndrome for liver injury. Genetic testing results revealed that E14 c. 1349G>A, p. R450H heterozygous mutation in VLCAD gene was found in this case, his mother, and his younger sister, and E15 c. 1532G>A, p. R511Q heterozygous mutation was found in this case and his father. The pathogenic genes of the case are from his mother and the younger sister is a carrier.

Objective: To explore the clinical value of adenosine triphosphate (ATP) stress99mTc-methoxyisobutylisonitrile (99mTc-MIBI) gated myocardial perfusion imaging (G-MPI) for evaluating the severity and region of myocardial ischemia and left ventricular function in patients with myocardial bridge. Methods: A total of 58 patients with CAG or CTA confirmed diagnosis of myocardial bridge received ATP stress99mTc-MIBI G-MPI examination in our hospital. The short and vertical long-axis image of left ventricular myocardium were divided into 13 segments and the radionuclide distribution was semi-quantitatively evaluated into 4 classes by 0-3 scores visually (0: normal, 1: mild reduction, 2: moderate reduction, 3: severe reduction). The summed stress score (SSS) of left ventricular myocardium was calculated, the severity and region of myocardial ischemia were judged and compared with the severity of myocardial bridge. The LVEF obtained by ATP stress 99mTc-MIBI G-MPI was compared with LVEF obtained by cardiac color ultrasound (UCG).Results: The detection rate of myocardial ischemia by ATP Stress 99mTc-MIBI G-MPI and by 24h dynamic ECGwere 82.76% vs 56.10%, P <0.05. ATP Stress 99mTc-MIBI G-MPI presented abnormal radionuclide distribution in258 segments (63.55%) of LAD supplied territory, 82 (47.13%) of LCX supplied territory and 74 (42.53%) of RCAsupplied territory; the ischemic segments in LAD supplied territory were more than those in LCX and RCA suppliedterritories, P <0.0125. The resting LVEF obtained by ATP Stress 99mTc-MIBI G-MPI and by UCG were (69.59 ± 4.13)% vs (63.22 ± 4.12) %, P >0.05 and they had positive correlation (r =0.555, P <0.05).Conclusion: ATP stress 99mTc-MIBI G-MPI could accurately and intuitively evaluate the severity and region ofmyocardial ischemia and left ventricular function in patients with myocardial bridge, it has certain guiding value inclinical practice.

Objective To discuss the effect of comfort nursing in treatment of acute abdomen laparoscopic operation. Methods A total of 86 patients with acute abdomen in the department of general surgery were divided into treatment group and control group. The patients of the treatment group was treated with comfort care, while the patients in the control group used the traditional care. The length of hospitalization ( days) , the length of out-of-bed activities, catheter indwelling time ( h) , complications, cooperation degree and satisfaction level were compared between the two groups. Results The length of hospitalization ( days) , the length of out-of-bed activities and catheter indwelling time (h) were (5. 35 ± 1. 40) d, (10. 44 ± 3. 29)h, (10. 23 ± 3. 70)h in the treatment group lower than (6. 77 ± 1. 19) d, (18. 63 ± 5. 96) h, (14. 67 ± 3. 64) h of the control group (t=5. 95, 7. 89, 5. 21;P<0. 05). The incidence rate of complications, cooperation degree and satisfaction were 4. 65%, 97. 67%, 95. 35% in the treatment group, that all superior to 23. 26%, 65. 12%, 69. 77% in the control group (χ2 =4. 75, 12. 98, 8. 08;P <0. 05). Conclusions Comfort nursing can accelerate the postoperative recovery, reduce the incidences of complications and improve patient satisfaction, which is worth of clinical promoting.

Objective To investigate the value of ATP stress 99Tcm-MIBI G-MPI in evaluating instent restenosis.Methods Seventy-one patients (56 males,15 females,age range:37-83 (60.2±9.5) yeas) who had undergone coronary stent implantation at least 3 months ago,accompanying a typical angina pectoris symptom,were included in this perspective study.All patients underwent ATP stress 99Tcm-MIBI G-MPI and CAG (gold standard) within 1 month.The diagnostic efficiency of ATP stress 99Tcm-MIBI G-MPI on in-stent restenosis was evaluated.Fisher exact probability method was used to analyze data with SPSS 17.0.Results Five patients were excluded because of new stenosis.According to the results of CAG,39 patients with 45 coronary arteries showed in-stent restenosis among 66 patients with 99 coronary arteries.There were 19 patients with myocardial infarction among the 39 patients with in-stent restenosis.Contrarily,there were 16 patients with myocardial infarction among the 27 patients without in-stent restenosis.The diagnostic Se,Sp,Ac,PPV and NPV of ATP stress 99Tcm-MIBI G-MPI for in-stent restenosis were 85％(33/ 39),89％(24/27),86％ (57/66),92％ (33/36) and 80％ (24/30),respectively in 66 patients.Those were 79％(15/19),88％(14/16),83％(29/35),88％(15/17) and 78％(14/18) in patients with myocardial infarction,and 90％ (18/20),91％ (10/11),90％ (28/31),95％ (18/19) and 83％ (10/12) in patients without myocardial infarction (all P＞0.05).Conclusion ATP stress 99Tcm-MIBI G-MPI has high diagnostic efficiency in evaluating in-stent restenosis.

OBJECTIVETo promote the diagnostic accuracy of salivary Warthin's tumor by summarizing the ultrasonographic features of salivary Warthin's tumor.

METHODSSixty-nine lesions (58 patients with salivary Warthin's tumor) were retrospectively studied by ultrasonography and confirmed by histopathology.

RESULTSThe ultrasonographic manifestations of salivary Warthin's tumor demonstrated in three patterns.Type I: Solid mass(34 lesions, 49.3%), the mass was solid, grid-shaped echo inside. The mass was pathologically composed of such various tissues as epithelial cells, lymphatic organization, fibrous tissue which were compactly and evenly arranged, and little mucous formed the cyst cavity in which there projected epithelial papilla. Type II: Cystic-solid mixed mass(30 lesions, 43.5%), there was no flake-like echo, cystic-solid boundary was clear. Histopathological study revealed glandular epithelium made up irregular catheter and cyst cavity with yellowish mucous, glue-frozen-like stuff or brown colloidal substances. Type III: Cystic mass (5 lesions, 7.2%), the mass manifested separated cystic echo crumbs. The histopathological study showed salivary Warthin's tumor with infarctions and infections. The coincidence of ultrasound and histopathology diagnose was 79.7%.

CONCLUSIONThe ultrasonographic features of salivary Warthin's tumor are mainly based on the organization of histopathological study. The grasp of various ultrasonographic imagings and pathological changes is beneficial for increasing the accuracy rate of diagnosis higher.