This article presents a case study of a patient who visited the Geriatric Department of Peking Union Medical College Hospital due to "palpitations, shortness of breath for more than 2 years, limb weakness for 6 months, edema, and nocturnal dyspnea for 2 months". The patient exhibited decreased muscle strength in the limbs and involvement of swallowing and respiratory muscles, alongside complications of heart failure and various arrhythmias which were predominantly atrial. Laboratory tests revealed the presence of multiple autoantibodies and notably anti-mitochondrial antibodies. Following a comprehensive multidisciplinary evaluation, the patient was diagnosed with anti-mitochondrial antibody-associated inflammatory myopathy. Treatment involved a combination of glucocorticoids and immunosuppressants, along with resistance exercises for muscle strength and rehabilitation training for lung function, resulting in significant improvement of clinical symptoms. The case underscores the importance of collaborative multidisciplinary approaches in diagnosing and treating rare diseases in elderly patients, where careful consideration of clinical manifestations and subtle abnormal clinical data can lead to effective interventions.

JCS 2023 Guideline on the Diagnosis and Treatment of Myocarditis offers a new perspective on the definition, classification, epidemiology, pathophysiology, diagnosis, diagnostic, treatment and management of myocarditis. It also provides recommendations to clinicians on the diagnosis and treatment of myocarditis which are more suitable for clinical practice. Given that no myocarditis guidance document has recently been issued in China, this article provides a comprehensive interpretation of the key points of this guideline combined with the latest research, so as to provide reference for the diagnosis and treatment of myocarditis in our country.

OBJECTIVE: To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature. METHODS: Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing. Impact of potential variants was analyzed with bioinformatic software. RESULTS: The child was found to carry compound heterozygous missense variants of the ALPL gene, including c.1130C>T (p.A377V), a known pathogenic mutation inherited from her father, and c.1300G>A (p.V434M) inherited from her mother, which was unreported previously and predicted to be likely pathogenic based on standards and guidelines from the American College of Medical Genetics and Genomics (PM2+PM5+PP3+PP4). CONCLUSION The compound heterozygous variants of c.1130C>T (p.Ala377Val) and c.1300G>A (p.Val434Met) of the ALPL gene probably underlay the disease in this child. Above finding has enriched the spectrum of ALPL gene variants.
Alkaline Phosphatase ; Child ; Female ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Hypophosphatasia/genetics* ; Mutation ; Whole Exome Sequencing

Objective:To investigate the efficacy and safety of cortical-sparing adrenalectomy (CSA) in the treatment of bilateral pheochromocytoma.Methods:The clinical data of 20 patients with bilateral pheochromocytoma treated in Xiangya Hospital of Central South University from January 2004 to December 2019 were analyzed retrospectively, including 10 males and 10 females. The average age of onset was 32.5 (8-51) years. 3 cases had a family history of pheochromocytoma. There were 14 and 6 patients with bilateral synchronous and metachronous onset, respectively. The mean value of vanilmandelic acid (VMA) in 20 cases was (106.4 ± 60.0) μ mol/24h. Preoperative enhanced CT showed a soft tissue mass with uneven enhancement in the adrenal region, with low-density necrosis, which suggested the diagnosis of Pheochromocytoma. All 20 cases underwent CSA under general anesthesia. In 14 cases of bilateral synchronous disease, 9 cases underwent simultaneous operation and 5 cases underwent staged operation; 6 patients with metachronous disease underwent bilateral tumor resection successively. Laparoscopic surgery was performed in 18 cases and open surgery in 2 cases. Through the abdominal or retroperitoneal approach, open the fat capsule around the upper pole of the kidney, free the medial edge of the upper pole of the kidney, expose the adrenal gland and tumor, completely remove the tumor and capsule, ensure that the adrenal tissue is 3-5 mm away from the cutting edge of the tumor, and the reserved cortical size is at least 1 / 3 of the ipsilateral adrenal gland. The central adrenal vein was preserved as much as possible to reduce the damage to the adrenal vascular bed. The operation related data, intraoperative monitoring records, postoperative complications and long-term follow-up results were recorded.Results:All the 20 cases were successfully completed without tumor rupture. The operation time of simultaneous operation and staged operation were (242.3 ± 61.0) min and (137.9 ± 60.3) min, respectively. The number of patients admitted to ICU after operation was 7 and 2, respectively ( P<0.05); The intraoperative bleeding volume was (528.6 ± 355.7) ml and (277.8 ± 264.7) ml, the number of blood transfusion cases were 5 and 2 cases, and the average hospital stay was (7.4 ± 2.0) d and (7.8 ± 3.3) d, respectively ( P>0.05). 20 cases took glucocorticoid orally (prednisone 5 mg, once every 12 hours) after operation. There was no obvious manifestation of adrenocortical dysfunction and Addison's crisis. The hormone was stopped gradually from 2 weeks to 1 month after operation. The average follow-up was 5.4 (1.0-16.0) years. There were 3 cases of recurrence and no metastasis. Gene detection was performed in 10 cases after operation, and 7 cases carried pheochromocytoma RET and VHL pathogenic gene mutations (RET in 2 cases and VHL in 5 cases). Conclusion:Although CSA has a certain risk of recurrence, it avoids hormone replacement and does not increase the risk of metastasis and death. It is recommended for the treatment of hereditary pheochromocytoma, especially bilateral pheochromocytoma.

BACKGROUND: The types and number of day surgery are increasing, what is the result of day surgery of selected patients with lung cancer? To explore the operation process and clinical effect of day surgery in patients with lung cancer by fusing the concept of enhanced recovery after surgery (ERAS) and minimally invasive surgical techniques. METHODS: A prospective study was planned with the approval of our institutional review board. 153 lung cancer patients who underwent anatomic resection in a single medical group between June 2019 and Nov 2019 were randomized. 20 patients were applied day surgery and 28 patients by inpatient surgery and the average length of stay, average hospital cost , complications and adverse reactions were analysed. RESULTS: The average hospital day in DSG group (1 d) was significantly shorter than in ISG group (7.7±2.8) d (P=0.000). The average hospital cost in DSG group (38,297.3±3,408.7)¥ was significantly lower than in ISG group (47,831.1±7,376.1)¥ (P=0.000). There was no significant difference in the incidence of postoperative complications between the daytime surgery group (5.0%) and the inpatient surgery group (3.6%) (P=0.812). The postoperation adverse reactions in DSG (10.0%) and ISG (17.9%) is no difference (P=0.72). CONCLUSIONS Our study showed that the same clinical effect achieved between DSG and ISG, and recover quickly lung cancer patients after day surgery.

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.

OBJECTIVE:To systematically evaluate therapeutic efficacy and safety of Yupingfeng powder in adjavant therapy of allergic rhinitis,and to provide evidence-based reference for clinical treatment. METHODS:Retrieved from Wanfang database,VIP,CJFD,CBM,Cochrane Library,EMBase and PubMed,RCTs about Yupingfeng powder combined with chemical medicine (trial group)vs. chemical medicine alone in the treatment of allergic rhinitis were collected. Meta-analysis was conducted by using Rev Man 5.2 statistical software after data extraction and quality evaluation according to Cochrane system evaluation method 5.1.0. RESULTS:A total of 15 RCTs were included,invovling 1366 patients. The results of Meta analysis showed that response rate [OR=3.95,95%CI(2.80,5.58),P<0.001],recurrence rate [OR=0.37,95%CI(0.22,0.63),P<0.001] and the incidence of ADR [OR=0.15,95%CI(0.06,0.35),P<0.001] in trial group were significantly higher than control group,with statistical significance. CONCLUSIONS:Yupingfeng powder in adjuvant therapy of allergic rhinitis show good therapeutic efficacy and can reduce recur-rence rate with good safety.

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.

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.

Objective To investigate the qualitative diagnosis of salivary gland mass with contrastenhanced ultrasound(CEUS).Methods The CEUS manifestations in 78 cases with salivary gland mass were observed after intravenous bolus injection with contrast agent SonoVue and confirmed by histology.Results Among 78 salivary gland masses,there were 29 cases with pleomorphic adenomas (37.2％),19with Warthin's tumors (24.4 ％),7 with basal cell adenomas (8.9 ％),and 11 with the other benign masses (14.1％),12 with malignant tumors (15.4％).The intensity of contrast-enhanced masses,whether the enhanced mass margin was clear,whether the peripheral enhancement rim was complete and whether the mass was enlarged were the diagnostic criteria to differentiate the benign and malignant tumors.The accuracy,the sensitivity,specificity,positive predictive value and negative predictive value were 87.2％,95.2％,56.3％,89.4％,75.0％ respectively,and the results also displayed positive likelihood ratio and negative likelihood ratio were 2.178,0.085 respectively.Although they presented with the highest incidence among benign tumors,their CEUS manifestations showed remarkable statistical differences when the pleomorphic adenoma was compared with Warthin' s tumor and basal cell adenoma respectively in enhancement intensity(P ＜0.01) while there were no statistical differences between Warthin's tumors and basal cell adenomas (P ＞0.05).Conclusions CEUS manifestations of salivary gland mass were helpful to the differential diagnosis of various salivary gland tumors.