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.

To investigate the clinical value of cardiac magnetic resonance feature tracking (CMR-FT) technology in the assessment of the right ventricle function in patients with immune checkpoint inhibitor (ICIs)-related myocarditis.

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.

To improve the standard screening, diagnosis, and treatment of hypertension in patients in China; realize the standardization of clinical practice of hypertension; and improve the prevention and control level of hypertension in China, it is both important and necessary to develop a clinical practice guideline for hypertension according to a recognized methodology. Jointly sponsored by the National Center for Cardiovascular Diseases, Chinese Medical Doctor Association, Hypertension Committee of the Chinese Medical Doctor Association, Chinese Society of Cardiology, and Hypertension Committee of Cross-Straits Medicine Exchange Association, the "Chinese Clinical Practice Guidelines of Hypertension" was proposed. Research Unit of Evidence-Based Evaluation and Guidelines, Chinese Academy of Medical Sciences, Guideline and Standards Research Centre of Chinese Medical Association Publishing House, Lanzhou University Institute of Health Data Science, and Lanzhou University GRADE Center will provide methodological support for the guidelines.

To improve the standard screening, diagnosis, and treatment of hypertension in patients in China; realize the standardization of clinical practice of hypertension; and improve the prevention and control level of hypertension in China, it is both important and necessary to develop a clinical practice guideline for hypertension according to a recognized methodology. Jointly sponsored by the National Center for Cardiovascular Diseases, Chinese Medical Doctor Association, Hypertension Committee of the Chinese Medical Doctor Association, Chinese Society of Cardiology, and Hypertension Committee of Cross-Straits Medicine Exchange Association, the "Chinese Clinical Practice Guidelines of Hypertension" was proposed. Research Unit of Evidence-Based Evaluation and Guidelines, Chinese Academy of Medical Sciences, Guideline and Standards Research Centre of Chinese Medical Association Publishing House, Lanzhou University Institute of Health Data Science, and Lanzhou University GRADE Center will provide methodological support for the guidelines.

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.

Left atrial dissection is a rare complication of mitral valve replacement surgery. Here, a case of left atrial dissection followed by mitral valvular obstruction was presented. It is suspected that the dissection was caused by trematodiases infection. Cardiac surgery was finally performed, which not only confirmed the diagnosis but also acted as an effective treatment. Especially, surgery is of essential value to confirm the perforation locating at the basal posterior wall of the left ventricle, to repair the atrial dissection, and to relieve the mitral valvular obstruction.

Left atrial dissection is a rare complication of mitral valve replacement surgery. Here, a case of left atrial dissection followed by mitral valvular obstruction was presented. It is suspected that the dissection was caused by trematodiases infection. Cardiac surgery was finally performed, which not only confirmed the diagnosis but also acted as an effective treatment. Especially, surgery is of essential value to confirm the perforation locating at the basal posterior wall of the left ventricle, to repair the atrial dissection, and to relieve the mitral valvular obstruction.

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.