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.

Objective To observe the value of the ratio of cerebral hyperdensities(PCHD)/venous sinus maximum density for predicting hemorrhagic transformation(HT)after endovascular treatment(EVT)in patients with acute ischemic stroke(AIS).Methods Data of 79 AIS patients with PCHD immediately after EVT were retrospectively analyzed.The patients were divided into HT group(n=41)or non-HT group(n=38)based on the presence of HT or not.Clinical data and CT parameters were compared between groups.The value of the ratio of PCHD/venous sinus maximum density for predicting HT was evaluated.Results The maximum density of PCHD and the ratio of PCHD/venous sinus maximum density in HT group were both higher than those in non-HT group(both P＜0.001).Taken 87 HU as the best cut-off value of the maximum density of PCHD,the sensitivity,specificity and area under the curve(AUC)for predicting HT after EVT in AIS patients was 90.24%,71.05%and 0.79,respectively.Taken 0.94 as the best cut-off value of the ratio of PCHD/venous sinus maximum density,the sensitivity,specificity and AUC was 97.56%,71.05%and 0.81,respectively.No significant difference of AUC was found between the former and the latter(P＞0.05).Conclusion The ratio of PCHD/venous sinus maximum density immediately after EVT could be used to predict HT in AIS patients.

BACKGROUND:After the internal fixation of cannulated screws in femoral neck fractures,because the affected limb is often unable to bear weight in the short term and the implants with high stiffness have a stress shielding effect on the fracture end,it is easy to cause osteoporosis of the affected limb and changes in the biomechanical distribution of the proximal femur,the incidence of osteonecrosis of the femoral head is high after surgery.At present,few studies have been conducted on the biomechanical effects of osteoporosis at the proximal end of the femur occurring after femoral neck fracture surgery on femoral neck fracture treated with cannulated screws. OBJECTIVE:Using finite element analysis,to investigate the biomechanical effects of osteoporosis occurring after femoral neck fracture surgery on femoral neck fracture treated with cannulated screws and explore the role of biomechanical factors in osteonecrosis of the femoral head. METHODS:Based on the obtained CT scan data of the femur in a patient with a femoral neck fracture,a proximal femoral model for internal fixation for femoral neck fracture was established by Mimics 19.0,3-Matic,UG 11.0,Hypermesh 14.0,and Abaqus software.One finite element model of the proximal femur without osteoporosis and three finite element models of the proximal femur with osteoporosis were analyzed using Abaqus software.The stress,contact pressure,displacement peak and cloud map under different components of the four models were measured and analyzed,and the internal stress changes and distribution of the femoral head were compared and analyzed. RESULTS AND CONCLUSION:The stresses and contact pressures of the femoral head and lower anterior cannulated screws varied more with the degree of osteoporosis.The peak displacement of the four models increased slowly with the degree of osteoporosis.By one-way analysis of variance,there was no significant effect of the degree of osteoporosis on the peak stress,contact pressure,and displacement of the different components.The internal stress distribution of the femoral head changed with the degree of osteoporosis.Changes in the biomechanical environment of the proximal femur have an important impact on osteonecrosis of the femoral head.

Objective:To investigate clinical features, imaging characteristics, etiology, and potential mechanisms of medullary "comma-shaped" infarctions.Methods:Patients with common-shaped infarction treated at Weihai Central Hospital Affiliated to Qingdao University from January 2020 to September 2023 were retrospectively collected, and their clinical manifestations, imaging findings, treatment, and outcome were analyzed and summarized.Results:A total of 9 patients with medullary common-shaped infarction were enrolled, including 3 males, aged 67.22±14.66 years (ranging from 39 to 83 years). Main clinical symptoms and signs included the decreased pain and temperature sensation on the contralateral limb (66.67%, 6/9), coughing or choking while drinking liquids/dysphagia (66.67%, 6/9), ipsilateral pharyngopalatine muscle paralysis (66.67%, 6/9), and dizziness (66.67%, 6/9). Seven patients (77.78%, 7/9) had severe stenosis or occlusion at the ipsilateral vertebral artery, one (11.11%, 1/9) had occlusion at the left middle cerebral artery, and one (11.11%, 1/9) did not have large vessel stenosis. At 90 days after onset, the follow-up showed that the modified Rankin Scale scores were all <2.Conclusions:Medullary comma-shaped infarctions are rare in clinical practice, its main manifestations include the decreased pain and temperature sensation on the contralateral limb, coughing or choking while drinking liquids/dysphagia, ipsilateral pharyngopalatine muscle paralysis, dizziness, etc. The pathogenesis is mainly hypoperfusion caused by vertebral artery stenosis.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

To summarize the nursing care experience of a case of idiopathic multicentric Castleman's disease TAFRO syndrome complicated with diffuse alveolar hemorrhage.Key points of nursing:prone position ventilation with high blood risk nursing observation and bleeding prevention;early rehabilitation exercise and the reduction of the lymphedema;the optimization of transitional care to avoid unplanned returns to the ICU.The patient was transferred to the respiratory ward for further treatment after 19 days,and 33 days later,she recovered and was discharged.At 1 month of follow-up after discharge,the patient recovered well.

Objective:To investigate the clinical efficacy of neuroendoscopic hematoma removal versus soft channel drainage in the treatment of chronic subdural hematoma. Methods:The clinical data of 102 patients with chronic subdural hematoma who received treatment in Jincheng People's Hospital from May 2018 to May 2020 were retrospectively analyzed. They were divided into the neuroendoscopy group ( n = 50) and the soft channel group ( n = 52) according to different surgical methods. Perioperative indexes, hematoma clearance rate, China Stroke Scale score, the activity of daily living score, and oxidative stress indexes were compared between the two groups. All patients were followed up for 3 months. The incidence of complications during the follow-up period was calculated. Results:The retention time of the drainage tube in the neuroendoscopy group was shorter than that in the soft channel group [(2.45 ± 0.63) days vs. (3.30 ± 0.78) days, t = 6.06, P < 0.001]. The length of hospital stay in the neuroendoscopy group was shorter than that in the soft channel group [(7.14 ± 1.65) days vs. (9.07 ± 2.11) days, t = 5.15, P < 0.001]. The hematoma clearance rate at postoperative 7 days in the neuroendoscopy group was higher than that in the soft channel group [(93.45 ± 5.50)% vs. (81.86 ± 7.24)%, χ2 = 9.12, P < 0.001]. There were no significant differences in operation time and intraoperative blood loss between the two groups (both P > 0.05). At postoperative 30 days, the China Stroke Scale score in the neuroendoscopy group was lower than that in the soft channel group [(12.74 ± 2.23) points vs. (18.67 ± 2.45) points, t = 12.79, P < 0.001]. The activity of daily life score in the neuroendoscopy group was significantly higher than that in the soft channel group [(77.69 ± 7.11) points vs. (91.35 ± 7.25) points, t = 9.60, P < 0.001]. At postoperative 7 days, glutathione peroxidase level in the neuroendoscopy group was significantly lower than that in the soft channel group [(130.75 ± 13.66) U/L vs. (148.60 ± 14.64) U/L, t = 6.37, P < 0.001]. Malondialdehyde level in the neuroendoscopy group was significantly lower than that in the soft channel group [(5.11 ± 0.65) nmol/L vs. (6.19 ± 0.74) nmol/L, t = 7.83, P < 0.001]. Superoxide dismutase level in the neuroendoscopy group was significantly higher than that in the soft channel group [(275.60 ± 22.33) U/L vs. (254.60 ± 18.55) U/L, t = 5.15, P < 0.001]. There was no significant difference in the incidence of complications between the two groups ( P > 0.05). Conclusion:Compared with soft channel drainage, neuroendoscopic hematoma removal can obtain better short-term curative effects and less oxidative stress response in the treatment of chronic subdural hematoma. Neuroendoscopic hematoma removal does not increase the incidence of postoperative complications and is highly safe.

OBJECTIVE: To explore the characteristics of Shwachman-Diamond syndrome (SDS) in Chinese children in order to provide a reference for early diagnosis. METHODS: With Shwachman-Diamond syndrome, SDS, SBDS gene and inherited bone marrow failure as the keywords, the search period was set from January 2002 to October 2022. Relevant literature was retrieved from the Wanfang Database and China National Knowledge Infrastructure (CNKI) database. In addition, by using Shwachman-diamond syndrome as a keyword, the search period was also retrieved from the Web of Science, PubMed, and MEDLINE databases from January 2002 to October 2022. A child with SDS treated at the Tongji Hospital was also included. A total of 44 cases with complete clinical data were analyzed with reference to the International Standard for SDS Diagnosis. Chi-square test and t test were used for statistical analysis. Evidence-based research was carried out in the form of systematic review. The epidemiology, clinical characteristics and key points of early diagnosis of the Chinese SDS children were summarized and compared with the international data. RESULTS: The main characteristics of SDS in Chinese children were summarized as follows: The ratio of males to females was about 1.3 : 1, the median age of onset was 3 months, and the median age of diagnosis was 14 months. The first symptoms were often exocrine pancreatic insufficiency (31.8%) and granulocytopenia with infection (31.8%). According to the international consensus, the incidence rates of the three major diseases of SDS were hemocytopenia (95.4%), pancreatic disease (72.7%), and bone abnormality (40.9%). The common factors underlying SDS disease were variants of the SBDS gene (c.258+2T>C and c.183_184TA>CT), albeit there was no significant correlation between genotype and phenotype (P > 0.05). Compared with international reports, the clinical manifestations and genotypes of Chinese SDS children are different (P < 0.05). CONCLUSION The SDS children have an early age of onset and significant individual difference. It is necessary to analyze the case-related data to facilitate early recognition, diagnosis and clinical intervention.
Female ; Humans ; Male ; Bone Marrow Diseases/therapy* ; China ; East Asian People ; Exocrine Pancreatic Insufficiency/therapy* ; Shwachman-Diamond Syndrome/therapy*

OBJECTIVE: To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamylase deficiency (OTCD). METHODS: Two children with OTCD were selected as the study subjects, and their clinical manifestations, blood ammonia, liver enzymes, growth and development information following the treatment with GPB were retrospectively analyzed. A literature review was also carried out by searching the PubMed database for studies on the GPB treatment for urea cycle disorders. RESULTS: With the GPB treatment, the blood ammonia and liver enzyme level in both patients have decreased to the normal range within 3 months. Motor development in child 2 has improved. No adverse reaction was noted, except for transient palmar greasy smell and loss of appetite in child 1. Analysis of the literature showed that patients had lower ammonia exposure, lower annual incidence of hyperammonemic crisis, more actual protein intake and fewer adverse events during GPB treatment. CONCLUSION GPB is safe and effective for the treatment of OTCD.
Child ; Humans ; Ornithine Carbamoyltransferase Deficiency Disease/drug therapy* ; Phenylbutyrates/therapeutic use* ; Ammonia ; Retrospective Studies

Objective:To investigate the characteristics of gastrointestinal (GI) symptom spectrum in patients with Parkinson′s disease (PD), and to help the early identification of gastrointestinal symptoms and management of PD.Methods:One hundred PD patients in the Department of Neurology, Peking Union Medical College Hospital from January 2017 to August 2017 were enrolled in this study. They were assessed by face-to-face GI dysfunction questionnaire, including eight common symptoms involved in oropharynx, upper and lower digestive tract. The Spearman correlation analysis was performed.Results:The age of PD patients was (61.9±10.5) years, the ratio of male to female was 53∶47 and the disease duration was 4.0 (2.0, 6.0) years. There were 42 cases of Hoehn-Yahr (H-Y) stage 1, 30 cases of H-Y stage 2 and 28 cases of H-Y stage 3 and above (24 cases of H-Y stage 3, three cases of H-Y stage 4 and one case of H-Y stage 5). Totally 58% (58/100) of PD patients had one or more GI symptoms. Constipation (42%, 42/100), dysdefecation (38%, 38/100) and salivation (28%, 28/100) were the top three of most common GI symptoms. Lower GI symptoms were the most common (57%, 57/100), followed by oropharyngeal symptoms (33%, 33/100), and upper GI symptoms (27%, 27/100). GI symptoms could appear in H-Y stage 1 patients, 26.1% (11/42) of which had 1-2 kinds of GI symptoms and over 20% of which had more than three kinds of GI symptoms. A total of 39.3% (11/28) of PD patients with H-Y stage ≥3 had more than three kinds of GI symptoms. The Gastroparesis Cardinal Symptom Index (GCSI) score in patients with upper GI symptoms was 3.0 (2.0,6.5). The constipation symptom score in patients with constipation and dysdefecation was 19.0 (12.0,27.3). As for the clinical type of constipation, 66.7% (38/57) of them were mixed, 21.0% (12/57) were slow transit and 12.3% (7/57) were dysdefecation. In 38.6% (22/57) of the constipated patients, constipation symptoms occurred earlier than PD motor symptoms. Correlation analysis showed that H-Y stage was positively correlated with the course of PD, the number of GI symptoms, salivation, constipation, dysdefecation and constipation symptom scores.Conclusions:Constipation, dysdefecation and salivation were the most common GI symptoms in PD patients. PD patients had at least one GI symptom in the early stage (H-Y stage 1). Lower GI symptoms were more common than oropharyngeal symptoms and upper GI symptoms. With the development of PD, the number of GI symptoms, salivation, constipation and dysdefecation were aggravated, which were important for early symptomatic identification and disease management.