中华内科杂志最新文献

This report describes the case of a 43-year-old male presenting with severe anemia (hemoglobin, HGB 35 g/L). A comprehensive evaluation encompassing bone marrow morphology (24% ring sideroblasts), genetic testing (SF3B1-negative), iron metabolism studies (ferritin 1 179 μg/L), and imaging (liver MRI T2* value 1.1 ms) was performed for diagnosis, treatment planning, and assessment of outcomes. Initially diagnosed as having myelodysplastic syndrome with ring sideroblasts (MDS-RS), the patient experienced relapse after 10 months of luspatercept treatment. Following the identification of a significant retrospective history of heavy alcohol consumption (250 g/day for 20 years), vitamin B₆ therapy resulted in a rapid increase in HGB to 85 g/L within 10 days, reaching 134 g/L after one month, confirming a diagnosis of alcohol-induced sideroblastic anemia (SA). This case highlights that in SA lacking clonal evidence, the exclusion of reversible causes such as alcoholism should be prioritized. While luspatercept demonstrated short-term efficacy in this patient with non-clonal SA, caution is warranted regarding potential masking of the underlying etiology. Concurrent monitoring of iron overload and early initiation of iron chelation therapy are crucial in alcoholic SA to prevent hepatic damage.

Clinical data of two patients with X-linked adrenoleukodystrophy (X-ALD) initially presenting as Addison's disease were collected from the Department of Endocrinology, First Medical Center of Chinese PLA General Hospital. Relevant medical history, clinical features, laboratory tests, and genetic results were analyzed. The two male patients, aged 7 years (case 1) and 15 years (case 2), initially presented with generalized skin hyperpigmentation, without any family history of similar disorders. Both had normal growth and development, and adrenal CT and brain MRI revealed no significant abnormalities. Elevated very long-chain fatty acid (VLCFA) levels were detected. Genetic analyses identified a maternally inherited missense mutation (c.830G>A, p.Gly277Glu) in the ATP-binding cassette subfamily D member 1 (ABCD1) gene in case 1, and a missense mutation (c.1499G>T, p.Gly500Val) in case 2. Protein structural predictions indicated both mutations as potentially damaging or damaging, and both were classified as likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) criteria (PM1/PM2/PP3_Moderate and PM2/PP3_Moderate/PM6, respectively), supporting their correlation with the clinical phenotype. Clinicians should maintain vigilance for X-ALD in male patients presenting with Addison's disease, and combined VLCFA and genetic testing can effectively prevent misdiagnosis or delayed diagnosis.

Objective: To investigate multi-system involvement in Kennedy's disease and its association with disease progression. Methods: We retrospectively reviewed the clinical, laboratory, and electrophysiological data from 48 genetically confirmed patients with Kennedy's disease at the Department of Neurology, First Medical Center of the Chinese PLA General Hospital, between February 2016 and February 2024. The disease progression rate was calculated based on the functional scores at baseline and follow-up. Correlation analyses and multiple linear regression models were employed to assess the relationships among clinical variables and to identify potential predictors of disease progression. Results: The age of muscle weakness onset ranged from 16 to 66 years (mean 42±11 years), with a diagnostic delay of 5.0 (3.0, 9.8) years. Lower limb weakness was the most common initial symptom in 72.9% (35/48) of patients, and 37.5% (18/48) exhibited non-motor manifestations prior to the onset of weakness. Core motor manifestations included bulbar weakness (89.6%, 43/48) and symmetric proximal limb weakness (83.3%, 40/48), frequently accompanied by gynecomastia (74.2%, 23/31) and sexual dysfunction (64.6%, 31/48). The median CAG repeat length was 43 (42, 46), which showed a significant negative correlation with the age at onset (r=-0.406, P=0.004). Patients with CAG repeats > 43 had a higher prevalence of sexual dysfunction. Elevated serum muscle enzymes were observed in 97.9% (47/48), and abnormal sex hormone levels were detected in 81.2% (39/48). Sensory neuropathy was present in 68.1% (32/47), with CAG repeat length inversely correlating with compound muscle action potential (CMAP) amplitudes in the median (β=-0.29; t=-2.27, P=0.029) and ulnar (β=-0.22; t=-2.23, P=0.031) nerves. Low-frequency repetitive nerve stimulation (RNS) revealed a decrement in 43.3% (13/30) of patients, most commonly affecting the axillary and spinal accessory nerves. The disease progression rate was 1.3±0.3 (range: 0.5-2.0). Furthermore, serum creatine kinase-MB (CK-MB) levels were negatively correlated with disease progression rate (r=-0.303, P=0.036). Conclusions: Kennedy's disease presents with diverse initial manifestations and frequent multi-system involvement. Non-motor manifestations may precede muscle weakness, serving as valuable clues for early diagnosis. Widespread sex hormone abnormalities (particularly testosterone/luteinizing hormone dysregulation) support the role of androgen insensitivity in disease pathogenesis. Sensory neuropathies are frequent and not length-dependent. The presence of decremental responses on low-frequency RNS suggests neuromuscular junction dysfunction, which may underlie motor impairment in patients with Kennedy's disease. Finally, serum CK-MB may serve as a potential biomarker for disease progression.

A retrospective analysis was conducted on 26 patients with relapsed and refractory multiple myeloma (RRMM) who were treated with carfilzomib-based regimens at Beijing Chaoyang Integrative Medicine Rescue and First Aid Hospital from July 2021 to May 2024. The median number of treatment cycles was 5 (range, 2-8). The overall response rate was 53.8% (14/26). The median follow-up duration was 9.5 months, and the median progression-free survival (PFS) was 8.6 months (range, 1.7-25.2 months). Patients without plasmacytoma recurrence (n=17) had a PFS of 12.3 months. In contrast, patients with plasmacytoma recurrence (n=9) had a PFS of 6.2 months. The difference in PFS between these two groups was statistically significant (P=0.013). Age (over 65 vs. 65 or younger), and treatment line (more than three vs. three or fewer) did not significantly affect treatment efficacy (all P>0.05). Common adverse reactions of grade 3 or higher included hematologic adverse reactions in 10 cases, which improved with symptomatic treatment. Non-hematologic adverse reactions included pulmonary infection (2 cases), renal failure (1 case), and heart failure (1 case). In conclusion, carfilzomib-based regimens demonstrate good clinical efficacy and manageable safety in the treatment of RRMM.

Coronary artery disease (CAD), one of the most common cardiovascular diseases (CVD), poses a serious threat to physical and mental health, resulting in a severe disease burden. Psychocardiology medicine focuses on the vital role of psychological factors in the development, diagnosis, and treatment of CVD. The prevalence of depression and anxiety is high in patients with CAD. Furthermore, there is a vital interplay among depression, anxiety, mental stress-induced myocardial ischemia, cognitive impairment, and delirium. Both cognitive impairment and delirium adversely impact the prognosis of patients with CAD, warranting increasing attention and the development of interventions. To further direct the clinic diagnosis and treatment of cognitive impairment in patients with CAD complicated with depression and anxiety, and to thus improve the prognosis of such patients, the Psychocardiology Medicine Branch of Chinese Medical Association Beijing Branch, and Psychocardiology Education Professional Committee of China Medical Education Association, together with over 40 other organizations, including more than 50 experts from several related fields, have developed the association standards on guidelines for the cognitive clinical diagnosis and treatment of CAD complicated with depression and anxiety under the framework of the China standard association (No.T/CAS 812-2024).

Objective: To analyze the clinical characteristics of immune checkpoint inhibitor (ICI)-induced type 1 diabetes (T1D). Methods: This was a retrospective case series study of clinical data from 24 patients with ICI-T1D admitted to People's Hospital of Henan Provincial between January 2018 and December 2024. The data collected included demographic characteristics, ICI usage, clinical manifestations, laboratory test results, and clinical outcome. Patients were categorized into mild and severe groups based on disease severity. Clinical characteristics between the two groups were compared using the Mann-Whitney U test. Results: Of the 24 patients, 21 (87.5%) were male and 3 (12.5%) were female, with an average age of (62.0±10.6) years. Patients in the severe disease group were significantly older than those in the mild disease group [(68.0±9.5) years vs. (58.4±9.8) years, P<0.05]. Compared to patients with mild disease, those with severe disease had significantly higher rates of impaired consciousness (9/9 vs.2/15), shorter ICI treatment cycles [3 (2, 6) vs. 6 (5, 8)], shorter time from ICI initiation to diabetes diagnosis [68 (31, 168) d vs. 162 (135, 235) d], and shorter time from the onset of diabetes symptoms to medical consultation [4 (2, 5) d vs. 8 (4, 26) d] (all P<0.05). The severe disease group also showed significantly higher blood glucose levels [43.0 (39.1, 57.3) mmol/L vs. 24.6 (19.6, 29.6) mmol/L] and a lower glycated hemoglobin level [6.8% (6.3%, 7.6%) vs. 7.9% (7.6%, 8.6%)], along with a higher incidence of fulminant T1D (8/9 vs. 2/15, all P<0.05). All patients received insulin injection therapy. After discharge, fasting C-peptide levels in 3 patients with mild disease showed a transient increase to 0.26, 0.43, 0.49 nmol/L but declined again after six months. Conclusions: ICI-T1D is characterized by acute onset and rapid progression. Older patients are more likely to develop severe disease. All patients require insulin therapy.