中华内科杂志最新文献

Antiphospholipid antibodies (aPLs) are a group of autoantibodies that target phospholipids and/or phospholipid-binding proteins. aPLs are serum markers for antiphospholipid syndrome (APS) and are crucial indicators for predicting risks and managing anticoagulant therapy in APS and aPLs related diseases. Developing clinical guidelines for aPLs in China can further standardize laboratory testing and improve the ability to interpret results, thereby playing a critical role in enhancing the diagnostic, treatment, and management capabilities of clinicians involved in APS. National Clinical Research Center for Rheumatic and Autoimmune Diseases, collaborating with Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, China Rheumatism Data Center, Chinese Systemic Lupus Erythematosus Treatment and Research Group, strictly adhering to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system and the reporting items for practice guidelines in Healthcare (RIGHT) checklists. This guideline includes 10 recommendations on the clinical application of aPLs, aiming to standardize their clinical use and laboratory testing, and to provide references for the clinical diagnosis, treatment, and management of APS and aPLs related diseases.

Chronic insomnia frequently co-occurs with common neuropsychiatric disorders, including migraine, stroke, Alzheimer's disease, Parkinson's disease, epilepsy, generalized anxiety disorder, depressive disorder, body distress disorder, post-traumatic stress disorder, and disorders due to use of alcohol. The prevalence of these neuropsychiatric disorders is hiher among patients with chronic insomnia than in the general population, and the conditions mutually exacerbate each other. Comorbidities not only exacerbate the severity and increases the relapse risk of each condition but also lead to a poorer prognosis, more severe impairment of social functioning, a higher all-cause mortality risk, and greater treatment challenges. Therefore, the Sleep Disorders Group, Chinese Society of Neurology and Sleep Medicine Group,China Neurologist Association have convened experts in relevant fields, based on current medical evidence, to establish guideline for the management of Chinese adults with chronic insomnia comorbid with the aforementioned 10 categories of common neuropsychiatric disorders. The aim is to standardize clinical practice and improve treatment effectiveness and cure rates.

A case of primary biliary cholangitis (PBC) complicated with hypoglycemia admitted to the Department of Endocrinology, the Eighth Medical Center of the Chinese PLA General Hospital in March 2024. The patient was a 76-year-old man with a history of episodic consciousness disturbance for 8 months. The clinical presentation was characterized by central nervous system suppression consistent with hypoglycemia, with symptoms alleviating after glucose supplementation. At a plasma glucose level of 1.86 mmol/L, the insulin concentration was 79.8 pmol/L, and the C-peptide concentration was 1.49 nmol/L, suggestive of endogenous hyperinsulinemic hypoglycemia. Autoantibody testing showed positivity for anti-mitochondrial antibody M2, anti-centromere B protein antibody, and anti-soluble acidic nuclear protein 100 antibody. The diagnosis of PBC was confirmed by liver histopathology. After comprehensive exclusion of insulinoma, insulin autoimmune syndrome (IAS), and other endocrine and metabolic diseases, the hypoglycemia was attributed to hepatogenic hypoglycemia secondary to PBC. The hypoglycemic symptoms resolved after treatment with ursodeoxycholic acid and dietary modifications. A simultaneous literature review identified three relevant reports describing three cases of PBC-related hypoglycemia. The etiology was IAS in two cases, which resolved with glucocorticoid therapy, and autoimmune hepatitis in one case, which was treated with liver transplantation. While rare, PBC-associated hypoglycemia warrants clinical attention. The possibility of PBC should be considered in the differential diagnosis of unexplained hypoglycemia to improve diagnostic accuracy and treatment outcomes.

A retrospective analysis was conducted on the clinical data of a patient with adrenal hemangioblastoma (HB), pathologically confirmed at the First Medical Center of Chinese PLA General Hospital. A review of the literature relating to adrenal HB was also undertaken. The patient was a 36-year-old male in whom a right adrenal mass was incidentally detected during a physical examination. The mass measured approximately 4.7 cm×4.2 cm and had a CT attenuation value of approximately 55 HU. MRI showed an irregular mass with a slightly long T1, mixed long/short T2 signals, mildly high signal intensity on diffusion weighted imaging, and a slightly low signal on apparent diffusion coefficient. No signal drop was observed on opposed-phase imaging. Dynamic contrast-enhanced scanning revealed progressive, marked enhancement. ⁶⁸Ga DOTATATE PET-CT demonstrated a slightly hypodense mass in the right adrenal gland (maximum standardized uptake value 17.3). Functional evaluation showed an elevated chromogranin A (CgA) level of 294.64 pmol/L (normal range: 64-204 pmol/L), with no other abnormalities detected. The preoperative diagnosis was pheochromocytoma, and the patient underwent surgery after adequate preoperative preparation with phenoxybenzamine hydrochloride. Immunohistochemical results-S-100 (focal weak+), melan-A (-), inhibin-α (partial+), FLI-1 (+), CK (-), Syn (partial+), CgA (-), Ki67 (2%+), CD34 (+), CD31 (+), and desmin (-)-confirmed the diagnosis of adrenal HB. Genetic testing detected no VHL gene mutation. No recurrence or metastasis was observed during more than two years of follow-up. A review of the literature revealed that this was the first reported case of adrenal HB in China. Globally, only six cases have been reported to date, four of which were clearly related to von Hippel-Lindau syndrome. Adrenal HB is exceptionally rare and lacks characteristic clinical manifestations. Significant enhancement of the solid component with flow-void vessels on MRI is considered a relatively distinctive imaging feature. Definitive diagnosis relies on pathology and immunohistochemistry. Surgical resection remains the primary treatment, and the prognosis is generally favorable.

In patients with diabetes, dyslipidemia plays a crucial role in the development and progression of atherosclerotic cardiovascular disease (ASCVD), and what's more, diabetes is a significant independent risk factor for ASCVD. Currently, in China, the rate of dyslipidemia among patients with diabetes is high, while the control rate remains low. Therefore, it is essential to screen for dyslipidemia and enhance its management in patients with diabetes at the primary care level. This guideline includes the following: basic requirements for the management of dyslipidemia, lipid testing items, management goals, lipid-lowering strategies and referral criteria. It aims to provide comprehensive guidance for the management of dyslipidemia in patients with diabetes at the primary care level.

Objective: To analyze the clinical and genetic mutation characteristics of Chinese patients with autosomal recessive demyelinating CMT (AR-CMT1/CMT4). Methods: A total of 244 patients clinically diagnosed with CMT at the Department of Neurology, PLA General Hospital between December 2012 and March 2023 were enrolled. Medical history collection, neurological examination, laboratory tests, nerve conduction studies (NCS), high-throughput nucleotide sequencing, and bioinformatics analysis were performed. Results: Among the 244 patients clinically diagnosed with CMT, 11 were found to carry 15 mutations in the FIG4, PRX, GDAP1, SBF1, SBF2, and SH3TC2 genes, including two previously unreported mutations: FIG4 (c.1039+2T>C) and SBF2 (c.1600+3A>G). According to ACMG guidelines, these two novel mutations were classified as pathogenic. Conclusion: AR-CMT1/CMT4 is a rare subtype of CMT. This study identified previously unreported mutations in SBF2 and FIG4 through genetic analysis of clinically diagnosed CMT patients, expanding the genetic spectrum of CMT in the Chinese population.