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BACKGROUND: The purpose of the current study was to determine the correlation between the apnea-hypopnea index (AHI) and ambulatory arterial stiffness index (AASI) in patients with obstructive sleep apnea hypopnea syndrome (OSAHS). METHODS: A total of 201 patients with OSAHS admitted to Zhongshan Hospital (Xiamen), Fudan University from January 2021 to October 2023 were selected and divided into two groups based on the AHI (mild-to-moderate and severe groups). All patients completed the general data collection, portable sleep monitoring, and dynamic blood pressure monitoring. One-way analysis of variance was used to compare the general clinical characteristics between groups with OSAHS of different severity. Correlation analysis was used to compare the correlation between AASI and portable sleep monitoring parameters. Multiple linear regression analysis was used to determine the correlation between AASI and portable sleep monitoring parameters. RESULTS: Patients with severe OSAHS exhibited significantly higher BMI, uric acid levels, and AASI compared with the mild-to-moderate group (P < 0.05). Multiple linear regression analysis revealed that age, AHI, and the percentage of total time with oxygen saturation level less than 90% (T90) were independently and positively associated with AASI (P < 0.05), while the estimated glomerular filtration rate showed a negative association. Notably, age and the degree of nocturnal hypoxemia (T90) showed a more clinically significant association with arterial stiffness than AHI. CONCLUSION: There was a correlation between OSAHS severity and the AASI, and the degree of arteriosclerosis in OSAHS patients increased with an increase in the AHI, although age and hypoxic burden were the primary drivers of arterial stiffness.

Vascular anomalies, including proliferative vascular tumours and structural malformations, are largely driven by postzygotic somatic mutations that constitutively activate key signalling pathways, mainly the PI3K/AKT/mTOR and RAS/MAPK pathways. This molecular understanding has shifted clinical management from empiric interventions towards precision medicine. In this review, the interactions between somatic mosaicism, germline predispositions (e.g., PTEN hamartoma tumour syndrome), and microenvironmental risk factors in the context of lesional progression are described. We synthesized data on genotype‒phenotype correlations-such as PIK3CA mutations in lymphatic and venous malformations, KRAS/MAP2K1 mutations in arteriovenous malformations, and cerebral cavernous malformation (CCM) complex dysfunctions in cerebral cavernous anomalies-while fundamentally differentiating the mechanistic dependencies of true malformations from those of proliferative tumours. Targeted therapies, including mTOR, PI3Kα, and MEK inhibitors, have exhibited significant clinical efficacy in the treatment of pathway-specific anomalies. Despite these advances, therapeutic resistance and drug dependency persist. Future directions include the development of integrated diagnostic frameworks combining tissue biopsies with longitudinal cell-free DNA (cfDNA) monitoring, optimizing dual-pathway combination strategies, and advancing cellular models to reshape the management of vascular anomalies.

Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability. Due to current sample size limitations, identifying TS/PTD risk genes has been challenging. This study addressed this issue by conducting a meta-analysis of microarray copy number variant (CNV) studies from three TS/PTD genomics consortia, supplemented with new data from 3291 cases. This approach more than doubled the sample size of previous TS/PTD CNV studies, with CNV calls generated from 5725 TS/PTD cases and 10,982 matched controls. The results confirmed that TS/PTD cases 1) have a higher burden of ultra-rare deletions overlapping loss-of-function intolerant genes (OR = 1.68, P = 9.3×10-5) and 2) are more likely to carry established neurodevelopmental CNVs (OR = 1.42, P = 3.9×10-2) compared to controls. Additionally, a novel, genome-wide significant CNV locus for TS/PTD was discovered, involving duplications at 17q12 (hg19 chr17:34.8 - 36.2 Mb). This locus is associated with a known duplication syndrome associated with variable neuropsychiatric traits, but has not been previously linked to tic disorders. Eight cases and one control carried the canonical ~1.4 Mb duplication at chr17:34.8-36.2 Mb, while one additional case had a smaller 110 kb duplication within this known CNV that included only one gene, ACACA (acetyl-CoA carboxylase, OR = 26.7, P = 5.69×10-7). Overall, this study provides further evidence that rare, genic CNVs play a substantial role in the genetic architecture of TS/PTD and identifies a new genome-wide significant association with this neurodevelopmental disorder.

OBJECTIVE: To investigate the surgical treatment methods and clinical outcomes of repair for anterior talofibular ligament (ATFL) injury at talar attachment. METHODS: A clinical data of 26 patients with ATFL injuries at the talar attachment, who underwent surgical treatment between January 2021 and January 2025, was retrospectively analyzed. The cohort comprised 12 males and 14 females, with a mean age of 30 years (range, 11-52 years). The mean body mass index was 21.5 kg/m 2 (range, 16.2-28.2 kg/m 2). The median disease duration was 6 weeks (range, 4 days to 108 months). Preoperative Numeric Rating Scale (NRS) score was 4.5±1.7 and American Orthopaedic Foot and Ankle Society (AOFAS) score was 58.0±19.1. The anterior drawer test was positive in all cases, and the varus stress test was positive in two cases. Concomitant pathologies included osteochondral lesions of the talus ( n=4), calcaneofibular ligament injury ( n=2), sinus tarsi syndrome ( n=3), and generalized ligamentous laxity ( n=2). Arthroscopic repair was performed in 21 patients. Five patients with extensive ATFL avulsions or concomitant calcaneofibular ligament injuries underwent a mini-open procedure. Standardized postoperative rehabilitation was implemented for all patients. RESULTS: All incisions achieved primary healing with no surgery-related complication. All patients were followed up 12-59 months (mean, 28 months). At last follow-up, NRS and AOFAS scores improved significantly to 0.8±1.0 and 96.8±5.0, respectively ( P<0.05). Mechanical stability was restored, with negative anterior drawer tests in all patients. Regarding functional recovery, 11 patients returned to their pre-injury sports intensity at a mean of 6 months (range, 4-7 months). The remaining 15 patients who had no exercise habits before injury resumed normal daily activities at 6 months after operation, among them, 2 cases exhibited limited range of motion at 6 months but achieved functional independence for daily activities following intensive rehabilitation. CONCLUSION: Surgical repair of ATFL injury at the talar attachment-whether via arthroscopic suture anchors, mini-open suture anchors, or transosseous suturing-yields favorable clinical outcomes. The choice of surgical technique should be stratified by the extent of ligamentous injury and the severity of concomitant pathologies.

This review provides summarization of the most significant infectious diseases (ID) pharmacotherapy articles published in peer-reviewed literature in 2025. Members of the Houston Infectious Diseases Network (HIDN) nominated notable articles providing significant contributions to ID pharmacotherapy in 2025. Article nominations included those pertaining to general ID and human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) pharmacotherapy. To aid selection of the most notable articles of 2025, a survey was created and distributed to members of the Society of Infectious Diseases Pharmacists (SIDP). A total of 32 articles were nominated by HIDN/SIDP members, 26 articles related to general ID pharmacotherapy and 6 articles focusing on HIV/AIDS. Of the 212 SIDP members who participated in the survey, there were 101 recorded votes for the top 10 general ID pharmacotherapy articles and 40 votes recorded for the top HIV/AIDS article. The most notable publications are summarized. Ongoing research continues to discover findings that enhance antimicrobial stewardship and inform best practices in infectious diseases. From over 2000 articles published on PubMed using the keywords "infectious diseases," "HIV," "pharmacotherapy," and "anti-infective," this review highlights and summarizes the most influential ID publications with aims to update clinicians on potentially practice-changing ID pharmacotherapy publications from 2025.