BACKGROUND: Pulmonary arterial hypertension (PAH) presents a significant health burden in Asia and remains a critical challenge. This study aims to delineate the PAH burden in Asia from 1990 to 2021. METHODS: Using the latest data from the Global Burden of Disease 2021, we evaluated and analyzed the distributions and patterns of PAH disease burden among various age groups, sexes, regions, and countries in Asia. Additionally, we examined the associations between PAH disease burden and key health system indicators, including the socio-demographic index (SDI) and the universal health coverage (UHC) index. RESULTS: In 2021, there were 25,989 new PAH cases, 103,382 existing cases, 13,909 PAH-associated deaths, and 385,755 DALYs attributed to PAH in Asia, which accounted for approximately 60% of global PAH cases. The age-standardized rates (ASRs) for prevalence and deaths were 2.05 (95% uncertainty interval [UI]: 1.66-2.52) per 100,000 population and 0.31 (95% UI: 0.23-0.38) per 100,000 population, respectively. From 1990 to 2021, Asia reported the lowest ASRs for PAH prevalence but the highest ASRs for deaths compared to other continents. While the ASRs for prevalence increased slightly, ASRs for mortality and DALYs decreased over time. This increasing burden of PAH was primarily driven by population growth and aging. The burden was especially pronounced among individuals aged ≥60 years and <9 years, who collectively accounted for the majority of deaths and DALYs. Moreover, higher SDI and UHC levels were linked to reduced incidence, but higher prevalence rates. CONCLUSIONS Although progress has been made in reducing PAH-related mortality and DALYs, the disease continues to impose a substantial burden in Asia, particularly among older adults and young children. Region-specific health policies should focus on improving early diagnosis, expanding access to treatment, and effectively addressing the growing PAH burden in the region.
Humans ; Global Burden of Disease ; Male ; Female ; Middle Aged ; Adult ; Asia/epidemiology* ; Prevalence ; Aged ; Pulmonary Arterial Hypertension/mortality* ; Adolescent ; Young Adult ; Child ; Child, Preschool ; Infant ; Hypertension, Pulmonary/epidemiology*

OBJECTIVE To systematically evaluate the efficacy and safety of cadonilimab in patients with malignant solid tumors. METHODS The related literature was comprehensively searched from PubMed， Embase， Cochrane Library， Web of Science， CNKI， Wanfang， VIP， and CBM databases， and the search time ranged from the establishment date to August 2025. Literature screening was strictly adhered to predefined inclusion and exclusion criteria， the quality of randomized controlled trials and single-arm studies were evaluated using the Cochrane risk of bias assessment tool and the MINORS scale， respectively. Meta- analysis was conducted using RevMan and Stata software. RESULTS A total of 23 studies （2 randomized controlled trials， 21 single-arm studies） with 2 539 patients were included. Pooled analysis of RCTs showed that the objective response rate （ORR） was significantly higher in the trial group than in the control group （RR＝1.24， 95%CI：1.08-1.42； P＝0.002）， but the risk of any-grade immune-related adverse events （irAEs） was also significantly increased （RR＝5.36， 95%CI：3.88-7.42； P＜0.000 01）. Pooled analysis of single-arm studies showed that the ORR of cadonilimab was 39.8% （95%CI：31.0%-49.7%）， and the median progression free survival was 6.39 months （95%CI：4.11-8.67）. Subgroup analysis indicated that the ORR for patients with cervical cancer and gastric or gastroesophageal junction adenocarcinoma were 54.5% （95%CI：40.8%-67.6%） and 54.1% （95%CI： 45.1%-62.7%）， respectively. In terms of safety， the incidences of grade ≥3 treatment-related adverse events and irAEs were 41.0% （95%CI： 31.0%-51.0%） and 9.9% （95%CI： 7.4%-13.8%）， respectively. CONCLUSIONS Cadonilimab demonstrates significant efficacy advantages in multiple solid tumors， with manageable safety， holding particularly important clinical value in cervical cancer and gastric or gastroesophageal junction adenocarcinoma.

The Janus kinase/signal transducers and activators of transcription (JAK-STAT) control natural killer (NK) cells development and cytotoxic functions, however, whether long non-coding RNAs (lncRNAs) are involved in this pathway remains unknown. We found that miR155HG was elevated in activated NK cells and promoted their proliferation and effector functions in both NK92 and induced-pluripotent stem cells (iPSCs)-derived NK (iPSC-NK) cells, without reliance on its derived miR-155 and micropeptide P155. Mechanistically, miR155HG bound to miR-6756 and relieved its repression of JAK3 expression, thereby promoting the JAK-STAT pathway and enhancing NK cell proliferation and function. Further investigations disclosed that upon cytokine stimulation, STAT3 directly interacts with miR155HG promoter and induces miR155HG transcription. Collectively, we identify a miR155HG-mediated positive feedback loop of the JAK-STAT signaling. Our study will also provide a power target regarding miR155HG for improving NK cell generation and effector function in the field of NK cell adoptive transfer therapy against cancer, especially iPSC-derived NK cells.

Objective:To explore the clinical characteristics of adult mediastinal bronchial cysts complicated with aspergillus infection, aiming to improve clinicians′ understanding of this rare lesion.Methods:A case of adult mediastinal bronchial cyst with aspergillus infection admitted to the Foshan Second People′s Hospital in February 2024, mainly presenting with fever and chest pain, was reported. Chest CT showed a mediastinal mass, and postoperative pathology confirmed bronchial cyst with aspergillus infection. Combined with relevant literature review, the clinical features, diagnosis and treatment points of the disease were summarized.Results:The patient successfully underwent surgical resection of the lesion, and pathological examination confirmed the diagnosis of bronchial cyst complicated with aspergillus infection. Literature review indicated that mediastinal bronchial cysts are relatively rare in adults, and cases complicated with aspergillus infection are even rarer.Conclusions:Adult mediastinal bronchial cyst complicated with aspergillus infection is a rare lesion with non-specific clinical manifestations. Imaging examination is an important diagnostic method, and the final diagnosis depends on pathological examination. Enhancing clinicians′ awareness of this disease is helpful for timely and accurate diagnosis and reasonable treatment.

The clinical characteristics, diagnosis and treatment process of a patient with type Ⅰ sialidosis (ST-1) caused by a homozygous mutation in the NEU1 gene who was missed diagnosis for 5 years were retrospectively analyzed to improve the understanding of the disease. A 16-year-old female patient presented with episodic limb shaking for more than 5 years and single generalised tonic-clonic seizure. Electroencephalogram (EEG) tests conducted at external hospital did not show any abnormalities, and head magnetic resonance imaging (MRI) showed general normality. Multiple antiepileptic drugs could not control the attack and the symptoms gradually worsened. After admission, the patient was found to have symptoms of easy wrestling and decreased vision, as well as signs of nystagmus and ataxia. The reexamination of the EEG showed extensive spike-and-slow complexes, and the brain MRI showed cerebellar atrophy. Furthermore, the whole-exome gene testing revealed the c.544A>G homozygous mutation in the NEU1 gene, leading to the diagnosis of ST-1. Levetiracetam tablets and clonazepam were given to improve the patient′s symptoms. During the follow-up, sleep improved compared to before, and myoclonus was significantly reduced. Therefore, patients with recurrent myoclonus, ataxia, and visual impairment without cognitive impairment should be aware of the possibility of sialidosis. Genetic testing plays an important role in the diagnosis of sialidosis.

The clinical characteristics, diagnosis and treatment process of a patient with type Ⅰ sialidosis (ST-1) caused by a homozygous mutation in the NEU1 gene who was missed diagnosis for 5 years were retrospectively analyzed to improve the understanding of the disease. A 16-year-old female patient presented with episodic limb shaking for more than 5 years and single generalised tonic-clonic seizure. Electroencephalogram (EEG) tests conducted at external hospital did not show any abnormalities, and head magnetic resonance imaging (MRI) showed general normality. Multiple antiepileptic drugs could not control the attack and the symptoms gradually worsened. After admission, the patient was found to have symptoms of easy wrestling and decreased vision, as well as signs of nystagmus and ataxia. The reexamination of the EEG showed extensive spike-and-slow complexes, and the brain MRI showed cerebellar atrophy. Furthermore, the whole-exome gene testing revealed the c.544A>G homozygous mutation in the NEU1 gene, leading to the diagnosis of ST-1. Levetiracetam tablets and clonazepam were given to improve the patient′s symptoms. During the follow-up, sleep improved compared to before, and myoclonus was significantly reduced. Therefore, patients with recurrent myoclonus, ataxia, and visual impairment without cognitive impairment should be aware of the possibility of sialidosis. Genetic testing plays an important role in the diagnosis of sialidosis.

Objective:To explore the clinical characteristics of adult mediastinal bronchial cysts complicated with aspergillus infection, aiming to improve clinicians′ understanding of this rare lesion.Methods:A case of adult mediastinal bronchial cyst with aspergillus infection admitted to the Foshan Second People′s Hospital in February 2024, mainly presenting with fever and chest pain, was reported. Chest CT showed a mediastinal mass, and postoperative pathology confirmed bronchial cyst with aspergillus infection. Combined with relevant literature review, the clinical features, diagnosis and treatment points of the disease were summarized.Results:The patient successfully underwent surgical resection of the lesion, and pathological examination confirmed the diagnosis of bronchial cyst complicated with aspergillus infection. Literature review indicated that mediastinal bronchial cysts are relatively rare in adults, and cases complicated with aspergillus infection are even rarer.Conclusions:Adult mediastinal bronchial cyst complicated with aspergillus infection is a rare lesion with non-specific clinical manifestations. Imaging examination is an important diagnostic method, and the final diagnosis depends on pathological examination. Enhancing clinicians′ awareness of this disease is helpful for timely and accurate diagnosis and reasonable treatment.

ObjectiveTo study the genetic diversity and genetic relationship of Pinellia ternata germplasm resources and provide the basis for germplasm identification， variety breeding， and resource conservation. MethodIn this study， 27 P. ternata were used as experimental materials to determine seven phenotypic characters， such as plant height， leaf length， and leaf width. Simple sequence repeats （SSR） primers were designed based on P. ternata transcriptome data， and polymerase chain reaction （PCR） amplification was performed on 27 P. ternata samples. The genetic diversity of P. ternata germplasm was analyzed by POPGENE32， PowerMarker V3.25， and NTSYS-PC 2.10e software. ResultA total of 10 pairs of highly polymorphic primers （PIC>0.5） and four pairs of moderately polymorphic primers （0.25

Objective:To explore the genetic basis for a fetus featuring oligodactyly.Methods:A fetus with hand deformity identified by ultrasound at the Maternal and Child Health Care Hospital of Hubei Province on October 20, 2018 was selected as the study subject. Clinical information and ultrasonographic finding of the pregnant woman were collected. Following elected abortion, umbilical cord and peripheral venous blood samples of the couple were collected for the extraction of genomic DNA. Copy number variation sequencing (CNV-seq) and trio-whole exome sequencing (trio-WES) were carried out. Candidate variants were verified by Sanger sequencing.Results:Ultrasonographic examination at 30 + 2 weeks of gestation revealed that the fetus had small right hand with absence of 2nd ~ 5th fingers, whilst its left hand had appeared to be normal. By CNV-seq, no pathogenic or likely pathogenic copy number variation (CNV) (> 100 kb) was detected in the fetus. Trio-WES revealed that the fetus had harbored a novel heterozygous c.3298G>A (p.Val1100Met) variant of the SMC3 gene. The variant has not been recorded in the population databases, and was predicted to be deleterious by several bioinformatics software and evolutionarily conserved based on multiple sequence alignment analysis. Sanger sequencing showed that neither parent has carried the same variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion:The fetus was diagnosed with Cornelia de Lange syndrome, for which the novel heterozygous c.3298G>A variant of the SMC3 gene may be accountable.

Advances in novel drugs, therapies, and genetic techniques have revolutionized the diagnosis and treatment of cancers, substantially improving cancer patients' prognosis. Although rare tumors account for a non-negligible number, the practice of precision medicine and development of novel therapies are largely hampered by many obstacles. Their low incidence and drastic regional disparities result in the difficulty of informative evidence-based diagnosis and subtyping. Sample exhaustion due to difficulty in diagnosis also leads to a lack of recommended therapeutic strategies in clinical guidelines, insufficient biomarkers for prognosis/efficacy, and inability to identify potential novel therapies in clinical trials. Herein, by reviewing the epidemiological data of Chinese solid tumors and publications defining rare tumors in other areas, we proposed a definition of rare tumor in China, including 515 tumor types with incidences of less than 2.5/100 000 per year. We also summarized the current diagnosis process, treatment recommendations, and global developmental progress of targeted drugs and immunotherapy agents on the status quo. Lastly, we pinpointed the current recommendation chance for patients with rare tumors to be involved in a clinical trial by NCCN. With this informative report, we aimed to raise awareness on the importance of rare tumor investigations and guarantee a bright future for rare tumor patients.
Humans ; Neoplasms/pathology* ; Biomarkers ; Prognosis ; Oceans and Seas ; China/epidemiology*