Classification and epidemiologic analysis of 86 diseases in .

Following the release of in May 2018, the Chinese government officially published in September 2023. To date, there is no unified standard and international consensus for rare diseases, and epidemiologic data for most rare diseases in China are lacking. We investigated 86 rare diseases on the second list using Orphanet and other databases to clarify the classification, nomenclature, and epidemiologic data for these diseases, and we summarized the genotype and phenotype of hereditary diseases.

Corrigendum: TAT-HSP27 peptide improves neurologic deficits via reducing apoptosis after experimental subarachnoid hemorrhage.

[This corrects the article DOI: 10.3389/fncel.2022.

EPB41L4A-AS1 is required to maintain basal autophagy to modulates Aβ clearance.

Alzheimer's disease (AD) is the most common neurodegenerative disorder characterized by the deposition of β-amyloid (Aβ) plaques. Aβ is generated from the cleavage of the amyloid precursor protein by β and γ-secretases and cleared by neuroglial cells mediated autophagy. The imbalance of the intracellular Aβ generation and clearance is the causative factor for AD pathogenesis.

Vitamin C alleviates rheumatoid arthritis by modulating gut microbiota balance.

Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic and symmetric in-flammation. Our previous research revealed an imbalance in the gut flora of RA patients and showed that certain gut microbiota can accelerate RA progression by enhancing vitamin C degradation. However, it is unclear whether vitamin C supplementation could improve the gut microbiota to prevent the development of arthritis by interfering with the gut-joint axis.

Role of IFITM2 in osteogenic differentiation of C3H10T1/2 mesenchymal stem cells.

Interferon-inducible transmembrane (IFITM) are a family of small proteins localized to plasma and endolysosomal membranes. Their functions beyond restricting viral entry and replication have been revealed in recent years. IFITM5 is involved in bone mineralization and is an osteogenic cell surface marker.

Antidepressant effect of licorice total flavonoids and liquiritin: A review.

With the development of society and changes in lifestyle, major depressive disorder (MDD) has become a significant disease that plagues many people. Licorice, an excellent natural medicine with a long history of cultivation and application, is found in classical antidepressant prescriptions such as Chaihu Shugan Powder, Ganmai Dazao Decoction, Suanzaoren Decoction, etc. Licorice mainly contains triterpenoids and flavonoids, among which licorice total flavonoids (LF) and liquiritin are the main active components with good antidepressant effects.

Circ_KIAA0922 regulates Saos-2 cell proliferation and osteogenic differentiation by regulating the miR-148a-3p/SMAD5 axis and activating the TGF-β signaling pathway.

Circular RNAs (circRNAs) are emerging as important regulators in human disease, but their function in osteoporosis (OP) is not sufficiently known. The aim of this study was to identify the possible molecular mechanism of circ_KIAA0922 in osteogenic differentiation of Saos-2 cells and the interactions among circ_KIAA0922, miR-148a-3p, and SMAD family member 5 (SMAD5). Circ_ KIAA0922, miR-148a-3p, and SMAD5 were overexpressed by transient transfection.

Identification of novel and mutation in Chinese patient with developmental and epileptic encephalopathy 45.

Developmental and epileptic encephalopathy 45 (DEE45) is an autosomal dominant disease caused by variation in the gamma-aminobutyric acid type A receptor subunit beta 1 () gene. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurological deficits. However, DEE45 is rare; only four infants with DEE45 have been reported worldwide and no case has been reported in China.

The novel role of IFITM1-3 in myogenic differentiation of C2C12 cells.

Interferon-induced transmembrane proteins (IFITMs 1, 2, and 3) play a critical role in preventing pathogen infection in vertebrates. They are also involved in the occurrence and prognosis of cancer. Myogenesis is a complex process regulated by several factors.

Analysis of marketed orphan drugs in China.

In recent years, China has increased attention on the issue of rare diseases, and the government has promulgated rare disease-related policies to gradually improve rare disease diagnosis, treatment, drug marketing, and patient burden. Orphan drugs were added to the medical insurance directory in 7 batches, of which 22 drugs were first included in the 2004 medical insurance directory and 8, 16, 12, 7, 8, and 7 were included in the 2009, 2017, 2019, 2020, 2021, and 2022 versions, respectively. Currently, 106 orphan drugs are marketed in China, which are suitable for treating 53 rare diseases such as hematologic diseases, congenital metabolism disorders, neuropathies, and digestive system diseases and for other treatment fields.

Ultra-weak photon emission as a potential tool for evaluating the therapeutic effect of traditional Chinese medicine in patients with type 2 diabetes.

Background: Traditional Chinese medicine (TCM) has been used to prevent and treat type 2 diabetes (T2DM) for thousands of years. The holistic view of TCM and the "multitarget" characteristics of Chinese medicine have unique advantages in the prevention and treatment of T2DM. TCM syndrome differentiation and treatment are effective for T2DM; however, currently, the therapeutic effect of TCM is generally evaluated by asking for patients' subjective feelings, or by checking the changes in relevant indicators.

Factors that influence family-focused practice in Chinese mental health workers: A cross-sectional survey.

Introduction: Family-focused practice has become an emerging paradigm in mental health services. However, little is known about family-focused practice and associated factors in Chinese mental health workers.

Aim: To examine family-focused practice and associated factors in Chinese mental health workers.

Corrigendum: A biophoton method for identifying the quality states of fresh Chinese herbs.

[This corrects the article DOI: 10.3389/fphar.2023.

A biophoton method for identifying the quality states of fresh Chinese herbs.

The quality of Chinese herbs is the basis for ensuring their safety and efficacy. However, the quality evaluation system is imperfect. In particular, there is a lack of quality evaluation methods for fresh Chinese herbs during growth.

Evaluation of F-FAPI-04 Imaging in Assessing the Therapeutic Response of Rheumatoid Arthritis.

Purpose: Fibroblast activating protein (FAP) is highly expressed in the synovial tissues of rheumatoid arthritis (RA) patients. The aim of this study was to determine the feasibility of PET imaging with an Al[F] F-NOTA-labeled FAP inhibitor 04(F-FAPI-04) for the evaluation of arthritic progression and therapeutic response in experimental arthritis.

Methods: Fibroblast-like synoviocytes (FLSs) were obtained from patients with RA or osteoarthritis (OA), and the relationship between F-FAPI-04 uptake and the inflammatory activity of RA FLSs was investigated.

The application and trend of ultra-weak photon emission in biology and medicine.

Ultra-weak bioluminescence, also known as ultra-weak photon emission (UPE), is one of the functional characteristics of biological organisms, characterized by specialized, low-energy level luminescence. Researchers have extensively studied UPE for decades, and the mechanisms by which UPE is generated and its properties have been extensively investigated. However, there has been a gradual shift in research focus on UPE in recent years toward exploring its application value.

A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.

Methylmalonic acidemia with homocystinuria (MMA-cblC) is an autosomal recessive genetic disorder of organic acid metabolism. Shandong, a northern province of China, has a significantly high incidence of about 1/4,000, suggesting a high carrying rate among the local population. The current study established a PCR technique involving high-resolution melting (HRM) to screen for carriers based on hotspot mutation analysis to further develop a preventive strategy to reduce the local incidence of this rare disease.

Rhein for treating diabetes mellitus: A pharmacological and mechanistic overview.

With the extension of life expectancy and changes in lifestyle, the prevalence of diabetes mellitus is increasing worldwide. L. a natural botanical medicine, has been used for thousands of years to prevent and treat diabetes mellitus in Eastern countries.

Metabolic disorder and intestinal microflora dysbiosis in chronic inflammatory demyelinating polyradiculoneuropathy.

Objective: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare acquired immune-mediated neuropathy. Although microbial infection is potentially a contributing factor, a causative link between CIDP and microbial infection remains unclear. There is also no definitive biomarker for CIDP diagnostics and therapies.

Association of maternal TSH and neonatal metabolism: A large prospective cohort study in China.

Aims: Neonatal metabolites are very important in neonatal disease screening, and maternal thyroid hormones play an important role in fetal and neonatal health. Our study aimed to explore the association of maternal thyroid hormones with neonatal metabolites and identify an important time windows.

Methods: Pregnant women were recruited in Jinan Maternity and Child Care Hospital and followed up until delivery.

The modulation of gut microbiota by herbal medicine to alleviate diabetic kidney disease - A review.

The treatment of diabetic kidney disease (DKD) has been the key concern of the medical community. Herbal medicine has been reported to alleviate intestinal dysbiosis, promote the excretion of toxic metabolites, and reduce the secretion of uremic toxins. However, the current understanding of the modulation of the gut microbiota by herbal medicine to delay the progression of DKD is still insufficient.