Targeting Metabolomics in Primary Hypertrophic Osteoarthropathy: Uncovering Novel Insights into Disease Pathogenesis.

Context: Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder characterized by skeletal and skin abnormalities. Genetic defects in prostaglandin E2 (PGE2) metabolism are known to cause PHO. However, the global impact and clinical significance of eicosanoids and oxylipins beyond PGE2 remain to be elucidated.

Bone microarchitecture evaluated by HR-pQCT in Chinese adolescent and pediatric patients with X-linked hypophosphatemia.

Context: X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. Previous studies have found deteriorated bone microarchitecture in the XLH adults. Detailed studies on the skeletal microarchitecture of XLH adolescent and pediatric patients are still lacking.

Four new phenylpropanoid glycosides from the leaves of and their neuroprotective activities.

Four previously unreported phenylpropanoid glycosides (-), together with four known analogues (-), were isolated from the leaves of . The structures of these new compounds were elucidated based on spectroscopic analysis (HR-ESI-MS, NMR, IR, UV) and chemical methods. In addition, the neuroprotective activities of all the isolates were evaluated by measuring their cell viability in HO-induced OLN-93 cell injury model.

Neuroprotective effect of GJ-4 against cognitive impairments in vascular dementia by improving white matter damage.

Background: White matter lesions (WMLs) are increasingly linked to the pathological process of chronic vascular dementia (VaD). An effective crocins fraction extracted from Gardenia Fructus, GJ-4, has been shown to improve cognitive function in several Alzheimer's disease models and VaD models.

Objectives: To explore the potential mechanisms of GJ-4 on WMLs in a chronic VaD mouse model.

Receptor-like kinase ERECTA negatively regulates anthocyanin accumulation in grape.

Receptor-like kinase (ERECTA, ER) is essential for mediating growth, development, and stress response signaling pathway in plants. In this study, we investigated the effect of VvER on anthocyanin synthesis as a regulatory factor in transgenic grape callus in response to chilling stress. Results showed that overexpression of VvER reduced the expression of transcription factors VvMYBA1, VvMYB5b, VvMYC2, and VvWDR1, as well as the structural genes VvCHS, VvCHI, VvDFR, VvLDOX, and VvUFGT, and inhibited the anthocyanins synthesis of grape callus at 25℃.

Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia.

Context: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease caused by inactivation mutations in the PHEX gene. Despite the extensive number of reported PHEX variants, only a few cases of chromosomal abnormalities have been documented.

Objective: We aimed to identify the pathogenic variants in 6 unrelated families with a clinical diagnosis of XLH and to propose a genetic workflow for hypophosphatemia patients suspected of having XLH.

Hypoxia macrophage-derived exosomal miR-26b-5p targeting PTEN promotes the development of keloids.

Background: Hypoxia is the typical characteristic of keloids. The development of keloids is closely related to the abnormal phenotypic transition of macrophages. However, the role of exosomal microRNAs (miRNAs) derived from hypoxic macrophages in keloids remains unclear.

Incident vertebral fracture and longitudinal BMD change in Chinese postmenopausal women with early CKD: Peking Vertebral Fracture Study.

Unlabelled: Early chronic kidney disease (CKD) and non-CKD individuals had similar morphometric vertebral fracture (mVF) incidence and longitudinal bone mineral density (BMD) change. CKD did not modify the association between BMD and incident mVF status. Patients with a higher baseline BMD had a higher longitudinal BMD loss in early CKD.

miR-656-3p inhibits melanomas in vitro and in vivo by inducing senescence via inhibiting LMNB2.

Background: Ultra-Violet Radiation (UVR) is the most significant exogenous contributor to skin aging. UVB causes the senescence of melanocytes, which results in a permanent arrest in the proliferative process. Senescence is also regarded as a physiological tumor-suppressing mechanism of normal cells.

Shift in Calcium From Peripheral Bone to Axial Bone After Tumor Resection in Patients With Tumor-Induced Osteomalacia.

Context: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by excessive production of fibroblast growth factor 23 (FGF23) by a tumor. After successful tumor resection, patients can recover from hypophosphatemia quicky. However, data on the changes in bone mineral density (BMD) and microstructure in the short term after surgery remained unclear.

SUMOylation mediates the disassembly of the Smad4 nuclear export complex via RanGAP1 in KELOIDS.

Sentrin/small ubiquitin-like modifier (SUMO) has emerged as a powerful mediator regulating biological processes and participating in pathophysiological processes that cause human diseases, such as cancer, myocardial fibrosis and neurological disorders. Sumoylation has been shown to play a positive regulatory role in keloids. However, the sumoylation mechanism in keloids remains understudied.

A Chinese case of CHST3-related skeletal dysplasia and a systematic review.

Purpose: We reported a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and made a systematic review of all previously reported cases.

Methods: A 14.8-year-old boy underwent clinical, radiological, and genetic evaluations.

Ultra-High Performance Liquid Chromatography-Mass Spectrometry-based Serum Metabolomics for Early Diagnosis of Refractory Tumor-induced Osteomalacia: A Case-control Study.

Context: Nearly 20% patients with tumor-induced osteomalacia (TIO) experienced recurrence or nonrecovery after surgery. Serum fibroblast growth factor 23 and phosphate concentrations are not sufficient for prognosis in such cases. Despite its importance for understanding of prognosis and underlying pathogenesis, the alteration of systemic metabolism in refractory TIO remains unclear.

Discovery of novel anti-tumor compounds targeting PARP-1 with induction of autophagy through and screening.

Poly (ADP-ribose) polymerase 1 (PARP-1) is a critical enzyme involved in DNA damage repair and recombination, and shows great potential for drug development in the treatment of cancers with defective DNA repair. The anti-tumor activities of PARP-1 inhibitors are regulated by both inhibition activities and allosteric mechanisms of PARP-1, and may also be involved in an autophagy-mediated process. Screening PARP-1 inhibitors with potential allosteric mechanisms and induced autophagy process could achieve elevated potency toward cancer cell killing.

The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.

Context: Hereditary hypophosphatemic rickets (HR) consists of a group of inherited hypophosphatemia due to mutations of different genes, which need genetic analysis to make a differential diagnosis. Among them, autosomal recessive hypophosphatemic rickets type 1 (ARHR1), caused by a homozygous mutation of dentin matrix protein 1 (DMP1), is extremely rare, with only 30 reported patients. To date, there has been no case with compound heterozygous DMP1 mutations.

Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G > A Mutation.

Achondroplasia (ACH) is a skeletal disorder caused by fibroblast growth factor receptor 3 (FGFR3) variants. Volumetric bone mineral density (vBMD), bone microarchitecture, and strength have not been evaluated in these patients previously. This study aims to evaluate vBMD, bone microarchitecture, and strength in ACH patients.

Tumor-induced osteomalacia combined with acromegaly: A case report.

Both acromegaly and tumor-induced osteomalacia (TIO) are rare diseases caused by an excess hormone secreted by neuroendocrine neoplasms, which are growth hormone (GH) and fibroblast growth factor 23 (FGF23), respectively. GH elevates phosphate reabsorption via the effect of insulin-like factor 1 (IGF-1), while FGF23 inhibits phosphate reabsorption and reduces serum phosphate level markedly. A patient who developed a typical acromegaly appearance but was accompanied with height loss and hypophosphatemia for 2 years visited our hospital.

Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility.

The male-specific Y chromosome, which is well known for its diverse and complex repetitive sequences, has different sizes, genome structures, contents and evolutionary trajectories from other chromosomes and is of great significance for testis development and function. The large number of repetitive sequences and palindrome structure of the Y chromosome play an important role in maintaining the stability of male sex determining genes, although they can also cause non-allelic homologous recombination within the chromosome. Deletion of certain Y chromosome sequences will lead to spermatogenesis disorders and male infertility.