A 46-year-old lady was diagnosed clinically with X-linked hypophosphatemia (XLH) with a rare pathogenic variant detected using exome sequencing. Phosphate-regulating endopeptidase homologous X linked (PHEX) is normally expressed in osteoblasts and osteocytes, and senses phosphate regulation. More than 1000 PHEX variants have been detected to date, which are caused by missense, nonsense, and frameshift mutations in addition to splice variants and copy number changes. The aberration in the PHEX gene leads to the upregulation of fibroblastic growth factor 23 (FGF23), which leads to defects in phosphate metabolism. This results in impaired bone growth and mineralization, short and disproportionate stature, leg bowing, musculoskeletal pain, spontaneous dental abscesses, rickets, and osteomalacia in XLH patients. The spectrum of manifestations differs between pediatric and adult patients. In our case study, two of the patient’s children started showing symptoms at a younger age, unlike their mother. Timely diagnosis and the start of treatment would help in their better management and improved quality of life.
Background: In hemodialysis patients, fibroblast growth factor 23 (FGF23) has reportedly been associated with the development of cardiovascular complications and a high risk of mortality. Our objective here was to study the cleavage characteristics of FGF23 in hemodialysis patients. Methods: This study design is a cross-sectional observational investigation of three facilities without intervention. To assess FGF23 concentrations, we obtained plasma samples from 97 hemodialysis patients before the hemodialysis session and from 16 healthy volunteers. We measured the FGF23 C-terminal fragment and intact FGF23 concentrations by using a commercial enzyme-linked immunosorbent assay. Results: Serum levels of the FGF23 C-terminal fragment were 189 ± 121 ng/mL in healthy volunteers and 306 ± 206 ng/mL in hemodialysis patients. The ratios of intact FGF23 to total FGF23 were 0.03 ± 0.03 in healthy volunteers and 0.44 ± 0.28 in hemodialysis patients. The ratios were positively correlated with levels of inorganic phosphate in hemodialysis patients (p < 0.001, r = 0.52). Conclusion: We measured actual levels of the serum FGF23 C-terminal fragment in hemodialysis patients by using a new commercial kit for the first time. The ratio of intact FGF23 to total FGF23 was lower in healthy controls than the ratio in hemodialysis patients. The cleavage percentage of FGF23 was considerably higher in both groups of subjects than previously thought. We suggest that hyperphosphatemia in hemodialysis patients was associated with impaired cleavage of FGF23.
Yoshihiro Motomiya*, Yoshiteru Kaneko, Yasuki Motomiya and Yuichiro Higashimoto*
Published on: 14th October, 2024
Background: We previously reported, for the first time, serum levels of the C-terminal fragment of fibroblast growth factor 23 (C-FGF23) in patients undergoing hemodialysis (HD). Most HD patients have undergone treatment with either recombinant erythropoietin (r-EPO) or hypoxia-inducible factor (HIF) proline hydroxylase domain (PHD) inhibitor, both of which stimulate FGF23 production and cleavage. Methods: This cross-sectional observational study involved analyzing measuring FGF-related parameters and comparing results for subgroups of patients who received either r-EPO and or a PHD inhibitor. Results: No significant difference was observed for iron-related parameters or serum hepcidin levels in both subgroups of patients. Significant differences were found for certain FGF-23-related parameters. Conclusion: Both FGF23 production and cleavage were stimulated more in patients treated with the PHD inhibitor than in patients treated with r-EPO.
We appreciate your approach to scholars and will encourage you to collaborate with your organization, which includes interesting and different medical journals.
With the best wishes of success, creativity and joy in life, prosperity in the medical field.
Ivano- Frankivsk National Medical University, Ukraine
Nataliya Kitsera
“The choice to submit the forensic case study to the Journal of Addiction Therapy and Research was dictated by the match between the content and the potential readership. The publication process proved to be expedient and we were provided with constructive feedback from reviewers. The final article layout is attractive and conforms to standards. All-in-all, it has been a rewarding process.”
Elisabeth H Wiig
I wanna to thank clinical journal of nursing care and practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!
Wollo University, Ethiopia
Atsedemariam Andualem
Submission of paper was smooth, the review process was fast. I had excellent communication and on time response from the editor.
Ayokunle Dada
Dear colleagues! I am satisfied with our cooperation with you. Your service is at a high level. I hope for a future relationship. Let me know if I can get a paper version of the magazine with my articles from you. I see them on the Internet.
Aksenov V.V
I, Muhammad Sarwar Khan, am serving as Editor on Archives of Biotechnology and Biomedicine (ABB). I submitted an editorial titled, 'Edible vaccines to combat Infectious Bursal Disease of poultry' for publication in ABB. After submitting the manuscript; the services rendered by the management and technical personnel to handle and process the manuscript were marvelous. Plagiarism report was shared with me with complements before reviewers' comments, All steps including article processing and service charges were well taken care of keeping in view the author's interest/preference. All together, it was an encouraging and wonderful experience working with ABB personnel.
University of Agriculture, Pakistan
Muhammad Sarwar Khan
Great, thank you! It was very efficient working w/ your group. Very thorough reviews (i.e., plagiarism, peer, etc.). Would certainly recommend that future authors consider working w/ your group.
David W Brett
“It was a delightful experience publishing my manuscript with the Clinical Journal of Obstetrics and Gynecology. They offered me lots of opportunities I never had from most publishing houses and their prompt services are greatly appreciated.”
Asafo Jones
The Journal Clinical Nephrology provides a good opportunity for readers to stay updated in the field of clinical nephrology. Additionally - it provides a good opportunity for authors to publish their work.
1. Publication of the accepted manuscripts is sufficiently rapid.
2. The trust factor between the journal and me, as an author, is very important and well preserved.
3. Peer review process very rapid and effective.
Assaf Harofeh Medical Center, Israel
Leonid Feldman
You are such a nice person. Your journal co-operation is very appreciable and motivational.
Department of Biotechnology, Uttaranchal college of Applied and Life Sciences, Uttaranchal University, Dehradun, Uttarakhand, India
HSPI: We're glad you're here. Please click "create a new Query" if you are a new visitor to our website and need further information from us.
If you are already a member of our network and need to keep track of any developments regarding a question you have already submitted, click "take me to my Query."