1.Setting Priority Criteria for Classification of Self-Testing In Vitro Diagnostic Medical Devices Using Analytic Hierarchy Process Technique
Seol-Ihn KIM ; Do-Yun PYEON ; Yong-Ik JEONG ; Jahyun CHO ; Gaya NOH ; Green BAE ; Hye-Young KWON
Health Policy and Management 2023;33(2):173-184
Background:
The coronavirus disease 2019 pandemic has been challenging the healthcare service, i.e., the vitalization of the point of care accompanying self-testing in vitro diagnostic medical devices (IVDs). This study aims to suggest priority criteria to classify self-testing IVDs using the analytic hierarchy process technique.
Methods:
Two dimensions of the characteristics embedded in the IVDs and the diseases to be diagnosed with self-testing IVDs were parallelly considered and independently investigated. In addition, three expert panels consisting of laboratory medical doctors (n=11), clinicians (n=10), and citizens (n=11) who have an interest in the selection of self-testing IVDs were asked to answer to questionnaires. Priorities were derived and compared among each expert panel.
Results:
First of all, ease of specimen collection (0.241), urgency of the situation (0.224), and simplicity of device operation (0.214) were found to be the most important criteria in light of the functional characteristics of self-testing IVDs. Medical doctors valued the ease of specimen collection, but the citizen’s panel valued self-management of the disease more. Second, considering the characteristics of the diseases, the priority criteria were shown in the order of prevalence of diseases (0.421), fatality of disease (0.378), and disease with stigma (0.201). Third, medical doctors responded that self-testing IVDs were more than twice as suitable for non-communicable diseases as compared to communicable diseases (0.688 vs. 0.312), but the citizen’s group responded that self-testing IVDs were slightly more suitable for infectious diseases (0.511 vs. 0.489).
Conclusion
Our findings suggested that self-testing IVDs could be primarily classified as the items for diagnosis of non-communicable diseases for the purpose of self-management with easy specimen collection and simple operation of devices, taking into account the urgency of the situation as well as prevalence and fatality of the disease.
2.A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
Misun YANG ; Jinsup KIM ; Aram YANG ; Jahyun JANG ; Tae Yeon JEON ; Sung Yoon CHO ; Dong Kyu JIN
Annals of Pediatric Endocrinology & Metabolism 2018;23(4):229-234
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.
Adult
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Alleles
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Codon, Nonsense
;
Congenital Abnormalities
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Familial Hypophosphatemic Rickets
;
Genu Valgum
;
Humans
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Korea
;
Mothers
;
Phenotype
;
Rickets, Hypophosphatemic*
;
Vitamin D
3.First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
Ari SONG ; Minji IM ; Min-Sun KIM ; Eu Seon NOH ; Chiwoo KIM ; Jahyun JANG ; Sae-Mi LEE ; Chang-Seok KI ; Sung Yoon CHO ; Dong-Kyu JIN
Annals of Pediatric Endocrinology & Metabolism 2023;28(1):67-72
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.
4.Comparative Effects of Bivalent, Quadrivalent, and Nonavalent Human Papillomavirus Vaccines in The Prevention of Genotype-Specific Infection:A Systematic Review and Network Meta-Analysis
Jimin KIM ; Young June CHOE ; Jungeun PARK ; Jahyun CHO ; Chelim CHEONG ; Jin-Kyoung OH ; Mihai PARK ; Eunha SHIM ; Su-Yeon YU
Infection and Chemotherapy 2024;56(1):37-46
Background:
Human papillomavirus (HPV) infection is a major global disease burden and the main cause of cervical cancer. Certain HPV genotypes, with are the most common etiologic pathogens and cause a significant disease burden, are being targeted for vaccine development. However, few studies have focused on the comparative effectiveness of the bivalent HPV (2v-HPV), quadrivalent HPV (4v-HPV), and nonavalent HPV (9v-HPV) vaccines against HPV strain-specific infection. This study investigated the comparative effects of these vaccines against genotype-specific infection.
Materials and Methods:
We conducted a pairwise and network meta-analysis of published randomized clinical trials of HPV vaccines according to sex and HPV infection status for nine HPV genotypes (HPV 6/11/16/18/31/33/45/52/58).
Results:
Overall, 10 randomized controlled trials (12 articles) were included in this study. In the network metaanalysis, no statistically significant differences were observed in the prevention of carcinogenic HPV strains (16/18/31/33/45/52/58) between the 2v-HPV and 4v-HPV vaccines in female HPV infection–naïve populations. However, the 9v-HPV vaccine showed a significantly superior effect compared with 2v-HPV and 4v-HPV vaccines in preventing HPV 31/33/45/52/58 infections. Although 2v-HPV and 4v-HPV vaccines provided some cross-protection against HPV 31/33/45/52/58 infections, the effect was significant only on HPV 31 infection. For HPV 16 and 18, neither statistically significant nor small differences were found in the prevention of HPV infection among the 2v-HPV, 4v-HPV, and 9v-HPV vaccines.
Conclusion
Our study complements previous understanding of how the effect of HPV vaccines differs according to the HPV genotype. This is important because HPV genotype prevalence varies among countries. We advocate for continued efforts in vaccinating against HPV, while public health agencies should consider the difference in the vaccine effect and HPV genotype prevalence when implementing HPV vaccination in public vaccination programs.