Examination of medical students’ opinions on multimedia learning materials according to social cues: focusing on sound principles / 한국의학교육

Purpose@#Although interest in various forms of learning media is increasing due to the coronavirus disease 2019 (COVID-19) pandemic there is relatively little research on influencing student motivation by intervening in cognitive processing. The purpose of this study was to present the optimal form of learning materials provided to medical students. @*Methods@#This study provided learning materials in class at a level according to social cues (script, video [artificial intelligence (AI) voice], video [professor voice]) based on the principle of voices among the principles of personalization, voices, image, and embodiment of social cues in multimedia learning, and surveyed students’ opinions. @*Results@#There was no statistically significant difference according to social clues in satisfaction and learning help, but both appeared in the order of silent videos containing the professor’s voice, followed by videos containing the AI voice. @*Conclusion@#This study is significant in that there is no research on the impact of student motivation on the provision of learning materials for medical school education in Korea, and we hope that it will help provide learning materials for self-directed learning of medical students in the post-COVID-19.

Human resources and medical supplies consumption during the COVID-19 pandemic: a single-center study / 고신대학교의과대학학술지

Background@#In the face of the unexpected coronavirus disease 2019 (COVID-19) pandemic, every country has struggled with insufficient human resources and medical supplies. This study aims to provide the statistical information necessary for discussing how to model stockpiles of medical resources. @*Methods@#This study was conducted at the Hallym University Kangnam Sacred Heart Hospital, in South Korea. The study duration was 2 weeks, centered on March 16, 2022, when the number of daily confirmed patients with COVID-19 in Korea peaked. The number of human resources was obtained by counting the number of healthcare workers using CCTV. Drug prescriptions and medical device usage were obtained from electronic medical records. @*Results@#In total, 117 inpatients and 26,485 outpatients were managed at this hospital during the 2-week study period. Daily visits were highest among nurses in all units, followed by doctors and radiology technicians. The mean daily consumption of personal protective equipment (PPE) per bed was 4.3 sets in the intensive care unit (ICU), 1.8 in the semi-ICU, and 1.4 in the ward. Despite the four-fold difference in the number of patients, there was no statistically significant difference between the two wards in the number of daily visits. Drug prescription rates were higher among inpatients than at-home patients. @*Conclusions@#The higher the COVID-19 severity, the higher the consumption of PPE per patient. Among healthcare workers, nurses had the highest number of inpatient treatment visits for COVID-19. To efficiently utilize, PPE, structures containing more isolation beds in a single negative pressure isolation system would be preferred.

Clinical Sensitivity of the (1–3)-β-D-glucan Test for Predicting Candidemia

The sensitivity of the (1–3)-β-D-glucan (BDG) diagnostic test for candidemia varies in different clinical settings, and its usefulness in early diagnosis of candidemia is suboptimal. We evaluated the sensitivity of the test for early candidemia prediction. All adult patients with culture-proven candidemia who underwent a serum Goldstream Fungus (1–3)-β-D-Glucan Test within seven days prior to candidemia onset at a tertiary referral hospital between January 2017 and May 2021 were included. Any-positive BDG results within seven days prior to candidemia onset were obtained in 38 out of 93 (40.9%) patients. The positive rate increased when the test was performed near the day of candidemia onset (P=0.04) but reached only 52% on the day of candidemia onset. We observed no significant differences between BDG-positive and -negative groups in terms of underlying disease, risk factors for candidemia, clinical presentation, origin of candidemia, and 30-day mortality. Candida albicans was significantly associated with positive BDG results than with all-negative BDG results (P=0.04). The Goldstream BDG test is unreliable for candidemia prediction because of its low sensitivity. Negative BDG results in patients with a high risk of invasive candidiasis should be interpreted with caution.

Comparison of the Tongue-Palate Pressure Patterns According to the Tongue Pressure in Community-Dwelling Older Adults / 치위생과학회지

Background@#Oral frailty has garnered considerable interest following its identification as a risk factor for physical frailty. The Koreanoral frailty diagnosis criteria have emphasized the need for extensive research on oral frailty diagnostic items and interventions.Our study performed an in-depth analysis of the tongue-palate pressure patterns in healthy community-dwelling older adults. @*Methods@#Of the 217 older adults aged ≥60 years who visited a senior center in Wonju, 205 participants who completed tongue pressure measurement were included in the final analysis. Pressure changes over time were recorded by instructing the participants to press their tongue against the hard palate with for 7 seconds per cycle. The participants were divided into the normal and abnormal tongue pressure (NTP and ATP, respectively) groups based on whether they achieved the target tongue pressure at least once; tongue pressure patterns were compared between the groups. Furthermore, the average time taken to achieve the standard tongue pressure value was calculated for the participants in the NTP group and used to evaluate the decrease in tongue pressure in the ATP group. @*Results@#Among the 205 participants, 40.5% had ATP. The tongue pressure graph revealed a gentle and consistent incline that wasmaintained even after achieving standard tongue pressure in the NTP group. The graph was more extreme in the ATP group, and the changes in the pressure type varied across individuals; the tongue pressure was only 48.4%, 40.7%, 31.9%, and 22.6% of the NTP in the participants in their 60s, 70s, 80s, and ≥90s, respectively (p＜0.05). @*Conclusion@#Tongue pressure weakness was observed in 40.5% of the healthy community-dwelling older adults. Furthermore,ATP graphs were observed in the patients with tongue pressure weakness. Thus, activities improving the oral function in community-dwelling older adults and systematic oral rehabilitation programs should be devised to promote normal swallowing.

Study on the Learning Environment of Medical Students in the COVID-19 / 계명의대학술지

In Korea, the COVID-19 pandemic began and the situation was very serious due to the rapid increase in confirmed cases. In this study, we conducted a study that included the online class environment, learning environment including living environment, and overall life of medical students who are experiencing sudden changes in environment due to COVID-19, to help medical students' academic and school life, and to provide medical services. We want to help improve the quality of education. The subjects of the study are 6 grades from the 1st year of pre-medical school to the 4th year of the medical department attending a medical school in the Daegu area in the 2021 school year, and a total of 450 are studied. In addition, a survey was conducted on students who agreed to the study, and it consisted about the online learning environment and overall living conditions. As a result of the study, there were no gender differences in the online learning environment and overall life amid the COVID-19 pandemic. There were differences between pre-medical and medical students in the online learning environment, and overall life. Due to the sudden COVID-19 pandemic, medical students were faced with an online learning environment that they could not choose. They took care of the physical resources provided by the school on their own and learned the importance of this.

Medical education program implementation experience in an elective course: a case study in South Korea / 한국의학교육

Purpose@#This study was conducted to examine the results of designing and implementing a teaching program for medical education as the elective course for 4th-year students of medical course. @*Methods@#In order to design the teaching program for medical education as an elective course, we conducted literature review, five medical education experts were interviewed, and the literature required in the design process was reviewed. A developing teaching program was implemented as an elective course in a medical school of Korea, and 4th-year students of medical course participated in the program. @*Results@#In the elective course, the medical education program process competencies were derived into three categories: theoretical educational knowledge, teaching competency, and research competency for education. Moreover, instructional materials were developed to help students achieve these competencies. And project-based learning strategy was selected and implemented for 4th-year students in medical course, and positive satisfaction was confirmed. @*Conclusion@#As a study designed and implemented in a medical education program in a medical school in Korea, it is expected to be helpful when introducing medical education to undergraduate students or developing a medical education program to strengthen the teaching capacity of residents.

The Benefit of Supplemental Cough Suppression Therapy for Chronic Refractory Cough

Background and Objectives@#Cough suppression therapy (CST) is a physiotherapy that can be used for patients with chronic refractory cough (CRC). We aimed to investigate the efficacy of CST for CRC.Materials and Method A prospective randomized controlled trial was conducted in 27 patients with CRC. Participants were randomized to receive either standard mucolytic medications for CRC combined with supplemental CST (CST group) or standard medications alone (control group). CST consists of laryngeal hygiene management, humidification, cough suppression technique, breathing method, and counseling. We assessed the symptoms change at baseline and week 4 with the Leicester Cough Questionnaire (LCQ). Secondary efficacy outcomes included the degree of cough Visual Analog Scale (VAS) score (0 to 100 scale). @*Results@#From 2019 to 2021, 14 CST group patients and 13 control group patients were included. The improvement was significantly greater in the CST group than in the control group for cough VAS score (36.67 to 13.33 vs. 74.29 to 16.43, p<0.001). Patients in the CST group had a significant improvement in total (70.14 to 107.71, p=0.005), physical (31.42 to 43.86, p= 0.015), psychological (23.57 to 40.14, p=0.003), and social (15.14 to 23.71, p=0.005) LCQ scores. However, there was not a significant pre- to post-treatment LCQ score improvement in control group. @*Conclusion@#CST might be an effective supplemental intervention for CRC.

Application of an Intraoperative Neuromonitoring System Using a Surface Pressure Sensor in Parotid Surgery: A Rabbit Model Study

Objectives@#. Facial nerve monitoring (FNM) can be used to identify the facial nerve, to obtain information regarding its course, and to evaluate its status during parotidectomy. However, there has been disagreement regarding the efficacy of FNM in reducing the incidence of facial nerve palsy during parotid surgery. Therefore, instead of using electromyography (EMG) to identify the location and state of the facial nerve, we applied an intraoperative neuromonitoring (IONM) system using a surface pressure sensor to detect facial muscle twitching. The objective of this study was to investigate the feasibility of using the IONM system with a surface pressure sensor to detect facial muscle twitching during parotidectomy. @*Methods@#. We evaluated the stimulus thresholds for the detection of muscle twitching in the orbicularis oris and orbicularis oculi, as well as the amplitude and latency of EMG and the surface pressure sensor in 13 facial nerves of seven rabbits, using the same stimulus intensity. @*Results@#. The surface pressure sensor detected muscle twitching in the orbicularis oris and orbicularis oculi in response to a stimulation of 0.1 mA in all 13 facial nerves. The stimulus threshold did not differ between the surface pressure sensor and EMG. @*Conclusion@#. The application of IONM using a surface pressure sensor during parotidectomy is noninvasive, reliable, and feasible. Therefore, the IONM system with a surface pressure sensor to measure facial muscle twitching may be an alternative to EMG for verifying the status of the facial nerve.

The Development of Evaluation Methods for Outcomes in Medical Humanities Curriculum of a Medical School / 계명의대학술지

This study was performed to select the proper assessing methods for learning outcomes in undergraduate education of medical humanities (MH), and to evaluate whether student assessments in MH curricula are related to the graduate outcomes (GO)and/or periodic phase outcomes (PO). We searched the reasonable assessing methods for GO and PO of MH curricula of Keimyung University School of Medicine (KUSM). The outcomes are composed of six competencies including patient care, communication, patient support, professionalism, problem solving and research, and self-development. Then, we analyzed whether student assessments carried out during formal MH curricula properly achieved their PO, furthermore their GO. Four competencies including communication, patient support, professionalism, self-development were lightened to be closely related to outcomes for MH. Only the component of problem solving was settled to be related to MH in the competency of problem solving and research. The competency of patient care was excluded from the relationship with MH. The assessing methods for the GO and three PO recommended from educational experts, and there were various available assessing methods based on medical situations and clinical contexts including direct observation of clinical skills, 360 degree feedback, peer review, self-assessment, project-based assessment, portfolio-based assessment, discussion & presentation-based assessment, log-based assessment. For the outcome-achieving from formal MH curricula, the MH programs of phase-1 (1st and 2nd grades) almost accomplished the PO of communication, patient supporting and professionalism, and considerably accomplished the PO of problem solving and self-development. The MH programs of phase-2 (3rd and 4th grades) accomplished considerably their PO as the competencies of professionalism and problem solving, and partially as communication, patient supporting and self-development. However, as only one program, public health law, was provided for MH program in phase-3 (5th and 6th grades), the extra methods to evaluate their MH outcomes are needed. Many assessing methods can be available for the most MH competencies consisting of the GO of KUSM, and the proper assessing methods for each MH competency should be selected based on programs and learning contexts in MH education. While formal MH curricula of the school variously accomplished the MH competencies of GO according to periodic phases of curricula, it is recommended to enhance the feasibility and effectiveness of evaluation for GO in MH curricula of the school.

Implementing Medical Education Continuous Quality Improvement Using Design‐Based Research / 의학교육논단

The goal of this study is to present efficient measures to improve the quality of medical education through using a developed and applied continuous quality improvement (CQI) model suitable for medical education.To achieve this purpose, we developed a theoretical CQI model through a review of the literature according to the design-based research method. Through repetitive productive cyclical processes and professional reviews, we finally deduced an appropriate CQI model for medical education. The most important results of this study are as follows: First, the CQI model for medical education is defined as a quality management system with a cyclical course of planning, implementation, evaluation, and improvement of medical education.Second, the CQI model for medical education is composed of quality management activities of educational design, work, and evaluation. In addition, each activity has the implementation strategies of planning, doing, checking, and improving based on the PDCA model (Plan-Do-Check-Act model). Third, the CQI model for medical school education is composed of committees related to medical education doing improvement activities, as well as planning, implementing and evaluating it with CQI. As a result, we can improve teaching by using the CQI model for medical education. It is more meaningful because this gives us organized and practical measures of quality management and improvement in medical education as well as in the educational process.

β-Amyrin Ameliorates Alzheimer’s Disease-Like Aberrant Synaptic Plasticity in the Mouse Hippocampus

Alzheimer’s disease (AD) is a progressive and most frequently diagnosed neurodegenerative disorder. However, there is still no drug preventing the progress of this disorder. β-Amyrin, an ingredient of the surface wax of tomato fruit and dandelion coffee, is previously reported to ameliorate memory impairment induced by cholinergic dysfunction. Therefore, we tested whether β-amyrin can prevent AD-like pathology. β-Amyrin blocked amyloid β (Aβ)-induced long-term potentiation (LTP) impairment in the hippocampal slices. Moreover, β-amyrin improved Aβ-induced suppression of phosphatidylinositol-3-kinase (PI3K)/Akt signaling.LY294002, a PI3K inhibitor, blocked the effect of β-amyrin on Aβ-induced LTP impairment. In in vivo experiments, we observed that β-amyrin ameliorated object recognition memory deficit in Aβ-injected AD mice model. Moreover, neurogenesis impairments induced by Aβ was improved by β-amyrin treatment. Taken together, β-amyrin might be a good candidate of treatment or supplement for AD patients.

Screening of Integrin Heterodimers Expressed Functionally on the Undifferentiated Spermatogonial Stem Cells in the Outbred ICR Mice

Background and Objectives@#Outbred mice are widely used in toxicology, pharmacology, and fundamental biomedical research. However, there have been no reports of in vitro culture systems for spermatogonial stem cells (SSCs) derived from these mice. @*Methods@#As a step towards constructing a non-cellular niche supporting the in vitro maintenance of outbred mouse SSC self-renewal, we systematically investigated the types of integrin heterodimers that are expressed transcriptionally, translationally, and functionally in SSCs derived from Imprinting Control Region (ICR) mice. @*Results@#Among the genes encoding 25 integrin subunits, integrin α1, α5, α6, α9, αV, and αE, and integrin β1 and β5 had significantly higher transcriptional levels than the other subunits. Furthermore, at the translational level, integrin α5, α6, α9, αV, and αE, and β1 were localized on the surface of SSCs, but integrin α1 and β5 not. Moreover, significantly stronger translational expression than integrin α9 and αE was observed in integrin α5, α6, αV, and β1. SSCs showed significantly increased adhesion to fibronectin, laminin, tenascin C and vitronectin, and functional blocking of integrin α5β1, α6β1, α9β1 or αVβ1 significantly inhibited adhesion to these molecules. @*Conclusions@#We confirmed that integrin α5β1, α6β1, α9β1 and αVβ1 actively function on the surface of undifferentiated SSCs derived from outbred ICR mice.

The Impact of Androgen Receptor and Histone Deacetylase 1 Expression on the Prognosis of Ductal Carcinoma In Situ / 한국유방암학회지

Purpose@#Factors associated with invasive recurrence (REC) of ductal carcinoma in situ (DCIS) are less known. This study was aimed at identifying better biomarkers to predict the prognosis of DCIS. @*Methods@#RNA extracted from formalin-fixed paraffin-embedded blocks of twenty-four pure DCIS cases was subjected to differential gene expression analysis. The DCIS cases were selected by matching age and estrogen receptor status. Sixteen REC-free and 8 invasive-REC cases with disease-free interval of > 5 years were analyzed. Immunohistochemistry (IHC) staining was used to validate sixty-one independent pure DCIS cases, including invasive-REC (n = 16) and REC-free (n = 45) cases. @*Results@#Eight differentially expressed genes (DEGs) were statistically significant (log 2-fold change [FC] 1 and p < 0.001). Less than ½ fold expression of CUL1, androgen receptor (AR), RPS27A, CTNNB1, MAP3K1, PRKACA, GNG12, MGMT genes was observed in the REC group compared to the no evidence of disease group. AR and histone deacetylase 1 (HDAC1) genes were selected for external validation (AR: log 2-FC − 1.35, p < 0.001, and HDAC1: log 2-FC − 0.774, p < 0.001). External validation showed that the absence of AR and high HDAC1 expression were independent risk factors for invasive REC (hazard ratio [HR], 5.04; 95% confidence interval [CI], 1.24–20.4; p = 0.023 and HR, 3.07; 95% CI, 1.04–9.04; p = 0.042). High nuclear grade 3 was also associated with long-term invasive REC. @*Conclusion@#Comparative gene expression analysis of pure DCIS revealed 8 DEGs among recurring cases. External validation with IHC suggested that the absence of AR and overexpression of HDAC1 are associated with a greater risk of long-term invasive REC of pure DCIS.

Analysis of Job Interest and Job Value in the Freshmen of a Medical School / 계명의대학술지

This study was conducted to study the job interest and job value of medical freshmen. The job interest test and job value test by the Korea Employment Information Service of the Ministry of Employment and Labor were conducted on 149 medical freshmen enrolled in a medical school at 2019 and 2020. Among six types of job interest, investigative type was most suitable for the medical freshmen, followed by realistic type, enterprising type, social type. Among 13 types of job values, job stability, body and mind space, recognition, and financial compensation were higher values than the others in order. We expect that this result will be helpful to establish the career identity of medical students, and to construct the system of curriculum or counseling programs for career developing of them.

The Impact of Androgen Receptor and Histone Deacetylase 1 Expression on the Prognosis of Ductal Carcinoma In Situ / 한국유방암학회지

Purpose@#Factors associated with invasive recurrence (REC) of ductal carcinoma in situ (DCIS) are less known. This study was aimed at identifying better biomarkers to predict the prognosis of DCIS. @*Methods@#RNA extracted from formalin-fixed paraffin-embedded blocks of twenty-four pure DCIS cases was subjected to differential gene expression analysis. The DCIS cases were selected by matching age and estrogen receptor status. Sixteen REC-free and 8 invasive-REC cases with disease-free interval of > 5 years were analyzed. Immunohistochemistry (IHC) staining was used to validate sixty-one independent pure DCIS cases, including invasive-REC (n = 16) and REC-free (n = 45) cases. @*Results@#Eight differentially expressed genes (DEGs) were statistically significant (log 2-fold change [FC] 1 and p < 0.001). Less than ½ fold expression of CUL1, androgen receptor (AR), RPS27A, CTNNB1, MAP3K1, PRKACA, GNG12, MGMT genes was observed in the REC group compared to the no evidence of disease group. AR and histone deacetylase 1 (HDAC1) genes were selected for external validation (AR: log 2-FC − 1.35, p < 0.001, and HDAC1: log 2-FC − 0.774, p < 0.001). External validation showed that the absence of AR and high HDAC1 expression were independent risk factors for invasive REC (hazard ratio [HR], 5.04; 95% confidence interval [CI], 1.24–20.4; p = 0.023 and HR, 3.07; 95% CI, 1.04–9.04; p = 0.042). High nuclear grade 3 was also associated with long-term invasive REC. @*Conclusion@#Comparative gene expression analysis of pure DCIS revealed 8 DEGs among recurring cases. External validation with IHC suggested that the absence of AR and overexpression of HDAC1 are associated with a greater risk of long-term invasive REC of pure DCIS.

Analysis of Job Interest and Job Value in the Freshmen of a Medical School / 계명의대학술지

This study was conducted to study the job interest and job value of medical freshmen. The job interest test and job value test by the Korea Employment Information Service of the Ministry of Employment and Labor were conducted on 149 medical freshmen enrolled in a medical school at 2019 and 2020. Among six types of job interest, investigative type was most suitable for the medical freshmen, followed by realistic type, enterprising type, social type. Among 13 types of job values, job stability, body and mind space, recognition, and financial compensation were higher values than the others in order. We expect that this result will be helpful to establish the career identity of medical students, and to construct the system of curriculum or counseling programs for career developing of them.

Distribution of Rickettsia spp. in Ticks from Northwestern and Southwestern Provinces, Republic of Korea

This study was done to characterize distribution of Rickettsia spp. in ticks in the northwestern and southwestern provinces in the Republic of Korea. A total of 2,814 ticks were collected between May and September 2009. After pooling, 284 tick DNA samples were screened for a gene of Rickettsia-specific 17-kDa protein using nested PCR (nPCR), and produced 88 nPCR positive samples. Of these positives, 75% contained 190-kDa outer membrane protein gene (ompA), 50% 120-kDa outer membrane protein gene (ompB), and 64.7% gene D (sca4). The nPCR products of ompA, ompB, and sca4 genes revealed close relatedness to Rickettsia japonica, R. heilongjiangensis, and R. monacensis. Most Rickettsia species were detected in Haemaphysalis longicornis. This tick was found a dominant vector of rickettsiae in the study regions in the Republic of Korea.

Application Effects of Medical Ethics for Problem Solving Ability And Grouping Methods / 계명의대학술지

This study was aimed to examinate the effectiveness of the application of a medical ethics class model at 2014 and 2016 for the improvement of students' problem solving ability (PSA) in a medical school. The PSA of medical students was relatively higher than that of regular adults and college students. There were not significant differences of PSA between male and female medical students (pre-medical ethics class: t= 0.29 p= 0.78; post-medical ethics class: t= 1.09, p= 0.29). The significant improvements of students' PSA were remarkable after the application of the medical ethics class model (at 2014: t= 3.29, p < 0.01, at 2016: t= 7.05, p < 0.01). In 2016, all five lower level competencies of PSA such as ‘clarification problem’ ‘cause analysis’, ‘developing alternatives’, ‘running the plan’ and ‘assessing performance’ were significantly improved. In 2014, however, ‘cause analysis’, ‘developing alternatives’ and ‘running the plan’ of five lower level competencies of PSA were significantly improved. There were significant improvements of PSA after the medical ethics class model in both the higher PSA group (p < 0.01) and the lower PSA group (p < 0.01) in 2016. However, there was significant improvement of PSA after the medical ethics class in the lower PSA group only in 2014 (p < 0.01). This difference is be due to the grouping ways of discussion teams. The discussion teams of 2016 were homogeneously composed of the higher PSA students only or of the lower PSA students only, comparing to the discussion teams of 2014 composed heterogeneously of combining of the higher PSA and the lower PSA students. The medical ethics class model is thought to be very helpful educational method for improving of the PSA, and the grouping into homogeneous teams with PSA members of similar PSA level seems to be helpful to improve PSA than grouping into heterogeneous teams.

The Development of Mission and Vision Using Delphi Method in a Medical School / 계명의대학술지

The mission of an organization defines the fundamental reason for the organization's existence and serves as a compass that leads and guides the organization. This study aimed to develop a system regarding mission and vision in accordance with the value system of organizations. The Delphi questionnaires were formulated in such a way to reflect an open survey for the first survey and then a structured survey in the second survey. The validity of the Delphi survey results was analyzed using the content validity ratio (CVR).Missions include the reason for the existence of an organization and its management purpose. A vision is a blueprint that outlines the future roles and goals of an organization beyond its current position. Then, a strategy is seen as a method to achieve the mission and vision. Values are consistent principles and tenet. This study found through the web sites of all 40 medical schools that 9 schools (22.5%) had both missions and visions, 10 schools (25.0%) had only one of them, and 21 schools (52.5%) had none of them. this study recommends the inclusion of various stakeholder, the selection of a mission system, modification or improvements after re-analyzing the relationship, the use of the Delphi method, proofreading of the draft by Korean language experts, the suitability and notify about the mission development to medical school members.

A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report the case of a 22-month-old toddler who presented with growth retardation and delayed development. The patient exhibited the typical laboratory findings of VDDR1A, including hypocalcemia (calcium: 5.2 mg/dL), elevated serum level of alkaline phosphatase (2,600 U/L), elevated serum level of intact-parathyroid hormone (238 pg/mL), low 1,25(OH)₂D₃ level (11.2 pg/mL), and normal 25(OH)D₃ level (40.7 ng/mL). His height and weight were 76.5 cm and 9.5 kg, respectively (both <3rd percentile). The Bayley Scales of Infant and Toddler Development II indicated significantly delayed development (mental development index <50, psychomotor development index <50). The patient was a compound heterozygous for two novel pathogenic variants in the CYP27B1 gene: c.57_69del (p.Glu20Profs*2) and c.171dupG (p.Leu58Alafs*275), inherited from his mother and father, respectively. The patient showed remarkable improvement after treatment with calcitriol and calcium carbonate.