Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

Purpose@#To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population. @*Materials and Methods@#Forty-seven patients clinically suspected of having PCD were enrolled at a tertiary medical center. WES was performed in all patients, and seven patients received biopsy of cilia and transmission electron microscopy (TEM). @*Results@#Overall, PCD was diagnosed in 10 (21.3%) patients: eight by WES (8/47, 17%), four by TEM. Among patients diagnosed as PCD based on TEM results, two patients showed consistent results with WES and TEM of PCD (2/4, 50%). In addition, five patients, who were not included in the final PCD diagnosis group, had variants of unknown significance in PCD-related genes (5/47, 10.6%).The most frequent pathogenic (P)/likely pathogenic (LP) variants were detected in DNAH11 (n=4, 21.1%), DRC1 (n=4, 21.1%), and DNAH5 (n=4, 21.1%). Among the detected 17 P/LP variants in PCD-related genes in this study, 8 (47.1%) were identified as novel variants. Regarding the genotype–phenotype correlation in this study, the authors experienced severe PCD cases caused by the LP/P variants in MCIDAS, DRC1, and CCDC39. @*Conclusion@#Through this study, we were able to confirm the value of WES as one of the diagnostic tools for PCD, which increases with TEM, rather than single gene tests. These results will prove useful to hospitals with limited access to PCD diagnostic testing but with relatively efficient in-house or outsourced access to genetic testing at a pre-symptomatic or early disease stage.

Association between face covering policies and the incidence of coronavirus disease 2019 in European countries

Objectives@#This study was conducted to determine the impact of the strengthening or relaxation of face covering mandates on the subsequent national case incidence of coronavirus disease 2019 (COVID-19) in Europe as the full vaccination rate was increasing. @*Methods@#European countries in which case incidence increased for 3 consecutive weeks were monitored and analyzed using COVID-19 incidence data shared by the World Health Organization (WHO). The epidemic trend of COVID-19 in Europe was compared with that of countries elsewhere in the world based on WHO weekly epidemiological reports from June 20 to October 30, 2021. In addition, this study provided insight into the impact of government mask mandates on COVID-19 incidence in Europe by measuring the index scores of those facial covering policies before and after mandate relaxation or strengthening. The effects of the vaccination rate and the speed of vaccination on COVID-19 incidence were also analyzed. @*Results@#The incidence of COVID-19 after the relaxation of face covering mandates was significantly higher than before relaxation. However, no significant difference was observed in vaccination rate between countries with increased and decreased incidence. Instead, rapid vaccination delayed the resurgence in incidence. @*Conclusion@#The findings suggest that face covering policies in conjunction with rapid vaccination efforts are essential to help mitigate the spread of COVID-19.

Common dental anomalies in Korean orthodontic patients: An update / 대한치과교정학회지

Objective@#The aim of this study was 1) to investigate the prevalence and pattern of dental anomalies (DAs), 2) to compare DAs according to the type of malocclusion, and 3) to investigate the correlation between tooth impaction and other DAs in the Korean orthodontic population. @*Methods@#A total of 3,240 orthodontic patients were classified as Class I, Class II, or Class III malocclusion groups. The presence and location of common DAs, including impaction, microdontia, agenesis, supernumerary tooth, transposition, and fusion, were identified by examining diagnostic records. Furthermore, samples were classified as Group 1 without impaction or Group 2 with impaction. The prevalence of other DAs concurrent with impaction was investigated and compared to Group 1. @*Results@#Impaction was the most prevalent DA, followed by microdontia, agenesis, and supernumerary. Class I and Class III groups showed the same order of prevalence, but agenesis was more frequent than microdontia in the Class II group. The prevalence of the four DAs was lowest in the Class III group. Overall, 8.6% of patients were classified into Group 2. The incidence of DAs other than impaction and the prevalence of multiple concurrent DAs were significantly higher in Group 2. Impaction showed a significant relationship with supernumerary tooth, transposition, and fusion. @*Conclusions@#The prevalence and pattern of DAs varied depending on the type of malocclusion. As there was a higher risk of other DAs in patients with impacted teeth, early detection of the impacted tooth and a detailed diagnosis of other possible DAs may be essential.

What are the Barriers to Antenatal Care Utilization in Rufisque District, Senegal?: a Bottleneck Analysis

BACKGROUND: This study aimed to analyze the barriers affecting the utilization of antenatal care (ANC) among Senegalese mothers. METHODS: Health facility staffs were surveyed to examine the availability coverage of ANC (infrastructural capacity of health posts to handle maternal and newborn healthcare). A total of 113 women of childbearing age were surveyed to identify factors associated with the accessibility coverage (physical, economic, and information accessibility factors), acceptability coverage (socio-cultural features, social acceptance, and language), and effectiveness coverage (ratio of mothers having completed 4 visits) of ANC. Further, to identify the socio-cultural factors and the specific characteristics of the barriers, 5 focus group discussions were conducted with women of childbearing age, their husbands and mothers-in-law, community health workers, and health facility staff. The effectiveness coverage of ANC was analyzed by reviewing materials from the District Health Information System 2 of Senegal. RESULTS: Key barriers of ANC utilization were associated with acceptability coverage. ANC during early pregnancy was avoided owing to the negative social stigma surrounding miscarriage. The survey results indicated an extremely high miscarriage rate of 30.9% among the participants. The social stigma towards unmarried mothers caused them to hide their pregnancy, which deterred ANC utilization. The husband was the final decision maker and social supporter on ANC utilization. CONCLUSION: To promote the utilization of ANC services among pregnant women in Senegal, it is important to alleviate the social stigma towards miscarriages and unmarried mothers, and to provide greater social support for pregnancies and newborn deliveries within family.

Erratum: Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication

The publisher wishes to apologize for incorrectly displaying the author (Seok Beom Gwon) name. We correct his name from Seok Beom Gwon to Seok Beom Kwon.

Spontaneous aortic rupture in a patient with neurofibromatosis type 1 / 대한외과학회지

Neurofibromatosis type I (NF-1) is a rare autosomal dominant genetic disorder occurring in 1 in 3,000 individuals. Vasculopathy is a rarely reported finding in patients with NF-1. Here, we report a case of recurrent aortic pseudoaneurysm after endovascular aneurysm repair in a 49-year-old male patient with NF-1. On the sixth postoperative day following a successful open surgical repair of an aortic pseudoaneurysm, he developed hemoperitoneum due to a delayed rupture of the mesenteric artery branch. This was treated with endovascular coil embolization. We report the clinical features and histologic findings of this rare vascular disorder with a review of the relevant literature.

Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication

BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. METHODS: We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. RESULTS: Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. CONCLUSIONS: In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.

Comparison of Results from Objective Structured Clinical Examinations for Medical Students Performed Before and After Clinical Clerkship / 한국의학교육

PURPOSE: We conducted objective structured clinical examinations (OSCEs) in medical students both before entering clinical clerkship and after finishing clinical clerkship for the purpose of evaluating the usefulness of OSCEs before clinical clerkship. METHODS: The subjects of the study comprised 77 3rd-year medical students who participated in a 2-week course of physical diagnosis before clinical clerkship, and 98 4th-year medical students who had completed their clinical clerkship. The OSCE consisted of 17 cases and 17 stations for the 3rd-year medical students, and 20 cases and 28 stations for the 4th-year students. We assigned 4 minutes and 30 seconds to each station. OSCE stations were duplicated at two sites and were performed twice. After the OSCE, we used structured questionnaires to survey the subjects for their opinions of the current process and the need for an OSCE. RESULTS: At the psychiatric station, which applied an identical scenario and checklists to both the 3rd- and 4th-year medical students, the mean score of the 3rd-year medical students was significantly lower than that of the 4th-year students. The correlation coefficient between OSCE score and cumulative performance grade of 3rd-year medical students (r=0.29) also was lower than that of 4th-year medical students (r=0.53). Over 80% of the 3rd-year medical students and over 90% of the 4th-year responded that an OSCE is necessary. However, around 70% of students preferred an OSCE for each clinical class during clinical clerkship, and only 33~38% of students preferred an OSCE as a final examination. Almost all students wanted to receive feedback after an OSCE. CONCLUSIONS: Performing an OSCE on 3rd-year medical students before they enter clinical clerkship provides better preparation for the clinical clerkship than an evaluation alone. We suggest that an OSCE should be used as a formative assessment in addition to a summative evaluation such as a final examination.