The Y-chromosome, as with other chromosomes in the cell, is subject to mutations. However, unlike autosomal genes, the Y chromosome does not undergo recombination, and therefore individuals from different geographical regions may have differing distribution patterns with respect to Y-chromosome mutations. More detailed knowledge and information regarding Y-chromosome mutations might therefore provide insights into phylogenetic history and personal identification. Here, we describe a case study involving genotype-phenotype discrepancy in an Indian male individual. We found that the mistyping in sex determination was caused by a deletion in the amelogenin Y (AMEL Y) gene. Furthermore, on examining the short tandem repeat (Y-STR) loci using the PowerPlex(R) Y23 System, we found four more deleted loci on Yp11.2 (DYS576, DYS481, DYS570, and DYS458) in this sample. We performed deletion mapping for this sample, and we propose that the microdeletion on the Yp11.2 locus occurred approximately in the 6.44 Mb to 9.75 Mb region. Previous studies have reported that the AMEL Y deletion is a common mutation in the Indian population. Taking into account regional differences, we also analyzed several area-specific Y-chromosome mutations.
Amelogenin ; DNA* ; Humans ; Male ; Microsatellite Repeats ; Recombination, Genetic ; Y Chromosome*

PURPOSE: Matrix metalloproteinases (MMPs) are capable of degrading extracellular matrix, and they are inducible enzymes depending on an inflammatory environment such as periodontitis and bacterial infection in periodontal tissue. Gingival inflammation has been postulated to be correlated with the production of MMP-2 and MMP-9. The objective of this study was to quantify the expression and activity of MMP-9 and -2, and to determine the correlation between activity and expression of these MMPs in human gingival tissues with periodontitis. METHODS: The gingival tissues of 13 patients were homogenized in 500 microL of phosphate buffered saline with a protease inhibitor cocktail. The expression and activity of MMP-2 and -9 were measured by enzyme-linked immunosorbent assay and Western blot analysis, and quantified by a densitometer. For the correlation line, statistical analysis was performed using the Systat software package. RESULTS: MMP-9 was highly expressed in all gingival tissue samples, whereas MMP-2 was underexpressed compared with MMP-9. MMP-9 activity increased together with the MMP-9 expression level, with a positive correlation (r=0.793, P=0.01). The correlation was not observed in MMP-2. CONCLUSIONS: The expression of MMP-2 and -9 might contribute to periodontal physiological and pathological processes, and the degree of MMP-9 expression and activity are predictive indicators relevant to the progression of periodontitis.
Bacterial Infections ; Blotting, Western ; Enzyme-Linked Immunosorbent Assay ; Extracellular Matrix ; Humans ; Inflammation ; Matrix Metalloproteinase 2 ; Matrix Metalloproteinase 9 ; Matrix Metalloproteinases ; Pathologic Processes ; Periodontitis ; Protease Inhibitors

BACKGROUND: Smoking is one of the known major risk factors of coronary artery disease and previous studies have shown that the risk of mortality declines after cessation of smoking. The goal of this study was to determine the influence of smoking on mortality after percutaneous coronary intervention, which has still not been established in Korea. METHODS: Patients who had undergone successful percutaneous coronary intervention at Asan Medical Center between January 1996 and June 1997 were classified into nonsmokers (n=306), ex-smokers (n=178), and current smokers (n=360). According to subsequent smoking status, current smokers were divided into quitters (n=152), persistent smokers (n=173), and unknown status (n=35). The data of the death Roll was from the National Statistical Office. RESULTS: The maximum follow-up was 119 months (mean+/-SD=100+/-26.5). The total smoking rate was 42.7%. The mortality rates of nonsmokers, ex-smokers and current smokers were 17.6%, 20.8%, and 17.2%, respectively. In analyses adjusted for base line characteristics, the relative risk of death among current smokers was 1.57 (95% confidence interval [CI], 0.98 to 2.53) and among ex-smokers was 1.37 (95% CI, 0.80 to 2.35) compared with nonsmokers. The persistent smokers had a greater relative risk of death from all causes (relative risk, 2.20 [95% CI, 1.08 to 4.48]) as compared with the quitters. CONCLUSION: The persistent smokers were at greater risk for death than the quitters. Therefore, patients undergoing percutaneous intervention should be encouraged to stop smoking.
Chungcheongnam-do ; Coronary Artery Disease ; Follow-Up Studies ; Humans ; Korea ; Mortality* ; Percutaneous Coronary Intervention* ; Risk Factors ; Smoke* ; Smoking Cessation* ; Smoking*

Background: The elderly have, a higher disease morbidity than other age groups due to a decrease in resistance to the diseaseand have complex diseases, so care should be taken. Accordingly, it is considered important to provide information for improving the health of the elderly. Health information plays an important role in individual health promotion and education, so the degree of exposure to information about oral health of the elderly is expected to have a significant impact on understanding and acquiring information on oral content videos on the importance, prevention, and management of oral health of the elderly in the future. Methods: This study analyzed video content related to oral diseases of the elderly in a total of 150 videos uploaded on YouTubefrom January 1, 2012 to May 13, 2021, using a total of three books of dental hygiene for the elderly. Results: Forty-nine broadcasters accounted for the most of this information. Among the information providers, there were twodental hygienists. They accounted for 1.3% of all the information providers. The highest number of dental hygienists who broadcasted information was 42 in 2019. The average number of views was 37,303 periodontal diseases, the highest. Among the videos, dry mouth was the most common with 34 oral diseases. Conclusion The number of images for each disease varies, so it seems that information should be provided in various ways. Dentalhygienists should widely improve oral health knowledge by providing various dental hygiene management images for each oral disease to improve the oral health of the general public. In addition, based on the information of the Health Insurance Review and Assessment Service, the development and provision of content should be actively carried out so that people can obtain the information they desire.

Rheumatoid arthritis (RA) is a common autoimmune disease that mainly affects the joints and systemic organs, such as the skin, eyes, heart, gastrointestinal tract, and lungs. In particular, among various pulmonary involvements, interstitial lung disease (ILD) is closely related to the selection of anti-rheumatic drugs and the long-term prognosis of patients with RA. Although the exact pathogenesis of RA-ILD is not well defined, several mechanistic pathways, similar to those of idiopathic pulmonary fibrosis, have been elucidated recently. Conversely, RA-related autoantibodies, including anti-cyclic citrullinated peptide antibody, are detectable in circulation and in the lungs, even in the absence of articular symptoms. RA-ILD can also predate years before the occurrence of joint symptoms. This evidence supports the fact that local dysregulated mucosal immunity in the lung causes systemic autoimmunity, resulting in clinically evident polyarthritis of RA. Because the early diagnosis of RA-ILD is important, imaging tests, such as computed tomography and pulmonary function tests, are being used for early diagnosis, but there is no clear guideline for the early diagnosis of RA-ILD and selection of optimal disease-modifying anti-rheumatic drugs for the treatment of patients with RA with ILD. In addition, the efficacy of nintedanib, a new anti-fibrotic agent, for RA-ILD treatment, has been investigated recently.This review collectively discusses the basic and clinical aspects, such as pathogenesis, animal models, diagnosis, and treatment, of RA-ILD.

Purpose: To investigate the risk factors associated with hypospadias in very low birth weight (VLBW) infants (VLBWIs). Methods: We retrospectively analyzed 729 infants born at ≥24 weeks of gestational age and weighing <1,500 g from January 2012 to December 2022. We assessed the prevalence of hypospadias by birth weight percentiles and also compared the demographics and placental histopathology of the infants with hypospadias (n=52) and those without hypospadias (n=677). Results: Of the 729 patients analysed, hypospadias was recorded in 26 (20.3%), 14 (26.9%), and 12 (2.5%) infants in the <3rd, ≥3rd–<10th, and ≥10th–<90th percentiles, respectively. Of all of the patients with hypospadias, 50% had birth weights <3rd percentile (p<0.001). The hypospadias group demonstrated a longer mean gestational age (30.1 weeks vs. 27.9 weeks, p<0.001), lower incidence of maternal pregnancy-induced hypertension (48.1% vs. 17.3%, p<0.001), lower incidence of premature rupture of membrane (11.5% vs. 27.1%, p=0.013), lower acute chorioamniotic maternal response (9.1% vs. 35.2%, p<0.001), and higher maternal underperfusion (95.5% vs. 71.9%, p<0.001). Conclusion The frequency of hypospadias was found to be the highest among VBLWIs <3rd percentile, who were severely small for their gestational age (SGA). Additionally, the incidence increased with a decreasing birth weight. Physical examination is necessary at birth for VLBWIs classified as SGA. Moreover, the data on the incidence of hypospadias among VLBWIs in neonatal intensive care units can assist in tracking counseling from the prenatal to the postnatal period for patients born <3rd percentile.

BACKGROUND: To retrospectively assess whether the response of subtrochanteric lateral cortex (STLC) is different according to the bisphosphonate agents in terms of bone mineral density (BMD) change. METHODS: A total of 149 subjects, who had 2- to 4-year interval follow-up of BMD using dual energy X-ray absorptiometry (DXA), were included in this retrospective study divided into following 3 groups: control group (no consumption of any anti-osteoporotic drugs, n=38), alendronate group (naïve alendronate users, n=48), risedronate group (naïve risedronate users, n=63). BMD was measured at the STLC and subtrochanteric medial cortex (STMC) in each patient by drawing rectangular ROIs at the bone cortices. The percent change of BMD at the STLC were compared between the aforementioned 3 groups by using analysis of covariance model to control five independent variables of age, body mass index, percent change of STMC, hip axis length, time interval between DXA examinations. RESULTS: The least square mean values±standard deviation of the percent change of BMD in the control, alendronate, and risedronate groups were 1.46±1.50, 2.23±1.26, and 6.96±1.11, respectively. The risedronate group showed significantly higher change of BMD percentage compared with the control (adjusted P=0.012) or alendronate (adjusted P=0.016) groups. CONCLUSIONS: The percent change of BMD at the STLC in the risedronate user group was greater than the alendronate and control groups. The implication of these changes needs to be further verified.
Absorptiometry, Photon ; Alendronate ; Body Mass Index ; Bone Density* ; Femur ; Follow-Up Studies ; Hip ; Humans ; Retrospective Studies ; Risedronate Sodium

A 38-year-old female presented with abdominal pain, radiating to her back. Her medical history included type 2 diabetes, which had been uncontrolled for 8 months. Her initial laboratory tests showed marked hyperglycemia, metabolic acidosis, and elevated serum amylase and lipase levels, although the results were inconclusive in terms of a direct diagnosis of acute pancreatitis (AP). Abdominal computed tomography showed only minimal fluid collection at the pancreas tail. As her serum triglyceride (TG) level was 9,884 mg/dL, we made a working diagnosis of AP due to hypertriglyceridemia, and she was treated with massive hydration with an insulin infusion. Subsequently, she recovered rapidly from the abdominal pain, her serum glucose was controlled, and her serum TG decreased. Hypertriglyceridemia is a well-accepted underlying cause of AP. When extremely high hypertriglyceridemia is detected in patients with type 2 diabetes or metabolic syndrome, complications should be considered and managed.
Abdominal Pain ; Acidosis ; Adult ; Amylases ; Blood Glucose ; Diabetes Mellitus, Type 2 ; Diagnosis ; Female ; Humans ; Hyperglycemia ; Hypertriglyceridemia ; Insulin ; Lipase ; Pancreas ; Pancreatitis* ; Triglycerides

Purpose: Hypothermia upon admission to the neonatal intensive care unit (NICU) contributes significantly to various neonatal complications, particularly in preterm infants. This study aimed to assess the impact of quality improvement (QI) interventions, including using plastic bags and head caps, and adjusting delivery room temperatures, on improving the admission body temperature and reducing hypothermia in infants born at less than 32 weeks or weighing 1,500 g. Methods: This study retrospectively analyzed the medical records of infants born at less than 32 weeks or weighing 1,500 g who admitted to the NICU at Samsung Medical Center from January 2022 to February 2024. The QI program that was initiated in April 2023 focused on managing admission temperatures using plastic bags and head caps, and maintaining delivery room temperatures at ≥25 °C. The admission temperature and short-term outcomes pre- and post-QI were compared. Results: In a study of 270 patients, implementing QI initiatives significantly raised the admission temperature from 36.2±0.5 to 36.4±0.4 °C (p<0.01), particularly impacting infants weighing ≥1,000 g, in whom mild hypothermia occurrences dropped from 76.3% to 43.9% (p<0.01). This improvement in temperature management significantly decreased both mild and severe hypothermia rates post-QI. Additionally, implementing all three initiatives was more effective than when two or fewer initiatives were implemented. Conclusion Simple and cost-effective QI interventions can increase admission temperatures and decrease hypothermia in neonates. Further research is essential to explore the long-term outcomes and develop effective hypothermia management strategies in neonatal care.

Fulminant type 1 diabetes is a distinct subtype of type 1 diabetes mellitus that is characterized by sudden, complete destruction of pancreatic beta cells at the disease onset. Since the disease was first described in 2000 in Japan, a number of case reports have also been published in Korea. However, this disease entity is still not well defined. A 48-year old man with no medical history was admitted with diabetic ketoacidosis. Fulminant type 1 diabetes was diagnosed and he was discharged with multiple insulin injections. His serum glucose level was well controlled in the outpatient clinic. A month later, diabetic ketoacidosis occurred again following a diagnostic colonoscopy. This case suggests that fulminant type 1 diabetes is an aggressive disease in which small stimuli can provoke ketoacidosis. Therefore, for tests that require fasting, close observation by medical staff and patient education about the disease is essential.
Ambulatory Care Facilities ; Blood Glucose ; Colonoscopy* ; Diabetes Mellitus, Type 1 ; Diabetic Ketoacidosis* ; Fasting ; Humans ; Insulin ; Insulin-Secreting Cells ; Japan ; Ketosis ; Korea ; Medical Staff ; Patient Education as Topic