1.A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis
Susan Taejung KIM ; Hyeseon KIM ; Hyun Ho KIM ; Na Hyun LEE ; Yeaseul HAN ; Se In SUNG ; Yun Sil CHANG ; Won Soon PARK
Yonsei Medical Journal 2019;60(5):484-486
Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethal form of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had to be supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolonged parenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.
Edema
;
Ethnic Groups
;
Gestational Age
;
Hepatomegaly
;
High-Frequency Ventilation
;
Humans
;
Hyperostosis
;
Hyperostosis, Cortical, Congenital
;
Hypertension, Pulmonary
;
Infant, Newborn
;
Infant, Premature
;
Karyotype
;
Korea
;
Liver Failure
;
Micrognathism
;
Parenteral Nutrition
;
Polyhydramnios
;
Shock, Septic
2.Inguinal hernia surgery in Korea: nationwide data from 2007–2015
Seung Rim HAN ; Hyung Jin KIM ; Nam Hee KIM ; Sukhyun SHIN ; Ri Na YOO ; Gun KIM ; Hyeon Min CHO
Annals of Surgical Treatment and Research 2019;97(1):41-47
PURPOSE: The aim of this study is to analyze inguinal hernia in Korea based on the nationwide data. METHODS: Retrospective analysis of nationwide data obtained from the Health Insurance Review & Assessment Service database for surgical repair of inguinal hernia from January, 2007 to December, 2015 was performed. RESULTS: A total of 314,238 cases of inguinal hernia surgery were performed during 9 years. The mean number of inguinal hernia surgery per year was 34,604 (range, 30,065–36,928). The proportion of male patient was 87%. Patients between the age of 1 to 5 years (17.3%) and of 60 to 69 years (17.4%) constituted the 2 dominant groups for inguinal hernia repair. A slight increase in repair for recurrent inguinal hernia, 1.9% to 3.2%, was observed from 2007 to 2015. The rate of concurrent bowel resection decreased from 1.9% to 0.6%. The total cost of inguinal hernia surgery was increased up to 1.68 times from 2007 to 2015 ($856 to $1,439), although the number of hospital days was decreased from 4.7 to 3.7 days. The rate of laparoscopic surgery was increased to 29.5% in 2015. CONCLUSION: A mean number of 34,604 cases of inguinal hernia surgery have been carried out annually in Korea. The age distribution for inguinal hernia repair demonstrates bimodal peak at early childhood and old age. The proportion of laparoscopic surgery of inguinal hernia has been increasing for the past 9 years. The length of hospital stay and the rate of combined bowel resection have decreased.
Age Distribution
;
Diagnosis-Related Groups
;
Hernia, Inguinal
;
Humans
;
Insurance, Health
;
Korea
;
Laparoscopy
;
Length of Stay
;
Male
;
Retrospective Studies
3.The Influence of Ethnicity on Exclusively Breast-Fed Infants' Anthropometry in a Multiethnic Asian Population.
James G HUANG ; Shi Hua CHAN ; Le Ye LEE
Annals of the Academy of Medicine, Singapore 2018;47(6):208-215
INTRODUCTIONWe studied the effects of ethnicity on early infant growth patterns in exclusively breast-fed (EBF) infants from a Singaporean multiethnic population. This was a prospective cohort study conducted in National University Hospital, Singapore.
MATERIALS AND METHODSHealthy, EBF infants born at-term completing 37 weeks and above, and whose birthweight was appropriate for gestational age (>10 centile, <90 centile) were recruited. Infants were required to be EBF at least until the minimum age of weaning. All infants who were preterm and premature, formula-fed, required Intensive/High Dependency care, or born with major congenital anomalies were excluded. A multivariable linear regression analysis was conducted at 5 predetermined time-points (birth; 4-8 weeks; 3-4, 5-8, 12 months) to study the effects of antenatal/parental factors on infant growth.
RESULTSA total of 213 infants were recruited. Maternal age, height and body mass index positively influenced birthweights while maternal hypertension and paternal smoking negatively influenced birthweights. Mean duration of breastfeeding was 8.9 months. Chinese ethnicity did not influence birth anthropometry, but was the single consistent factor that significantly increased weight and length Z-scores from 4-8 weeks until 8 months of life. Chinese ethnicity did not influence head growth throughout the first year of life.
CONCLUSIONEBF Chinese infants have increased weights and lengths compared to non-Chinese infants until 8 months' age, despite similar birth anthropometry. This period of discrepant growth coincides with the average duration of breastfeeding. We hypothesise that ethnic variations in breast milk macronutrient composition influence early somatic growth in infants.
Anthropometry ; methods ; Asian Continental Ancestry Group ; statistics & numerical data ; Birth Weight ; Body Mass Index ; Breast Feeding ; ethnology ; Child Development ; physiology ; Ethnic Groups ; Female ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Male ; Singapore ; epidemiology
4.Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.
Nirmala Dushyanthi SIRISENA ; Adebowale ADEYEMO ; Anchala Ishani KURUPPU ; Nilakshi SAMARANAYAKE ; Vajira Harshadeva Weerabaddana DISSANAYAKE
Journal of Breast Cancer 2018;21(2):165-172
PURPOSE: Several single nucleotide polymorphisms (SNPs) have been reported to be associated with clinicopathological profiles in sporadic breast cancer based on studies conducted on major population groups. The knowledge of the effects of these common genetic variants in South Asian populations remains limited. The present study aimed to investigate the association between a selected set of SNPs and the clinicopathological profiles in sporadic breast cancer in Sri Lankan women. METHODS: A total of 350 postmenopausal women with histologically confirmed invasive breast cancer were genotyped for 58 SNPs located in 36 breast cancer related genes. The clinicopathological factors that were investigated included age of onset, tumor histologic grade, and lymph node involvement, as well as estrogen receptor (ER), progesterone receptor, and human epidermal growth factor receptor 2 (HER2) status. Association testing was performed using logistic regression models adjusted for confounding factors. RESULTS: Seven SNPs showed significant associations with clinicopathological profiles in breast cancer. The G allele of BRCA1:rs799917 (p=0.047; β [standard error; SE]=−1.069 [0.537]) and the G allele of NQO2:rs17136117 (p=0.040, β [SE]=1.901 [0.923]) were found to be associated with age of onset between 50 and 59 years. The C allele of CDH1:rs13689 (odds ratio [OR], 2.121; p=0.033) was found to be associated with ER-positive breast cancer. The A allele of AKT1:rs1130214 (OR, 2.095; p=0.011) and the C allele of NQO2:rs2071002 (OR, 1.632; p=0.045) were associated with HER2-positive breast cancer. The C allele of BRCA2:rs15869 (OR, 1.600; p=0.041) and the C allele of CCND1:rs7177 (OR, 1.555; p=0.041) were associated with high tumor histologic grade. CONCLUSION: The common genetic variants identified in the AKT1, BRCA1, BRCA2, CCND1, CDH1, and NQO2 genes could serve as potential clinical and prognostic biomarkers in sporadic breast cancer patients. Further studies are required to validate our current findings in other populations.
Age of Onset
;
Alleles
;
Asian Continental Ancestry Group
;
Biomarkers
;
Breast Neoplasms*
;
Breast*
;
Estrogens
;
Female
;
Humans
;
Logistic Models
;
Lymph Nodes
;
Polymorphism, Single Nucleotide
;
Population Groups
;
Postmenopause
;
Prognosis
;
Receptor, Epidermal Growth Factor
;
Receptors, Progesterone
5.Clinical phenotypes of Korean patients with Behcet disease according to gender, age at onset, and HLA-B51.
Hee Jung RYU ; Mi Ryoung SEO ; Hyo Jin CHOI ; Han Joo BAEK
The Korean Journal of Internal Medicine 2018;33(5):1025-1031
BACKGROUND/AIMS: The clinical manifestations of Behcet disease (BD) have been reported to differ according to country, region, and race. Gender, onset age, and human leukocyte antigen (HLA)-B51 have also been known as the factors that influence the clinical features of BD. The aim of this study is to investigate the clinical phenotypes of Korean patients who visited the rheumatology clinic with BD with respect to gender, onset age, and HLA-B51. METHODS: Total 193 Korean patients (129 females and 64 males) fulfilling the international criteria for BD were retrospectively assessed. RESULTS: The mean age at disease onset and disease duration of the BD patients were 32.2 ± 11.1 and 14.2 ± 9.3 years, retrospectively. Females suffered more frequently from genital ulcers (90.7% vs. 75.0%, p < 0.01), peripheral arthritis (67.4% vs. 43.8%, p < 0.01), and inf lammatory low back pain (38.8% vs. 23.4%, p = 0.03) than males, while skin involvement was more frequent in males than in females (90.6% vs. 75.2%, p = 0.01). The patients with late onset of BD (> 40 years) suffered from neurologic involvement (15.9% vs. 4.2%, p = 0.007) more frequently than those with early onset of BD. The patients with HLA-B51 showed earlier onset of disease than without HLA-B51 (28.3 ± 11.4 years vs. 33.8±11.6 years, p = 0.02) and the neurologic and gastrointestinal involvements were more frequent in the patients without HLA-B51 than with HLA-B51 (17.2% vs. 2.5%, p = 0.02 and 20.7% vs. 2.5%, p = 0.01, respectively). CONCLUSIONS: The clinical phenotypes in Korean patients with BD may be influenced by gender, onset age and HLA-B51.
Age of Onset*
;
Arthritis
;
Behcet Syndrome*
;
Continental Population Groups
;
Female
;
Gender Identity
;
HLA-B51 Antigen*
;
Humans
;
Leukocytes
;
Low Back Pain
;
Male
;
Phenotype*
;
Retrospective Studies
;
Rheumatology
;
Skin
;
Ulcer
6.Prostate Cancer Prevention Trial risk calculator for evaluating the risk of prostate cancer in the high-risk Chinese population.
Xiao-Dong ZHU ; An ZHENG ; Zhi-Qian WANG ; Qiang SHAO
National Journal of Andrology 2018;24(2):142-146
Objective:
The Prostate Cancer Prevention Trial risk calculator (PCPT-RC) is an online tool for assessing the risk of prostate cancer (PCa) based on age, race, serum PSA, biopsy history, family history, and other factors. This study aimed to investigate the value, sensitivity and specificity of the PCPT-RC 2.0 in assessing the risk of PCa in the Chinese high-risk population.
METHODS:
This study included 622 patients with the high risk of PCa characterized by high serum PSA (PSA >3 μg/L) or abnormality in digital rectal examination or imaging of the prostate. According to the results of prostate biopsy, we divided the patients into a PCa and a non-PCa group and used the PCPT-RC 2.0 for evaluation of all the cases followed by statistical analysis.
RESULTS:
PCa was detected in 264 (42.4%) of the 622 patients, including 126 cases of high-grade malignancy. Compared with the non-PCa group, the PCa patients showed a significantly older age ([68.40 ± 7.30] vs [72.80 ± 7.20] yr, P <0.001), higher serum PSA level ([11.20 ± 7.76] vs [15.06 ± 10.65], P <0.001), and higher PCPT risk score ([37.0 ± 10.8]% vs [44.4 ± 12.6]%, P <0.001). The PCPT risk score exhibited a greater area under the ROC curve than the level of serum PSA in evaluating the risk of PCa (0.67 vs 0.61, P <0.05), but no statistically significant difference between the two in predicting the risk of high-grade malignancy (0.67 vs 0.66, P >0.05).
CONCLUSIONS
The PCPT risk score is valuable in predicting the risk of PCa in China, which may play a better role than the serum PSA level in screening PCa and avoid unnecessary prostate biopsy, though its advantage is not so obvious in identifying high-grade malignancy. A prediction tool needs to be established for evaluating the risk of PCa in the Chinese population.
Age Factors
;
Aged
;
Asian Continental Ancestry Group
;
Biopsy
;
China
;
Continental Population Groups
;
Digital Rectal Examination
;
Humans
;
Male
;
Prostate
;
pathology
;
Prostate-Specific Antigen
;
blood
;
Prostatic Neoplasms
;
blood
;
pathology
;
prevention & control
;
ROC Curve
;
Risk Assessment
;
methods
;
Risk Factors
7.Five-Year Review of Patients Presenting with Non-Accidental Injury to a Children's Emergency Unit in Singapore.
Yi Rong CHEW ; Michaela Hl CHENG ; Mei Ching GOH ; Liang SHEN ; Peter Cy WONG ; Sashikumar GANAPATHY
Annals of the Academy of Medicine, Singapore 2018;47(10):413-419
INTRODUCTION:
There is an increasing trend of physical child abuse cases reported in Singapore. Children presenting to the Emergency Department with injuries require a high index of suspicion for clinicians to distinguish those that are abusive in nature.
MATERIALS AND METHODS:
A retrospective study of children with diagnosis of NAI presenting to KK Women's and Children's Hospital (KKH) from June 2011 to May 2016 was conducted.
RESULTS:
There were 1917 cases reported from 1730 subjects, of which: 8.8% of subjects had repeat visits; 55.2% of cases were male; and mean age was 7.69 years. Racial demographics were: Chinese 45.5%, Malay 33.4%, Indian 15.4% and Others 5.9%. The most frequent injuries sustained were head and neck (50.8%), limbs (32.2%), and chest (5.7%). Of the type of injuries, 55% had contusions, 21% had cane marks, 16% had lacerations, 4.4% had burn marks and 1% sustained fractures. Males were more likely to be caned ( <0.001); 54.9% of cases were admitted and 38.9% were discharged. Cases that presented without a parent ( <0.001), were known to Child Protective Service ( <0.001), or had a history of parental substance abuse ( = 0.038), mental illness in caregiver ( = 0.021), or domestic violence ( <0.001) were more likely to require admission.
CONCLUSION
Analysing these factors provide a better understanding of the presentation of NAI cases, including 'red flags' and vulnerable groups who should have better protection.
Age Factors
;
Child
;
Child Abuse
;
prevention & control
;
statistics & numerical data
;
Child, Preschool
;
Cohort Studies
;
Emergency Service, Hospital
;
statistics & numerical data
;
Ethnic Groups
;
statistics & numerical data
;
Female
;
Hospitalization
;
statistics & numerical data
;
Humans
;
Injury Severity Score
;
Male
;
Mandatory Reporting
;
Needs Assessment
;
Physical Abuse
;
prevention & control
;
statistics & numerical data
;
Prevalence
;
Retrospective Studies
;
Risk Assessment
;
Sex Factors
;
Singapore
;
Vulnerable Populations
;
statistics & numerical data
;
Wounds and Injuries
;
diagnosis
;
epidemiology
8.Comparison of Birth Outcomes Based on Maternal Ethnicity in Korea: Korean, Vietnamese, and Chinese, 2010–2015.
Young Hwa SONG ; Kyung Ok KO ; Yung Hyuk LEE ; Jae Woo LIM
Neonatal Medicine 2017;24(2):62-70
PURPOSE: The purpose of this study is to compare birth outcomes based on maternal ethnicity in Korea. METHODS: Using the birth data of Statistics Korea from 2010 to 2015, this study selected data from infants with a Vietnamese mother and Korean father (Vietnamese/Korean group), and a Chinese mother and Korean father (Chinese/Korean group), to compare them with that of a Korean mother and Korean father (Korean/Korean group). The newborn infants' birth outcomes and parental characteristics were investigated, and trends in annual changes were compared. In addition, this study investigated whether the mother's ethnicity affected the mean birth weight. RESULTS: Gestational age and birth weight were highest in the Chinese/Korean group, and were slightly lower in the Korean/Korean and Vietnamese/Korean group, in that order. The highest rate of preterm birth before 37 weeks and low birth weight rate were observed in the Vietnamese/Korean group; 4.62% and 4.26%, respectively. From 2010 to 2015, the mean gestational age decreased in all the three groups, and the preterm birth rate increased at gestational ages less than 37 weeks. However, the birth weight decreased only in the Korean/Korean group, but increased in the Chinese/Korean and Vietnamese/Korean groups. In addition, we found that factors such as parents' educational levels, percentage of hospital births, and appropriate maternal age improved in the Vietnamese/Korean group. CONCLUSION: This study confirms that the mean birth weight and low birth weight rate are affected by maternal ethnicity in Korea. Therefore, careful research and active national support policies are needed.
Asian Continental Ancestry Group*
;
Birth Weight
;
Continental Population Groups
;
Cultural Diversity
;
Emigrants and Immigrants
;
Fathers
;
Gestational Age
;
Humans
;
Infant
;
Infant, Low Birth Weight
;
Infant, Newborn
;
Korea*
;
Maternal Age
;
Mothers
;
Parents
;
Parturition*
;
Premature Birth
9.Prevalence and Risk Factors of Caregiver Dependence among Older Adults in a Southeast Asian Population.
Louisa PICCO ; Edimansyah ABDIN ; Janhavi A VAINGANKAR ; Shirlene PANG ; Saleha SHAFIE ; Rajeswari SAMBASIVAM ; Siow Ann CHONG ; Mythily SUBRAMANIAM
Annals of the Academy of Medicine, Singapore 2016;45(11):486-494
INTRODUCTIONCurrently very little is known about the prevalence or magnitude of caregiver dependence in Singapore and thus, there is a need to fill this gap in this multiethnic ageing population. This study aims to determine the prevalence and risk factors of caregiver dependence among older adults in Singapore.
MATERIALS AND METHODSData were used from the Well-being of the Singapore Elderly (WiSE) study, a nationally representative, cross-sectional survey among Singapore residents aged 60 years and above. Caregiver dependence was ascertained by asking the informant (the person who knows the older person best) a series of open-ended questions about the older person's care needs.
RESULTSThe older adult sample comprised 57.1% females and the majority were aged 60 to 74 years (74.8%), while 19.5% were 75 to 84 years, and 5.7% were 85 years and above. The prevalence of caregiver dependence was 17.2% among older adults. Significant sociodemographic risk factors of caregiver dependence included older age (75 to 84 years, and 85 years and above,<0.001), Malay and Indian ethnicity (<0.001), those who have never been married (= 0.048) or have no education (= 0.035), as well as being homemakers or retired (<0.001). After adjusting for sociodemographic variables and all health conditions in multiple logistic regression analyses, dementia (<0.001), depression (= 0.011), stroke (= 0.002), eyesight problems (= 0.003), persistent cough (= 0.016), paralysis (<0.001), asthma (= 0.016) and cancer (= 0.026) were significantly associated with caregiver dependence.
CONCLUSIONVarious sociodemographic and health-related conditions were significantly associated with caregiver dependence. Dependent older adults will put greater demands on health and social services, resulting in greater healthcare expenditures. Hence, effective planning, services and support are crucial to meet the needs of dependent older adults and their caregivers.
Activities of Daily Living ; Age Factors ; Aged ; Aged, 80 and over ; Asthma ; epidemiology ; Caregivers ; Cough ; epidemiology ; Cross-Sectional Studies ; Dementia ; epidemiology ; Depression ; epidemiology ; Educational Status ; Ethnic Groups ; Female ; Humans ; India ; Logistic Models ; Malaysia ; Male ; Marital Status ; Middle Aged ; Multivariate Analysis ; Neoplasms ; epidemiology ; Occupations ; statistics & numerical data ; Paralysis ; epidemiology ; Prevalence ; Retirement ; statistics & numerical data ; Risk Factors ; Singapore ; epidemiology ; Stroke ; epidemiology ; Vision Disorders ; epidemiology
10.Disability in Singapore's Elderly Population.
Mithila MAHESH ; Edimansyah ABDIN ; Janhavi Ajit VAINGANKAR ; Louisa PICCO ; Anita JEYAGURUNATHAN ; Saleha Binte SHAFIE ; Shirlene PANG ; Vathsala SAGAYADEVAN ; Esmond SEOW ; Siow Ann CHONG ; Mythily SUBRAMANIAM
Annals of the Academy of Medicine, Singapore 2016;45(7):284-296
INTRODUCTIONDisability increases an individual's dependence and negatively impacts their physical, mental, and social functioning. The current study aims to establish the prevalence and risk factors of disability in Singapore's population.
MATERIALS AND METHODSData was extracted from the Well-being of the Singapore Elderly (WiSE) study. This cross-sectional study recruited participants aged 60 years and above (n = 2421) who were representative of Singapore's multiethnic population. We used the World Health Organization Disability Assessment Schedule (WHODAS) 2.0 to assess the severity of disability in our sample while establishing its associations and correlations with cognitive levels, sociodemographic variables, and chronic illness.
RESULTSCognitive deficits, old age, female gender, Malay and Indian ethnicity, lack of education, retired or homemaker status, presence of chronic illness (specifically stroke, heart problems, depression, and dementia) were found to be significantly associated with disability in Singapore's elderly population. As hypothesised, participants with deficits in cognition were more likely to indicate higher WHODAS scores.
CONCLUSIONThe findings highlighted specific factors associated with disability in this multiethnic population. The identification of these factors would lead the way to the development of appropriate interventions.
Age Factors ; Aged ; Aged, 80 and over ; Chronic Disease ; Cognitive Dysfunction ; epidemiology ; Cross-Sectional Studies ; Dementia ; epidemiology ; Depression ; epidemiology ; Disabled Persons ; Educational Status ; Ethnic Groups ; statistics & numerical data ; Female ; Heart Diseases ; epidemiology ; Humans ; India ; Malassezia ; Male ; Middle Aged ; Occupations ; statistics & numerical data ; Prevalence ; Retirement ; statistics & numerical data ; Risk Factors ; Sex Factors ; Singapore ; epidemiology ; Stroke ; epidemiology

Result Analysis
Print
Save
E-mail