Article
Genetics & Heredity
Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst-Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink-Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke
Summary: The Dutch MFS growth study shows that genetic background and variant types of MFS influence the height and body shape of patients, and Dutch patients have lower height increase compared to patients from other countries.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Medicine, General & Internal
Sinyoung Kang, Seung Won Lee, Hye Ryeong Cha, Shin-Hye Kim, Man Yong Han, Mi Jung Park
Summary: The study found that breastfed Korean children were shorter and lighter compared to those formula-fed in the first few years of life, but no significant difference was observed after 4 years old. Breastfed boys and girls had significantly lower body mass index at the age of 2. Breastfed children were taller and heavier compared to the 50th percentile of WHO-CGS under the age of 2 years 6 months, especially under 1 year old.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2021)
Article
Agriculture, Dairy & Animal Science
A. L. Silva, T. J. DeVries, E. C. Fernandes, M. Marcondes
Summary: This study aimed to develop equations for estimating growth of dairy heifers based on measures of withers height, body weight, and age. Four models were constructed and evaluated, showing that body weight and the body weight-to-height ratio increase linearly with age, while body weight follows an exponential growth pattern based on height. The model also predicted that heifers reach a maximum height of 138.6 cm at 806 days of age.
JOURNAL OF DAIRY SCIENCE
(2021)
Review
Endocrinology & Metabolism
Kelly A. Mason, Alan D. Rogol
Summary: Since the first description of cystic fibrosis (CF) in 1938, there have been significant discoveries and innovations in the field that have had a profound impact on the quality of life for patients. Interventions such as improving nutritional status, pulmonary function, and reducing exacerbations have positively influenced children and adolescents with CF.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Moira S. Cheung, Tim J. Cole, Paul Arundel, Nicola Bridges, Christine P. Burren, Trevor Cole, Justin Huw Davies, Lars Hagenas, Wolfgang Hogler, Anthony Hulse, Avril Mason, Ciara Mcdonnell, Andrea Merker, Klaus Mohnike, Ataf Sabir, Mars Skae, Anya Rothenbuhler, Justin Warner, Melita Irving
Summary: This study generated growth reference charts for height, weight, and head circumference for children with hypochondroplasia, a rare skeletal dysplasia causing mild short stature. These charts are important in clinical care as they help identify comorbidities affecting growth and development, and serve as benchmarks for future interventional research studies and trials.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Medicine, General & Internal
Muhammad Za'im Sahul Hameed, Rosnah Sutan, Zaleha Abdullah Mahdy, Azmi Mohd Tamil, Saperi Sulong
Summary: Despite advanced healthcare technology and quality hospital services in Malaysia, high rates of adverse perinatal outcomes are still reported. This study aims to create a model for evaluating individualized birth weight customized for maternal characteristics in the Malaysian population. The design and construction of a Malaysian customized fetal growth chart (GROW-MY) based on baseline birth data is being implemented and tested for feasibility, taking into consideration feedback from caregivers and patients.
FRONTIERS IN MEDICINE
(2021)
Article
Pediatrics
Lauren C. Hyer, Emily R. Shull, Bob Fray, David E. Westberry
Summary: A retrospective review of height/length and weight for 206 children with AMC was performed, which showed that children with AMC tend to be smaller in stature and weight compared with typically developing (TD) children, particularly in the first 36 months of life. Therefore, the development of AMC-specific growth charts is necessary.
CLINICAL PEDIATRICS
(2023)
Article
Pediatrics
Tatjana Tamara Koenig, Maria-Christina Stefanescu, Melanie Wildermuth, Luisa Maria Frankenbach, Oliver J. Muensterer, Emilio Gianicolo
Summary: This study aimed to calculate specific percentiles for body weight and height in children with esophageal atresia born between 2001 and 2021, accounting for prematurity and congenital heart disease (CHD). The results showed that children with esophageal atresia had lower bodyweight and height compared to the general population. Specific percentile curves are helpful for evaluating their growth and development.
Article
Multidisciplinary Sciences
Gayl Humphrey, Rosie Dobson, Varsha Parag, Marion Hiemstra, Stephen Howie, Samantha Marsh, Susan Morton, Dylan Mordaunt, Angela Wadham, Chris Bullen
Summary: This study aimed to co-create and test an app to provide parents with feedback on their child's growth and information about nutrition and activity. Findings showed high satisfaction with the app, especially among parents of younger children, indicating its potential effectiveness in supporting parents' understanding of growth trajectories.
Article
Pediatrics
Marie-Eve Robinson, Damian Rauch, Francis H. Glorieux, Frank Rauch
Summary: This study aimed to generate standardized osteogenesis imperfecta (OI) type- and sex-specific growth charts across all pediatric ages. We found that age was associated with a decline in height z-scores, which was more pronounced in females. We also produced height multiplier curves to predict adult height in children with OI. These findings are of great importance for assessing the growth of individuals with OI from infancy to adulthood.
PEDIATRIC RESEARCH
(2023)
Article
Endocrinology & Metabolism
Oluwakemi Lokulo-Sodipe, Eloise Giabicani, Ana P. M. Canton, Nawfel Ferrand, Jenny Child, Emma L. Wakeling, Gerhard Binder, Irene Netchine, Deborah J. G. Mackay, Hazel M. Inskip, Christopher D. Byrne, I. Karen Temple, Justin H. Davies
Summary: The results of this study support the use of GH treatment in SRS patients to increase height SDS. GH treatment was also associated with lower adult BMI, indicating improved metabolic health even after discontinuation of therapy. These findings provide important insights for clinical management of SRS patients.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Sung Eun Kim, Dong-Yun Lee, Min-Sun Kim, Sung Yoon Cho, Dong-Kyu Jin, DooSeok Choi
Summary: The study suggests that initiating height control treatment before the age of 10.5 years is effective in female patients with Marfan syndrome.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Geriatrics & Gerontology
Nick Lasse Beetz, Christoph Maier, Seyd Shnayien, Tobias Daniel Trippel, Petra Gehle, Uli Fehrenbach, Dominik Geisel
Summary: This study analyzed body composition using AI-based tissue segmentation in patients with Marfan syndrome to identify predictors of progressive aortic enlargement. Results showed significantly higher skeletal muscle density in patients with progressive aortic enlargement, and both skeletal muscle density and psoas muscle index were found to predict aortic enlargement.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2021)
Article
Psychology, Multidisciplinary
Meysam Rostamzadeh Samarein, Mohammad Hossein Samanipour, Foad Asjodi, Pooya Shokati, Zanyar Fallahi, Thomas E. Brownlee, Joao Paulo Brito, Nicola Luigi Bragazzi, Rafael Oliveira
Summary: This study compared soccer referees from the first and second divisions and assistant referees in Iran and analyzed the associations of various body shape indexes with body fat percentage. The results indicated differences in body composition variables between the different groups, with assistant referees showing higher values. The regression analysis revealed certain associations between body fat percentage and specific indexes in each group.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Health Care Sciences & Services
Jeanie L. Y. Cheong, Joy E. Olsen, Tayla Konstan, Rheanna M. Mainzer, Leah M. Hickey, Alicia J. Spittle, John D. Wark, Michael M. Cheung, Suzanne M. Garland, Julianne Duff, Marissa Clark, Penelope Stevens, Lex W. Doyle
Summary: This study tracked the growth of children born extremely preterm (EP, <28 weeks' gestation) beyond late adolescence and found that the gap in weight and BMI between EP and term-born controls decreased with age. Greater increases in BMI were associated with poorer cardiometabolic health, and the association between being overweight and poorer cardiometabolic health strengthened with age. The catch-up growth in weight and BMI in survivors born EP may not be desirable, and being overweight from mid-childhood may provide a window for intervention.
LANCET REGIONAL HEALTH-WESTERN PACIFIC
(2023)
Article
Endocrinology & Metabolism
Niloufar Ansari, Tsuyoshi Isojima, Blessing Crimeen-Irwin, Ingrid J. Poulton, Narelle E. McGregor, Patricia W. M. Ho, Mark R. Forwood, Christopher S. Kovacs, Evdokia Dimitriadis, Jonathan H. Gooi, T. John Martin, Natalie A. Sims
Summary: PTHrP is a pleiotropic regulator of tissue homeostasis, with significant impact on bone development. The study found that parental genotype plays a crucial role in influencing bone size and strength in offspring under the same experimental conditions, indicating a maternal influence on skeletal size.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Ju Ryoung Moon, Jinyoung Song, June Huh, I-Seok Kang, Jung Hawn Kim, Seung Woo Park, Sung-A Chang
Summary: The study found that music intervention significantly reduced anxiety and stress responses in patients undergoing interventional cardiac catheterisation, suggesting that this intervention should be considered in clinical management.
CARDIOLOGY IN THE YOUNG
(2023)
Article
Endocrinology & Metabolism
Tsuyoshi Isojima, Emma C. Walker, Ingrid J. Poulton, Narelle E. McGregor, Ian P. Wicks, Jonathan H. Gooi, T. John Martin, Natalie A. Sims
Summary: This study reveals that G-CSFR deficiency leads to further bone loss and delayed cortical consolidation in the skeleton. By enhancing STAT1/3 signaling and promoting local angiogenesis, bone resorption, and bone formation, G-CSFR deficiency affects bone maturation and stability.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Medicine, General & Internal
Duk-Kyung Kim, Shin Yi Jang, Sung -A Chang, Taek Kyu Park
Summary: Moyamoya disease is a steno-occlusive disease of the distal cerebral arteries. A specific mutation in the RNF213 gene is associated with different manifestations in homozygous and heterozygous patients.
PRECISION AND FUTURE MEDICINE
(2022)
Article
Medicine, General & Internal
Noeul Kang, Ki Hong Choi, Sung Mok Kim, Duk-Kyung Kim, Kiick Sung, Dong-Chull Choi
Summary: Idiopathic hypereosinophilic syndrome (iHES) is a rare systemic disease characterized by persistent peripheral eosinophilia for more than 6 months, with organ damage and no primary cause for the eosinophilia. Coronary artery aneurysm (CAA) is a rare but life-threatening complication. We report a case of CAA with thrombosis in a patient with well-controlled iHES for several years. Close surveillance and monitoring for complications are crucial even with modest disease control.
YONSEI MEDICAL JOURNAL
(2023)
Letter
Pediatrics
Heirim Lee, Jinyoung Song, I-Seok Kang, June Huh, Jin A. Yoon, Yong Beom Shin
CLINICAL AND EXPERIMENTAL PEDIATRICS
(2022)
Article
Genetics & Heredity
Eungjun Yoon, Jong Kwon Lee, Taek Kyu Park, Sung-A Chang, June Huh, Jong-Won Kim, Duk-Kyung Kim, Ja-Hyun Jang
Summary: This study reassessed variants of uncertain significance (VUS) in the FBN1 gene found in the institution. By following the latest guidelines, literature review, and additional genetic testing, a significant number of VUS were reclassified. Variant reassessment is recommended at regular intervals or when there is a major change in variant interpretation principles.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Won Young Heo, Shin Yi Jang, Taek Kyu Park, Chang-Seok Ki, Jong-Won Kim, Duk-Kyung Kim, Ja-Hyun Jang
Summary: In this study, two patients with vEDS who were not diagnosed by conventional Sanger sequencing were reported. Targeted panel or whole-genome sequencing was performed, and cDNA sequencing was used for diagnosis. The results demonstrated that cDNA sequencing was a useful auxiliary method, especially considering the limited sensitivity of the splicing prediction tool.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Minjung Bak, Minyeong Kim, Boram Lee, Eun Kyoung Kim, Taek Kyu Park, Jeong Hoon Yang, Duk-Kyung Kim, Sung -A Chang
Summary: This study aimed to understand the nature of rapid RV failure syndrome with a suspected diagnosis of PTTM for better clinical management. The study found that rapid RV failure syndrome showed a progressive course from symptom onset to death, and chemotherapy had limited impact on patient survival. Other treatment methods did not improve the patient's prognosis.
KOREAN CIRCULATION JOURNAL
(2023)
Article
Medicine, General & Internal
Yoonha Lee, Minseung Kim, Kyeongeun Oh, Eungu Kang, Young-Jun Rhie, Jieun Lee, Yong Hee Hong, Young-Lim Shin, Jae Hyun Kim
Summary: This study analyzed the differences in clinical presentations of newly diagnosed patients with type 1 diabetes (T1D) and type 2 diabetes (T2D) during the pre-pandemic and pandemic periods. The findings showed that during the pandemic, the proportion of newly diagnosed T1D patients with diabetic ketoacidosis (DKA) increased, and clinical parameters deteriorated.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2022)
Review
Medicine, General & Internal
Junho An, Yoojin Nam, Hyoun Cho, Jeonga Chang, Duk-Kyung Kim, Kyung Soo Lee
Summary: In acute pulmonary embolism (PE), circulatory failure and systemic hypotension are important predictors of poor prognosis. While pulmonary artery (PA) clot loads can indicate the severity of the current episode of PE or treatment effectiveness, they cannot directly predict right ventricular (RV) failure or patient death. Pulmonary vascular resistance and patient prognosis are not solely determined by mechanical obstruction of PAs by intravascular clot loads on computed tomography pulmonary angiography (CTPA), but also by vasoactive amines, reflex PA vasoconstriction, and systemic arterial hypoxemia occurring during acute PE.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2022)
Article
Medicine, General & Internal
Shin Yi Jang, Eun Kyoung Kim, June Huh, Jinyoung Song, I-Seok Kang, Seung Woo Park, Duk-Kyung Kim, Sung-A Chang
Summary: The study found that the survival rate of IPAH patients in Korea decreases with age, and the risk of IPAH significantly increases in patients with other risk factors.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2022)
Review
Pediatrics
Jieun Lee, Jae Hyun Kim
Summary: Pediatric obesity is a serious public health issue that increases cardiovascular risk and endocrine comorbidities. Early multidisciplinary team management and screening for these comorbidities are necessary.
CLINICAL AND EXPERIMENTAL PEDIATRICS
(2021)
Article
Medicine, General & Internal
Shin Yi Jang, June Huh, Eun Kyoung Kim, Sung-A Chang, Jinyoung Song, I-Seok Kang, Seung Woo Park
Summary: In Korean adults with congenital heart disease (ACHD), atrial fibrillation (AF) occurs more frequently and has a worse prognosis compared to the general population. AF is associated with increased risk of death in ACHD, especially with aging.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2021)