Article
Biochemistry & Molecular Biology
Elena Spinetti, Pietro Delre, Michele Saviano, Dritan Siliqi, Gianluca Lattanzi, Giuseppe Felice Mangiatordi
Summary: Shwachman-Diamond Syndrome (SDS) is a rare genetic disease with no specific treatment currently available. This study used comparative molecular dynamics simulations to analyze three SBDS mutants and found that both an open and closed conformation of SBDS are necessary for its proper function, providing new insights into SDS pathogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Huihan Tan, Dequan Su, Zhiqiang Zhuo
Summary: This study analyzed the genetic abnormalities and clinical manifestations of SDS, showing that elevated transaminase and restricted growth are common initial symptoms. Genetic testing is helpful for diagnosis.
Article
Pediatrics
Julio Fernandez-Mendoza, Kristina P. Lenker, Susan L. Calhoun, Myra Qureshi, Anna Ricci, Elizaveta Bourchtein, Fan He, Alexandros N. Vgontzas, Jiangang Liao, Duanping Liao, Edward O. Bixler
Summary: This study examines the developmental trajectories of insomnia symptoms in childhood, their evolution into adult insomnia, and the role of objective sleep duration in this transition. The study finds that a high proportion of children with insomnia symptoms experience persistent symptoms into adulthood, and short sleep duration in childhood and adolescence increases the likelihood of worsening into adult insomnia. Early sleep interventions are crucial, and objective sleep measures may be clinically useful during adolescence.
Review
Obstetrics & Gynecology
Laurine L. van der Slink, Irma Scholten, Faridi S. Van Etten-Jamaludin, Robert B. Takkenberg, Rebecca C. Painter
Summary: Pregnancy and liver cirrhosis is a rare combination, but it is becoming more common. Liver cirrhosis increases the chances of maternal and fetal mortality and morbidity, although the exact risks are still unknown. A systematic literature review and meta-analysis were conducted to investigate maternal, fetal, and obstetric complications in pregnant women with liver cirrhosis. The results showed that pregnant women with liver cirrhosis have a higher risk of maternal mortality, variceal hemorrhage, preterm delivery, cesarean section, pre-eclampsia, and small-for-gestational-age neonates compared to the general obstetric population. Further large international prospective studies are needed to identify risk factors for unfavorable outcomes.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Multidisciplinary Sciences
Anna B. Meier, Sarala Raj Murthi, Hilansi Rawat, Christopher N. Toepfer, Gianluca Santamaria, Manuel Schmid, Elisa Mastantuono, Thomas Schwarzmayr, Riccardo Berutti, Julie Cleuziou, Peter Ewert, Agnes Gorlach, Karin Klingel, Karl-Ludwig Laugwitz, Christine E. Seidman, Jonathan G. Seidman, Alessandra Moretti, Cordula M. Wolf
Summary: The cardiomyopathy associated with Noonan syndrome (NS-CM) and hypertrophic cardiomyopathy caused by mutations in sarcomeric proteins (HCM) exhibit distinct disease phenotypes and potential different pathophysiology.
Article
Multidisciplinary Sciences
Alyssa L. Kennedy, Kasiani C. Myers, James Bowman, Christopher J. Gibson, Nicholas D. Camarda, Elissa Furutani, Gwen M. Muscato, Robert H. Klein, Kaitlyn Ballotti, Shanshan Liu, Chad E. Harris, Ashley Galvin, Maggie Malsch, David Dale, John M. Gansner, Taizo A. Nakano, Alison Bertuch, Adrianna Vlachos, Jeffrey M. Lipton, Paul Castillo, James Connelly, Jane Churpek, John R. Edwards, Nobuko Hijiya, Richard H. Ho, Inga Hofmann, James N. Huang, Sioban Keel, Adam Lamble, Bonnie W. Lau, Maxim Norkin, Elliot Stieglitz, Wendy Stock, Kelly Walkovich, Steffen Boettcher, Christian Brendel, Mark D. Fleming, Stella M. Davies, Edie A. Weller, Christopher Bahl, Scott L. Carter, Akiko Shimamura, R. Coleman Lindsley
Summary: Research on germline genetic leukemia predisposition in Shwachman-Diamond syndrome identified early emergence of multiple hematopoietic clones with EIF6 or TP53 mutations. The germline SBDS deficiency constrains clone selection via compensatory EIF6 inactivation and maladaptive TP53 mutations, with subsequent leukemia linked to biallelic TP53 alterations. These findings offer insights into clinical surveillance strategies.
NATURE COMMUNICATIONS
(2021)
Article
Ophthalmology
Ashleigh Barrett-Young, Antony Ambler, Kirsten Cheyne, Hayley Guiney, Jesse Kokaua, Barbara Steptoe, Yih Chung Tham, Graham A. Wilson, Tien Yin Wong, Richie Poulton
Summary: The thickness of retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) is related to cognitive performance in middle age and childhood, with thinner RNFL also associated with a decline in processing speed from childhood to adulthood.
JAMA OPHTHALMOLOGY
(2022)
Article
Orthopedics
Dennis Hundersmarck, Olivier Q. Groot, Henk J. Schuijt, Falco Hietbrink, Luke P. H. Leenen, Marilyn Heng
Summary: Patients with liver cirrhosis who suffer hip fractures have a high mortality rate, especially in cases of decompensation with signs such as ascites, hepatic encephalopathy, and variceal hemorrhage. Mild-to-moderate cirrhosis and compensated disease patients can undergo routine fracture treatment, while severe or decompensated cirrhosis patients should receive individualized treatment considering their high risk of death within 1 year after surgery.
CLINICAL ORTHOPAEDICS AND RELATED RESEARCH
(2022)
Review
Pediatrics
Xue Han, Shuanglong Lu, Changjuan Gu, Zhuli Bian, Xiaotian Xie, Xiaohong Qiao
Summary: Pancreatic exocrine insufficiency and growth failure were common initial symptoms of SDS. SDS onset occurred early in childhood with significant individual differences. Comprehensive collection and analysis of case-related data can facilitate clinicians' understanding of the clinical characteristics of SDS, leading to improved early diagnosis and effective clinical intervention.
Article
Clinical Neurology
Elizabeth Harlan Michelle, Iago Pinal-Fernandez, Maria Casal-Dominguez, Jemima Albayda, Julie J. Paik, Eleni Tiniakou, Brittany Adler, Christopher A. Mecoli, Sonye K. Danoff, Lisa Christopher-Stine, Andrew L. Mammen, Thomas E. Lloyd
Summary: This study found that female and non-Black patients with IBM have distinct clinical phenotypes, which may have different responses to therapies and can influence the design of future clinical trials in IBM.
Article
Gastroenterology & Hepatology
Feitong Wu, Katja Pahkala, Markus Juonala, Johanna Jaakkola, Suvi P. Rovio, Terho Lehtimaki, Matthew A. Sabin, Antti Jula, Nina Hutri-Kahonen, Tomi Laitinen, Jorma S. A. Viikari, Costan G. Magnussen, Olli T. Raitakari
Summary: Both childhood and adulthood passive smoking are associated with increased risk of adult fatty liver. Individuals with persistent exposure to passive smoking between childhood and adulthood have the highest risk compared to those without passive smoking.
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Multidisciplinary Sciences
Kunihiko Yokoyama, Akira Sakamaki, Kazuya Takahashi, Takumi Naruse, Chihiro Sato, Yuzo Kawata, Kentaro Tominaga, Hiroyuki Abe, Hiroki Sato, Atsunori Tsuchiya, Kenya Kamimura, Masaaki Takamura, Junji Yokoyama, Shuji Terai
Summary: This study investigated the relationship between small intestinal bacterial overgrowth (SIBO) and liver cirrhosis (LC). The results showed that hydrogen-producing SIBO (H-SIBO) was significantly associated with liver function impairment, while methane-producing SIBO (M-SIBO) was not. Rifaximin may be more effective for covert hepatic encephalopathy (HE) associated with H-SIBO.
Article
Psychology, Social
Yaoguo Geng, Xueying Sai, Peter K. Jonason, Minqi Yang, Xueli Zhu, Jingjing Gu, Huijuan Kong
Summary: The study found that the impact of adverse childhood conditions on adult WBC count in women is mainly mediated by narcissism, while men are more likely to report childhood harshness, Machiavellianism, and psychopathic tendencies.
PERSONALITY AND INDIVIDUAL DIFFERENCES
(2021)
Article
Pediatrics
Samuele Naviglio, Antonio Giacomo Grasso, Chiara Iacono, Giada Zanella, Valentina Kiren, Nagua Giurici, Federico Verzegnassi, Natalia Maximova, Marco Rabusin
Summary: Shwachman-Diamond syndrome is a rare bone marrow failure syndrome characterized by pancreatic insufficiency, bone abnormalities, and increased risk of MDS and AML. Venetoclax has shown promise in treating AML in elderly adults, but there is limited evidence on its use in pediatric patients with SDS-related MDS or AML.
FRONTIERS IN PEDIATRICS
(2023)
Article
Allergy
Purificacion Gonzalez-Delgado, Javier Muriel, Teodorikez Jimenez, Jose Ignacio Cameo, Antonio Palazon-Bru, Javier Fernandez
Summary: The study found that the main symptoms of adult FPIES include abdominal pain, diarrhea, and vomiting, with seafood being the most common trigger. Some patients are able to achieve tolerance after a period of time, but the duration and triggers may affect the achievement of tolerance. Furthermore, adults with FPIES have a higher prevalence of gastrointestinal pathologies.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2022)
Article
Genetics & Heredity
Vladimir Kenis, Eugeniy Melchenko, Ilya Mazunin, Minna Pekkinen, Outi Makitie
Summary: Epiphyseal chondrodysplasia, Miura type (ECDM) is a rare skeletal dysplasia characterized by tall stature and distinctive skeletal features. Patients may present with valgus deformities and various bone abnormalities, with genetic testing aiding in diagnosis. Treatment often involves surgical intervention and orthopedic therapy.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Endocrinology & Metabolism
Outi Makitie, M. Carola Zillikens
Summary: Osteoporosis is a skeletal disorder affecting mainly the elderly, characterized by low bone density and fragility fractures. In children and young adults, investigations should explore the possibility of underlying monogenetic bone diseases when fragility fractures occur. Management involves treating secondary factors, optimizing lifestyle factors, and discussing personalized bone-active medication based on severity of osteoporosis and underlying diseases.
CALCIFIED TISSUE INTERNATIONAL
(2022)
Article
Pediatrics
Anna Kivi, Marjo Metsaranta, Sanna Toiviainen-Salo, Sampsa Vanhatalo, Leena Haataja
Summary: The study found that most infants with perinatal asphyxia, with or without HIE, showed atypical neurological findings in sequential examinations. White matter T2 hyperintensity was significantly associated with atypical spontaneous movements in the HINE.
Article
Endocrinology & Metabolism
Fahad Aljuraibah, Justine Bacchetta, Maria Luisa Brandi, Pablo Florenzano, Muhammad K. Javaid, Outimaija Makitie, Adalbert Raimann, Mariano Rodriguez, Heide Siggelkow, Dov Tiosano, Marc Vervloet, Carsten A. Wagner
Summary: Chronic hypophosphatemia, characterized by low phosphate levels, can lead to underrecognition and poor clinical outcomes. Understanding phosphate homeostasis and early diagnosis are crucial for optimal management and improved health outcomes.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Public, Environmental & Occupational Health
Samuel Sandboge, Juho Kuula, Johan Bjorkqvist, Petteri Hovi, Outi Makitie, Eero Kajantie
Summary: Individuals born with very low birthweight have lower bone mineral density and content compared to term-born siblings, partially explained by their smaller body size, but genetic or environmental factors also play a role.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2022)
Article
Genetics & Heredity
Katri Rajala, Ellamaija Kasanen, Sanna Toiviainen-Salo, Helena Valta, Outi Makitie, Vedran Stefanovic, Laura Tanner
Summary: This retrospective cohort study aimed to describe the genetic spectrum of fetal skeletal dysplasias in a Finnish patient cohort and evaluate the diagnostic yield of various analysis methods. The study found that Finnish founder mutations play a significant role in skeletal dysplasias, suggesting potential differences in the genetic spectrum between populations.
PRENATAL DIAGNOSIS
(2022)
Article
Endocrinology & Metabolism
Riikka E. Maekitie, Sanna Toiviainen-Salo, Ilkka Kaitila, Outi Maekitie
Summary: This study reports a rare form of osteochondrodysplasia in a Finnish family, characterized by abnormal codfish-shaped vertebrae, severe early-onset osteoarthritis, and empty sella syndrome, associated with a mutation in the TBX2 gene.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Alice Costantini, Riikka E. Makitie, Markus A. Hartmann, Nadja Fratzl-Zelman, M. Carola Zillikens, Uwe Kornak, Kent Soe, Outi Makitie
Summary: Early-onset osteoporosis (EOOP) is a disease that affects children, premenopausal women, and men aged <50 years. It may be caused by various factors such as chronic illness, medication, and nutritional deficiencies. Genetic variants in key genes play a crucial role in the pathogenesis of EOOP. The diagnosis and genetic diagnosis of EOOP are complex and require comprehensive assessments. Rare monogenic forms of EOOP are mainly associated with gene defects in the WNT pathway.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Helena H. Hauta-alus, Elisa M. Holmlund-Suila, Saara M. Valkama, Maria Enlund-Cerullo, Jenni Rosendahl, Ryan F. Coghlan, Sture Andersson, Outi Makitie
Summary: This study examines the relationship between Collagen X biomarker (CXM) and linear growth rate and bone development, as well as the modifying effects of vitamin D supplementation. The findings suggest that CXM is related to linear growth velocity during the second year of life but not to bone development. Furthermore, higher CXM levels in infants receiving higher vitamin D supplementation are associated with an accelerated growth rate in length.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Emilia Traskila, Elina Holopainen, Mikko I. Mayranpaa, Jorma Toppari, Outi Makitie, Saila Laakso
Summary: The aim of this study was to investigate the puberty and hypogonadism in males with APECED. Forty-three males were followed up until adulthood, and the onset of spontaneous puberty was found to occur at a median age of 13.3 years. Testosterone medication was used to promote pubertal development in some patients. The study also identified hypogonadism and azoospermia in a subset of patients.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Joonatan Borchers, Eero Pukkala, Outi Makitie, Saila Laakso
Summary: This study examined the incidence and causes of primary adrenal insufficiency in Finnish children. The findings showed a high incidence rate in the first year of life, with a significant gender difference. Congenital adrenal hyperplasia was the most common cause among patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Freja Pontan, Helena Hauta-alus, Saara Valkama, Jenni Rosendahl, Maria Enlund-Cerullo, Sture Andersson, Outi Makitie, Elisa Holmlund-Suila
Summary: This study investigated the concentrations of alkaline phosphatase (ALP) and the prevalence of hyperphosphatasemia in healthy children, and their association with vitamin D, growth, infections, and bone parameters. It was found that boys had higher ALP levels than girls, and hyperphosphatasemia was more common at 12 months. Hyperphosphatasemia was associated with body size, growth rate, and bone mineralization, but not with infections.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Genetics & Heredity
Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outi Makitie
Summary: Polydactyly is a rare genetic disorder characterized by the duplication of digits in the hands and feet. This study identified novel and known genetic variants in two Pakistani families with autosomal recessive postaxial polydactyly type A (PAPA) and demonstrated the abnormal function of the proteins associated with the disease phenotype. These findings expand our understanding of the genetic causes of polydactyly and provide implications for genetic counseling in affected families.
Meeting Abstract
Endocrinology & Metabolism
Susann Karlberg, Sanna Toiviainen-Salo, Marita Lipsanen-Nyman, Outi Makitie
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Article
Endocrinology & Metabolism
Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala-Mello, Outi Makitie, Alice Costantini
Summary: Mosaicism, caused by AMER1 and RUNX2 gene variants, was identified using whole-genome sequencing in two clinically diagnosed patients with skeletal disorders. This study sheds light on the importance of considering mosaicism in unresolved cases of skeletal dysplasia.
Article
Pediatrics
Tarun Aurora, Audrey Cole, Parul Rai, Paul Lavoie, Carrie Mcivor, Lisa M. Klesges, Guolian Kang, Janaka S. S. Liyanage, Heather M. Brandt, Jane S. Hankins
Summary: This study evaluated the effectiveness of a vaccine strategy bundle in increasing HPV vaccine initiation and completion rates in a specialty clinic setting. By implementing the bundle, which included staff education, provider incentives, offering vaccines in clinics, and verifying vaccine completion, the clinic successfully improved HPV vaccine initiation and completion rates among sickle cell disease patients.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Nienke M. Halbmeijer, Wes Onland, Jeroen Dudink, Filip Cools, Anne Debeer, Anton H. van Kaam, Manon J. N. L. Benders, Niek E. van der Aa
Summary: In ventilated infants born preterm, high dose systemic hydrocortisone initiated between 7 and 14 days after birth did not have a significant impact on brain development.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Katherine Melton, Jianfang Liu, Hossein Sadeghi, Maureen George, Arlene Smaldone
Summary: This study aims to identify predictors of change in lung function and body weight during health care transition in cystic fibrosis (CF) patients. The study findings highlight the importance of CF RISE program engagement and reducing gaps in care for improving the transition of adolescents and young adults with CF.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Laura A. Duckworth, Kimberly A. Sutton, Nurmohammad Shaikh, Jinli Wang, Carla Hall-Moore, Lori R. Holtz, Phillip I. Tarr, Ronald C. Rubenstein
Summary: The study tested the usefulness of various biomarkers as indicators of gut dysfunction in cystic fibrosis (CF) and investigated the repeatability of these measures in individuals over short periods and their correlation with clinical outcomes. The results showed that elevated levels of fLcn2 in individuals with CF may predict worsened pulmonary function.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Lindsey Haack, Nikkan Das, Arvind Hoskoppal, Mark Debrunner, Tarek Alsaied, Gaurav Arora
Summary: RAE on ECG has a low positive predictive value for RAE on echocardiogram in previously healthy young patients. The highest yield for RAE on echocardiogram was observed in patients who were <1 year of age, had RAE in the anterior precordial leads, or displayed right ventricular hypertrophy on ECG.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Michael A. Padula, Khatija Naing, Tara L. Wenger, Irfan Ahmad, Carl H. Coghill, K. Taylor Wild, S. Alex Rottgers, Cory M. Resnick, Jeffrey Goldstein, Zarmina Ehsan, Donna Watkins, Nicole Deptula, Kuan-Chi Lai, Janet Lioy, Semsa Gogcu, Christopher M. Cielo
Summary: This study describes the spectrum of disease and burden of care in infants with congenital micrognathia. The results show that these infants commonly require surgical intervention and tube feedings, and disparities based on race and among centers were identified.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Michael P. Fundora, Manvitha Kalicheti, Guantao Zhao, Kevin O. Maher, Nicoleta Serban
Summary: This study investigated the variation of outpatient opioid prescribing in postoperative pediatric cardiac patients across the US. The results showed that there were significant differences in opioid prescribing by race, ethnicity, sex, and region.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Jia Guo, Brooklyn J. Fraser, Leigh Blizzard, Michael D. Schmidt, Terence Dwyer, Alison J. Venn, Costan G. Magnussen
Summary: There is a correlation between childhood and adulthood cardiorespiratory fitness.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Nianzhou Xiao, Michelle Starr, Adrienne Stolfi, Gilad Hamdani, Shireen Hashmat, Stefan G. Kiessling, Christina Sethna, Mahmoud Kallash, Robyn Matloff, Robert Woroniecki, Keia Sanderson, Ikuyo Yamaguchi, Stephen D. Cha, Michael G. Semanik, Rahul Chanchlani, Joseph T. Flynn, Mark Mitsnefes
Summary: This multicenter study reports that most infants diagnosed with idiopathic hypertension in the NICU will discontinue antihypertensive treatment within 2 years of discharge. Antenatal steroid treatment is associated with a decreased likelihood of needing antihypertensive therapy for more than 1 year.
JOURNAL OF PEDIATRICS
(2024)
Editorial Material
Pediatrics
Kanwaljit Singh, John Concato, Jonathan M. Davis
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Yaxing Meng, Harri Niinikoski, Suvi P. Rovio, Brooklyn J. Fraser, Feitong Wu, Antti Jula, Tapani Ronnemaa, Jorma S. A. Viikari, Olli T. Raitakari, Katja Pahkala, Costan G. Magnussen
Summary: This 26-year study shows a correlation between early-life non-HDL-C levels and future levels. Early dietary counseling can reduce the risk of high pediatric non-HDL-C, emphasizing the importance of early interventions in preventing cardiovascular risks.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Kelsey A. B. Gastineau, Rebecca Bell, Allison Hanes, Sandra Mckay, Eric Sigel, Filoteia Popescu, Evan C. Sommer, Shari Barkin
Summary: This study aimed to assess the self-reported counseling outcomes for a firearm safe storage counseling training program provided by the American Academy of Pediatrics. The results demonstrated significant improvement in counseling self-efficacy and frequency one month after the training.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Kathryn E. K. Berlin, William Scott, Sara Dawson, David Brousseau, Joanne M. Lagatta
Summary: This prospective cohort study aimed to investigate the impact of bronchopulmonary dysplasia (BPD) on the health-related quality of life (HRQL) of infants from NICU hospitalization to one year post-discharge. The study found that lower HRQL during NICU stay was associated with earlier gestational age, postnatal corticosteroid usage, outborn status, and gastrostomy tube placement. Lower HRQL at 3 and 12 months post-discharge was associated with readmissions, home oxygen use, parent-reported difficulty breathing, lower developmental scores, and not playing with other children. Most parents reported similar or improved HRQL after discharge, but parents of infants with respiratory symptoms experienced less improvement. Efforts to improve parent HRQL should focus on respiratory symptoms and social isolation.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Garett J. Griffith, Alan P. Wang, Robert I. Liem, Michael R. Carr, Tyler Corson, Kendra Ward
Summary: This study developed reference values for cardiorespiratory fitness in children aged 6-18 years without underlying heart disease, measured by peak oxygen uptake and treadmill time. Fitness levels increased with age in males but not females. Males generally exhibited higher fitness levels compared to females in the same age groups.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
David S. Liu, Patricia Miller, Anna Rothenberg, Carley Vuillermin, Peter M. Waters, Andrea S. Bauer
Summary: This study aims to determine if children with elbow flexion contracture (EFC) caused by brachial plexus birth injury (BPBI) are more likely to develop shoulder contracture and undergo surgical treatment. A retrospective review was conducted on children under 2 years old with BPBI who presented to a single children's hospital. The results showed that patients with EFC had reduced shoulder range of motion and higher odds of shoulder contracture and surgical treatment. Prompt referral to a BPBI specialty clinic is recommended for evaluation and potential surgery.
JOURNAL OF PEDIATRICS
(2024)