Article
Gastroenterology & Hepatology
Yucan Zheng, Hongmei Guo, Leilei Chen, Weixia Cheng, Kunlong Yan, Zhihua Zhang, Mei Li, Yu Jin, Guorui Hu, Chunli Wang, Chunlei Zhou, Wei Zhou, Zhanjun Jia, Bixia Zheng, Zhifeng Liu
Summary: This retrospective study characterized the genotype and phenotype of 166 participants with intrahepatic cholestasis, and re-analyzed phenotype and whole-exome sequencing (WES) data from patients with previously undetermined genetic etiology. Disease-causing variants were identified in 31% of the participants. Regular re-evaluation of well-phenotyped patients' WES data can increase the diagnostic yield for cholestatic liver disease in children.
HEPATOLOGY INTERNATIONAL
(2023)
Article
Medicine, General & Internal
Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Frederic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broue, Alexandre Fabre, Karine Mention-Mulliez, Jerome Bouligand, Emmanuel Jacquemin, Emmanuel Gonzales
Summary: This study evaluated the use of NGS in pediatric cholestasis and found that it provided a certain diagnosis in 28.1% of the included patients. However, further investigation is needed to determine the impact of variants, especially in patients with variants of uncertain significance.
Article
Pediatrics
Chi -Bo Chen, Jacob Shujui Hsu, Pei-Lung Chen, Jia-Feng Wu, Huei-Ying Li, Bang -Yu Liou, Mei-Hwei Chang, Yen-Hsuan Ni, Wuh-Liang Hwu, Yin-Hsiu Chien, Yen -Yin Chou, Yao-Jong Yang, Ni-Chung Lee, Huey-Ling Chen
Summary: This study used advanced genetic analysis methods to assist in the clinical diagnosis of genetic liver diseases. A combined panel-WES approach was found to be efficient, with a diagnostic yield of 27.8% for 352 patients.
JOURNAL OF PEDIATRICS
(2023)
Article
Biochemistry & Molecular Biology
Aleksander Salomon-Perzynski, Joanna Barankiewicz, Marcin Machnicki, Irena Misiewicz-Krzeminska, Michal Pawlak, Sylwia Radomska, Agnieszka Krzywdzinska, Aleksandra Bluszcz, Piotr Stawinski, Malgorzata Rydzanicz, Natalia Jakacka, Iwona Solarska, Katarzyna Borg, Zofia Spyra-Gorny, Tomasz Szpila, Bartosz Pula, Sebastian Grosicki, Tomasz Stoklosa, Rafal Ploski, Ewa Lech-Maranda, Jana Jakubikova, Krzysztof Jamroziak
Summary: Tracking genetic changes during multiple myeloma progression reveals different patterns of mutation evolution, with mutation loss pathway associated with better treatment response. Many druggable genes are mutated, even in heavily pre-treated patients. Redefining R-ISS at relapse is clinically valuable.
Article
Biology
Maria Guarnaccia, Laura Guarnaccia, Valentina La Cognata, Stefania Elena Navone, Rolando Campanella, Antonella Ampollini, Marco Locatelli, Monica Miozzo, Giovanni Marfia, Sebastiano Cavallaro
Summary: The study developed a targeted next-generation sequencing approach for analyzing genetic variations and chromosomal aberrations in gliomas, which can provide accurate and specific assessment of tumor pathogenesis, prognosis, and treatment response. This has important implications for the diagnosis and treatment of gliomas.
Article
Medical Laboratory Technology
Jiansheng Lin, Weihua Lin, Yiming Lin, Weilin Peng, Zhenzhu Zheng
Summary: This study retrospectively analyzed the cases of Chinese infants with NICCD and identified multiple genetic mutations. The study also found comorbidity of NICCD and other inborn errors of metabolism in some patients.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Bennett Oh Vic Shum, Carel Jacobus Pretorius, Letitia Min Fen Sng, Ilya Henner, Paulette Barahona, Emre Basar, Jim McGill, Urs Wilgen, Anna Zournazi, Lilian Downie, Natalie Taylor, Liam Cheney, Sylvania Wu, Natalie Angela Twine, Denis Carolin Bauer, Gerald Francis Watts, Akash Navilebasappa, Kishore Rajagopal Kumar, Jacobus Petrus Johannes Ungerer, Glenn Bennett
Summary: The study found that newborn screening can be expanded using targeted gene sequencing (TGS), which is a feasible and cost-effective method. The TGS assay had a high sensitivity (>99%) and specificity (100%) with a turnaround time of 7 to 10 days and a maximum batch size of 1536 samples. This approach can increase the number of conditions screened and improve the effectiveness of newborn screening programs.
CLINICAL CHEMISTRY
(2023)
Article
Medicine, General & Internal
Roberta Granese, Gloria Calagna, Angela Alibrandi, Canio Martinelli, Paola Romeo, Roberto Filomia, Maria Immacolata Ferraro, Eleonora Piccione, Alfredo Ercoli, Carlo Saitta
Summary: The study aimed to evaluate the outcomes of intrahepatic cholestasis of pregnancy (ICP) on both maternal and fetal health. A retrospective case-control study was conducted, including pregnant women diagnosed with ICP between January 2010 and December 2020 at a university hospital. The results showed a higher incidence of hypothyroidism, thrombophilia, gestational diabetes, gestational hypertension, postpartum hemorrhage, and preterm delivery in ICP patients compared to the control group. However, there were no recorded neonatal adverse events and no signs of chronic liver disease in ICP patients during the 24-month follow-up.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Pharmacology & Pharmacy
Shuying Xie, Shizhang Wei, Xiao Ma, Ruilin Wang, Tingting He, Zhao Zhang, Ju Yang, Jiawei Wang, Lei Chang, Manyi Jing, Haotian Li, Xuelin Zhou, Yanling Zhao
Summary: Hereditary cholestatic liver disease, caused by autosomal gene mutations, leads to jaundice and disruptions in bile acid metabolism. The clinical manifestations in children vary due to different gene mutations. Lack of a unified diagnostic standard and single detection method hampers clinical treatment development. Therefore, this review systematically describes the mutated genes of hereditary intrahepatic cholestasis.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Immunology
Ravina Kullar, Emanuele Chisari, James Snyder, Christopher Cooper, Javad Parvizi, Jason Sniffen
Summary: This article discusses the gaps in traditional culture and introduces the utility of next-generation sequencing (NGS) in diagnosing and treating peri-prosthetic joint infections. It highlights the clinical benefits of using NGS compared to culture alone and emphasizes the potential of NGS in improving the yield of identifying infective organisms in challenging cases.
CLINICAL INFECTIOUS DISEASES
(2023)
Article
Genetics & Heredity
Hsien-Yu Fan, Wan-Yu Lin, Tzu-Pin Lu, Yun-Yu Chen, Justin BoKai Hsu, Sung-Liang Yu, Ta-Chen Su, Hung-Ju Lin, Yang-Ching Chen, Kuo-Liong Chien
Summary: This study used targeted next-generation sequencing to investigate the association between genetic variants and left ventricular mass, and identified candidate genes including CASQ2, COL5A1, and FXN. These findings provide important insights into the functional mechanisms of these genes and variants.
FRONTIERS IN GENETICS
(2023)
Review
Biochemistry & Molecular Biology
Natsuko Aida, Akiko Saito, Toshifumi Azuma
Summary: The development of next-generation sequencing (NGS) has greatly improved the speed and capacity of genetic analysis, expanding its applications to include genome, epigenome, metagenome, and transcriptome analyses. Bone tissue, as a crucial unit supporting the body, is susceptible to genetic diseases. The relationship between age-related bone fragility and genetic factors has recently gained attention.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Aimi Zafira Razman, Yung-An Chua, Noor Alicezah Mohd Kasim, Alyaa Al-Khateeb, Siti Hamimah Sheikh Abdul Kadir, Siti Azma Jusoh, Hapizah Nawawi
Summary: Familial hypercholesterolaemia (FH) is caused by mutations in genes related to lipid metabolism. This study focused on Malaysian FH patients and found that mutations in low-density lipoprotein receptor and apolipoprotein B genes were the most common, while novel variants in the PCSK9 gene were identified. The prevalence of genetically confirmed FH in the Malaysian community is relatively high, emphasizing the importance of genetic confirmation in both potential and possible FH cases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Lei Zhao, Rasmus Nielsen, Thorfinn Sand Korneliussen
Summary: Commonly used methods for inferring phylogenies are not well-suited for handling challenges associated with noisy, diploid sequencing data. To address this problem, we introduce two new probabilistic approaches, distAngsd-geno and distAngsd-nuc, that account for uncertainty in genotype calling and are specifically designed for next-generation sequencing data.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Article
Microbiology
Rong Zhang, Yan Zhuang, Zheng-Hui Xiao, Cai-Yun Li, Fan Zhang, Wei-Qing Huang, Min Zhang, Xiao-Ming Peng, Chao Liu
Summary: In this study, metagenomic next-generation sequencing (mNGS) was used for etiological diagnosis and monitoring antibiotic treatment efficacy in neonatal patients with severe infections. mNGS identified microbial findings in all cases, leading to changes in antibiotic treatment. This method has the potential to reduce the overall cost and burden of disease management in neonatal infections.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Genetics & Heredity
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh
Summary: Angelman syndrome is a genetic disorder caused by the absence of the mother's UBE3A gene. This study suggests that mitotic nondisjunction may be responsible for paternal uniparental disomy of chromosome 15 in a six-year-old patient with AS.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Yu Aihara, Matsuyuki Shirota, Atsuo Kikuchi, Yu Katata, Yu Abe, Tetsuya Niihori, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
Summary: This case report describes a two-year-old girl with developmental delay, tremor, and ataxic gait, but no obvious dystonia. Exome sequencing identified a novel variant in the ANO3 gene, which has been associated with intellectual disability. The study suggests that specific variants in the transmembrane 4 domain of ANO3 may be a cause of childhood-onset movement disorder with intellectual disability, even in the absence of dystonia.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Celine Huber, Carlos Anton-Plagaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H. van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J. Cullen, Shinji Saitoh, Kohji Kato
Summary: This study reported three new cases of VPS35L-associated Ritscher-Schinzel syndrome (RSS) and investigated the clinical spectrum and underlying molecular mechanism. Novel complications, including hypercholesterolemia, hypogammaglobulinemia, and intestinal lymphangiectasia, were identified in addition to the typical features of RSS. Cellular analysis revealed that VPS35L deficiency decreased the cell surface level of lipoprotein receptor-related protein 1 and low-density lipoprotein receptor, resulting in reduced low-density lipoprotein cellular uptake.
JOURNAL OF MEDICAL GENETICS
(2023)
Correction
Genetics & Heredity
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh
JOURNAL OF HUMAN GENETICS
(2023)
Article
Pediatrics
Asuka Shimozato, Kei Ohashi, Shinji Saitoh
PEDIATRICS INTERNATIONAL
(2023)
Article
Oncology
Ryutaro Nishikawa, Mayumi Sugiura-Ogasawara, Takeshi Ebara, Taro Matsuki, Hazuki Tamada, Sayaka Kato, Kayo Kaneko, Shinji Saitoh, Michihiro Kamijima
Summary: This study examined the impact of AYA cancer on pregnancy outcomes and infectious diseases in infants. It found that AYA cancer survivors have higher risks of adverse pregnancy outcomes and lower respiratory tract inflammation in their infants.
Article
Biochemistry & Molecular Biology
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto
Summary: Autism spectrum disorder (ASD) is caused by a combination of genetic and environmental factors. By analyzing 405 ASD patients, researchers identified disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses. They achieved a molecular diagnosis in 16.3% of the patients and found a higher diagnostic rate in females and in simplex cases compared to multiplex families.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Maako Kawamura, Hidekazu Shirota, Tetsuya Niihori, Keigo Komine, Masanobu Takahashi, Shin Takahashi, Eisaku Miyauchi, Hidetaka Niizuma, Atsuo Kikuchi, Hiroshi Tada, Muneaki Shimada, Naoki Kawamorita, Masayuki Kanamori, Ikuko Sugiyama, Mari Tsubata, Hitotshi Ichikawa, Jun Yasuda, Toru Furukawa, Yoko Aoki, Chikashi Ishioka
Summary: Cancer treatment is shifting towards personalized medicine, using genetic sequencing to identify therapeutic targets. This study retrospectively analyzed comprehensive genomic profiling (CGP) tests conducted at a hospital, focusing on the identification of presumed germline pathogenic variants (PGPV). The study found that confirmatory testing was recommended for 64 patients, with 17 patients testing positive for pathogenic variants. The results provide valuable insights for the management of secondary findings in genomic analysis.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Allergy
Akiko Nakaoka, Takayasu Nomura, Kazuyoshi Ozeki, Tomotaka Suzuki, Shigeru Kusumoto, Shinsuke Iida, Shinji Saitoh
Summary: This article reports two cases of transplant-acquired food allergy (TAFA) after liver transplantation and cord blood transplantation. It is the first report of patients reacquiring food allergy by resuming daily consumption after a negative oral food challenge.
ALLERGY ASTHMA AND CLINICAL IMMUNOLOGY
(2023)
Article
Pediatrics
Aya Yoshida, Kayo Kaneko, Kohei Aoyama, Naoya Yamaguchi, Atsushi Suzuki, Sayaka Kato, Takeshi Ebara, Mayumi Sugiura-Ogasawara, Michihiro Kamijima, Shinji Saitoh
Summary: Later-borns tend to be shorter than first-borns in childhood and adulthood, and this study aimed to investigate the relationship between birth order and growth during the first 4 years of life. The study found that birth order was significantly associated with postnatal growth, with later-borns having lower length Z-scores and higher odds of short stature compared to first-borns having no sibling. This suggests that birth order may be a predisposing factor for short stature in early childhood.
Article
Endocrinology & Metabolism
Aya Yoshida, Kohei Aoyama, Naoya Yamaguchi, Atsushi Suzuki, Haruo Mizuno, Hayato Tada, Shinji Saitoh
Summary: This article reports a case of transient hypercholesterolemia in an infant during breastfeeding. Genetic analysis revealed a heterozygous variant in the ABCG5 gene in the patient and his mother, while the father did not have the variant. Therefore, heterozygous variants of ABCG5 may lead to transient hypercholesterolemia during breastfeeding.
CLINICAL PEDIATRIC ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Kazunori Imai, Kohei Aoyama, Takato Goto, Tamao Kitaori, Toshiyuki Iguchi, Hiroshi Sasano, Tomonori Hattori, Mayumi Sugiura-Ogasawara, Shinji Saitoh
Summary: This article reports a case of an 11-year-old healthy girl with a 2-day history of left lower abdominal pain. Examination revealed hemorrhagic ascites and hematocolpos due to lower vaginal agenesis. History, imaging tests, and collaboration with obstetrician/gynecologist were crucial in this case.
ACUTE MEDICINE & SURGERY
(2023)
Review
Pediatrics
Atsushi Numaguchi, Akira Ishii, Jun Natsume, Shinji Saitoh, Yasuhiro Aoki, Tetsushi Yoshikawa, Ichiro Isobe, Akihisa Okumura, Hiroshi Seno, Yoshiyuki Takahashi
Summary: This study investigates the etiologies of child deaths in Japan and proposes using clinical medical records from pediatric care hospitals as a suitable method for initiating the CDR process.
PEDIATRICS INTERNATIONAL
(2023)
Article
Biochemistry & Molecular Biology
Shin Kato, Osuke Iwata, Hiroyuki Kato, Satoko Fukaya, Yukari Imai, Shinji Saitoh
Summary: This study reveals the involvement of furin in the alveolarization of immature lungs and its critical role in the pathogenesis of bronchopulmonary dysplasia (BPD). The findings highlight furin as a potential treatment target for ameliorating the impact of BPD.
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)