Article
Nutrition & Dietetics
Elle Chou, Rachel Lindeback, Arlene M. D'Silva, Hugo Sampaio, Kristen Neville, Michelle A. Farrar
Summary: This study aimed to investigate the range of nutritional issues in children with neuromuscular disorders (NMDs) and identify differences in growth outcomes and nutritional needs among children of different ages with NMDs. Children with early-onset NMDs had higher prevalence of certain health issues and received more dietetic care compared to those with later-onset NMDs. Future research should focus on measuring the impact of specific dietetic practices on growth and nutritional outcomes in children with NMDs.
CLINICAL NUTRITION
(2021)
Article
Medicine, Research & Experimental
Meijun Pan, Jing Zhou, Xinyao Pan, Jing Wang, Qing Qi, Ling Wang
Summary: Postmenopausal symptoms are systemic symptoms associated with estrogen deficiency after menopause. Hormonal therapy (HT) and non-HT are currently used to treat these symptoms, but the best regimen for balancing the benefits and risks is still unclear. This article reviews the characteristics, regimens, and side effects of drugs used in HT and non-HT, providing valuable information for clinical drug selection.
Article
Biology
Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Osama Yousef Muthaffar, Adeel G. Chaudhary
Summary: In this study, a novel compound heterozygous mutation in the RTTN gene was identified in a consanguineous Saudi family, leading to brain malformation and other developmental abnormalities. This finding is the first report of its kind from Saudi Arabia and may provide further insights into the role of the RTTN gene in microcephaly and neurodevelopmental disorders.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2021)
Review
Psychiatry
Daniel A. Geller, Saffron Homayoun, Gabrielle Johnson
Summary: Early onset of Obsessive Compulsive Disorder (OCD) may represent a unique developmental subtype of the disorder, with several age-related factors identified by research. Early diagnosis and intervention in affected youth are crucial to reduce the functional impairments caused by untreated illness.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Endocrinology & Metabolism
Karolina Joanna Skrzynska, Agnieszka Zachurzok, Aneta Monika Gawlik
Summary: The study aimed to assess the hormonal and metabolic profile of adolescent girls with PCOS additionally diagnosed with AT, finding higher estradiol and DHEAS concentrations in the AT group. Positive correlation between AT and estradiol concentration was observed, along with a tendency towards higher glucose levels in girls with PCOS and AT, indicating a potential role of estradiol in the development of the autoimmune process. Further research is needed to confirm these findings.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Changguang Liao, Hui Shen, Zihan Gao, Yunshu Wang, Zhiguo Zhu, Qiaoli Xie, Ting Wu, Guoping Chen, Zongli Hu
Summary: The novel CRF, SlCRF6, plays a crucial role in regulating tomato plant morphology, leaf development, and the accumulation of photosynthetic products.
Article
Computer Science, Cybernetics
Giovanna Puccio, Giulia Gazzi, Sara Bertoni, Sandro Franceschini, Martina Mancarella, Simone Gori, Lucia Ronconi, Andrea Facoetti
Summary: This meta-analysis found that action video game training can have a positive impact on visual attention in children with developmental dyslexia. However, further studies are needed to verify the long-term effects of action video games on developmental dyslexia.
INTERNATIONAL JOURNAL OF HUMAN-COMPUTER INTERACTION
(2023)
Article
Orthopedics
Gleeson Rebello, Benjamin Joseph
Summary: Diego Velazquez painted several dwarfs who worked at the Royal Court of Spain, with one of the most well-known being a painting of the court jester named Sebastian de Morra. The clarity of the painting allows viewers to diagnose achondroplasia in the subject.
JOURNAL OF PEDIATRIC ORTHOPAEDICS
(2021)
Review
Endocrinology & Metabolism
Athanasios Zervas, George Chrousos, Sarantis Livadas
Summary: The fairytale "Snow White and the Seven Dwarfs" originated from the Brothers Grimm and was popularized by Walt Disney's film adaptation. The unique characteristics of the seven dwarfs sparked interest in endocrinological research, leading to speculation on the underlying disorder depicted in the tale.
ENDOCRINE CONNECTIONS
(2021)
Article
Veterinary Sciences
Martina Naceradska, Katerina Navojova Horackova, Michaela Fridrichova
Summary: A 6-month-old male domestic shorthair cat with dwarfism, ocular and nasal discharge, and Ascaris infestation was diagnosed with congenital hyposomatotropism based on serum level of insulin-like growth factor-1 (IGF-I). After treatment with human recombinant growth hormone for 9 weeks, the cat's size became normal and its IGF-I levels remained normal even 3 months and half a year after discontinuation of therapy.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Agriculture, Dairy & Animal Science
E. R. S. Maylem, L. J. Spicer, I. M. Batalha, L. F. Schuetz
Summary: Recent studies have investigated the hormonal regulation of FBN1 and OR4M1 gene expression in granulosa cells of bovine dominant ovarian follicles. The study found that FBN1 mRNA abundance was higher in medium estrogen inactive follicles, while OR4M1 mRNA abundance was higher in small estrogen inactive follicles. Additionally, FBN1 mRNA abundance was greater on days 5 to 6 compared to days 3 to 4. The study also identified hormonal regulators for FBN1 mRNA abundance, including TGF beta 1, WNT3A, and IGF1. Progesterone was found to regulate OR4M1 mRNA abundance. These findings suggest that FBN1 and OR4M1 gene expression are hormonally and developmentally regulated, potentially affecting asprosin production and ovarian follicular function in cattle.
DOMESTIC ANIMAL ENDOCRINOLOGY
(2023)
Article
Pediatrics
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Debora Bertola, Charles Marques Lourenco, Denise Pontes Cavalcanti, Temis Maria Felix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flavia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela
Summary: This study summarized the main expert recommendations for the health care professionals management of achondroplasia in Latin America, reinforcing that achondroplasia-associated comorbidities are not limited to orthopedic concerns.
Article
Medicine, General & Internal
Lv-Lv Yang, Shi-Shan Liang
Summary: Genetic variation related to dwarfism was analyzed using a constructed panel and next-generation sequencing platform in this study. Ten out of 39 dwarfism patients showed pathogenicity variability, with gene variations found in multiple genes. Further research is needed to elucidate the mechanism behind dwarfism incidence.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Multidisciplinary Sciences
Stefanie Kitzmann, Katrin Hartmann, Yury Zablotski, Anna Rieger, Ralf Mueller, Astrid Wehner
Summary: The study found that German Shepherd dogs with pituitary dwarfism (PD) should be treated at least for their secondary hypothyroidism to increase survival time. Additional treatment with progestogens or growth hormone can improve body size and may protect against the occurrence of chronic kidney disease (CKD). Treatment significantly improves the quality of life in affected dogs and increases their overall wellbeing.
Review
Medicine, Research & Experimental
Molly C. C. Murton, Emma L. A. Drane, Danielle M. M. Goff-Leggett, Renee Shediac, Jamie O'Hara, Melita Irving, Thomas J. J. Butt
Summary: This systematic literature review provides a comprehensive overview of the burden and treatment landscape for achondroplasia. The study highlights the substantial health-related quality of life and healthcare resource use burden of achondroplasia, particularly in emotional wellbeing and hospitalisation costs and resource use. It also identifies the gaps in research regarding the utility and cost-effectiveness of achondroplasia and its treatments.
ADVANCES IN THERAPY
(2023)
Article
Acoustics
Caroline Aguilar, Adrian P. Regensburger, Ferdinand Knieling, Alexandra L. Wagner, Gregor Siebenlist, Joachim Woelfle, Henrik Koehler, Andre Hoerning, Joerg Juengert
ULTRASCHALL IN DER MEDIZIN
(2022)
Article
Cardiac & Cardiovascular Systems
Andre Rueffer, Ferdinand Knieling, Robert Cesnjevar, Adrian Regensburger, Ariawan Purbojo, Sven Dittrich, Frank Muench, Joachim Woelfle, Joerg Juengert
Summary: T-CEUS was used for quantitatively evaluating cerebral perfusion during REEEA in infants, showing a homogeneous distribution of contrast agent in both hemispheres with no significant differences in absolute or relative perfusion. This technique can be useful for postprocedural assessment of cerebral perfusion during congenital cardiac surgery.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2022)
Article
Endocrinology & Metabolism
Marianne Becker, Oliver Blankenstein, Erwin Lankes, Dirk Schnabel, Heiko Krude
Summary: The study found that severe acquired hypothyroidism in children has a significant impact on growth, with most cases showing some catch-up growth after adequate L-thyroxine therapy. Pubertal state appears to be important for catch-up growth.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
(2022)
Article
Hematology
Julia Moosmann, Anja Krusemark, Sven Dittrich, Tatjana Ammer, Manfred Rauh, Joachim Woelfle, Markus Metzler, Jakob Zierk
Summary: This study calculated reference intervals for NLR, PLR, and LMR from birth to 18 years using a data-mining approach, and investigated their diagnostic benefit in different inflammatory diseases. The results showed that NLR was significantly increased in patients with appendicitis and asthma, while PLR and LMR were not sensitive markers for the examined inflammatory diseases.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Article
Gastroenterology & Hepatology
Christoph Ehrsam, Tobias Rechenauer, Ida Allabauer, Gregor Siebenlist, Sonja Kaspar, Daniel Rieger, Margit Schmid, Aline Ruckel, Joachim Woelfle, Arndt Hartmann, Ralf Rieker, Martin Raithel, Carol Geppert, Andre Hoerning
Summary: This study investigated the number and distribution of mast cells (MCs) in the pediatric gastrointestinal (GI) tract, and found significant differences in MC counts in different parts of the GI tract. The counts of MCs in the pediatric GI tract are higher than previously reported, with an overlap between healthy individuals and those with gastrointestinal food allergies (GFA). These results provide detailed information on MC distribution and numbers in pediatric allergic patients, and allow for the estimation of physiological values in childhood for the first time.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2022)
Article
Pediatrics
Bettina C. Gohlke, Markus Bettendorf, Gerhard Binder, Berthold Hauffa, Thomas Reinehr, Helmuth-Guenther Dorr, Joachim Wolfle
Summary: Various psychosocial factors have a significant impact on children's growth, such as psychosocial deprivation, war, and migration, which can lead to growth disturbances. Children born to mothers who consume alcohol or opiates during pregnancy may experience low birth weight and premature birth.
KLINISCHE PADIATRIE
(2022)
Review
Pediatrics
Dieter Haffner, Maren Leifheit-Nestler, Andrea Grund, Dirk Schnabel
Summary: Rickets is a disease in growing children caused by disruptions in calcium and phosphate metabolism, leading to impaired apoptosis of hypertrophic chondrocytes in the growth plate. Diagnosis is based on clinical symptoms, X-ray findings, and elevated serum alkaline phosphatase levels, with the most common cause being nutritional deficiencies. Treatment approaches are guided by clinical practice guidelines.
PEDIATRIC NEPHROLOGY
(2022)
Article
Medical Laboratory Technology
Felix Wachter, Adrian P. Regensburger, Antonia Sophia Peter, Ferdinand Knieling, Alexandra L. Wagner, David Simon, Andre Hoerning, Joachim Woelfle, Klaus Ueberla, Antje Neubert, Manfred Rauh
Summary: This study investigated the use of residual blood samples for monitoring SARS-CoV-2 seroprevalence in pediatrics. The results showed an increase in antibody levels over time and a significant number of unreported cases compared to official surveillance data. Additionally, a correlation was found between the incidence rates of individual provinces and the study data.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2022)
Article
Hematology
Mathias Becker, Thomas Gscheidmeier, Hans-Juergen Gross, Holger Cario, Joachim Woelfle, Manfred Rauh, Markus Metzler, Jakob Zierk
Summary: This study compared capillary and venous blood count results using a data mining method. The results showed systematic differences between the two sampling methods for several analytes. The findings of this study provide important guidance for interpreting capillary test results in children of different ages.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Article
Pediatrics
Nicole Toepfner, Martin Alberer, Tobias Ankermann, Stephan Bender, Reinhard Berner, Jan de Laffolie, Jens Dingemann, Dirk Heinicke, Johannes Peter Haas, Markus Hufnagel, Thomas Hummel, Hans-Iko Huppertz, Markus Knuf, Robin Kobbe, Thomas Luecke, Joachim Riedel, Josef Rosenecker, Joachim Woelfle, Barbara Schneider, Dominik Schneider, Valentin Schriever, Anne Schroeder, Silvia Stojanov, Tobias Tenenbaum, Stefan Trapp, Daniel Vilser, Folke Brinkmann, Uta Behrends
Summary: This consensus paper provides a detailed overview on the clinical aspects of long COVID in children and adolescents. It offers expert-based recommendations for the clinical management of long COVID in this population, based on the currently available academic evidence. The paper includes screening questions, suggestions for medical history and diagnostic evaluation, as well as a multidisciplinary therapeutic approach.
MONATSSCHRIFT KINDERHEILKUNDE
(2022)
Review
Pediatrics
Dieter Haffner, Maren Leifheit-Nestler, Andrea Grund, Dirk Schnabel
Summary: In this article, we discuss the management of different forms of rickets and new therapeutic approaches based on recent guidelines. Monitoring and supplementation of various nutrients are important aspects of management. The treatment approaches vary depending on the underlying pathophysiology, and consideration should be given to potential side effects of medications.
PEDIATRIC NEPHROLOGY
(2022)
Review
Endocrinology & Metabolism
M. Zulf Mughal, Giampiero I. Baroncelli, Carmen de Lucas-Collantes, Agnes Linglart, Andrea Magnolato, Adalbert Raimann, Fernando Santos, Dirk Schnabel, Nick Shaw, Ola Nilsson
Summary: A group of European physicians discussed the practice-based insights on the use of burosumab in children and adolescents with XLH, covering topics such as patient selection criteria, dosing, titration, and monitoring. They suggested initiating burosumab treatment in young children as early as possible and called for further studies on its continuation throughout adolescence and adulthood.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Infectious Diseases
Alisa Baer, Sabina Schmitt-Grohe, Juergen Held, Julia Lubig, Gregor Hanslik, Fabian B. Fahlbusch, Heiko Reutter, Joachim Woelfle, Adriana van der Donk, Maria Schleier, Tobias Hepp, Patrick Morhart
Summary: This single-center study provides insight into the clinical dichotomy of bacterial colonization and infection rates in neonates. The findings suggest that colonization with multidrug-resistant Gram-negative bacteria and Serratia marcescens might promote infection in some cases.
Article
Genetics & Heredity
Dirk Schnabel, Ilonka J. Kreitschmann-Andermahr, Christian Strasburger, David Pittrow, Christine Pausch, Joachim Woelfle
Summary: The INSIGHTS-GHT registry in Germany aims to provide comprehensive information on somatropin treatment in approved indications within routine clinical practice. It will document drug utilization, effectiveness, tolerability, quality of life, and other patient-related outcomes, and evaluate the data independently.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Pharmacology & Pharmacy
Maria Luisa Brandi, Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Makitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M. Carola Zillikens, Jonathan Liu, Alina Tudor, M. Zulf Mughal
Summary: This study aims to evaluate the long-term safety outcomes of burosumab treatment in patients with X-linked hypophosphataemia (XLH) and compare them with patients receiving other XLH treatments. The study will provide important safety data for the future management of XLH patients.
THERAPEUTIC ADVANCES IN CHRONIC DISEASE
(2022)