Results 91 to 100 of about 23,786 (267)

Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? [PDF]

, 2010
A 5-year-old girl was referred to the Department of Pediatrics and Neonatology, Guglielmo da Saliceto Hospital, Italy, because of growth retardation.
Giacomo Biasucci, Piera Manfredi, Biasucci G   +2 more
core   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Diagnosis, Genetics, and Therapy of Short Stature in Children : A Growth Hormone Research Society International Perspective [PDF]

, 2019
The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists ...
Bidlingmaier, Martin, Jorge, Alexander A.L., Boguszewski, Margaret C.S., Gong, Chunxiu, Kamenicky, Peter, Cohen, Laurie E., Backeljauw, Philippe F., Hasegawa, Yukihiro, Misra, Madhusmita, Kriström, Berit, Khadilkar, Vaman, Saenger, Paul, Woelfle, Joachim, Luo, Xiaoping, Radovick, Sally, Hoffman, Andrew R., Collett-Solberg, Paulo F., Rosenfeld, Ron G., Biller, Beverly M. K., Hofman, Paul L., Cheung, Pik To, Netchine, Irene, Rogol, Alan D., Kriström, Berit,, Choong, Catherine Seut Yhoke, Lopes, Maria de Lurdes A., Wit, Jan M., Biller, Beverly M.K., Cohen, Pinchas, Kopchick, John J., Horikawa, Reiko, Miller, Bradley S., Deal, Cheri L., Ambler, Geoffrey, Boguszewski, Margaret C. S., Juul, Anders, Ranke, Michael B., Dauber, Andrew, Jorge, Alexander A. L.   +38 more
core   +1 more source

Distal Phalangeal Physeal Closure Preceding Ossification of the Thumb Adductor Sesamoid: A Case Report

Journal of Orthopaedic Case Reports
Introduction: Assessment of skeletal maturity is fundamental to pediatric orthopedic practice, as remaining growth potential influences prognosis and treatment decisions.
Shane Ross, Sarah Lu, Samuel Beber, Katherine Groff, Diego Jaramillo, Shevaun Doyle   +5 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome [PDF]

, 2017
Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma.
A-Leum Han, Kyoung Soon Cho, Won Kyoung Cho, Moon Bae Ahn, Shin Hee Kim, So Hyun Park, Min Ho Jung, Byung-Kyu Suh, Sang Soo Lee   +8 more
core   +1 more source

Detection of metabolic syndrome features among childhood cancer survivors: A target to prevent disease

Vascular Health and Risk Management, 2008
Adriana Aparecida Siviero-Miachon1, Angela Maria Spinola-Castro1, Gil Guerra-Junior21Division of Pediatric Endocrinology, Department of Pediatrics, Federal University of Sao Paulo – UNIFESP/EPM, Brazil; 2Division of Pediatric Endocrinology ...
Adriana Aparecida Siviero-Miachon, Angela Maria Spinola-Castro, Gil Guerra-Junior   +2 more
doaj  

Diagnosis and management of growth disorders in Gulf Cooperation Council (GCC) countries: Current procedures and key recommendations for best practice

International Journal of Pediatrics & Adolescent Medicine, 2016
Diagnosis and management of growth disorders comprises an important area of pediatric practice. Current procedures in the different stages of the identification, referral, investigation, and treatment of growth disorders in the Gulf Cooperation Council ...
Abdullah S. Al Herbish, Angham Almutair, Bassam Bin Abbas, Afaf Alsagheir, Mohammed Alqahtani, Walid Kaplan, Asma Deeb, Ahmed El-Awwa, Mona Al Khawari, Ekaterina Koledova, Martin O. Savagej   +10 more
doaj   +1 more source

Age‐associated immune dysregulation links to disease severity in macrolide‐resistant Mycoplasma pneumoniae pneumonia: Insights from a comparative juvenile–adult mouse model

Animal Models and Experimental Medicine, EarlyView.
Macrolide‐resistant Mycoplasma pneumoniae (MRMP) infected both juvenile and adult mice, with results compared to normal juvenile mice. The findings revealed comparable bacterial loads between juvenile and adult mice, yet juvenile mice exhibited more severe lung damage and elevated levels of inflammatory cytokines.
Xuejun Li, Yudong Wang, Liyong Liu, Mengmeng Gong, Jinlong Wang, Yuqing Cao, Zhixin Sun, Fanliang Meng, Qiuyan Wang, Hongji Wu, Fei Zhao, Yan Ma, Yibai Xiong   +12 more
wiley   +1 more source