Results 31 to 40 of about 2,355 (68)

EFFICACY OF HOMOGENOUS BONE GRAFTING IN MCCUNE-ALBRIGHT SYNDROME [PDF]

open access: yes, 1985
A case of McCune-Albright syndrome is reported. The patient was a girl aged 8 years. The chief complaints were gait disturbance and a limp. Roentgenograms showed collapse and severe varus deformity of the femoral neck on the right side with 64° of neck ...
FUJITA, Atsushi   +4 more
core  

Fulvestrant treatment of precocious puberty in girls with McCune-Albright syndrome [PDF]

open access: yes, 2012
BACKGROUND: McCune-Albright Syndrome (MAS) is usually characterized by the triad of precocious puberty (PP), fibrous dysplasia, and café au lait spots. Previous treatments investigated for PP have included aromatase inhibitors and the estrogen receptor ...
Charles Sultan   +6 more
core   +1 more source

Navigating an Uninformative Genomic Test Result: A Practical Guide

open access: yesJournal of Paediatrics and Child Health, Volume 61, Issue 3, Page 344-353, March 2025.
ABSTRACT Background Although genomic testing is increasingly standard of care for diagnosing children and adults with genetic conditions, over 50% of genomic testing will return an uninformative result. Aim To provide a practical guide for paediatricians on how to approach an uninformative genomic test result, and the pathways which may be available to
Laura St Clair   +10 more
wiley   +1 more source

Treatment of Peripheral Precocious Puberty [PDF]

open access: yes, 2015
There are many etiologies of peripheral precocious puberty (PPP) with diverse manifestations resulting from exposure to androgens, estrogens, or both. The clinical presentation depends on the underlying process and may be acute or gradual.
Eugster, Erica A., Schoelwer, Melissa
core   +1 more source

Dermoscopy aids in differentiating café‐au‐lait macules from congenital melanocytic nevi in patients with darker skin phototypes

open access: yesPediatric Dermatology, Volume 42, Issue 1, Page 212-215, January/February 2025.
Abstract Dermoscopy aids in the diagnosis and management of pigmented growths and disorders of pigmentation in children. However, there is limited literature on the dermoscopic appearance of café‐au‐lait macules (CALMs) and congenital melanocytic nevi in patients with dark skin.
Asghar Shah   +2 more
wiley   +1 more source

Fibrous dysplasia : a tale of two syndromes [PDF]

open access: yes
DATA AVAILABILITY : The data that support the findings of this study are available on request from the corresponding author, J.F.Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic.
Fourie, Jacques   +3 more
core   +1 more source

Diagnostic and management challenges in paediatric Cushing's syndrome

open access: yesClinical Endocrinology, Volume 101, Issue 6, Page 631-639, December 2024.
Abstract Objective Cushing syndrome (CS) is the result of chronic exposure to glucocorticoid excess. CS in children is most often caused by the administration of exogenous steroids. Endogenous CS is rare in the paediatric population and is caused mainly by tumours of the pituitary and adrenal glands, with ectopic sources being extraordinarily rare ...
Kriti Joshi   +2 more
wiley   +1 more source

McCune Albright Syndrome: A Diagnosis to be Kept in Mind [PDF]

open access: yes, 2011
Precocious puberty, defined as the development of secondary sexual characteristics before the age of 8, often leads to anxiety in patients and their families but also in clinicians searching for the final diagnosis.
Barros, L, Bernardo, MJ, Sousa, F
core  

Atualização em etiologia, diagnóstico e manejo da precocidade sexual [PDF]

open access: yes, 2008
Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious puberty (GDPP) results from the premature activation of the hypothalamic ...
ARNHOLD, Ivo J. P.   +3 more
core   +2 more sources

Organoids: development and applications in disease models, drug discovery, precision medicine, and regenerative medicine

open access: yesMedComm, Volume 5, Issue 10, October 2024.
Four main applications of organoids. The main applications of organoids include the construction of disease models, drug screening and toxicity evaluation, precision medicine, and regenerative medicine. Abstract Organoids are miniature, highly accurate representations of organs that capture the structure and unique functions of specific organs ...
Qigu Yao   +6 more
wiley   +1 more source

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