Results 91 to 100 of about 10,204 (285)
Jaffe Lichtenstein Type Polyostotic Fibrous Dysplasia with Unilateral Absent Testis [PDF]
Journal of Clinical and Diagnostic Research, 2018 Fibrous dysplasias are developmental bone disorders in which the medullary cavity is replaced by fibrous tissue. It can be monostotic involving a single bone or polyostotic involving multiple bones.
Anand Ramakrishnan +3 more
doaj +1 more source
A Dominant Mutation in Gαs‐Protein Increases Hair Pigmentation
Pigment Cell &Melanoma Research, Volume 38, Issue 3, May 2025.ABSTRACT We have identified a chemically induced mouse mutation which increases the eumelanic hair pigmentation. We identify a coding mutation, A3533G, resulting in an amino acid substitution Y1133C, in the Gnas gene encoding the Gαs subunit of the tripartite G‐protein, consistent with an activation of signalling via MC1R.
Philip S. Goff +8 more
wiley +1 more source
A rare pediatric case of McCune–Albright syndrome with acute visual disturbance
Medicine, 2022 Rationale: McCune–Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture.
H. Ninomiya +14 more
semanticscholar +1 more source
Optimal Single-Shot Decoding of Quantum Codes [PDF]
arXiv, 2023 We discuss single-shot decoding of quantum Calderbank-Shor-Steane codes with faulty syndrome measurements. We state the problem as a joint source-channel coding problem. By adding redundant rows to the code's parity-check matrix we obtain an additional syndrome error correcting code which addresses faulty syndrome measurements.
arxiv
Clinical Case Reports, Volume 13, Issue 4, April 2025.ABSTRACT Pituitary neuroendocrine tumors can sometimes present with leptomeningeal seeding at their initial diagnosis, emphasizing the need for thorough evaluation in cases of leptomeningeal involvement. Additionally, it is crucial for general physicians to inquire about a patient's menstrual status, particularly in low socioeconomic conditions, as ...
Sadegh Bagherzadeh +3 more
wiley +1 more source
Human Pathology: Case Reports, 2019 A pituitary tumor is a common manifestation of the endocrinopathies criterion in McCune Albright syndrome. Herein, we report a 12-year-old male with McCune Albright syndrome, who presented with dysmorphic features and tall stature, then, underwent a ...
Sadeem Al-Subaie +3 more
doaj
Peripheral precocious puberty including congenital adrenal hyperplasia: causes, consequences, management and outcomes [PDF]
, 2019 Peripheral precocious puberty results from peripheral production of sex steroids independent of activation of the hypothalamic-pituitary gonadal axis. It is much less common than central precocious puberty.
Eugster, Erica A., Haddad, Nadine G.
core +1 more source
Clinical Case Reports, Volume 13, Issue 4, April 2025.ABSTRACT Due to its rare incidence, pituitary adenoma requires high vigilance and suspicion. Therefore, physicians should consider this differential diagnosis and perform the necessary workup, such as an overnight or standard dexamethasone suppression test and brain magnetic resonance imaging (MRI), to rule it out if sudden hormonal changes without any
Shadi Niliyeh +4 more
wiley +1 more source
McCune Albright Syndrome: A Diagnosis to be Kept in Mind [PDF]
, 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
Hot water epilepsy and Mccune–Albright syndrome: A case report [PDF]
, 2009 We observed a 15-year-old Caucasian boy with a rare form of reflex epilepsy, known as hot water epilepsy (HWE), associated to McCune–Albright syndrome (MAS).
Belcastro, Vincenzo +5 more
core +1 more source