Results 61 to 70 of about 2,445,354 (228)

Dowling-Degos Disease: Case Report and Review of the Literature [PDF]

, 2010
Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Baran, Wojciech, Batycka-Baran, Aleksandra, Burgdorf, Walter H. C., Hryncewicz-Gwozdz, Anita   +3 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Síndrome Leopard e miocardiopatia hipertrófica: uma associação relacionada à morte súbita Síndrome leopard y miocardiopatía hipertrófica: una asociación relacionada a la muerte súbita Leopard syndrome and hypertrophic cardiomyopathy: an association related to sudden death

Arquivos Brasileiros de Cardiologia, 2009
Relatamos a rara associação entre síndrome Leopard e miocardiopatia hipertrófica em mulher de 27 anos, pouco sintomática, que veio para estratificação e prevenção de risco de morte súbita.
Murillo de Oliveira Antunes, Edmundo Arteaga, Afonso Yoshikiro Matsumoto, Barbara Maria Ianni   +3 more
doaj   +1 more source

Flagellin induces β-defensin 2 in human colonic ex vivo infection with enterohemorrhagic Escherichia coli [PDF]

, 2016
Enterohemorrhagic E. coli (EHEC) is an important foodborne pathogen in the developed world and can cause life-threatening disease particularly in children.
Chan, Simon, Cook, Vivienne, Ellis, Samuel, Gelson, William, Lewis, Steven, Prior, Alison, Schuller, Stephanie   +6 more
core   +1 more source

Safeguarding a Flagship Species: Integrated Surveillance of Cross‐Species Pathogen Transmission in Giant Panda Ecosystems

Ecology and Evolution, Volume 16, Issue 3, March 2026.
Emerging infectious diseases increasingly threaten giant pandas and cohabiting species. This review analyzes pathogen transmission risks from domestic animals, wildlife, and vectors and proposes an integrated genomic surveillance framework for early warning and biodiversity conservation.
Xiaoli Sun, Yi Peng, Xiaoye Hao, Rong Dong, Zhilin Wang, Le Wang, Chengdong Wang, Xiangdong Wu, Zheng Chen, Wenbo Zhang, Xiaoli Tang   +10 more
wiley   +1 more source

Noonan Syndrome: A Case Report

Annals of Health Research, 2018
The clinical findings and treatment options of cardiovascular abnormalities in a 20-year old male patient with Noonan syndrome are described with literature review.
Khan Fahad, Waqar Sumaita, Noor Ul Ain Jamal, Asra Saleem   +3 more
doaj   +1 more source

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management

Veterinary Ophthalmology, Volume 29, Issue 2, March 2026.
ABSTRACT A 15‐week‐old Australian Labradoodle puppy was presented to The University of Queensland Small Animal Hospital for bilateral eyelid agenesis/coloboma and associated ocular complications. Enucleation of the left globe and repair of the right eyelid via a lip‐to‐lid transmucosal flap was performed. Given the subsequent development of prolapse of
Chi Hin Ng, Ticiana Brasil Ervedosa, José Granados Soler, Megan Elizabeth Climans, Viviana Gonzalez‐Astudillo   +4 more
wiley   +1 more source

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

Orphanet Journal of Rare Diseases, 2019
The concomitant occurrence of hypertrophic cardiomyopathy and congenital heart defect in patients with RASopathies has previously been reported as associated to a worse clinical outcome, particularly closed to cardiac surgery.
Giulio Calcagni, Maria Cristina Digilio, Bruno Marino, Marco Tartaglia   +3 more
doaj   +1 more source

Rare Case of Bilateral Diffuse Uveal Melanocytic Proliferation with Dermal and Mucosal Hyperpigmentations

Diagnostics, 2021
Purpose: The demonstration of a rare case of bilateral diffuse uveal melanocytic proliferation (BDUMP) due to a lung carcinoma with unusual dermal lesions.
Michelle Prasuhn, Nathalie Rommel, Vinodh Kakkassery, Salvatore Grisanti, Mahdy Ranjbar, Felix Rommel   +5 more
doaj   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source