Results 91 to 100 of about 179,959 (301)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Development of plant epidemiological surveillance networks, data exchanges and joint response strategies in the Caribbean: the french experience [PDF]

, 2009
Plant pests and pathogens have the potential to emerge and spread rapidly, cause severe losses and threaten food security worldwide. Such a threat is increased by the rise of commercial exchanges of germplasm and fresh produce and by global warming. This
Abadie, Catherine, Iotti, Jean, Teycheney, Pierre-Yves   +2 more
core  

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Pine wilt disease and red ring disease of coconut: opportunities and perspectives in the study of two nematodes Bursaphelenchus xylophilus and B. cocophilus. [PDF]

, 2012
The xylophagous nematodes Bursaphelenchus cocophilus and B. xylophilus (Nematoda: Parasitaphelenchidae), are causative agents of two serious diseases, “red ring disease” (RRD) with great importance to coconut and certain oil palm species in Central and ...
Espada, Margarida, Mota, Manuel, Nascimento, Francisco, Souza, Ricardo, Vicente, Cláudia, Vieira, Paulo   +5 more
core  

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

An assessment tool and integrated index for sustainable oil palm production [PDF]

, 2010
Many prominent sectors of the international agricultural commodities market have been calling upon their stakeholders to define and implement social responsibility and sustainability benchmarks, aiming at product quality and production practices ...
Caliman, Jean-Pierre, Stachetti Rodrigues, Géraldo, Verwilghen, Aude   +2 more
core  

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Bowen’s disease on the palm: A case report

World Journal of Clinical Cases, 2019
Bowen's disease (BD) is a persistent, progressive intraepidermal carcinoma. BD usually occurs in areas exposed to sunlight. Involvement of the dorsum of the hand is not rare, but that of the palmar aspect is very unusual. Only a few cases have been reported in the literature.Here, we report the case of a 48-year-old male patient who presented with a ...
Yu, Shi-Rong, Zhang, Jing-Zhan, Pu, Xiong-Ming, Kang, Xiao-Jing   +3 more
openaire   +2 more sources

Conditioning Electrical Stimulation for Patients with Moderate or Severe Carpal Tunnel Syndrome: Double Blinded Randomized Controlled Trial

Annals of Neurology, EarlyView.
Objective Carpal tunnel syndrome (CTS) can drastically impair one's ability to work and interferes with activities of daily living. We recently demonstrated that, in rodents, conditioning electrical stimulation (CES) delivered to the nerve 7 days prior to surgery imparts a conditioning lesion‐like effect by accelerating the rate of regeneration along ...
Yusuke Osaki, Jaret L. Olson, Michael J. Morhart, Matthew W. Curran, Douglas W. Zochodne, K. Ming Chan, on behalf of the Central and Northern Alberta Peripheral Nerve Injury Research Consortium, Hollie Power, Adil Ladak, Lindsay Hubenig, Alto Lo, Christine Webber, Karyne Rabey, Andrew Jack, Joe Watt, Mithun Rajshekar, Ellen Lee, Glyn Murgatroyd, Dan Yeung, Kathleen O'Grady   +19 more
wiley   +1 more source

Tau Pathology in Alzheimer's Disease Uniquely Affects Sulcal Depths

Annals of Neurology, EarlyView.
Objective Though it is widely known that tau deposition affects brain structure, the precise localization of these effects is poorly understood, especially in relation to gyral and sulcal anatomy. We investigated whether tau pathology in Alzheimer's disease (AD) preferentially affects sulci, and particularly sulcal depths.
Samira A. Maboudian, Corrina S. Fonseca, Adam C. Martersteck, Yishu Chao, Yuheng Chen, Daniela Ushizima, Duygu Tosun, Lea T. Grinberg, Kevin S. Weiner, William J. Jagust, for the Alzheimer's Disease Neuroimaging Initiative   +10 more
wiley   +1 more source