Results 61 to 70 of about 101,655 (304)

Pancreatic Atrophy: A Narrative Review and Surgical Interpretation

Annals of Gastroenterological Surgery, EarlyView.
Pancreatic parenchymal atrophy pattern and intraoperative margin assessment guide surgical strategy. ABSTRACT Despite recent advances in multimodal management, pancreatic ductal adenocarcinoma remains a fatal malignancy. Early detection of indirect findings of pancreatic ductal adenocarcinoma is essential to improve treatment outcomes, drawing ...
Rika Fujino, Ken‐ichi Okada, Yohei Masugi, Eisuke Iwasaki, Masaki Mori   +4 more
wiley   +1 more source

Hereditary Renal Cystic Diseases

Turkish Journal of Nephrology, 2019
Polycystic kidney disease is one of the most common reasons of end stage renal failure. Polycystic kidney disease may result from many etiological factors, but frequently arises hereditarily.
Alper UZAK, M. Deniz AYLI
doaj  

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

ENFERMEDAD QUISTICA RENAL EN LA EDAD PEDIÁTRICA

Revista Chilena de Radiología, 2007
Las enfermedades quísticas renales incluyen una variada gama de patologías y representan un desafío diagnóstico tanto para el clínico como para el radiólogo. Existen diversas clasificaciones, que puede crear confusión en la interpretación de las imágenes.
Carolina Pérez S, Karla Moénne B
doaj  

Microscopic Haematuria [PDF]

, 2005
A 30 year old man is referred for a medical check up before taking a life insurance policy. He is asymptomatic, gives no relevant history, is on no treatment and physical examination is unremarkable. Routine dip-stick analysis of a mid­stream specimen of
Vella, Mario P.
core  

Independent Information of Nonspecific Biomarkers in Exhaled Breath Condensate [PDF]

, 2010
Background: Exhaled breath condensate (EBC) has been used for diagnosing and monitoring respiratory disorders. For clinical purposes the assessment of easy-to-obtain nonspecific markers seems particularly interesting.
Behr, Jürgen, Dressel, Holger, Fischer, Rainald, Hohlfeld, Jens M., Huber, Rudolf M., Jörres, Rudolf A., Müller, Florian, Nowak, Dennis, Römmelt, Horst   +8 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Cystic Kidney Diseases From the Adult Nephrologist’s Point of View

Frontiers in Pediatrics, 2018
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease.
Roman-Ulrich Müller, Thomas Benzing
doaj   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Palliative care for people with non-malignant lung disease: summary of current evidence and future direction [PDF]

, 2013
Background: The physical and psychosocial needs of patients with chronic non-malignant lung disease are comparable to those with lung cancer. This article will focus on chronic obstructive pulmonary disease, interstitial lung disease and cystic fibrosis ...
Boland, Jason, Martin, Jonathan, Ross, Joy R, Ross, Joy R., Wells, Athol U, Wells, Athol U.   +5 more
core   +1 more source