Results 61 to 70 of about 53,957 (281)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Effect of adequate daily water intake versus inadequate water intake on the risk of major chronic diseases in healthy adults: a systematic review protocol

Systematic Reviews
Background Chronic diseases (cardiovascular, cancer, respiratory, diabetes and chronic kidney disease) account for over 80% of global mortality and remain a leading public health challenge. Although water intake is essential to physiological function and
Lavra Nanayakkara, Anna Rangan, Gopala Rangan   +2 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Characterizing the ADPKD-IFT140 Phenotypic Signature With Deep Learning and Advanced Imaging Biomarkers

Kidney International Reports
Introduction: ADPKD-IFT140 is the third most common disease-causing variant in autosomal dominant polycystic kidney disease (ADPKD) after ADPKD-PKD1 and ADPKD-PKD2.
Ahmad Ghanem, Fadi George Munairdjy Debeh, Abdul Hamid Borghol, Nikola Zagorec, Amanda L. Tapia, Byron Smith, Stefan Paul, Abdul Basit, Bassel AlKhatib, Nay Nader, Marie Therese Bou Antoun, Adriana V. Gregory, Hana Yang, Rachel S. Schauer, Neera K. Dahl, Christian Hanna, Vicente E. Torres, Timothy L. Kline, Peter C. Harris, Emilie Cornec-Le Gall, Fouad T. Chebib   +20 more
doaj   +1 more source

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome

Kidney Medicine, 2019
Alport syndrome is a hereditary glomerular nephritis associated with hearing loss and eye abnormalities and is classified as X-linked Alport syndrome, autosomal recessive Alport syndrome, and autosomal dominant Alport syndrome.
Taro Akihisa, Masayo Sato, Yoshie Wakayama, Sekiko Taneda, Shigeru Horita, Orie Hirose, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki   +12 more
doaj   +1 more source

Diagnosis and Treatment Modalities of Symptomatic Polycystic Kidney Disease

, 2015
Polycystic kidney disease (PKD) can cause end stage kidney disease with an autosomal dominant inheritance pattern. Besides renal replacement therapy or renal transplantation, there are no other curative therapies.

core   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

A Review of Rare Associations of Horseshoe Kidney: Highlight of a Rare Clinical Case of Polycystic Horseshoe Kidney, Liver Cyst, and Uterine Prolapse

European Medical Journal Urology, 2020
Horseshoe kidney is the most common renal fusion anomaly occurring in 0.15–0.25% of the general population. Horseshoe kidney is usually asymptomatic but may present with disease-like infections, urolithiasis, malignancy, polycystic disease, and other ...
Ayun Cassell, Mohamed Jalloh, Papa S. Diop, Mouhamadou M. Mbodji, Medina Ndoye, Abdourahmane Diallo, Saint Charles Kouka, Issa Labou, Lamine Niang, Serigne M. Gueye   +9 more
doaj   +1 more source

Potential Deleterious Effects of Vasopressin in Chronic Kidney Disease and Particularly Autosomal Dominant Polycystic Kidney Disease [PDF]

, 2011
The antidiuretic hormone vasopressin is crucial for regulating free water clearance in normal physiology. However, it has also been hypothesized that vasopressin has deleterious effects on the kidney.
Gansevoort, R. T., Boertien, W. E., Meijer, E., Zietse, R.   +3 more
core   +1 more source