Results 101 to 110 of about 488,068 (360)

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

No increased risk of spinal cerebrospinal fluid leak after spinal manipulative therapy: A retrospective cohort study

PM&R, EarlyView.
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager, Collin M. Labak, Anthony N. Baumann, Tyler H. Snodgrass, Zachary A. Cupler   +4 more
wiley   +1 more source

Recent Advances in the Management of Autosomal Dominant Polycystic Kidney Disease.

American Society of Nephrology. Clinical Journal, 2018
Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic cause of ESKD, is characterized by relentless development of kidney cysts, hypertension, and destruction of the kidney parenchyma. Over the past few years, major advancements
F. Chebib, V. Torres
semanticscholar   +1 more source

Combined liver-kidney transplantation: Analysis of patients with preformed lymphocytotoxic antibody [PDF]

, 1988
In this report, we address combined liver-kidney transplantation, with particular attention to the apparent phenomenon of protection of kidney allografts to antibody mediated destruction by liver allografts.
Duquesnoy, R, Fung, J, Gordon, R, Griffin, M, Klintmalm, G, Makowka, L, Starzl, T, Todo, S, Tzakis, A   +8 more
core  

Urine Fetuin-A is a biomarker of autosomal dominant polycystic kidney disease progression. [PDF]

, 2015
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by numerous fluid-filled cysts that frequently result in end-stage renal disease. While promising treatment options are in advanced clinical development,
Bernet, F., Bonny, O., Chehade, H., Constam, D.B., Firsov, D., Guihard, L., Leonhard, W.N., Peters, D.J., Piazzon, N., Piergiovanni, S., Urfer, S., Vogt, B.   +11 more
core   +2 more sources

Impact of barometric pressure on blood pressure during dialysis: Introducing intradialytic time‐averaged cumulative systolic blood pressure (TACsBP‐inD) as a new metric

Therapeutic Apheresis and Dialysis, Volume 29, Issue 3, Page 525-534, June 2025.
Abstract Background Blood pressure is a crucial risk factor for hemodialysis patients, but the specific impact of weather factors, particularly barometric pressure, on blood pressure remains unclear. This study aims to examine the relationship between barometric pressure and blood pressure in hemodialysis patients. Methods We conducted a single‐center,
Kosaku Iwatsubo, Shouichi Fujimoto, Michikazu Nakai   +2 more
wiley   +1 more source

Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways

Communications Biology, 2018
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder caused by loss-of-function mutations in PKD1 or PKD2. Increased glycolysis is a prominent feature of the disease, but how it impacts on other metabolic pathways is unknown.
C. Podrini, I. Rowe, R. Pagliarini, Ana S. H. Costa, M. Chiaravalli, Ivano Di Meo, Hyunho Kim, Gianfranco Distefano, V. Tiranti, F. Qian, D. di Bernardo, C. Frezza, A. Boletta   +12 more
semanticscholar   +1 more source

Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior [PDF]

, 2003
Caenorhabditis elegans polycystins LOV-1 and PKD-2 are expressed in the male-specific HOB neuron, and are necessary for sensation of the hermaphrodite vulva during mating. We demonstrate that male vulva location behavior and expression of lov-1 and pkd-2
Bürglin, Thomas R., Prétôt, René F., Sternberg, Paul W., Yu, Hui   +3 more
core   +1 more source

Comparison of severe maternal morbidity between pregnancy with subclinical hypothyroidism and overt hypothyroidism

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
In this cross‐sectional study, pregnancy with subclinical hypothyroidism was associated with higher rates of severe maternal morbidity at delivery compared with overt hypothyroidism, including cardio‐pulmonary morbidity and eclampsia. This association was especially seen among younger age, Black individuals, prepregnant hypertension, and obesity ...
Laurel S. Aberle, Katherine E. Bayard, Kimberly M. Juarez, Jennifer A. Yao, Shinya Matsuzaki, Tatsuya Miyake, Aaron D. Masjedi, Rachel S. Mandelbaum, Caroline T. Nguyen, Joseph G. Ouzounian, Koji Matsuo   +10 more
wiley   +1 more source

Tuberous sclerosis associated with autosomal dominant polycystic kidney disease: Case report about of the TSC2/PKD1 contiguous gene syndrome

Medicina, 2016
We present a case of a young woman with chronic kidney disease, with a history of seizures, episodes of spontaneous pneumothorax and left nephrectomy. The retrospective study of the image exams showed liver, kidney and lung cysts; in addition to cortical
Rodolfo M. Queiroz, Michela P. Gomes, Marcus V. N. Valentin, Cecília H. Miyake, Lucas G. Abud, Marcio de Castro e Silva   +5 more
doaj   +1 more source