Results 41 to 50 of about 5,227,561 (214)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Should a paediatrician perform abdominal ultrasonography inchildren of parents with polycystic kidney disease? [PDF]

, 2016
Autosomal dominant polycystic kidney disease produces symptoms mainly in adulthood. Renal cysts and/or elevated blood pressure can be the first signs of the disease in children.
Krzysztof Wróblewski, Marcin Tkaczyk, Tkaczyk, Marcin, Afshari, Susan, Katarzyna Młudzik, Wróblewski, Krzysztof, Młudzik, Katarzyna, Piotr Grzelak, Grzelak, Piotr, Susan Afshari   +9 more
core   +1 more source

Innovation of plant‐derived extracellular vesicles and interdisciplinary research: From discovery to biomedical applications

BMEMat, EarlyView.
Plant‐derived extracellular vesicles offer numerous advantages and are regarded as highly promising candidates in the field of biomedicine. Abstract Extracellular vesicles (EVs) are double‐membrane vesicular structures that can be secreted by nearly all living cells.
Zilin Li, Yi Wei, Ben Hu, Yafang Song, Xiaojia Chen, Nik Ahmad Nizam Nik Malek, Tongkai Chen   +6 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

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

Menopause hormone therapy in women with cardiovascular risk factors or established ischemic heart disease: A joint FIGO and WHF position paper

International Journal of Gynecology &Obstetrics, EarlyView.
Integrated approach to menopausal hormone therapy in women with cardiovascular risk factors or established ischemic heart disease, from early treatment initiation and risk stratification to individualized therapy, multidisciplinary follow‐up, and health‐system recommendations.
Chiara Benedetto, Martha Gulati, Suvarna S. Khadilkar, Angela H. E. M. Maas, Federica Frezet, Gláucia Maria Moraes de Oliveira, Andrea R. Genazzani, Hema Divakar, Athena Poppas, on behalf of the World Heart Federation (WHF) and the International Federation of Gynecology and Obstetrics (FIGO)   +9 more
wiley   +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

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