Results 51 to 60 of about 5,508,271 (271)

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

Rapidly Progressive Glomerulonephritis in Autosomal Dominant Polycystic Kidney Disease

, 2015
Patients with autosomal dominant polycystic kidney disease (ADPKD) can suffer from the same causes of acute kidney injury as the general population. Affected individuals may present with hematuria and proteinuria (usually less than 1g/day).

core   +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

Treatment of polycystic liver disease

British Journal of Surgery, 2009
A range of ...
Keimpema, L. van, Hockerstedt, K.
openaire   +3 more sources

Exposure‐adjusted safety and efficacy of GLP‐I and GLP‐1/GIP receptor agonists compared with non‐GLP‐I for weight management and type 2 diabetes: Based on FDA medical and statistical reports of 34 280 safety and 36 312 efficacy subjects

British Journal of Clinical Pharmacology, EarlyView.
Aims This work aimed to contextualize glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) and glucose‐dependent insulinotropic polypeptide (GIP) receptor agonists safety and efficacy regarding weight management (WM); we analysed Food and Drug Administration (FDA) Medical Reviews to analyse 14 medications using patient‐exposure year normalization and ...
Aishwarya Prasad, Anshu Arora, Arun Arora, Jeena Vaid, Arif Khan   +4 more
wiley   +1 more source

A case of polycystic liver disease [PDF]

, 2001
A 45-year-old female was admitted to our hospital with sever abdominal fullness, and was diagnosed as polycystic liver disease with ultrasonography, abdominal CT and abdominal angiography.
Tsuji, Takao, Takahito YAGI, Takao TSUJI, Tanaka, Noriaki, Kohsaku SAKAGUCHI, Nouso, Kazuhiro, Noriaki TANAKA, Sakaguchi, Kohsaku, Yutaka NAKANISHI, Kazuhiro NOUSO, Matsuda, Hiroaki, Hiroyuki SHIMOMURA, Yagi, Takahito, Hiroaki MATSUDA, Iwasaki, Yoshiaki, Nakanishi, Yutaka, Shimomura, Hiroyuki, Yoshiaki IWASAKI   +17 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

Autoimmune Liver Disease Associated With Celiac Disease in Childhood: A Multicenter Study

, 2008
Patients with autoimmune liver disease might have a hidden celiac disease, suggesting a rigorous check in any cryptogenic liver ...
VAJRO P, SIGENP STUDY GROUP FOR AUTOIMMUNE LIVER DISORDERS IN CELIAC DISEASE, VENTURA, ALESSANDRO, CAPRAI S, MAGGIORE G, SCIVERES M   +5 more
core   +1 more source

Chronic brucellosis with hepatic brucelloma and AA amyloidosis in a patient with autosomal dominant polycystic kidney disease

Autopsy and Case Reports, 2020
We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium.
Arpitha Kollabathula, Vikarn Vishwajeet, Kirti Gupta, Suvradeep Mitra, Vibhav Sharma, Pallab Ray, Ashish Bhalla   +6 more
doaj   +1 more source

The effects of somatostatin analogues on liver volume and quality of life in polycystic liver disease: a meta-analysis of randomized controlled trials

Scientific Reports, 2021
A clear evidence on the benefits of somatostatin analogues (SA) on liver outcome in patients affected by polycystic liver disease is still lacking. We performed a meta-analysis of RCTs and a trial sequential analysis (TSA) evaluating the effects of SA in
Carlo Garofalo, Ivana Capuano, Luigi Pennino, Ilaria De Gregorio, Eleonora Riccio, Michele Provenzano, Felice Crocetto, Pasquale Buonanno, Savio Domenico Pandolfo, Michele Andreucci, Antonio Pisani   +10 more
doaj   +1 more source