Results 251 to 260 of about 4,846,243 (320)

A Pediatric Case of Homocystinuria Due to MTHFR Deficiency with Early Clinical Features Resembling Leigh Encephalopathy. [PDF]

Children (Basel)
Itabashi T, Abe J, Nakajima M, Ueda Y, Egawa K, Nagao M, Takeda A.   +6 more
europepmc   +1 more source

When meta‐analyses mislead: Promises and pitfalls in teratology counselling

British Journal of Clinical Pharmacology, EarlyView.
Meta‐analysis has become a central tool for evidence synthesis in clinical teratology, offering the promise of increased statistical power, earlier signal detection and consolidated guidance for teratology counselling. When conducted rigorously and interpreted carefully, pooled analyses can provide clinicians with a structured basis for risk ...
Yusuf Cem Kaplan, Nusret Uysal
wiley   +1 more source

Enteropathy in inborn and acquired errors of immunity: histological patterns and clinical correlates. [PDF]

Front Immunol
Thangarajah M, Ojaimi S, Kane A, Swaminathan S, Lin MW, Pinzon-Charry A, Templeton T, McNaughton P, Le TA, Katelaris CH, Bosco J, Berglund LJ.   +11 more
europepmc   +1 more source

CYP3A5 genetic variability influences sildenafil and metabolite in pulmonary hypertension

British Journal of Clinical Pharmacology, EarlyView.
Aim Interindividual variability in sildenafil response among pulmonary hypertension patients (PH) may be influenced by CYP3A5 polymorphisms. CYP3A5*3 allele reduces CYP3A5 activity and affects sildenafil metabolism. This study investigated the associations between CYP3A5 genotype and plasma concentrations of sildenafil and N‐desmethyl sildenafil, as ...
Pranisa Wongwien, Burabha Pussadhamma, Sirimas Kanjanawart, Thikhumporn Areesinpitak, Nontaya Nakkam, Chingching Foocharoen, Wichittra Tassaneeyakul, Suda Vannaprasaht   +7 more
wiley   +1 more source

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies. [PDF]

J Inherit Metab Dis
Spiekerkoetter U, Vockley J.
europepmc   +1 more source

Prevalence of pregnancy and birth outcomes following biologic exposure in immune‐mediated inflammatory diseases: A population‐based study

British Journal of Clinical Pharmacology, EarlyView.
Aims Almost 5% of pregnancies are affected by immune‐mediated inflammatory diseases (IMIDs). As treatments become available, understanding their use during pregnancy is important. We aimed to describe maternal, pregnancy and infant outcomes among IMID pregnancies exposed to biologic therapies. Methods Using the Merative™ MarketScan® Commercial Database,
Leah K. Flatman, Lisiane F. Leal, Gabra Nohmie, Anick Bérard   +3 more
wiley   +1 more source

Rare variants in genes related to inborn errors of immunity in patients with rheumatoid arthritis and secondary immunodeficiency. [PDF]

RMD Open
Atschekzei F, Dubrowinskaja N, Anim M, Steinemann D, von Hardenberg S, Hofmann W, Geffers R, Witte T, Sogkas G.   +8 more
europepmc   +1 more source

Optimized micro‐sized cell sphere‐matrix niche co‐aggregates promote efficient oral and craniomaxillofacial bone regeneration

BMEMat, EarlyView.
The construct of cell‐niche co‐aggregates (GelMA‐SHED sphere‐DDMPs) promotes cranial and periodontal bone regeneration and ensures angiogenic‐osteogenic coupling by downregulating miR‐34c‐5p to enhance the expression of NOTCH1 and its intracellular domain (NICD).
Xiao‐Hui Zhang, Shi‐Han Mu, Yi‐Han Xiao, Lu‐Fan Yang, Peng‐Fei Wang, Teng‐Fei Hu, Jun‐Xi He, Jiong‐Zhen Piao, Sha Zhang, Jin‐Yu Liu, Yi‐De He, Ying‐Ying Wu, Si‐Qi Ying, Xin‐Yue Cai, Chen‐Han Li, Zi‐Qi Zhang, Xiao Lei, Ji Chen, Jian‐Fei Liang, Yan Jin, Bing‐Dong Sui, Chao Ma, Chen‐Xi Zheng, Fang Jin   +23 more
wiley   +1 more source

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Developmental Morphometry of the Paranasal Sinuses in Subjects Aged 1–25 Years: A Computed Tomography Study

Clinical Anatomy, EarlyView.
ABSTRACT The present study aimed to evaluate the developmental morphometry of the paranasal sinuses using computed tomography (CT) in subjects aged 1–25 years and to characterize age‐related changes in sinus dimensions, volume, and surface area throughout childhood, adolescence, and young adulthood.
Ceyda Şevval Çetin, Aslıhan Artaş, Ali Atadağ, Ömer Faruk Cihan, Orhan Beger   +4 more
wiley   +1 more source