Results 131 to 140 of about 43,008 (246)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

Case Reports in Neurological Medicine
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes.
Keval Thakkar, Fnu Raveena, Aakash Kumar, Doongro Mal, Dileep Kumar, Neha Ahuja, Rahul Mandhan, Aqsa Baig, Manjeet Singh, Heeya Shah, Taha Sajjad, Mansi Singh   +11 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

A 24-year-Old woman with recurrent pneumothoraces

Respiratory Medicine Case Reports
Lymphangioleiomyomatosis (LAM) is an abnormal proliferation of smooth muscle-like cells and may occur sporadically or in association with tuberous sclerosis complex.
Daniel J. Greenberg, Anuraag Sah, Amit Chopra, Nagendra Madisi   +3 more
doaj   +1 more source

Embolic Agent Selection and Outcomes in Renal Angiomyolipoma Embolisation

Journal of Medical Imaging and Radiation Oncology, EarlyView.
ABSTRACT Purpose To evaluate whether embolic agent selection influences outcomes following selective arterial embolisation (SAE) of renal angiomyolipomas (r‐AMLs) and to assess procedural safety and effects on renal function. Materials and Methods A retrospective observational study was performed of all r‐AML SAEs undertaken at a tertiary institution ...
Ross O'Shea, Himanshu Pendse, Kevin Ho, Hasan Hasan, Ross Vander Wal, Matthys Van Wyk, Jonathan Tibballs, Gurjeet Dulku   +7 more
wiley   +1 more source

Pulmonary tuberous sclerosis [PDF]

, 2009
Pulmonary involvement in tuberous sclerosis is very rare and seems to be associated with a more benign course. We present a 21-year-old woman with bilateral angiomyolipoma.
Razi, E.
core  

Artificial intelligence‐based statistical modeling delineates architectural distortion in focal cortical dysplasia

Brain Pathology, EarlyView.
Histopathological identification of subtle cortical architectural abnormalities in focal cortical dysplasia (FCD) resections remains challenging. We investigated if artificial intelligence (AI)‐based morphometric and spatial analysis of NeuN‐stained cortical sections could detect neuronal architectural disorganization in epilepsy resections, including ...
Andrew Cannon, Roland Tian, Blake Ebner, Robert E. Watson Jr., Brian Burkett, Jamie Van Gompel, Lily C. Wong‐Kisiel, Christopher P. Hartley, Roger K. Moreira, Aditya Raghunathan   +9 more
wiley   +1 more source

Non‐canonical PKG1 regulation in cardiovascular health and disease

British Journal of Pharmacology, EarlyView.
It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source