Results 151 to 160 of about 358,265 (351)

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

Saccular abdominal aortic aneurysm in adolescence with tuberous sclerosis

Clinical Case Reports
Key clinical message Abdominal aortic aneurysm complicated by tuberous sclerosis is rare, particularly in patients over the age of 10. It is important to screen for abdominal aortic aneurysm in adolescents diagnosed with tuberous sclerosis regularly ...
Takumi Umibe, Hironobu Nishiori, Shintaro Koizumi, Hiroki Ikeuchi, Goro Matsumiya   +4 more
doaj   +1 more source

Cardiovascular considerations in tuberous sclerosis

Pediatria i Medycyna Rodzinna, 2017
Tuberous sclerosis complex is a genetic condition with an autosomal dominant pattern of inheritance, with an incidence of approximately 1:10,000, and 1:6,800 in the paediatric population, caused by a mutation of either of two genes: TSC1 on chromosome ...
Joanna Kohut, Bogusław Mazurek, Jacek Pająk, Lesław Szydłowski, Aleksandra Morka   +4 more
doaj   +1 more source

Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations

, 2022
Wenda Wang, Zhao Yang, Xu Wang, Zhan Wang, Yi Cai, Hanzhong Li, Yushi Zhang   +6 more
openalex   +1 more source

The role of neurosurgery in the management of tuberous sclerosis complex–associated epilepsy: a systematic review [PDF]

, 2022
Jeffrey Z. Nie, Constantine L. Karras, S. Joy Trybula, Pavlos Texakalidis, Tord D. Alden   +4 more
openalex   +1 more source

Treatment of pediatric epilepsy

Pediatric Investigation, EarlyView.
Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li, Tinghong Liu, Chang Liu, Jie Deng, Shijie Wu, Suhui Kuang, Xiaotong Li, Zhirong Wei, Shuli Liang   +8 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

Tuberous Sclerosis with Polycystic Kidneys [PDF]

, 1969
J E Cree, F W Nash
openalex   +1 more source

Evaluating the Long-Term Outcome of the Ablative Lasers in the Treatment of Facial Angiofibromas in Tuberous Sclerosis: A TwoYear Follow-Up Study

, 2021
Liu Y
openalex   +1 more source

mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex Is Associated with Specific Changes in microRNA Serum Profile [PDF]

, 2022
Bartłomiej Pawlik, Urszula Smyczyńska, Szymon Grabia, Wojciech Fendler, Izabela Dróźdż, Katarzyna Bąbol‐Pokora, Katarzyna Kotulska, Sergiusz Jóźwiak, Julita Borkowska, Wojciech Młynarski, Joanna Trelińska   +10 more
openalex   +1 more source