Results 41 to 50 of about 42,064 (302)

Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review

Oman Medical Journal, 2023
Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect.
Anwar Al Omairi, Amna Al Futaisi
doaj   +1 more source

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Asian Journal of Medical Sciences, 2015
Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
doaj   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

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

Perivascular Epithelioid Cell Tumor (PEComa) of the Uterine Cervix in a Patient with Tuberous Sclerosis Complex: A Literature Review [PDF]

Türk Patoloji Dergisi, 2018
Perivascular epithelioid cell tumors (PEComa) are a rare type of mesenchymal tumor arising from perivascular epithelial cells. These tumor cells are a co-expression of both melanocytic and myogenic antigens, such as HMB 45 and smooth muscle actin, and at
Handan ÇELİK, Mehmet KEFELİ, Mehmet ÇETİNKAYA, Levent YILDIZ   +3 more
doaj   +1 more source

Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis. [PDF]

, 2018
Diffuse cutaneous mastocytosis (DCM) is a rare but potentially fatal condition when diagnosis and targeted treatments are delayed. This case illustrates the life-threatening complications in DCM and reviews the currently available treatments.
Akin, Alvarez-Twose, Bankova, Bodemer, Brockow, Brockow, Caughey, Chan, Edwards, Escribano, Escribano, Flageul, Fried, Galli, Garg, Hannaford, Hartmann, Has, Heide, Huang, Lange, Melo, Murphy, Orkin, Polk, Poterack, Prieto-García, Smith, Tolar, Valent, Wolff, Zhang, Álvarez-Twose   +32 more
core   +1 more source

Presbycusis: Pathology, Signal Pathways, and Therapeutic Strategy

Advanced Science, EarlyView.
In ARHL, the stria vascularis, acting as a cochlear battery, gradually loses its ability to maintain the endocochlear potential, leading to impaired hair cell function and progressive hearing loss. Single‐cell sequencing reveals age‐related cellular changes in the cochlea, providing insights into the underlying mechanisms of aging and potential ...
Xiaoxu Zhao, Tian Shen, Shengda Cao, Ziyi Liu, Wendu Pang, Meixuan Li, Jingjing Liu, Wen Li, Yunhao Wu, Chengcheng Liu, Ming Xia, Xiaolong Fu, Cheng Cheng   +12 more
wiley   +1 more source

Cannabinoids in the treatment of epilepsy: current status and future prospects [PDF]

, 2020
Cannabidiol (CBD) is one of the prominent phytocannabinoids found in Cannabis sativa, differentiating from Δ9-tetrahydrocannabinol (THC) for its non-intoxicating profile and its antianxiety/antipsychotic effects.
Albini M., Cifelli P., Di Bonaventura C., Fanella M., Giallonardo A. T., Morano A., Palma E.   +6 more
core   +1 more source

Inhibition of Phosphodiesterase 10A by MP‐10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome

Advanced Science, EarlyView.
We demonstrate that Foxp1± mice, modeling FOXP1 haploinsufficiency, exhibit behavioral deficits, striatal neuroinflammatory changes including altered microglial complexity and synaptic pruning, and markedly reduced Pde10a expression. Pde10a inhibition starting immediately after birth restores Foxp1± behavior, microglial morphology, and pruning ...
Henning Fröhlich, Jing Wang, Ferdinand Althammer, Tim Schubert, Nina Kluck, Valery Grinevich, Stefanie Schmitteckert, Christian P. Schaaf, Gudrun A. Rappold   +8 more
wiley   +1 more source

The effect of pregnancy on renal angiomyolipoma; a world of knowledge to gain, specifically in women with TSC

BMC Nephrology
Background Women are counseled preconceptionally about the potential risks of rAML progression and chance of complications during and due to pregnancy. However, a systematic search investigating the evidence on which this advice is based does not exist ...
Marlou W. Kluiving, Evelien F. H. I. Peeters, Titia A. Lely, Niek van Oorschot, Wendela L. de Ranitz-Greven   +4 more
doaj   +1 more source