Publications by authors named "Kaushal V Solanki"
Article Synopsis
- This study examines autosomal dominant Alport Syndrome (ADAS), a genetic disorder affecting 1 in 106 people, and its varied symptoms and severity.
- Researchers analyzed data from over 174,000 individuals to identify 403 who had likely harmful gene variants, finding that those with these variants had higher risks of kidney-related issues but not hearing loss.
- The findings stress the importance of genotype in predicting disease severity and highlight a need for better screening and treatment options for affected individuals.
Article Synopsis
- A study analyzed data from 174,418 participants to investigate the phenotypic spectrum of autosomal dominant Alport Syndrome (AS), focusing on 403 individuals identified as heterozygous for likely pathogenic variants.
- The analysis revealed that heterozygous individuals were significantly more likely to experience kidney-related issues such as hematuria, decreased kidney function, and end-stage kidney disease, but not hearing loss.
- Patients with specific genetic mutations (glycine missense variants) had higher risks for these conditions, yet many patients lacked appropriate screening and treatment, indicating a need for more research on early diagnosis and management of AS.
Clarifying the Cause and Treatment of Paroxysmal Hypertension (Pseudopheochromocytoma).
Curr Hypertens Rep
September 2022
Purpose Of Review: To review the clinical characteristics of paroxysmal hypertension (pseudopheochromocytoma), its previously unsuspected cause, and effective treatment approaches.
Recent Findings: Patients with paroxysmal hypertension experience recurrent, sudden, unprovoked, symptomatic, and severe elevations of blood pressure that occur independently of current stress or perceived emotional distress. Recent findings point to a previously unsuspected psychosomatic etiology, linked in most to a past history of abuse, trauma, or prolonged severe stress, often with repression of pertinent emotions, or to a repressive coping style.