Publications by authors named "I Sahai"
Mucopolysaccharidosis type I (MPS I), a lysosomal disorder caused by variants in IDUA, was added to the Recommended Uniform Screening Panel for newborn screening in 2016. Positive screening results for MPS I are commonly due to variants known as "pseudodeficiency alleles," which decrease in vitro alpha-L-iduronidase enzyme activity but are thought to provide sufficient in vivo activity. Despite the historic assumption that these variants are biologically benign, the possibility that they could give rise to complex, multigenic, or attenuated phenotypes has not been systemically evaluated in adults.
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- * Patients with this condition can survive into their 40s but face several medical challenges, and it may be linked to syndromes like DiGeorge syndrome.
- * A case study details a 41-year-old man with a history of tuberculosis who, despite being asymptomatic before, required surgery due to the rare combination of cardiac anomalies, including a right-sided aortic arch and aplastic left subclavian artery.
Article Synopsis
- * The case study discusses an infant with recurrent infections, diagnosed with TOF, highlighting additional cardiac issues like ventricular septal defects and pulmonary stenosis found during echocardiography.
- * The condition is associated with DiGeorge syndrome and poses unique surgical management challenges due to its complex embryological origins and multiple cardiac anomalies.
Article Synopsis
- Cholinergic urticaria (CholU) is a rare skin condition that causes itchy hives triggered by sweating from activities like exercise, typically lasting 15-20 minutes.
- A 42-year-old male experienced unusual symptoms of syncope (fainting) alongside CholU, leading to a comprehensive evaluation to rule out other medical causes.
- His diagnosis was supported by increased IgE antibody levels, and treatment included nonsedating antihistamines along with health education about CholU.