Publications by authors named "Jigar R Desai"

Introduction: The study aims at providing an overview of morphometric measurements of the skull baselines in normal Indian population and compares these dimensions with those of other races and ethnicities. This study will help in defining "normal" baseline values for Indian population. It will also compare dimensions as measured on X-ray and computed tomography (CT) scan to assess the reliability of X-ray as a diagnostic modality for the assessment of the skull baselines in Indian population.

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Introduction: Poland Syndrome(PS) is a rare congenital condition associated with the absence of unilateral chest wall muscles and sometimes ipsilateral symbrachydactyly (abnormally short and webbed fingers). The condition typically presents with unilateral absence of the sternal portion of the pectoralis major muscle which may or may not be associated with a hypoplasia of the breast, an ipsilateral webbing of the fingers (cutaneous syndactyly) and agenesis of 2, 3, 4, and 5 ipsilateral costal cartilages, and athelia.

Case Report: We report a 13-year-old patient with an atypical variant of PS without any limb anomalies.

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Background: Opportunities to leverage observational data for precision medicine research are hampered by underlying sources of bias and paucity of methods to handle resulting uncertainty. We outline an approach to account for bias in identifying comorbid associations between 2 rare genetic disorders and type 2 diabetes (T2D) by applying a positive and negative control disease paradigm.

Research Design: Association between 10 common and 2 rare genetic disorders [Hereditary Fructose Intolerance (HFI) and α-1 antitrypsin deficiency] and T2D was compared with the association between T2D and 7 negative control diseases with no established relationship with T2D in 4 observational databases.

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Background: Ethical concerns about randomly assigning patients to suboptimal or placebo arms and the paucity of willing participants for randomization into control and experimental groups have renewed focus on the use of historical controls in clinical trials. Although databases of historical controls have been advocated, no published reports have described the technical and informatics issues involved in their creation.

Objective: To create a historical controls database by leveraging internal clinical trial data at Pfizer, focusing on patients who received only placebo in randomized controlled trials.

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