Schwartz Jampel syndrome (SJS) is a genetic disorder characterized by myotonia and chondrodysplasia. Mutations of the Perlecan gene (HSPG2), which encodes a key component of the extracellular matrix of muscle, bone, and cartilage is cause for the characteristic dysmorphisms of SJS. Clinically remarkable creatinine phosphokinase (CPK) levels are typical and can be associated with myotonia as an underlying cause in SJS patients.
View Article and Find Full Text PDFContraction alkalosis is characterized by low serum sodium and chloride and high serum carbon dioxide and bicarbonate levels. A 28-year-old Caucasian active-duty male with a history of autosomal dominant polycystic kidney disease and diarrhea-predominant Irritable Bowel Syndrome (D-IBS) presented to his primary care provider (PCP) with elevated blood pressure (136/96 mmHg), was diagnosed with stage-2 hypertension, and started oral HCTZ (25 mg/day). His medications included dicyclomine (10 mg oral three times daily).
View Article and Find Full Text PDFBiopharm Drug Dispos
June 2021
Exenatide is used to treat type 2 diabetes mellitus. The current regimen is a 2 mg extended release (ER) weekly injection. The aim of our study was to prove the efficacy of exenatide ER if administered once-monthly.
View Article and Find Full Text PDFVitamin D deficiency has been correlated with non-scarring alopecia including alopecia areata or female pattern hair loss. It was theorized that hair loss secondary to vitamin D deficiency in patients susceptible to trichotillomania may exacerbate this obsessive-compulsive disorder. Though vitamin D deficiency is common, especially among patients suffering from neuropsychiatric disorders, its correlation with trichotillomania is not well reported.
View Article and Find Full Text PDFPurpose: There is currently an increasing trend for percutaneous surgical interventions mainly in children with cerebral palsy (CP). The purpose of this study was to evaluate the effectiveness and safety of percutaneous proximal gracilis tenotomy (PPGT) in children with CP scheduled for hip adductor tenotomy.
Methods: This is a prospective study of 59 hips in 31 consecutive patients with CP scheduled for hip adductor tenotomy in the setting of multilevel tenotomies or hip osteotomy (femoral or Dega).
Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple.
View Article and Find Full Text PDFAm J Health Syst Pharm
November 2010
Purpose: The effects of oral aloe vera on electrocardiographic and blood pressure measurements were evaluated.
Methods: In this double-blind, placebo-controlled, crossover study, healthy volunteers over age 18 years received either 1200 mg of oral aloe vera powder or matching placebo on day 1 of the study and the treatment not received during the first phase on day 8. In each phase, electrocardiographic variables, systolic blood pressure, and diastolic blood pressure were evaluated at baseline and one, three, five, and eight hours after treatment.