Statin-Induced Myopathy in a Patient with Schwartz-Jampel Syndrome.

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. We report a unique case of a symptomatic adverse event of statin use in a SJS patient who demonstrated heightened levels of CPK to baseline following a statin induced myopathy. Discontinuation of the statin and administration of a PCSK-9 inhibitor revealed a return to baseline CPK. This case challenges the current lipid treatment algorithm as it pertains to SJS patients. Further investigation into treatment is required in this special population.

A First Report of HCTZ and Dicyclomine Induced Uncharacteristic Contraction Alkalosis.

Background: Contraction alkalosis is characterized by low serum sodium and chloride and high serum carbon dioxide and bicarbonate levels. Case Report: 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). Subsequently, (Visit 1), his blood pressure was 130/91 mmHg and he was started on telmisartan (20 mg/day). At Visit 2, 4 weeks later, his blood pressure improved (121/73 mmHg); however, blood chemistry revealed elevated serum CO2 (32 mEq/L) and chloride (94 mmol/L). Four days later, the patient presented to the Emergency Department with dyspnea and swallowing difficulty. The patient returned to his PCP 3 days later complaining of cough, congestion, vomiting, and mild dyspnea, blood pressure of 124/84 mmHg. Two months later, sudden onset of projectile vomiting and abdominal pain while running was reported, resolved by rehydration and a single oral dose of prochlorperazine 25 mg. Three months later, (Visit 3), he complained of lightheadedness and cloudy judgment, suggesting contraction alkalosis. HCTZ was discontinued and telmisartan was increased to 20 mg twice daily. A follow-up blood chemistry panel 2 weeks later revealed serum chloride and CO2 levels within normal limits and blood pressure under 130/80 mmHg. Conclusion: This is the first known report of contraction alkalosis driven by drug-drug interaction between dicyclomine and HCTZ.

Can a monthly exenatide extended release regimen provide a therapeutic and cost benefit?

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. The proposed monthly dose was based on an Excel simulation using pharmacokinetic parameters extracted using Plot Digitizer® (version 2.6.8) from Cirincione et al. (2017), as well as accounting for the exenatide ER formulation characteristics, in vivo and in vitro exenatide stability. A PBPK model of exenatide molecule was developed using (Simcyp® version 19) based on data from in vitro and clinical PK studies. The model was used to confirm the Excel simulation findings of the effectiveness of exenatide ER monthly in maintaining the plasma level above the minimum effective concentration (MEC). Our simulation from Excel and Simcyp® showed that the drug plasma levels of the once monthly ER dose maintained a steady state concentration (Css ) above the MEC. The simulated Excel plasma level ranged from Cmin to Cmax of 60-130ng/L, respectively. The exenatide compound was successfully modeled and used to predict the Css of the ER monthly dose. The Simcyp® simulated Css of the ER was 117 ng/L. A monthly exenatide ER dose provides a plasma level within the therapeutic range. This new proposed dose has a significant pharmacoeconomic benefit and could well improve patient adherence.

Trichotillomania associated with a 25-hydroxy vitamin D deficiency: A case report.

Vitamin 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. Two female patients suffering from trichotillomania defined by noticeable hair loss on the scalp through the Massachusetts General Hospital Hair Pulling Scale were treated to promote hair growth. Treatment included dietary supplementation with vitamin D3 1000 IU every day. It was found that in both patients treated with vitamin D3, marked improvements occurred over the span of 3 to 4 months. These included a reduction in obsessive compulsive disorder related hair loss as measured using the Massachusetts General Hospital Hair Pulling Scale, which correlated to their serum 25-hydroxyvitamin D levels. Experimental and clinical evidence is available to explain the underlying physiology and its probable relationship to trichotillomania's pathophysiology.

Is percutaneous proximal gracilis tenotomy as effective and safe as the open procedure?

PURPOSE: 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). A pediatric orthopedic surgeon conducted a percutaneous adductor longus and gracilis tenotomy through the same stab wound. Another surgeon extended the wound to explore what had been cut during the PPGT, and completed the tenotomy if necessary (open proximal gracilis tenotomy; OPGT). Hip abduction with the hip and knee extended (HA) was assessed by a third surgeon (1) immediately before PPGT, i.e., directly after percutaneous adductor longus tenotomy (prePPGT), (2) after PPGT (postPPGT), and (3) following OPGT (postOPGT), using a goniometer, in a standardized reproducible manner. All three surgeons were blinded to each other's findings. Primary end-points included the percentage of muscle portion sectioned percutaneously and the improvement of HA angle. Comparison between HA before and after PPGT was performed using a paired t test with 95 % confidence interval (CI), and comparison between HA after PPGT and OPGT was performed using a Student's t-test with 95 % CI. The bleeding was assessed and other iatrogenic lesions were identified. The relationship between HA after PPGT and the percentage of muscle portion sectioned percutaneously was evaluated by calculating the Pearson correlation coefficient (p < 0.01). RESULTS: Mean HA measured 33.71 degrees prePPGT and increased to 45.90 degrees postPPGT (p < 0.0001). The postOPGT HA averaged 48.71 degrees with no statistically significant gain compared with postPPGT (p = 0.21). The muscular portion of gracilis origin was cut to an average of 91.95 %; completely in only 14 hips, between 90 and 100 % in 35 hips, between 70 and 90 % in 9 hips, and between 60 and 70 % in 1 hip. The gain in HA did not correlate with the extent of the muscular portion sectioned percutaneously (R = -0.043). Minimal accidental section of adductor brevis postPPGT was encountered in 39 hips. Considerable bleeding postPPGT with hematoma formation requiring hemostasis during the open control procedure occurred in 30 hips. Partial iatrogenic injury of the anterior branch of the obturator nerve was encountered in one patient bilaterally with severe adductor contracture, due to an anatomic too medial variant. CONCLUSIONS: This is the only prospective study concerning the outcome of PPGT. Although PPGT is fast, simple and effective, it is not as safe as the open procedure even when performed correctly by an experienced surgeon, mainly because of the increased risk of bleeding. The findings of the current study do not support its use as a 'standard-of-care' technique in children with hip adductor contracture. LEVEL OF EVIDENCE: Level II therapeutic study-prospective comparative study.

Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

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. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

Effects of oral Aloe vera on electrocardiographic and blood pressure measurements.

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. The primary endpoint was the maximum posttreatment Q-Tc interval over eight hours in both groups. RESULTS: Sixteen participants were enrolled in the study, with a mean ± S.D. age of 25 ± 5 years. No significant differences in electrocardiographic or blood pressure measurements were observed. The maximum Q-Tc interval was 419 ± 17 milliseconds in the placebo group and 422 ± 17 milliseconds in the aloe-treated group. The maximum P-R intervals in the placebo- and aloe-treated groups were 166 ± 22 and 169 ± 25 milliseconds, respectively. The maximum QRS complex duration did not significantly differ between the placebo- and aloe-treated groups (89.4 ± 9 and 89.3 ± 9 milliseconds, respectively). The maximum systolic blood pressures in the placebo- and aloe-treated groups were 120 ± 16 and 120 ± 14 milliseconds, respectively. The maximum diastolic blood pressures in the placebo- and aloe-treated groups were 74 ± 10 and 75 ± 9 milliseconds, respectively. CONCLUSION: A single dose of oral aloe vera had no effect on electrocardiographic or blood pressure measurements in young healthy volunteers.