A benign congenital myopathy in an inbred Samaritan family.

We describe a novel form of myopathy in a mother and her two daughters from an inbred Samaritan family. The patients displayed severe neonatal hypotonia, lethargy and dysmorphic features. Motor milestones were delayed; however, the hypotonia and muscle weakness gradually improved during the first 2 years of life and independent walking was achieved by 18 months. The mother at the age of 23 years shows myopathic facies and minimal proximal weakness. Her intelligence is normal. Her muscle biopsy revealed central nuclei and disruption of the intermyofibrillary network with moth eaten and spiral fibers. Mutations in SMN, MTM1 and the myotonic dystrophy genes were excluded. We suggest this is a new benign form of congenital myopathy. Inheritance is probably autosomal recessive.     

N064A (Alliance): Phase II Study of Panitumumab,Chemotherapy, and External Beam Radiation in Patients with Locally Advanced Pancreatic Adenocarcinoma

BackgroundThis North Central Cancer Treatment Group (NCCTG) N064A (Alliance) phase II trial evaluated upfront chemoradiotherapy incorporating the EGFR inhibitor panitumumab, followed by gemcitabine and panitumumab for unresectable, non-metastatic pancreatic cancer.MethodsThe treatment consisted of fluoropyrimidine and panitumumab given concurrently with radiotherapy followed by gemcitabine and panitumumab for 3 cycles followed by maintenance panitumumab. The primary endpoint was the 12-month overall survival (OS) rate and secondary endpoints included confirmed response rate (RR), OS, progression-free survival (PFS), and adverse events. Enrollment of 50 patients was planned and the study fully accrued.ResultsFifty-two patients were enrolled, but only 51 were treated and included in the analysis. The median age of patients was 65 years and 54.9% were women. Twenty-two patients received at least 1 cycle of systemic therapy following radiotherapy, but 29 patients received chemoradiotherapy only without receiving subsequent chemotherapy after completion of chemoradiotherapy. The overall RR was 5.9% (95% CI: 1.2%-16.2%). The 12-month OS rate was 50% (95% CI: 38%-67%) which fell short of the per-protocol goal for success (51.1%). The median PFS was 7.4 months (95% CI: 4.5-8.6) and the median OS was 12.1 months (95% CI 7.9-15.9). Grade 3 or higher adverse events were reported by 88%.ConclusionThe combination of panitumumab, chemotherapy, and external beam radiation therapy was associated with very high rates of grades 3-4 toxicities and survival results did not meet the trial’s goal for success. This regimen is not recommended for further study (ClinicalTrials.gov Identifier {"type":"clinical-trial","attrs":{"text":"NCT00601627","term_id":"NCT00601627"}}NCT00601627).     

Pregnancy and arterial compliance

OBJECTIVE: To examine the hypothesis that pregnancy is associated with vascular remodeling, leading to an increased vascular compliance that can be observed in subsequent pregnancies. STUDY DESIGN: Chart review of41 multiparous deliveries at our institution from a 2-month period in 2004. Charts examined were from patients with uncomplicated, singleton pregnancies who were nulliparous during their prior delivery. Patients with blood pressure recordings in all 3 trimesters during both pregnancies were included. The mean arterial pressure (MAP) in the index and prior pregnancy was compared. RESULTS: There were no significant MAP differences noted, other than in the late third trimester (MAP, 85.05 vs. 80.15, p < 0.001). When we plotted the difference in >34 weeks MAP against the time between pregnancies, we did not see any statistically significant correlation (Pearson Correlation -0.147, p = 0.35). We examined the mean pulse pressure at >34 weeks. We found no statistically significant differences between the first and second pregnancies (mean pulse pressure, 42.27 vs. 43.55, p = 0.5). CONCLUSION: Our data does not support the hypothesis that pregnancy is associated with vascular remodeling, leading to an increased vascular compliance that can be observed in subsequent pregnancies. This could be due to demographic differences between our population and previously studied populations.