Natural variation in clock parameters is necessary for the circadian clock to contribute to organismal fitness over a broad geographic range. Considerable variation is evident in the period, phase, and amplitude of 150 Arabidopsis accessions, and the period length is correlated with the day length at the latitude of origin, implying the adaptive significance of correctly regulated circadian timing. Quantitative trait loci analysis of recombinant inbred lines indicates that multiple loci interact to determine period, phase, and amplitude. The loss-of-function analysis of each member of the ARABIDOPSIS PSEUDO-RESPONSE REGULATOR family suggests that they are candidates for clock quantitative trait loci.
Patient: Male, 16Final Diagnosis: Effort thrombosis (Paget-Schroetter Sydnrome)Symptoms: Swollen armsMedication: —Clinical Procedure: —Specialty: Metabolic Disorders and DiabeticsObjective:Rare diseaseBackground:Thrombotic events in otherwise healthy pediatric patients are rare. In patients presenting with limb swelling, thrombosis must be considered in the differential diagnosis. In pediatric patients with thrombosis, there has been wide variability in the rates of associated thrombophilia. Many pediatric patients may instead have other contributors such as venous catheters or physical activity.Case Report:We present a case of bilateral upper extremity deep venous thrombi in a previously healthy 16-year-old male. The patient presented with swelling and pain in both arms after several days of weight-bearing exercise. Following emergency department evaluation with ultrasound and laboratory testing, the patient was diagnosed with effort thrombosis – also known as Paget-Schroetter syndrome – and rhabdomyolysis.Conclusions:This case of Paget-Schroetter syndrome is distinguished by elevation in creatine kinase and transaminases. While these findings can be due to physical exertion and effort, effort thrombosis is not classically associated with laboratory abnormalities except an elevated D-dimer. The significance of these laboratory test result abnormalities remains unclear. Given the rarity of effort thrombosis, further epidemiological study is warranted to determine if these laboratory findings are seen in other cases, and, if so, what implications they may have for management and prognosis.
IntroductionTraditionally, patients with suspected ruptured abdominal aortic aneurysm (rAAA) are taken immediately for operative repair. Computed tomography (CT) has been considered contraindicated. However, with the emergence of endovascular repair, this approach to suspected rAAA could be changing.MethodsWe present retrospective data in a case series of 110 patients with rAAA. Patients were managed at a single tertiary medical center over a five-year period. At this site, there was an established multidisciplinary protocol in which patients with suspected rAAA undergo CT with consideration for endovascular aortic repair (EVAR).ResultsOur results demonstrated a mortality of 30% with our institutional protocol for CT in suspected rAAA. Comparing patients who ultimately had EVAR with open repair, those able to have endovascular aneurysm repair (EVAR) had lower mortality, shorter hospital stays for survivors, and a greater likelihood of being discharged to home than those with open repair. While survivors were more likely to have had EVAR, surviving patients were younger, had a significantly lower creatinine at presentation, and required fewer blood transfusions than those who died.ConclusionBased on this case series, an institutional approach endorsing CT for presumed rAAA appears to be reasonable. Our results suggest that EVAR may be beneficial in appropriately-selected patients and that CT may potentially facilitate superior management options for patient care.
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