16 research outputs found
Modeling Supply Networks and Business Cycles as Unstable Transport Phenomena
Physical concepts developed to describe instabilities in traffic flows can be
generalized in a way that allows one to understand the well-known instability
of supply chains (the so-called ``bullwhip effect''). That is, small variations
in the consumption rate can cause large variations in the production rate of
companies generating the requested product. Interestingly, the resulting
oscillations have characteristic frequencies which are considerably lower than
the variations in the consumption rate. This suggests that instabilities of
supply chains may be the reason for the existence of business cycles. At the
same time, we establish some link to queuing theory and between micro- and
macroeconomics.Comment: For related work see http://www.helbing.or
Diagnosis of Endometrial-Factor Infertility: Current Approaches and New Avenues for Research
Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability – Further Delineation of the Phenotype and Expression Studies
Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1