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The primary abnormalities of BAOS are stenotic nares and an overlong soft palate.
These differences could result from primary abnormalities of growth of facial and skull structures, as well as secondary influences of the cleft itself [ 9].
Exclusion criteria included age <18 years, primary abnormalities of coagulation, fibrinolytic therapy, immunosuppression due to medication or disease and patients on hemodialysis.
Indeed, reports are beginning to surface of severe congenital cardiomyopathies attributed to primary abnormalities of mitochondrial respiratory chain function (Dhar et al, 2013; Garcia-Diaz et al, 2013).
In a recent elegant study, Gerber and colleagues have shown that primary abnormalities of the extracellular matrix can lead to inflammation and scleroderma-like autoimmunity [ 18].
These primary abnormalities of PD monocytes suggest that monocytes from PD patients also behave functionally different, supported by an impaired phagocytic function of PD monocytes (this study and [ 23]).
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A major question currently debated is whether psoriasis is a primary abnormality of the epidermal keratinocyte or a reflection of dysregulated bone marrow-derived immunocytes.
It should be noted, however, that Potter syndrome may also be the result of obstruction of urinary excretion caused by a primary abnormality of the lower urinary tract [3].
The diversity of the pathological processes involved make it unlikely that there is a primary abnormality of brain iron metabolism common to these diseases, although this is the case with a group of rare genetic disorders characterized by neurodegeneration with brain iron accumulation (NBIA), [ 61].
We conclude that there is no evidence that a primary abnormality of these genes plays a role in thyroid follicular cell tumorigenesis and suggest that the observed changes in expression can be adequately explained as secondary consequences of the tumour phenotype.
These synapses could be the site of primary abnormalities that disrupt downstream neural circuits; however, this remains to be demonstrated.
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