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Objective To determine the spectrum of presentation, including both clinical and biochemical abnormalities, and the clinical course in a cohort of patients with complete mitochondrial trifunctional protein (MTP) deficiency, a rare inborn error of mitochondrial fatty acid oxidation.
In the largest international multicenter cohort of CVT including 624 patients (ISCVT) with large spectrum of presentation, Ferro et al. showed a mortality rate of 4.3%% at the acute phase and 8.3 % at the last follow-up (16 months) [3].
These data confirm that pneumonia is the most common SBI in HIV-infected children, but with a wide spectrum of presentation.
The spectrum of presentation of intracranial hypotension is clinically perplexing.
The myelodysplastic syndromes (MDS) represent myeloid clonal hemopathies, with a relatively heterogeneous spectrum of presentation.
The wide spectrum of presentation of monogenic AD leads often to late diagnosis or missidentification of cases.
Similar(52)
The spectrum of presentations of AL amyloidosis is diverse, and the presenting symptoms can be very broad and are often mimicked by more common disorders [ 8].
There is a spectrum of presentations of skeletal manifestations of malignancy that includes generalized osteopenia and hypercalcemia, focal osteolysis, focal osteogenesis, and osteomalacia and hypophosphatemia.
Because of the financial difficulties many patients have in paying for formal imaging, our department routinely uses bedside ultrasound for a wide spectrum of presentations.
In addition to haemorrhagic complications, a syndrome of perivascular inflammation and oedema has been recognised in the spectrum of presentations associated with CAA [29].
However, while the identification of high-risk patients requires the routine assessment of individual risk, no method of doing so has been demonstrated to be practical and reliable across the commonly encountered spectrum of presentations, co-morbidities and operative procedures.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com