The onset of symptoms is typically acute and consists of severe abdominal pain that is disproportionate to the findings on physical examination [56].
Treatment for MSUD typically consists of severe dietary restriction of BCAAs (Strauss et al., 2010).
Hematological toxicity consists of severe thrombocytopenia in a third of patients and severe anemia in 16% of patients.
Co-deletion of the nearby LIS1 and YWHAE genes underlies Miller Dieker syndrome (8– 10), which consists of severe classic LIS and characteristic facial dysmorphism.
Likewise, the NHEJ1 syndrome (OMIM #611291), caused by mutation in XLF, consists of severe combined immunodeficiency (SCID), microcephaly, growth retardation, and sensitivity to IR.
Its clinical features consist of severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids and supernumerary nipples [ 14, 15].
It is important to realize that this population consisted of severe cases that might have worsened the long-term outcome, and the results cannot immediately be generalized to out-patients.
Macroscopical changes consisted of severe peritonitis and foci of hepatic necrosis with large cavities replacing most of the normal tissue.
To describe a newly recognized clinical syndrome in Acanthamoeba keratitis consisting of severe reactive ischemic posterior segment vascular inflammation.
Extensive mucositis occurred in all of the untreated animals, and consisted of severe damage to cheek pouch tissues (epithelium, underlying connective tissue, and muscle bundles).
All the worms were found dead 72 h post-treatment and showed advanced level of tegumental disruptions, consisting of severe distortion of spines, sloughing off the tegument to expose the basal lamina, formation of pores and isolated patches of lesions.
