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HELLP is considered a severe variant of preeclampsia and manifests as a syndrome of hemolysis, elevated liver enzymes, and low platelet count [41].
Acute respiratory distress syndrome (ARDS), a severe variant of ALI, was originally described in 1967 by Ashbaugh et al. as the acute onset of tachypnea, hypoxemia, and poor pulmonary compliance resistant to traditional medical therapies.
The vulvovaginal gingival syndrome is an uncommon and severe variant of lichen planus characterized by erosions or desquamation of vulval, vaginal, and gingival mucosae with a predilection for scarring and stricture formation.
Emphysematous cholecystitis is a severe variant of acute cholecystitis caused by anaerobic bacteria.
69 HH syndrome (OMIM 300240) represents a severe variant of dyskeratosis congenita (DC).
HELLP is considered a severe variant of preeclampsia and manifests as a syndrome of hemolysis, elevated liver enzymes, and low platelet count [ 41].
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Severe variants of CSC may also present in cases of uncomplicated pregnancy and result in a poor prognosis.
The present case shows that, although rare, severe variants of CSC may present in cases of uncomplicated pregnancy and result in a poor prognosis.
The 49-item CSBQ is an instrument able to measure less severe variants of ASD symptomatology and ASD related problems (such as problems in executive functioning and disruptive behavior), whereas the SCQ is designed to measure the more severe ASD characteristics.
PolyPhen-2 software analysis used to predict the impact of the protein sequence variant p.K346T (13) suggested that p.K346T was a highly damaging mutation with a score of 0.918 (range: 0.1 low–1 high probability of severe variant).
Clinically, all the patients with DC presenting with a TINF2 mutation have severe disease, including some with features of the severe variant HH and the rare RS (Table 2).
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