clinicaltrials.gov Identifier: NCT01829581.

Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ).

OBJECTIVE This and its companion article address the 10 most frequently asked questions that radiologists face when planning, performing, processing, and interpreting different MR perfusion studies in CNS imaging. CONCLUSION Perfusion MRI is a promising tool in assessing stroke, brain tumors, and patients with neurodegenerative diseases. Most of the impediments that have limited the use of perfusion MRI can be overcome to allow integration of these methods into modern neuroimaging protocols.

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In contrast to blood pressure control, PCC administration was not associated with a reduced rate of hematoma enlargement in NOAC-related ICH. Our findings support the need of further investigations exploring new hemostatic reversal strategies for patients with factor Xa inhibitor-related ICH. Ann Neurol 2018;83:186-196.

Background and Purpose-The prognosis of spontaneous intracerebral hemorrhage (sICH) is poor because of the mass effect arising from the hematoma and the associated peri-hemorrhagic edema, leading to increased intracranial pressure. Because the efficacy of surgical and anti-edematous treatment strategies is limited, we investigated the effects of mild induced hypothermia in patients with large sICH. Methods-Twelve patients with supratentorial sICH Ͼ25 mL were treated by hypothermia of 35°C for 10 days. Evolution of hematoma volume and perifocal edema was measured by cranial CT. Functional outcome was assessed after 90 days. These patients were compared to patients (nϭ25; inclusion criteria: sICH volume Ͼ25 mL, no acute restriction of medical therapy on admission) from the local hemorrhage data bank (nϭ312). Side effects of hypothermia were analyzed. Results-All patients from both groups needed mechanical ventilation and were treated in a neurocritical care unit. All hypothermic patients (mean age, 60Ϯ10 years) survived until day 90, whereas 7 patients died in the control group (mean age, 67Ϯ7 years). Absolute hematoma size on admission was 58Ϯ29 mL (hypothermia) compared to 57Ϯ31 mL (control). In the hypothermia group, edema volume remained stable during 14 days (day 1, 53Ϯ43 mL; day 14, 57Ϯ45 mL), whereas edema significantly increased in the control group from 40Ϯ28 mL (day 1) to 88Ϯ47 mL (day 14). ICH continuously dissolved in both groups. Pneumonia rate was 100% in the hypothermia group and 76% in controls (Pϭ0.08). No significant side effects of hypothermia were observed. Conclusions-Hypothermia prevented the increase of peri-hemorrhagic edema in patients with large sICH. (Stroke. 2010; 41:1684-1689.)

Further studies are needed so that better selection criteria can be developed for individually tailored treatment.