Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215]

2006 ◽  
Vol 140A (12) ◽  
pp. 1356-1356 ◽  
Author(s):  
Judith G. Hall
Keyword(s):  
Vascular Anomalies ◽  
Clinical Report ◽  
Type Ii ◽  
Primordial Dwarfism ◽  
Cerebral Vascular

scholarly journals Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies

2016 ◽  
Vol 18 (6) ◽  
pp. 717-723 ◽  
Author(s):  
Mario Teo ◽  
Jeremiah N. Johnson ◽  
Teresa E. Bell-Stephens ◽  
Michael P. Marks ◽  
Huy M. Do ◽  
...  
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Genetic Disorder ◽  
Vascular Anomalies ◽  
Type Ii ◽  
Long Term Outcomes ◽  
Aneurysm Clipping ◽  
Primordial Dwarfism ◽  
The Mean

OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly. METHODS In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes. RESULTS Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1–17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9–18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3–10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline. CONCLUSIONS Patients with MMD presented at a younger age than those in whom aneurysms were more prevalent. Microneurosurgery with either intracranial bypass or aneurysm clipping is extremely challenging but feasible at expert centers in patients with MOPD II, and good long-term outcomes are possible.

Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

2021 ◽  
Vol 43 (2) ◽  
pp. 115-121
Author(s):  
Thu Hien Nguyen ◽  
Ngoc-Lan Nguyen ◽  
Chi Dung Vu ◽  
Can Thi Bich Ngoc ◽  
Ngoc Khanh Nguyen ◽  
...  
Keyword(s):  
Type Ii ◽  
Novel Mutations ◽  
Primordial Dwarfism

A new case of the osteodysplastic primordial dwarfism type II

1987 ◽  
Vol 26 (4) ◽  
pp. 819-824 ◽  
Author(s):  
Patrick J. Willems ◽  
Catrienus Rouwé ◽  
G. Peter A. Smit ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Type Ii ◽  
Primordial Dwarfism

Abstract P243: A New Type 2 Diabetic Rat Model That is Associated with Cognitive Impairment in Aging

Hypertension ◽  
2016 ◽  
Vol 68 (suppl_1) ◽  
Author(s):  
Wenshan Lv ◽  
Hongwei Yu ◽  
Longyang Li ◽  
Christine Taylor ◽  
Ezekiel Gonzalez-Fernandez ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Rat Model ◽  
Amyloid Β ◽  
Diabetic Rat ◽  
Type Ii ◽  
Sd Rats ◽  
Increased Risk ◽  
New Type ◽  
Diabetic Rat Model ◽  
Cerebral Vascular

Alzheimer’s disease (AD) is an incurable neurodegenerative disease and the most common form of dementia, and AD and type II diabetes (DM II) are two of the most common diseases of aging. Numerous studies demonstrate DM II with increased risk for dementia, however, the mechanisms linking DM II and AD have not been fully elucidated. There is increasing evidence suggesting that cerebral vascular dysfunction plays an important role in the development of AD. T2DN rat is a DM II rat model that exhibits diabetic nephropathy. The present study examines whether aged T2DN rat is associated with cognitive impairment, and whether autoregulation of cerebral blood flow (CBF) is impaired that contributes to AD. The levels of glucose (422 ± 32 vs. 94 ± 3 mg/dL) and glycated hemoglobin (HbA 1c , 11.5 ± 0.2 vs. 4.3 ± 0.1%) were higher in 12-18 months old T2DN than in age matched SD control rats. CBF rose by 137 ± 15% and 36 ± 5%, respectively, in T2DN and SD rats when MAP was increased from 100 to 180 mmHg. Aged T2DN rats exhibited BBB leakage and “AD” like cerebral vascular remodeling. The expression of Amyloid β 42 (Aβ 4 2 ), p-tau (S416), GFAP and IL-1 beta were significantly higher in the brains of T2DN vs. SD rats. T2DN rats also exhibited learning and memory dysfunction as the short term (2-hour; T2DN 96 ± 12 vs. SD 13 ± 3 seconds) and long term (24-hour; T2DN 105 ± 15 vs. SD 8 ± 2 seconds) latency of escape were longer in an eight-arm water maze test, and spent less time in the target arm 48 hours after training (T2DN 3.4 ± 2.6 vs. SD 45.0 ± 1.7%). These findings indicate that T2DN is a new type II diabetic rat model. Elderly T2DN rat is associated with an impaired autoregulation of CBF, glial activation and inflammation which may contribute to the development of cognitive impairment and AD.

Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies

2017 ◽  
Vol 264 (10) ◽  
pp. 2110-2118 ◽  
Author(s):  
A. Pichiecchio ◽  
S. Sacco ◽  
P. De Filippi ◽  
E. Caverzasi ◽  
S. Ravaglia ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Vascular Anomalies ◽  
Cerebral Vascular
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