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Power T.E.,Calgary Breast Health Program | Power T.E.,Womens Health Resources Center | Robinson J.W.,Tom Baker Cancer Center | Robinson J.W.,University of Calgary | And 4 more authors.
Journal of Genetic Counseling | Year: 2011

In order to assess the levels of distress and psychosocial support needs of a high risk population, we undertook a study to look at both the objective and subjective levels of distress and the wants and needs of individuals from a high familial cancer risk population. Three hundred and eighteen individuals (160 affected, 158 unaffected) completed several distress and psychosocial needs questionnaires (including the Brief Symptom Inventory-18). Sixty key informants were also surveyed about their perspective on the support needs of this population. In the largely female (90%), largely HBOC syndrome group (approximately 90%), 20% had significant levels of generalized distress, with no significant differences between affected and unaffected individuals. Generalized distress was also not significantly different as a function of mutation status. Individuals who received inconclusive test results, however, were more likely to indicate somatic symptoms of distress. Those individuals who did not have social support were more likely to be those who had never had cancer and who either had a mutation, received inconclusive test results, or were not tested. Key informants were most likely to indicate that patients need more support. These results provide evidence for the importance of establishing regular psychosocial distress screening, including a focus on somatic symptoms, in such high risk populations. © 2011 National Society of Genetic Counselors, Inc.

Minonzio G.,Swiss Stem Cell Foundation | Corazza M.,Swiss Stem Cell Foundation | Mariotta L.,Swiss Stem Cell Foundation | Gola M.,Molecular Diagnostic Laboratory | And 2 more authors.
Cryobiology | Year: 2014

In recent years, there has been a shift toward tissue-engineering strategies using stem cells for plastic and reconstructive surgical procedures. Therefore, it is important to develop safe and reproducible protocols for the extraction of adipose-derived stromal cells (ASCs) to allow cells to be stored in liquid nitrogen for future needs. The aspirated liposuction obtained from healthy donors were immediately processed after the suction using a protocol developed in our laboratory. The resulting stromal vascular fraction (SVF) was then characterized by the presence of adipose-derived stromal cells, at later stage frozen in liquid nitrogen. After that, cells were thawed and again characterized by adipose-derived stromal cells, cellular survival, differentiation ability and Colony Forming Unit-Fibroblast like colonies (CFU-F). Extraction and freezing of cells contained in the stromal vascular fraction demonstrate that thawed cells maintain the full capability to grow and differentiate in culture. The advent of adipose-derived stromal cells use in tissue engineering will assume a wide role in esthetic restoration in plastic surgery. It is thus important to develop clinically translatable protocols for the preparation and storage of adipose-derived stromal cells. Our results show that adipose-derived stromal cells in serum free can easily be frozen and stored in liquid nitrogen with retention of 85% of cell viability and 180,890 cell/g yield plus normal proliferative capacity and differentiation potential compared with fresh controls. These observations set the basis for adipose-derived stromal cells banking. © 2014 The Authors.

Louis E.D.,Columbia University | Mazzoni P.,Columbia University | Ma K.J.,Columbia University | Moskowitz C.B.,Columbia University | And 3 more authors.
Clinical Neuropathology | Year: 2012

Background: Essential tremor (ET), a progressive, age-associated disease, is one of the most common neurological disorders. Yet until recently, there had been few postmortem examinations so that the full range of pathological changes associated with this disease has not been catalogued. Objectives: We report a patient with ET who had a pattern of pathological change which to our knowledge has not previously been reported in ET or another neurological disease. Methods: Clinical-pathological case report. Results: The patient had adult-onset, non-familial, kinetic arm tremor that gradually worsened. Voice and head tremors were also present. The clinical diagnosis was ET. She died at age 102. On postmortem examination, there was severe segmental loss of Purkinje cells, Bergmann gliosis and numerous torpedoes in the cerebellum. The other outstanding change was the presence of neurons in the cerebral cortex and hippocampus that contained an ubiquitinated, nuclear inclusion. These inclusions were not detected in Luxol fast blue/hematoxylin and eosin-stained sections. Conclusions: This ET patient had a pattern of pathological change that has not been reported previously. This case further reinforces the view that ET is likely to be a heterogeneous family of degenerative diseases whose underlying pathological anatomy involves the cerebellum. © 2012 Dustri-Verlag Dr. K. Feistle.

Gavin K.M.,Aurora University | Gutman J.A.,Aurora University | Kohrt W.M.,Aurora University | Wei Q.,Molecular Diagnostic Laboratory | And 14 more authors.
FASEB Journal | Year: 2016

White adipocytes in adults are typically derived from tissue resident mesenchymal progenitors. The recent identification of de novo production of adipocytes from bone marrow progenitor-derived cells in mice challenges this paradigm and indicates an alternative lineage specification that adipocytes exist. We hypothesized that alternative lineage specification of white adipocytes is also present in human adipose tissue. Bone marrow from transgenicmice in which luciferase expression is governed by the adipocyte-restricted adiponectin gene promoter was adoptively transferred to wild-type recipient mice. Light emission was quantitated in recipients by in vivo imaging and direct enzyme assay. Adipocytes were also obtained from human recipients of hematopoietic stem cell transplantation. DNA was isolated, and microsatellite polymorphisms were exploited to quantify donor/recipient chimerism. Luciferase emission was detected from major fat depots of transplanted mice. No light emission was observed from intestines, liver, or lungs. Up to 35% of adipocytes in humans were generated fromdonormarrow cells in the absence of cell fusion. Nontransplanted mice and stromal-vascular fraction samples were used as negative and positive controls for the mouse and human experiments, respectively. This study provides evidence for a nontissue resident origin of an adipocyte subpopulation in bothmice and humans. © 2016 FASEB.

Gauthier J.,Molecular Diagnostic Laboratory | Ouled Amar Bencheikh B.,Montreal Neurological Institute | Hamdan F.F.,Sainte Justine Research Center | Harrison S.M.,University of Texas Southwestern Medical Center | And 14 more authors.
European Journal of Human Genetics | Year: 2015

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. Recent studies indicate that heterozygous variants in ACTG2, which codes for a smooth muscle actin, cause MMIHS. However, such variants do not explain MMIHS cases that show an autosomal recessive mode of inheritance. We performed exome sequencing in a newborn with MMIHS and prune belly phenotype whose parents are consanguineous and identified a homozygous variant (c.3598A>T: p.Lys1200Ter) in MYH11, which codes for the smooth muscle myosin heavy chain. Previous studies showed that loss of Myh11 function in mice causes a bladder and intestinal phenotype that is highly reminiscent of MMIHS. All together, these observations strongly suggest that loss-of-function variants in MYH11 cause MMIHS. The documentation of variants in ACTG2 and MYH11 thus points to the involvement of the contractile apparatus of the smooth muscle in MMIHS. Interestingly, dominant-negative variants in MYH11 have previously been shown to cause thoracic aortic aneurism and dilatation. Different mechanisms of MYH11 disruption may thus lead to distinct patterns of smooth muscle dysfunction. © 2015 Macmillan Publishers Limited All rights reserved.

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