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81.
82.
Koumbaris G Hatzisevastou-Loukidou H Alexandrou A Ioannides M Christodoulou C Fitzgerald T Rajan D Clayton S Kitsiou-Tzeli S Vermeesch JR Skordis N Antoniou P Kurg A Georgiou I Carter NP Patsalis PC 《Human molecular genetics》2011,20(10):1925-1936
The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chromosome X (i(Xq)), using whole-genome tiling path array comparative genomic hybridization (aCGH), ultra-high resolution targeted aCGH and sequencing, we provide evidence that the FoSTeS and MMBIR mechanisms can generate large-scale gross chromosomal rearrangements leading to the deletion and duplication of entire chromosome arms, thus suggesting an important role for DNA replication-based mechanisms in both the development of genomic disorders and cancer. Furthermore, we elucidate the mechanisms of dicentric i(Xq) (idic(Xq)) formation and show that most idic(Xq) chromosomes result from non-allelic homologous recombination between palindromic low copy repeats and highly homologous palindromic LINE elements. We also show that non-recurrent-breakpoint idic(Xq) chromosomes have microhomology-associated breakpoint junctions and are likely catalyzed by microhomology-mediated replication-dependent recombination mechanisms such as FoSTeS and MMBIR. Finally, we stress the role of the proximal Xp region as a chromosomal rearrangement hotspot. 相似文献
83.
Diamond M Wartmann CT Tubbs RS Shoja MM Cohen-Gadol AA Loukas M 《Clinical anatomy (New York, N.Y.)》2011,24(1):10-18
The facial nerve (CN VII) nerve follows a torturous and complex path from its emergence at the pontomedullary junction to its various destinations. It exhibits a highly variable and complicated branching pattern and forms communications with several other cranial nerves. The facial nerve forms most of these neural intercommunications with branches of all three divisions of the trigeminal nerve (CN V), including branches of the auriculotemporal, buccal, mental, lingual, infraorbital, zygomatic, and ophthalmic nerves. Furthermore, CN VII also communicates with branches of the vestibulocochlear nerve (CN VIII), glossopharyngeal nerve (CN IX), and vagus nerve (CN X) as well as with branches of the cervical plexus such as the great auricular, greater, and lesser occipital, and transverse cervical nerves. This review intends to explore the many communications between the facial nerve and other nerves along its course from the brainstem to its peripheral branches on the human face. Such connections may have importance during clinical examination and surgical procedures of the facial nerve. Knowledge of the anatomy of these neural connections may be particularly important in facial reconstructive surgery, neck dissection, and various nerve transfer procedures as well as for understanding the pathophysiology of various cranial, skull base, and neck disorders. 相似文献
84.
Klaassen Z Marshall E Tubbs RS Louis RG Wartmann CT Loukas M 《Clinical anatomy (New York, N.Y.)》2011,24(4):454-461
Proper anesthesia and knowledge of the anatomical location of the iliohypogastric and ilioinguinal nerves is important during hernia repair and other surgical procedures. Surgical complications have also implicated these nerves, emphasizing the importance of the development of a clear topographical map for use in their identification. The aim of this study was to explore anatomical variations in the iliohypogastric and ilioinguinal nerves and relate this information to clinical situations. One hundred adult formalin fixed cadavers were dissected resulting in 200 iliohypogastric and ilioinguinal nerve specimens. Each nerve was analyzed for spinal nerve contribution and classified accordingly. All nerves were documented where they entered the abdominal wall with this point being measured in relation to the anterior superior iliac spine (ASIS). The linear course of each nerve was followed, and its lateral distance from the midline at termination was measured. The ilioinguinal nerve originated from L1 in 130 specimens (65%), from T12 and L1 in 28 (14%), from L1 and L2 in 22 (11%), and from L2 and L3 in 20 (10%). The nerve entered the abdominal wall 2.8 ± 1.1 cm medial and 4 ± 1.2 cm inferior to the ASIS and terminated 3 ± 0.5 cm lateral to the midline. The iliohypogastric nerve originated from T12 on 14 sides (7%), from T12 and L1 in 28 (14%), from L1 in 20 (10%), and from T11 and T12 in 12 (6%). The nerve entered the abdominal wall 2.8 ± 1.3 cm medial and 1.4 ± 1.2 cm inferior to the ASIS and terminated 4 ± 1.3 cm lateral to the midline. For both nerves, the distance between the ASIS and the midline was 12.2 ± 1.1 cm. To reduce nerve damage and provide sufficient anesthetic for nerve block during surgical procedures, the precise anatomical location and spinal nerve contributions of the iliohypogastric and ilioinguinal nerves need to be considered. 相似文献
85.
Alexandros E. Beris M.D. Marios G. Lykissas M.D. Alexandros Payatakes M.D. Vasileios A. Kontogeorgakos M.D. Alexandros Mavrodontidis M.D. Anastasios V. Korompilias M.D. 《Microsurgery》2009,29(3):240-243
We present a case of a 34‐year‐old white female patient who, 13 years ago, sustained a pathological intracapsular femoral neck fracture on a pre‐existing aneurysmal bone cyst. Three months later radiographic and magnetic resonance imaging evaluation revealed both femoral neck fracture and stage IV osteonecrosis of the femoral head according to Steinberg classification system. Management was accomplished with combined free vascularized fibular grafting and internal osteosynthesis with a 130° blade plate. Union was achieved in 7 months. Progression of osteonecrosis was arrested. Hip salvage and a satisfactory subjective and clinical outcome were achieved. At the last follow‐up, 13 years postoperatively, the patient had satisfactory functional outcome. © 2008 Wiley‐Liss, Inc. Microsurgery, 2009. 相似文献
86.
Marios C Yiannakas David W Carmichael Michael J Farquharson Roger J Ordidge 《Journal of bone and mineral research》2009,24(2):324-333
BMD is commonly obtained with DXA, but this is confounded by the length and composition of tissues that the X‐ray must traverse. Subpixel enhancement of nonuniform tissue (SPENT) is a novel MRI technique that can provide (direction specific) information based on the subvoxel structural uniformity of a sample. We hypothesized that the SPENT signal would be related to BMD. This hypothesis was tested using (1) 2D computer simulation of a simplified bone structure and (2) in vitro experiments. Simulation results suggested that a resolution of 610–800 μm was required for SPENT to be correlated well with the simulated bone volume fraction (BVF) and, at this resolution, a modest signal‐to‐noise ratio (SNR > 5) was required for reasonable data quality. For the experiments, 15‐mm3 human trabecular bone samples were used (1) to quantify BMD (through both physical measurement and DXA) and (2) to perform MRI on a 7T system. Standard and SPENT images were obtained. Normalized SPENT (NSPENT) images were calculated by pixel‐by‐pixel division of the SPENT images by the standard proton density images to remove any dependence on proton density and coil uniformity from the SPENT images. The average NSPENT values were determined over the sample volume and compared with the reference BMD measurements. Each of the individual NSPENT directions was highly correlated with BMD (x‐NSPENT, R2 = 0.73, p < 0.001; y‐NSPENT, R2 = 0.76, p < 0.001; z‐NSPENT, R2 = 0.89, p < 0.001). With all three individual NSPENT directions combined, the correlation with BMD was found to be the highest (xyz‐NSPENT, R2 = 0.95, p < 0.001). The results suggest that the SPENT technique can provide a noninvasive measure of BMD at resolution and SNR levels achievable in vivo. 相似文献
87.
Modification of inherent and drug-induced dopaminergic activity after exposure to benzo(alpha)pyrene
Konstandi M Harkitis P Thermos K Ogren SO Johnson EO Tzimas P Marselos M 《Neurotoxicology》2007,28(4):860-867
The aim of this study was to investigate the effect of benzo(alpha)pyrene (B(alpha)P), a representative polycyclic aromatic hydrocarbon (PAH), on dopaminergic activity in brain. (B(alpha)P) altered dopaminergic activity in discrete regions of the rat brain, including the hippocampus, hypothalamus, caudate putamen and nucleus accumbens. Specifically, B(alpha)P increased DA levels in the hippocampus and DA turnover in the caudate putamen. In addition, B(alpha)P suppressed DA levels in the caudate putamen and DA turnover in the nucleus accumbens. B(alpha)P also altered the effect of several dopaminergic agents, L-DOPA, sulpiride and bromocriptine, on DA activity. In particular, B(alpha)P enhanced the L-DOPA-induced increase in the DA turnover ratio in the caudate putamen and increased DA levels in the nucleus accumbens. B(alpha)P also reversed the sulpiride-induced increase of DA turnover in the nucleus accumbens and the bromocriptine-induced increase of DA turnover in the hippocampus. In addition, DA turnover was increased by B(alpha)P in the nucleus accumbens and caudate putamen and DA levels were suppressed in the nucleus accumbens of bromocriptine treated rats, though the drug alone had no effect. These changes indicate that exposure to B(alpha)P and related compounds may affect dopaminergic function in discrete brain regions that are implicated in cognitive functions, psychosis, depression and Parkinson's disease, and may possibly interfere with their pharmacological intervention. 相似文献
88.
Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene. In the present study a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype. The results support the hypothesis that severe, early-onset neuropathy may be related to either an alteration of a conserved amino acid or a disruption of the tertiary structure of myelin protein zero. 相似文献
89.
Froudarakis ME Papadaki HA Klimathianaki M Damianaki A Pougounias M Kotsianidis I Astoul P 《Respiratory medicine》2007,101(6):1212-1217
BACKGROUND: Thoracoscopic talc poudrage induces peripheral blood granulocytosis and lymphopenia. The aim of this study is to investigate the type of lymphopenia in patients undergoing thoracoscopic talc poudrage. METHODS: We have measured peripheral blood lymphocyte subsets in 11 patients undergoing thoracoscopic talc poudrage, before (baseline), at 24 and 48 h after the procedure. Lymphocyte numbers were analysed by flow cytometry for the evaluation of the CD3+, CD4+, CD8+ cells (total T-lymphocytes, helper T-lymphocytes, cytotoxic T-lymphocytes, respectively), the CD19+ cells (B-lymphocytes), and the CD16+, CD56+ and CD57+ cells (NK-cells). No anti-inflammatory medication was permitted before, during or after the procedure. RESULTS: Absolute peripheral blood lymphocyte count significantly decreased following thoracoscopic talc poudrage compared to baseline values (p=0.007). Similarly, peripheral blood CD3+, CD4+ and CD8+ lymphocyte counts significantly decreased compared to baseline (p=0.005, 0.02 and 0.03, respectively) with a more prominent reduction of CD3/CD45RO memory cells. No significant difference was found in the absolute number of CD19+, CD16+, CD56+, and CD57+ cells before and after thoracoscopic talc poudrage. CONCLUSION: Patients undergoing thoracoscopic talc poudrage display peripheral blood T-lymphopenia following the procedure. 相似文献
90.
Liechty P Tubbs RS Loukas M Blount JP Wellons JC Acakpo-Satchivi L Oakes WJ Grabb PA 《Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences》2007,45(1):23-25
Accessory nerve meningiomas are exceedingly rare. We present a case of a nine-year-old patient with neurofibromatosis type 2 who had radiologic evidence of spinal cord compression from an upper cervical/foramen magnum lesion. He was asymptomatic from this lesion, but it progressed in size. The tumor was resected and histologic investigation revealed frequent tight whorls and psammoma bodies consistent with meningioma. To the authors' knowledge, this is the first reported spinal accessory nerve meningioma in a pediatric patient. 相似文献