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Amanda K Tilot, Katerina S Kucera, Arianna Vino, Julian E Asher, Simon Baron-Cohen, Simon E Fisher
Synesthesia is a rare nonpathological phenomenon where stimulation of one sense automatically provokes a secondary perception in another. Hypothesized to result from differences in cortical wiring during development, synesthetes show atypical structural and functional neural connectivity, but the underlying molecular mechanisms are unknown. The trait also appears to be more common among people with autism spectrum disorder and savant abilities. Previous linkage studies searching for shared loci of large effect size across multiple families have had limited success...
March 5, 2018: Proceedings of the National Academy of Sciences of the United States of America
Rahul Badheka, Narendra Kumar Barad, Charulata Savant Sankhla
Pediatric movement disorders are commonly encountered clinical entities in the pediatric outpatient department. These disorders are a heterogenous group of disorders and may represent an underlying genetic disorder, a metabolic disorder or a hypoxic-ischemic insult during the perinatal period. Hyperkinetic movement disorders are more common as compared to hypokinetic disorders. This is unlike the situation in adult movement disorders where hypokinetic disorders are more often seen. A child's nervous system is more prone to hypoxic-ischemic insults due to its higher metabolic demands and the presence of an immature blood-brain barrier...
March 2018: Neurology India
Silvia La Porta, Lise Roth, Mahak Singhal, Carolin Mogler, Carleen Spegg, Benjamin Schieb, Xianghu Qu, Ralf H Adams, H Scott Baldwin, Soniya Savant, Hellmut G Augustin
The endothelial tyrosine kinase receptor Tie1 remains poorly characterized, largely owing to its orphan receptor status. Global Tie1 inactivation causes late embryonic lethality, thereby reflecting its importance during development. Tie1 also plays pivotal roles during pathologies such as atherosclerosis and tumorigenesis. In order to study the contribution of Tie1 to tumor progression and metastasis, we conditionally deleted Tie1 in endothelial cells at different stages of tumor growth and metastatic dissemination...
January 22, 2018: Journal of Clinical Investigation
M Nickkho-Amiry, R Savant, K Majumder, E Edi-O'sagie, M Akhtar
OBJECTIVE: To assess the impact of surgical management of endometrioma on the outcome of assisted reproduction treatment (ART). DESIGN: A systematic review and meta-analysis. SETTING: Department of reproductive medicine at teaching university hospital, UK. PATIENTS: Subfertile women with endometrioma undergoing ART. INTERVENTIONS: Surgical removal of endometrioma or expectant management. MAIN OUTCOME MEASURES: Clinical pregnancy rate, pregnancy rate, live birth rate, number of oocytes retrieved and number of embryos available and ovarian response to gonadotrophins...
January 17, 2018: Archives of Gynecology and Obstetrics
Michael Nahm, David Rousseau, Bruce Greyson
Neuroscientists typically assume that human mental functions are generated by the brain and that its structural elements, including the different cell layers and tissues that form the neocortex, play specific roles in this complex process. Different functional units are thought to complement one another to create an integrated self-awareness or episodic memory. Still, findings that pertain to brain dysplasia and brain lesions indicate that in some individuals there is a considerable discrepancy between the cerebral structures and cognitive functioning...
December 2017: Journal of Nervous and Mental Disease
Savant S Thakur, Kristy Swiderski, James G Ryall, Gordon S Lynch
Duchenne muscular dystrophy is the most common and severe of the muscular dystrophies, a group of inherited myopathies caused by different genetic mutations leading to aberrant expression or complete absence of cytoskeletal proteins. Dystrophic muscles are prone to injury, and regenerate poorly after damage. Remorseless cycles of muscle fibre breakdown and incomplete repair lead to progressive and severe muscle wasting, weakness and premature death. Many other conditions are similarly characterized by muscle wasting, including sarcopenia, cancer cachexia, sepsis, denervation, burns, and chronic obstructive pulmonary disease...
January 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
Deepika Savant, Shachar Kenan, Samuel Kenan, Leonard Kahn
A 32-year-old male presented with a right thumb lesion of 11-month duration. A clinical diagnosis of pyogenic granuloma was entertained but the lesion failed to respond to conservative therapy and eventually necessitated amputation of his thumb. MRI of the right thumb showed an ill-defined, heterogeneously enhancing, infiltrating mass within the dorsal soft tissues abutting the distal phalanx and measuring 4.2 × 2.4 × 0.7 cm. Histologically, the tumor was composed of a high-grade osteosarcoma with a chondrosarcomatous component localized within the underlying bone and a more superficial spindle cell component in the overlying soft tissue...
December 1, 2017: Skeletal Radiology
Satish Savant, Sandeep Savant, Virendra N Sehgal
Basal cell carcinoma (BCC) is one of the pre-eminent tumors of the epidermis, recognized by explicit clinical-pathologic characteristics. It is relatively uncommon in South Asia including India and is amenable to a variety of modalities, including cryosurgery. The outcome of cryosurgery was evaluated in 18 men and 11 women, aged 58 to 83 years, who were treated with two freeze-thaw cycles of liquid nitrogen under local anesthesia, after requisite preparations. Of the 29 patients, 27 had complete clearance of the lesions in the course of 3 years of follow-up, while only 2 had a recurrence, one at 17 months and one at 23 months...
2017: Skinmed
David Lopez, Dennis Montoya, Michael Ambrose, Larry Lam, Leah Briscoe, Claire Adams, Robert L Modlin, Matteo Pellegrini
BACKGROUND: Molecular signatures are collections of genes characteristic of a particular cell type, tissue, disease, or perturbation. Signatures can also be used to interpret expression profiles generated from heterogeneous samples. Large collections of gene signatures have been previously developed and catalogued in the MSigDB database. In addition, several consortia and large-scale projects have systematically profiled broad collections of purified primary cells, molecular perturbations of cell types, and tissues from specific diseases, and the specificity and breadth of these datasets can be leveraged to create additional molecular signatures...
October 25, 2017: BMC Genomics
Andrew Motlis, Moheb Boktor, Paul Jordan, Urska Cvek, Marjan Trutschl, J Steven Alexander
The effectiveness of ant-TNF 'biologic' therapy in is well supported in the management of moderate to severe Crohn's Disease (CD). Our first 'SAVANT' study was to our knowledge the first study report one- year outcomes in patients (n=60) who switched from previous anti-TNFa treatment to Cimzia/Certolizumab. This current study (SAVANT 2) follows up on longer term outcomes and provides additional clinical and biochemical data that may contribute to therapeutic responses. This IRB approved study was a retrospective analysis of the initial patients included in SAVANT 1...
December 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
Kasper Sipowicz, Tadeusz Pietras
The paper reports on a case of 57-year man with autism spectrum disorder and epilepsy with an unusual feature of calendar calculation. Namely, this is the case of savant syndrome, which appears rarely in the course of various neuropsychiatric disorders. Commorbidity of epilepsy and autism particularly predispose to the aforementioned syndrome. In the presented case, apart from the calendar calculation, the man has high language abilities. As previous studies suggest, the extraordinary abilities among persons with savant syndrome works similarly to the language module in healthy persons...
July 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Martin Teichert, Laura Milde, Annegret Holm, Laura Stanicek, Nicolas Gengenbacher, Soniya Savant, Tina Ruckdeschel, Zulfiyya Hasanov, Kshitij Srivastava, Junhao Hu, Stella Hertel, Arne Bartol, Katharina Schlereth, Hellmut G Augustin
The Tie receptors with their Angiopoietin ligands act as regulators of angiogenesis and vessel maturation. Tie2 exerts its functions through its supposed endothelial-specific expression. Yet, Tie2 is also expressed at lower levels by pericytes and it has not been unravelled through which mechanisms pericyte Angiopoietin/Tie signalling affects angiogenesis. Here we show that human and murine pericytes express functional Tie2 receptor. Silencing of Tie2 in pericytes results in a pro-migratory phenotype. Pericyte Tie2 controls sprouting angiogenesis in in vitro sprouting and in vivo spheroid assays...
July 18, 2017: Nature Communications
Chandrakanth Are, Daniel G Coit, Kelly M McMasters, Armando E Giuliano, Benjamin O Anderson, Charles M Balch, K A Pathak, Riccardo A Audisio, Isabel T Rubio, Santiago Gonzalez-Moreno, Masaki Mori, Hidetoshi Eguchi, Dhairyasheel Savant, B K C Mohan Prasad, Muhammad A Cheema, Zafar A Chaudhry, Han-Kwang Yang, Do Joong Park, Felipe Jose Fernandez Coimbra, Claudio Quadros, Hector Martinez Said, Juan Enrique Bargallo-Rocha
No abstract text is available yet for this article.
July 5, 2017: Annals of Surgical Oncology
Adrienne P Savant, Susanna A McColley
In this article, we highlight cystic fibrosis (CF) research and case reports published in Pediatric Pulmonology during 2016. We also include articles from a variety of journals that are thematically related to these articles, or are of special interest to clinicians.
August 2017: Pediatric Pulmonology
Kuldeep Saxena, Sandeep S Savant
Follicular unit extraction (FUE) is becoming an increasingly popular method for hair restoration. As FUE leaves behind no linear scars, it is more suitable to harvest from various body areas including beard, chest, and extremities in hirsute individuals. Body hair characteristics such as thickness, length, and hair cycle may not completely match to that of the scalp hair. The techniques of harvesting body hairs are more time consuming, requiring higher degree of skill than regular scalp FUE. Body hair transplantation can be successfully used either alone or in combination with scalp hair in advanced grades of baldness, for improving the cosmetic appearance of hairlines and in scarring alopecia when there is paucity of donor scalp hair...
May 2017: Indian Dermatology Online Journal
Deepika Savant, Shachar Kenan, Samuel Kenan, Leonard Kahn
We report a case of a 23-year-old female with pain and fullness in the right popliteal fossa. An MRI scan demonstrated an ossified enhancing soft tissue mass. Evaluation of the resected specimen showed a high-grade extraskeletal osteosarcoma juxtaposed to the three zones of myositis ossificans. At 1-year follow-up the patient is alive and disease free. A review of the literature purporting to document such an association failed to demonstrate a single case in which an osteosarcoma and MO with its zonal architecture co-existed...
August 2017: Skeletal Radiology
Rizwana Barkat, Anupam Das, Piyush Kumar, Sushil S Savant
No abstract text is available yet for this article.
January 2017: Indian Journal of Sexually Transmitted Diseases
Michal Klichowski, Gregory Króliczak
Potential links between language and numbers and the laterality of symbolic number representations in the brain are still debated. Furthermore, reports on bilingual individuals indicate that the language-number interrelationships might be quite complex. Therefore, we carried out a visual half-field (VHF) and dichotic listening (DL) study with action words and different forms of symbolic numbers used as stimuli to test the laterality of word and number processing in single-, dual-language and mixed -task and language- contexts...
April 14, 2017: Neuropsychologia
Eduardo L Franco
No abstract text is available yet for this article.
April 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Jonathan D Savant, Aisha Betoko, Kevin E C Meyers, Mark Mitsnefes, Joseph T Flynn, Raymond R Townsend, Larry A Greenbaum, Allison Dart, Bradley Warady, Susan L Furth
Carotid-femoral pulse wave velocity (cfPWV) is a measure of arterial stiffness associated with cardiovascular events in the general population and in adults with chronic kidney disease. However, few data exist regarding cfPWV in children with chronic kidney disease. We compared observed cfPWV assessed via applanation tonometry in children enrolled in the CKiD cohort study (Chronic Kidney Disease in Children) to normative data in healthy children and examined risk factors associated with elevated cfPWV. cfPWV Z score for height/gender and age/gender was calculated from and compared with published pediatric norms...
May 2017: Hypertension
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