Regulatory element copy number differences shape primate expression profiles

Gene expression differences are shaped by selective pressures and contribute to phenotypic differences between species. We identified 964 copy number differences (CNDs) of conserved sequences across three primate species and examined their potential effects on gene expression profiles. Samples with copy number different genes had significantly different expression than samples with neutral copy number. Genes encoding regulatory molecules differed in copy number and were associated with significant expression differences. Additionally, we identified 127 CNDs that were processed pseudogenes and some of which were expressed. Furthermore, there were copy number-different regulatory regions such as ultraconserved elements and long intergenic noncoding RNAs with the potential to affect expression. We postulate that CNDs of these conserved sequences fine-tune developmental pathways by altering the levels of RNA.     

Evaluation of Dimensional Accuracy of Panoramic Cross‐Sectional Tomography,Its Ability to Identify the Inferior Alveolar Canal,and Its Impact on Estimation of Appropriate Implant Dimensions in the Mandibular Posterior Region

Objectives: To evaluate the dimensional accuracy of panoramic cross‐sectional tomography, its impact on implant size estimation and its ability in identifying the inferior alveolar canal in the mandibular posterior region. Material and Methods: Eight partially edentulous mandibles with 18 edentulous sites were obtained. Orthopantomograms and tomograms were made and the mandible's outline and the position of mandibular canals on tomograms were traced on a clear acetate paper. Horizontal and vertical magnification factors were calculated. The mandibular height, distance between mandibular canal and alveolar crest, maximum bucco‐lingual width, distance between buccal cortex and mandibular canal, and cortical thickness at the inferior border of the mandible were measured. Potential implant sites were identified and implant sizes were estimated. Location and visibility of mandibular canals were also evaluated. The mandibles were sectioned at each site and all the above mentioned parameters were assessed which served as gold standard. Results: Mean horizontal and vertical magnification factors were 1.47 ± 0.048 and 1.53 ± 0.038. Total height and maximum bucco‐lingual width were underestimated by 1.88% and 1.59%. Crest to canal distance, cortical thickness at the inferior border of the mandible and buccal cortex to mandibular canal were overestimated by 0.59%, 5.16%, and 3.64%. Implant sizes were estimated for 11 sites and changes were recorded at 2 sites between record 1 and record 2. However, there was no disagreement between record 2 and record 3. Of the canals, 61.11% were located lingually and the visibility of mandibular canals was poor in 44.44% of cases. Conclusions: The tomograms were found to be accurate for the measurements in both horizontal and vertical planes and reliable for implant size estimation, taking into consideration proper magnification factors. They were also found to be useful in assessing the location of mandibular canal but were not very effective in discerning it.     

Reprogrammed keratinocytes from elderly type 2 diabetes patients suppress senescence genes to acquire induced pluripotency

Nuclear reprogramming enables patient-specific derivation of induced pluripotent stem (iPS) cells from adult tissue. Yet, iPS generation from patients with type 2 diabetes (T2D) has not been demonstrated. Here, we report reproducible iPS derivation of epidermal keratinocytes (HK) from elderly T2D patients. Transduced with human OCT4, SOX2, KLF4 and c-MYC stemness factors under serum-free and feeder-free conditions, reprogrammed cells underwent dedifferentiation with mitochondrial restructuring, induction of endogenous pluripotency genes - including NANOG, LIN28, and TERT, and down-regulation of cytoskeletal, MHC class I- and apoptosis-related genes. Notably, derived iPS clones acquired a rejuvenated state, characterized by elongated telomeres and suppressed senescence-related p15INK4b/p16INK4a gene expression and oxidative stress signaling. Stepwise guidance with lineage-specifying factors, including Indolactam V and GLP-1, redifferentiated HK-derived iPS clones into insulin-producing islet-like progeny. Thus, in elderly T2D patients, reprogramming of keratinocytes ensures a senescence-privileged status yielding iPS cells proficient for regenerative applications.     

Le-fort I access osteotomy to nasopharyngeal tumor – A case-report

Removal of extensive central skull base and paranasal sinus tumors is a significant challenge that is often hampered by limited access and exposure. The safety and efficacy of the Le Fort I osteotomy approach to the skull base have been well established. The purpose of this article is to describe the use of Le fort-1I osteotomy as an access procedure to reach tumors in the nasopharyngeal region in a young patient. The large mass which he presented within the nasopharyngeal region, later diagnosed to be juvenile nasopharyngeal angiofibroma, posed a challenge for surgical access.     

Mycobacterium fortuitum skin infection as a complication of anabolic steroids: a rare case report

Mycobacterium fortuitum is a rare cause of recurrent skin abscesses in an immunocompetent person. We report the case of a 37-year-old man presenting with multiple recurrent non-healing skin abscesses. Culture of the abscess wall yielded growth of M fortuitum. In our case, we highlight the association of anabolic steroids with non-tuberculous mycobacterial skin abscesses that fail to resolve despite repeated drainage.     

Hereditary protein C deficiency in Indian patients with venous thrombosis

Approximately, 4-11 % of the patients with idiopathic venous thrombosis (VT) show protein C (PC) deficiency. The molecular pathology of PC deficiency was analyzed in 102 patients; 98 healthy controls were also studied to assess the association of various polymorphisms with reduced PC levels. PROC gene mutations were detected only in 8 (7.8 %) patients with reduced PC levels. PROC promoter region CG polymorphisms showed statistically significant association with reduced PC levels (p < 0.001). PC deficiency in Indian VT patients can, thus, largely be explained by PROC gene promoter CG polymorphisms; only a small fraction of the patients show specific mutations in PROC gene.     

Simultaneous triple point-of-care testing for HIV, syphilis and hepatitis B virus to prevent mother-to-child transmission in India

An innovative simultaneous triple point-of-care (STPOC) screening strategy for syphilis, hepatitis B and HIV with Determine(?) tests was offered to pregnant women presenting for antenatal care and evaluated for feasibility and preference in rural India. Of 1066 participants approached, 1046 consented, of which 1002 (96.0%) completed the strategy. Only 9% reported any history of testing in their current pregnancy. With STPOC screening, 989 women (98.7%) tested negative and 13 had preliminary positive results for infection. The total time taken was 45 minutes per participant. Mothers and infants were provided prophylaxis/treatment for HIV, syphilis and hepatitis B, with interventions initiated within 3-5 days. STPOC was preferred by 99.3% (95%CI: 98.8-99.8%) of participants, facilitated early simultaneous screening for the three infections, timely initiation of prophylaxis/treatment and was feasible in this rural setting. These data suggest that multiplexed STPOC screening for syphilis, hepatitis B and HIV in pregnancy would be desirable for women in rural India.