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<i>SCAPER</i> -associated nonsyndromic autosomal recessive retinitis pigmentosa
摘要： Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified as causing syndromic autosomal recessive retinitis pigmentosa with the extraocular manifestations of intellectual disability and attention-deficit/hyperactivity disorder. We present the case of an 11-year-old boy that presented to our clinic with the complaint of decreased night vision. Clinical presentation, family history, and diagnostic imaging were congruent with the diagnosis of autosomal recessive retinitis pigmentosa. Genetic testing of the patient and both parents via whole-exome sequencing revealed the homozygous mutation c.2023-2A>G in SCAPER. Unique to our patient's presentation is the absence of intellectual disability and attention-deficit/hyperactivity disorder, suggesting that SCAPER-associated retinitis pigmentosa can also present without systemic manifestations.
关键词： syndromic disorder,autosomal recessive,SCAPER,retinitis pigmentosa
更新于2025-09-04 15:30:14
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Ergonomic Microscope: Need of the Hour
摘要： Background: Prolonged use of conventional microscope develops musculo-skeletal injuries like chronic pain syndrome, including shoulder, neck, back aches & fatigue. Since the problems go unnoticed, the injuries can lead to some serious permanent damages. This further leads to a compromise in the health and welfare of the person and the institute. Hence, an understanding about the ergonomics is the need of the hour in this postmodern era. Inspite of few studies and surveys about ergonomics, there is still a steep rise in the musculoskeletal disorders. Aim of the Study: The aim of our study was to gauge the general awareness of pathologists, microbiologists and oral pathologists towards ergonomics in their profession. Materials and Methods: A cross-sectional survey based study was de signed, which included a questionnaire. The questionnaire four alternatives. included multiple choice questions with Professionals (pathologists, microbiologists and oral pathologists) were included in the survey. Teaching faculty (Professors, Associate Professors and Lecturers) and Post graduate students formed the study group. results and Observations: The response to the questionnaire was 100%. Less than 50% of oral pathologists were aware of the importance of ergonomics in their profession. The most common site affected was neck and back. One of the drastic observations was that, Oral Pathologists suffered from a combination of problems affecting neck, back, eyes, headache, shoulders, arms and wrists. conclusion: Increase in our understanding regarding ergonomic- ally designed microscopes can increase our efficiency and in turn improve our general well-being. With improvements in ergonomics, professionals would be able to modify and optimize their working conditions. Certain guidelines need to be followed by the profes- sionals to reduce chances of musculoskeletal disorders.
关键词： Occupational injury,Neutral spine,OSHA,Conventional microscope,Work-related musculoskeletal disorder,CDC guidelines
更新于2025-09-04 15:30:14
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Signatures of long-range-correlated disorder in the magnetotransport of ultrathin topological insulators
摘要： In an ultrathin topological insulator (TI) ?lm, a hybridization gap opens in the TI surface states, and the system is expected to become either a trivial insulator or a quantum spin Hall insulator when the chemical potential is within the hybridization gap. Here we show, however, that these insulating states are destroyed by the presence of a large and long-range-correlated disorder potential, which converts the expected insulator into a metal. We perform transport measurements in ultrathin dual-gated topological insulator ?lms as a function of temperature, gate voltage, and magnetic ?eld, and we observe a metalliclike nonquantized conductivity, which exhibits a weak antilocalizationlike cusp at low magnetic ?elds and gives way to a nonsaturating linear magnetoresistance at large ?elds. We explain these results by considering the disordered network of electron- and hole-type puddles induced by charged impurities. We argue theoretically that such disorder can produce an insulator-to-metal transition as a function of increasing disorder strength, and we derive a condition on the band gap and the impurity concentration necessary to observe the insulating state. We also explain the linear magnetoresistance in terms of strong spatial ?uctuations of the local conductivity using both numerical simulations and a theoretical scaling argument.
关键词： disorder potential,hybridization gap,magnetotransport,linear magnetoresistance,topological insulator
更新于2025-09-04 15:30:14