Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

The Impact of the COVID-19 Pandemic on Ophthalmology Resident Perceptions of Clinical Experience, Surgical Training, and Personal Life

Abstract Objective  The coronavirus disease 2019 (COVID-19) pandemic has affected multiple areas of health care, including residency training programs. Elucidating the effect of the COVID-19 pandemic on resident clinical experience, surgical training, and wellness is essential to identify areas in which programs can provide additional educational and personal resources to trainees. This study aims to evaluate the experiences of ophthalmology residents during the pandemic. Design  The design is a cross-sectional, nonvalidated survey study. The survey was administered online with data collection from August 22 to August 31, 2020. Participants  Applicants to the Bascom Palmer Eye Institute ophthalmology residency program during the 2016 to 2019 application cycles were invited to complete the survey to encompass trainees currently in ophthalmology residency during the COVID-19 pandemic. Applicants who were not training at an ophthalmology residency program during the pandemic were excluded. Methods  This study involved eliciting feedback from ophthalmology residents on the perceived impact of COVID-19 on their residency experiences through survey questions. Main Outcome Measures  Perceived didactic, clinical, surgical, and overall experiences of residents during the COVID-19 pandemic, effect on cataract and noncataract surgical case volume, and perceived effects on resident personal life. Results  Responses were obtained from 357 (22.8%) individuals, 193 of which met inclusion criteria (59.1% male, 54.9% aged 30–34). Most participants reported overall worsening of their ophthalmology training experience due to COVID-19 (75.1%), with worsening of clinical training reported by 72.5% of participants and worsening of surgical training reported by 89.1% of participants. There were no significant differences in the perception of the impact of COVID-19 on overall training experience, clinical training experience, or surgical training experience among geographic regions ( p  = 0.43, p  = 0.23, p  = 0.27, respectively). A higher percentage of post-graduate year 3 (PGY3) and PGY4 trainees reported worsened clinical ( p  = 0.003) or surgical ( p  = 0.03) experience compared with PGY2 trainees. Participants also reported impact on personal life including time spent away from family (52.9%), worsened friendships with co-residents (29.5%), forced changes in living situation (15.0%), and increased expenses (13.5%). Conclusion  The COVID-19 pandemic has substantially impacted clinical and surgical experience of ophthalmology residents, who also report personal stressors due to the pandemic. Identifying alterations in the ophthalmology residency experience is essential to provide additional resources to support ophthalmology trainees professionally and personally during this time

Penetrating Orbital Injury Due to a Wooden Dowel in a Birthday Cake

This case report describes left upper eyelid swelling and pain following periocular trauma in a 14-year-old girl whose face was shoved from behind into a multilayered cake containing a wooden dowel

Corneal Laceration Associated With Upper Eyelid Blepharoplasty

A 64-year-old woman underwent bilateral upper eyelid blepharoplasty and subsequently presented with decreased vision at her first postoperative visit 1 week later. She was found to have an 8-mm partial-thickness corneal laceration of her left eye and underwent immediate surgical laceration repair. The laceration etiology was thought to be related to damage from the initial blepharoplasty incision or Bovie cautery tip-induced laceration. After laceration repair, she had residual astigmatism and corneal scarring leading to poor vision. Corneal injuries, including abrasions and perforations, are rare complications of blepharoplasty, and the case in this study is the first report of corneal laceration following blepharoplasty. Corneal perforations and lacerations can lead to significant damage and vision loss, indicating a need for careful attention to surgical technique and instrument placement intraoperatively, routine use of corneal protectors even during superficial aesthetic procedures such as blepharoplasties, and comprehensive postoperative patient instructions.A 64-year-old woman who underwent an upper eyelid blepharoplasty sustained a partial-thickness corneal laceration of her OS, which required emergent repair and resulted in persistent vision loss secondary to large corneal scar

Bilateral Thermal Keratopathy Due to Plasma Skin Regeneration

A 40-year-old woman underwent periocular plasma skin regeneration, a cosmetic treatment for periorbital rejuvenation. She subsequently developed bilateral thermal keratitis, manifesting as blurred vision, irritation, and redness, with a vision decrease to 20/60 and 20/50 in her OD and OS, respectively. Examination demonstrated bilateral large, irregular corneal epithelial defects and edema, necessitating treatment with amniotic membrane grafts, bandage contact lenses, and hypertonic saline. One year posttreatment, her visual acuity improved to 20/20 and 20/25, albeit with ongoing symptomatic dryness and bilateral anterior stromal haze. This case, as only the second reported instance of ocular damage from periocular plasma skin regeneration, underscores the need for heightened awareness of potential ocular complications following plasma skin regeneration and reinforces the importance of protective measures during periocular procedures

Beyond the Surface: A Systematic Review of Perforating and Penetrating Globe Injuries From Blepharoplasty

This study aims to address the infrequent but serious complication of globe injuries in blepharoplasty. A case series of 3 patients with globe injuries postblepharoplasty is presented, along with a systematic literature review that revealed 13 previously reported cases. Quantitative and comparative analysis is described. Injuries ranged from deep thermal burns to full-thickness corneal or scleral lacerations, with one instance of traumatic cataract. The median time from surgery to symptom onset was 1 day, with a concerning median delay of 7 days to presentation to an ophthalmologist. Visual outcomes were generally poor, with nearly all patients experiencing permanent visual morbidity. The systematic review revealed 3 cases of endophthalmitis following perforating scleral injuries. Comparative analysis showed no significant differences in visual outcomes between penetrating and perforating injuries. The findings of this study emphasize the need for increased vigilance for globe injuries that require prompt ophthalmological evaluation following blepharoplasty, especially considering the observed delay in presentation and the extent of visual morbidity. The study advocates for improved practitioner training in recognizing and managing these complications and underscores the importance of patient education regarding the potential risks and the necessity of timely postoperative care

Levator Palpebrae Superioris With Inferior Oblique Muscle Flaps for Total Ocular Surface Reconstruction

A healthy middle-aged man sustained extensive burns after a motor vehicle accident, including fourth-degree burns to the ocular adnexa. He had bilateral eyelid necrosis with complete tissue loss to the orbital rim. Progressive corneal thinning occurred bilaterally despite frequent lubrication, weekly amniotic membrane placement, and a Gunderson flap, ultimately requiring evisceration of his OS. In accordance with family wishes to perform all interventions for the OD, he underwent ocular surface reconstruction with levator palpebrae superioris (LPS) and inferior oblique (IO) muscle flaps, supplemented with an orbital fat transfer and bucket-handle muscle flap. These flaps were covered with porcine urinary bladder matrix and remained viable with complete globe coverage postoperatively. Although local eyelid flaps traditionally involve tissue supplied by branches of the external carotid artery, this case suggests that orbital-internal carotid artery based flaps utilizing the LPS and IO muscles may achieve ocular surface coverage after complete periocular and facial soft tissue loss

Recurrent Periorbital Edema Associated With Retained Foreign Body After Filler Injection

A 34-year-old man presented with recurrent bilateral periorbital swelling and pain for 16 years after receiving facial fillers of an unknown substance in a hotel room from a stranger claiming to work in a medical office. Exam demonstrated a firm, mildly tender nodule along the right upper cheek. Imaging revealed a tubular hyperdensity in the right premaxillary soft tissues. Lower eyelid and upper cheek dissection resulted in retrieval of a tubular metallic foreign body consistent with a needle. Histopathology of surrounding tissue demonstrated iron deposition with granulomatous inflammation. Periocular fillers are a common aesthetic procedure. Although generally well-tolerated, complications include inflammatory reactions, infection, necrosis, and vision loss. This case highlights retention of a metallic foreign body, a complication of filler injection that has not been previously reported, emphasizing the importance of careful injection technique by licensed professionals and imaging and surgical exploration if a foreign body is suspected