Primary Ewing sarcoma/primitive neuroectodermal tumors of the kidney: Case series of eight cases from a single center with follow-up details.

Introduction: We aim to share the experience of a single center in the management of eight cases of renal primitive neuroectodermal tumor (PNET) which are uncommon, aggressive tumors. The objectives were to study the presentation of the disease, the treatment offered and its outcomes, and the comparison of the treatment with published literature. Methods: The single-center renal PNET data of all patients were retrospectively reviewed from 2011 to 2022. Renal PNET was seen in eight patients. Minimum follow-up period of 1 year was required. Results: Male-to-female ratio was 7:1. The mean age was 26.5 years. All were locally advanced tumors on presentation. One patient had an inferior vena cava thrombus, one patient had metastases on presentation, and two patients had tumor extending to paranephric space. The diagnosis was made by histopathology supported by immunohistochemistry showing CD99 positivity. All patients were treated with radical nephrectomy, followed by chemotherapy in all and radiotherapy in three patients. Two patients expired at 3½ and 6 years after surgery, the remaining six are alive at a median follow-up period of 34.5 months. Conclusion: Renal PNET is an uncommon renal tumor which is aggressive and requires multimodal therapy for prolonged survival.

Clinicodemographic profile of orbital exenteration in a tertiary eye care center - A 20-year experience.

PURPOSE: This study aimed to determine the clinical indications for orbital exenteration, demographic profile of these patients, and clinicopathologic correlations in the current times and to compare these results with previous published data. METHODS: It was a retrospective study. All exenterations performed at a tertiary eye care center over a period of 20 years (from January 2001 to June 2020) were retrospectively evaluated. Patient records were reviewed to obtain demographic data, presenting symptoms and their duration, laterality, and clinical and histopathologic diagnosis. RESULTS: A total of 352 cases (males:females = 222:130) who underwent exenteration were identified. Patients age ranged from 11 months to 87 years (mean: 43.86 years, median: 50 years). The most common indication for exenteration was found to be eyelid malignancy in 54.36%, followed by retinoblastoma in 18.75% and primary orbital tumors in 14.49%. Out of 156 cases of eyelid malignancies requiring exenteration, squamous cell carcinoma (SCC) was the most common histologic subtype ( n = 94, 60.26%), followed by sebaceous gland carcinoma ( n = 40, 25.64%) and basal cell carcinoma ( n = 20, 12.82%). The most common primary orbital tumors requiring exenteration were adenocystic carcinoma of the lacrimal gland in adults and rhabdomyosarcoma in the pediatric age group. Benign conditions requiring exenteration included fulminant fungal orbital infections and lymphangioma among others. CONCLUSION: The number of exenterations performed have significantly increased in terms of absolute numbers. However, the ratio of exenteration to other tumor-related surgeries, mainly excision biopsy, has reduced compared to that reported from a previous study. The most common indication in our study remains eyelid malignancy followed by intraocular malignancy. However, SCC has emerged as the most common tumor histologic subtype requiring exenterations.

Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia.

PURPOSE: Retinoblastoma (RB) is the most common intraocular tumor in pediatric age group. The role of genetics has been explored in predicting survival prognosis, but its role in predicting globe salvage remains largely unexplored. We hereby aim to isolate cell-free DNA (cfDNA) from aqueous humor (AH) in RB eyes and validate its use for genetic studies. METHODS: AH was obtained from 26 eyes undergoing enucleation (arm A) or intravitreal chemotherapy (arm B). Isolation of cfDNA was done using QIAamp ® Circulating Nucleic Acid kit, and the cfDNA was utilized for targeted sequencing of RB1 gene. RESULTS: We could isolate cfDNA in all eyes (72% unilateral and 28% bilateral) with a distribution peak between 140 and 160 bp and a mean concentration of 27.75 ng/µl for arm A and 14 ng/µl for arm B. Targeted sequencing done on four samples showed RB1 gene mutations, namely, inframe deletion (c. 78-80del, p.Pro29del), start-loss mutation (c.1A>T, p.Met1?), nonsense mutations (c.2236G>T, p.Glu746Ter), (c.1659T>A, p.Cys553Ter), and (c.2065C>T, p.Gln689Ter), and novel missense mutations (c.672C>A, p.Asp224Glu) and c.692C>T (p.Pro231Leu). Genetic profile of cfDNA extracted from AH and genomic DNA from the tumor tissue was comparable. CONCLUSION: Our study supports the previous reports that AH may be used as a source of tumor-derived cfDNA. This is the first report from South Asia on isolation and genetic analysis of cfDNA from AH of RB eyes and, therefore, a big step forward in paving the role of tumor genetics in RB. Further studies are required to elucidate concordance between the tumor and AH genetic profile.

Implications for Public Health Regulation if Chevron Deference Is Overturned.

This Viewpoint describes implications for medicine and public health if the US Supreme Court decides to overturn or narrow Chevron deference.

A randomized controlled trial comparing infectious complications using mini perc with and without suction for renal stones less than 3 cm in size.

The purpose was to do a study to compare infectious complications in patients operated for MiniPerc or Minimally invasive Percutaneous Nephrolithotomy (MPCNL) using MIP and MPCNL with suction using Shah Superperc sheath for medium-sized renal stones less than 3 cm in size. The primary objective of this study is to compare the infectious complications and the secondary objectives are to compare stone-free rates, complication rates and operative times. A prospective randomized controlled trial with patients having proximal ureteral and renal stones of 10-30 mm size and planned for MPCNL done at a single institute. A total of 80 consecutively admitted patients with written informed consent were included for randomization with 40 patients in each arm of MPCNL and suction MPCNL. The median age in MPCNL and suction MPCNL arms were 48 and 49 years, the median stone size of 15.45 and 16.7 cm, the Median stone volume of 1576.2 vs 1752 mm3, and the median stone density of 1258 and 1250 Hu, the median hospital stay of 3 days in both arms were comparable. Infectious complications were comparable in both arms. Operative time was significantly less in the suction MPCNL group (26.5 min-IQR 17-34.8) than in the MPCNL group (34.8 min-IQR 20-45), p = 0.021 and stone-free rates (SFR), were more in Suction MPCNL arm 97.5% than in MPCNL 87.5%, p = 0.04. Overall, the complication rates were comparable in both arms. Suction MPCNL procedure resulted in shorter operating times and more SFR than conventional MPCNL with comparable complication rates.

Transconjunctival excision of external angular dermoid cyst: A novel approach.

PURPOSE: To excise external angular dermoid cyst (EADC) by transconjunctival approach and compare the surgical outcomes with the standard transcutaneous approach. DESIGN: This was a prospective, pilot, interventional, comparative study. METHODS: Patients with EADC with no or minimal fixity to the underlying bone on palpation and limited to eyelid were recruited. Patients were randomized into 2 groups; group 1 included patients with transcutaneous approach, and group 2 included patients with transconjunctival approach. The parameters assessed were intraoperative complications, duration and ease of surgery, postoperative complications, and overall satisfaction. RESULTS: Six children with a painless, round lesion in outer aspect of eyelid were recruited in each group. None of the patients had any intraoperative or postoperative complications, including dysfunction of eyelid contour and fold, persistence or late occurrence of lateral eyelid droop, excessive or recurrence of swelling, and ocular surface problems, especially in group 2, but a skin scar though hidden was inevitable in group 1. The duration of surgery was comparable with better ease of surgery in group 1 and a gradual learning curve in group 2. The overall satisfaction scores were significantly better in group 2 (p < 0.0001). In group 1, parents of 5 of 6 patients had to be reassured that the skin scar will fade with time. CONCLUSION: Transconjunctival excision of EADC is a viable and novel approach in patients with mobile cyst that is limited to the eyelid with no obvious bony fossa. Main limitations of the approach are that it requires surgical expertize, provides less surgical space, and has a gradual learning curve.

Autologous fat transfer for orbital volume augmentation in sockets with small nonseeing eyes.

OBJECTIVE: End-stage ocular diseases usually end up with atrophic bulbi or phthisis bulbi leading to orbital volume loss which needs to be addressed. We studied the use of autologous fat for volume augmentation of the orbit because it is minimally invasive and allows early rehabilitation with the use of an artificial eye. DESIGN: It was a prospective, interventional study. METHODS: A total of 14 eyes of 14 patients with atrophic bulbi with shrinkage or phthisis bulbi with no perception of light (PL) and aged older than 18 years were included for the study purpose. Painful or inflamed eyes or suspected intraocular tumors were excluded. An autologous fat graft was obtained from the lower abdomen or buttocks and injected into the retrobulbar space using a 20-gauge cannula after adequate peribulbar anesthesia. Outcomes measures were patient satisfaction, change in Hertel's exophthalmometry, vertical and horizontal palpebral aperture, and socket volume. RESULTS: Hertel exophthalmometry showed a significant improvement both with and without an artificial eye from 14.92 ± 2.3 mm to 16.71 ± 1.94 mm (p-value 0.003 without an artificial eye). The vertical palpebral aperture also showed a significant improvement from 5 ± 1.70 mm to 6.71 ± 1.58 mm (p-value < 0.001). There was a significant reduction in the socket volume from 1.22 ml to 0.39 ml (p-value < 0.001). No local or donor site complications were seen. CONCLUSIONS: Autologous fat transfer is a minimally invasive, safe, and effective procedure for orbital volume augmentation in small, nonseeing eyes. The short-term outcome of our study was good in most patients and can be considered for such patients.

Small cell neuroendocrine carcinoma with primary orbital involvement - The unseen, and a review of literature.

Neuroendocrine neoplasms are derived from the epithelial lineages mainly of respiratory tract, with predominant neuroendocrine differentiation. There are only a handful of documented cases of paranasal small cell neuroendocrine carcinomas (SNEC) with primary orbital involvement. Here, the authors describe a 33-year-old male patient with rapidly progressive swelling of the right lower lid with proptosis since 4 weeks. On contrast-MRI orbit, an ill-defined multilobulated mass measuring 3.6 × 3.1 cm with intense homogenous enhancement was seen in the right retrobulbar space involving the right ethmoid sinus. On incisional biopsy, a poorly differentiated mass containing numerous small round blue cells and scanty intervening stroma with prominent necrosis and apoptosis was seen. Immunohistochemistry was strongly positive for synaptophysin. He was diagnosed as a case of SNEC and received chemotherapy, with good response till date of 9 months of follow up. The authors present a literature review and describe challenges in management of a primary orbital SNEC.

Psychosocial factors among patients undergoing orbital exenteration.

CLINICAL RELEVANCE: Patients undergoing exenteration have significant anxiety and depression, and lower quality of life that worsens after surgery. Therefore, counselling by an eye health-care provider along with the team of psychologist and psychiatrist could be provided pre-operatively to assess baseline psychosocial status and be continued post-operatively to look for any deterioration. BACKGROUND: Orbital exenteration comes with psychological trauma of disfigurement of face. The study aimed to evaluate the quality of life, anxiety and depression in patients undergoing orbital exenteration, before and after the procedure; and also compared the same with patients previously rehabilitated by spectacle-mounted prosthesis after exenteration. METHODS: It was a prospective cohort study. Group I included patients who were planned to undergo orbital exenteration, and group II were those already using spectacle-mounted prosthesis post orbital exenteration for at least 3 months. Level of depression was assessed using Patient Health Questionnaire-9(PHQ-9), anxiety using Generalised Anxiety and Depression scale-7(GAD-7), and quality of life was assessed using Functional Assessment of Cancer Therapy- General (FACT-G) score. RESULTS: A total of 19 patients were recruited in group I and 10 patients in group II. The baseline demographic factors were comparable. The scores for PHQ-9 and GAD-7 were significantly higher at 3-month post-exenteration follow-up, indicating significantly higher levels of anxiety and depression after orbital exenteration in group I. Both these scores were significantly lower in group II compared to group I (3 months follow-up), indicating lower levels of anxiety and depression after rehabilitation with prosthesis. The FACT-G and its subscores were all significantly higher in group II patients compared to post-operative scores of group I patients, indicating higher overall quality of life after rehabilitation with prosthesis. CONCLUSIONS: Patients undergoing exenteration have a significant level of anxiety and depression, and lower quality of life that worsens after orbital exenteration.

Correlation of Levator-Muller's Complex Thickness on Ultrasound Biomicroscopy to Botulinum Toxin A Injection in Thyroid-Related Upper Eyelid Retraction.

OBJECTIVES: To study the thickness of levator palpebra superioris-Muller's muscle complex (LMC) on ultrasound biomicroscopy (UBM) and to correlate with the clinical response to botulinum toxin A (BTA) injection in patients with inactive-stage of thyroid-related upper eyelid retraction (UER). We also studied the correlation of clinical parameters, preinjection with postinjection values. METHODS: This was a prospective, interventional study. Patients with thyroid-related UER who underwent subconjunctival injection of BTA were recruited. Demographic data and clinical details were evaluated. UBM (50 MHz) was done to measure the thickness of LMC. Patient's satisfaction was graded at each follow-up. Follow-up was done at 1 week, 1 month, and 3 months' time intervals. RESULTS: A total of 13 patients were recruited and 26 eyes were divided into two groups; group 1 included eyes with UER (n = 17), and group 2 included eyes without UER (n = 9). There was a statistically significant reduction in margin reflex distance 1 (MRD1) after BTA injection at 1-week, 1-month, and 3-months follow-up with maximum reduction at 1 month. The mean LMC thickness of 26 eyes was 0.96 mm which was found to be significantly more than normal controls. On comparison of mean LMC thickness with the amount of UER and reduction in MRD1, we did not find a significant difference. CONCLUSIONS: Patients with TED have significantly thicker LMC on UBM than controls. Further studies are needed with a larger sample size on the correlation of UBM features of levator aponeurosis with response to BTA injection.

Autologous fat grafting for the correction of cicatricial ectropion.

BACKGROUND: Cicatricial ectropion can be corrected by invasive surgical modalities such as full-thickness skin graft, lateral tarsal strip procedure, etc., which are associated with donor site morbidity and additional scars. Use of autologous fat graft (AFG) in treatment of burn scars has previously shown encouraging clinical results as to skin color, texture, and softness. OBJECTIVE: We aim to introduce the use of AFG for the correction of mild to moderate grades of cicatricial ectropion of the lower eyelid in adult patients. METHODS: This was a prospective, interventional, non-comparative, pilot study including 5 patients with a cicatricial ectropion of grade I-III. All these patients underwent a pre-injection workup to assess anatomical outcomes (grade of ectropion, vertical palpebral aperture (VPA), lagophthalmos, and eyelid retraction), functional outcomes (dry eye status) and aesthetic outcome (change of scar color, thickness, pain, and consistency). RESULTS: At 6-months follow-up assessment, all patients had improvement in grade of ectropion, significant improvement in VPA and eyelid retraction, and almost complete resolution of lagophthalmos in all the three patients who had pre-injection lagophthalmos. There was a significant improvement in scar color, thickness and consistency on Visual Analogue Score (VAS) with no donor site or systemic complications after the procedure but mild pain on day 1 post-injection at the donor site CONCLUSION: AFG transfer of cicatricial ectropion not only eludes the need of a invasive surgery but provides satisfactory correction with stable outcome with an overall improvement in texture of the scar and has low risk.

Analysis of SARS-CoV-2 in Corneal Tissue of Deceased Asymptomatic Novel Coronavirus Disease 2019 Donors.

PURPOSE: The aim of this study was to analyze the presence of the SARS-CoV-2 virus in the corneal tissue of asymptomatic deceased novel coronavirus disease 2019 (COVID-19) patients. METHODS: This was a cross-sectional study performed at a tertiary eye hospital. All corneas of the deceased asymptomatic donors who tested positive for SARS-CoV-2 on a nasopharyngeal swab at the time of corneal tissue harvesting were included in the study. Histopathological examination and immunohistochemistry were performed. mRNA in situ hybridization for SARS-CoV-2 was performed in all specimens that showed positive immunostaining. The main outcome measure was the presence of SARS-CoV-2 virus in the corneal tissues. RESULTS: Twenty-two corneal tissues of 11 donors were analyzed. The mean age was 72.2 ± 14.2 years. On histological examination, no signs of inflammation or any other abnormalities were detected in the cornea and adjacent bulbar conjunctiva. Immunohistochemistry revealed faint to moderate cytoplasmic staining in the basal layer of the corneal epithelium in 8 specimens from 5 patients. None of the specimens with positive immunostaining showed the presence of SARS-CoV-2 mRNA. CONCLUSIONS: In line with previous studies , our study also reflects the absence of SARS-CoV-2 viral mRNA in corneal tissues of clinically asymptomatic deceased COVID-19 donors, thereby indicating a probable low risk of transmission of the SARS-CoV-2 virus through the transplantation of corneas from donors who tested positive for, but were asymptomatic for COVID-19. In addition, further studies on the subject should include histopathological examination because of the false positive and negative rates of molecular tests.

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.

Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous. The authors decided to perform a retrospective analysis of the clinical features of the patients who presented to a tertiary care hospital with orbito-cranial clefts. Methods: The authors retrospectively evaluated the records of patients with craniofacial clefts who had presented to a tertiary eye care hospital in northern India in the last 2 years (January 2019-December 2020). The clinical features were studied, entered in MS Excel, and the data were evaluated. Results: The data of 40 patients with Tessier cleft were found. The majority of the patients were male and presented in the pediatric age group. Unilateral involvement was more common, with maxillary hypoplasia being the most common facial anomaly associated. Eyelid coloboma and euryblepharon was the most common periocular finding; lateral epibulbar dermoid and corneal opacity were the most common ocular surface anomaly. The majority of patients had presented for cosmetic correction. The syndromic association was with Goldenhar syndrome (n = 13), Fraser (n = 2), and one each of Treacher Collins, blepharocheilodontic, organoid nevus, and oculo-dento-digital syndrome. Combined clefts were also seen. Conclusion: Tessier cleft classification is a useful tool to classify cranio-facial left anomalies. Multitudes of ocular and orbital anomalies can be associated with their different forms. Better knowledge and understanding of the classification will aid immensely in predicting the ocular defects and planning their management.

Clinical features and orbital anomalies in Fraser syndrome and a review of management options.

Purpose: Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report the clinical features and orbital anomalies in cases diagnosed with Fraser syndrome. Methods: The authors retrospectively evaluated the records of patients with Fraser syndrome who had presented to a tertiary eye care hospital in northern India in the last 2 years (from January 2019 to December 2020). The clinical features were studied, entered in MS Excel, and the data was evaluated. Results: Data of 15 patients with Fraser syndrome were found. Majority of the patients were males and presented in the pediatric age group. Bilateral involvement was more common, and the most common variant of cryptophthalmos was abortive. Complete and medial madarosis of the eyebrows was the most common periocular finding. Complete cryptophthalmos was associated with cystic globes, whereas abortive forms had superior symblepharon. Common systemic features included syndactyly, bifid nose, and urogenital anomaly. Conclusion: Fraser syndrome is an extremely rare developmental disorder; it encompasses a wide range of ocular, periocular, and orbital anomalies, along with multiple pre-existing systemic anomalies. The treating ophthalmologist should always be careful in examining these patients.

Experience on rhino-orbital mucormycosis from a tertiary care hospital in the first wave of COVID-19: An Indian perspective.

Background: To highlight the clinical presentations and management outcomes of rhino-orbital mucormycosis during first wave of COVID-19 pandemic in North India. Methods: A retrospective observational study. 15 patients with mucormycosis (orbital disease) who presented during short span of 3 months (October-December 2020) in a tertiary-care referral institution were analysed. Results: At presentation, 13 of 15 patients had uncontrolled diabetes. Four had history of COVID-19 infection. All patients had advanced orbital disease with sinusitis; cavernous sinus involvement was in nine and intracranial spread in three patients. Liposomal amphotericin-B was started and prompt orbital exenteration with sinus surgery was performed in 12 patients. All 12 patients survived with an average follow-up of 4.8 months. Conclusion: In the present series, cases with orbital spread of mucormycosis were mostly found in non-COVID uncontrolled diabetics. Exenteration was done in 80% of cases with advanced orbital disease. Prevention and early detection of infection at the stage of sino-nasal involvement might help to prevent spread and/or halt the orbital disease.