scholarly journals Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Sidra Ibad ◽  
Carl S. Wilkins ◽  
Alexander Pinhas ◽  
Vincent Sun ◽  
Matthew S. Wieder ◽  
...  
Keyword(s):  
Genetic Defect ◽  
Subretinal Fluid ◽  
Vitreous Hemorrhage ◽  
Symptomatic Improvement ◽  
Acute Onset ◽  
Fiber Layer ◽  
Retinal Tears ◽  
History Of ◽  
Atypical Presentations ◽  
Intraretinal Hemorrhages

Purpose. To report a rare case of spontaneous vitreous and intraretinal hemorrhage in a patient with juvenile X-linked retinoschisis which was managed conservatively. Methods. Single patient case report. Introduction. Juvenile X-linked retinoschisis (JXLR) most often occurs as a result of a genetic defect in the retinoschisin (RS1) gene, causing a separation between the ganglion cell layer and the nerve fiber layer. Spontaneous vitreous hemorrhage has been reported as an uncommon secondary consequence of JXLR. We present a case of spontaneous vitreous and diffuse macular intraretinal hemorrhages in a patient with JXLR which resolved with medical management alone. Results. A 23-year-old man with a history of juvenile X-linked retinoschisis presented to the ophthalmic emergency room complaining of acute onset of floaters in his right eye. On examination, the patient was found to have a new vitreous hemorrhage with diffuse intraretinal hemorrhages in his right eye, without new retinal tears or detachment. SD-OCT demonstrated multifocal pockets of subretinal fluid. The genetic testing panel revealed a hemizygous mutation in the RS-1 gene. He was managed conservatively on oral acetazolamide, with the resolution of the subretinal fluid and with both visual and symptomatic improvement. Conclusions. Spontaneous vitreous hemorrhage may rarely occur in patients with JXLR, even in the absence of acute retinal tear or detachment. This case demonstrates an atypical presentation of vitreous hemorrhage with diffuse intraretinal hemorrhage and new multifocal areas of subretinal fluid which improved without surgical intervention. Good outcomes may be achieved in these patients with conservative management alone, even in atypical presentations.

An audit and insights from clinical exome sequencing in psychiatry: genotype-phenotype correlation

2020 ◽  
Author(s):  
Jayant Mahadevan ◽  
Reeteka Sud ◽  
Ravi Kumar Nadella ◽  
Vani P ◽  
Anand G Subramaniam ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Psychiatric Symptoms ◽  
Pathogenic Variant ◽  
Clinical Exome Sequencing ◽  
Mapt Gene ◽  
Nf1 Gene ◽  
Novel Variant ◽  
History Of ◽  
Atypical Presentations ◽  
Minor Physical Anomalies

BACKGROUND:Psychiatric syndromes have polymorphic symptomatology, and are known to be heritable. Psychiatric symptoms (and even syndromes) often occur as part of the clinical presentation in rare Mendelian syndromes. Clinical exome sequencing reports may help with refining diagnosis and influence treatment decisions, in addition to providing a window into the biology of brain and behaviour. We describe a clinical audit of 12 individuals who sought treatment at our hospital, and for whom targeted sequencing was ordered. Three cases are discussed in detail to demonstrate correlations between genotype and phenotype in the clinic.METHODS:Targeted Next-Generation Sequencing (NGS) was done using Clinical Exome Panel (TruSight One, Illumina) covering coding exons and flanking intronic sequences of 4811 genes associated with known inherited diseases. Variants detected were classified according to the American College for Medical Genetics (ACMG) recommendation for standards of interpretation and reporting of sequence variations.RESULTS:Ten out of twelve cases had at least one pathogenic variant. In one of these cases, we detected a known pathogenic variant in MAPT gene in a suspected FTD case, which helped us to confirm the diagnosis. In another case, we detected a novel variant predicted to be deleterious in NF1 gene. Identification of this mutation suggested a change in treatment for the patient, that was of benefit. The same patient also harboured a novel variant in the TRIO gene. This gene may be involved in biological processes that underlie the patient’s psychiatric illness.CONCLUSIONS:The cases discussed here exemplify different scenarios under which targeted exome sequencing can find meaningful application in the clinic: confirming diagnosis (MAPT variant), or modifying treatment (NF1). We suggest that clinical exome sequencing can be a helpful addition to a clinician’s toolkit when there are expediting factors to consider— such as early-onset, strong family history of mental illness, complex/atypical presentations and minor physical anomalies or neurocutaneous markers.

Omental Infarction: A Case Treated with Laparoscopic Surgery

2019 ◽  
pp. 1-3
Author(s):  
Bertrand Ng ◽  
Arafat Yasser
Keyword(s):  
Diabetes Mellitus ◽  
Laparoscopic Surgery ◽  
Hospital Stay ◽  
Acute Cholecystitis ◽  
Inflammatory Markers ◽  
Acute Onset ◽  
Laparoscopy Surgery ◽  
History Of ◽  
Background History ◽  
The Right

Omental infarct is a rare cause of an acute abdomen that arises from an interruption of blood supply to the omentum. Here, we present a case of omental infarct in a 67-year-old gentleman with background history of diabetes mellitus who present unusually with a severe acute onset right hypochondrium pain. Examination revealed that he was tender to touch at the right and was having localized guarding. His inflammatory markers were normal. He was successfully treated with laparoscopy surgery and he was subsequently discharged the following day. Omental infarct cases with right hypochondrium pain can sometimes mimicked acute cholecystitis and management includes laparoscopic surgery which can hasten symptoms resolution and reduces hospital stay, however recommendation for surgery has to be balanced with anesthetics risk and complication of the surgery itself.

scholarly journals L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 682
Author(s):  
Matthias Christen ◽  
Nils Janzen ◽  
Anne Fraser ◽  
Adrian C. Sewell ◽  
Vidhya Jagannathan ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Genetic Defect ◽  
Clinical Signs ◽  
Missense Variant ◽  
Microcytic Anemia ◽  
Abnormal Behavior ◽  
Functional Candidate Gene ◽  
History Of ◽  
The Brain ◽  
Hydroxyglutaric Acid

A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study was to investigate the clinical signs, metabolic changes and underlying genetic defect. The owner of the cat reported a 4-month history of multiple paroxysmal seizure-like episodes, characterized by running around the house, often in circles, with abnormal behavior, bumping into obstacles, salivating and often urinating. The episodes were followed by a period of disorientation and inappetence. Neurological examination revealed an absent bilateral menace response. Routine blood work revealed mild microcytic anemia but biochemistry, ammonia, lactate and pre- and post-prandial bile acids were unremarkable. MRI of the brain identified multifocal, bilaterally symmetrical and T2-weighted hyperintensities within the prosencephalon, mesencephalon and metencephalon, primarily affecting the grey matter. Urinary organic acids identified highly increased levels of L-2-hydroxyglutaric acid. The cat was treated with the anticonvulsants levetiracetam and phenobarbitone and has been seizure-free for 16 months. We sequenced the genome of the affected cat and compared the data to 48 control genomes. L2HGDH, coding for L-2-hydroxyglutarate dehydrogenase, was investigated as the top functional candidate gene. This search revealed a single private protein-changing variant in the affected cat. The identified homozygous variant, XM_023255678.1:c.1301A>G, is predicted to result in an amino acid change in the L2HGDH protein, XP_023111446.1:p.His434Arg. The available clinical and biochemical data together with current knowledge about L2HGDH variants and their functional impact in humans and dogs allow us to classify the p.His434Arg variant as a causative variant for the observed neurological signs in this cat.

Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma

2021 ◽  
pp. 112067212199268
Author(s):  
Jorge Fernández-Engroba ◽  
Muhsen Saman ◽  
Jeroni Nadal
Keyword(s):  
Visual Acuity ◽  
Retinal Detachment ◽  
Optic Disc ◽  
Subretinal Fluid ◽  
Visual Outcome ◽  
Internal Limiting Membrane ◽  
Subretinal Space ◽  
Direct Closure ◽  
Retinal Tears ◽  
Optic Disc Coloboma

Purpose: To report our anatomical outcome with the internal limiting membrane (ILM) graft procedure in the management of rhegmatogenous retinal detachment (RRD) secondary to optic disc coloboma (ODC). Methods: Description of a new surgical procedure in one eye of one patient who underwent pars plana vitrectomy (PPV) combined with ILM graft technique. Subsequent follow-up included optical coherence tomography (OCT) and visual acuity. Results: After only 1 week, the OCT revealed the ILM graft plugging the retinal tear with complete resorption of subretinal fluid. The sealing effect of this graft persisted after 6 months. However, visual outcome was poor and corrected distance visual acuity was 20/200 as a result of the previous long-standing retinal detachment with loss of photoreceptors. Conclusion: We suggest that ILM graft could be performed as a first line treatment in the management of RRD secondary to ODC. This direct closure of the retinal tears, allows a quick and effective interruption of the communication between the subretinal space and the vitreous cavity. Detecting these retinal tears and applying this technique as soon as possible could achieve not only an earlier anatomical success but obtain good visual results in retinal tears with RRD secondary to ODC. Further studies will be necessary to provide more evidences

Young Male with Bilateral ICA Dissection: Beyond CADISS Trial

2021 ◽  
pp. 251660852098428
Author(s):  
Vikas Bhatia ◽  
Chirag Jain ◽  
Sucharita Ray ◽  
jay Kumar
Keyword(s):  
Management Strategies ◽  
Young Male ◽  
Acute Onset ◽  
The Body ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Stroke Study ◽  
History Of

Objective: To report a case of young male with stroke and bilateral internal carotid artery (ICA) dissection. Background: Cervical Artery Dissection in Stroke Study trial has provided some insight on management of patients with ICA dissection. However, there is a need to modify the management strategies as per specific clinical scenario. Design/Methods: Case report and literature review. Results: A 45-year-old male presented with 1 month old history of acute onset numbness of right half of the body with slurring of speech. Computed tomography angiography showed complete occlusion of left cervical ICA just beyond origin with presence of fusiform dilatation and spiral flap in right extracranial cervical ICA. The patient was started on antiplatelets and taken for endovascular procedure using 2-mesh-based carotid stents. Patient was discharged after 3 days on antiplatelet therapy. At 1-year follow-up, there were no fresh symptoms. Conclusion: This case emphasizes the role of successful endovascular management of carotid dissection in a young male. These clinical situations may not be fully represented in trials, and a case-based approach is required.

scholarly journals En face image-based classification of diabetic macular edema using swept source optical coherence tomography

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Atsushi Fujiwara ◽  
Yuki Kanzaki ◽  
Shuhei Kimura ◽  
Mio Hosokawa ◽  
Yusuke Shiode ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Macular Edema ◽  
Diabetic Macular Edema ◽  
Outer Nuclear Layer ◽  
Subretinal Fluid ◽  
Plexiform Layer ◽  
Optical Coherence ◽  
Fiber Layer ◽  
Swept Source ◽  
En Face

AbstractThis retrospective study was performed to classify diabetic macular edema (DME) based on the localization and area of the fluid and to investigate the relationship of the classification with visual acuity (VA). The fluid was visualized using en face optical coherence tomography (OCT) images constructed using swept-source OCT. A total of 128 eyes with DME were included. The retina was segmented into: Segment 1, mainly comprising the inner nuclear layer and outer plexiform layer, including Henle’s fiber layer; and Segment 2, mainly comprising the outer nuclear layer. DME was classified as: foveal cystoid space at Segment 1 and no fluid at Segment 2 (n = 24), parafoveal cystoid space at Segment 1 and no fluid at Segment 2 (n = 25), parafoveal cystoid space at Segment 1 and diffuse fluid at Segment 2 (n = 16), diffuse fluid at both segments (n = 37), and diffuse fluid at both segments with subretinal fluid (n = 26). Eyes with diffuse fluid at Segment 2 showed significantly poorer VA, higher ellipsoid zone disruption rates, and greater central subfield thickness than did those without fluid at Segment 2 (P < 0.001 for all). These results indicate the importance of the localization and area of the fluid for VA in DME.

scholarly journals 451. Evaluation of Exposure History in Healthcare Personnel with Coronavirus 2019 Disease

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S293-S293
Author(s):  
Sandra Silva ◽  
Thriveen Mana ◽  
Davinder Bhullar ◽  
Beatrice Tabor ◽  
Curtis Donskey
Keyword(s):  
High Risk ◽  
Risk Exposure ◽  
Healthcare Personnel ◽  
Administrative Personnel ◽  
Asymptomatic Carriage ◽  
Moderate Disease ◽  
Control And Prevention ◽  
History Of ◽  
Exposure History ◽  
Atypical Presentations

Abstract Background During the Coronavirus Disease 2019 (COVID-19) pandemic, many healthcare personnel (HCP) have developed COVID-19. However, there is uncertainty regarding whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was acquired at work versus in the community. Methods We conducted a cohort study to examine exposure history of personnel with COVID-19 infection or asymptomatic carriage in a VA healthcare system. High-risk exposures were classified based Centers for Disease Control and Prevention criteria. Results Of 578 personnel tested, 49 (8%) had nasopharyngeal swabs with positive PCR results, including 45 (92%) with and 4 (8%) without COVID-19 symptoms. Of the 49 cases, 21 (43%) had a documented high-risk exposure at work, including 14 exposures to COVID-19 patients and 7 exposures to colonized or infected personnel. Exposures to infected patients most often were a result of delays in recognition of COVID-19 due to atypical presentations. Exposures to personnel with COVID-19 most often involved activities such as meals when facemasks were not worn. Most cases occurred among nurses (26, 53%) and administrative personnel (10, 20%); only 3 physicians developed COVID-19. No cases occurred in personnel working on COVID-19 wards. All personnel had mild or moderate disease. Conclusion Forty-three percent of healthcare personnel with COVID-19 had prior high-risk exposures at work. Improved detection of patients with atypical presentations and efforts to reduce high-risk contacts among personnel may reduce the risk for acquisition of SARS-CoV-2. Disclosures All Authors: No reported disclosures

Acute exudative paraneoplastic polymorphous vitelliform maculopathy in a patient with thymoma, myasthenia gravis, and polymyositis

2021 ◽  
pp. 112067212199404
Author(s):  
He Yu ◽  
Xinyu Ma ◽  
Nianting Tong ◽  
Zhanyu Zhou ◽  
Yu Zhang
Keyword(s):  
Myasthenia Gravis ◽  
Medical Center ◽  
Postoperative Radiotherapy ◽  
Clinical Manifestations ◽  
Subretinal Fluid ◽  
Metastatic Tumor ◽  
The Body ◽  
Pleural Thickening ◽  
History Of ◽  
Clinically Significant

Importance: This is the first reported case of acute exudative paraneoplastic polymorphous vitelliform maculopathy (AEPPVM) in a patient with thymoma, accompanied by myasthenia gravis (MG) and polymyositis. Objective: To examine the pathogenesis of ocular disease in a patient with yolk-like fundus lesions and thymoma, MG, and polymyositis throughout the body based on clinical manifestations, diagnosis, differential diagnosis, and genetic testing to determine the appropriate treatment course. Design, setting, and participants: We describe a 63-year-old woman who presented to our tertiary medical center with a 3-month history of reduced visual acuity in both eyes. Concurrent fundoscopy revealed a 2.0 × 1.7-mm, unifocal, yellow, round vitelliform lesion in the macular region, surrounded by multifocal, shallow, yellow-white pockets of subretinal fluid. The patient’s medical history included thymoma with thymectomy treatment, combined with pericardiectomy and postoperative radiotherapy (20 years prior), followed by a diagnosis of MG with suspect thymic association (15 years prior). Three years prior, the patient had been diagnosed with polymyositis related to paraneoplastic syndrome; 1 year prior, she had been examined for pleural thickening due to suspected metastatic tumor. Results: On her most recent follow-up visit at 3 months after initial diagnosis, the patient was stable with no clinically significant progression in ocular or systemic conditions.

scholarly journals A Rare Case of Spontaneous Arachnoid Cyst Rupture Presenting as Right Hemiplegia and Expressive Aphasia in a Pediatric Patient

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 78
Author(s):  
Anne Bryden ◽  
Natalie Majors ◽  
Vinay Puri ◽  
Thomas Moriarty
Keyword(s):  
Cognitive Processing ◽  
Arachnoid Cyst ◽  
Memory Loss ◽  
Acute Onset ◽  
Word Finding ◽  
Outpatient Visits ◽  
The Family ◽  
History Of ◽  
Cyst Rupture ◽  
The Brain

This study examines an 11-year-old boy with a known history of a large previously asymptomatic arachnoid cyst (AC) presenting with acute onset of right facial droop, hemiplegia, and expressive aphasia. Shortly after arrival to the emergency department, the patient exhibited complete resolution of right-sided hemiplegia but developed headache and had persistent word-finding difficulties. Prior to symptom onset while in class at school, there was an absence of reported jerking movements, headache, photophobia, fever, or trauma. At the time of neurology consultation, the physical exam showed mildly delayed cognitive processing but was otherwise unremarkable. The patient underwent MRI scanning of the brain, which revealed left convexity subdural hematohygroma and perirolandic cortex edema resulting from ruptured left frontoparietal AC. He was evaluated by neurosurgery and managed expectantly. He recovered uneventfully and was discharged two days after presentation remaining asymptomatic on subsequent outpatient visits. The family express concerns regarding increased anxiety and mild memory loss since hospitalization.

scholarly journals The implications of subretinal fluid in pachychoroid neovasculopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Geun Woo Lee ◽  
Hyeon Cheol Roh ◽  
Se Woong Kang ◽  
A. Young Kim ◽  
Hoon Noh ◽  
...  
Keyword(s):  
Central Serous Chorioretinopathy ◽  
Polypoidal Choroidal Vasculopathy ◽  
Multimodal Imaging ◽  
Optical Coherence Tomography Angiography ◽  
Subretinal Fluid ◽  
Longitudinal Changes ◽  
History Of ◽  
Pachychoroid Neovasculopathy ◽  
Choroidal Vasculopathy ◽  
Epidemiological Parameters

AbstractThis study aimed to identify the clinical characteristics and longitudinal changes in exudative pachychoroid neovasculopathy (PNV) and non-exudative PNV. This retrospective cohort study involved 81 eyes of PNV diagnosed by multimodal imaging including optical coherence tomography angiography. At baseline, they were divided into exudative PNV group and non-exudative PNV group depending on the presence of subretinal fluid. The clinical features of both groups and the longitudinal changes were investigated and compared. There were 55 eyes with non-exudative PNV and 26 eyes with exudative PNV. Individuals with non-exudative PNV were older, more frequently asymptomatic and had a higher prevalence of polypoidal choroidal vasculopathy in the opposite eye (all P’s < 0.05). Whereas individuals with exudative PNV showed thicker choroid and more frequent history of central serous chorioretinopathy (all P’s < 0.001). During about 12 months of longitudinal observation, the transformation into polypoidal choroidal vasculopathy was noted in 4 eyes of non-exudative PNV group, whereas in none of the exudative PNV group. Exudative PNV and non-exudative PNV seem to be separate entities with different epidemiological parameters. Non-exudative PNV, which is frequently found without symptoms at an older age, is suspected to be the significant precursor lesion of polypoidal choroidal vasculopathy. In contrast, exudative PNV may share the same pathophysiology as central serous chorioretinopathy.

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