Pediatric Anisometropia: Case Series and Review

2020 ◽  
pp. 32-56
Keyword(s):  
Vision Loss ◽  
Age Of Onset ◽  
Case Reports ◽  
Clinical Care ◽  
Case Series ◽  
Visual Outcome ◽  
Response To Treatment ◽  
Home Based ◽  
Poor Treatment Outcome ◽  
Vision Therapy

Background: The etiology and natural course and history of pediatric anisometropia are incompletely understood. This article reviews the literature regarding pediatric anisometropia with much of the review integrated into a case series. The review and case reports are intended to elevate clinical understanding of pediatric anisometropia including and especially treatment outcomes. Case Reports: Case one is anisomyopia with amblyopia that resulted in a poor treatment outcome despite outstanding compliance with prescribed spectacles, vision therapy, and occlusion. Case two is anisometropia caused by organic vision loss from optic neuritis early in life. Case three is an infant with hyperopic anisometropia and esotropia. The esotropia did not respond to spectacles and home based vision therapy. Neonatal high bilateral hyperopia that converted to anisometropia because of early onset cosmetically invisible unilateral esotropia is speculated. Case four describes a boy diagnosed with hyperopic anisometropia at age 11 months coincident with a diagnosis of pseudoesotropia. His compliance with prescribed spectacles was spotty until age three years. An outstanding visual outcome was achieved by age five years with spectacles only (no occlusion therapy). Case five concerns a boy who acquired hyperopic anisometropia because one eye experienced increasing hyperopia during his toddler years. His response to treatment, spectacles and part time occlusion with home vision therapy, was outstanding. Case six is an infant diagnosed with 2.50 diopters of hyperopic anisometropia at age six months. Monocular home based vison developmental activities, not glasses, were prescribed. Her anisometropia vanished three months later. Conclusions: Pediatric anisometropia presents and responds to treatment in a variety of ways that challenge clinical care. Etiology and age of onset, which usually elude clinicians, can explain this variety. Additional research is required to improve clinical outcomes.

A Combined Approach of Syntonic Phototherapy along with Vision Therapy in Treatment of Rod-Cone Dystrophy: A Ray of Hope - Case Series Report

2021 ◽  
pp. 254-268
Keyword(s):  
Vision Loss ◽  
Peripheral Vision ◽  
Case Reports ◽  
Combined Treatment ◽  
Case Series ◽  
Cone Dystrophy ◽  
Combined Approach ◽  
Case Series Report ◽  
Surgical Treatments ◽  
Vision Therapy

Background: Rod-Cone Dystrophies (RCDs) are characterized by the dominant clinical features of rods manifestation predominantly over the cones such as night blindness and peripheral vision worsening that leads to restricted activities of daily living. There are no medical or surgical treatments available for this disease. A combined approach of syntonic phototherapy along with the vision therapy may be a viable treatment option for the improvement in visual efficiency skills and visual function of RCD patients. Case Reports: Case 1: A female, aged 47 years old, diagnosed with severe RCD and complained of poor sight and difficulty in seeing at night in both eyes along with progressive diminution of vision for the past ten years. Case 2: A boy, 11 years of age, diagnosed with severe RCD and presented with major complaints of progressive vision loss, photophobia and falling short in school performance. Both patients were recommended for a combined treatment approach of syntonic phototherapy combined with vision therapy to be completed in our centre. Conclusion: These two patients showed significant improvement in visual acuity, oculomotor motility and visual field. Further research is recommended to enrich our understanding on the use of syntonic phototherapy along with vision therapy in managing patients with RCD which otherwise lacks in specific medical or surgical treatment.

scholarly journals Post-Infectious Guillain–Barré Syndrome Related to SARS-CoV-2 Infection: A Systematic Review

Life ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 167
Author(s):  
Pasquale Sansone ◽  
Luca Gregorio Giaccari ◽  
Caterina Aurilio ◽  
Francesco Coppolino ◽  
Valentina Esposito ◽  
...  
Keyword(s):  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Guillain Barre Syndrome ◽  
Response To Treatment ◽  
Comprehensive Overview ◽  
Fisher Syndrome ◽  
Immunomodulating Therapy ◽  
Guillain Barré Syndrome ◽  
Guillain Barré

Background. Guillain-Barré syndrome (GBS) is the most common cause of flaccid paralysis, with about 100,000 people developing the disorder every year worldwide. Recently, the incidence of GBS has increased during the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) epidemics. We reviewed the literature to give a comprehensive overview of the demographic characteristics, clinical features, diagnostic investigations, and outcome of SARS-CoV-2-related GBS patients. Methods. Embase, MEDLINE, Google Scholar, and Cochrane Central Trials Register were systematically searched on 24 September 2020 for studies reporting on GBS secondary to COVID-19. Results. We identified 63 articles; we included 32 studies in our review. A total of 41 GBS cases with a confirmed or probable COVID-19 infection were reported: 26 of them were single case reports and 6 case series. Published studies on SARS-CoV-2-related GBS typically report a classic sensorimotor type of GBS often with a demyelinating electrophysiological subtype. Miller Fisher syndrome was reported in a quarter of the cases. In 78.1% of the cases, the response to immunomodulating therapy is favourable. The disease course is frequently severe and about one-third of the patients with SARS-CoV-2-associated GBS requires mechanical ventilation and Intensive Care Unit (ICU) admission. Rarely the outcome is poor or even fatal (10.8% of the cases). Conclusion. Clinical presentation, course, response to treatment, and outcome are similar in SARS-CoV-2-associated GBS and GBS due to other triggers.

scholarly journals ‘Failure’ of laser prophylaxis in an eye with stickler syndrome

2021 ◽  
Vol 11 (4) ◽  
pp. 110-111
Author(s):  
Michael P Blair
Keyword(s):  
Vision Loss ◽  
Clinical Course ◽  
Case Reports ◽  
Visual Outcome ◽  
Stickler Syndrome ◽  
Connective Tissue Disorders ◽  
Macular Function ◽  
Giant Retinal Tear ◽  
Case Summary

Background: Stickler syndrome is one of the most common inherited connective tissue disorders and is an important cause of pediatric vision loss due to a high risk of retinal detachment in these patients. Methods: Case report. Case summary: This case reports describes the clinical course of a 10 year old boy with Sticklers Syndrome who underwent bilateral peripheral laser prophylaxis. During routine follow up, he was found to have an asymptomatic giant retinal tear (GRT) with limited sub-retinal fluid expansion due to prior prophylactic laser. He underwent surgery with vitrectomy and scleral buckle with vision remaining at 20/25 at 6 month follow up. Conclusion: Although the utility of laser prophylaxis in Stickler patients is debated, this case demonstrates that after laser prophylaxis, even if GRT develops, expansion can be limited. Laser prophylaxis along with frequent examinations, can prevent development of PVR and complex detachments and preserve macular function with excellent visual outcome.

scholarly journals B.04 Distal and asymmetric myasthenia gravis: a case series of 54 patients

2016 ◽  
Vol 43 (S2) ◽  
pp. S10-S10
Author(s):  
AG Florendo-Cumbermack ◽  
MW Nicolle
Keyword(s):  
Myasthenia Gravis ◽  
Clinical Course ◽  
Case Reports ◽  
Delayed Diagnosis ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Individual Case ◽  
Response To Treatment ◽  
Antibody Testing ◽  
Repetitive Nerve Stimulation

Background: Distal/asymmetric presentations of myasthenia gravis (MG) are uncommon and occur in 3-7% of patients with MG. This pattern of weakness is often not recognized as a manifestation of MG, leading to inappropriate investigations, delayed diagnosis and potentially missed opportunities for treatment. Our knowledge about this atypical presentation is limited to small case series and individual case reports. This study therefore aims to expand our understanding by describing the clinical course, diagnosis and treatment of a larger series of patients with this presentation. Methods: We conducted a retrospective chart review of patients with definite MG (either acetylcholine receptor [AChR] or MuSK antibody positive or clear evidence of postsynaptic neuromuscular junction dysfunction on electrodiagnostic studies), who attended the MG Clinic in London. Details of the clinical course, electrodiagnostic studies, antibody testing and response to treatment are reported. Results: 5.9% (54/921) of patients with definite MG had distal/asymmetric limb involvement, 56% at onset and 4% developing more than 10 years later. Males predominated (2:1). Finger extensors were most affected. 83% were AChR antibody positive. 7% had thymomas. On repetitive nerve stimulation most patients showed the most significant decrement distally on the more affected side. Almost all patients improved with treatment. Conclusions: This study expands our understanding of distal/asymmetric presentations of MG.

Olfactory reference syndrome: a systematic review of the world literature

2010 ◽  
Vol 41 (3) ◽  
pp. 453-461 ◽  
Author(s):  
M. Begum ◽  
P. J. McKenna
Keyword(s):  
Systematic Review ◽  
Diagnostic Criteria ◽  
World Literature ◽  
Age Of Onset ◽  
Case Reports ◽  
Response To Treatment ◽  
Psychiatric Syndrome ◽  
The World ◽  
Current Classification

BackgroundThe nosological status of olfactory reference syndrome (ORS) is a matter of debate and there is uncertainty as to what treatments are effective.MethodThe world literature was searched for reports of cases of ORS. Clinical, nosological and therapeutic information from cases meeting proposed diagnostic criteria for the disorder was summarized and tabulated.ResultsA total of 84 case reports (52 male/32 female) were found. Age of onset was <20 years in almost 60% of cases. Smell-related precipitating events were recorded in 42%. Most patients could not smell the smell or only did so intermittently. Authors of the reports expressed reservations about the delusional nature of the belief in slightly under half of the cases. Over two-thirds were improved or recovered at follow-up, with the disorder responding to antidepressants and psychotherapy more frequently than to neuroleptics.ConclusionsORS is a primary psychiatric syndrome that does not fit well into its current classification as a subtype of delusional disorder, both in terms of its nosology and its response to treatment.

scholarly journals MON-196 A Single-Center Experience of Patients with Metastatic Pheochromocytoma/Paraganglioma Treated with 177Lu-DOTATATE

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Anna Roslyakova ◽  
Dmitry Beltsevich ◽  
Michail Plotkin ◽  
Pavel Rumyantsev ◽  
Daria Ladygina
Keyword(s):  
Overall Survival ◽  
Survival Rate ◽  
Chromogranin A ◽  
Clinical Symptoms ◽  
Case Reports ◽  
Clinical Care ◽  
Case Series ◽  
Peptide Receptor Radionuclide Therapy ◽  
Optimal Strategies ◽  
Metastatic Progression

Abstract The prevalence of metastatic pheochromocytoma/paraganglioma (PPGL) is reported to be 3% to 36% of all the cases. The five-year overall survival rate of such patients ranges from 40 to 77%. The management of metastatic PPGL is challenging taking into account the fact that the optimal strategies for clinical care beyond surgical resection are not guided yet. Peptide receptor radionuclide therapy (PRRT) using somatostatin analogues is effective in other neuroendocrine tumours, can be indicated in patients with positive scans for the respective radiopharmaceuticals. We report preliminary data of the prospective study aimed to assess the safety and efficacy outcomes of 177Lu-DOTATATE for 6 patients with histologically confirmed PPGLs with metastatic progression after the complete PPGL surgery. The mean age of our cohort was 53 years (range 14–73); an equal number of male and female patients was included. Two of them had germline mutations in RET and SDHB genes, respectively. Radiological response utilized RECIST 1.1 criteria; toxicity was graded according to common terminology criteria for adverse events version 4. PPRT scheme varied between three and four cycles. Partial response (PR) was achieved in one and stable disease (SD) in four 4 patients. One patient had treatment refractory with disease progression and dramatic increase of chromogranin A concentration (+268%). Biochemical response (&gt;50% decrease) of chromogranin A was found in 1/6 patients and of catecholamines in 2/6 patients. No hematological or kidney toxicity grade 3–4 was registered. Median overall survival and median progression-free survival rate will be reported after the end of the study. To date, about 250 PPGL patients have been treated with PRRT. PRRT using 177Lu-DOTA-SSAs has shown promise for treatment of PPGLs with improvement of clinical symptoms and/or disease control in the setting of retrospective small case reports or case series. However, more well-designed prospective studies are required to confirm these findings.

BYNOCS®1 – A Cloud-Based Indigenous Tele-Health Vision Therapy Software for the Assessment and Management of Binocular Vision Disorders

2020 ◽  
pp. 243-251
Keyword(s):  
Visual Acuity ◽  
Binocular Vision ◽  
Case Reports ◽  
Case Series ◽  
Strabismus Surgery ◽  
Care Practice ◽  
Digital Era ◽  
Vision Assessment ◽  
User Friendly ◽  
Vision Therapy

Background: Binocular vision assessment is an integral part of an eye and vision care practice. With the need for a user friendly, simplified, and comprehensive tool especially in this digital era, we propose a new indigenous cloudbased software, Bynocs.® This manuscript describes the technical details, the functioning of this indigenous software, and a case series demonstrating the application and efficacy of Bynocs® as a tele-health vision therapy tool. All the three cases were handled remotely through the Bynocs tele-health vision therapy platform. Case Reports: Case 1: This is a case of symptomatic convergence insufficiency who had prior compliance issues with a conventional vision therapy approach. With 10 sessions of Bynocs vision therapy focused on improving convergence amplitudes, the patient showed significant improvements in both subjective and objective parameters. Case 2: This case is of a 12 year old child with residual anisometropic amblyopia who had excellent compliance with patching therapy for 3 years but visual acuity had plateaued over the last 6 months. After 20 sessions of Dichoptic amblyopia therapy, best-corrected visual acuity (BCVA) improved by 3 log MAR lines, with improvements in stereoacuity to 100 sec of arc. Case 3: This case of a 10 year old child with residual exophoria after strabismus surgery was referred for managing the residual deviation and associated visual complaints. The child had 20/20 visual acuity in both eyes and 10 prism diopters of residual exophoria at distance and near. After 30 sessions of vision therapy, improvements in fusional vergence amplitudes was achieved along with the deviation restoring to orthophoria at both distance and near, with further improvements in stereoacuity from 400 sec of arc to 120 sec of arc. Conclusions: As tele-health is finding favor across the globe, Bynocs® can be a valuable tele-health vision therapy tool for in the management of binocular vision anomalies and amblyopia with the functionality for remote diagnosis and therapy.

111 Epileptic seizures in multiple sclerosis

2018 ◽  
Vol 89 (6) ◽  
pp. A44.1-A44
Author(s):  
Stephen Walsh ◽  
Joel Corbett ◽  
K Meng Tan ◽  
Simon Broadley
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Age Of Onset ◽  
Case Reports ◽  
Case Series ◽  
Clinical Information ◽  
Epileptic Seizures ◽  
Disease Course ◽  
Number Of Patients ◽  
Significant Difference

IntroductionEpileptic seizures have been described in association with multiple sclerosis (MS) in both anecdotal case reports and case series. The recent identification of specific antibodies to myelin oligodendrocyte glycoprotein (MOG) protein in a small number of patients with demyelinating disease which may resemble neuromyelitis optica or acute disseminated encephalopathy, which may involve seizures, raises the possibility that anti-MOG antibody related demyelination may account for the association of epilepsy with MS.MethodsWe have undertaken a retrospective review of cases of MS diagnosed at the Gold Coast MS clinic over a 10 year period. All cases were systematically asked if they had ever had an epileptic seizure either via a patient completed questionnaire or at a clinic visit. Demographic and clinical information were also recorded. These data have been analysed using descriptive statistics and appropriate tests for significant differences between those with epilepsy and those without.Results428 cases with complete data were identified. Those with a history of epilepsy were slightly younger (median (range); 44.5 (27–64) years vs 4715–88 years), but this difference was not statistically significantly different. The gender ratio was the same for both groups (9/12 (75%) for those with epilepsy and 326/416 (78%)). There was no significant difference in age of onset, disease course, relapse frequency or level of disability. Although numbers are small, seizure appear to occur most frequently earlier in the disease course and are rarely an ongoing issue.ConclusionThese data support earlier work indicating that epilepsy occurs in people with MS who are younger. This fits with the notion that seizures arise in the context of the inflammatory stage of multiple sclerosis rather than the degenerative phase. Further work needs to be undertaken to assess any association with anti-MOG antibodies and epileptic seizures in demyelinating disease.

scholarly journals The patient safety practices of emergency medical teams in disaster zones: a systematic analysis

2019 ◽  
Vol 4 (6) ◽  
pp. e001889
Author(s):  
Ussamah El-khani ◽  
Hutan Ashrafian ◽  
Shahnawaz Rasheed ◽  
Harald Veen ◽  
Ammar Darwish ◽  
...  
Keyword(s):  
Patient Safety ◽  
Improve Patient Safety ◽  
Case Reports ◽  
Clinical Care ◽  
Grey Literature ◽  
Case Series ◽  
Quality Data ◽  
Safety Practices ◽  
Emergency Medical ◽  
Medical Teams

IntroductionDisaster zone medical relief has been criticised for poor quality care, lack of standardisation and accountability. Traditional patient safety practices of emergency medical teams (EMTs) in disaster zones were not well understood. Improving the quality of healthcare in disaster zones has gained importance within global health policy. Ascertaining patient safety practices of EMTs in disaster zones may identify areas of practice that can be improved.MethodsA systematic search of OvidSP, Embase and Medline databases; key journals of interest; key grey literature texts; the databases of the WHO, Médecins Sans Frontieres and the International Committee of the Red Cross; and Google Scholar was performed. Descriptive studies, case reports, case series, prospective trials and opinion pieces were included with no limitation on date or language of publication.ResultsThere were 9685 records, evenly distributed between the peer-reviewed and grey literature. Of these, 30 studies and 9 grey literature texts met the inclusion criteria and underwent qualitative synthesis. From these articles, 302 patient safety statements were extracted. Thematic analysis categorised these statements into 84 themes (total frequency 632). The most frequent themes were limb injury (9%), medical records (5.4%), surgery decision-making (4.6%), medicines safety (4.4%) and protocol (4.4%).ConclusionPatient safety practices of EMTs in disaster zones are weighted toward acute clinical care, particularly surgery. The management of non-communicable disease is under-represented. There is widespread recognition of the need to improve medical record-keeping. High-quality data and institutional level patient safety practices are lacking. There is no consensus on disaster zone-specific performance indicators. These deficiencies represent opportunities to improve patient safety in disaster zones.

scholarly journals Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

2021 ◽  
pp. jnnp-2020-325014
Author(s):  
Stephanie R Shepheard ◽  
Matthew D Parker ◽  
Johnathan Cooper-Knock ◽  
Nick S Verber ◽  
Lee Tuddenham ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Age Of Onset ◽  
Clinical Care ◽  
Case Series ◽  
Pathogenic Mutation ◽  
Gene Panel ◽  
Targeted Sequencing ◽  
Genetic Sequencing ◽  
Variant Of Uncertain Significance ◽  
Lateral Sclerosis

ObjectiveThe clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis (ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 ALS-relevant genes would have a significant impact on disease subclassification and clinical care.MethodsWe performed targeted sequencing of a 44-gene panel in a prospective case series of 100 patients with ALS recruited consecutively from the Sheffield Motor Neuron Disorders Clinic, UK. All participants were diagnosed with ALS by a specialist Consultant Neurologist. 7/100 patients had familial ALS, but the majority were apparently sporadic cases.Results21% of patients with ALS carried a confirmed pathogenic or likely pathogenic mutation, of whom 93% had no family history of ALS. 15% met the inclusion criteria for a current ALS genetic-therapy trial. 5/21 patients with a pathogenic mutation had an additional variant of uncertain significance (VUS). An additional 21% of patients with ALS carried a VUS in an ALS-associated gene. Overall, 13% of patients carried more than one genetic variant (pathogenic or VUS). Patients with ALS carrying two variants developed disease at a significantly earlier age compared with patients with a single variant (median age of onset=56 vs 60 years, p=0.0074).ConclusionsRoutine screening for ALS-associated pathogenic mutations in a specialised ALS referral clinic will impact clinical care in 21% of cases. An additional 21% of patients have variants in the ALS gene panel currently of unconfirmed significance after removing non-specific or predicted benign variants. Overall, variants within known ALS-linked genes are of potential clinical importance in 42% of patients.

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