Spontaneous ipsilateral subconjunctival hemorrhage and the related risk factors

The aim of the report is to assess the risk factors among patients with spontaneous ipsilateral subconjunctival hemorrhage (SCH) who presented to the outpatients’ department in General Hospital of Veria, Veria, Greece. Thirty-five patients with SCH participated in the study. A thorough case history was taken and a full ophthalmic examination was performed to identify the risk factors related to the clinical finding. The common hematological parameters associated with the coagulation profile of each patient were evaluated. With the exception of SCH, the ophthalmic examination was normal in all patients. Identified risk factors include history of systemic hypertension (21 patients [60%], mean systolic value: 170 mmHg±15 mmHg), strenuous exercise [19 patients (54%)] and minor ocular trauma [5 patients (14%)]. Other risk factors [each in 2 patients (6%)] included: diabetes mellitus, smoking, severe cough, straining at stool, and weight lifting. Seven patients (20%) were under medication related to bleeding diathesis. The values of the blood coagulation parameters were within the normal limits in all patients. Twenty-nine patients (83%) had elevated blood pressure during the ophthalmological examination. Our study provides documentation regarding the potential risk factors associated with SCH. It is interesting to observe the high incidence of hypertension among the patients with SCH. Therefore, it is highly recommended that the blood pressure be checked in all patients with SCH and that the patients be referred to a general practitioner for further management if indicated

Unilateral Optic Disc Edema in a Paediatric Patient: Diagnostic Dilemmas and Management

Introduction. We report a case of unilateral optic disc edema in a paediatric patient and discuss the concerns involved in diagnosis and management of similar cases. Materials and Methods. Female aged 10 years was referred to our clinic due to progressive visual loss of the LE over a few days. Her visual acuities (VA) were RE 10/10, LE 3/10, and she had a relative afferent pupillary defect and decreased colour vision in her LE and normal and painless eye movements. Fundoscopy showed a remarkably swollen disc of the LE, and visual field (VF) examination revealed enlargement of the blind spot and presence of horizontal inferior papillomacular scotoma. Neurological examination, CT of brain and orbits and blood tests were normal. Visual evoked potentials revealed an obstacle in the myelin substance before the optic chiasma of the LE. Results. The patient was treated with intravenous methylprednoslone for 3 days and with oral methylprednizole for 15 days in progressively diminished daily doses. This led to gradual improvement of VA, colour vision, and visual field and resolution of optic disc oedema. Discussion. Concerns that have to be taken into account regarding diagnosis and management of similar cases are related to lumbar puncture indications, treatment with corticosteroids, and appropriate followup

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Peer reviewed: TrueAcknowledgements: The study was supported by the National Institute for Health Research England (NIHR) for the NIHR BioResource project (grant number RG65966). We thank NIHR BioResource volunteers for their participation, and gratefully acknowledge NIHR BioResource Centres, NHS Trusts and staff for their contribution. We thank the National Institute for Health and Care Research, NHS Blood and Transplant, and Health Data Research UK as part of the Digital Innovation Hub Programme. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. We acknowledge Julie Leary and Cherida Watkins (NWLH) for their assistance with recruitment and administrative support. This study also makes use of data generated by the UK10K Consortium, derived from samples from ALSPAC; a full list of the investigators who contributed to the generation of this data is available from www.UK10K.org. Funding for the UK10K was provided by the Wellcome Trust under award WT091310.BackgroundThe Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown.MethodsWhole exome sequencing (WES) was undertaken on 174 EDS patients recruited from a national diagnostic service for complex EDS and a specialist clinic for hEDS. Patients had already undergone expert phenotyping, laboratory investigation and gene sequencing, but were without a genetic diagnosis. Filtered WES data were reviewed for genes underlying Mendelian disorders and loci reported in EDS linkage, transcriptome and genome-wide association studies (GWAS). A genetic burden analysis (Minor Allele Frequency (MAF) &lt;0.05) incorporating 248 Avon Longitudinal Study of Parents and Children (ALSPAC) controls sequenced as part of the UK10K study was undertaken using TASER methodology.ResultsHeterozygous pathogenic (P) or likely pathogenic (LP) variants were identified in known EDS and Loeys-Dietz (LDS) genes. Multiple variants of uncertain significance where segregation and functional analysis may enable reclassification were found in genes associated with EDS, LDS, heritable thoracic aortic disease (HTAD), Mendelian disorders with EDS symptomatology and syndromes with EDS-like features. Genetic burden analysis revealed a number of novel loci, although none reached the threshold for genome-wide significance. Variants with biological plausibility were found in genes and pathways not currently associated with EDS or HTAD.ConclusionsWe demonstrate the clinical utility of large panel-based sequencing and WES for patients with complex EDS in distinguishing rare EDS subtypes, LDS and related syndromes. Although many of the P and LP variants reported in this cohort would be identified with current panel testing, they were not at the time of this study, highlighting the use of extended panels and WES as a clinical tool for complex EDS. Our results are consistent with the complex genetic architecture of EDS and suggest a number of novel hEDS and HTAD candidate genes and pathways.</jats:sec