P38 Never say never: new onset uveitis in adolescence

Rheumatology ◽  
2019 ◽  
Vol 58 (Supplement_4) ◽  
Author(s):  
Imogen Kelly ◽  
Joyce Davidson ◽  
Mary Brennan ◽  
Mary MacRae ◽  
Julie Duncan
Keyword(s):  
Disease Control ◽  
Conflicts Of Interest ◽  
Age At Onset ◽  
Low Grade ◽  
Eye Drops ◽  
Biologic Treatment ◽  
Steroid Injections ◽  
Eye Screening ◽  
History Of ◽  
New Onset

Abstract Background To highlight the importance of considering new onset uveitis in adolescent patients with longstanding juvenile idiopathic arthritis (JIA). Methods We performed a retrospective review of electronic medical records. Results A 16 year-old girl was diagnosed in 2004, aged 15 months with extended oligoarticular JIA (ANA positive, >1/640 homogeneous). Her initial treatment included intra-articular steroid injections and approximately eighteen months later methotrexate, which she remained on for four years. During this time she received occasional intra-articular steroid injections. Etanercept was added in 2009 due to persistent active disease and she continued on this treatment regime for the next five years. Methotrexate was discontinued in 2013 due to intolerance. Etanercept was discontinued in 2014 due to disease remission but was restarted after three months when her arthritis flared. In 2018 biologic treatment was changed due to poor disease control. Etanercept was switched to adalimumab, initially alternate weeks but increasing to weekly together with multiple joint injections. Six months later, her disease control remained poor and drug levels and antibodies were measured. She had a strongly positive anti-drug antibody level>200 AU/ml and her adalimumab level was <0.4mgs/L (normal range 5-10). At this time our patient now aged 16 presented with a four-week history of intermittent reduced vision in her right eye. Ophthalmology review found bilateral anterior uveitis. This patient had regular eye screening from her JIA diagnosis until her 11th birthday, showing no previous evidence of uveitis. Following diagnosis of uveitis she was commenced on steroid eye drops and IV methylprednisolone to treat both her uveitis and arthritis. Infliximab, (6mg/kg) was commenced then increased (10mg/kg) for ongoing uveitis and methotrexate was restarted. Despite this treatment she has persistent low grade right uveitis. Her left eye has settled and she has no lens opacities or raised intraocular pressures. She continues with joint discomfort secondary to her hypermobility but her arthritis is currently quiescent. Conclusion Type of arthritis and age at onset historically dictated the risk of developing uveitis. However uveitis can present in any age group and in patients with any type of JIA. In our case uveitis developed for the first time almost 15years after diagnosis. With disease modifying treatments now widely used early in the management of JIA, uveitis may be masked and therefore present late or atypically. It is rare for uveitis to present so long after diagnosis, however this case highlights that rheumatology teams should be aware that it can still develop. Therefore we should never say never! Conflicts of Interest The authors declare no conflicts of interest.

Primary acquired melanosis (PAM) without atypia/WHO low-grade conjunctival melanocytic intraepithelial lesion over areas of oculodermal melanocytosis

2020 ◽  
Vol 13 (10) ◽  
pp. e236741
Author(s):  
Bashar M Bata ◽  
Sachin M Salvi ◽  
Hardeep Singh Mudhar
Keyword(s):  
Bulbar Conjunctiva ◽  
Low Grade ◽  
Primary Acquired Melanosis ◽  
Conjunctival Biopsy ◽  
History Of ◽  
Intraepithelial Lesion ◽  
The Relationship ◽  
Oculodermal Melanocytosis ◽  
Substantia Propria ◽  
New Onset

An elderly white man with a history of left oculodermal melanocytosis presented with new onset brown pigmentation of the left bulbar and inferior tarsal conjunctiva. The bulbar conjunctival pigmentation was at the level of the conjunctival epithelium and was overlying areas of typical slate-grey scleral pigmentation characteristic of oculodermal melanocytosis. Both areas of new pigmentation were biopsied. The bulbar conjunctiva revealed primary acquired melanosis (PAM) without atypia with increased melanin production and the tarsal conjunctival biopsy showed PAM without atypia sine pigmentio overlying areas of substantia propria spindle-shaped heavily pigmented melanocytes of oculodermal melanocytosis. The case report examines the relationship between the epithelial and substantia propria melanocytes and correlates the findings with what is known about this association from the dermatopathology literature.

Suspicious, Non-MDS-Diagnostic Bone Marrows Have a High Incidence of Clonal Hematopoiesis (CHIP), with MDS-like Clone Size but Restricted Mutation Burden

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 1668-1668 ◽  
Author(s):  
Brooke Snetsinger ◽  
Emily Heath ◽  
Michael J. Rauh
Keyword(s):  
Natural History ◽  
Median Survival ◽  
Conflicts Of Interest ◽  
Normal Karyotype ◽  
Wilcoxon Test ◽  
Low Grade ◽  
Clone Size ◽  
Clonal Hematopoiesis ◽  
History Of ◽  
Mutation Profiling

Abstract Introduction: When investigations for myelodysplastic syndrome (MDS) reveal sub-threshold dysplasia and a normal karyotype, patients may be labeled with equivocal/suspicious/idiopathic cytopenia or dysplasia, discharged and lost to follow-up, or subjected to serial bone marrow investigations and diagnostic delays. Although not part of the current WHO classification, targeted somatic mutation profiling increases clonality detection in MDS and clonal hematopoiesis of indeterminate potential (CHIP). Hypothesis: The application of targeted DNA sequencing to suspicious MDS cases may improve diagnostic yield, inform the natural history of MDS-like CHIP, and shift the paradigm to earlier intervention. Methods: With IRB approval, frozen BM mononuclear cells or air-dried smears were obtained from Kingston General & Sunnybrook Hospitals. These included: a) 16 age-matched controls (8 negative lymphoma staging; 8 non-MDS cytopenia), b) 18 BM suspicious for MDS, c) 20 diagnosed MDS & d) 16 MDS/MPN. Genomic DNA was subjected to mutation profiling of 589 coding regions in 48 recurrently-mutated genes using a 1,662-amplicon Ion Torrent sequencing panel at Queen's University (QGLO). Variant calling was performed with Ion Reporter v4.6 (Life Technologies) & Integrative Genomics Viewer (Broad Institute). Selected variants were confirmed by PCR/Sanger-sequencing. Statistical analysis was conducted using Prism GraphPad software. Results: Clinical characteristics of suspicious MDS: Compared to age-matched controls (n=16), suspicious MDS cases (n=18) were associated with significantly reduced mean hemoglobin (119.6 ± 3.7 vs 96.0 ± 3.1 g/l; p<0.0001), platelet count (227.8 ± 20.2 vs 157.9 ± 25.5; p=0.04), & increased MCV (88.1 ± 1.6 vs 97.0 ± 2.2 fl; p=0.003). No significant differences were detected for these parameters between suspicious MDS & diagnosed MDS (n=20). Mutation profiles: We found suspected mutations in 14/18 (78%) of suspicious cases, 17/20 (85%) of MDS & 16/16 (100%) of MDS/MPN. While the mean number of mutations per suspicious patient (1.33 ± 0.3; most commonly in SF3B1, TET2, DNMT3A and ASXL1) was significantly lower than MDS (2.15 ± 0.3; p=0.03) & MDS/MPN (3.75 ± 0.4; p<0.0001), there were no significant differences in the average variant allele frequencies (VAF): suspicious 42%, MDS 41%, MDS/MPN 41%. These results suggested that CHIP is common in suspicious MDS cases, with similar clonal size but lesser mutational burden than diagnosed MDS. CHIP in control subjects and suspicious cases: CHIP was also detectable in 31% of control marrows (5/16) drawn from negative lymphoma staging & non-MDS cytopenia, albeit with significantly lower mutational and clonal burdens than suspicious MDS (0.31 ± 0.12 mutations/patient, p=0.002; 23 ± 0.1% avg. VAF, p=0.049). Among control & suspicious cases, CHIP (n=19) was associated with a 13.3 g/l reduction in mean hemoglobin (p=0.03). SRSF2, SETPB1, CBL & PTNPN11 mutations were statistically absent or under-represented in CHIP (as compared to MDS+MDS/MPN), with similar trends for EZH2, RUNX1, & TP53 mutations. CHIP versus low-grade MDS: Importantly, given the diagnostic uncertainty between CHIP & low blast count, normal karyotype MDS (i.e. hinges on the presence of 10% dysplasia), we next stratified our control/suspicious & diagnostic low-grade MDS cases by the presence or absence of detectable mutations. The control/suspicious group (n=34) included 19 patients with & 15 patients without mutations; low-grade MDS (n=12) included 9 mutant & 3 non-mutant. Ignoring whether 10% subjective dysplasia was present in this cohort, using Kaplan-Meier analysis we found the presence of a mutation was associated with reduced median survival (677 days, n=28) versus the absence of a mutation (median survival undefined, n=18) (p=0.045 by Gehan-Breslow-Wilcoxon test). Conclusions: CHIP is commonly detected in suspicious but non-MDS-diagnostic cases (78%). While the average clone size (42% VAF) is indistinguishable from MDS & MDS/MPN, CHIP-positive suspicious marrows have a reduced & more restricted mutation profile. CHIP is associated with increased anemia & worse outcome. These findings suggest clinical utility for mutation profiling in suspicious MDS cases & call for larger prospective studies of the natural history of MDS-like CHIP. Disclosures No relevant conflicts of interest to declare.

scholarly journals P47 Successful treatment of two cases of refractory JIA uveitis with intravenous tocilizumab and subcutaneous methotrexate

Rheumatology ◽  
2019 ◽  
Vol 58 (Supplement_4) ◽  
Author(s):  
Vanessa Raimondo ◽  
Conrad Schmoll ◽  
Imogen Kelly ◽  
Mary Brennan ◽  
Joyce Davidson
Keyword(s):  
Disease Control ◽  
Conflicts Of Interest ◽  
Treatment Options ◽  
Topical Steroid ◽  
Oral Prednisolone ◽  
Venous Access ◽  
Additional Treatment ◽  
Topical Steroids ◽  
Eye Drops ◽  
Good Disease Control

Abstract Background There is a need for additional treatment options in refractory JIA uveitis which has responded inadequately to MTX and anti TNFα. There has been interest in the use of tocilizumab, the APTITUDE trial using SC tocilizumab in JIA uveitis and the STOP-Uveitis study comparing 2 dosing regimens of iv tocilizumab in adults. Anecdotal evidence reports JIA uveitis patients who were stable on IV tocilizumab flaring when switched to sc administration. We describe the successful use of IV tocilizumab and concurrent sc MTX in two cases. Methods Retrospective review of patient paper and electronic medical records. Results Case 1.: A five-year-old female presented with severe anterior uveitis in her right eye. She was diagnosed with idiopathic uveitis and treated with topical steroid, oral then SC MTX infliximab, mycophenolate and adalimumab, all with inadequate control of her uveitis. At the age of 12, on adalimumab, she developed arthritis and her diagnosis was changed to JIA uveitis. 7 years after initial diagnosis she was commenced on IV tocilizumab 8mgs/kg 4-weekly with improved control of her uveitis although initially still requiring some topical steroid. She required intra-articular steroids for active arthritis and agreed to restart SC MTX. On tocilizumab and MTX combined, her arthritis settled and her topical eye drops were weaned for the first time since diagnosis. From age 5 until 14 she was continually on topical steroids, consequently developing raised intraocular pressure and a dense cataract. With improved disease control she had cataract surgery aged 14. She has maintained good disease control for the last five years on the combination of IV tocilizumab and SC MTX and has not required any further steroids. Case 2: A 3 year old female with oligoarticular JIA had severe bilateral uveitis at presentation. Initial treatment was with oral prednisolone, topical steroid and SC MTX. 6 months after diagnosis her uveitis remained active and she was commenced on infliximab with additional IV methylprednisolone. Venous access was challenging, required a portacath to facilitate treatment. By the age of 6 she had developed a cataract requiring surgery and still had incomplete control of her uveitis. Infliximab was increased to 10mgs/kg 4 weekly with little further benefit and at the age of 7 she was changed to adalimumab. On this she developed macular oedema requiring pulse IV methylprednisolone. 5 years after diagnosis she was commenced on IV tocilizimab initially 4 weekly, increasing after three months to 2 weekly. Her methylprednisolone was weaned and she has subsequently maintained good disease control on IV tocilizumab 10mgs/kg 2 weekly with SC methotrexate. Conclusion We describe two cases of refractory JIA and uveitis in whom IV tocilizumab with SC methotrexate has provided good disease control. Further studies are required to determine the optimal dosing regimen. Conflicts of Interest The authors declare no conflicts of interest.

Seizures following surgery for supratentorial extratemporal low-grade tumors in children: a multicenter retrospective study

2020 ◽  
Vol 26 (1) ◽  
pp. 27-33
Author(s):  
Jonathan Roth ◽  
Or Bercovich ◽  
Ashton Roach ◽  
Francesco T. Mangano ◽  
Arvind C. Mohan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Brain Tumors ◽  
Seizure Control ◽  
Seizure Activity ◽  
Refractory Epilepsy ◽  
Low Grade ◽  
Refractory Seizures ◽  
Low Rate ◽  
Over Time ◽  
New Onset

OBJECTIVEResection of brain tumors may lead to new-onset seizures but may also reduce seizure rates in patients presenting with seizures. Seizures are seen at presentation in about 24% of patients with brain tumors. For lesional epilepsy in general, early resection is associated with improved seizure control. However, the literature is limited regarding the occurrence of new-onset postoperative seizures, or rates of seizure control in those presenting with seizures, following resections of extratemporal low-grade gliomas (LGGs) in children.METHODSData were collected retrospectively from 4 large tertiary centers for children (< 18 years of age) who underwent resection of a supratentorial extratemporal (STET) LGG. The patients were divided into 4 groups based on preoperative seizure history: no seizures, up to 2 seizures, more than 2 seizures, and uncontrolled or refractory epilepsy. The authors analyzed the postoperative occurrence of seizures and the need for antiepileptic drugs (AEDs) over time for the various subgroups.RESULTSThe study included 98 children. Thirty patients had no preoperative seizures, 18 had up to 2, 16 had more than 2, and 34 had refractory or uncontrolled epilepsy. The risk for future seizures was higher if the patient had seizures within 1 month of surgery. The risk for new-onset seizures among patients with no seizures prior to surgery was low. The rate of seizures decreased over time for children with uncontrolled or refractory seizures. The need for AEDs was higher in the more active preoperative seizure groups; however, it decreased with time.CONCLUSIONSThe resection of STET LGGs in children is associated with a low rate of postoperative new-onset epilepsy. For children with preoperative seizures, even with uncontrolled epilepsy, most have a significant improvement in the seizure activity, and many may be weaned off their AEDs.

scholarly journals THU0597 CORNEAL MELT - DON’T ALWAYS BLAME RHEUMATOID ARTHRITIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 540.3-540
Author(s):  
A. Munir ◽  
C. Sheehy
Keyword(s):  
Rheumatoid Arthritis ◽  
Renal Biopsy ◽  
Systemic Vasculitis ◽  
Lower Lobe ◽  
Visual Outcome ◽  
Eye Drops ◽  
Poor Visual Outcome ◽  
Methyl Prednisolone ◽  
History Of ◽  
And Function

Background:Corneal melt is a rare inflammatory disease of the peripheral cornea; it may lead to perforation of the globe and visual failure. Corneal melt can be a manifestation of systemic vasculitis in patients with RA and other conditions, such as cancer. Without early and aggressive treatment it may be associated with a poor visual outcome and a high mortality. It has been reported in patients with stable RA.Objectives:A case report in a patient with long standing but well controlled Rheumatoid Arthritis (RA) and metastatic disease.Methods:A 75 year old male with a background of sero positive Rheumatoid Arthritis for more than 10 years presented to the Eye Casualty with a two week history of a painful left red eye. His other medical history was significant for Stage IIB poorly differentiated cancer of the left lower lobe. Left lower lobectomy with a patch of diaphragm resected. Intratumoural lymphovascular invasion noted. He completed Adjuvant Carboplatin/Vinorelbine chemotherapy September, 2017. He had DVT proximal left leg 22ndof September, 2017. Follow up CT in 2018 demonstrated a right renal upper pole lesion for which he was awaiting biopsy with?metastatic lung disease vs primary renal carcinoma. His RA was well controlled on Methotrexate 10mg weekly. He had been treated by the ophthalmology team for left marginal Keratitis for the prior 2 months with steroid eye drops without significant improvement. On presentation to ED, he described sharp eye pain, waking him from the sleep, associated with watery discharge and photophobia. Examination showed corneal melt in left eye involving 25% of inferior portion of the cornea and spastic entropion with injecting eye lashes. He had no active joints and there were no other signs of vasculitis. CRP was 4.1. He had a negative ANA and ANCA; viral swabs were negative. He was admitted under the medical team. Intravenous Methyl Prednisolone was started. The patient felt better after 5 days of Methyl Prednisolone. Left temporary tarsorrhaphy was done by Ophthalmology. Cyclophosphamide was initiated after discussion with Oncologist pending the result of the renal biopsy. Patient was discharged after 5 days of admission in the hospitalResults:The renal biopsy was positive for metastatic Squamous cell carcinoma of lung. Cyclophosphamide was withdrawn and he was started on Carboplatin/Gemcitabine. The corneal melt improved with complete resolution of his visual symptoms.Conclusion:In this case, although the history of RA was felt by the ophthalmology team to be the most likely association with the corneal melt, we would argue the oncological diagnoses were likely the driving force behind the presentation.References:[1]Sule A, Balakrishnan C, Gaitonde S, Mittal G, Pathan E, Gokhale NS, et al. Rheumatoid corneal melt. Rheumatology (Oxford)2002;41:705–6.[2]S. Yano, K. Kondo, M. Yamaguchi et al., “Distribution and function of EGFR in human tissue and the effect of EGFR tyrosine kinase inhibition,” Anticancer Research, vol. 23, no. 5, pp. 3639–3650, 2003.Disclosure of Interests:None declared

scholarly journals High level of fatty liver index predicts new onset of diabetes mellitus during a 10-year period in healthy subjects

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yukimura Higashiura ◽  
Masato Furuhashi ◽  
Marenao Tanaka ◽  
Satoko Takahashi ◽  
Masayuki Koyama ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Fatty Liver ◽  
Male And Female ◽  
Nonalcoholic Fatty Liver ◽  
Liver Index ◽  
Fatty Liver Index ◽  
History Of ◽  
Onset Of Diabetes ◽  
High Level ◽  
New Onset

AbstractFatty liver index (FLI), a predictor of nonalcoholic fatty liver disease, has been reported to be associated with several metabolic disorders. This study aimed to evaluate the relationship between FLI and new onset of diabetes mellitus (DM). We investigated the association of FLI with new onset of DM during a 10-year period in subjects who received annual health examinations (n = 28,990). After exclusion of subjects with DM at baseline and those with missing data, a total of 12,290 subjects (male/female: 7925/4365) who received health examinations were recruited. FLI was significantly higher in males than in females. During the 10-year period, DM was developed in 533 males (6.7%) and 128 females (2.9%). Multivariable Cox proportional hazard models with a restricted cubic spline showed that the risk of new onset of DM increased with a higher FLI at baseline in both sexes after adjustment of age, fasting plasma glucose, habits of alcohol drinking and current smoking, family history of DM and diagnosis of hypertension and dyslipidemia at baseline. When the subjects were divided into subgroups according to tertiles of FLI level at baseline (T1–T3) in the absence and presence of impaired fasting glucose (IFG), hazard ratios after adjustment of the confounders gradually increased from T1 to T3 and from the absence to presence of IFG in both male and female subjects. In conclusion, a high level of FLI predicts new onset of DM in a general population of both male and female individuals.

Factors associated with borderline personality disorder in major depressive patients and their relationship to bipolarity

2013 ◽  
Vol 28 (8) ◽  
pp. 463-468 ◽  
Author(s):  
J.M. Azorin ◽  
A. Kaladjian ◽  
M. Adida ◽  
E. Fakra ◽  
R. Belzeaux ◽  
...  
Keyword(s):  
Borderline Personality Disorder ◽  
Personality Disorder ◽  
Age At Onset ◽  
Borderline Personality ◽  
First Episode ◽  
Contributory Factor ◽  
Structured Interviews ◽  
Major Depressive ◽  
History Of ◽  
Depressive Patients

AbstractObjectiveTo analyze the interface between borderline personality disorder (BPD) and bipolarity in depressed patients comorbid with BPD.MethodsAs part of National Multi-site Study of 493 consecutive DSM-IV major depressive patients evaluated in at least two semi-structured interviews 1 month apart, 19 (3.9%) had comorbid BPD (BPD+), whereas 474 (96.1%) did not manifest this comorbidity (BPD−).ResultsCompared to BPD (−), BPD (+) patients displayed higher rates of bipolar (BP) disorders and temperaments, an earlier age at onset with a family history of affective illness, more comorbidity, more stressors before the first episode which was more often depressive or mixed, as well as a greater number and severity of affective episodes.ConclusionsThe hypothesis which fitted at best our findings was to consider BPD as a contributory factor in the development of BP disorder, which could have favoured the progression from unipolar major depression to BP disorder. We could not however exclude that some features of BP disorder may have contributed to the development of BPD.

Sentinel for Health: A History of the Centers for Disease Control

1994 ◽  
Vol 24 (4) ◽  
pp. 755
Author(s):  
John Duffy ◽  
Elizabeth W. Etheridge
Keyword(s):  
Disease Control ◽  
History Of ◽  
Centers For Disease Control

Solitary Paraganglioma of the Hypoglossal Nerve: Case Report

Neurosurgery ◽  
2011 ◽  
Vol 68 (4) ◽  
pp. E1170-E1174 ◽  
Author(s):  
Kazim Raza ◽  
Chandrasekaran Kaliaperumal ◽  
Michael Farrell ◽  
John A. O'Dwyer ◽  
Christopher Pidgeon
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Hypoglossal Nerve ◽  
Jugular Foramen ◽  
Low Grade ◽  
Resonance Imaging ◽  
Stereotactic Radiation ◽  
Hypoglossal Canal ◽  
Suboccipital Craniotomy ◽  
History Of

Abstract BACKGROUND AND IMPORTANCE: We report the case history of solitary hypoglossal paraganglioma in a 64-year-old woman. The surgical difficulties encountered in the removal of this challenging tumor are discussed and as a literature review provided. CLINICAL PRESENTATION: A 64-year-old woman presented with a short history of dysphonia, occasional dysphagia, tinnitus, altered taste, and unilateral left-sided tongue wasting. On examination, there was left lower motor hypoglossal paralysis. Imaging showed a discrete enhancing lobulated mass, measuring 2 × 2 cm, in the region of the hypoglossal nerve extending into the hypoglossal canal suggestive of hypoglossal paraganglioma. A left dorsolateral suboccipital craniotomy was performed with the patient in the sitting position. The hypoglossal nerve appeared to be enlarged, and the jugular foramen was normal. Complete surgical debulking of the tumor was not attempted because of its vascular nature. The nerve was decompressed, and neuropathology confirmed a low-grade paraganglioma arising from the hypoglossal nerve. The patient was scheduled to receive stereotactic radiation for further management. CONCLUSION: When a case of solitary hypoglossal paraganglioma is encountered in clinical practice, the aim of management should be mainly focused on achieving a diagnosis and preserving the hypoglossal nerve function. If there is evidence of vascularity in the lesion noted on magnetic resonance imaging, a preoperative angiogram should be obtained with a view for embolization. We decompressed the hypoglossal canal and achieved good improvement in the patient's symptoms. We recommend stereotactic radiosurgery for remnant and small hypoglossal tumors and regular follow-up with magnetic resonance imaging scans.

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