Genotype data not consistent with clonal transmission of sea turtle fibropapillomatosis or goldfish schwannoma

Recent discoveries of transmissible cancers in multiple bivalve species suggest that direct transmission of cancer cells within species may be more common than previously thought, particularly in aquatic environments. Fibropapillomatosis occurs with high prevalence in green sea turtles (Chelonia mydas) and the geographic range of disease has increased since fibropapillomatosis was first reported in this species. Widespread incidence of schwannomas, benign tumours of Schwann cell origin, reported in aquarium-bred goldfish (Carassius auratus), suggest an infectious aetiology. We investigated the hypothesis that cancers in these species arise by clonal transmission of cancer cells. Through analysis of polymorphic microsatellite alleles, we demonstrate concordance of host and tumour genotypes in diseased animals. These results imply that the tumours examined arose from independent oncogenic transformation of host tissue and were not clonally transmitted. Further, failure to experimentally transmit goldfish schwannoma via water exposure or inoculation suggest that this disease is unlikely to have an infectious aetiology.

AB0853 IGG4-RELATED DISEASE CAUSING OCULAR NERVE PALSIES AND ORBITAL APEX SYNDROME: CASE REPORT AND LITERATURE REVIEW

Background:IgG4-Related Disease (IgG4-RD) is a systemic immune-mediated fibroinflammatory condition. The epidemiology is not well defined: it usually affects adults from middle-age onwards, predominantly male. Both B and T-cells are central in IgG4-RD pathogenesis, as demonstrated by the efficacy of B-cell depletion therapy.IgG4-RD can affect multiple organs including the central and peripheral nervous system, producing a constellation of clinical symptoms and signs, depending on the organ structures involved.IgG4-related orbital disease is relatively rare can implicate all extra-ocular muscles, structures emerging from the Orbital apex, optic canal, or superior and inferior orbital fissure. Depending on the structures involved, it can produce different or sometimes subtle clinical presentations, posing diagnostic challenge. There were case reports of IgG4-related ophthalmic disease misdiagnosed as intraocular tumour.Objectives:IgG4-RD is increasingly recognised as an entity affecting the head and neck region. However, it rarely involves skull base and presents with orbital apex syndrome. In this current case report, we describe an interesting case of IgG-related orbital disease presenting with ocular nerve palsies and orbital apex syndrome.Methods:Case report.Results:A 36-year-old gentleman with cocaine and alcohol misuse presented with a 2-month history of left sided headache, diplopia, recurrent ear infections, otalgia and hearing loss. Initial imaging suggested left otomastoiditis and intravenous antibiotics were commenced. Contralateral partial third nerve palsy with pupil sparing was elicited. 2 months later, there was worsening right eye ptosis, proptosis, right relative afferent pupillary defect, reduced visual acuity and colour vision as well as a near-complete ophthalmoplegia. Subsequent imaging showed worsening soft tissue swelling centred on the upper left parapharyngeal and masticator space, with multiple perineural enhancement and lateral extension to right orbital apex and orbital fissures. Blood tests only revealed raised IgG4 subclass. Infectious aetiology was excluded. Left nasal mass biopsy performed showed no fungal organism or malignancy. There were lymphoplasmacytic proliferation but no storiform fibrosis or obliterative phlebitis. IgG4 immunostaining on two assessable fields revealed 22 and 17 positive plasma cells respectively, and an IgG4: IgG ratio of <10%, and 50% in the other. Significant improvement was seen clinically and radiologically with antibiotics and a tapering regime of oral Prednisolone. Patient was commenced on Azathioprine as long term immunosuppression.Conclusion:A high degree of clinical suspicion is necessary to diagnose IgG4-RD when presenting with orbital apex syndrome and ocular nerve palsies,IgG4-RD can mimic mastoiditis of infectious aetiology. Other differentials may include cocaine-induced midline destructive lesions and granulomatosis with polyangiitis. The diagnosis can be supported by elevated serum IgG, elevated IgG index and pathognomonic histopathological findings. . The diagnosis of IgG4-related orbital disease should be deliberated on by a multidisciplinary group, with every effort being made to exclude an infectious aetiology, before embarking on immunosuppressive therapy.Primary treatment is with steroids. However, immunotherapy using azathioprine can be utilised in recurrent disease or patients with steroid intolerance.References:[1]Goto H, Ueda S. Immunoglobulin G4-related ophthalmic disease involving the sclera misdiagnosed as intraocular tumor: report of one case. OculOncolPathol. 2016;2(4):285–8.[2]Ohyama K, Koike H, Iijima M, et al. IgG4-related neuropathy: a case report. JAMA Neurol. 2013;70(4):502–5.[3]AbdelRazek MA, Venna N, Stone JH. IgG4-related disease of the central and peripheral nervous systems. Lancet Neurol. 2018;17(2):183–92.[4]Kamekura R, Takahashi H, Ichimiya S. New insights into IgG4-related disease: emerging new CD4+ T-cell subsets. Curr Opin Rheumatol. 2019;31(1):9–15.Disclosure of Interests:None declared

Differentiation between infectious spondylodiscitis versus inflammatory or degenerative spinal changes: How can magnetic resonance imaging help the clinician?

Spondylodiscitis is a complex disease whose diagnosis and management are still challenging. The differentiation between infectious and non-infectious aetiology is mandatory to avoid delays in the treatment of life-threatening infectious conditions. Imaging methods, in particular magnetic resonance imaging (MRI), play a key role in differential diagnosis. MRI provides detailed anatomical information, especially regarding the epidural space and spinal cord, and may allow differential diagnosis by assessing the characteristics of certain infectious and inflammatory/degenerative lesions. In this article, we provide an overview of the radiological characteristics and differentiating features of non-infectious inflammatory spinal disorders and infectious spondylodiscitis, focussing on MRI results and presenting relevant clinical and pathological features that help early diagnosis.

Clinical spectrum, aetiology and predictors of acute febrile encephalopathy at a tertiary hospital in south India – A prospective observational study

Acute febrile encephalopathy is a common syndrome in the tropics with high mortality encountered by emergency physicians. In order to study the aetiology of acute febrile encephalopathy and its mortality and functional outcome over one year, data on all patients >18 years of age with short duration of fever (<14 days) and altered mental status were collected and followed up until one month after discharge. Non-infectious aetiology, found in 29%, portends a poor outcome.

Acute generalised exanthematous pustulosis associated with shock

A 23-year-old man with a history of end-stage renal disease was admitted to the hospital due to fever and shock, which occurred during his dialysis. One week prior, he developed an erythematous rash on his chest, face and back, associated with generalised eruption of pustules. In hospital, his status did not improve with norepinephrine and empirical broad-spectrum antibiotics. Following this, methylprednisolone was administered with remarkable improvement. Cultures revealed no infectious aetiology. Based on the morphology of the rash and a compatible skin biopsy, the diagnosis of acute generalised exanthematous pustulosis (AGEP) was established and considered the cause of his shock. The causative agent of his AGEP remained unknown. AGEP is a rare condition, most frequently associated with drug exposure. The removal of the offending agent is the treatment of choice. It can be complicated by shock in rare cases. In that scenario, systemic corticosteroids seem to improve outcomes greatly.

Managing pediatric haemophagocytic lymphohistiocytosis (HLH) in a resource limited setting-A 3 years experience

Hemophagocytic Lymphohistiocytosis (HLH) is a rare and fatal entity in children with fever, organomegaly, cytopenias, liver dysfunction and coagulopathy and does not respond to conventional therapies. It is categorized into two types: Primary (inherited) and Secondary (associated with infection, malignancy, autoimmune diseases, etc.). Prognosis of primary HLH is poor, whereas in secondary HLH outcome depends upon the underlying disease. This study is a retrospective analysis of case records of children admitted with a diagnosis of HLH from January 2016 to December 2019 in the Pediatrics department of a teaching hospital in Odisha, India. It describes the clinical features, laboratory findings, diagnosis, treatment and outcome of children with HLH.Thirteen children were diagnosed as HLH for 36 months in the age range from 1 month 11 days to 14 years. Fever and splenomegaly were present in 100% of cases while hepatomegaly in 69.2% and rash in 15.3% of cases. Anaemia, hyperferritinemia were detected in 100% whereas neutropenia in 76.9% and thrombocytopenia in 38.4%. Bone marrow aspiration was done in 7 patients out of whom 6 revealed haemophagocytosis. Serum fibrinogen was low in 8 cases. Out of 13 cases, 7 patients received corticosteroid, and 3 of them also received Cyclosporine along with Steroids. Two cases left against medical advice, 7 had infectious aetiology, and 3 cases were diagnosed as Systemic onset Juvenile Idiopathic arthritis (SoJIA). Seven patients required ICU care. Ten cases recovered, and one died as HLH is a rare entity and has a high chance of fatality early diagnosis and prompt therapy results in a better outcome.

Cervical lymphadenopathy of Togolese children in a tropical context: clinicopathological study

Our study describes the epidemiology and aetiology of cervical lymphadenopathy in children diagnosed between 2003 and 2017 at the pathology laboratory of Lomé, Togo. A total of 221 cases were collected. The average age of diagnosis of the study population was 9.8 ± 0.3 years and consisted of 118 (53.4%) boys. HIV was confirmed by indirect ELISA test in 69 (31.2%) cases. The cohort consisted of infections (n = 128, 57.9%), tumours (n = 85, 38.5%) and others (n = 8, 1.6%). The main infectious aetiology was tuberculosis (n = 84). Tumour aetiology consisted of 79 primary malignancies and three metastatic cases. Primary tumours consisted predominantly of lymphoma (n = 74), with Burkitt's lymphoma (n = 44) being the most common. Tuberculosis on a background of HIV infection remains the dominant cause of cervical lymphadenopathy in the tropical region of Togo.

An audit to study the diagnostic yield of lymph node biopsies under local anaesthesia

Background: Surgical referrals for lymph node biopsies are common, majority for diagnostic purposes. The indications and the diagnostic yield vary for different sites. We conducted an audit of the lymph node biopsies done over a period of seven months.Methods: The audit included 547 patients who underwent lymph node biopsies under local anesthesia in the department of general surgery over a seven-month period. Parameters such as overall diagnostic yield of lymph node biopsies, disease specific yield of lymph node biopsies with a primary focus on tuberculosis; site specific yield of lymph node biopsies and referral pattern for the request for lymph node biopsies were analysed.Results: 324 samples (59.2%) yielded a definite diagnosis, which included haematological malignancy 102 (31.5%), infectious diseases 131 (40.5%), and 59 (18.5%) malignancy. The diagnostic yield of supraclavicular lymph nodes was found to be highest (72.45%) and the axillary group the lowest (39.8%). The referral pattern seen was 314 (57.4%) from General medicine, 149 (27.2%) from General Surgery, and 84 (15.4%) from Haematology. 130 (23.8%) samples were tested for tuberculosis; the highest yield, acquired from the cervical group (52.8%), lowest from the inguinal region (4%).Conclusions: Our audit revealed significant diagnostic yield of lymph node biopsies from the supraclavicular region. Majority of them were of infectious aetiology and referred from General Medicine. This study supports the introduction of co-ordinated problem-based referral and management pathways for the management of patients with enlarged superficial lymph nodes, supported by regular audits of practice.

Vision loss in anterior uveitis

AimsTo evaluate the long-term risk of permanent vision loss in subjects with anterior uveitis.MethodsRetrospective study of subjects attending uveitis clinic at Auckland District Health Board and Moorfields Eye Hospital between 2008 and 2018. Main outcome measures were: best corrected visual acuity (BCVA); moderate vision loss (MVL ≤20/50); and severe vision loss (SVL ≤20/200).Results2526 eyes of 1814 subjects were included with a mean follow-up of 6.8 years (17 235.4 eye-years of follow-up). MVL occurred in 240 eyes (9.5%) during the follow-up period, of which 97 (3.8%) had permanent MVL due to uveitis. The incidence of permanent MVL due to uveitis was 0.006 per eye-year with a cumulative risk at 10 years of 6.6% (5.2%–8.4%). The most common cause of permanent MVL due to uveitis was uveitic glaucoma (31.3%), followed by cystoid macular oedema (27.1%) and corneal scar (21.9%). SVL occurred in 80 eyes (3.2%) during the follow-up period, of which 39 (1.5%) had permanent SVL due to uveitis. The incidence of permanent SVL due to uveitis was 0.002 per eye-year with a cumulative risk at 10 years of 2.6% (1.8%–3.7%). Multivariate analysis showed older age at presentation, chronic anterior uveitis (CAU), infectious aetiology and poor presenting BCVA were all risk factors for permanent MVL due to uveitis.ConclusionsAlthough vision loss is an uncommon complication in anterior uveitis, the risk is greatest in those with CAU, infectious aetiology and poor presenting BCVA. Uveitic glaucoma is the most common cause of vision loss.

Recent Trends and Changing Aetiology of Acute Encephalitis Syndrome in India

Acute Encephalitis Syndrome (AES) poses a great public health problem in India, occurring both in epidemics and sporadically. Although bacteria, viruses and protozoan parasites may cause encephalitis, among these; the viruses are the most common and important cause of encephalitis Japanese Encephalitis virus has been considered as leading cause of AES in India mostly occurs among children. Thus, the disease spectrum of AES seems to be much wider and may be caused by a wide variety of viruses, bacteria, protozoa, fungi, or may even be non-infectious in aetiology. Recently, increased incidence of scrub typhus is being reported from Northern India especially eastern part of Uttar Pradesh and western part of Bihar, as reported 25% infectious aetiology in one third of the AES cases and emergence of O. tsutsugamushi infection an important causative agent of AES in India. A recent outbreak of "AES" in June 2019 was found in Muzaffarpur, Bihar India. As reported the Muzaffarpur district has initiated an investigation into the case of 672 children who were admitted with "AES" and more than 150 children have died. Case fatality rate among children due to JE was found very low now because changing aetiology of AES across various districts of Bihar.