Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 28-year-old female prostitute, intravenous drug user, seropositive for human immunodeficiency virus and with unusual manifestations of lues infection. The presence of plantar keratoderma, alopecia of the scalp, total loss of hair eyebrows and eyelashes with bilateral chorioretinitis is emphasised. Non-treponemal and treponemal tests for syphilis showed reactivity, but with abnormal serologic expression. The possible relationship between H.I.V. infection and the natural course of syphilis is discussed.
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PMID:[Syphilis in an HIV-infected patient]. 934 Oct 45

Toxoplasmic retinochoroiditis is an important opportunistic retinal infection in human immunodeficiency virus (HIV)-infected patients. It may present as diffuse necrotizing retinochoroiditis instead of a focal lesion and may be the initial manifestation of HIV infection. A 50-year-old heterosexual man presented with blurred vision in his left eye of 3 months' duration. Fundus examination revealed diffuse necrotizing retinochoroiditis, mainly at the posterior pole, with marked vitritis in the left eye. Serologic studies and aqueous fluid antibody titers indicated recent toxoplasmic infection. Positive enzyme immunoassays (EIA) and Western blot tests proved HIV infection. The retinochoroiditis and vitritis improved after an antitoxoplasmic regimen with trimethoprim-sulfamethoxazole (TMP-SMX). Nonetheless, toxoplasmic encephalitis developed 6 months after the onset of ocular toxoplasmosis and responded well to TMP-SMX. This is the first case of toxoplasmic retinochoroiditis as the initial manifestation of AIDS reported in Taiwan. We suggest that Toxoplasma infection should be included in the differential diagnosis of diffuse necrotizing retinochoroiditis and vitritis. We also recommend that adults with newly diagnosed ocular toxoplasmosis be screened for HIV infection.
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PMID:Diffuse toxoplasmic retinochoroiditis as the initial manifestation of acquired immunodeficiency syndrome. 1082 Sep 54

Toxoplasmic retinochoroiditis is an important opportunistic retinal infection in immunodeficiency and elderly patients. The diagnosis of toxoplasmic retinochoroiditis is based primarily on characteristic ocular findings, with supportive serological evidence. It may present as diffuse necrotizing retinitis instead of a focal lesion. We report the original case of a 74-year-old woman who presented with blurred vision in her left eye lasting 3 months. In her medical history, the patient described a tuberculous infection evolving for some months, as well as agranulocytosis treated with Rifadine. Fundus examination revealed diffuse necrotizing retinitis, mainly at the nasal quadrant, with marked vitreitis in the left eye. Clinical recognition of atypical presentations is critical for timely antiparasitic drug therapy. This case initially was misdiagnosed as acute retinal necrosis syndrome. The correct diagnosis was confirmed by response to polymerase chain reaction studies of an intraocular specimen and histopathological analysis. The extensive necrotizing retinitis was nonhemorrhagic but associated with retinal detachment. Significant visual loss accompanied the infection. Toxoplasmosis should be considered as a cause of diffuse necrotizing retinitis in elderly and immunosuppressive patients. Older patients may be more susceptible to severe ocular Toxoplasma infections because of age-related decline in cell-mediated immunity and chronic underlying diseases.
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PMID:[Toxoplasma gondii and necrotizing retinitis: a case report]. 1458 27

The introduction of potent antiretroviral drug combinations has transformed human immunodeficiency virus/acquired immunodeficiency disease syndrome (HIV/AIDS) from an intractable and rapidly fatal disease to a chronic manageable illness with prolonged life survival for many patients. This paper discusses the ophthalmic and medical histories of two young female patients who presented with 'atypical' optic neuropathy and toxoplasma gondii retinochoroiditis and were later found to be HIV infected. We discuss the need for increased vigilance in the ophthalmic community for suspecting HIV infection to allow optimal management of the ophthalmic and systemic manifestations of the disease spectrum associated with HIV/AIDS.
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PMID:Delayed diagnosis of HIV infection in ophthalmic practice. 1500 80

Syphilis is a sexually transmitted, chronic, systemic infection caused by the spirochete Treponema pallidum. If left untreated, the disease progresses through four stages, with the potential to cause significant morbidity to any major organ of the body. Frequent syphilitic ocular manifestations, which can occur at any stage of the disease, include interstitial keratitis, anterior, intermediate, and posterior uveitis, chorioretinitis, retinitis, retinal vasculitis and cranial nerve and optic neuropathies. Diagnosis is centered around a high level of clinical suspicion and includes treponemal specific and non-treponemal serologic tests. All patients with newly diagnosed syphilis should be tested for co-infection with human immunodeficiency virus, as the risk factors are similar for both diseases. Additionally, all patients with ocular syphilis should be tested for neurosyphilis. The preferred treatment for all stages of syphilis remains parenteral penicillin G. With proper diagnosis and prompt antibiotic treatment, the majority of cases of syphilis can result in a cure.
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PMID:Ocular manifestations and treatment of syphilis. 1628 50

The reactivation of an uncommon type I/III recombinant-genotype Toxoplasma gondii strain resulted in unusually severe encephalitis and chorioretinitis associated with a cerebral salt wasting syndrome in an African human immunodeficiency virus patient. This observation suggests an influence of the parasite genotype on disease expression in immunocompromised patients.
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PMID:Severe Toxoplasma gondii I/III recombinant-genotype encephalitis in a human immunodeficiency virus patient. 1763 10

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease that has been reported to present with various chorioretinal findings, predominantly in men. We report a case of a 17-year-old girl with a known diagnosis of CGD referred to the ophthalmology clinic for evaluation of an inflamed pingueculum. Upon clinical examination and ophthalmic imaging, high-quality montage fundus photographs demonstrated a wide array of bilaterally asymmetric chorioretinal findings known to be characteristic of the ophthalmic manifestations of CGD, including chorioretinitis and focal subretinal granuloma. This report also adds to the body of evidence that the chorioretinal findings associated with this disease have the potential to worsen over time.
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PMID:Fundus findings in chronic granulomatous disease. 2379 91

Idiopathic CD4 lymphocytopenia (ICL) is a rare immunodeficiency disorder. We describe a 49-year-old woman with a history of ICL who developed hepatic Epstein-Barr virus (EBV)-positive diffuse large B-cell lymphoma (DLBCL). ICL was diagnosed at a time of her presentation with varicella-zoster virus (VZV) meningoencephalitis and chorioretinitis. Her CD4 count subsequently improved but remained at the lower limits of the normal range. Five years later she presented with cough, fever and night-sweat. She was found to have multiple liver nodules on MRI, fluorodeoxyglucose (FDG) avid on the positron emission tomography (PET) CT, histologically defined as DLBCL, EBV positive and of non-germinal centre type. To our knowledge this is the first reported case of EBV-positive DLBCL localised to the liver in the context of ICL. EBV-positive DLBCL typically occurs in immunocompromised individuals. The corticosteroid therapy she received for VZV meningoencephalitis may have contributed to the EBV reactivation with subsequent EBV-driven malignant transformation of B-cells.
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PMID:EBV-driven diffuse large B-cell lymphoma confined to the liver in a patient with a history of idiopathic CD4 lymphocytopenia. 2396 55

Purpose. To describe the clinical manifestations and treatment outcomes of syphilitic uveitis in a Chinese population. Methods. This is a retrospective case series of 15 consecutive patients with syphilitic uveitis treated at a uveitis referral center between 2012 and 2015. Results. Fifteen patients were diagnosed with syphilitic uveitis based on positive serological tests. Nine patients were male. Coinfection with human immunodeficiency virus was detected in two patients. Twenty eyes presented with panuveitis and all patients had posterior involvement. The most frequent manifestations were retinal vasculitis and papillitis, while syphilitic posterior placoid chorioretinitis was only found in three eyes. All patients received systemic penicillin therapy according to CDC guidelines. Nine patients were misdiagnosed before presenting to our center and the delay in treatment with penicillin was associated with poor final visual outcomes (P < 0.05). Conclusions. In our series, both male and female were almost equally affected and coinfection of syphilis with human immunodeficiency virus was uncommon. All patients in this study had posterior involvement and the most common manifestations were retinal vasculitis and papillitis. Syphilis should be considered as an important differential diagnosis especially for posterior uveitis and panuveitis. Early diagnosis and appropriate treatment are important for visual prognosis.
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PMID:Clinical Manifestations and Treatment Outcomes of Syphilitic Uveitis in a Chinese Population. 2714 14

This case describes an emergency department (ED) presentation of ocular syphilis in a human immunodeficiency virus (HIV) infected patient. This is an unusual presentation of syphilis and one that emergency physicians should be aware of. The prevalence of syphilis has reached epidemic proportions since 2001 with occurrences primarily among men who have sex with men (MSM). This is a case of a 24-year-old male who presented to our ED with bilateral painless vision loss. The patient's history and ED workup were notable for MSM, positive rapid plasmin reagin (RPR) and HIV tests and fundus exam consistent with ocular syphilis, specifically uveitis. Ocular manifestations of syphilis can present at any stage of syphilis. The 2010 Centers for Disease Control and Prevention guidelines now recommend that ocular syphilis be treated as neurosyphilis regardless of the lumbar puncture results. There is a paucity of emergency medicine literature on ocular syphilis. For emergency physicians it is important to be aware of iritis, uveitis, or chorioretinitis as ocular manifestations of neurosyphilis especially in this high-risk population and to obtain RPR and HIV tests in the ED to facilitate early diagnosis, and treatment and to prevent irreversible vision loss.
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PMID:Don't Forget What You Can't See: A Case of Ocular Syphilis. 2742 2


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