Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 7 year old girl with intrachromosomal triplication 46,XX,-15,+der(15)(pter-->q13::q13-->q11::q11-->qter) resulting in tetrasomy of 15q11-q13 is reported. Fluorescence in situ hybridisation confirmed that the tetrasomic region included the entire segment normally deleted in Prader-Willi and Angelman syndrome patients, and breakpoints were similar to those reported in two tandem duplications of 15q11-q13. The middle repeat was inverted, suggesting a possible origin through an inverted duplication intermediate. Microsatellite analysis showed that the rearrangement was of maternal origin and involved both maternal homologues. Clinical findings included multiple minor anomalies (a fistula over the glabella, epicanthic folds, downward slanting palpebral fissures, ptosis of the upper lids, strabismus, a broad and bulbous tip of the nose, and small hands and feet), motor and mental retardation, a seizure disorder, and limited verbal abilities. In addition, immunological examination disclosed a selective immunodeficiency. The overall phenotype did not clearly resemble that of cases with tetrasomy 15pter-q13 associated with an extra inv dup(15)(pter-->q13:q13-->pter) chromosome. The latter aberration causes more severe mental deficit and intractable seizures, but less marked phenotypic alterations, although some overlap in mild facial dysmorphic features is present. A number of features common to Angelman syndrome were also observed in the patient.
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PMID:Intrachromosomal triplication of 15q11-q13. 783 57

Two young adult Macaca fascicularis each had unilateral mydriasis and ptosis. Both animals were euthanatized, monkey No. I for progressive neurologic signs and monkey No. 2 because of a positive intradermal tuberculin test. At necropsy, each animal had a single intracranial mass on the ventral surface of the midbrain, surrounding the oculomotor nerve. Histologically, both masses were immunoblastic lymphomas. Immunohistochemical staining revealed the neoplasms to be of B-cell origin. Simian retrovirus (SRV) was isolated from both monkeys, but simian immunodeficiency virus was not found. Both animals lacked antibody to SRV. Both animals had antibodies to Epstein-Barr-like virus (EBV), but EBV antigens were not found by immunohistochemistry. Polymerase chain reaction analysis for integrated EBV DNA was unproductive. One of the animals (monkey No. 2) had a pulmonary infection with Mycobacterium avium, suggesting that immunosuppression was present. These cases represent a unique and previously undescribed type of solitary lymphoma in SRV-infected macaques.
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PMID:Intracranial lymphomas in simian retrovirus-positive Macaca fascicularis. 1201 7

According to reports from the Program for Appropriate Technology in Health (PATH) and the World Bank, women in less developed countries (LDCs) suffer the greatest risk due to reproductive health problems. At any given time, a woman in a LDC is more likely than not to have at least 1 reproductive health problem that could be treated by a primary care provider or counseling and referral ("Women's Reproductive Health: The Role of Family Planning Programs," a PATH report). Among diseases for which cost-effective interventions exist (treatments or preventive measures), reproductive health problems account for the majority of the disease burden (a measure of healthy years lost due to disability or premature death) among women aged 15-44. A study of 650 women in India found that more than 50% reported specific gynecological problems; clinical examination found more than 90% had 1 or more such problems. In a study of 509 nonpregnant women in rural Egypt, it was discovered that more than 52% had a reproductive tract infection, 56% had some form of uterine prolapse, 14% had a urinary tract infection, and 11% had an abnormal Pap smear. Major reproductive health problems continue into menopause; cervical cancer, which is linked to reproductive tract infections and early and frequent childbearing, strikes 400,000 women in LDCs each year. Sexually transmitted disease (STD) and human immunodeficiency virus (HIV) infections are also problems; women are twice as likely as men to contact gonorrhea from an infected sex partner, and 14 million women will have been infected with HIV by the year 2000 (WHO estimate). Treatment is often unsought by women because they do not understand the risk, are unaware of the symptoms, or fear the stigma of attending a clinic. If all the women who wanted to control their fertility had access to family planning services, maternal mortality would decrease by nearly 50%. Reproductive health services (routine gynecological care, perinatal care, family planning services, cancer screening, STD/HIV services, nutritional supplementation, and other services appropriate to age) are needed.
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PMID:Reproductive health problems loom in LDCs. 1231 59

A-58-year old man presented with fluctuating ptosis and dysphagia. When he was 53 years old, he developed oral candidiasis and serum human immunodeficiency virus (HIV) RNA was detected. After starting highly active antiretroviral therapy, serum HIV RNA became undetectable. Neurological examination revealed ptosis and bulbar symptoms. Myasthenia gravis was comfirmed by a positive edrophonium test, showing 20% decrement of the compound muscle action potential on repetitive stimulation. Anti-acetylcholine receptor antibodies were negative and anti-muscle specific tyrosine kinase (MuSK) antibodies were positive. The chest CT scan was normal. He experienced transient clinical remission with pyridostigmine bromide and prednisolone. However relapse occurred after he returned to work. Persistent clinical remission was first observed after cyclosporin administration. There are eleven reports in which patients had concomitant myasthenia gravis and HIV infection. Most of those cases were benign in clinical course and required only anticholinesterase therapy. In our case, however, anti-MuSK antibodies were positive, and symptoms of myasthenia gravis remained despite prednisolone administration. Cyclosporin is directly active against HIV, and thus, cyclosporine therapy may be helpful in patients with concomitant myasthenia gravis and HIV infection.
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PMID:[Anti-MuSK antibody positive myasthenia gravis with HIV infection successfully treated with cyclosporin: a case report]. 1904 51

Infection of the central nervous system with Nocardia sp. usually manifests as supratentorial abscesses. Supratentorial and cerebellar abscesses from infection with Nocardia sp. following immunosuppression with long-term corticosteroids for idiopathic thrombocytopenia (ITP) have not been reported. An 83 years-old, human immunodeficiency virus (HIV)-negative, polymorbid male with ITP for which he required corticosteroids since age 53 years developed tiredness, dyspnoea, hemoptysis, abdominal pain, and progressive gait disturbance. Imaging studies of the lung revealed an enhancing tumour in the right upper lobe with central and peripheral necrosis, multiple irregularly contoured hyperdensities over both lungs, and right-sided pleural effusions. Sputum culture grew Nocardia sp. Neurological diagnostic work-up revealed dysarthria, dysphagia, ptosis, hypoacusis, tremor, dysdiadochokinesia, proximal weakness of the lower limbs, diffuse wasting, and stocking-type sensory disturbances. The neurological deficits were attributed to an abscess in the upper cerebellar vermis, myopathy from corticosteroids, and polyneuropathy. Meropenem for 37 days and trimethoprime-sulfamethoxazole for 3 months resulted in a reduction of the pulmonary, but not the cerebral lesions. Therefore, sultamicillin was begun, but without success. Long-term therapy with corticosteroids for ITP may induce not only steroid myopathy but also immune-incompetence with the development of pulmonary and cerebral nocardiosis. Cerebral nocardiosis may not sufficiently respond to long-term antibiotic therapy why switching to alternative antibiotics or surgery may be necessary.
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PMID:Cerebellar nocardiosis and myopathy from long-term corticosteroids for idiopathic thrombocytopenia. 2004 27

We report a rare instance of favorable outcome in orbital apex syndrome secondary to herpes zoster ophthalmicus (HZO) in a human immunodeficiency virus (HIV)-positive patient. The patient complained of pain and decrease in vision in one eye (20/640) for 2 weeks accompanied with swelling, inability to open eye, and rashes around the periocular area and forehead. The presence of complete ophthalmoplegia, ptosis, relative afferent pupillary defect, and anterior uveitis with decreased corneal sensation prompted a diagnosis of HZO with orbital apex syndrome. The enzyme-linked immunosorbent assay test and a low CD4 count confirmed HIV. Highly active antiretroviral therapy (HAART), systemic acyclovir, and systemic steroids were started. Visual acuity and uveitis improved within 10 days. By the end of the fourth week, ocular motility also recovered and the final visual acuity was 20/25. We highlight the role of HAART, used in conjunction with systemic steroid and acyclovir therapy, in improving the outcome.
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PMID:A rare case of orbital apex syndrome with herpes zoster ophthalmicus in a human immunodeficiency virus-positive patient. 2095 40

Unilateral ptosis is seen in a limited number of conditions such as Horner syndrome, cluster headache, trauma, tumor, stroke, old age, nerve injury, lacrimal gland tumor, temporal arteritis or disorders of the upper eyelid. The authors present a case of unilateral ptosis secondary to Burkitt lymphoma metastasis to brain with excellent response to chemotherapy and complete resolution of ptosis in a man with human immunodeficiency virus. This vignette emphasizes the importance of recognizing ptosis as an initial presentation of Burkitt lymphoma in a patient with human immunodeficiency virus under appropriate clinical settings.
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PMID:Burkitt lymphoma presenting as ptosis in a man with human immunodeficiency virus. 2198 2

A 43-year-old man was admitted to our hospital because of diplopia, ptosis, and dysphagia that had begun three years previously. He was diagnosed with myasthenia gravis (MG) and invasive thymoma and treated with corticosteroid, thymectomy, and radiation therapy. Ten years after the thymectomy, computed tomography (CT) showed metastasis of the thymoma in the left lower lobe of the lung. Two years after this recurrence, when the patient was 55, respiratory symptoms such as wheezing, persistent cough, and dyspnea appeared. Chronic sinusitis, diffuse centrilobular opacities on CT, and positivity for HLA-B54 led to a diagnosis of diffuse panbronchiolitis (DPB). Despite treatment with clarithromycin, the respiratory symptoms worsened. The patient developed alopecia and body hair loss at the age of 56 followed by dysgeusia, cholangitis, and myositis with positivity for anti-Kv1.4 antibodies. Although treatment with an increased dose of corticosteroid improved hair loss, dysgeusia, cholangitis, and myositis, he died of progression of DPB and serious respiratory infection at the age of 58. In this case, various autoimmune disorders occurred together with MG as complications of thymoma. Although alopecia, dysgeusia, and myositis are already known as complications of MG associated with thymoma, cholangitis is not well-recognized since there have been few reports suggesting a causal relationship between cholangitis and thymoma. Furthermore, DPB caused by immunodeficiency and respiratory tract hypersensitivity associated with thymoma and HLA-B54, respectively, is the distinctive feature of our case. Neurologists should be aware that various organs can be damaged directly and indirectly by abnormal T cells from thymoma in patients with MG.
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PMID:[A case of myasthenia gravis with invasive thymoma associated with diffuse panbronchiolitis, alopecia, dysgeusia, cholangitis and myositis]. 2528 23

Tuberculosis involving the central nervous system, a source of considerable morbidity and mortality, forms 5-10% of the disease burden associated with tuberculosis. Central nervous system tuberculosis may present as meningitis, tuberculoma, abscesses, cerebritis or miliary tuberculosis. The most common site of tuberculoma has been reported to be at the grey-white matter junction and the periventricular region. They may even be found in the epidural, subdural and subarachnoid spaces, and the brain stem, with the rarer sites of involvement being the cavernous sinus, sella turcica, hypophysis, hypothalamus, sphenoid sinus and the mastoid air cells. Although tuberculosis is very common in developing countries, with the increasing prevalence of immunosuppression owing to human immunodeficiency virus and patients surviving chemotherapy or organ transplantation, the incidence of tubercular infections has been rising in developed countries. The authors report a case of intracranial tuberculosis in a human immunodeficiency virus-negative patient, who underwent incomplete treatment for tubercular peritonitis and presented with unilateral ptosis. Tuberculous involvement was noted in a racemose pattern in the subarachnoid space, cavernous sinuses, suprasellar cistern and parasellar region. To the best of our knowledge, the term racemose pattern of tuberculoma has not been described before, while about 10 cases of tuberculoma involving the cavernous sinuses have been reported in the literature. Furthermore, the racemose pattern of tuberculosis in the subarachnoid space, as well as involvement of the cavernous sinus, hypothalamus, pituitary and the cisterns, developed paradoxically after initiation of antitubercular chemotherapy.
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PMID:A case report of racemose pattern of intracranial tuberculoma with brain stem and hypophyseal involvement developing paradoxically during treatment. 3046

Here we reported a Chinese case of bilateral peripheral facial paralysis (PFP) in human immunodeficiency virusc (HIV) infected population. A 38-year-old homosexual male patient was referred to our hospital for bilateral facial paralysis. 21 days prior to admission he had developed high fever, chills, headache, fatigue, general malaise, nausea and vomiting. Neurological examination revealed bilateral ptosis of lower lip and cheeks, as well as failure of bilateral eyes closure. Analysis of cerebrospinal fluid (CSF) revealed pleocytosis, a marked rise of micro total protein and a marked rise of intrathecal lgG synthesis. The result of HIV-1 serology was positive by ELISA and that was confirmed by western blot. His CD4 + cell count was 180 cells/mm 3. HIV-1 viral load in CSF was almost 10 times higher than that in plasma. The patient's condition improved steadily and experienced complete resolution of bilateral PFP after 2 months.
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PMID:Bilateral Peripheral Facial Paralysis Combined with HIV Meningitis During Acute HIV-1 Infection: A Case Report. 3096 82


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