Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is presented with early-onset polyarthritis involving both large and small joints, prolonged fever, skin rash, hepatosplenomegaly, persistent cerebro-spinal fluid pleocytosis, brain atrophy, macrocephaly with ventricular dilatation, a persistently open fontanelle, lymphadenopathy, subcutaneous nodules, developmental delay, failure to thrive, persistent hypochromic microcytic anemia, leukocytosis with shift to the left, early thrombocytopenia followed by thrombocytosis, high erythrocyte sedimentation rate, elevated immunoglobulin level, and vasculitis involving several organs. Thirteen cases have been previously reported under different names. A unified name is needed; we suggest "infantile-onset arthritis and multisystem inflammatory disease."
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PMID:Infantile-onset arthritis and multisystem inflammatory disease: "a new syndrome". 355 12

Case records of HIV infected patients were analyzed for identifying neurological manifestations. Eight patients (7 males) were identified to have probable HIV encephalopathy (in a period of 24 months) as per the CDC revised classification system. Their ages ranged from one year to ten years. The neurological manifestations noted included-developmental delay (2 cases), seizures (6 cases), acute onset alteration of sensorium (4 cases), aphasia (2 cases), loss of vision (2 cases), focal neurological deficits (6 cases), brisk deep tendon reflexes (7 cases), extensor plantar responses (5 cases) and signs of cerebellar dysfunction (2 cases). Other clinical features included growth failure, microcephaly, fever, lymphadenopathy, hepatomegaly, splenomegaly, pneumonia, otorrhea and oral candidiasis. Cerebrospinal fluid studies were normal. The neuroimaging features included cerebral atrophy and ventricular dilatation, cerebral infarction, basal ganglia calcification and cerebellar atrophy. Childhood HIV infection may have a variety of neurological abnormalities. HIV infection should be suspected in children presenting with unexplained neurological manifestations and growth failure.
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PMID:Neurological manifestations of HIV infection. 1265 56

A 56-year-old woman was followed in the neurological department for febrile mental confusion. The diagnosis of sarcoidosis was suggested on the ground of associated abdominal lymphadenopathy, elevated serum angiotensin-converting enzyme level, aseptic meningitis and intracranial hypothalamic lesion. Nevertheless, radiological, biological and histological analyses could not assert the diagnosis of systemic sarcoidosis. Six months later, cerebral MRI showed a recent enhanced nodule, located near the right choroid plexus, inducing a dilatation of the right temporal ventricular horn. A surgical endoscope-assisted biopsy of that lesion was decided. The endoscope was introduced in the right trapped temporal ventricle. The limits between normal and pathological tissues were clearly identified. The biopsy was thus accurately performed. Histological analysis definitely confirmed the diagnosis of neurosarcoidosis. No postoperative complication was noted. We report a case of neurosarcoidosis which was diagnosed by ventricular endoscope-assisted biopsy. The discussion stresses the potential advantages of endoscopy for the diagnosis of small periventricular lesions when ventricular dilatation is associated.
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PMID:[Endoscope-assisted biopsy for the diagnosis of neurosarcoidosis]. 1708 18

The present study assessed sensitivity and specificity of PCR targeting P30 gene in diagnosis of congenital toxoplasmosis using amniotic fluid samples. A total of 358 pregnant women in their first trimester of pregnancy, most of them were asymptomatic while the others suffered lymphadenopathy, fever and/or malaise. The serum sample from each woman was screened for Toxoplasma-specific ELISA IgM & IgG. Sero-negative females were then screened in 2nd & 3rd trimesters for sero-conversion. Amniocentesis was performed to seropositive and sero-converted women. Detection of Toxoplasma DNA in AF was done by animal inoculation and PCR targeting P30 gene. 85/358 women were sero-positive for Toxoplasma. Congenital infection was detected in 14/85 fetuses by MI. One mouse had tachyzoite in peritoneal exudate while other 13 showed cysts in histpathological sections of mice. PCR test targeting P30 gene was positive in 13 with additional four fetuses, only PCR gave positive results, and serologic follow-up of suspected fetuses (17) by IgM ELISA confirmed congenital toxoplasmosis. Sixteen cases of congenitally infected newborn were a symptomatic. One was clinically diagnosed (ventricular dilatation) by the ultrasound. The PCR drastically changed the diagnostic repertoire for prenatal diagnosis. The sensitivity and specificity of PCR targeting P30 gene on AF samples were 92.9% & 94.4% respectively while positive predictive value (PPV) was 76.5%, and negative predictive value (NPV) was 98.5%. Its disadvantages were in fact that negative result cannot exclude acute infection, and thus must be confirmed by MI and it is also an expensive technique.
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PMID:Evaluation of polymerase chain reaction on amniotic fluid for diagnosis of congenital toxoplasmosis. 1979 60