Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infections were considered to be etiological factors in 29 patients (10%) with infantile spasms; congenital CMV (n = 5), congenital or acquired CMV (n = 1), acquired CMV (n = 5), congenital rubella (n = 2), herpes simplex virus (n = 5), enterovirus (n = 1), adenovirus (n = 1), viral encephalitis of unknown agent (n = 3), meningococcus (n = 4), pneumococcus (n = 1) and pertussis (n = 1). The children with congenital infections had long-lasting tremor and convulsions from birth. Early EEG pattern was characteristic for children with herpes encephalitis but not for other patients. Infantile spasms appeared only some weeks after viral encephalitis. One patient with enterovirus and another with probable adenovirus infection had necrotic changes in their brain CT resembling those of herpes encephalitis. The response to ACTH was poor (38%) compared to the whole series (60%). The long-term outcome was also poor compared to the whole series; mental retardation in 90%, convulsions in 62%, abnormal EEG in 89%. Four children died during the follow-up of 7 years. Autopsy showed disseminated CMV infection in one patient and chronic CMV infection in another. The outcome of children with infectious etiology appears to be particularly poor. Thus, the prevention and specific diagnosis and treatment are important. Steroid therapy should be avoided in children with a history of herpes virus encephalitis (CMV, herpes simplex) in the past.
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PMID:Infantile spasms: infectious disorders. 830 17

Putative etiology was studied in 991 patients with symptomatic localization-related epilepsies seen in a university hospital in South India. They formed 39% of patients with various types of epilepsies and epileptic syndromes seen during the study period. Seizure occurred in close temporal association with an acute central nervous system (CNS) insult in 53% of patients. Infections of CNS including single CT enhancing lesion (SCTEL) accounted for 77% of patients with acute symptomatic epilepsy. Cerebrovascular diseases were the risk factors in 48% of patients with remote symptomatic epilepsy. Neurocysticercosis, SCTEL and small single cerebral calcific CT lesion (SSCCCTL) together accounted for 40% of etiological factors and neurotuberculosis for 10%. Infections of the central nervous system and SCTEL together were the putative risk factors in 52% of patients aged < or =40 years. Cerebrovascular diseases were the etiological factors in 64% of patients aged >40 years. Neurological handicaps from birth manifested by mental retardation and/or cerebral palsy was the feature in 21% of children. The type of seizure was either simple partial or complex partial with or without secondary generalization in 76% of patients. The remaining patients presented with either generalized tonic clonic seizures or unlocalized seizures. Localization to a single site of seizure origin proposed by the International League Against Epilepsy (ILAE) was possible in only 67.5% of patients. The most readily identifiable was motor cortex. In patients with unlocalized or generalized seizures the type of pathology was diffuse in 17% of patients and in 48.5% of patients, the lesion was located in the frontal brontoparietal lobe.
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PMID:Etiological spectrum of symptomatic localization related epilepsies: a study from South India. 966 80

Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder characterized by multiple congenital anomalies and various degrees of cognitive deficits. This condition results from a deficiency of 7-dehydrocholesterol reductase, a critical step in cholesterol biosynthesis. Children with Smith-Lemli-Opitz syndrome have frequent infections, particularly of the respiratory tract. Immunodeficiency, however, is not recognized as a part of this metabolic condition. Frequent infections are usually attributed to a decreased patient mobility and reduced respiratory effort secondary to muscular hypotonia and mental retardation, which are often present in affected individuals. We describe a patient with Smith-Lemli-Opitz syndrome and recurrent respiratory infections who was found to have a selective antibody deficiency. The immunological diagnosis was based on an absent immune response to Pneumovax. She also had no immunological response to hepatitis B vaccine and was unable to break down red cells with isoagglutinin B. Therapy with intravenous IgG (IVIG) was initiated. Infections were less severe, although they still occurred in a high frequency after initiation of the IVIG therapy. This finding prompts the need for a higher index of suspicion for an underlying immune deficiency in patients with Smith-Lemli-Opitz syndrome who present with recurrent and chronic infections. Early recognition and appropriate therapeutic interventions may decrease the severity of infections, prevent potentially fatal infections, and eventually improve the quality of life in these patients.
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PMID:Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. 1587 7

Ataxia-telangiectasia is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, x-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. To evaluate clinical and immunologic features of Iranian patients with ataxia-telangiectasia, the records of 104 patients with ataxia-telangiectasia (54 male, 50 female) with the age range of 1.6-23.5 years were reviewed. The Iranian Primary Immunodeficiency Registry was used as the data source. Progressive ataxia was seen in all the patients. Other symptoms were eye movement disorders (n = 84), slurred speech (n = 70), mental retardation (n = 10), and ocular (n = 87) and cutaneous (n = 73) telangiectasia. Three patients developed leukemia and lymphoma, and 17 patients had family history of malignancy. Positive correlation was seen between clinical immunologic symptoms and immunoglobulin deficiencies (P = 0.004). The predominant infections were sinopulmonary and acute and recurrent infections (78 cases). Infections included pneumonia (56 patients), otitis media (34 patients), and sinusitis (50 patients). Average serum alpha-fetoprotein level was 149 +/- 137 ng/dL. The incidence of ataxia-telangiectasia in Iran is high, possibly due to familial marriages. Treatment should be focused on supportive management to prolong survival.
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PMID:Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients. 1762 18

Infections by the protozoan parasite Toxoplasma gondii are widely prevalent in humans and animals in Brazil. The burden of clinical toxoplasmosis in humans is considered to be very high. The high prevalence and encouragement of the Brazilian Government provides a unique opportunity for international groups to study the epidemiology and control of toxoplasmosis in Brazil. Many early papers on toxoplasmosis in Brazil were published in Portuguese and often not available to scientists in English-speaking countries. In the present paper we review prevalence, clinical spectrum, molecular epidemiology, and control of T. gondii in humans and animals in Brazil. This knowledge should be useful to biologists, public health workers, veterinarians, and physicians. Brazil has a very high rate of T. gondii infection in humans. Up to 50% of elementary school children and 50-80% of women of child-bearing age have antibodies to T. gondii. The risks for uninfected women to acquire toxoplasmosis during pregnancy and fetal transmission are high because the environment is highly contaminated with oocysts. The burden of toxoplasmosis in congenitally infected children is also very high. From limited data on screening of infants for T. gondii IgM at birth, 5-23 children are born infected per 10 000 live births in Brazil. Based on an estimate of 1 infected child per 1000 births, 2649 children with congenital toxoplasmosis are likely to be born annually in Brazil. Most of these infected children are likely to develop symptoms or signs of clinical toxoplasmosis. Among the congenitally infected children whose clinical data are described in this review, several died soon after birth, 35% had neurological disease including hydrocephalus, microcephaly and mental retardation, 80% had ocular lesions, and in one report 40% of children had hearing loss. The severity of clinical toxoplasmosis in Brazilian children may be associated with the genetic characteristics of T. gondii isolates prevailing in animals and humans in Brazil.
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PMID:Toxoplasmosis in humans and animals in Brazil: high prevalence, high burden of disease, and epidemiology. 2277 27

In late April 2012, an infectious disease physician contacted CDC regarding a patient with aseptic meningitis who worked at a rodent breeding facility in Indiana. Lymphocytic choriomeningitis virus (LCMV) infection was suspected, and LCMV-specific antibody was detected in blood and cerebrospinal fluid from the patient, confirming the diagnosis. LCMV is an arenavirus carried by the common house mouse. Persons become infected through close contact with infected rodents, through infected organ transplantation, or from mother to fetus. In immunocompetent adults, symptoms can range from mild febrile illness to meningeal symptoms (e.g., headache, stiff neck, or sensitivity to light). Congenitally infected infants can have a range of severe birth defects including hydrocephalus, chorioretinitis, blindness, and mental retardation (1). Infections in organ recipients, who are immunosuppressed, can have a case-fatality rate approaching 90% (2).
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PMID:Notes from the field: lymphocytic choriomeningitis virus infections in employees of a rodent breeding facility--Indiana, May-June 2012. 2289 87

Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii. Infections are usually either asymptomatic or develop mild symptoms that are self-limited, but infections in immunosuppressed persons can be severe. Infections in pregnant women can cause serious health problems in the child such as mental retardation and blindness. Infection with T. gondii in immunocompetent adults can lead to impaired eyesight. Toxoplasmosis has ranked very highly in two studies of death and disability attributable to foodborne pathogens. The consumption of raw or undercooked meat containing T. gondii tissue cysts and the consumption of raw vegetables or water contaminated with T. gondii oocysts from cat feces is most frequently associated with human illness. The risk of acquiring a Toxoplasma infection via food varies with cultural and eating habits in different human populations.
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PMID:Toxoplasma gondii in the Food Supply. 2858 47