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

The histopathologic study of the temporal bones of a case with low-set rudimentary auricles, without preauricular pits or cervical fistula is presented. Abnormalities of the middle and inner ear, fusion of the kidneys, hydrocephalus, short-limbed dwarfism and immunodeficiency are described. An abnormally low position of the middle cranial fossa in relation to the petrous pyramid was observed. The cochlea was of normal length. The modiolus was poorly developed with apparently normal population of ganglion cells and moderate diffuse hydrops of the cochlear duct and saccule. The stria vascularis was partially degenerated in the upper apical coil. Vestibular abnormalities included bilateral absence of common crus of the vertical canals and unusually high origin of endolymphatic aqueduct with no medial dilation present, the convoluted portion of the sac located beneath the dura.
 ...
PMID:Ear anomalies associated with renal dysplasia and immunodeficiency disease. A histopathological study. 30 94

Five cases of congenital toxoplasmosis consecutive to a maternal toxoplasma infection that had preceded pregnancy were observed. One woman with normal immune system had developed a well-documented lymph node toxoplasmosis 2 months before conceiving. Four women had chronic toxoplasmosis diagnosed in the course of an immunosuppressive disease: Hodgkin's disease in 1 case, systemic lupus erythematosus in 2 cases and pancytopenia in 1 case. Toxoplasmosis had been recognized 3, 5 and 10 years respectively before conception in 3 women, and at an uncertain date in 1 woman. Three women had received corticosteroids during pregnancy, and 2 had undergone splenectomy. Among the 6 children (2 were twins), 1 presented with severe foetal disease at birth, 1 developed lethal systemic toxoplasmosis after birth, 1 showed hydrocephalus with therapeutically well-controlled chorioretinitis, 1 had isolated eye lesion and 2 had asymptomatic infection. The parasite seems to have been transmitted after the 20th week of pregnancy in all cases. The physiopathology of mother-to child toxoplasma transmission, the role played by maternal immunodeficiency and the practical implications of these exceptional cases are discussed.
 ...
PMID:[Congenital toxoplasmosis. 5 cases of mother-to-child transmission of pre-pregnancy infection]. 214 35

Twenty cases of cryptococcal CNS infection treated at the Alfred and Fairfield Infectious Diseases Hospitals from 1975 to 1985 were reviewed. A predisposing immunological deficit was present in 40% of the cases and nearly half had evidence of pulmonary involvement. Severe headache was an almost universal presenting feature but fever and meningismus were not. Measurement of CSF cryptococcal antigen and CSF culture were far more reliable diagnostic markers than Indian ink smears. Cerebral CT scanning identified abnormalities in nearly 30% of cases, including 2 with cystic lesions and 2 with mass lesions. Combination therapy with amphotericin B and 5-fluorocytosine was used as first line treatment. Ventricular shunts were required for 2 patients with hydrocephalus, and persistently raised intracranial pressure often required frequent lumbar punctures and corticosteroids for control. Mortality was 30% and correlated with the presence of impaired conscious state, hydrocephalus or other neurological deficit, underlying immunodeficiency and low CSF glucose levels.
 ...
PMID:Cryptococcal infections of the central nervous system: a ten year experience. 366 61

Hydrocephalus can be associated with increased morbidity and mortality in cryptococcal meningitis if left untreated. Both ventriculoperitoneal and ventriculoatrial shunting have been used in persons with cryptococcosis complicated by hydrocephalus, but the indications for and complications, success, and timing of these interventions are not well known. To this end, we reviewed the clinical courses of 10 non-human immunodeficiency virus-infected patients with hydrocephalus secondary to cryptococcal meningitis who underwent shunting procedures. Nine of 10 patients who underwent shunting had noticeable improvement in dementia and gait. Two patients required late revision of their shunts. Shunt placement in eight patients with acute infection did not disseminate cryptococcal infection into the peritoneum or bloodstream, nor did shunting provide a nidus from which Cryptococcus organisms proved difficult to eradicate. Shunting procedures are a safe and effective therapy for hydrocephalus in patients with cryptococcal meningitis and need not be delayed until patients are mycologically cured.
 ...
PMID:Treatment of hydrocephalus secondary to cryptococcal meningitis by use of shunting. 1019 90

Few studies have evaluated culture positive tuberculous meningitis (TBM) as a group. We evaluated certain clinical factors in culture positive TBM which could be associated with a poorer outcome. Out of 40 consecutive TBM patients seen over a period of 4 years in a tertiary referral hospital, 18 culture positive and non-human immunodeficiency virus (HIV) related cases were studied. The mean age was 37.9 +/- 14.9 years (range 9-63); five were males and 13 females. None had any associated active chronic medical illness. Patients (44.4%) started on antituberculous treatment within 24 h of admission. Treatment was initiated at a median time of 48 h upon admission in hospital. Univariate analysis revealed a significant correlation between hydrocephalus (P = 0.007) and poor morbidity and mortality. The other clinical factors were not statistically significant: age (P = 0.36): sex (P = 0.49); symptom duration (P = 0.69); BCG vaccination (P = 0.65); cerebral infarct (P = 0.63); extrameningeal spread (P = 1.00); steroids (P = 1.00); time to treatment (P = 0.94) and stage of disease (P = 0.11). Hydrocephalus was the only significant factor predisposing culture positive TBM patients to a poorer outcome. There was also a trend towards a poorer prognosis in those with advanced stage of the disease.
 ...
PMID:Culture positive tuberculous meningitis: clinical indicators of poor prognosis. 1053

To understand the pathogenesis of human immunodeficiency virus-induced neuropathology, it is critical to know the dynamics of viral replication in the central nervous system. Viral decay kinetics were mathematically analyzed from multiple serial specimens of ventricular cerebrospinal fluid and plasma during antiretroviral therapy in a patient with asymptomatic human immunodeficiency virus infection and an external ventricular catheter for hydrocephalus. A rapid exponential decay of virus with an elimination half-life of 4.2 days in ventricular cerebrospinal fluid and 2.3 days in plasma was found. Sequencing the V3 loop-encoding envelope gene of virus in both compartments revealed high sequence homology. The combined data suggest that virus in ventricular cerebrospinal fluid is at least partly contributed by rapidly replicating virus-producing cells recruited from the circulation.
 ...
PMID:Rapid clearance of human immunodeficiency virus type 1 from ventricular cerebrospinal fluid during antiretroviral treatment. 1085 50

Between 1997 and 2000, 4 human immunodeficiency virus-negative patients in our institution had cryptococcal meningitis with uncontrollable intracranial hypertension. All 4 patients were treated with antifungal drugs as well as ventriculoperitoneal (VP) shunts for intracranial hypertension. Neurological deficits that were unresponsive to pharmacologic treatment were resolved by use of the VP shunt. Uncontrollable elevation of intracranial pressure associated with cryptococcal meningitis can be resolved by use of a VP shunt, even when imaging studies do not reveal hydrocephalus.
 ...
PMID:Use of ventriculoperitoneal shunts to treat uncontrollable intracranial hypertension in patients who have cryptococcal meningitis without hydrocephalus. 1203 12

An unusual case of cerebellar granular layer aplasia is reported. A 5-year-old boy was born with hydrocephalus and a peritoneal drainage shunt was placed after the delivery. Symptoms of cerebral paralysis, impaired mental function and cerebellar ataxia had developed gradually. Patient's karyotype was 46,XY. Laboratory tests for cytomegalovirus, Herpes simplex virus, Toxoplasma gondii, human immunodeficiency virus, rubella and hepatitis B virus were negative. Further laboratory investigation showed no signs of Tay-Sachs disease, Niemann-Pick disease, Gaucher disease, phenylketonuria, galactosemia or glycogen storage disease. No congenital malformations were traced in other family members for three generations. Radiation exposure and infections during the pregnancy were refuted.
 ...
PMID:Cerebellar granular layer aplasia in congenital hydrocephalus. 1241 62

We present the clinical and laboratory features of a boy with a new syndrome of mitochondrial depletion syndrome and T cell immunodeficiency. The child suffered from severe recurrent infectious diseases, anemia, and thrombocytopenia. Clinically, he presented with severe psychomotor retardation, axial hypotonia, and a disturbed pain perception leading to debilitating biting of the thumb, lower lip, and tongue. Brain imaging showed hypoplasia of corpus callosum and an impaired myelinization of the temporo-occipital region with consecutive supratentorial hydrocephalus. Histologic examination of a skeletal muscle biopsy was normal. Biochemical investigation showed combined deficiency of respiratory chain complexes II+III and IV. MtDNA depletion was found by real-time PCR. No pathogenic mutations were identified in the TK2, SUCLA2, DGUOK, and ECGF1 genes. A heterozygous missense mutation was found in POLG1. The pathogenic relevance of this mutation is unclear. Interestingly, a lack of CD8(+) T lymphocytes as well as NK cells was also observed. The percentage of CD45RO-expressing cells was decreased in activated CD8(+) T lymphocytes. Activation of T lymphocytes via IL-2 was diminished. The occurrence of the immunologic deficiency in our patient with mtDNA depletion is a rare finding, implying that cells of the immune system might also be affected by mitochondrial disease.
 ...
PMID:Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency. 1685 57

Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentation is rare and we report a case that presented with obstructive hydrocephalus and infiltrative lesions in the brain unaccompanied by other features of accelerated phase. Biopsy of these lesions demonstrated sinus histiocytosis. Electron microscopy of hair shaft and genetic studies established the diagnosis of Griscelli disease with RAB 27A mutation.
 ...
PMID:Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. 1708


1 2 3 4 Next >>