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Strana 1 z 72 Výsledek
Syndrome of myopathy, short stature, seizures, retinitis pigmentosa, and cleft lip.
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Přihlášení Registrace
A five-year-old boy is presented with an undifferentiated myopathy, retinitis pigmentosa, incomplete cleft lip, short stature (less than third percentile), mild delay in development, and seizures. To date, no etiology or pathogenetic mechanism has been discovered to account for these, and no similar
[A case of spinocerebellar ataxia with retinitis pigmentosa, deafness, seizure and EEG abnormality (author's transl)].
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Neonatal SCA2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia.
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Morbidity and toxic effects associated with ganciclovir or foscarnet therapy in a randomized cytomegalovirus retinitis trial. Studies of ocular complications of AIDS Research Group, in collaboration with the AIDS Clinical Trials Group.
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Přihlášení Registrace
BACKGROUND
The Foscarnet-Ganciclovir Cytomegalovirus Retinitis Trial compared the use of either ganciclovir or foscarnet for the initial treatment of cytomegalovirus retinitis in patients with the acquired immunodeficiency syndrome. We previously reported that patients treated with foscarnet lived
48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.
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Přihlášení Registrace
A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental
[A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA].
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Přihlášení Registrace
We report a case of NARP with a T-to-C point mutation at nt 8993 of mitochondrial DNA. A 37-year old man with mild mental retardation, retinitis pigmentosa, and clonic-tonic seizure was admitted to our hospital. The neurological examination revealed scanning speech, dystonic neck turning to the left
Hashimoto's encephalopathy in association with retinitis pigmentosa - First reported case
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Přihlášení Registrace
Hashimoto's Encephalopathy (HE), also known as steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT), is a proteiform disorder known for its wide spectrum of presentations from subtle neuropsychiatric manifestations, movement disorders, seizures, stroke-like episodes to
NARP syndrome and adult-onset generalised seizures.
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Přihlášení Registrace
The neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder attributable to a heteroplasmic mtDNA point mutation. Catastrophic epilepsy may accompany severe, early onset forms of NARP, but seizures seem to be rare in cases with adolescent and
A randomized, controlled trial of foscarnet in the treatment of cytomegalovirus retinitis in patients with AIDS.
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OBJECTIVE
To evaluate foscarnet sodium in treating cytomegalovirus retinitis in patients with AIDS.
METHODS
Twenty-four previously untreated persons with AIDS and cytomegalovirus retinitis who were at low risk for loss of their visual acuity.
METHODS
PATIENTS were randomly assigned to receive either
[Toxoplasmic encephalitis and cytomegaloviral retinitis in a non-AIDS patient with chronic renal failure undergoing corticosteroid therapy].
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We report a rare case of toxoplasmic encephalitis in a non-AIDS patient A 62-year-old man undergoing hemodialysis for seven months and corticosteroid therapy for rapidly progressive glomerulonephritis and admitted for generalized convulsions was found in cranial magnetic resonance imaging (MRI) to
Concurrent use of foscarnet and ciprofloxacin may increase the propensity for seizures.
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Přihlášení Registrace
OBJECTIVE
To report a possible interaction between foscarnet and ciprofloxacin in two patients with AIDS, cytomegalovirus (CMV) retinitis, and disseminated Mycobacterium avium complex (MAC) infection and to review the available literature related to foscarnet-associated seizures.
METHODS
Case report
Approaches to the treatment of cytomegalovirus retinitis: ganciclovir and foscarnet.
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Přihlášení Registrace
Both ganciclovir, a nucleoside analogue, and foscarnet, a pyrophosphate analogue, specifically bind cytomegalovirus (CMV) DNA polymerase and inhibit CMV replication at plasma concentrations achievable with intravenous administration. The agents have similar plasma half-lives, and both are cleared
Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis.
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BACKGROUND
Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS.
METHODS
A 21-year-old woman presented with
Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14.
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Přihlášení Registrace
Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia,
Acanthocytosis and neurological disorders.
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Přihlášení Registrace
Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In
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