retinitis pigmentosa/povraćanje

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Familial neuropathy with dementia, retinitis pigmentosa, and dysautonomia.

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We studied a 59-year-old woman with dementia, retinitis pigmentosa, sensorimotor neuropathy, and attacks of vomiting associated with blood pressure lability and loss of consciousness. Abnormalities included CT evidence of cerebral atrophy, low IQ, slow central and peripheral nerve conduction

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).

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Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle, vision was recently successfully restored by oral administration of 9-cis-retinyl acetate (QLT091001). Safety and visual outcomes of a once-daily

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

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A 9-year-old girl and an 11-year-old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

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Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and

Defects in mitochondrial fatty acid oxidation: clinical presentations and their role in sudden infant death.

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Defects in mitochondrial beta-oxidation may result in severe metabolic crisis after metabolic stress. The combination of hypoketotic hypoglycaemia and concurrent collapse of mitochondrial metabolic function may be very similar to that in Reye syndrome. Chronic effects on cardiac and skeletal muscle

Radiology Case of the Month: Idiopathic CD4 Lymphocytopenia.

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A 39 year-old male with a history of diabetes, retinitis pigmentosa, and genital warts presented with intractable occipital headaches accompanied with nausea and vomiting. The patient had markedly depressed CD4 counts. Furthermore the patient tested negative for HIV and HTLV 1/2 and had normal

[Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report].

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We report a 56-year old female with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), presenting with protein-losing gastroenteropathy and serum copper deficiency. There was no neuromuscular disease in her family members. Three years prior to admission, she developed severe

Potassium iodate retinopathy.

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A case of potassium iodate toxicity in a 22-year-old man was reported. After taking a solution of highly concentrated potassium iodate, the patient developed nausea, vomiting, diarrhea and blurred vision. The visual acuity was hand motion in both eyes. The funduscopic examination showed retinal

Acute pancreatitis: a rare complication in a patient with senior loken syndrome.

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BACKGROUND Senior-Loken syndrome is a rare entity that combines familial nephronophthisisand retinal dystrophy. It has an autosomal recessive inheritance pattern and is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the first or second decades

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

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TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). We investigated four patients from two families with infantile-onset cyclical, aseptic

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