Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 27-year-old woman has been suffering from recurrent corneal edema without ocular hypertension since her early childhood. When the cornea is clear, visual acuity-with correction for high myopia-is 5/10 to 5/15 and Nieden I; when the cornea is swollen, it decrease to 5/50 and 1/10, respectively, and Nieden VII. Furthermore, there is an atypical pigment degeneration of the retina combined with deafness, a progressive ptosis since her 10th year of life, and a progressive dystrophy of the outer eye muscles, having developed in the past few years. In addition, the mentally normal developed patient presents a proportional dwarfism (no dysostosis) and a diabetes mellitus. This combination of symptoms is compared with the well known Bardet-Biedl syndrome and the De Grouchy syndrome and is found to constitute a new syndrome.
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PMID:[Recurrent corneal edema without ocular hypertension, pigment degeneration combined with deafness, progressive dystrophy of the outer eye-muscles in a patient with proportional dwarfism and diabetes mellitus (author's transl)]. 30 14

468 placentas were studied microscopically and by gross examination. Velamentous insertion of the umbilical cord, placenta circumvallate, retroplacental hematoma in connection with ablation of the placenta, and cord prolapse were found to be causative factors in asphyxia of the newborn. The increased placental weight was characteristic in maternal diabetes, hepatosis and, sometimes, in cases of infant malformations and specific inflammations. So-called embryonal persistence was often found histologically in these changes. Small fibrous placentas and those with ramification defects were commonly encountered among cases of toxemia and prolonged gestation. Microscopical placental maturation defects were not indicative of the fetal condition. Thus, only the changes found at gross examination appeared to be a significant indicator of the fetal prognosis.
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PMID:Placenta as an indicator of fetal postnatal prognosis. 45 69

To our knowledge, the juvenile form of spongy degeneration of the CNS (SD-CNS); van Bogaert-Bertrand disease) has been described previously only three times. We report the case of 21 1/4-year-old Japanese woman who was first seen at the age of 11 with growth retardation, ptosis, and ophthalmoplegia. Her progressive neurodegenerative disease included retinitis pigmentosa, blindness, partial deafness, cerebellar dysfunction, hyporeflexia, and muscle wasting. Simultaneous endocrine defects were diabetes mellitus and probable hyperaldosteronism. Heart block developed later. She died of bronchopneumonia. Autopsy showed CNS stigmas typical of spongy degeneration. Additional findings included peripheral nerve demyelination, neurogenic muscle atrophy, pituitary and pancreatic atrophy, right adrenal agenesis, and a left adrenal coritcal lipid-cell adenoma. To our knowledge, our patient was the oldest survivor, the first patient of Japanese ancestry, and had a unique concurrence of certain oculoendocrine defects.
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PMID:Spongy degeneration of the CNS: an instance of the rare juvenile form. 50 59

To minimize the risk of visual loss in diabetic patients, recognition of early signs of oculopathy is essential. Diabetes-associated third-nerve palsy is manifested by unilateral ptosis and exotropia. Symptoms of closed-angle glaucoma are intense pain, halos around lights, and blurred vision. Open-angle glaucoma does not necessarily produce symptoms and is treated medically. A gradual decrease in visual acuity, sometimes associated with photophobia and difficulty in night driving, and monocular diplopia, are manifestations of cataract. The patient with "background" retinopathy usually complains of blurred or distorted central vision. Once the macula is involved, vision progressively decreases. Although the relationship of metabolic control to retinopathy has not been settled, evidence indicates that good medical control of the disease may delay onset of vascular complications.
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PMID:Four common ocular complications of diabetes--and how to treat them. 71 Aug 91

The case is presented of a girl with the banded karyotype 46,XX,del(13)(q22) and a phenotype of severe mental and growth deficiency, mongoloid slant of palpebral fissures, ptosis, hypertelorism, microcephaly, microstomia, micrognathia, nystagmus, gothic palate, uvula fissa, low-set malformed ears, short fingers, pedes excavati, dislocation of hips and diabetes insipidis. Both parents have a normal phenotype and karyotype.
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PMID:Deletion of long arms of chromosome 13. 115 Feb 47

It is not unusual to observe in the same eye a chronic glaucoma and a cataract. Surgery may be indicated for one of these diseases separately or for both of them. For simultaneous operation on glaucoma and cataract several attitudes could be discussed: a) cataract surgery and medical treatment of glaucoma, b) glaucoma surgery at first and then cataract surgery, c) cataract and glaucoma surgery at the same time. Since trabeculectomy is used for glaucoma surgery, the author performs the combined method, i.e. the simultaneous lens extraction and the operation of glaucoma through trabeculectomy. The advantages of trabec-lectomy over the other techniques for glaucoma surgery indicated that trabeculectomy over the other techniques for glaucoma surgery indicated that trabeculectomy is the best technique to be used in association with intracapsular cataract extraction. Our material consists of 65 patients, amongst which there are 11 patients with diabetes. 91 eyes have been operated upon during the last 2 years. Most of the postoperative complications, i.e. hyphaema, vitreous haemorrhage and prolapse, pupillary block, postoperatve rise of i.o. pressure are not severe and have no influence in the desired fall of i.o. pressure. It may be pointed out that a permanent regulation of i.o. pressure often occurs only 3 months postoperatively. Finally it can be said that the trabeculectomy associated with intracapsular cataract extraction appeared to be the best operation in case of glaucoma and cataract, provided that on the one hand the vascular status of these patients is controlled and on the other hand the operation microscope is exclusively used in surgery of the trabeculum.
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PMID:[Cataract surgery and trabeculectomy at the same time (author's transl)]. 120 32

Since Fincher reported a case with arteriovenous fistula between the external carotid artery and dural sinus, many type of cases have been reported. On the other hand, so called the external carotid avernous fistula has been recognized less 20 cases in literature. We have observed three additional cases of dural arteriovenous shunts in the region of the cavernous sinus. Case 1. A 52 year old woman had suffered from left side sever headache. There was weakness of the left extraocular muscles and left ptosis. A bruit was heard over the left orbit. She was treated for hypertension since 38 year old. And she has no history of recent trauma. Selective internal and external carotid angiographies showed the bilateral external carotid cavernous sinus fistula. No operative treatment was performed in this case and the symptomes disappeared with decrease of blood pressure. Case 2. A 50 year old man came to this clinic with chief complaints of right ptosis, diplopia and headache. He was treated for diabetes mellitus and hypertension for six month...
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PMID:[Three cases of spontaneous bilateral external carotid-cavernous sinus fistula (dural arteriovenous shunts in the region of the cavernous sinus) (author's transl)]. 123 13

A girl of 10-5/12 years is described, who had diabetes mellitus from the age of 5 years on and who developed bilateral ptosis, pigment degeneration of the retina and bilateral impairment of hearing at the age of nine years. A few weeks before death she suffered from an acute gastrointestinal infection which was successfully treated by a hydroxyquinoline derivative. In the days following a severe encephalopathy and signs of cardiac involvement appeared. A month later the girl died of bulbar paralysis and acute heart failure. Histology showed remnants of a granulomatous inflammation in the heart, the kidneys, the pancreas and the skeletal muscles. Furthermore there was a widespread spongiosis in the white substance of the brain, with large astrocytes, and partly also in the basal ganglia, the brain stem and the cerebellum. Foci of sudanophilic tissue necrosis resembling Wernicke's Encephalopathy were found in the medulla oblongata and the spinal cord. The peripheral nerves appeared partially demyelinated and showed axonal lesions. This case is classified as a Juvenile Type of so-called Canavan's Disease. It shows some resemblence to the "Progressive Chronic Ophthalmoplegia with Spongiform Encephalopathy described by Daroff, Kearn and Sayre. The possible neurotoxical effects of the hydroxyquinoline therapy are discussed.
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PMID:[Juvenile spongy dystrophy of CNS with necrosis of the medulla. A. complication of hydroxyquinoline therapy (author's transl)]. 124 13

Without treatment, about 60% of atrial arrhythmia patients suffer a relapse within 3 months and 70% within one year. Antiarrhythmic treatment intended to reduce this percentage is therefore justified, on condition that it is well tolerated. Several preliminary questions have to be settled before this medical prophylaxis: 1) Justification of antiarrhythmic treatment (sometimes pointless to deal with very occasional episodes); 2) Treatment of the underlying heart disease (valve disease, cardiothyrotoxicosis, etc.) or promoting factors (potassium depletion etc.); 3) Accurate assessment of any associated conduction abnormalities, which may constitute a contraindication to antiarrhythmic treatment (WPW syndrome in the case of verapamil and the digitalis-like drugs) or require additional treatment (pacemaker); 4) Definition of the mechanism (vagal or sympathotonic) inducing arrhythmia; 5) Evaluation of the hemodynamic parameters of the underlying heart disease (size of the atria, ventricular function, coronary or valvular lesions) which may limit the efficacy of the treatment. Once these parameters have been identified, the primary treatment should be type la or lb antiarrhythmics, which have been shown to be effective, despite the fact that they are not without arrhythmic risks (the Ib antiarrhythmics are less effective and have a poor safety profile). The beta-blockers have preferential indications (hypersympatheticotonia, hyperthyroidism, hypertrophic myocardiopathy, mitral prolapse, angina etc.) and can be replaced by verapamil or bepridil if there are non-cardiac contraindications (ulcers, asthma, diabetes). Amiodarone is extremely effective, but its poor extracardiac safety restricts its long-term use. Complementary treatments (digitalis-like, anticoagulants or anti-PAF and cardiostimulant drugs) should be added if necessary. Recurrences (to be confirmed by ECG or Holter) should lead to rigorous confirmation of therapeutic compliance and observance of simple hygienic and dietary measures (no excessive exertion, elimination of stimulants etc.). With strict clinical and ECG monitoring, it would then be possible either to increase the dose levels (accompanied by plasma determinations if possible) or to switch to a treatment with more effective, but more aggressive drugs (amiodarone, flecainide) or to use drug associations (la and lb, la and II etc.). Repeated failure of such attempts should lead to a non-medical approach to treatment.
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PMID:[Preventive drug therapy of recurrence of atrial fibrillation]. 129 92

Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a pluritissular disorder including diabetes mellitus, skin abnormalities, mitochondrial myopathy with ragged-red fibers, and cerebellar ataxia. Their mother had ptosis, ophthalmoplegia, and muscle weakness. Analysis of the mitochondrial respiratory chain showed a complex III deficiency in both skeletal muscle and lymphocytes of the second girl. Southern blot analysis provided evidence for a heteroplasmic partial duplication of the mtDNA (26 kb), involving one full-length and one partly deleted mitochondrial genome and with one single abnormal junction between the genes for ATPase 6 and cytochrome b. Using PCR amplification of lymphocyte DNA, we were able to detect minute amounts of duplicated molecules in the mother, which provided evidence for maternal inheritance of the partial duplication. While maternal transmission of point mutations have been reported in Leber disease, retinitis pigmentosa, and MERRF disease, this observation is, to our knowledge, the first example of a maternally inherited duplication of the mitochondrial genome in man.
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PMID:Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. 153 Nov 67


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