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At least 433 records · Page 24Linked to original sources
PubMed1998

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.

Dominant optic atrophy, a hereditary optic neuropathy causing decreased visual acuity, colour vision deficits, a centro-caecal scotoma and optic nerve pallor, has been mapped to a genetic interval of 1.4 cM between loci D3S3669 and D3S3562 on chromosome 3q28-qter. In order to further refine the critical disease interval, and to test the power of haplotype analysis and linkage disequilibrium mapping, we identified a total of 38 families with dominant optic atrophy, unrelated on the basis of genealogy, from a data base of genetic eye disease families originating from the British Isles. They were studied with 12 highly polymorphic microsatellite markers spanning a region of 12 cM around the dominant optic atrophy locus (OPA1). Allelic frequency analysis [chi-squared test, likelihood ratio test (LRT) and P values] and haplotype parsimony analysis showed evidence of a founder effect in 36 of the 38 pedigrees. Six markers (D3S3669, D3S1523, D3S3642, D3S2305, D3S3590 and D3S3562), spanning 1.4 cM across the disease-associated region, demonstrated significant linkage disequilibrium by LRT (P < 0.05). A peak LRT value of 10.86 (P < 0.0005, lambda = 0.4) occurred at D3S3669. On linkage disequilibrium multipoint analysis the maximum lod score of 8.01 is achieved at D3S1523, and 95% confidence intervals suggest that OPA1 lies within ca. 400 kb of D3S1523.

Alleles↗
PubMed2001

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Dominant optic atrophy (DOA) is a hereditary optic neuropathy characterised by decreased visual acuity, colour vision deficits, centro-coecal scotoma and optic nerve pallor. The gene OPA1, encoding a dynamin-related GTPase, has recently been identified within the genetic linkage interval for the major locus for DOA on chromosome 3q28 and shown to harbour genetic aberrations segregating with disease in DOA families. The prevalence of the disorder in Denmark is reported to be the highest of any geographical location, suggestive of a founder effect. In order to establish the genetic basis of disease in a sample of 33 apparently unrelated Danish families, we screened DNA from affected members for OPA1 gene mutations by heteroduplex analysis and direct sequencing. A novel identical mutation in exon 28 (2826delT) was associated with DOA in 14 pedigrees and led to a frameshift and abnormal OPA1 protein -COOH terminus. Haplotype analysis of a region of approximately 1 Mb flanking the OPA1 gene using eight polymorphic markers revealed a common haplotype shared by all 14 patients; this haplotype was markedly over-represented compared with ethnically matched controls. Statistical analysis confirmed significant linkage disequilibrium with DOA over approximately 600 kb encompassing the disease mutation. We have therefore demonstrated that the relatively high frequency of DOA in Denmark is attributable to a founder mutation responsible for approximately 42% of the examined families and suggest that presymptomatic screening for the (2826delT) mutation may facilitate diagnosis and genetic counselling in a significant proportion of DOA patients of Danish ancestry.

Alleles↗
PubMed2002

Immunocytochemical localization and ontogenic development of melanin-concentrating hormone in the brain of a pleuronectiform fish, the barfin flounder.

Melanin-concentrating hormone (MCH) was first discovered in the pituitary of chum salmon because of its role in the regulation of skin pallor. Later, it was found that MCH could also play a role as a central neurotransmitter or neuromodulator in the brain. However, knowledge of the function of MCH in fish has been restricted to certain fish species. Therefore, in the present study, the immunocytochemical localization and ontogenic development of MCH in the brain of a pleuronectiform fish, the barfin flounder Verasper moseri, were examined to obtain a better understanding of this hormone. In adult barfin flounder, MCH-immunoreactive (ir) neuronal somata were most prevalent in the magnocellular neurons of the nucleus tuberis lateralis (NLT), which project to the pituitary. In the pituitary, MCH-ir fibers were distributed in the neurohypophysial tissues within the pars intermedia and, to a lesser extent, into the pars distalis. MCH-ir neuronal somata were also present in dorsally projecting parvocellular neurons, located more posteriorly in the area above the lateral ventricular recess (LVR). LVR-MCH neurons did not seem to project to the pituitary. In the brain, MCH-ir fibers were detected not only in the hypothalamus but also in areas such as the optic tectum and thalamus. MCH-ir neuronal somata and fibers were not detected on the day of hatching. MCH-ir neuronal somata and fibers were first detected in the hypothalamus and the pituitary, respectively, 7 days after hatching. Subsequently, MCH-ir neuronal somata were observed in the NLT and in the area above the LVR 14 days after hatching. The distribution of MCH-ir neuronal somata and fibers showed a pattern similar to that in the adult fish 35-42 days after hatching. These results indicate that MCH neurons were located in the NLT and in the area above the LVR and that NLT-MCH neurons project to the pituitary. MCH neurons were first detected 7 days after hatching, suggesting that MCH plays some physiological role in the early development of barfin flounder.

Age Factors↗
PubMed2004

Snakebite-induced acute renal failure. A case report and review of the literature.

Snakebite is not an uncommon cause of acute renal failure (ARF) in developing countries. We report a12-year-old boy who presented with oliguric ARF following snakebite. He had pallor, icterus, generalized edema, hypertension, and was oliguric. Investigations revealed severe azotemia, microangiopathic hemolytic anemia, thrombocytopenia, prolonged coagulation parameters, and raised fibrin degradation products, suggesting disseminated intravascular coagulation as the cause of ARF. The patient improved with antisnake venom, dialysis, and other supportive treatment.

Acute Kidney Injury↗
PubMed2001

Post-dysenteric hemolytic uremic syndrome in Bulawayo, Zimbabwe.

An outbreak of dysentery in Zimbabwe was associated with a high mortality, especially in children who developed hemolytic uremic syndrome (HUS). To examine the causes of high mortality from HUS and to suggest measures that could reduce the case fatality rate, clinical and laboratory features of 91 children with dysentery were reviewed. Of these, 14 developed HUS; their findings were compared with age-matched controls with dysentery only. Persistent alteration of consciousness after rehydration, pallor, and oliguria were early clinical indicators of HUS. Leukocytosis and leukemoid reaction, microhematuria, and non-resolving hyponatremia distinguished children with HUS from those with dysentery. While Shigella dysenteriae type I was responsible for the dysentery outbreak in the community, most stool cultures of children with HUS were negative. Mortality from HUS was high. Late recognition of HUS and a lack of peritoneal dialysis could have contributed to the fatal outcome in some cases. Early recognition of HUS through close observation of children with dysentery and appropriate laboratory investigations with referral to a hospital, where peritoneal dialysis is available, should improve the outcome.

Case-Control Studies↗
PubMed2005

Clinical features, aetiology and short-term outcome of interstitial pneumonitis in HIV/AIDS patients at Bamrasnaradura Hospital, Nonthaburi, Thailand.

This prospective study was conducted at Bamrasnaradura Hospital from November 11, 2002, until January 5, 2003, in order to describe the clinical manifestations and determine the aetiologies as well as to assess the short-term outcome of interstitial pneumonitis in HIV/AIDS patients. 59 patients with interstitial infiltrates on chest radiographs were included in the study. Tuberculosis (TB) was the most common diagnosis (44%), followed by Pneumocystis pneumonia (PCP) (25.4%), bacterial pneumonia (20.3%) and fungal pneumonia (10.2%). In TB, compared to other diagnoses, a mild cough (p = 0.031), pallor (p = 0.021), lymphadenopathy (p < 0.001), an absence of skin lesions (p = 0.003), a higher mean body temperature (p = 0.004) and an absence of dyspnoea on exertion (p = 0.042) were significant findings. In PCP, compared to other diagnoses, dyspnoea on exertion (p = 0.014), nonpurulent sputum production (p = 0.047), a higher mean respiratory rate (p < 0.001), and an absence of lymphadenopathy (p < 0.001) were significant factors. In bacterial pneumonia, compared to other diagnoses, production of purulent sputum (p = 0.014), haemoptysis (p = 0.006), skin lesions (p = 0.002) and severe cough (p = 0.040) were significantly associated factors. In fungal pneumonia, compared to other diagnoses, headache and papulonecrotic skin lesions were common findings, but no factor showed a significant association. After four weeks, 59.3% patients were alive and 13.6% had died. Among those alive, 88.6% had clinically improved. The cumulative survival after 28 days was highest among PCP patients, followed by bacterial pneumonia, TB and fungal pneumonia, but these differences were statistically not significant (p = 0.453).

Acquired Immunodeficiency Syndrome↗
PubMed2005

Revision using distal inflow: a novel approach to dialysis-associated steal syndrome.

Current access-preserving treatment options for dialysis-associated steal syndrome (DASS) include fistula lengthening or banding and distal revascularization interval ligation (DRIL). We describe a novel technique for the treatment of DASS that we have termed revision using distal inflow (RUDI). Briefly, the technique involves ligation of the fistula at its origin followed by reestablishment of the fistula via bypass from a more distal arterial source to the venous limb. Four patients with brachial artery-based arteriovenous fistula and DASS underwent RUDI as described above using either the proximal radial or ulnar artery as inflow and vein as conduit. Patients were diagnosed with DASS based on the clinical findings of pain, pallor, loss of radial pulse, and sensorimotor dysfunction after creation of an AVF. Noninvasive vascular studies confirmed diminished finger pressures that improved with compression of the fistula. All patients experienced rapid resolution of their symptoms, although one patient complained of mild residual parasthesias. Follow-up ranging from 4 to 14 months has revealed patent functional fistulas. These initial results demonstrate that RUDI can be an effective treatment of DASS. By design, RUDI incorporates many of the advantages of established access-preserving procedures. That is, by using a smaller distal artery as inflow, RUDI lengthens the fistula, decreases the radius, and preserves antegrade flow in the brachial artery. In contrast to DRIL, it is the fistula, not the native arterial supply, that is placed at risk by ligation and revascularization. Consequently, we believe that RUDI may become the procedure of choice for DASS after brachial artery-based fistulas.

Adult↗
PubMed2001

Prevalence of Raynaud's phenomenon in general practice in the east of Spain.

Our aim was to establish the prevalence of Raynaud's phenomenon in a general practice in the east of Spain and compare our results with those of other studies performed in geographical areas with similar climatic characteristics. Two hundred and seventy-six subjects visiting their general practitioner for whatever reason were randomly selected from a particular area of the city of Valencia. Each was interviewed by their GP following the guidelines of a structured questionnaire to establish whether they had Raynaud's phenomenon or not. There were 205 women and 71 men. The mean age was 54.43, with a standard deviation of 18.22. Raynaud's phenomenon was present in nine subjects, two men and seven women, with a prevalence of 2.8% and 3.4%, respectively. Of the nine positives (mean age 60.56 years, standard deviation 16.38), two were diagnosed with hypertension and two with migraine. None of them usually took Raynaud's phenomenon-related drugs or performed physical exercise. No patient had a family history of Raynaud's phenomenon or had already been diagnosed with it. All the positive males were affected only by the pallor stage. This study shows lower prevalences than those of other studies performed in different geographical areas with similar climatic conditions.

Adolescent↗
PubMed2005

Typical pathological changes of CADASIL in the optic nerve.

Visual impairment due to retinal and optic nerve changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is more common than previously thought. Deposits of granular osmiophilic material (GOM) have been shown in the wall of retinal arterioles, though retinal infarcts and vascular occlusions have never been reported. Ischaemic optic neuropathy, on the other hand, has been reported in one case of CADASIL but no pathology reports of the optic nerve have been published. Here we report optic nerve morphological findings in the autopsy material of a 41-year-old woman with genetically assessed CADASIL. Longitudinal and transverse sections of optic nerves were examined. Classical histological methods (haematoxylin-eosin and Nissl) were performed. Diffuse pallor of myelin and rarefaction of optic nerve fibres were observed. Classical GOM was evident in the tunica media of vessels in the meninges and white matter. Arteriole lumina were slightly narrowed. In conclusion, the typical pathological changes of CADASIL occur in the optic nerve and may contribute to impairment of visual function in CADASIL.

Adult↗
PubMed2006

Retinitis pigmentosa, pigmentary retinopathies, and neurologic diseases.

Retinitis pigmentosa (RP) refers to a group of inherited retinal diseases with phenotypic and genetic heterogeneity. The pathophysiologic basis of the progressive visual loss in patients with RP is not completely understood but is felt to be due to a primary retinal photoreceptor cell degenerative process mainly affecting the rods of the peripheral retina. In most cases RP is seen in isolation (nonsyndromic), but in some other cases it may be a part of a genetic, metabolic, or neurologic syndrome or disorder. Nyctalopia, or night blindness, is the most common symptom of RP. The classic fundus appearance of RP includes retinal pigment epithelial cell changes resulting in retinal hypo- or hyperpigmentation ("salt-and-pepper"), retinal granularity, and bone spicule formation. The retinal vessels are often narrowed or attenuated and there is a waxy pallor appearance of the optic nerve head. Electroretinography will demonstrate rod and cone photoreceptor cell dysfunction and is a helpful test in the diagnosis and monitoring of patients with RP. A detailed history with pedigree analysis, a complete ocular examination, and the appropriate paraclinical testing should be performed in patients complaining of visual difficulties at night or in dim light. This review discusses the clinical manifestations of RP as well as describing the various systemic diseases, with a special emphasis on neurologic diseases, associated with a pigmentary retinopathy.

Humans↗
PubMed1978

The role of the central nervous system in chronic congestive heart failure.

Even though congestive heart failure is extremely common, the mechanisms responsible for the clinical manifestations remain a puzzle. The central and autonomic (sympathetic) nervous systems are responsible for a large part of the clinical manifestations. The role of the nervous system in CHF is discussed briefly. It is evident that there are many gaps in knowledge that remain concerning the role of the central, peripheral, and autonomic nervous systems in congestive heart failure. The peripheral vascular constriction, increase in venous tone and pressure, tachycardia, sweating, dermal pallor, and tension and anxiety in patients with CHF reflect generalized sympathetic nervous system activity and the influence of the central and autonomic nervous systems on the clinical syndrome of CHF.

Adrenal Cortex Hormones↗
PubMed1976

Optic neuropathy due to brain abscess.

A 26-year-old man went blind as part of a multifocal central nervous system disease. Bilateral optic nerve head pallor developed four weeks later. There had been no papilledema. In this setting, the appearance of optic atrophy without preceding papilledema in part led to the clinical diagnosis of severe disseminated encephalomyelitis. At autopsy multiple brain abscesses were found, including an area of inflammation within the chiasm.

Adult↗
PubMed1976

Clinical and ultrastructural ocular histopathologic studies of adult-onset metachromatic leukodystrophy.

A twin brother and sister with adult-onset metachromatic leukodystrophy developed progressive central acuity loss and optic disk pallor. Both had normal electroretinograms and fluorescein angiography. Postmortem examination of the sister's eyes by histochemistry and electron microscopy revealed ganglion cell loss and optic atrophy. Cerebroside sulfate had accumulated in optic nerve glial cells. Optic atrophy was more advanced than in previously reported cases of infantile-onset metachromatic leukodystrophy. The pathologic process seemed to be retrograde optic nerve degeneration due to abnormal myelin metabolism.

Adult↗
PubMed1979

Opticociliary veins in a primary optic nerve sheath meningioma.

A 59-year-old man developed painless visual loss in his left eye over a one-year period, with rapid progression to blindness over three months. Ocular examination of the left eye revealed proptosis, marked optic disk pallor, dilated retinal veins, and congeries of vessels at the disk margin (opticociliary veins). His right eye was unremarkable. Fluorescein angiography and histopathologic examination confirmed the presence of opticociliary veins communicating between branches of the central retinal vein and the adjacent choroidal vasculature. Primary orbital optic nerve meningioma associated with opticociliary veins was diagnosed.

Cranial Nerve Neoplasms↗
PubMed1979

Sudden occlusion of the retinal and posterior choroidal circulations in a youth.

A 14-year-old boy was stabbed above the left eye and had subsequent loss of both retinal and choroidal perfusion to the posterior segment. Ophthalmoscopic examination ten days after the injury disclosed intense nerve fiber layer edema, most prominent in the posterior pole, and absence of a cherry-red spot. Intravenous fluorescein angiography showed no filling of retinal vessels and only patchy, segmental, peripapillary choroidal filling, probably secondary to collateral circulation developing from the episcleral arterial plexus. Leakage of dye from the peripapillary choroid into the overlying retina was caused by ischemic necrosis of the retinal pigment epithelium. Follow-up examination 11 days later revealed marked sclerosis of the smaller arterioles, optic pallor, atrophic retinal pigment epithelial changes, and loss of retinal substance, most marked in the posterior pole.

Adolescent↗
PubMed1980

Pupil cycle time in optic nerve compression.

We measured pupil cycle time before and after treatment in 11 patients with compressive optic nerve disease. Nine patients had chiasmal tumors and two had optic neuropathy of Grave's disease. Pupil cycle time before treatment was abnormal in at least one eye of all patients and in each case, pupil cycle time improved or worsened in accordance with the response to treatment of the patient's visual acuity and visual fields. This suggests that the pupil cycle time may be used as a simple objective office test for following up patients with impaired optic nerve conduction as the result of optic nerve compression. This information is similar to that gained from visual evoked response and may be used together with other objective clinical data such as disk pallor, nerve fiber loss, and relative afferent pupillary defect.

Adenoma↗
PubMed1981

Pigmentary macular degeneration with multifocal necrotizing encephalopathy.

A previously healthy 10-year-old girl suffered sudden, binocular visual deterioration. During the next few years her neurologic and visual condition progressively worsened and she developed hypertension, seizures, ataxia, and lactic acidemia, leading to death at the age of 16 years. Bilateral optic disk pallor was followed by the loss of the foveal reflex and pigmentary maculopathy, manifested as disorganization of the retinal layers, loss of ganglion cells, degeneration of the photoreceptors and nuclei, and irregular infiltration of the retina by pigment epithelial cells. The optic nerves and tracts showed central axonal loss. Bilateral, multifocal symmetric areas of cerebral atrophy and necrosis of the neuropil and neurons in the cerebral cortex, basal ganglia, and thalamus were observed; neurons persisted in the dorsal medulla, despite neuropil degeneration.

Brain Diseases↗
PubMed1981

Unilateral nasal hemianopia as a sign of intracranial optic nerve compression.

A 52-year-old woman complained of progressive loss of vision in the right eye. Although the visual acuity was normal, there was a relative afferent pupillary defect, and a mild decrease in color vision, mild optic disk pallor, and a nasal field defect along the central vertical meridian. The left eye was normal. Craniotomy disclosed a giant right-sided carotid-ophthalmic artery aneurysm.

Carotid Artery Diseases↗