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 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report epidemiologic, clinical, laboratory, and biopsy findings in 14 cases of nephropathia epidemica. The patients were between 19 and 49 years of age. The onset of the disease was characterized by high fever, nausea, headache, backache, abdominal pain, proteinuria, oliguria, hematuria, and uremia. The symptoms subsided rapidly during the polyuria phase, which followed the oliguria stage. Because of renal failure, hemodialysis was required in eight cases. Edema of eyelids, conjunctival injection and hemorrhages, transitory myopia, and acute glaucoma were the most common eye abnormalities. Renal biopsy specimens showed glomerular changes, with mild swelling of the epithelial cells of Bowman's capsule, thickening of the basement membrane of glomerular capillaries, glomerular adhesions, inflammatory cell infiltration, leukocytoclasis and hemorrhages in the interstitium, and eosinophilic hyaline degeneration and vacuolization of the epithelial cells of the proximal tubuli.
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PMID:Nephropathia epidemica. The Scandinavian form of hemorrhagic fever with renal syndrome. 1 20

Retinal vascular manifestation is the most common form of ophthalmic involvement in patients with systemic lupus erythematosus (SLE). Most frequently these consist of cotton-wool spots with or without intraretinal hemorrhages. Although rare, a more severe retinal vaso-occlusive disease, termed retinal vasculitis, has been described. We report on a 37-year-old white female with a 13-year follow-up of chronic discoid lupus erythematosus, which suffered massive bilateral visual loss coincident with the systemic exacerbation of her disease (proteinuria, pneumonia, serositis, leucopenia). The diagnosis of SLE was established with reference to the revised ARA-criteria (American Rheumatism Association). Ophthalmoscopy and fluorescein angiography revealed the typical aspect of a SLE-associated vaso-occlusive retinopathy on both eyes with marked ischemia of the macula. Immediate maximal immuno-suppressive therapy, early performed panretinal photocoagulation and subsequent cryoretinopexy did not stop the progression of the disease. Six months after the initial event vascularisations of the disc and rubeosis iridis occurred, but no secondary glaucoma up to date. In this patient, the almost complete absence of characteristic autoantibodies and immunological markers was striking. The correlation with other lupus manifestations, different therapeutic concepts and prognostic factors in SLE-associated retinal vasculitis are discussed.
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PMID:[Severe occlusive bilateral retinal vasculitis within the scope of seronegative systemic lupus erythematosus]. 147 91

The course of 6 patients with childhood systemic lupus erythematosus was analysed with emphasis on the effect and limitation of intravenous methylprednisolone pulse therapy in the long-term follow-up. The present findings suggest that using pulse therapy within 2 months in the course of disease flares, probably before irreversible organ damage has occurred, may be more beneficial in suppressing the disease activity and maintaining long-term remission. The demonstration of low serum complement activity (CH 50), and in some cases, proteinuria, was useful to decide the time of pulse therapy. Complications of pulse methylprednisolone plus long-term oral prednisolone therapy included cushingoid appearance and low body height in addition to cataract and glaucoma, all of which were attributable not to methylprednisolone pulse therapy alone but to long-term accumulation of corticosteroids. The combination therapy including several immunosuppressants needs to be established in order to avoid these steroidal complications.
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PMID:[Effect and limitation of intravenous methylprednisolone pulse therapy in the long-term follow-up of childhood systemic lupus erythematosus]. 152 23

A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, mental retardation, and proteinuria, is reported. A balanced X;20 chromosomal translocation with the X chromosome breakpoint at q26.1 was found with high-resolution trypsin-Giemsa banding. Somatic cell hybridization was used to separate the X chromosome derivative and the chromosome 20 derivative in order to position, with respect to the translocation breakpoint, several DNA loci that are linked to the Lowe syndrome locus (Xq24-q26). DXS10 and DXS53 were found to be distal to the breakpoint, whereas DXS37 and DXS42 were located proximal to it. These studies suggest that the OCRL locus lies in the region between these probes. The translocation chromosome originated from an unaffected male without a visible translocation, indicating that the most likely cause of OCRL in this patient is the de novo translocation that disrupted the OCRL locus.
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PMID:Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. 189 26

A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral cataracts, glaucoma, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis. There was also severe epileptic activity (Lennox-Gastaut syndrome). The neuropathological examination revealed a marked cerebellar atrophy and central chromatolysis in the cerebral cortex. These observations do not confirm the hypothesis of dysmyelination as formulated in previous studies. The reported case rather suggests the existence of a dynamic process starting as a still-undefined metabolic abnormality that, in turn, causes various and inconsistent lesions at the microscopic level.
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PMID:Lowe syndrome: clinical and neuropathological studies of an adult case. 207 36

The relationship of survival to systemic and ocular factors in diabetic persons was studied using data collected as part of the Wisconsin Epidemiologic Study of Diabetic Retinopathy. Six years after the baseline examination, 9.5% of 996 insulin-taking people who were younger than age 30 years when their diabetes was diagnosed (younger onset) had died. Of 1370 people whose diabetes was diagnosed after age 30 years (older onset), 35.3% had died. After adjusting for age and sex, longer duration of diabetes, presence of proteinuria, a history of cardiovascular disease, higher blood pressure, diuretic use, a history of smoking, poorer visual acuity, and more severe retinopathy were significantly associated with decreased survival in both groups. Glaucoma was associated with decreased survival in the younger onset group and cataract in the older onset group. These findings suggest that some ocular complications are important risk indicators for death. Their presence in diabetic patients suggests the need for frequent examinations to detect systemic complications and to intervene to minimize their effect.
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PMID:Relation of ocular and systemic factors to survival in diabetes. 291 72

We report ophthalmological findings in 15 cases of nephropathia epidemica. The patients, 13 men and 2 women, were 20 to 62 (mean 30) years of age. The onset of the disease was characterized by high fever, nausea, headache, abdominal pain, backache, somnolence, red throat, proteinuria, and oliguria. The symptoms subsided rapidly during the polyuria stage. Transitory myopia occurred in 8 patients (53%). Conjunctival injection and haemorrhages were seen in 3 patients (20%). One patient had acute glaucoma with oedema in the cornea and shallowing of the anterior chamber, with subsequent anterior uveitis and haemorrhages in the ocular fundus, and another patients had acute glaucoma. Three patients had photophobia which occurred in 2 patients without any glaucoma or anterior uveitis.
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PMID:Ophthalmological findings in nephropathia epidemica in Lapland. 653 41

Since diabetes is a major health problem in Malta a study was conducted to gain a better insight into one of its most common complications, that of retinopathy. A random sample of 200 cases of adult onset diabetes with retinopathy who attended the main hospital's diabetes clinic was assessed by an experienced ophthalmologist. Non-proliferative retinopathy was subdivided into three degrees of severity according to the number of microaneurysms, haemorrhages, exudates, and intraretinal microvascular abnormalities present while proliferative retinopathy included also advanced eye disease. Data on medical and family histories was gathered from personal interrogation and counterchecked from hospital files. A medical examination searched for other concomitant disease. The 124 females and 73 males were similarly aged with a mean of 59.5 +/- 11.5 years. The mean age at onset of diabetes was 44.4 +/- 7.9 years: no significant differences were seen between the grades of retinopathy or the sexes. Onset of eye disease was first detected at a mean age of 56.9 +/- 7.0 years. The great majority (82%) of retinopathy cases occurred after 10 years of diabetes. Males appeared to develop eye disease (especially non-proliferative) at a younger age (53.4 +/- 7.6 vs 58.9 +/- 6.6 years, p < 0.01) and after a shorter duration of diabetes (10.1 +/- 6.6 vs 14.0 +/- 7.8 years, p < 0.001) than females. Severity of retinopathy was strongly associated (p < 0.001), in females rather more than in males, with poor glycaemic control, use of insulin, presence of proteinuria and decreasing vision; and less markedly (p < 0.01) with duration of diabetes of more than 10 years, neuropathy and glaucoma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Retinopathy in Maltese type 2 diabetic patients. 764 10

The Lowe syndrome, or oculocerebrorenal syndrome, is a rare X-linked recessive hereditary disease which typically involves three major systems including ocular defects (congenital cataracts, glaucoma, searching nystagmus), central nervous system defects (generalized hypotonia with decreased or absent deep tendon reflex and severe mental retardation), and renal dysfunction (progressive renal tubular dysfunction with acidosis and hyperaminoaciduria). Less than 200 cases have been reported in the English literatures since 1952. This article presents the first case of Lowe syndrome in Taiwan. Patient was a newborn who was born with congenital cataracts, glaucoma, generalized hypotonia with areflexia. In following laboratory studies showed early manifestations of renal tubular dysfunction with metabolic acidosis, proteinuria, glycosuria, phosphaturia and generalized hyperaminoaciduria (19 types). CT of brain showed an arachnoid cyst about 4.5 x 5 cm in size below the cerebellar tentorium. Large amount of copper, about 20-30 times above normal range, was detected in the urine. To our knowledge, Lowe syndrome associated with hypercupriuria and arachnoid cyst has not been reported in the past. Whether hypercupriuria is a part of the entity of this disease or prodromal stage of Wilson's disease is obscure. Further investigation and long-term observation are necessary to draw any conclusion.
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PMID:[Lowe syndrome: report of one case]. 833 87

The nail-patella syndrome (NPS), also known as hereditary onychoosteodysplasia (HOOD), is a hereditary disorder with an autosomal dominant mode of inheritance involving nails, bones and other tissues. It is characterized by onchodysplasia of the finger nails (most prominent on the thumb and index finger) and V-shaped lunulae. Extraosseous manifestations include ocular (glaucoma, microcornea) and renal involvement (proteinuria, nephrotic syndrome). A variety of skeletal anomalies can be observed. We report a 59 year old male with NPS. In addition to dysplastic patellae and elbow joints and the pathognomonic posterior iliacal horns, he had involvement of humerus, radius, ulna. and finger bones, leading to early and painful degenerative changes. Furthermore, microproteinuria was noted. Early diagnosis of NPS is important to prevent early secondary arthrosis and severe renal damage.
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PMID:[Skeletal anomalies in nail-patella syndrome. Case report and overview]. 937 40


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