Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Data taken from 1221 patients attending the Zoster Clinic of Moorfields Eye Hospital over the past 15 years were used to characterise the clinical appearance and behaviour of zoster mucous plaque keratitis (MPK). The typical greyish branching plaques are usually accompanied by a limbitis, stromal keratitis, or decrease in corneal sensation and are commonly associated with cataract, raised intraocular pressure, or corneal ulceration. MPK may begin at any time within two years of onset of the rash, but when it appears after three months there are more complications. Usually MPK settles within one month if appropriate treatment with topical steroids and acetylcysteine drops is given, but surgical intervention is sometimes required to control glaucoma or neuroparalytic keratitis or to remove cataracts. The results of surgery are surprisingly good.
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PMID:Ophthalmic zoster: mucous plaque keratitis. 349 32

In 1814, George Maton, first recognized that a mild illness characterized by rash, adenopathy, and little or no fever was a discrete entity. Henry Veale, in 1866, named the disease rubella. The illness attracted little attention until 1942, when Norman Gregg noticed that first-trimester maternal rubella caused serious birth defects. The full spectrum and impact of rubella embryopathy remained unclarified until rubella virus was isolated in tissue culture in 1962 by two independent groups: Parkman, Buescher, and Artenstein; and Neva and Weller. Using the new tools of the virus laboratory, many investigators concentrated on the consequences of a severe rubella epidemic in 1964, which affected approximately 1% of pregnancies. Newly recognized transient manifestations of congenital rubella infection (CRI) include neonatal thrombocytopenic purpura, hepatitis, bone lesions, and meningoencephalitis and late-emerging sequelae such as diabetes mellitus and progressive rubella panencephalitis added to the cataract, heart disease, mental retardation, and deafness previously defined as due to CRI. Sharp contrasts were documented between the patterns of virus excretion and immune response of postnatal vs. congenital rubella. Licensure and widespread distribution of attenuated rubella virus vaccines in 1969 have prevented epidemic rubella. Pockets of illness remain, even in the United States. Continued effort will be required to eliminate the rubella problem.
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PMID:The history and medical consequences of rubella. 389 Jan 5

A new hereditary defect of tryptophan metabolism is described in a Sudanese family with a high degree of consanguinity. It has an autosomal recessive pattern of inheritance. The condition manifests as a pellagra-like skin rash within 8 weeks after birth, with signs of cerebellar ataxia and developmental retardation. Cataracts develop early, and to date none of the ten affected children has survived beyond 2 years of age. Biochemically, the condition is characterized by an apparent impairment of the ability to synthesize quinolinic acid and nicotinamide nucleotides from tryptophan, which might be due to abnormally high activity of the enzyme picolinate carboxylase.
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PMID:Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts. 405 88

Birth weights of 42 full-term patients with congenital rubella syndrome were analyzed. All of these infants were products of pregnancies in which the exact dates of the maternal first day of last menstrual period and of the time of onset of the mothers' rubella rash were known. The range of time of maternal rubella associated with low-birth-weight was in the gestational age interval from 16 to 100 days. Low-birth-weight may have a relationship with time of maternal rubella rather than with the type of defects, i.e., cataract, heart disease, and deafness.
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PMID:Low-birth-weight and congenital rubella syndrome: effect of gestational age at time of maternal rubella infection. 729 13

Herpes zoster ophthalmicus (HZO) may occur spontaneously, but can be precipitated by stress, trauma, debility or systemic illness. A case is here reported of Herpes zoster involving the contralateral eye, associated with a midline skin rash, following cataract extraction under local anaesthesia.
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PMID:Presumed ophthalmic herpes zoster after contralateral cataract extraction. 762 66

Herpes zoster ophthalmicus is a well-recognised cause of intraocular inflammation, which may become recurrent or chronic after the acute phase has elapsed. Although it commonly presents with the typical rash, cases of ocular zoster with no cutaneous eruption have been well documented. We present two patients with unilateral anterior uveitis complicated by cataract, in whom molecular techniques based on the polymerase chain reaction detected varicella-zoster virus DNA in intraocular material obtained during cataract surgery. Neither patient gave a history of cutaneous eruption.
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PMID:Detection of varicella-zoster virus DNA in ocular samples from patients with uveitis but no cutaneous eruption. 786 29

We studied the initial manifestations and late features in our lupus patients. The clinical data of patients fulfilling the American College of Rheumatology criteria for systemic lupus erythematosus (SLE) were entered prospectively for newly diagnosed patients and cumulatively for those with at least 10 years of disease duration. Ninety-seven Group A (newly diagnosed; 86 females and 11 males; mean age 31 years; 83 Chinese, 11 Malays, and 3 Indians) and 58 Group B (more than 10 years disease duration; 56 females and 2 males; mean age 41 years; 50 Chinese, 5 Malays, and 3 Indians) lupus patients were studied. The commonest clinical features in Group A were: haematological (73%), arthritis (57%), malar rash (43%), renal disorder (31%) and photosensitivity (30%). Group B patients had haematological (78%), malar rash (73%), arthritis (69%), renal disorder (59%) and photosensitivity (33%). Renal disorder was significantly increased over the years (P < 0.001). Hypertension was present in 18% (Group A) and 59% (Group B) (P < 0.00001), diabetes mellitus in 5% (Group A) and 10% (Group B) (P = ns), atherosclerosis in 2% (Group A) and 7% (Group B) (P = ns). Cataract formation was not present in Group A patients but was present in 10% of Group B patients. Renal disorders and morbidity factors like hypertension and cataracts increased significantly over the years. Optimum treatment of lupus patients should therefore include close attention to these factors.
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PMID:Systemic lupus erythematosus: initial manifestations and clinical features after 10 years of disease. 928 16

Many infants with intrauterine growth retardation (IUGR) are screened for TORCH infections. The yield and costs of such a practice may not be justifiable. Medical charts of infants with IUGR who had a workup for toxoplasmosis, other (infections), rubella, cytomegalovirus (infection), and herpes (simplex) (titer) (TORCH) infections were reviewed for the presence of clinical findings, laboratory and head ultrasound abnormalities associated with intrauterine infections. Maternal charts and reports of placental pathology were reviewed for identifying maternal illnesses and placental causes associated with IUGR. Seventy-five out of 182 infants (41%) with IUGR had a workup for TORCH infection. Maternal conditions associated with IUGR included: pregnancy-induced hypertension (19%), tobacco use (43%), alcohol abuse (21%), illicit drug use (24%), chronic hypertension, diabetic vasculopathy or collagen vascular disease (12%), and multiple gestation (3%). Placental pathology was available in 53/75 cases. Thirty-six of fifty-three (67%) placentae had abnormalities associated with IUGR: placental infarcts (22 of 36), vasculitis/villitis (15 of 36), placenta previa (1 of 36), abruptio placenta (2 of 36), and velamentous insertion of umbilical cord (1 of 36). Clinical findings among infants included hepatosplenomegaly, cataract or rash (1 of 75), thrombocytopenia and/or neutropenia and/or direct hyperbilirubinemia (11 of 75). Seven out of 75 infants had dysmorphic features. None of the infants (0 of 75) had positive IgM titers for toxoplasma, rubella, cytomegalovirus (CMV), or herpes simplex virus (HSV). No infants (0 of 43) had elevated total IgM titers; one infant (1 of 57) had a positive urine culture for CMV. One infant had evidence of calcifications on head ultrasound and a second infant had hydrocephalus (2 of 43). The costs associated with workup for TORCH infections among 75 infants included: TORCH titers determination: $17,816, total IgM titers: $1318, urine culture for CMV: $5734, and head ultrasound: $28,165. The yield of workup for TORCH infection among infants with IUGR is poor and does not justify the incurred costs.
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PMID:Yield and costs of screening growth-retarded infants for torch infections. 1101 37

Dexamethasone-cyclophosphamide pulse (DCP) is the prefered mode of therapy in pemphigus in India because it is relatively free from the side effects seen with heavy doses of daily oral steroids. One hundred forty-six pemphigus patients treated with DCP were observed for side effects of this regimen. One hundred forty mg of dexamethasone was administered IV in 200 ml of 5% dextrose over a period of 60-90 minutes on 3 consecutive days. Five hundred mg of cyclophosphamide was added on first day of the pulse and 50 mg given orally daily in the intervening period. DCP was repeated every 4 weeks and continued for 6 months after subsidence of the disease (no new lesions). Flushing over the face was the most common event recorded during the adiministration in 78 subjects followed by palpitations in 11, hiccups in 9, and numbness of feet in 6. Fourteen patients had polyurea, and 3 developed skin rash. Shivering, shooting pains along thighs, breathlessness, seizure and unilateral limb edema were observed in one patient each. Generalized weakness/malaise was the most troublesome delayed side effect in 81 (55.4%) patients; it lasted for 8-15 days after the pulse. Thirty-six (24.6%) had inadequate sleep syndrome, 23 (15.7%) had headache, 21 (14.3%) complained of arthralgias, 19 (13%) experienced alteration in taste, and 13 (9%) had diffuse hair loss. 28 females developed menstrual disturbances, and 14 (9.5%) had blurring of vision (glaucoma in 3 and posterior subcapsular cataract in 1). Thirteen of eighteen diabetics had an increase in blood sugar requiring higher doses of insulin. Five NIDDM patients needed insulin. Four (2.7%) developed hypertension. Pulse therapy is not absolutely free from side effects. Hypertension and diabetes occur less frequently as compared to conventional steroid therapy. Generalized weakness, flushing, headache and taste alteration occur exclusively with pulse therapy.
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PMID:Immediate and delayed complications of dexamethasone cyclophosphamide pulse (DCP) therapy. 1468 52

A novel syndrome initially presenting with cataract and developmental delay within an Indigenous Australian family is described. We present the extended four generation pedigree and describe in detail the phenotypic appearance of five clearly affected male second cousins in this family. The common features of these children include developmental delay, short stature, cortical cataract, facial dysmorphism, clinodactyly, thin hair and an erythematous skin rash. Initial inspection of the pedigree suggested an inherited disorder with possible X-linked inheritance. However, a thorough scan of the X chromosome failed to reveal linkage. This family represents a new syndrome of familial cataract, dysmorphic features, short stature and developmental delay with probable autosomal inheritance and variable expressivity.
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PMID:A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family. 1929 67


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