Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glaucomatocyclitic crisis is caused by an idiopathic inflammatory process of the trabecular meshwork, causing a decrease in aqueous outflow. This decrease causes the cyclitis-associated ocular hypertension. There is rarely any pain or other findings typically associated with glaucoma. Thus, the diagnosis is easily missed. Patients may present with nonspecific symptoms such as blurry vision or periorbital discomfort. Examination typically reveals a noninjected, slightly mydriatic eye. Slit-lamp examination may reveal fewer-than-expected inflammatory cells in the anterior chamber, with only occasional small nonpigmented keratic precipitates on the corneal epithelium. The intraocular pressure is typically increased (30 to 70 mm Hg), despite an open angle. Therapy is aimed at controlling the increased intraocular pressure with the use of topical imidazolines, beta-blockers, and carbonic anhydrase inhibitors. Complications related to prolonged and recurrent attacks of increased intraocular pressure may result in damage to the optic nerve head and visual field compromise.
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PMID:A case of glaucomatocyclitic crisis in the emergency department. 1643 Dec 28

We report a case of endophthalmitis caused by the fungus Lasiodiplodia theobromae. A 68-year-old man was referred to the hospital for right ocular pain since experiencing right ocular branch trauma 2 weeks before. The best-corrected acuity was limited to hand motion. Slit-lamp examination showed a large corneal abscess and an anterior chamber reaction. The patient underwent systemic and local antibiotic therapy, and corneal scraping for microbiological diagnosis. Sabouraud-chloramphenicol-gentamicin agar disclosed filamentous fungus, which was treated with oral itraconazole and topic amphotericin B. Molecular biology revealed Lasiodiplodia theobromae. Despite antimycotic drugs, severe panophthalmia occurred very quickly and led to evisceration. This case report describes Lasiodiplodia theobromae as the cause of keratomycosis and discusses risk factors and clinical features of fungal keratitis in order to improve prognosis by earlier treatment.
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PMID:[Mycotic keratitis and endophthalmitis caused by unusual fungi: Lasiodiplodia theobromae]. 1652 50

Two individuals presented to the Aga Khan University Opthalmology service with foreign-body sensation, pain and redness in one of their eyes. Slit-lamp biomicroscopy revealed tiny larvae crawling around the conjunctival sac. They were mechanically removed under topical anaesthesia and preserved for light microscopy and photography. Comprehensive liaison was established with the Australian Centre for International Agriculture Research for identification of these larvae. Their morphology characterized them as members of fruit-fly, Oestridae family. At least one of them was positively identified as first instar larva of Oestrus ovis. This report describes the first instance of such infections in Southern Pakistan, as concluded after a Medline search.
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PMID:First report of ophthalmomyaisis externa in Pakistan. 1655 44

Only two cases of bacterial endophthalmitis after triamcinolone acetonide (TA)-assisted pars plana vitrectomy (PPV) have been reported. As far as we are aware there has been no report of fungal endophthalmitis occurring after TA-assisted PPV. We report a case of endophthalmitis due to Fusarium after TA-assisted PPV. An otherwise healthy 61-year-old woman suffered from branch retinal vein occlusion with macular edema, which led to reduced visual acuity and metamorphopsia. Because she complained of severe discomfort, TA-assisted PPV was performed to reduce the macular edema. At the end of the surgery 4 mg TA was injected into the vitreous cavity. Two weeks after the surgery her visual acuity had improved to 20/20. Six weeks after the surgery her visual acuity decreased to 20/200 but without pain. Slit lamp examination showed no conjunctival hyperemia and no inflammatory cell infiltration in the anterior chamber. Fundus examination showed several small, creamy-white, circumscribed retinal lesions, epiretinal membranes, vitreoretinal traction, and rhegmatogenous retinal detachment. PPV was performed again. Intra-operative light microscopy revealed filamentous fungi in the epiretinal membrane, which was removed during the second PPV. Five days after the second surgery, retinal detachment recurred. A third PPV with encircling procedures and silicone oil tamponade was performed. Fungal cultures from the epiretinal membrane were identified as Fusarium sp. Seven months after the third surgery the silicone oil was removed. The retina remained attached and visual acuity was 20/200. Any patient who has undergone TA-assisted PPV should be carefully followed up for possible post-operative endophthalmitis, even if the anterior segment abnormality is minor.
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PMID:A case of mycotic endophthalmitis after triamcinolone acetonide-assisted pars plana vitrectomy. 1739 75

Diagnosis of heterozygous Fabry patients is difficult because of its variable clinical manifestations and overlapping serum alpha-galactosidase A (AGA) activity between carriers and non-carriers. We tried to facilitate diagnosis of heterozygous Fabry patients by detailed clinical examination. We analyzed clinical presentations, biochemical, electrophysiological and genetic characteristics of 16 patients with Fabry disease in a large Chinese family. Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients. Interestingly, all the males and females had corneal verticilata by slit lamp examination. However, there was no association of serum AGA activity with renal function or pain symptom scores. The results indicated that detailed ocular and neurological examination might provide an alternative way of detecting heterozygous patients. We also report a novel large deletion spanning across the joint of Alu repetitive elements in introns 1 and 2 with resultant exon 2 deletion in a Chinese family with Fabry disease.
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PMID:Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion. 1743 6

Fabry's disease is a rare X-linked inborn error of glycosphingolipid metabolism characterised by an abnormal lipid storage due to a defect of lysozomal alphagalactosidase. The consequence is a storage of glycosphingolipides in all tissues. This storage in vessels's endothelial cells is responsible, in males, for severe ischemic lesions leading to progressive kidney failure, cardiac and cerebral dysfunctions. Similarly, it involves ocular tissues, mainly the cornea, the conjunctiva and the lens. The corneal storage, known as cornea verticillata, is a clinical marker easy to recognize by slit lamp examination of the affected males and carrier females. The enzymatic activity of alphagalactosidase is reduced in tears. Characteristic lamellar bodies can be observed by electron microscopy study of a conjunctival biopsy. Until recently, treatment was limited to symptomatic management of pain, and end-stage complications of renal failure, cardiac or brain disease. Recent studies have demonstrated that enzyme replacement therapy by genetic engineering is now shown to be promising for affected patients.
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PMID:[Pediatric aspects of Fabry's disease]. 1745 72

The revised NHG-guideline 'The red eye' provides recommendations for the diagnosis and therapy in patients with a red eye. In the presence of pain, decreased visual acuity and photophobia (alarm symptoms) should be considered as sight threatening conditions. In most instances a red eye results from conjunctivitis. The complaint of (an) early morning glued eye(s) makes a bacterial origin of acute infectious conjunctivitis more likely. Itching and a history of infectious conjunctivitis make the probability of bacterial involvement less likely. The type of discharge does not help to adequately distinguish bacterial from viral conjunctivitis. Since an infectious conjunctivitis is a self-limiting condition, no treatment is necessary as a rule. Antibiotic treatment is only rational if conjunctivitis is (most probably) caused by bacteria. It has to be considered only if a patient suffers from much discomfort, if complaints do not begin to decline after 3 days and in patients with preexisting corneal defects. Because of widespread resistance to fusidic acid this should in principle not be prescribed for treatment of conjunctivitis; chloramphenicol is still the drug of choice. During revision of the guideline discussions concentrated on 2 aspects: the position of slit lamp biomicroscopy in general practice and giving a patient with keratoconjunctivitis photoelectrica the remainder of a 'minim' with anaesthetic eye drops. Regarding both topics it was decided not to change the recommendations of the former version of the guideline: the use of slit lamp biomicroscopy remains optional for general practitioners and it remains permitted to give the remainder of a 'minim' with anaesthetic eye drops to a patient with keratoconjunctivitis photoelectrica.
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PMID:[Summary of the practice guideline 'The red eye' (first revision) of the Dutch College of General Practitioners (NHG)]. 1758 87

Acne vulgaris does not always respond to conventional therapy. Photodynamic therapy (PDT) has been proposed as a treatment option. The aim of this study was to determine the optimal light dose for effective PDT treatment of acne and to investigate whether PDT reduces sebum excretion and the amount of Propionibacterium acnes. Fifteen patients (9 men, 6 women, age range 16-44 years, mean age 25 years) with mild to severe acne were enrolled in an open, unblinded study. Aminolaevulinic acid cream (20% in Unguentum Merck) was applied on two circular areas 3 h before PDT. The areas of investigation were irradiated with red light (635 nm) from a Waldman PDT 1200 lamp. Ten patients with facial acne were treated with a light dose of 50 J/cm(2) on the right cheek and 30 J/cm(2) on the left cheek. Five patients with acne on their back were treated either with 50 J/cm(2) or with 70 J/cm(2). Clinical follow-up was performed for at least 10 weeks. In the patients with facial acne, sebum excretion was determined before PDT and at every follow-up visit. The amount of P. acnes was measured in a skin surface biopsy using a cyano-acrylate polymer to extract the content of the sebaceous follicles. In 9 patients with facial acne the improvement of lesions was the same for the two light doses. According to the patients' own assessment, 8 improved after PDT (p=0.02). No difference was found between the two doses in patients with acne on the back. Hyperpigmentation was more common at higher doses of light, and pain was experienced more often by the patients when higher doses were used. No significant reduction in P. acnes or sebum excretion was found at any time after PDT. It is concluded that PDT could be an alternative treatment of acne lesions. The lowest possible light dose should be used for minimal side-effects. Other mechanisms of action for PDT than eradication of P. acnes and sebosuppression should be considered.
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PMID:Photodynamic therapy for acne vulgaris: a pilot study of the dose-response and mechanism of action. 1759 35

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene. The clinical diagnosis was established using ocular, cardiac, neurological and electrophysiological tests and the molecular diagnosis was done by PCR, SSCP and sequencing of the CLCN1 gene. The proband and the other affected individuals exhibited proximal and distal muscle weakness but no hypertrophy or muscular pain was found. The myotatic reflexes were lessened and sensibility was normal. Electrical and clinical myotonia was found only in the sufferers. Slit lamp and electrocardiogram tests were normal. Two affected probands presented diminution of the sensitive conduction velocities and prolonged sensory distal latencies. The clinical spectrum for this family is in agreement with a clinical diagnosis of Becker myotonia. This was confirmed by molecular diagnosis where a new disease-causing mutation (Q412P) was found in the family and absent in 200 unaffected chromosomes. No latent myotonia was found in this family; therefore the ability to cause this subclinical sign might be intrinsic to each mutation. Implications of the structure-function-genotype relationship for this and other mutations are discussed. Adequate clinical diagnosis of a neuromuscular disorder would allow focusing the molecular studies toward the confirmation of the initial diagnosis, leading to a proper clinical management, genetic counseling and improving in the quality of life of the patients and relatives.
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PMID:Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. 1862 24

We report the case of a female patient, 56-year-old housewife, for the first time user of last generation contact lenses: Lotrafilcon B, which presented a severe corneal ulcer by Pseudomonas aeruginosa in hev left eye and subsequently required keratoplasty. Initially she reported pain and arrived at the emergency department with red eye, corneal central ulcer of three days of evolution and hypopion. Initially she received topic mydriatic drugs and prednisolone at 1%. At the next day the ophthalmologycal exam showed hypopion at 5% and a central severe ulcer greater than 3 mm in diameter with sharp edges and mucopurulent secretion. The treatment was changed to moxifloxacin and natamycin. The microbiological analysis performed in two laboratories yielded Aspergillus sp. and Pseudomonas aeruginosa sensitive to ciprofloxacin, tobramycin, gentamicin and moxifloxacin. The presence of Aspergillus was interpreted as a pollution lens case and likely colonization of the cornea because of the patient good performance. After four months although improving she required corneal transplantation. Photographic documentation of the case under illumination with slit lamp is presented.
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PMID:[Pseudomonas aeruginosa keratitis associated with the use of last generation contact lens made of silicone hydrogel: case report]. 1876 80


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