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)

Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. The other main tumours are schwannomas of the other cranial, spinal and peripheral nerves; meningiomas both intracranial (including optic nerve meningiomas) and intraspinal, and some low-grade central nervous system malignancies (ependymomas). Ophthalmic features are also prominent and include reduced visual acuity and cataract. About 70% of NF2 patients have skin tumours (intracutaneous plaque-like lesions or more deep-seated subcutaneous nodular tumours). Neurofibromatosis type 2 is a dominantly inherited tumour predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. More than 50% of patients represent new mutations and as many as one-third are mosaic for the underlying disease-causing mutation. Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common. A strategy for detection of the latter is vital for a sensitive analysis. Diagnosis is based on clinical and neuroimaging studies. Presymptomatic genetic testing is an integral part of the management of NF2 families. Prenatal diagnosis and pre-implantation genetic diagnosis is possible. The main differential diagnosis of NF2 is schwannomatosis. NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. Surgery remains the focus of current management although watchful waiting with careful surveillance and occasionally radiation treatment have a role. Prognosis is adversely affected by early age at onset, a higher number of meningiomas and having a truncating mutation. In the future, the development of tailored drug therapies aimed at the genetic level are likely to provide huge improvements for this devastating condition.
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PMID:Neurofibromatosis type 2 (NF2): a clinical and molecular review. 1954 78

We report a case of bilateral intraocular hemorrhage from vascularization of cataract wounds. The patient experienced decreased vision following an episode of vomiting more than 2.5 years after phacoemulsification through a scleral tunnel incision in the right eye and combined trabeculectomy and extracapsular cataract extraction in the left eye. Gonioscopy demonstrated abnormal vessels in the region of the cataract wound superiorly and small hyphemas inferiorly in both eyes. The hemorrhages and elevated intraocular pressure normalized over weeks. The left eye had a recurrent hemorrhage 5 months later, which was successfully treated with argon laser goniophotocoagulation.
J Cataract Refract Surg 2009 Sep
PMID:Bilateral intraocular hemorrhage from vascularization of cataract wounds. 1968 67

Postoperative nausea and vomiting are common complications of anaestnesia. This double-blind clinical trial assessed the incidence of nausea and vomiting after cataract surgery with intravenous anaesthesia in 100 patients randomly assigned to preinduction placebo (saline), metoclopramide (10 mg), dexamethasone (8 mg) or the 2 drugs combined. The incidence of nausea in the recovery room was 44% with placebo, 20% with metoclopramide, 16% with dexamethasone and 8% with the combination. The incidence of vomiting was 20%, 4%, 4% and 0% respectively in the 4 groups. Metoclopramide plus dexamethasone combination significantly decreased nausea and vomiting both in the recovery room and 24 hours afterwards and is recommended for high-risk groups, especially in outpatient surgeries.
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PMID:Efficacy of metoclopramide and dexamethasone for postoperative nausea and vomiting: a double-blind clinical trial. 2079 44

Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features were observed in this infant except cataract on slit lamp examination. To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.
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PMID:Galactosemia presenting as recurrent sepsis. 2132 Oct 7

Ciclosporin is an immunosuppressive drug that has been used to treat allergies and other immune-mediated diseases in cats, dogs and humans. Information about the adverse effects of ciclosporin in cats has been limited to smaller studies and case reports. Adverse effects in dogs are mainly gastrointestinal in nature, but humans can also experience hypertension and altered renal function. The aim of this retrospective case series study was to document the occurrence and clinical appearance of adverse events in cats receiving ciclosporin to treat allergic skin disease. The medical records of 50 cats with allergic dermatitis treated with oral ciclosporin (1.9-7.3 mg/kg/day) were reviewed. Adverse events occurred in 66% (33 cats). Adverse events likely to be associated with ciclosporin included the following: vomiting or diarrhoea within 1-8 weeks of receiving ciclosporin (24%), weight loss (16%), anorexia and subsequent hepatic lipidosis (2%) and gingival hyperplasia (2%). Other adverse events less likely to be associated with ciclosporin therapy included the following: weight gain (14%), dental tartar and gingivitis (10%), otitis (4%), chronic diarrhoea (4%), inflammatory bowel disease with indolent gastrointestinal lymphoma (2%), urinary tract infection (2%), cataract (2%), elevated liver enzymes (2%), hyperthyroidism and renal failure (2%) and transient inappropriate urination (2%). Some cats experienced multiple adverse events. Case-control studies are needed to prove cause and effect of ciclosporin with regard to these adverse events.
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PMID:Adverse events in 50 cats with allergic dermatitis receiving ciclosporin. 2154 60

Cogan's syndrome (CS) is a chronic inflammatory disorder of unknown etiology that most commonly affects young adults. Clinical hallmarks are bilateral interstitial keratitis and vestibuloauditory dysfunction. Association between CS and systemic vasculitis as well as aortitis also exists. The diagnosis of CS is based upon presence of characteristic inflammatory eye disease and vestibuloauditory dysfunction. We describe classic Cogan's syndrome in a 47-year-old female from Ardabil. The patient was admitted with headache, vertigo, nausea, vomiting, right leg claudication, musculoskeletal pains, bilateral hearing loss, and blindness for the past two months. Ophthalmologic examination revealed that visual acuity was 0.1 bilaterally. Conjunctival hyperemia, bilateral cataract, and interstitial keratitis were detected with a slit lamp examination. Pure tone audiogram (PTA) and auditory brain stem response (ABR) showed bilateral sensorineural hearing loss. The other differential diagnosis of CS was studied and ruled out. Pulse i.v. methylprednisolone and cyclophosphamide were given and were followed by oral prednisolone and cyclophosphamide. Clinical follow-up showed partial improvement.
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PMID:Interstitial Keratitis, Vertigo, and Vasculitis: Typical Cogan's Syndrome. 2471 22

Klebsiella is a Gram-negative bacterium that causes different types of health care-associated infections including pneumonia, bloodstream infections, surgical site infections and meningitis. We report here a case of Klebsiella pneumoniae meningitis in a patient with diabetes mellitus and Hansen's disease. A middle-aged man with a known case of diabetes mellitus and Hansen's disease presented with the complaints of blurred vision in the left eye and the patient was found to have cataract. Patient was operated for cataract and Intraocular lens implanted. Patient developed headache and vomiting on the 4th post-operative day. Lumbar puncture was carried out and gram stain of cerebrospinal fluid showed Gram-negative bacilli in the direct smear and culture yielded a heavy growth of K. pneumoniae. The patient was treated with antimicrobials according to the susceptibility pattern. He initially showed improvement but later on developed altered sensorium and hypotension. Patient succumbed to infection in spite of all medical attention.
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PMID:Fatal Klebsiella pneumoniae meningitis in a patient with diabetes mellitus and Hansen's disease. 2473 55

As part of a program to assess the adverse biological effects expected from astronaut exposure to space radiation, numerous different biological effects relating to astronaut health have been evaluated. There has been major focus recently on the assessment of risks related to exposure to solar particle event (SPE) radiation. The effects related to various types of space radiation exposure that have been evaluated are: gene expression changes (primarily associated with programmed cell death and extracellular matrix (ECM) remodeling), oxidative stress, gastrointestinal tract bacterial translocation and immune system activation, peripheral hematopoietic cell counts, emesis, blood coagulation, skin, behavior/fatigue (including social exploration, submaximal exercise treadmill and spontaneous locomotor activity), heart functions, alterations in biological endpoints related to astronaut vision problems (lumbar puncture/intracranial pressure, ocular ultrasound and histopathology studies), and survival, as well as long-term effects such as cancer and cataract development. A number of different countermeasures have been identified that can potentially mitigate or prevent the adverse biological effects resulting from exposure to space radiation.
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PMID:Biological Effects of Space Radiation and Development of Effective Countermeasures. 2525 3

Cataract may cause visual loss especially in the newborn period if early and urgent intervention is not managed. Approximately 1/3 of cases are congenital, 1/3 are related with systemic diseases and the remaining 1/3 are idiopathic or sporadic. The prevalence of congenital cataract in developed countries is estimated as 1 - 3 per 10,000 live births. There are a number of medicines besides systemic and infectious diseases which may cause cataract. Linezolid is a member of the oxazolidinone antibiotic family which can be used in serious infections caused by vancomycin resistant E. faecium (VRE), methicillin resistant S. aureus (MRSA), methicillin resistant coagulase negative staphylococci and penicillin resistant S. pneumonia in infants and children. Side effects are reported as diarrhea, vomiting, headache, transaminase elevation, rashes and optic neuropathy. Herein, we report a preterm newborn who developed thrombocytopenia and bilateral cataracts during linezolid therapy and relieved one week after the discontinuation of the therapy.
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PMID:Cataract in a preterm newborn: a possible side effect of linezolid therapy. 2551 3

A 62-year-old man underwent an uneventful cataract surgery in the left eye following retrobulbar anesthesia. Fifteen minutes after the surgery, the patient had visual loss in his right (unoperated) eye, headache, dizziness, nausea, and vomiting. The bandage on the left (operated) eye was removed and the initial ophthalmic examination revealed bilateral dilated pupils with absence of light perception. His fundus examination and vital signs were unremarkable. Immediately, a computerized tomography (CT) was performed to scan both orbit and brain. The orbit CT revealed air bubbles within the left optic nerve sheath, which confirmed inadvertent injection and administration of anesthetic medications into the optic nerve sheath. Within three hours, meningeal irritation signs recovered spontaneously and visual acuity improved to 20/20 in the right eye and 20/40 in the left eye.
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PMID:Bilateral transient visual loss and meningeal irritation signs following retrobulbar anesthesia. 2869 72


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