Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a report on the clinical history and pathological lesions of a dog suffering from disseminated protothecosis due to Prototheca zopfi. Clinically, the dog was presented with bilateral conjunctivitis followed by blindness, deafness and posterior paresis. Pathological lesions were most severe in the eyes and consisted of subacute panophthalmitis with secondary posterior subcapsular cataract, posterior synechia, retinal detachment and microscopic evidence of glaucoma. The kidney, liver, brain, spleen and lungs were also affected. This is believed to be the first published account of protothecosis in mammals other than man in Africa. A review of the literature is included.
 ...
PMID:Disseminated prothothecosis in a dog. 61 16

112 patients with intracranial tumors treated with intracarotid BCNU to a cumulative dose of 370 mg/m2 body surface have been examined retrospectively for ocular complications. Average follow-up was 494 days (range 5 months-5 years). The rate of ocular complications was 2.7%. There was 1 case of hemorrhagic glaucoma with amaurosis and an accompanying oculomotor palsy, 1 case of retinal branch artery occlusion combined with third nerve paresis and 1 case of oculomotor palsy.
 ...
PMID:Ocular complications after intracarotid BCNU for intracranial tumors. 254 60

The authors managed 38 consecutive cases of nontraumatic vascular shunts involving the cavernous sinus. Selective angiography demonstrated 12 carotid cavernous fistulas (CCFs) and 26 dural arteriovenous shunts (DAVSs). Visual disability occurred from glaucoma, venous retinopathy, optic neuropathy, or diplopia. Ten patients with slow-flow shunts and minimal dysfunction were treated medically to lower intraocular pressure (IOP) and/or instructed in manual compression of the internal carotid artery, ipsilateral to the lesion, using the contralateral hand. Percutaneous intraarterial embolization using detachable balloons, isobutylcyanoacrylate, or polyvinyl alcohol particles was successful in 16/18 DAVSs and 9/10 CCFs. The neuro-ophthalmic signs resolved in these 25 cases. Complications occurred in five patients. These included a transient hemiparesis, twelfth nerve palsy, unilateral nasal field loss, a pseudoaneurysm causing a third-nerve paresis, and temporary cavernous sinus thrombosis. Conservative therapy in mild cases and embolization in cases with visual disability or progressive signs are warranted.
 ...
PMID:Management of nontraumatic vascular shunts involving the cavernous sinus. 334 19

A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel & Jagell 1981). We describe three brothers, products of a marriage between first cousins once-removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive spastic paresis, moderate mental retardation and glaucoma with secondary cataracts. Documentation of a second consanguineous kindred with this triad of features supports the view that this is a distinct entity with an autosomal recessive mode of inheritance.
 ...
PMID:Spastic paresis, glaucoma and mental retardation--a probable autosomal recessive syndrome? 380 60

The eye manifestations of congenital toxoplasmosis were investigated in 38 infants and children. Diagnosis of the congenital ocular lesions was established clinically, using also X-ray, computed tomography and ultrasonography, and confirmed by two immunodiagnostic techniques. Infants and children were examined when one or more characteristic manifestations of ophthalmic disorders were present. Typical symptoms and signs can present at birth or appear later in life. The multiplicity of clinical manifestations is characteristic of the disease. The most common symptom was chorioretinitis (92%), associated in 71% of the cases with other ocular lesions, and the second most common symptom was microphthalmia and strabismus. The inflammatory process also involved the anterior segment of the eye: iridocyclitis, cataract, glaucoma. Other rare findings were hydrocephalus, calcification in the brain, paresis, epilepsy and diminished visual acuity. The study showed that transplacental transmission of Toxoplasma to the fetus can have severe clinical consequences and terminate in fatal ocular impairment.
 ...
PMID:Congenital toxoplasmosis: eye manifestations in infants and children. 1236 84

Inherited neuropathies are clinically and genetically heterogeneous. At least 28 genes and 12 loci have been associated with Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. Most causes of inherited neuropathy have been discovered by positional cloning technique and in the past two years, the pace of CMT gene discovery has accelerated. Genetic studies have revealed the following gene mutations as the causes of inherited neuropathies; PMP22, MPZ, EGR2, SOX10, SIMPLE/LITAF, ARHGEF10 for CMT1 (autosomal dominant demyelinating form); GDAP1, MTMR2, SBF2/MTMR13, KIAA1985, NDRG1 PRX for CMT4 (autosomal recessive demyelinating form), MFN2, KIF1B, RAB7, GARS, NEFL, HSPB1, HSPB8 for CMT2 (autosomal dominant axonal form); LMNA, GAN1, KCC3, TDP1, APTX, SETX for AR-CMT2 (autosomal recessive axonal form); GIB1 for CMTX (X-linked CMT); DNM2 for CMT-DI (autosomal dominant CMT with intermediate nerve conduction velocities); and DHH for minifascicular neuropathy. These discovered CMT causing genes/proteins include those which show unpredictable correlations with the peripheral nervous system. However, these genes/proteins are definitely important for the peripheral nerve, and their discovery should pave the way for dramatic progress in the understanding of peripheral nerve biology. On the other hand, genotype-phenotype correlations of these genes are also important in order to understand the pathomechanisms of inherited neuropathy. Because, based on mutation studies, a large number of genes associated with both the CMT1/4 and CMT2 forms have been identified, it is usually difficult to predict the causative gene based on clinical information from patients without specific complications. To clarify the specific features and molecular mechanisms of five diseases that we previously reported, we reviewed recent progress in HMSN-P linked to chromosome 3, CMT4F caused by PRX, CMT4A caused by GDAP1, CMT4B2 caused by SBF2/MTMR13, and SCAN1 caused by TDP1. HMSN-P is characterized by late onset, proximal dominant severe muscle weakness, fasciculations, muscle cramp and sensory involvement. HMSN-P is a primary neuronopathy. Mutations in periaxin are associated with a broad spectrum of demyelinating neuropathies including DSS, a sensory dominant form and early onset slowly progressive CMT. Pathologically, loss of myelinated fibers, demyelination, small onion bulb formations, tomacula formation and myelin foldings were seen in sural nerves. Absence of septate like junction in the paranodal loop suggests that periaxin could be required for the adhesion complex. GDAP1 is a relatively common cause of CMT4. Half of reported patients showed the demyelinating form, while the rest showed the axonal form. The typical feature of CMT4A is paresis of the vocal cords and diaphragm. CMT4B2 is characterized by autosomal recessive, juvenile onset glaucoma and focally folded myelin in sural nerves. SBF2/MTMR13 mutations cause CMT4B2. Early onset glaucoma was seen in patients with nonsense mutations. SBF2/MTMR13 and MTMR2, which is the cause of CMT4B1, could be acting on the same 3-phosphoinositide signaling pathway. Clinical phenotypes of patients with TDP1, APTX, or SETX mutations share common clinical findings, namely cerebellar ataxia and axonal neuropathy. TDP1 and aprataxin both act on the single strand break repair pathway, with TDP1 working specifically on topoisomerase I related SSBR. Senataxin is a RNA helicase acting on RNA maturation and termination in yeast. Since these three proteins share a common pathway, disruption in any of them could induce a delay in the transcription process. The low rate of protein supply could lead to deaths of large neuronal cells.
 ...
PMID:[Molecular genetics of inherited neuropathies]. 1654 90

To clarify the specific features and molecular mechanisms of five diseases that we previously reported, we reviewed recent progress in HMSN-P linked to chromosome 3, CMT4F caused by PRX, CMT4A caused by GDAP1, CMT4B2 caused by SBF2/MTMR13F, and SCAN1 caused by TDP1. HMSN-P is characterized by late onset, proximal dominant severe muscle weakness, fasciculations, muscle cramp and sensory involvement. HMSN-P is a primary neuronopathy. Mutations in periaxin are associated with a broad spectrum of demyelinating neuropathies including DSS, a sensory dominant form and early onset slowly progressive CMT. Pathologically, loss of myelinated fibers, demyelination, small onion bulb formations, tomacula formation and myelin foldings were seen in sural nerves. Absence of septate like junction in the paranodal loop suggests that periaxin could be required for the adhesion complex. GDAP1 is a relatively common cause of CMT4. Half of reported patients showed the demyelinating form, while the rest showed the axonal form. The typical feature of CMT4A is paresis of the vocal cords and diaphragm. CMT4B2 is characterized by autosomal recessive, juvenile onset glaucoma and focally folded myelin in sural nerves. SBF2/MTMR13 mutations cause CMT4B2. Early onset glaucoma was seen in patients with nonsense mutations. SBF2/MTMR13 and MTMR2, which is the cause of CMT4B1, could be acting on the same 3-phosphoinositide signaling pathway. Clinical phenotypes of patients with SCAN1 showed cerebellar ataxia and axonal neuropathy. TDP1 acts on the single strand break repair pathway, and works specifically on topoisomerase I related SSBR. Disruption of TDP1 could induce a delay in the transcription process. The low rate of protein supply could lead to deaths of large neuronal cell.
 ...
PMID:[Molecular genetics of inherited neuropathies]. 1743 74

The congenital retinocephalic facial vascular malformation syndrome is characterized by unilateral, nonhereditary retinal and cerebral arteriovenous malformations (AVMs) and is occasionally associated with orbital vascular changes. Typical signs are facial and oral mucosal vascular changes, rarely with changes of the maxilla or mandible. An AVM causes high blood flow because of direct connection (shunting) of major vessels without interposition of capillaries. Ocular complications include retinal and vitreous hemorrhages, edema, venous occlusion (risk of rubeosis iridis and secondary glaucoma). Neuroophthalmological changes comprise optic atrophy, papilledema, proptosis, pupillary changes, hemianopia, gaze paresis, nystagmus, cranial nerve palsies, strabismus, and amblyopia. Neurological complications include headache, subarachnoid hemorrhage, convulsions, cerebral hemorrhages, increased intracranial pressure, hydrocephalus, and stroke with hemiparesis. Threatening oral hemorrhages or epistaxis may rarely occur.
 ...
PMID:[Congenital retinocephalic facial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome]. 1915 63

Herpes zoster (HZ) is primarily a disease of nerve tissue but the acute and longer-term manifestations require multidisciplinary knowledge and involvement in their management. Complications may be dermatological (e.g. secondary bacterial infection), neurological (e.g. long-term pain, segmental paresis, stroke), ophthalmological (e.g. keratitis, iridocyclitis, secondary glaucoma) or visceral (e.g. pneumonia, hepatitis). The age-related increased incidence of HZ and its complications is thought to be a result of the decline in cell-mediated immunity (immunosenescence), higher incidence of comorbidities with age and social-environmental changes. Individuals who are immunocompromised as a result of disease or therapy are also at increased risk, independent of age. HZ and its complications (particularly postherpetic neuralgia) create a significant burden for the patient, carers, healthcare systems and employers. Prevention and treatment of HZ complications remain a therapeutic challenge despite recent advances. This is an overview of the multidisciplinary implications and management of HZ in which the potential contribution of vaccination to reducing the incidence HZ and its complications are also discussed.
...
PMID:Herpes zoster epidemiology, management, and disease and economic burden in Europe: a multidisciplinary perspective. 2755 30