Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

As an exploratory study six colour vision tests were given to nine male and two female achromats from the Shankhabanik community in Bishnupur, and to two additional similar males. All thirteen subjects had severe photophobia, fixation nystagmus, extreme weakness of vision (4/24 to 3/60) and the red end of the spectrum was much shortened. This research indicates that they had a form of incomplete achromatopsia, varying from an almost complete to a very severe partial loss of colour vision. The condition is inherited as an autosomal recessive. The most likely interpretation of these cases is that they are incomplete rod achromats. Their performance on the colour vision tests is tabulated, and shows complete inability to do the Ishihara test; nearly complete inability on the HRR test, with a possible slight tendency to do better in the yellow-blue than the red-green sub-tests; on Sloan's test they show approximate accordance with her results for achromats; they have severe difficulty with the dichotomous and 100-hue tests, with a possible slight tendency to make fewer errors on the G/B sections. The anomaloscope shows little abnormality of mid-matching points, but great increases in average matching ranges above the normal, although not absolute loss of colour sense, but with extreme darkening or shortening of the red end of the spectrum. Their colour naming was carefully recorded, and was fairly good occasionally, sometimes erroneous without being wildly at fault, and most often completely wrong. The records of colour naming were made, not, of course, as a form of colour vision test, but simply to illustrate the ways in which such defectives make an effort to use colour names in general use among their friends and relatives.
 ...
PMID:Colour vision tests and colour naming by thirteen incomplete achromats in Bishnupur. 31 98

We report the case of a patient who presented with symptoms of dysphagia, muscle weakness, and photophobia. The diagnosis of sarcoidosis was made by the histologic evidence of widespread noncaseating epithelioid cell granulomas in more than one organ (anterior mediastinal node and right quadriceps muscle). The disease was proven to be active by elevated angiotensin-converting enzyme (ACE) level and gallium-67 imaging. Esophageal dysfunction was demonstrated by barium swallow and manometric study. A review of the literature on sarcoidosis involving the esophagus and the muscular system is presented. Dysphagia and acute symptomatic myopathy are rare presentations of sarcoidosis. The combination of symptoms is unique, and clearly demonstrates the protean multisystemic nature of sarcoidosis. Patients presenting with dysphagia and myopathy should be investigated for sarcoid granulomas in these organs for appropriate treatment.
 ...
PMID:Sarcoidosis: a unique presentation of dysphagia, myopathy, and photophobia. 195 Dec 51

Saddle blockade with pethidine hydrochloride was performed in 111 patients undergoing short surgical operations on the perineum. A dose of 5% pethidine 0.5 mg kg-1 was injected to the subarachnoid space at L4-5 or L5-S1 with the patient in the sitting position. Sensory blockade was achieved in 5.28 +/- 1.43 min. This extended to the sacrococcygeal area, perineum, buttocks and posterior surface of thighs, and was followed 1-2 min later by motor blockade. During the operation the patients were stable haemodynamically and no respiratory depression was recorded. Sensory blockade lasted for 141 +/- 26.06 min and was followed by postoperative analgesia, the mean duration of which was 301 +/- 98.38 min. Postoperative neurological complications were recorded in three patients (2.7%): headache alone in one, headache associated with backache in one, and leg weakness, backache, nuchal rigidity and photophobia in another. Seven patients (6.3%) complained of itching, five patients (4.5%) of nausea and vomiting and two (1.8%) developed urinary retention.
 ...
PMID:Saddle block with pethidine for perineal operations. 375 47

Migraine is caused by intermittent brain dysfunction. Attacks result in severe unilateral headache with nausea, vomiting, photophobia, phonophobia and general weakness. The prevalence of migraine is 12 to 20% in women and 8 to 12% in man. Treatment of an acute attack is done by antiemetics in combination with analgesics. Severe migraine attacks are treated with ergotamine or sumatriptan. Parenteral treatment is performed most efficiently and safely with i.v. ASA. Frequent and severe attacks require prophylaxis. Drugs of first choice are metoprolol, propranolol, flunarizine and cyclandelate. Substances of second choice are valproic acid, DHE, pizotifen, methysergide and magnesium. Homeopathic remedies are not superior to placebo. Nonpharmacological treatment consists of sport therapy and muscle relaxation techniques.
 ...
PMID:[Migraine--diagnosis, differential diagnosis and therapy]. 913 7

Ocular defects associated with Alport syndrome (AS) include anterior lenticonus and retinal flecks. We report on recurrent corneal erosion (RCE) as another ocular manifestation of the disease. Three brothers with AS reported a history of spontaneous attacks of RCE (2 episodes over 1 to 3 years in 2 of them and about 60 episodes in one brother over the last 10 years) characterized by acute ocular pain, lacrimation and photophobia lasting two to five days. The absence of RCE in the two other non-affected brothers from the same kindred suggested an association between AS and RCE, and prompted us to assess its prevalence. Forty-one patients with AS and renal failure and 67 control transplanted patients (with another original nephropathy) were evaluated. Seven AS patients had a history of RCE (first manifested between the ages of 12 and 21) versus only one control patient (P = 0.003). In conclusion, a history of RCE is found in about 20% of patients with AS and renal failure. RCE is likely to result from an inherent structural weakness of the corneal epithelial basement membrane (containing type IV collagen). A history of RCE should be sought when evaluating a patient for AS. Ophthalmologists should also be aware of this association, when confronted with a patient suffering from non-traumatic RCE.
 ...
PMID:Recurrent corneal erosion associated with Alport's syndrome. Rapid communication. 921 64

C57BL/6 mice develop T-cell-mediated experimental autoimmune encephalomyelitis (EAE) after immunization with the neuroantigen myelin oligodendrocyte glycoprotein. (MOG). We immunized CD28-deficient C57BL/6 mice to determine the role of T cell costimulation in the immune response to MOG. CD28-/- mice developed experimental autoimmune meningitis (EAM). EAM is a fatal, acute disease characterized by simultaneous weakness in all limbs, photophobia, irritability, and spatial disorientation. Histologically, EAM consisted of an infiltrate of myeloid, monocytic, and lymphocytic leukocytes within the leptomeninges. In contrast, the brain parenchyma was unaffected. EAM was mediated by CD4+ T cells since CD4 depletion prevented the disease. Upon rechallenge, mice in which EAM was prevented by CD4+ cell depletion developed EAE not EAM. Therefore, the presence or absence of CD28 determines the initial phenotype of the immune response to MOG. EAM, which develops in the absence of CD28, is a unique experimental model for immune-mediated aseptic meningitis.
 ...
PMID:Experimental autoimmune meningitis: a novel neurological disease in CD28-deficient mice. 1021 53

On September 28, 1999, a previously healthy 48-year-old man from California sought care at a local emergency department (ED) and was hospitalized with a 2-day history of fever (102 F [38.9 C]), chills, headache, photophobia, diffuse myalgias, joint pains, nausea, vomiting, constipation, upper abdominal discomfort, and general weakness. On September 26, he had returned from a 10-day trip to Venezuela. On September 29, an infectious disease physician from the ED contacted the Marin County Health Department (MCHD) about the patient's symptoms; MCHD reported his illness to the California Department of Health Services (CDHS) as a suspected case of viral hemorrhagic fever. This report describes the investigation of the case.
 ...
PMID:Fatal yellow fever in a traveler returning from Venezuela, 1999. 1082 87

We reported two families of Charcot-Marie-Tooth disease (CMT) with Thr124Met mutation in the peripheral myelin protein zero (MPZ). The clinical features of the proband patients of both families showed Adie's pupil, severe sensory dominant neuropathy in lower extremities, and axonal changes in sural nerve biopsies and nerve conduction studies. Muscle atrophy and weakness was mild in the lower legs, while sensory impairment was marked. The proband patient of family 1 had four symptomatic siblings and one of them showed Adie's pupil. The elderly daughter of the proband of family 2 showed Adie's pupil and younger daughter showed photophobia. The biopsied sural nerves of both proband patients revealed prominent axonal sprouting, and sub-perineurial edema and mild fascicular enlargement. Segmental demyelination was not frequent in teased fiber assessment. The present two family cases strongly suggest that this MPZ gene mutation (Thr124Met) could be present among the patients with CMT type 2, axonal form. Furthermore, the patients showing sensory neuropathy and Adie's pupil may need to be reexamined with this mutation. It is also necessary to reassess genotype-phenotype correlation in CMT patients particularly in reference to type 1 and type 2.
 ...
PMID:[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene]. 1083 36

Spontaneous intracranial hypotension (SIH) is typically manifested by orthostatic headaches that may be associated with one or more of several other symptoms, including pain or stiffness of the neck, nausea, emesis, horizontal diplopia, dizziness, change in hearing, visual blurring or visual field cuts, photophobia, interscapular pain, and occasionally face numbness or weakness or radicular upper-limb symptoms. Cerebrospinal fluid (CSF) pressures, by definition, are quite low. SIH almost invariably results from a spontaneous CSF leak. Only very infrequently is this leak at the skull base (cribriform plate). In the overwhelming majority of patients, the leak is at the level of the spine, particularly the thoracic spine and cervicothoracic junction. Sometimes, documented leaks and typical clinical and imaging findings of SIH are associated with CSF pressures that are consistently within limits of normal. Magnetic resonance imaging of the head typically shows diffuse pachymeningeal gadolinium enhancement, often with imaging evidence of sinking of the brain, and less frequently with subdural fluid collections, engorged cerebral venous sinuses, enlarged pituitary gland, or decreased size of the ventricles. Radioisotope cisternography typically shows absence of activity over the cerebral convexities, even at 24 or 48 hours, and early appearance of activity in the kidneys and urinary bladder, and may sometimes reveal the level of the leak. Although various treatment modalities have been implemented, epidural blood patch is probably the treatment of choice in patients who have failed an initial trial of conservative management. When adequate trials of epidural blood patches fail, surgery can offer encouraging results in selected cases in which the site of the leak has been identified. Some of the spontaneous CSF leaks are related to weakness of the meningeal sac, likely in connection with a connective tissue abnormality.
 ...
PMID:Spontaneous intracranial hypotension. 1130 18

Spontaneous intracranial hypotension (SIH) is typically manifested by orthostatic headaches that may be associated with one or more of several other symptoms, including pain or stiffness of the neck, nausea, emesis, horizontal diplopia, dizziness, change in hearing, visual blurring or visual field cuts, photophobia, interscapular pain, and occasionally face numbness or weakness or radicular upper-limb symptoms. Cerebrospinal fluid (CSF) pressures, by definition, are quite low. SIH almost invariably results from a spontaneous CSF leak. Only very infrequently is this leak at the skull base (cribriform plate). In the overwhelming majority of patients, the leak is at the level of the spine, particularly the thoracic spine and cervicothoracic junction. Sometimes, documented leaks and typical clinical and imaging findings of SIH are associated with CSF pressures that are consistently within limits of normal. Magnetic resonance imaging of the head typically shows diffuse pachymeningeal gadolinium enhancement, often with imaging evidence of sinking of the brain, and less frequently with subdural fluid collections, engorged cerebral venous sinuses, enlarged pituitary gland, or decreased size of the ventricles. Radioisotope cisternography typically shows absence of activity over the cerebral convexities, even at 24 or 48 hours, and early appearance of activity in the kidneys and urinary bladder, and may sometimes reveal the level of the leak. Although various treatment modalities have been implemented, epidural blood patch is probably the treatment of choice in patients who have failed an initial trial of conservative management. When adequate trials of epidural blood patches fail, surgery can offer encouraging results in selected cases in which the site of the leak has been identified. Some of the spontaneous CSF leaks are related to weakness of the meningeal sac, likely in connection with a connective tissue abnormality.
 ...
PMID:Spontaneous intracranial hypotension. 1189 6


1 2 3 4 Next >>