Cases reported "Fatigue"

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1/9. Exercise in 94 degrees F water for a patient with multiple sclerosis.

    BACKGROUND AND PURPOSE: The purpose of this case report is to describe the examination, intervention, and outcome of a patient with multiple sclerosis (MS) who participated in a comprehensive rehabilitation program that included aquatic therapy with a pool temperature of 94 degrees F. There are few descriptions of aquatic exercise programs on muscle force, exercise tolerance, and functional outcomes in individuals with MS, and most authors recommend a water temperature of less than 85 degrees F to prevent an exacerbation of symptoms. DESCRIPTION: The patient was a 33-year-old woman. Before, during, and after the aquatic program, she was monitored for body temperature, heart rate, blood pressure, and perceived exertion. She was also assessed for muscle force and functional abilities. OUTCOMES: The patient did not experience heat sensitivity or fatigue throughout the program, and her manual muscle test grades and mobility improved. DISCUSSION: This patient's participation in aquatic therapy, in conjunction with land-based interventions, may have been associated with the improvement in functional abilities.
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2/9. Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension.

    Corticosteroid-binding globulin is a 383-amino acid glycoprotein that serves a hormone transport role and may have functions related to the stress response and inflammation. We describe a 39-member Italian-Australian family with a novel complete loss of function (null) mutation of the corticosteroid-binding globulin gene. A second, previously described, mutation (Lyon) segregated independently in the same kindred. The novel exon 2 mutation led to a premature termination codon corresponding to residue -12 of the procorticosteroid-binding globulin molecule (c.121G-->A). Among 32 family members there were 3 null homozygotes, 19 null heterozygotes, 2 compound heterozygotes, 3 Lyon heterozygotes, and 5 individuals without corticosteroid-binding globulin mutations. plasma immunoreactive corticosteroid-binding globulin was undetectable in null homozygotes, and mean corticosteroid-binding globulin levels were reduced by approximately 50% at 18.7 /- 1.3 microg/ml (reference range, 30-52 microg/ml) in null heterozygotes. Morning total plasma cortisol levels were less than 1.8 microg/dl in homozygotes and were positively correlated to the plasma corticosteroid-binding globulin level in heterozygotes. Homozygotes and heterozygote null mutation subjects had a high prevalence of hypotension and fatigue. Among 19 adults with the null mutation, the systolic blood pressure z-score was 12.1 /- 3.5; 11 of 19 subjects (54%) had a systolic blood pressure below the third percentile. The mean diastolic blood pressure z-score was 18.1 /- 3.4; 8 of 19 subjects (42%) had a diastolic blood pressure z-score below 10. Idiopathic chronic fatigue was present in 12 of 14 adult null heterozygote subjects (86%) and in 2 of 3 null homozygotes. Five cases met the Centers for disease Control criteria for chronic fatigue syndrome. fatigue questionnaires revealed scores of 25.1 /- 2.5 in 18 adults with the mutation vs. 4.2 /- 1.5 in 23 healthy controls (P < 0.0001). Compound heterozygosity for both mutations resulted in plasma cortisol levels comparable to those in null homozygotes. Abnormal corticosteroid-binding globulin concentrations or binding affinity may lead to the misdiagnosis of isolated ACTH deficiency. The mechanism of the association between fatigue and relative hypotension is not established by these studies. As idiopathic fatigue disorders are associated with relatively low plasma cortisol, abnormalities of corticosteroid-binding globulin may be pathogenic.
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3/9. Severe obstructive sleep apnoea syndrome in an adult patient with laron syndrome.

    A 68 year old patient with laron syndrome (primary growth hormone (GH) resistance-insensitivity due to a molecular defect of the GH receptor) and severe obstructive sleep apnoea syndrome is described. Treatment with continuous positive air pressure therapy resulted in improved nocturnal sleep, daytime alertness and cognitive functions.
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4/9. A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes.

    The coinheritance of beta-thalassemia major with the genotype of Hb H disease is extremely rare, with few reported cases. We investigated the hematological, biochemical, biosynthetic, molecular and pathophysiological parameters to evaluate a rare male patient with this compound syndrome. The patient was studied at first diagnosis during hospitalization at 50 years of age and subsequently followed up for more than a year. Examinations included full hematological, biochemical, biosynthetic, molecular, pathophysiological and clinical parameters. Besides standard parameters, we additionally measured reticulocyte hemoglobin content (CHr), erythropoietin (Epo), soluble transferrin receptors (sTfR), oxygen pressure at 50% hemoglobin saturation (P50), 2,3-bisphosphoglycerate (2,3-BPG), total glutathione (GSHt), oxidized glutathione (GSSG), malonyldialdehyde (MDA), nontransferrin-bound iron (NTBI), vitamins A and E. The male patient was first hospitalized for a 2-day period at 50 years of age, following the finding of marked anemia (hematocrit 20%) during a blood test to investigate the cause of fatigue in the absence of weight-loss or other notable symptomatology. He had never been transfused, maintaining Hb 85-95 g/l. Definitive diagnosis was achieved through dna studies, which showed coexistence of beta-thalassemia major (IVSI-6 T > C/IVSI-I G > A) with Hb H disease (-alpha(3.7)/-(Med)). Alpha/non-alpha globin chain biosynthesis was completely balanced. Parameters demonstrated a well-compensated anemia with ineffective erythropoiesis and oxidative stress, which was ameliorated following splenectomy. In conclusion, this case is a remarkable example that the coinheritance of severe forms of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to almost complete balance the symptoms of classic thalassemia syndromes.
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5/9. Chronic hypokalaemia--how to establish a diagnosis?

    We present three cases of patients with symptomatic, chronic, diagnosis-resistant hypokalaemia. Differential diagnosis of renal potassium loss between Gitelman's syndrome, Bartter's syndrome and loop diuretic abuse was made. Key elements in differential diagnosis of chronic hypokalaemia are blood pressure assessment, acid base equilibrium, serum calcium concentration, 24-hour urine potassium and calcium excretion.
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6/9. "fatigue on rest" and associated symptoms (headache, vertigo, blurred vision, nausea, tension and irritability) due to locally asymptomatic, unerupted, impacted teeth.

    "fatigue on rest", headache, vertigo and the feeling of loss of balance, blurred vision, nausea, tension and irritability, were found to be prevalent amongst patients who had locally asymptomatic, unerupted impacted teeth. A comparative pressure sign was developed, which, when positive, confirmed the relationship between the impacted teeth and the medical symptoms. Removal of the impactions resulted in the alleviation of the symptoms. Stress and psychogenic factors are considered as trigger mechanisms, rather than as basic causes of the symptoms.
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7/9. Freiberg's infraction: a subchondral bone fatigue fracture. A new surgical treatment.

    Observations on plantar pressure points suggest that Freiberg's infraction is osteonecrosis of the second or third metatarsal head resulting from a subchrondral bone fatique fracture. A series of 53 cases were successfully treated by deflexion osteotomy of the involved metatarsal head.
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8/9. Successful correction of velopharyngeal stress incompetence in musicians playing wind instruments.

    Two professional musicians who played wind instruments developed velopharyngeal stress incompetence which prevented them from generating the high intraoral pressures required to play their instruments. In both cases, we did a V-Y pushback with a superiorly-based pharyngeal flap. At 1 1/2 and two years postoperatively, both patients remain free of velopharyngeal incompetence and are actively engaged in their musical careers.
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9/9. Case report: neurochemical, physiological, and behavioral effects of bright light therapy on a cortically blind patient.

    The present study evaluated the effects of bright light therapy on a patient with cortical blindness. Behavioral indices of functioning included the appraisal of mood, fatigue, appetite and orientation. Physiological measures assessed were blood pressure and temperature. Blood serum samples were analyzed for 5-HIAA and norepinephrine (NE). For the control and follow-up, the patient was exposed to 30 minutes of red light (300-lux), and thirty minutes of white light (10,000-lux) was used for treatment. High-pressure liquid chromatography analyses of blood serum samples revealed no change in serotonin (5-HT). However, an increase in blood NE was indicated following light treatment (red light: 12.7 ng/ml, white light: 43.5 ng/ml and, red light: 27.5 ng/ml). Analysis of data revealed significant differences in baseline and treatment scores for 4 of the outcome measures.
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