Cases reported "Disease Progression"

Filter by keywords:



Filtering documents. Please wait...

11/37. frontal lobe dementia with novel tauopathy: sporadic multiple system tauopathy with dementia.

    We present a novel tauopathy in a patient with a 10-yr history of progressive frontal lobe dementia and a negative family history. autopsy revealed mild atrophy of frontal and parietal lobes and severe atrophy of the temporal lobes. There were occasional filamentous tau-positive inclusions, but more interesting were numerous distinctive globular neuronal and glial tau-positive inclusions in both gray and white matter of the neocortex. Affected subcortical regions included substantia nigra, globus pallidus, subthalamic nucleus, and cerebellar dentate nucleus, in a distribution similar to progressive supranuclear palsy (PSP), but without significant accompanying neuronal loss or gliosis. Predominantly straight filaments were detected by electron microscopy (EM), while other inclusions were similar to fingerprint bodies. No twisted ribbons were detected. Immuno-EM studies revealed that only the filamentous inclusions were composed of tau. immunoblotting of sarkosyl-insoluble tau revealed 2 major bands of 64 and 68 kDa. Blotting analysis after dephosphorylation revealed predominantly 4-repeat tau. sequence analysis of tau revealed that there were no mutations in either exons 9-13 or the adjacent intronic sequences. The unique cortical tau pathology in this case of sporadic multiple system tauopathy with dementia adds a new pathologic profile to the spectrum of tauopathies.
- - - - - - - - - -
ranking = 1
keywords = finger
(Clic here for more details about this article)

12/37. The chorea of McLeod syndrome.

    Among the movement disorders associated with acanthocytosis, McLeod syndrome (McKusick 314850) is the one that is best characterized on the molecular level. Its defining feature is low reactivity of Kell erythrocyte antigens. This is due to absence of membrane protein KX that forms a complex with the Kell protein. KX is coded for by the XK gene on the X-chromosome. We present six males (aged 29 to 60 years), with proven XK mutations, to discuss the chorea associated with McLeod syndrome. The movement disorder commonly develops in the fifth decade and is progressive. It affects the limbs, the trunk and the face. In addition to facial grimacing, involuntary vocalization can be present. In early stages there may only be some restlessness or slight involuntary distal movements of ankles and fingers. lip-biting and facial tics seem more common in autosomal recessive choreoacanthocytosis linked to chromosome 9. This, together with the absence of dysphagia in McLeod syndrome, may help in differential diagnosis. Recent findings suggest a role for the endothelin system of the striatum in the pathogenesis of McLeod syndrome.
- - - - - - - - - -
ranking = 1
keywords = finger
(Clic here for more details about this article)

13/37. An unusual case of bilaterally symmetrical neuropathic osteoarthropathy of the midfoot as a result of lyme disease-induced peripheral neuropathy: a case report.

    The first known report of a patient with lyme disease-induced peripheral neuropathy resulting in bilaterally symmetrical "Charcot" changes of the midfoot is reported. An extensive review of the literature failed to produce any known cases of neuropathic osteoarthropathy that would be linked directly or indirectly with lyme disease-induced peripheral neuropathy. The relationship between lyme disease, the secondary neurologic manifestations caused by the infection, and neuropathic osteoarthropathy are discussed.
- - - - - - - - - -
ranking = 1283.6204772951
keywords = osteoarthropathy
(Clic here for more details about this article)

14/37. New acute myeloid leukemia-derived cell line: MUTZ-8 with 5q-.

    The advent of continuous human leukemia-lymphoma cell lines as a rich resource of abundant, accessible and manipulable living cells has contributed significantly to a better understanding of the pathophysiology of hematopoietic tumors. We describe the establishment of the new continuous leukemia cell line MUTZ-8 from a patient with acute myeloid leukemia (AML): MUTZ-8 was derived from the peripheral blood of a 63-year-old woman with AML M4 (25 years after onset of myelodysplastic syndromes, MDS). dna fingerprinting confirmed authenticity and derivation of the cell line. The immunoprofiling as determined by flow cytometry showed that MUTZ-8 is positive mainly for myeloid but also some monocytic and megakaryocytic markers, whereas it is negative for T cell, B cell and erythroid markers. The cell line is constitutively cytokine-dependent, proliferation requiring externally added cytokines. The cytokine response profiles showed a two- to 10-fold growth stimulation of the cells by various cytokines, whereas other cytokines led to growth inhibition. cytogenetic analysis confirmed the common clonal derivation of the cell line and the malignant clone predominating at the times of sampling. MUTZ-8 displays a deletion of the 5q31 AML/MDS region effected by a non-reciprocal translocation, t(5;11)(q21;q10). The scientific utility of MUTZ-8 lies (1) in its cluster of pathognomonic cytogenetic alterations including a 5q31 breakpoint and (2) in its absolute cytokine dependency and proliferative response to various cytokines.
- - - - - - - - - -
ranking = 1
keywords = finger
(Clic here for more details about this article)

15/37. Partial and significant reversal of progressive visual and neurological deficits in multiple sclerosis: a possible therapeutic effect.

    A 24-year-old woman developed over 18 months fluctuating and progressively increasing visual and cerebellar deficits, due to multiple sclerosis. The minimum visual acuities were 3/19 on the right and the perception of finger movement at 1 m on the left. She became able to walk only with a wide base and with support. Her condition deteriorated despite the use of methylprednisolone, prednisone and interferon beta-1b, so these were ceased. azathioprine, 25 mg daily increasing to 100 mg daily, reducing following abnormal liver function tests to 50 mg daily, and glatiramer acetate 20 mg daily were commenced. The visual acuities two months later were 3/7.5 on the right and 3/6 on the left and after 4 months 3/4.5 on the right and 3/3 on the left. She was able after 2 months to walk unaided on a narrow base and after 4 months to jog half a kilometre without difficulty. Progressive multiple sclerosis has been held to be irreversible. The response in the present case therefore raises the possibility of a drug effect. It indicates the need for trials of combined immunomodulatory and immunosuppressive therapies in progressive multiple sclerosis.
- - - - - - - - - -
ranking = 1
keywords = finger
(Clic here for more details about this article)

16/37. Eosinophilic fasciitis leading to painless contractures.

    We report on an 11-year-old girl who developed multiple joint contractures over a period of 3 months. The disease presented with progressive involvement of the fingers, elbows, shoulders, knees and feet and was not accompanied by other symptoms. Laboratory investigations showed eosinophilia and hypergammaglobulinaemia. Muscle ultrasound and magnetic resonance imaging of the right forearm revealed thickened fascia and a full thickness biopsy confirmed the diagnosis of eosinophilic fasciitis. Following treatment with pulsed steroids, the contractures resolved. CONCLUSION: our case shows that eosinophilic fasciitis can present without skin involvement and arthritis and therefore has to be regarded as a differential diagnosis of contractures in childhood. Pulsed steroid treatment was effective and without side-effects.
- - - - - - - - - -
ranking = 1
keywords = finger
(Clic here for more details about this article)

17/37. athetosis II: the syndrome of mild athetoid cerebral palsy.

    We describe 8 patients who presented with continuous, irregular movements occurring independently in individual fingers and, in some cases, toes, in the setting of mild dystonia present since early childhood and not associated with major disability. The finger movements varied from low-amplitude quivering or wriggling to larger amplitude movements in the plane of abduction-adduction as well as flexion-extension; they were asymmetrical but not unilateral. Quivering or working of the facial muscles was seen in 5 patients. Most patients reported worsening of the movements over the years, but there was no other evidence of a progressive neurological disease. We classify the movement disorder as athetosis as described by Hammond and Shaw and the syndrome as mild athetoid cerebral palsy.
- - - - - - - - - -
ranking = 2
keywords = finger
(Clic here for more details about this article)

18/37. Tourette's syndrome with rapid deterioration by self-mutilation of the upper lip.

    A case of Tourette's syndrome is presented in a thirteen-year-old boy with obsessive-compulsive symptoms including self-mutilation of the upper lip. His upper lip injury was caused by complication of picking with fingernail, and self-biting with the lower anterior teeth. It became rapidly worse and the median part of the upper lip collapsed. But the placement of an acrylic splint was able to prevent further damage of the upper lip.
- - - - - - - - - -
ranking = 1
keywords = finger
(Clic here for more details about this article)

19/37. Hypertrophic pulmonary osteoarthropathy associated with disease progression in renal cell carcinoma.

    Hypertrophic osteoarthropathy (HOA) is a paraneoplastic syndrome characterized by periosteal formation and arthritis and usually accompanied by clubbing ofthe digits. Many malignancies have been associated with HOA/clubbing, most being lung cancer and lung metastatic cancer. We herein present a 53-year-old man with lung metastasis from renal cell carcinoma (RCC). HOA occurred one year after the metastasis. Reviewing the literature, only five cases of RCC with HOA have been reported. If their clinical history was traceable, they consistently had disease progression. We reviewed the pathogenesis of HOA/clubbing and linked the prognosis of RCC to relevant cytokines. Therefore, HOA not only heralds a progression of disease but suggests a probable therapeutic choice by targeting some cytokines.
- - - - - - - - - -
ranking = 1069.6837310792
keywords = osteoarthropathy
(Clic here for more details about this article)

20/37. Demyelinating disease in monoclonal gammopathy of undetermined significance.

    We describe herein the case of a 57 year old man who, over the last five years, has presented ataxic and spastic gait on the right side, a reduction in fine motor movement of the fingers mainly on the right side, superficial right side brachiocrural hypoesthesia and a marked dysarthria associated with internuclear ophthalmoplegia. The neurological picture, after an initial progressive worsening which lasted some months, remained relatively stable over the years. Repeated magnetic resonance imaging (MRI) of the brain and spinal cord documented the presence of demyelinating plaques spread in the white matter of the periventricular region and the semioval centres, and a right side paramedian plaque at the C4-C5 level, none of which were in the active phase. oligoclonal bands were revealed in the cerebrospinal fluid (CSF). Monoclonal IgM/lambda gammopathy with anti-myelin and anti-nucleo reactivity, found with serum immunofixation, were confirmed several times in successive annual controls, not associated to myeloproliferative pathology. The lack of progression in the clinical picture would seem to contradict the diagnosis of late multiple sclerosis. The presence of antibody activity against the myelin might support the hypothesis of a pathogenetic role of the immunoglobulins at the onset of the demyelinating disease in this patient. However, in the end, there is the possibility of casual association with a poorly functioning immune system connected to age.
- - - - - - - - - -
ranking = 1
keywords = finger
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Disease Progression'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.