Cases reported "Disease Progression"

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1/297. A novel form of familial congenital muscular dystrophy in two adolescents.

    We report on two brothers (the product of first-degree consanguineous marriage; aged 15 and 12 years) who presented with severe hypotonia at birth, proximal muscle weakness associated with delayed motor milestones but normal cognitive function. Investigations (at 4 years of age) revealed mildly elevated serum creatine kinase (CK) levels (300 and 824 IU/l; N < or = 210). Muscle biopsies showed minimal change myopathy, no neurogenic atrophy but remarkable type-1 fibre predominance (up to 85.5%) without fibre-type disproportion. Clinical examination at 12 and 9 years, respectively, showed mild facial weakness and high-arched palate in both patients. The younger sibling also had ptosis but otherwise normal external ocular muscles. They showed symmetric proximal muscle weakness and wasting associated with calf-muscle hypertrophy. They could walk independently. A repeat muscle biopsy showed advanced dystrophic changes in the younger patient at the age of 10 years. Virtually all the remaining fibres were type 1. immunohistochemistry revealed normal expression of the dystrophin-glycoprotein complex (DGC), including dystrophin, beta-dystroglycan, alpha-(adhalin), beta-, gamma-, and delta-sarcoglycan, laminin-alpha2 chain (merosin) and syntrophin. Mild dystrophic features and type-1 fibre predominance (92.5%) were seen in the biopsy of the older patient, whereas immunohistochemistry showed normal expression of the DGC. Both cases also showed clear expression of integrin alpha7 at the muscle fibre surface and in the blood vessels. Three years later, they could still walk, but with difficulty, and the older brother showed enlargement of the tongue and echocardiographic features of left ventricular dilated cardiomyopathy.
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2/297. Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.

    Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and progressive encephalopathy combining mental retardation, epilepsy, pyramidal, cerebellar and extrapyramidal signs.
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3/297. Clinical features and surgery for acquired progressive esotropia associated with severe myopia.

    PURPOSE: The purpose of this study was to evaluate the clinical and physiological findings and to determine the most appropriate surgical procedure for acquired progressive esotropia with severe myopia. methods: Thirty-eight cases of acquired progressive esotropia with severe myopia were examined to evaluate their clinical and physiological findings. All cases were divided into four groups according to the limitation of their abduction. The eyeball in group IV is fixed in an extremely adducting position. Thirty-one cases underwent strabismus surgery; medial rectus muscle recession and lateral rectus muscle resection in 23 cases, transposition of superior and inferior rectus muscles (modified Jensen procedure included) in eight cases. RESULTS: The medial rectus muscle recession with the lateral rectus muscle resection procedure was effective in the early stage of acquired progressive esotropia patients. Transposition procedure was effective in the severe abducting limited patients. CONCLUSIONS: As the recession & resection procedure is easier than the transposition procedure, we recommend performing surgery in the earlier stage of the abducting disorder before the eyeball is fixed in an extremely adducting position.
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4/297. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?

    A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.
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5/297. Primary endometrioid carcinoma of fallopian tube. Clinicomorphologic study.

    Twenty cases of primary Fallopian tube endometrioid carcinoma (PFTEC) are presented in the paper. This accounts for 42.5% of all histologic forms of primary Fallopian tube carcinoma (PFTC) found in our Department. The youngest patient was 38, and the oldest 68 years (mean: 56 years). Seven patients were nulliparas. Only two cases were bilateral. According to FIGO staging, 13 cases were evaluated as stage I, 4 as II, and 3 as stage III. Due to the histologic grading, 8 tumors were classified as well, 7 as moderately, and 5 as poorly differentiated. In the time of preparation of the manuscript, 12 women were still alive, 2 of them with recurrent disease. The follow-up of patients without recurrence ranged from 4 to 120 months (median: 63). Eight patients had died (survival time: from 4 to 65 months; median: 26). Metastases were found in 8 patients, especially to ovaries. In 14/20 cases of PFTEC various forms of tubal wall invasion were observed. Blood or lymphatic vessels involvement was found in 9 patients. Six of them had died and one is alive with the symptoms of disease. Immunohistochemical detection of the mutant form of p53 protein and oncogene product, c-erbB-2, was studied in 17 cases. Nine patients exhibited simultaneous p53 protein accumulation and c-erbB-2 expression. 2/9 of these patients are alive with recurrent tumors and 4/9 died. Endometrioid carcinoma of the Fallopian tube can be characterized by a tendency to superficial invasion of tubal wall and in a half of the cases by invasion of vessels. The majority of these tumors were diagnosed at an early stage tumors.
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6/297. Minimal, progressive, and fluctuating hearing losses in children. Characteristics, identification, and management.

    Referring to specific types of hearing loss as "minimal" or "mild" seems to imply that their effects are equally mild or negligible. A growing body of literature, however, supports the notion that such losses can have a significant impact on the communicative and educational development of young children. Although OME is considered a common childhood ailment, mounting evidence suggests that it is not always benign and may contribute to significant educational and communicative difficulties in some young children when accompanied by conductive hearing loss. Even very mild bilateral and unilateral SNHL seems to contribute to problems in the areas of social and emotional function, educational achievement, and communication in some children. Because these hearing losses are so mild, they may not be immediately recognized as the source of such difficulties. The purpose of this report is to heighten the general pediatrician's awareness of the significance of even very mild or minimal hearing losses in children. As the gatekeepers for children's health care, pediatricians are typically the primary recipients of parental expressions of concern and the initiators of evaluations or referrals to address such.
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7/297. A patient with hypertrophic cardiomyopathy accompanied by right ventricular dilation of unknown cause.

    Hypertrophic cardiomyopathy (HCM) is a disease characterized by an unknown cause of hypertrophy in the left or right ventricle. The dilated phase of HCM shows disease conditions resembling dilated cardiomyopathy, such as ventricular dilation, thin ventricular wall, and reduction of the ejection fraction. A patient presented with left ventricular concentric hypertrophy accompanied by right ventricular dilatation of unknown cause. Right ventricular endomyocardial biopsy specimens showed characteristic myocardial disarray. Therefore, there is the possibility that the patient had right and left ventricular HCM in the process toward the dilated phase, in which dilatation first occurred in the right ventricle.
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8/297. Circulating levels of beta-chemokines in systemic lupus erythematosus.

    OBJECTIVE: Recent evidence suggests the role of beta-chemokines and their receptors in human immunodeficiency virus infection. We examined the serum levels of beta-chemokines in patients with systemic lupus erythematosus (SLE). methods: The serum levels of beta-chemokines, macrophage inflammatory protein-1alpha (MIP-1alpha), MIP-1beta, RANTES, and monocyte chemoattractant protein-1 (MCP-1) in patients with SLE were determined by ELISA. RESULTS: There were significant differences between the patients with SLE and healthy controls in the serum concentrations of RANTES (p < 0.001) and MCP-1 (p < 0.01), but not MIP-1alpha (p = 0.07) and MIP-1beta (p = 0.68). A decrease of RANTES and an increase of MCP-1 was observed with the progression of disease activity in the patients with SLE. CONCLUSION: Changes in the serum levels of RANTES and MCP-1 may indicate an interaction between SLE disease activity and the production of beta-chemokines.
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9/297. A retired shipyard worker with rapidly progressive pulmonary interstitial fibrosis.

    We present a case of progressive interstitial fibrosis in a retired shipyard worker who was exposed to asbestos during the postwar era of the late 1940s and 1950s, when asbestos exposures in the workplace were not regulated. Forty years later, at 63 years of age, the patient presented with restrictive lung disease. The patient was diagnosed with asbestos-related pleural disease and parenchymal asbestosis. He remained stable for the next 7 years, but then he began to manifest rapid clinical progression, which raised the possibility of an unusual variant of asbestosis, a concomitant interstitial process, or an unrelated disease. lung biopsy was not undertaken because of the patient's low pulmonary reserve and limited treatment options. An empiric trial of oral steroids was initiated, but his pulmonary status continued to deteriorate and he died of pulmonary failure at 72 years of age. Many diseases result in pulmonary interstitial fibrosis. Ideally, open lung biopsy should be performed, but this procedure inevitably causes complications in many patients with end-stage restrictive lung disease. Furthermore, while the presence of asbestos bodies in tissue sections is a sensitive and specific marker of asbestos exposure, neither this finding nor any other charge is a marker indicative of asbestosis or the severity of asbestosis. With the enactment of the Asbestos Standard in the united states, asbestos exposures have been decreasing in this country. However, industries that produce asbestos products and wastes continue to expand in developing countries. Prevention of asbestos-related lung disease should be a global endeavor, and asbestos exposures should be regulated in both developed and developing countries.
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10/297. University of Miami Division of Clinical pharmacology Therapeutic Rounds: ischemic renal disease.

    Ischemic renal disease (IRD) is defined as a significant reduction in glomerular filtration rate and/or loss of renal parenchyma caused by hemodynamically significant renal artery stenosis. IRD is a common and often overlooked clinical entity that presents in the setting of extrarenal arteriosclerotic vascular disease in older individuals with azotemia. IRD is an important cause of chronic renal failure and end-stage renal disease (ESRD), and many patients with a presumed diagnosis of hypertensive nephrosclerosis may actually have undiagnosed ischemic nephropathy as the cause of their ESRD. The primary reason for establishing the diagnosis of IRD is the hope that correction of a renal artery stenosis will lead to improvement of renal function or a delay in progression to ESRD. There are six typical clinical settings in which the clinician could suspect IRD: acute renal failure caused by the treatment of hypertension, especially with angiotensin-converting enzyme inhibitors; progressive azotemia in a patient with known renovascular hypertension; acute pulmonary edema superimposed on poorly controlled hypertension and renal failure; progressive azotemia in an elderly patient with refractory or severe hypertension; progressive azotemia in an elderly patient with evidence of atherosclerotic disease; and unexplained progressive azotemia in an elderly patient. It is important for the clinician to identify IRD, because IRD represents a potentially reversible cause of chronic renal failure in a hypertensive patient.
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