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Biomedical subjects

J E Parisi

Publications and source records attributed to J E Parisi.

At least 73 records · Page 4Linked to original sources

The trends in incidence of primary brain tumors in the population of Rochester, Minnesota.

A number of reports have suggested an increasing incidence of primary brain tumors, especially malignant astrocytomas, in the elderly population. To investigate this issue, we analyzed the incidence and temporal trends of primary intracranial neoplasms diagnosed in the population of Rochester, Minnesota, over the 40 years between 1950 and 1990. The incidence of symptomatic primary brain tumors (excluding patients diagnosed incidentally at autopsy and by neuroimaging studies) increased from 9.5 per 100,000 population per year in 1950 to 1969 to 12.5 per 100,000 per year in 1970 to 1989; this change was not statistically significant (chi 2 trend, 1.89; p = 0.17). While the incidence of pituitary adenomas increased significantly between the two periods (chi 2 trend, 4.44; p = 0.04), the incidence trends of all gliomas, malignant astrocytomas, and meningiomas showed no change among persons younger than 65 years as well as those 65 years and older. The number of patients incidentally found to have neoplasms by neuroimaging studies increased in the recent 20-year period (chi 2 trend, 4.08; p = 0.04). The average age- and sex-adjusted incidence rates per 100,000 per year during the study period in the population of Rochester, Minnesota, for symptomatic tumors were 5.0 for all gliomas, 3.3 for malignant astrocytomas, 2.0 for meningiomas, and 2.4 for pituitary adenomas. In conclusion, our data indicate that the reported increase in the incidence of primary brain tumors is an artifact of improvement in diagnostic technology and practice.

Adenoma↗

The size of the anterior spinal artery in relation to the arteria medullaris magna anterior in humans.

We studied the anterior spinal artery (ASA) in 25 cadaveric human spinal cords to determine the cross-sectional area of the ASA cephalad and caudal to the entry of the arteria medullaris magna anterior (AMMA). Spinal cords were removed en bloc and latex was injected into the AMMA. The preparations were then fixed in formalin, embedded in paraffin, sectioned, mounted, and stained with hematoxylin and eosin. The diameter and cross-sectional area of the ASA 1 cm above and 1 cm below the entry of the AMMA were measured. The mean radius of the ASA above the entry of AMMA was 0.14 +/- 0.03 mm compared to 0.28 +/- 0.05 mm below the entry of the AMMA (P < 0.001). According to Poiseuille's equation, the resistance to blood flow in the ASA cephalad to the AMMA would be 14.8 times greater than the resistance to blood flow caudal to the AMMA. This resistance could affect the distribution of blood flow in the distal spinal cord whenever flow in the AMMA or distal ASA is altered.

Adult↗

Intractable frontal lobe epilepsy: pathological and MRI features.

The clinical, pathological, and at least one year follow-up of 48 patients with intractable frontal lobe partial epilepsy who underwent surgical treatment for their seizure disorder were reviewed. The group consisted of 27 males and 21 females. Preoperative magnetic resonance imaging (MRI) was normal (26 patients), demonstrated focal frontal lobe (16 patients) or multilobar signal abnormalities (6 patients). Postoperatively patients were divided into one of four groups based upon the degree of seizure activity (Class I: seizure free, Class IV: little to no improvement, Classes II/III: intermediate). Eight patients with tumors (low grade gliomas) were Class I (N = 6) or Class II (N = 2) postoperatively. The remaining six patients with focal, completely resected pathological lesions (e.g. tubers, contusions, etc.) also had Class I or Class II outcomes. Of the 31 patients with the pathological diagnosis of gliosis, the outcome was dependent on the MRI appearance. Preoperative MRI scans of these patients were normal (N = 23), or had focal frontal lobe (N = 2) or multilobar (N = 6) abnormalities. The gliosis patients with unilateral frontal MRI lesions had a good outcome (Class I or II) while those with multilobar MRI abnormalities were all Class IV. Successful outcome correlated strongly with both focal frontal lobe MRI and pathological abnormalities in contrast to the less favorable results seen in patients with normal head MRI scans and gliosis or no pathological abnormality on pathological examination. Multilobar MRI abnormalities invariably had the poorest outcome of all patient groups. Thus presurgical MRI is an important tool and predictor of surgical outcome in patients with frontal lobe epilepsy.

Epilepsy, Frontal Lobe↗

Progressive supranuclear palsy: neuropathologically based diagnostic clinical criteria.

All cases examined postmortem at the Mayo Clinic that met the classic neuropathological criteria for progressive supranuclear palsy (PSP) were identified for retrospective clinical analyses. The necropsy material was re-examined by a second neuropathologist to confirm the pathological diagnosis of PSP, yielding 12 cases. A range of clinical signs were documented in these patients, with numerous findings beyond those noted in the original descriptions of this disorder. Atypical clinical findings included absence of supranuclear gaze palsy (two cases), prominent asymmetry (two), arm dystonia (two), upper limb apraxia (two), myoclonus (two), chorea (one), eyelid opening apraxia (one), and respiratory disturbance (one). A definite clinical diagnosis of PSP had been made during life in only eight of the 12 patients. From the retrospective analysis of these 12 cases, a set of clinical criteria were developed for the premortem diagnosis of PSP emphasising differences from other akinetic-rigid disorders.

Age of Onset↗

Aromatase expression in human germinomas with possible biological effects.

Gonadal aromatase expression has been demonstrated in human Leydig, granulosa, and thecal cells, but never in human germ cells. In an attempt to explain the unique occurrence of isosexual precocious puberty in a young girl with a hCG-secreting suprasellar germinoma, we demonstrated the presence of aromatase expression in the germ cell component of this tumor. Immunohistochemical staining for P450-aromatase and hCG using a peroxidase-labeled streptaviden-biotin technique was performed on tumor specimens from the above patient and from four other subjects with central nervous system germinoma. Cytoplasmic aromatase staining was present in the germinoma cells of four of five cases of central nervous system germinoma studied. Staining was absent in the lymphocytic element within the tumor and in negative control tissues. The demonstration of aromatase activity in the malignant element of human germinomas indicates that aromatase expression can occur in human germ cells after malignant transformation. This parallels the finding that the transformation of Sertoli cells to sex cord tumor with annular tubules in Peutz Jeghers syndrome is associated with the induction of marked aromatase expression and systemic estrogen effect. We propose that tumor aromatase played a similar role in the unique occurrence of isosexual precocity in a girl with a suprasellar germinoma.

Aromatase↗

Meningeal biopsy in intracranial hypotension: meningeal enhancement on MRI.

Intracranial hypotension is a cause of diffuse enhancement of the pachymeninx with gadolinium, which often is associated with subdural fluid collections. We reviewed the results of meningeal biopsy in six patients with intracranial hypotension and diffuse pachymeningeal enhancement to correlate the MRI findings with histopathologic observations and to explain the abnormalities seen on MRI. Grossly, the dura mater was unremarkable in all patients, as were the leptomeninges, except for one patient with prolonged (18 months) intracranial hypotension in whom the arachnoid was thickened and opaque. Microscopically, the dura mater was entirely normal on its epidural aspect; however, a fairly thin zone of fibroblasts and thin-walled small blood vessels in an amorphous matrix was noted on the subdural aspect. In the patient with longstanding symptoms, diffuse benign arachnoidal cell proliferation was also noted, probably a reaction triggered by longstanding changes in the subdural area, as noted in the five other patients. There was no evidence of inflammation, infection, or metastatic neoplasia. These findings suggest that in intracranial hypotension, the dural-meningeal abnormalities probably represent reactive secondary phenomena, likely related to hydrostatic changes in the CSF, and not a primary meningeal process.

Aged↗

Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia.

We describe a progressive neurologic disorder in three sisters characterized clinically by palatal myoclonus, spastic weakness, hyperreflexia, mild cerebellar dysfunction, and ocular motor abnormalities. Postmortem examination of one patient demonstrated widespread Rosenthal fiber deposition associated with demyelination. The father previously was reported to have similar pathologic findings and carried a clinical diagnosis of multiple sclerosis. These clinical and pathologic findings describe a rare familial leukodystrophy that corresponds most closely to cases reported as adult Alexander's disease. Although similar pathologically to the well-characterized infantile variant of Alexander's disease, it is not known whether this adult variant represents the same disease process.

Adult↗

Western Nebraska family (family D) with autosomal dominant parkinsonism.

The etiology of Parkinson's disease (PD) remains uncertain. Environmental influences may have an important role, but genetic factors have been firmly implicated in several recently reported kindreds. We studied a family (family D) whose ancestors probably immigrated to the United States from England. The pedigree contains 188 individuals spanning six generations with 18 affected members. Autosomal dominant inheritance is present. Typical levodopa-responsive PD with bradykinesia, rigidity, resting tremor, and impaired postural reflexes develops. Eye movement abnormalities, pyramidal and cerebellar signs, sensory disturbances, and orthostatic blood pressure changes do not occur. Disease progression is slow. PET with [18F]-6-fluoro-L-dopa (FD) performed on an affected individual revealed decreased uptake of FD in a pattern consistent with PD. Autopsy performed on another affected individual demonstrated neuronal and pigmentary loss, gliosis, and Lewy bodies in the substantia nigra pars compacta. This large kindred appears to represent a neurodegenerative disorder closely resembling, if not identical to, idiopathic PD.

Aged↗

Sudden death from aneurysmal subarachnoid hemorrhage.

Some patients with aneurysmal subarachnoid hemorrhage (SAH) never reach the hospital alive ("sudden death") and, although their numbers are significant, they are not included in most studies of SAH. To clarify the clinical profile of sudden death from aneurysmal SAH, we reviewed the epidemiology and clinicopathologic features of patients with aneurysmal SAH who never reached medical attention. Using the medical record linkage system employed for epidemiologic studies for the population of Rochester, Minnesota, we identified all patients who were diagnosed with aneurysmal SAH between 1960 and 1989. There were 80 women and 33 men with a mean age of 55 years. Of these 113 patients, 13 (12%) died without reaching medical attention. The proportion of those with sudden death remained stable during the study period. In comparing patients with sudden death with those who reached medical attention, the only significant variable was the frequency of posterior circulation aneurysms that was found in 38%, compared with 14% in those who received medical attention (p = 0.042). At autopsy, intraventricular hemorrhage was present in 12 patients (92%) with sudden death, and intracerebral hemorrhage was present in two (15%). Twelve patients (92%) had acute pulmonary edema. In our community, the frequency of sudden death from aneurysmal SAH has not changed during the last three decades in spite of the advances in medical care. The typical clinical profile of sudden death in SAH includes intraventricular hemorrhage, pulmonary edema, and a ruptured posterior circulation aneurysm. Intracerebral hemorrhage is uncommonly associated with sudden death from aneurysmal SAH.

Adult↗

False-positive inferior petrosal sinus sampling in the diagnosis of Cushing's disease. Report of two cases.

Inferior petrosal sinus sampling (IPSS) for adrenocorticotropic hormone (ACTH) levels in patients with Cushing's syndrome has become a useful method to distinguish ACTH-secreting pituitary tumors (Cushing's disease) from other causes of the syndrome, principally ectopic adrenocorticotropin secretion by an occult tumor. Although the test is generally regarded as highly specific, the authors recently encountered two patients whose IPSS measurements were false-positive for Cushing's disease. The results of IPSS suggested a pituitary origin of ACTH secretion in both patients, but transsphenoidal surgery failed to disclose a pituitary adenoma or to improve postoperative plasma cortisol levels. Both patients subsequently were found to have an ACTH-secreting carcinoid tumor of the lung. The false-positive IPSS studies were due to periodic hormonogenesis. The patients must be hypercortisolemic at the time IPSS is performed for the study to be valid.

Adrenocorticotropic Hormone↗

Cortical petechial hemorrhage, leukoencephalopathy, and subacute dementia associated with seizures due to cerebral amyloid angiopathy.

Although cerebral amyloid angiopathy is a well-known cause of cerebral lobar hemorrhage, subacute dementia, seizures, and acute encephalopathy without lobar hemorrhage are infrequently recognized as manifestations of this disease. In this report, we describe a case of cerebral amyloid angiopathy in a 74-year-old woman who had subacute progressive dementia and a superimposed rapid acute neurologic deterioration associated with seizures and the presence of cerebral edema on computed tomographic scans and leukoencephalopathy and cortical petechial hemorrhages on magnetic resonance imaging. A diagnosis of cerebral amyloid angiopathy in conjunction with small cortical infarcts and petechial hemorrhages was confirmed by antemortem biopsy. This clinical and radiologic picture is being increasingly recognized as characteristic of cerebral amyloid angiopathy.

Aged↗

Essential and toxic element concentrations in fresh and formalin-fixed human autopsy tissues.

The concentrations of five essential elements and six potentially toxic elements were determined in seven organs collected at autopsy from 30 human subjects. Elemental analyses were carried out by graphite furnace atomic absorption spectroscopy, and inductively coupled plasma emission spectroscopy, and inductively coupled plasma mass spectroscopy, and concentrations in fresh and formalin-fixed tissues were compared. Formalin-fixation long-term storage has little effect on most element concentrations in tissue, except for Al and Mn, which changed with prolonged storage in formalin. The kidney and liver contained the greatest concentrations of toxic elements compared with other organs, whereas the essential elements were uniformly distributed among all organs. There was no more than a 10-fold difference in the tissue concentration of the elements studied among the organs, except for the concentration of Fe in liver, and Ca and Mg in bone. We also demonstrate that these elements are homogeneously distributed in tissues.

Aluminum↗

Prognostic value of myoclonus status in comatose survivors of cardiac arrest.

Generalized myoclonus status is common in comatose patients after cardiac resuscitation, but its prognostic value is uncertain. We studied the clinical, radiologic, and pathologic findings in 107 consecutive patients who remained comatose after cardiac resuscitation. Myoclonus status was present in 40 patients (37%). Features more prevalent in patients with myoclonus status were burst suppression on electroencephalograms, cerebral edema or cerebral infarcts on computed tomography scans, and acute ischemic neuronal change in all cortical laminae. All patients with myoclonus status died. Of 67 patients without myoclonus, 20 awakened. We conclude that myoclonus status in postanoxic coma should be considered an agonal phenomenon that indicates devastating neocortical damage. Its presence in comatose patients after cardiac arrest must strongly influence the decision to withdraw life support.

Adult↗

Cytogenetic studies of four hemangiopericytomas.

We report cytogenetic studies on four hemangiopericytomas using in situ culture and robotic harvesting. Simple clonal chromosome abnormalities were observed in each of the three successful tumors. A cerebral tumor had a nonconstitutional 46,XX,t(7;12)(p15;q15) karyotype. A recurrent cerebral tumor had two cell lines: one with a 46,XY,t(2;12)(p13;q24.1) karyotype and one with a 46,XY,t(5;7)(q13;p15) karyotype. Each of the metaphases from a lung tumor had a 46,Y,inv(X)(p22.3q13) karyotype. We conclude that simple nonconstitutional balanced chromosome anomalies of 7p15 and 12q are common in cerebral hemangiopericytomas. It is possible that balanced anomalies of these chromosome regions are related to the pathogenesis of this tumor type.

Adult↗

Arterial fibromuscular dysplasia associated with severe alpha 1-antitrypsin deficiency.

OBJECTIVE: To elucidate the putative arteriopathy associated with alpha 1-antitrypsin (alpha 1-AT) deficiency. DESIGN: We retrospectively studied the frequency of occurrence of fibromuscular dysplasia (FMD) in patients with alpha 1-AT deficiency in whom a postmortem examination had been done during a 10-year period at the Mayo Clinic. MATERIAL AND METHODS: The medical records of all patients in whom an autopsy was done at the Mayo Clinic between 1983 and 1992 were reviewed to identify all those with a diagnosis of alpha 1-AT deficiency or FMD. RESULTS: Arterial FMD was found in 2 of 6 patients with alpha 1-AT deficiency (33.3%; 95% confidence interval, 4.3 to 77.7%) in comparison with 23 of 6,690 patients without alpha 1-AT deficiency (0.3%; 95% confidence interval, 0.2 to 0.5%). In both patients with alpha 1-AT deficiency and FMD, the arterial media was thickened and composed of irregular arrays of muscular and connective tissue fibers in a background of mucoid ground substance. CONCLUSION: These findings provide further evidence for an underlying arteriopathy in patients with alpha 1-AT deficiency and suggest that FMD may be a non-specific disorder.

Adult↗

Aggressive medulloblastoma with high-level N-myc amplification.

A 27-year-old man was treated for an aggressive cerebellar medulloblastoma that, at operation, exhibited dural invasion. Six months after gross total resection and radiation therapy, a "surgical metastasis" developed in the lower portion of the surgical scar. The tumor grew rapidly down into the right side of his neck. Chemotherapy failed, and he subsequently died. Cytogenetic and molecular genetic studies revealed multiple numeric and structural chromosome abnormalities, including an abnormal chromosome 17p arm, more than 100-fold N-myc amplification, a rearranged c-myc gene, and a 16-base pair deletion involving exon 7 of the p53 gene. We postulate that these genetic features may have contributed to the aggressive behavior of the tumor.

Adult↗