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PubMed1984

Immunologic abnormalities in patients receiving multiple blood transfusions.

Concern for the potential risk of the acquired immunodeficiency syndrome among blood cell recipients led us to measure immunologic functions in patients who had received multiple transfusions. Abnormalities of two immunologic tests, natural killer cell function and helper/suppressor (T4/T8) lymphocyte subpopulation ratio, have characterized patients with the acquired immunodeficiency syndrome and are prevalent in populations at risk for this syndrome. Natural killer cell function was severely depressed in multiply transfused patients. However, T4/T8 ratios were normal in this population. The role of chronic antigenic stimulation was studied by measurement of HLA-DR expression on T cells. The expression of HLA-DR antigen is markedly elevated in multiply transfused patients. These results show that chronic exposure to foreign antigens may be associated with abnormalities of immunologic function, but that chronically transfused patients do not have the same immunologic profile as reported in some homosexuals and hemophiliacs.

Acquired Immunodeficiency Syndrome↗
PubMed1990

[Contribution of magnetic resonance imaging in 100 cases of refractory partial epilepsy with normal CT scans].

One hundred epileptic patients were included in this study according to the following criteria: intractable partial epilepsy, normal CT scan and focal EEG abnormalities. Eighty-nine patients were suffering from complex partial seizures of temporal or frontal origin, 55 and 34 cases respectively. Eleven patients presented with only simple partial seizures. MRI was abnormal in 31 patients. The abnormalities were: focal T2 increased signal intensity (13 cases) most often temporal (10 cases), cryptic arteriovenous malformation (4 cases), focal T1 and T2 signal abnormality (4 cases), focal atrophy (2 cases) and multiple abnormal T2 signals scattered in the white matter (8 cases). The site of MRI abnormalities was consistent with electroclinical data in 22 patients, of whom 20 had a temporal lobe epilepsy. Thus MRI proved to be more often abnormal in temporal than in frontal lobe epilepsy (36 p. 100 and 5.9 p. 100 respectively) when the CT scan is normal. However MRI data, particularly focal T2 hypersignals should be confronted to electroclinical and metabolic findings whenever functional surgery is considered.

Adolescent↗
PubMed1996

[Use of epidemiological data to predict the occurrence of arteriosclerotic diseases in urban residents].

From 1983 to 1986, 100,352 urban residents were screened for cardiovascular disease. Glucose and protein levels in urine, total cholesterol, triglycerides, high density lipoprotein cholesterol, blood pressure, and aortic pulse wave velocity were measured. Retinal examinations and electrocardiography were also done. A follow-up survey was conducted two years after screening. A total of 34,895 subjects had no disease and 301 had arteriosclerotic diseases. The occurrence of cardio- and cerebrovascular diseases could not have been predicted from any one abnormal result on a screening test, but might have been predicted from multiple abnormal results, with each factor having its own weight and a unique association with other factors. The risk of disease increased multiplicatively higher rather than additively with the number of abnormal test results. We used Hayashi's quantification method III to determine which combination of abnormal test results was associated with a higher risk of arterio sclerotic diseases, and thus developed a comprehensive indicator of disease risk by grouping several abnormal test results that were affected by different factors. This evaluation system can be used to predict the onset of arteriosclerotic diseases to some degree and can contribute to preventive medicine.

Aged↗
PubMed1991

Lysosomal hydrolases of different classes are abnormally distributed in brains of patients with Alzheimer disease.

beta-Amyloid formation requires multiple abnormal proteolytic cleavages of amyloid precursor protein (APP), including one within its intramembrane domain. Lysosomes, which contain a wide variety of proteases (cathepsins) and other acid hydrolases, are major sites for the turnover of membrane proteins and other cell constituents. Using immunocytochemistry, immunoelectron microscopy, and enzyme histochemistry, we studied the expression and cellular distributions of 10 lysosomal hydrolases, including 4 cathepsins, in neocortex from patients with Alzheimer disease and control (non-Alzheimer-disease) individuals. In control brains, acid hydrolases were localized exclusively to intracellular lysosome-related compartments, and 8 of the 10 enzymes predominated in neurons. In Alzheimer disease brains, strongly immunoreactive lysosomes and lipofuscin granules accumulated markedly in the perikarya and proximal dendrites of many cortical neurons, some of which were undergoing degeneration. More strikingly, these same hydrolases were present in equally high or higher levels in senile plaques in Alzheimer disease, but they were not found extracellularly in control brains, including those from Parkinson or Huntington disease patients. At the ultrastructural level, hydrolase immunoreactivity in senile plaques was localized to extracellular lipofuscin granules similar in morphology to those within degenerating neurons. Two cathepsins that were undetectable in neurons were absent from senile plaques. These results show that lysosome function is altered in cortical neurons in Alzheimer disease. The presence of a broad spectrum of acid hydrolases in senile plaques indicates that lysosomes and their contents may be liberated from cells, principally neurons and their processes, as they degenerate. Because cathepsins can cleave polypeptide sites on APP relevant for beta-amyloid formation, their abnormal extracellular localization and dysregulation in Alzheimer disease can account for the multiple hydrolytic events in beta-amyloid formation. The actions of membrane-degrading acid hydrolases could also explain how the intramembrane portion of APP containing the C terminus of beta-amyloid becomes accessible to proteases.

Aged↗
PubMed1997

Metabolic evaluation of patients with recurrent idiopathic calcium nephrolithiasis.

BACKGROUND: Metabolic evaluation in recurrent idiopathic calcium renal stone-formers (RCSF) was analysed with respect to the following questions: (1) do three 24-h urines provide more diagnostic accuracy in the metabolic evaluation of RCSF than 1 or 2 urines?; (2) does time after stone event influence the diagnostic yield?; (3) is urine composition at weekends different from that at mid-week?; (4) what are the prevalences of the most important risk factors (RF) of idiopathic calcium nephrolithiasis, i.e. low volume (LV), hypercalciuria (HC), hyperoxaluria (HO), hyperuricosuria (HU), hypocitraturia (Hypo-Cit), and hypomagnesiuria (Hypo-Mg)?; and (5) do male RCSF differ from females with respect to urinary RFs? METHODS: Seventy-five RCSF (59 men, 16 women) collected three 24-h urines (U1-3) while on free-choice diet. To account for possible variations in lifestyle and diet, U1 and U3 had to be collected midweek and U2 at a weekend. RESULTS: When considering all three urines together (U1 + U2 + U3), the number of RF abnormalities/patient was 2.8 +/- 0.1, higher than numbers of any combination of two urines or of any single urine (P = 0.0001 for all comparisons). The number of RF abnormalities also rose with time after stone event, from 0.8 +/- 0.1 (range 0-4) in U1 to 1.1 +/- 0.1 (range 0-4) in U3 (P = 0.011 vs U1). Whereas all other RF did not change between collections, urine volume was lower in U2 (1793 +/- 90 ml) than in U1 (2071 +/- 97 ml, P = 0.0001 vs U2) and U3 (1946 +/- 97 ml, P = 0.046 vs U2). At least 1 abnormality was found in 85.3% of all RCSF, and multiple abnormalities occurred in 47%. The most frequent RF was HC (39%), followed by HO and LV (32% each), Hypo-Cit (29%), HU (23%) and Hypo-Mg (19%). Males more often had Hypo-Cit (P < 0.001) and Hypo-Mg (P < 0.01) than females, whereas HO was more frequent in female RCSF (P < 0.025 vs males). CONCLUSIONS: Diagnostic accuracy of metabolic evaluation in RCSF increases both with the number of urines collected and the time passing after a stone event. Urines collected at weekends differ from those of the week only by their lower volumes. Abnormalities of RF for calcium nephrolithiasis can be detected in 85.3% of RCSF, and HC is the most common RF both in male and female RCSF.

Adult↗
PubMed1998

Bony orbital morphology in neurofibromatosis type 1 (NF1).

We retrospectively compared patients with NF1 with and without optic pathway gliomas (OPG) to determine the incidence and range of orbital developmental abnormalities and compared the incidence of OPG in African-Americans and whites. From cranial MR scans, we manually measured 14 orbital dimensions, compared them to published standards of Waitzman et al, calculated orbital volumes, and determined the presence or absence of volumetric symmetry (delta v) (delta v < or = 3 cm3 was considered to be symmetrical). We compared the results of orbital configurational assessment between patients with (group I) and those without OPG (group II). The study population comprised 58 patients, 24 boys, 18 African-American, and one Hispanic. Median age at imaging was 7 years (range 0.5-25.5 years). Fifty-eight percent had conformational abnormalities, 16 of whom had more than one abnormality (28%), the most frequent being increased intertemporal distance (n=10), increased lateral orbital distance (n=8), increased medial wall length (n=6), and decreased medial wall length (n=6). The increased intertemporal and lateral orbital distances may contribute to the appearance of hypertelorism. Only two patients had sphenoid wing hypoplasia. We found a high incidence of orbital dimensional abnormalities in the total population but more often saw multiple abnormalities in patients with OPG. However, no pattern of configurational abnormality emerged. OPG is less frequent in African-Americans. Orbital volumetric disparity seems to be independent of the presence of OPG.

Adolescent↗
PubMed2005

Combined microtia and aural atresia: issues in cochlear implantation.

OBJECTIVES: This article presents the first report of cochlear implantation in a patient with congenital aural atresia, microtia, dysplastic cochlea and internal auditory canals, and bilateral profound sensorineural hearing loss (HL). This rare combination requires special management considerations. Preoperative issues include thorough evaluation of computed tomography and magnetic resonance imaging to determine favorable anatomy, cochlear implantation candidacy, and surgical planning. Intraoperative concerns include incision placement, surgical approach to the middle ear, and abnormal facial nerve anatomy. Postoperative use of a special headset combining a microphone and transmitter coil is required. STUDY DESIGN: Case report and literature review. METHODS: The patient's chart was reviewed for diagnostic studies, operative strategy, and postoperative auditory stimulation and testing. A literature review was performed. RESULTS: A 2-year-old male presented with bilateral aural atresia, microtia, and profound sensorineural HL. Imaging studies revealed multiple abnormalities of the cochlea, vestibule, and internal auditory canal, all of which were more favorable on the right side. An incision was designed to accommodate future microtia repair. The cochlear implant was placed without difficulty by way of a facial recess approach to the middle ear. Postoperative results include the detection of Ling sounds and voices in the environment as well as the ability to locate sounds. CONCLUSIONS: This is the first report of cochlear implantation in a patient with bilateral aural atresia, microtia, and profound sensorineural HL in conjunction with multiple inner ear abnormalities. Close collaboration among the otologist, neuroradiologist, and plastic surgeon is essential to coordinate surgical management and optimize cosmetic and functional outcomes in this unique population.

Child, Preschool↗
PubMed1996

Infantile spasms associated with proximal duplication of chromosome 15q.

We describe a case of infantile spasms associated with a chromosome abnormality (supernumerary inverted duplication of chromosome 15 [47,XX,+inv dup(15)]). The patient was nondysmorphic and presented with mild hypotonia and delay in acquisition of gross motor milestones before the diagnosis of seizures at age 7 months. Additional features included unilateral sensorineural deafness and torticollis. Molecular cytogenetic studies confirmed that the patient has a large inv dup(15). Inv dup(15) chromosomes are variable with respect to the size and genetic composition of the chromosome and in their phenotypic effects. Patients with small inv dup(15s) may have no phenotypic abnormalities, whereas patients with large inv dup(15s) may have multiple abnormalities. ACTH therapy resulted in prompt remission of seizures and resolution of EEG abnormalities. This is the second report of a patient with IS and a supernumerary inv dup(15). Several genes code for neurotransmitter receptor subunits located in the duplicated region of chromosome 15, and abnormal dosage of these genes may be involved in the genesis of seizure activity in carriers of the inv dup(15). Chromosome analysis may lead to a specific diagnosis in infants with unexplained infantile spasms.

Adrenocorticotropic Hormone↗
PubMed1993

Imaging of dialysis access: a review of 67 failing fistulas investigated by intravenous digital subtraction angiography.

We have reviewed 67 failing haemodialysis fistulas imaged by intravenous digital subtraction angiography (IVDSA). Peripheral venous injection of non-ionic contrast was used in all examinations. No complications relating to peripheral injection, contrast dose or fluid load were experienced. Image quality was poor, owing to inadequate vascular opacification, in 1/67. Image quality was excellent (53/67), or good (13/67) in the remaining 66. 56/66 of these examinations were diagnostic. Diagnoses included abnormalities of feeding arteries, anastomoses, draining veins, and central veins. Multiple abnormalities were demonstrated in 10/56 examinations. Conventional arm venography was performed in addition to IVDSA in five cases where venous images were inadequate owing to anastomotic obstruction (3/5) or poor opacification (2/5). 5/66 examinations were non-diagnostic owing to failure to image the central veins where no cause for fistula failure had been demonstrated. A further 5/66 examinations were non-diagnostic owing to failure to obtain oblique projections of the shunt where vascular details was obscured by overlapping vessels. The authors recommended routine imaging of the dialysis shunt in two planes and central venous imaging in all cases. This would have resulted in reduction of the failure rate from 16% to 1.5% in this series. IVDSA using a peripheral injection technique is simple, free from complications, and provides good quality images of both arterial and venous components of the fistula. Images of vessels not directly involved in fistula formation are routinely obtained and aid the planning of fistula revision.

Angiography, Digital Subtraction↗
PubMed1995

Congenital tracheal cartilaginous sleeve.

The congenital tracheal cartilaginous sleeve (TCS) results from a vertical fusion of the tracheal cartilages. This rare malformation is usually associated with one of the craniosynostosis syndromes, such as Crouzon's disease, Pfeiffer's syndrome, or Goldenhar's syndrome. Three new cases of TCS are reported, two with autopsy findings including the histopathology of horizontal tracheal sections. Salient features of the clinical presentation, diagnostic evaluation, endoscopic findings, histopathology, treatment, and prognosis for TCS are summarized from the perspective of the otolaryngologist. In addition, the literature is reviewed, and previously reported cases are discussed. Although infants with TCS often have multiple abnormalities, this tracheal malformation is not incompatible with life. Since multiple lesions of the larynx and trachea may be present, endoscopic evaluation is recommended for infants with TCS who experience airway distress. A smooth trachea lacking the normal ridges of tracheal arches suggests the diagnosis of TCS. With early recognition and appropriate management (including tracheotomy, if necessary, and aggressive management of pulmonary hygiene), patients may survive into childhood.

Cartilage↗
PubMed1985

Corpus and cervix cancer: a nutritional comparison.

Nutritional parameters of patients with cervical cancer and endometrial cancer were prospectively evaluated. Analysis of anthropometric assessments that were abnormal in as many as 52% of patients indicated little difference between organ sites in mean values or percentage of patients with abnormal values. Biochemical parameters included serum albumin, total iron-binding capacity, copper, zinc, and creatinine height index. An abnormal value was present in as many as 60% of patients. Multiple abnormal values were more likely to be present in patients with endometrial cancer. Abnormal vitamin levels were more commonly present in patients with cervical cancer. When compared to control values, levels of plasma folate, beta carotene, and vitamin C were significantly lower in patients with cervical cancer. Patients with endometrial cancer had significantly lower levels of beta carotene and vitamin C. Analysis of surgical complications suggested a correlation with specific nutritional deficits.

Adult↗
PubMed2004

Observer studies involving detection and localization: modeling, analysis, and validation.

Although the receiver operating characteristic (ROC) paradigm is the accepted method for evaluation of diagnostic imaging systems, it has some serious shortcomings inasmuch as it is restricted to one observer report per image. By contrast the free-response ROC (FROC) paradigm and associated analysis method allows the observer to report multiple abnormalities within each imaging study, and uses the location of reported abnormalities to improve the measurement. Because the ROC method cannot accommodate multiple responses or use location information, its statistical power will suffer. The FROC paradigm/analysis has not enjoyed widespread acceptance because of concern about whether responses made to the same diagnostic study can be treated as independent. We propose a new jackknife FROC analysis method (JAFROC) that does not make the independence assumption. The new analysis method combines elements of FROC and the Dorfman-Berbaum-Metz (DBM) methods. To compare JAFROC to an earlier free-response analysis method (specifically the alternative free-response, or AFROC method), and to the DBM method, which uses conventional ROC scoring, we developed a model for generating simulated FROC data. The simulation model is based on an eye-movement model of how experts evaluate images. It allowed us to examine null hypothesis (NH) behavior and statistical power of the different methods. We found that AFROC analysis did not pass the NH test, being unduly conservative. Both the JAFROC method and the DBM method passed the NH test, but JAFROC had more statistical power than the DBM method. The results of this comparison suggest that future studies of diagnostic performance may enjoy improved statistical power or reduced sample size requirements through the use of the JAFROC method.

Algorithms↗
PubMed2004

Clinical implications of advanced molecular cytogenetics in cancer.

The field of cytogenetics has already entered the molecular era and a rapid expansion of its contribution is seen in genomic disease management. Among the evolving advanced molecular techniques, with an impeccable balance of high specificity, sensitivity and assay rapidity, fluorescence in situ hybridization has made its home in routine clinical laboratory. Today, its clinical application is vivid in every phase of disease management of a number of malignancies. The rapid growth in the knowledge of specific associations between distinct chromosomal abnormalities and different types of cancers will necessitate simultaneous detection of multiple abnormalities using multicolor/multiplex fluorescence in situ hybridization tests more often in the near future. Also, as the human genome sequence is ascertained, genome-wide screening with microarray technology will gain eminence in the clinical scenario, yield better solutions and bring the concept of personalized medicine in cancer closer to reality than ever before.

Chromosome Aberrations↗
PubMed1992

[Chromosomal abnormalities in carcinoma and hyperplasia of the prostate].

Epithelioid cells that had grown in short-term cultures derived from 10 cases of adenocarcinoma (PCa) and 10 cases of hyperplasia (BPH) of the prostate were karyotyped by the G-banding method for the pathogenesis of these disease. PCa specimens included 4 well, 2 moderately, and 4 poorly differentiated types, and were obtained by perineal needle biopsy from 4 patients in stage B and 6 patients in stage D2. Cells liberated from metastatic lymph node lesions of 2 patients with poorly differentiated PCa were also analyzed directly without cultivation in vitro. All BPH specimens were obtained by prostatectomy, and cells that had grown in epithelioid pattern in short-term cultures were analyzed. In PCa, hyperploidy was seen in all but 2 cases. Structure analysis disclosed abnormality of chromosome 16 in 4 PCa, deletion of Y in 3 PCa, abnormality of chromosomes 7, 14, 15, 18, and 19 in 2 PCa, and abnormality of chromosomes 3, 4, 17, and 21 in 1 PCa. Multiple markers were observed in 1 patient, and hyperploidy in another patient with metastatic lymph nodes. All but 2 cases of BPH were diploid. Normal male karyotypes were seen in 6 BPH. Trisomy of chromosomes 7 and 16 were observed in 2 BPH. Of 4 patients with stage B PCa, 3 who have been alive for 3 years to date had multiple abnormalities, whereas 1 patient who died 2 years after diagnosis had few abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenocarcinoma↗