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PubMed1994

An index for diagnostic accuracy in the multiple disease setting.

RATIONALE AND OBJECTIVES: Evaluation of diagnostic accuracy in the clinical environment should entail some assessment of performance in patients with multiple abnormalities. Although receiver operating characteristic (ROC) curves often are used to assess the diagnostic accuracy of imaging systems, the concept is not easily generalizable to patients with multiple abnormalities. I propose a measure of diagnostic accuracy that is a generalization of the area under the ROC curve for a single disease. METHODS: The proposed measure of diagnostic accuracy is a weighted average of the area under individual ROC curves for the single disease setting and of components representing areas under ROC curves constructed for patients with multiple diseases. Several options are discussed for scoring the presence of abnormality for patients who have two or more abnormalities. RESULTS: Methods of estimating diagnostic accuracy are demonstrated on a set of data in which more than one third of the abnormal cases included multiple abnormalities of chest disease. CONCLUSION: An easy-to-use method is given to estimate diagnostic accuracy in the multiple abnormality setting. This should make it easier to incorporate cases with multiple abnormalities when assessing the diagnostic accuracy of imaging systems.

Diagnosis, Differential↗
PubMedDate not supplied

Elongation of the aorta and multiple cardiovascular abnormalities associated with larsen syndrome.

Larsen syndrome is a genetically heterogeneous group of disorders characterized by multiple joint dislocations and a characteristic face. We describe a girl with the typical features of Larsen syndrome. She also had associated multiple cardiovascular anomalies. The anomalies included elongation of the aorta, bicuspid aortic valve, subaortic stenosis, mitral valve prolapse with mitral regurgitation, atrial septal defect of the secundum type, and a patent ductus arteriosus.

Abnormalities, Multiple↗
PubMed1985

B-cell abnormalities in multiple sclerosis. A hypothesis.

Quantitative and qualitative (oligoclonal band) immunoglobulin abnormalities are one of the hallmarks of multiple sclerosis. The usual explanations offered for these abnormalities include persistent antigenic stimulation, "nonsense" antibody, immunodysregulation, and nonspecific polyclonal stimulation. We propose that an intrinsic B-cell abnormality leads to the immunoglobulin disturbances--perhaps in association with one of the aforementioned mechanisms. Genetic translocations and abnormalities in the normal B cell developmental immunoglobulin rearrangements could produce a selective advantage for certain B cells or enhance transcription causing clonal proliferation with the subsequent production of oligoclonal immunoglobulin bands. Cytogenetic and molecular hybridization studies of the B cell may help answer these issues.

B-Lymphocytes↗
PubMedDate not supplied

The accumulation of multiple genetic abnormalities in individual tumor cells in human breast cancers: clinical prognostic implications.

PURPOSE: Human solid tumors undergo multiple genetic evolutionary changes as they evolve from the normal state to advanced stages of malignancy. This study characterizes the degree of advancement of primary human breast cancers in their genetic evolutionary pathways, and determines if this is of clinical significance. MATERIALS AND METHODS: Correlated cell-by-cell measurements of cell DNA content, HER-2/neu protein content per cell, and H-ras protein content per cell were obtained by means of multiparameter flow cytometry on primary tumors from 95 patients with clinically localized breast cancer. Laboratory findings were correlated with subsequent clinical course in 91 of these patients. RESULTS: Multiple genetic abnormalities were found to accumulate in individual cells in primary human breast cancers. Almost all tumors contained subsets of cells with one, two, or three abnormalities per cell in various combinations. After a median follow-up time of 32 months, 11 of 13 patients with early recurrence had primary tumors in which more than 5% of cells were hypertetraploid, overexpressed HER-2/neu protein, and overexpressed H-ras protein (triple-positive cells). The duration of disease-free survival among patients with primary tumors that contained triple-positive cells was significantly shorter than for patients whose tumors did not contain triple-positive cells. The presence of subpopulations of cells with maximums of only one abnormality per cell or only two abnormalities per cell, in any combination, was of no prognostic significance. Among patients whose nodal status was known, 12 had recurrent disease, and all had positive axillary nodes. Among 36 patients known to have negative axillary nodes, no recurrence has been reported to date. CONCLUSIONS: The number of genetic abnormalities that accumulate in individual cells in primary breast cancers reflects the degree of advancement of a tumor in its genetic evolutionary sequence, and provides useful clinical prognostic information. Because follow-up duration is still relatively short, and because disease in node-negative patients tends to recur later than in node-positive patients, it is still too early to know if three measurements per cell will be sufficient to improve prognosis in node-negative disease.

Breast Neoplasms↗
PubMed2005

Isochromosome 20p associated with multiple congenital abnormalities.

A second case of tetrasomy 20p due to an additional isochromosome 20p is reported. This resulted in a spontaneous intrauterine death with multiple congenital abnormalities. In keeping with the previous report, the foetus had poor ossification resulting in multiple long bone fractures.

Chromosome Aberrations↗
PubMed1999

Cytogenetic abnormalities in multiple myeloma.

There is an increasing understanding that chromosomal abnormalities play a major role in the pathogenesis of multiple myeloma. Furthermore, they seem to predict the clinical outcome of patients according to the specific abnormalities detected. It is likely that in the future, knowledge of the cytogenetic composition will be an integral part of the evaluation of myeloma patients.

Chromosome Aberrations↗
PubMed1984

Visual abnormalities with multiple trauma.

The diversity of pathogenetic mechanisms involved in posttraumatic visual impairment was reviewed in a study of the hospital records of 24 patients admitted with multiple injuries. Most major visual abnormalities occurred in young people (average age 33 years) who presented with a wide range of overall severity of injury (injury severity score 13-47) and involvement of the central nervous system (Glasgow coma scale 5-15). Bilateral or monocular blindness developed in 63% of patients. Seventy percent of the injuries involved the anterior visual pathways with damage to the optic nerve alone accounting for 35%. Fractures of the sphenoid bone, particularly of the body, accompanied optic nerve and chiasmal injuries and some cases of traumatic carotid-cavernous fistulas. Pathogenetic mechanisms varied according to the site of injury and included vitreous hemorrhage and optic atrophy secondary to raised intracranial pressure, retinal hypoxia from carotid-cavernous fistulas, shearing and compression injuries of the optic nerve, traumatic chiasmal syndrome, temporoparietal and occipital contusions, and transtentorial herniation with occipital infarction. Visual abnormalities varied in severity from moderately reduced visual acuity and diverse hemianopias and scotomas to blindness. The incidence of posttraumatic residual visual abnormalities is likely to increase in the wake of improved acute care of the traumatized victim.

Adolescent↗
PubMed1995

MR of the brain in mitochondrial myopathy.

PURPOSE: To determine the spectrum of MR findings in patients with mitochondrial myopathy and correlate them with central nervous system symptoms and signs. METHODS: We performed a prospective evaluation of the MR findings of eight patients with mitochondrial myopathy (three with Kearns-Sayre syndrome and five with chronic progressive external ophthalmoplegia), six of whom had central nervous system symptoms or signs (ataxia, sensorineural hearing loss, or cognitive dysfunction). RESULTS: All six patients with neurologic symptoms or signs had multiple abnormal MR findings, whereas patients without neurologic symptoms had either normal MR findings (one patient) or the solitary finding of cortical atrophy (one patient). Abnormal MR findings consisted of cerebral cortical atrophy (seven patients), cerebellar atrophy (six patients), and hyperintense signal abnormalities on T2-weighted images within the cerebral white matter (three patients), cerebellar white matter (one patient), basal ganglia (three patients), brain stem (one patient), and thalamus (one patient). In two patients, the cerebral white matter signal abnormalities were primarily peripheral and involved the arcuate fibers. All patients with ataxia had abnormal cerebellar findings on MR imaging, but there was poor correlation between other neurologic features and MR findings. CONCLUSIONS: Cerebral and cerebellar atrophy are the most common MR findings in Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. White matter and deep gray nuclei abnormalities, presumed to result from the diffuse spongiform encephalopathy reported in these patients, can also be seen. Patients with abnormal neurologic findings typically have multiple abnormalities on MR imaging, which frequently do not correlate with specific symptoms.

Adult↗
PubMed1998

Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait.

Separation of chromatids of all mitotic chromosomes, here called total premature chromatid separation (total PCS), was observed in 67 to 87.5% of repeated cultures of peripheral blood lymphocytes from two unrelated infants. Also noted was a variety of mosaic aneuploidies, especially trisomies, double trisomies, and monosomies, to be called mosaic variegated aneuploidy. The infants both showed severe pre- and postnatal growth retardation, profound developmental retardation, uncontrollable seizures, severe microcephaly, hypoplasia of the brain, Dandy-Walker anomaly, abnormal facial appearance, and bilateral cataract. Patient 1, a girl, in addition had a cleft palate, multiple renal cysts, and Wilms tumor of the left kidney. Whereas patient 2, a boy, had ambiguous external genitalia. They both died within 2 years of age. In the two families of the infants, their parents and three other members showed 2.5 to 47% lymphocytes with total PCS but without mosaic variegated aneuploidy or phenotypic abnormalities. Another 10 relatives studied showed 0 to 1% cells with total PCS and so were judged negative for the total PCS trait. It was deduced that the total PCS trait in the two families was transmitted in an autosomal-dominant fashion, and the two affected infants were homozygous for the trait.

Abnormalities, Multiple↗
PubMed2005

Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains mitotic integrity.

Elevated expression of receptor for hyaluronan-mediated motility (RHAMM) within ex vivo diagnostic multiple myeloma plasma cells predicts for aggressive disease and patient survival. Here, we investigate the relationship between RHAMM and centrosomal abnormalities within multiple myeloma patient samples. We report that myeloma patient samples contain pervasive structural and numerical centrosomal abnormalities. Structural, but not numerical, centrosomal abnormalities strongly correlate with elevated RHAMM expression. As others have shown that excess pericentriolar material strongly associates with abnormal mitoses, we modeled centrosomal abnormalities with exogenous RHAMM overexpression. RHAMM overexpression in vitro resulted in centrosomal and mitotic defects. To elucidate a mechanism for RHAMM-mediated spindle defects, we further investigated RHAMM mitotic function. RHAMM mitotic localization mirrors that of targeting protein for Xklp2 (TPX2), and RHAMM interacts with the spindle assembly factors dynein and TPX2. Like TPX2, RHAMM expression is up-regulated during mitosis. Moreover, inhibition of function experiments reveals that RHAMM and TPX2 functions converge to maintain spindle integrity after spindle assembly. We postulate that augmentation of RHAMM expression within human cancers, including myeloma, can directly affect centrosomal structure and spindle integrity and potentially modulate apoptotic and cell cycle progression pathways.

Cell Cycle↗
PubMed1977

Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.

A ring chromosome 8 was found in peripheral blood cells in a boy, whose chromosomes were studied because of multiple congenital anomalies. Examination of skin cells revealed a 46,XY/46,XY,8r pattern. Application of several banding techniques suggested a duplication of the most distal bands of both arms in the ring. The terminal end of 8q appeared to have been retained as could be shown by R-banding. The anaesthesia and surgery the mother underwent in the first month of her pregnancy is considered as a possible cause of the chromosome abnormality.

Abnormalities, Multiple↗
PubMed2026

Novel biallelic FSIP2 variants cause male infertility with multiple morphological abnormalities of sperm flagella in humans.

Biallelic variants in fibrous sheath-interacting protein 2 ( FSIP2 ) gene are a known cause of multiple morphological abnormalities of the sperm flagella (MMAF). This study aimed to identify novel FSIP2 variants and evaluate their impact on sperm ultrastructure and intracytoplasmic sperm injection (ICSI) outcomes. Whole-exome sequencing (WES) was employed to screen a cohort of 92 MMAF patients, with candidate variants validated via Sanger sequencing and third-generation sequencing. We identified one homozygous variant in a proband from a consanguineous family and two pairs of compound heterozygous variants in two unrelated, non-consanguineous families. Routine semen analysis demonstrated markedly reduced motility across all probands. Detailed morphological and ultrastructural assessments using Papanicolaou staining, scanning electron microscopy (SEM), and transmission electron microscopy (TEM) demonstrated that approximately 80.0% of spermatozoa exhibited pathological elongation of the mitochondrial sheath in the midpiece. Furthermore, 50.0%-70.0% of spermatozoa displayed fibrous sheath dysplasia or loss in the principal piece. Immunofluorescence assays and Western blotting confirmed that FSIP2 protein localization was disrupted, and the expression of key axonemal assembly factors was dysregulated. Notably, successful pregnancies were achieved via ICSI in the partners of two probands. This study expands the mutational spectrum of FSIP2 in both consanguineous and non-consanguineous populations. Ultrastructural abnormalities, such as mitochondrial sheath elongation and fibrous sheath disassembly, highlight FSIP2 's critical role in flagellar assembly. Clinical results further support ICSI as an effective therapeutic intervention for affected individuals.

Humans↗
PubMed2001

Grey matter abnormalities in multiple sclerosis: proton magnetic resonance spectroscopic imaging.

Pathologically defined abnormalities in the cortical gray matter (GM) are well described in multiple sclerosis (MS) but are infrequently seen by conventional magnetic resonance imaging (MRI). We systematically evaluated 52 relapsing-remitting MS patients and 20 normal volunteers with high resolution MRI and short echo proton magnetic resonance spectroscopic imaging (MRSI). Individual tissue contributions to the spectroscopic voxels were estimated based on MRI that incorporated both CSF suppression and magnetization transfer, or double inversion images in which both CSF and GM were suppressed. Strong resonances in the 0.8 to 1.5 p.p.m. spectral region were observed in 13 MS patients. Image segmentation based on the MRI characteristics of tissues contributing to the spectroscopic voxels showed that these additional peaks originated mainly from GM. The presence of these additional peaks suggests that the normal appearance GM on MRI, is biochemically abnormal in a substantial proportion of relapsing-remitting MS patients.

Adult↗
PubMed2003

IgM myeloma and Waldenstrom's macroglobulinemia: a distinct clinical feature, histology, immunophenotype, and chromosomal abnormality.

Multiple myeloma represents a malignant proliferation of plasma cells derived from a single clone within the bone marrow. While the cause of myeloma is not known, interleukin 6 may play a role in driving myeloma cell proliferation. Waldenstrom's macroglobulinemia (WM) is a proliferative disease of B-lymphocytes. The cells have lymphoplasmacytoid features and secrete IgM. It is important to distinguish between IgM myeloma and WM as they have distinct clinical courses and prognoses, and treatment strategies are therefore different. The clinical characteristics of a patient diagnosed with IgM myeloma, and his excellent response to treatment are reported here.

Chromosome Aberrations↗