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PubMed1982

Early scintographic diagnosis of bone stress and fractures in athletic adolescents.

A study of radionuclide bone scintigraphy in adolescents was conducted to evaluate the pattern of stress-related abnormalities and their correlation with both symptoms and roentgenography. In 26 episodes of stress-related abnormal scintigraphy, 12 (46%) had a multifocal pattern of abnormalities. Forty foci were identified by scintigraphy, with 11 (28%) exhibiting abnormal roentgenograms. These multiple abnormalities were frequently unsuspected clinically, and studies limited to symptomatic areas would have failed to detect them. It is recommended that patients with stress-related symptoms be screened utilizing radionuclide bone scintigraphy to facilitate the early detection of abnormalities in bone prior to the development of cortical disruption, thereby preventing increased morbidity and possible disabling sequelae.

Adolescent↗
PubMed1993

N-ras mutations are associated with poor prognosis and increased risk of leukemia in myelodysplastic syndrome.

To evaluate the clinical significance of N-ras mutations in the myelodysplastic syndrome (MDS) archival bone marrow samples from 252 patients were studied for the presence of N-ras exon I mutations using polymerase chain reaction amplification and differential oligonucleotide hybridization. Subsequently, clinical information about these patients was obtained and analyzed. Of 220 evaluable patients, 20 (9%) had point mutation of N-ras involving codon 12. Individuals with N-ras mutation had a significantly shorter survival period than those who were N-ras negative (P = .02). An increased risk of acute myelogenous leukemia (AML) was also found in patients with N-ras mutations (P = .005). N-ras mutations were not associated with any French-American-British (FAB) subtype, with the presence of increased myeloblasts, or with chromosomal aberrations in the bone marrow. However, the presence of increased bone marrow blasts was strongly associated with poor survival rate and risk of AML (P < .001 for each). After stratifying for the percentage of blasts, N-ras mutations remained significantly associated with shorter survival period (P = .04) and increased risk of AML (P = .02). Bone marrow cytogenetic abnormalities, particularly when multiple abnormalities were present, were significantly associated with a poor prognosis (P < .001). In conclusion, N-ras mutation, although relatively infrequent in MDS, is associated with short survival period and increased probability of developing AML.

Bone Marrow↗
PubMed1998

Multiple electrolyte abnormalities after pamidronate administration.

Pamidronate constitutes a major advance in the treatment of tumor-associated hypercalcemia. However, transient electrolyte abnormalities have been reported after pamidronate administration. We describe here a patient with multiple myeloma and severe hypercalcemia who developed transient but significant electrolyte disturbances (mainly hypophosphatemia and hypomagnesemia) after a single dose of 90 mg of pamidronate, focusing on the underlying pathophysiological mechanisms.

Antineoplastic Agents↗
PubMed2003

Neurologic aspects of 49,XXXXY syndrome.

49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects, and genital abnormalities. We describe a 13-year-old boy with 49,XXXXY syndrome, language impairment, seizures, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder. Finally, we discuss testosterone supplementation in the treatment of this syndrome.

Abnormalities, Multiple↗
PubMed1995

Transgenic expression of IFN-gamma in the murine lens results in multiple ocular abnormalities and an early but self-limited inflammatory response.

The anterior chamber of the eye is known to be an immune privileged site, due to both local and systemic effects on the immune response. Injection of IFN-gamma into the anterior chamber (AC) overcomes the suppression of antigen-specific delayed hypersensitivity responses normally seen in the eye. Transgenic mice expressing increased IFN-gamma in the lens under the alpha A-crystallin promoter were produced to determine whether the proinflammatory effects of IFN-gamma would abolish immune privilege and promote loss of tolerance as has been seen in non-immune privileged tissues. Two alpha C/IFN-gamma transgenic lines are described which demonstrate multiple ocular and lenticular abnormalities some of which are developmental in origin and others that may be secondary to the inflammatory effects of IFN-gamma. A significant inflammatory cell infiltrate which is observed in the AC and vitreous from birth to 4 weeks of age, consists initially of macrophage and polymorphonuclear leukocytes and then CD4+ T lymphocytes. However, the infiltrate is essentially resolved by 6 weeks of age. Therefore, although lens-specific expression of IFN-gamma results in early loss of immune privilege, chronic uveitis does not occur probably due to the lack of continued IFN-gamma expression.

Animals↗
PubMed2006

Molecular diagnosis of a BRAF papillary thyroid carcinoma with multiple chromosome abnormalities and rare adrenal and hypothalamic metastases.

OBJECTIVE: Molecular characterization of thyroid tumors is rarely applied to patient management. Our aim was to demonstrate the application of molecular and cell biology to patient care. DESIGN: Clinical and molecular case study. MAIN OUTCOMES: A 57-year-old man with papillary thyroid carcinoma presented with adrenal and several other presumed metastases, pulmonary nodules, and mediastinal lymphadenopathy. Bronchial carcinoma was entertained for the pulmonary lesions because of a tobacco history. Mediastinal lymph node biopsy was nondiagnostic. Cells from the biopsy were grown in tissue culture and characterized by immunocytochemical (ICC), allele-specific polymerase chain reaction (PCR), reverse transcription (RT)-PCR, DNA sequencing, and cytogenetics. A panel of agents were tested the cells for tumoricidal activity. The cells expressed thyroid-specific markers [thyroid-stimulating hormone receptor (TSH-R), thyroglobulin (TG), sodium iodide symporter (NIS)] and markers [thyroid transcription factor-1 (TTF-1), cytokeratin-7, epidermal growth factor receptor (EGF-R)] present in the primary tumor and adrenal metastasis. The BRAF V600E mutation was detected. The karyotype was 44-48,XY, + der(1) t(1;9)(p13;p13),add(9)(p13),-17,-18, + 0-3mar[cp20]. Lovastatin, gefitinib, paclitaxel, depsipeptide, and 17-AAG inhibited the growth of the cultured cells. Combinations of two or three drugs produced additive or synergistic effects depending upon the combination. CONCLUSIONS: Unusual metastases may be associated with multiple molecular and cytogenetic abnormalities. Thus, molecular and cell-biological studies can allow otherwise difficult thyroid tumor diagnosis and may be used for targeted, individualized selection of potential treatments.

Adrenal Gland Neoplasms↗
PubMed1988

Multiple karyotypic abnormalities, including structural rearrangements of 11p, in cell lines from malignant melanomas.

Cell lines were obtained from three malignant melanoma patients by culturing cell suspensions from tumor biopsies. A total of six lines (I to VI) were established. One line each was established from the first two cases. Lines III and IV were established from two different methyl cellulose colonies derived from the primary tumor of case 3; line III was from a non-pigmented and line IV from a pigmented colony. Cloning of line IV resulted in two highly malignant (IV Cl 1 and IV Cl 3) and one less malignant (IV Cl 2) clone. Clone IV Cl 1 was inoculated intracardially in nude mice and gave rise to adrenal and brain metastases. Lines V and VI were derived from such metastases. Multiple structural and/or numerical chromosome abnormalities were detected in all lines. Line I had 57-61 chromosomes, with structural changes affecting 1p, 2p, 3q, 7p, 7q, 11p, 14q, 17q, and 22q, as well as one unidentified marker. Line II had 40-48 chromosomes, with structural changes of 1p, 1q, 4q, 5p, 6p, 8p, 11p, 11q, 14p, 20p, and two unidentified markers. Line III had 45 chromosomes, 6q+, del(11p), and a centric fusion between chromosomes 14 and 15. Line IV had 45-46 chromosomes. The clonal changes included rearrangements of 1p, 9p, 11p, and the centric fusion of chromosomes 14 and 15. Line V was pseudodiploid and contained aberrations of 1p, 9p, 11p, 14q, 20q, an isochromosome for 21q, and an unidentified marker. Finally, the pseudodiploid line VI had changes of 9p, 11p, centric fusion of chromosomes 14 and 15, and an unidentified marker. Although no single identical aberration was shared by all six lines, structural abnormalities of 11p were invariably present and, hence, might constitute a common cytogenetic feature in melanoma development. The most consistent difference between the amelanotic and melanotic lines derived from case 3 was the presence of a 6q+ marker in the former and a 9p+ marker in the latter.

Chromosome Aberrations↗
PubMed2003

Risk of congenital abnormalities in children born to women with ulcerative colitis: a population-based, case-control study.

OBJECTIVES: It has recently been suggested that maternal ulcerative colitis is associated with an almost 4-fold increased risk of congenital abnormalities in offspring. We therefore examined the risk of congenital abnormalities in children born to women with ulcerative colitis. METHODS: This was a case-control study within the Hungarian Case Control Surveillance of Congenital Abnormalities, 1980-1996, based on 22,843 newborn children or fetuses with congenital abnormalities and 38,151 children without any detected congenital abnormalities (the control group). RESULTS: Seventy-one pregnant women (0.3%) had ulcerative colitis in the case group and 95 (0.2%) in the control group. The adjusted overall risk for having a child with congenital abnormalities in women with ulcerative colitis was OR = 1.3 (95% CI = 0.9-1.8). The risk of limb deficiencies, obstructive urinary congenital abnormalities, and multiple congenital abnormalities was OR = 6.2 (95% CI = 2.9-13.1), OR = 3.3 (95% CI = 1.1-9.5), and OR = 2.6 (95% CI = 1.3-5.4), respectively. No association was found for cleft lip with or without cleft palate or cardiovascular defects. CONCLUSIONS: We found no significantly increased overall risk of congenital abnormalities in children born to women with ulcerative colitis. However, our results indicate an increased risk of some selected congenital abnormalities (limb deficiencies, obstructive urinary congenital abnormalities, and multiple congenital abnormalities). More data are needed to determine whether the association between maternal ulcerative colitis and an increased risk of certain congenital abnormalities is causal or is influenced by bias.

Abnormalities, Multiple↗
PubMed1984

A case of pseudohypoparathyroidism (PHP) associated with multiple hormonal abnormalities.

A case of pseudohypoparathyroidism (PHP) associated with several hormonal abnormalities in addition to parathyroid hormone (PTH) was reported. Several endocrinological examinations before and after treatment with 1 alpha-OH-D3 revealed abnormal thyroid stimulating hormone and prolactin responses to thyrotropin releasing hormone, abnormal plasma renin activity responses to renin stimulation test, and abnormal calcitonin responses to calcium infusion test. These abnormalities were not corrected when serum calcium levels returned to normal after therapy. From these results, it was suggested that in PHP resistance to multiple hormones that worked by stimulating adenylate cyclase might be the cause of these hormonal abnormalities, irrespective of serum calcium levels.

Adult↗
PubMed2000

Multiple endocrine abnormalities in a child with Blackfan-Diamond anemia and hemochromatosis. Significant improvement of growth velocity and predicted adult height following growth hormone treatment despite liver damage.

We evaluated a short, prepubertal 13.9 year-old boy with Blackfan-Diamond anemia and significant liver iron stores due to multiple blood transfusions and found him to have several endocrine abnormalities, including hypothyroidism, hypoparathyroidism, primary and secondary hypogonadism and IGF-I insufficiency. Growth velocity was poor despite treatment with levothyroxine, calcitriol, calcium and aggressive therapy with chelating agents. After 25 months of treatment with rhGH his growth velocity, height for age and PAH increased significantly, suggesting a degree of sensitivity to GH despite his liver damage.

Adolescent↗
PubMed2003

Gene abnormalities in multiple myeloma; the relevance of TP53, MDM2, and CDKN2A.

BACKGROUND AND OBJECTIVES: Disruption of either the p14ARF- mdm2- p53 or p16INK4A- Rb1 pathways produces a breakdown of regulatory mechanisms and creates a gateway for tumorigenesis. Since the incidence and clinical implications of abnormalities of TP53, CDKN2A (encoding for p16 and p14) and MDM2 genes (chromosome 12) in multiple myeloma (MM) is not clear, we investigated allelic loss at the former two loci and gain at the latter locus in a series of 82 MM patients. DESIGN AND METHODS: Dual color fluorescence in situ hybridization (FISH) was applied to bone marrow samples to establish the incidence of changes at the above mentioned loci. The CDKN2A locus was tested using a probe which hybridizes to 9p21 and also targets the p15INK4B gene. RESULTS: FISH analysis revealed the presence of monoallelic TP53 deletions in 12% of patients. Ten percent of patients had hemizygous deletion at 9p21, while a further 8% had loss of 1 of 3 loci in the presence of trisomy 9. MDM2 amplification in the face of chromosome 12 diploidy was seen in 8%, while another 8% had trisomy 12 with an equivalent increase in signals for MDM2. Clinical correlations revealed that allelic loss of TP53 was the only factor associated with resistance to chemotherapy. The presence of 9p21 deletion was associated with an IgA isotype but none of the abnormalities had a significant influence on overall or event-free survival. INTERPRETATIONS AND CONCLUSIONS: P53 and CDKN2A (9p21) allelic loss and amplifications of the MDM2 gene are infrequent events in myeloma. The incidence of the latter two events was, however, higher than previously reported. Deletion of the TP53 gene predicted resistance to chemotherapy, highlighting its importance in this disease process.

Adult↗
PubMedDate not supplied

Chromosome 1 abnormalities in multiple myeloma.

Multiple myeloma (MM) is a malignancy of the terminally-differentiated B cells and accounts for 10% of all hematological malignancies. Chromosome 1 aberrations are frequently described, the short arm being preferentially involved in deletions and the long arm in gains. The abnormalities were identified in the bone marrow of 37 MM patients by conventional cytogenetics. Fluorescence in situ hybridization (FISH) was used to confirm the presence of the abnormalities and to better characterize them. Chromosome 1 abnormalities were grouped into 4 categories: balanced translocations, deletions, amplifications and jumping translocations (JT). Breakpoints involved in balanced translocations were randomly distributed. The smallest region of overlap for deletions was 1p11 --> 1p21 (present in 27% of the patients) and for gains 1q31 --> 1qter (present in 54% of the patients). The whole long arm was found to be the donor segment for the majority of patients with JT, the most frequent recipients being chromosomes 16 and 19. Our results share some similarities with those obtained for 143 published patients studied by FISH. Band 1p21 was found to be frequently deleted, leading to the assumption that a 1p deletion could lead to hemizygosity of at least 1 tumor suppressor gene. Two regions of 1q showed preferential gains: q12 to q22 and q31 to q42; these amplifications could induce the overexpression of 1 or more oncogenes. In conclusion, our results confirm that chromosome 1 abnormalities play an important role in the pathogenesis of multiple myeloma.

Chromosome Aberrations↗
PubMed1987

The relevance of contralateral recordings and patient disability to assessment of brain-stem auditory evoked potential abnormalities in multiple sclerosis.

Brain-stem auditory evoked responses (BAER) were recorded in a group of 83 patients with a diagnosis of clinically definite or probable multiple sclerosis to assess the relevance of recording contralateral responses simultaneously with ipsilateral responses and to correlate patients disability with the detection of abnormalities. The contralateral responses generally mirrored the ipsilateral responses, but in seven patients the responses differed, mainly involving the presence or absence of wave V. However, contralateral recordings did not contribute significantly to the sensitivity of lesion detection, and their main value was to aid in the recognition of waves when they were not clearly seen in the ipsilateral recordings. The BAER abnormality rates were found to be significantly correlated with disability, and it is suggested that this is an important variable to consider when undertaking or comparing results of BAER studies in patients with multiple sclerosis.

Adolescent↗
PubMed1999

Accuracy of the EASI 12-lead electrocardiogram compared to the standard 12-lead electrocardiogram for diagnosing multiple cardiac abnormalities.

This study was performed to compare a derived 12-lead electrocardiogram (ECG) using a simple 5-electrode lead configuration (EASI 12-lead) with the standard ECG for multiple cardiac diagnoses. Accurate diagnosis of arrhythmias and ischemia often require analysis of multiple (ideally, 12) ECG leads; however, continuous 12-lead monitoring is impractical in hospital settings. EASI and standard ECGs were compared in 540 patients, 426 of whom also had continuous 12-lead ST segment monitoring with both lead methods. Independent standards relative to a correct diagnosis were used whenever possible, for example, echocardiographic data for chamber enlargement-hypertrophy, and troponin levels for acute infarction. Percent agreement between the 2 methods were: cardiac rhythm, 100%; chamber enlargement-hypertrophy, 84%-99%; right and left bundle branch block, 95% and 97%, respectively; left anterior and posterior fascicular block, 97% and 99%, respectively; prior anterior and inferior infarction, 95% and 92%, respectively. There was very little variation between the 2 lead methods in cardiac interval measurements; however, there was more variation in P, QRS, and T-wave axes. Of the 426 patients with ST monitoring, 138 patients had a total of 238 ST events (26, acute infarction; 62, angioplasty-induced ischemia; 150, spontaneous transient ischemia). There was 100% agreement between the 2 methods for acute infarction, 95% agreement for angioplasty-induced ischemia, and 89% agreement for transient ischemia. EASI and standard 12-lead ECGs are comparable for multiple cardiac diagnoses; however, serial ECG changes (eg, T-wave changes) should be assessed using one consistent 12-lead method.

Aged↗
PubMed2000

Cardiac repolarization abnormalities in multiple sclerosis: spinal cord MRI correlates.

Ventricular repolarization dysfunction has recently been reported in multiple sclerosis (MS). We evaluated ventricular repolarization dysfunction in 52 MS patients and looked for a relationship between corrected QT (QTc) abnormalities (i.e., abnormalities of QT intervals corrected for rate) and spinal cord magnetic resonance imaging (MRI) findings. QTc intervals were increased in MS patients compared with controls (P < 0.01) and were correlated with a reduction of spinal cord area (P < 0.01). QTc abnormalities in MS were thus associated with axonal loss, reflected by spinal cord atrophy, rather than demyelination.

Adult↗
PubMed1998

Multiple hemostatic abnormalities in young adults with activated protein C resistance and cerebral ischemia.

BACKGROUND: The relationship between activated protein C resistance (APCR) and arterial stroke is uncertain. It has been speculated that multiple inherited or acquired prothrombotic conditions may alter the hemostatic balance towards thrombotic events. METHODS: Case series from a University medical center. RESULTS: In a series of 28 Caucasian patients under age 55 with cerebral ischemic events, nine were found to have activated protein C resistance. Five of nine patients (56%) had additional hematologic abnormalities. Four patients had elevated anticardiolipin IgG antibodies. Other abnormalities identified included Type I protein S deficiency, sticky platelet syndrome, and a positive lupus anticoagulant. CONCLUSIONS: Activated protein C resistance is relatively common in young adults with cerebral ischemic events and may be accompanied by other hematologic abnormalities. The constellation of hemostatic abnormalities may impact the type of and intensity of the antithrombotic regimen. There are also implications for family members of affected patients. Finding evidence of APCR should not preclude a complete hemostatic evaluation in the young stroke patient.

Activated Protein C Resistance↗
PubMed1998

Screening for fetal abnormalities in multiple pregnancies.

Multiple gestations account for 1-2% of all pregnancies but contribute disproportionately to the incidence of both perinatal loss and fetal structural abnormalities. Ultrasound examination provides essential information about screening for, and the management of, such defects, including accurate determination of chorionicity, assessment of risk, invasive testing and selective termination if appropriate.

Chorion↗