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PubMed2004

Fluorescence in situ hybridization detection of cytogenetic abnormalities in B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma.

Routine cytogenetic analysis of B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (B-CLL/SLL) frequently fails to identify an abnormal clone due to the low rate of spontaneous mitoses and poor response to mitogen stimulation. Recent studies utilizing interphase fluorescence in situ hybridization (FISH) suggest that prognostically significant chromosomal abnormalities occur more frequently in B-CLL/SLL than has been previously recognized. The purpose of this study was to compare the chromosomal abnormalities detected by karyotyping and FISH in cases of B-CLL/SLL, and to correlate these with clinical features and survival. Seventy-two cases were studied for chromosome 3, 12 or 18 aneuploidy, and for rearrangements involving 11q13, 11q23, 13q14, 14q32 and 17p13. The median age of the patients was 54 years (range, 30-87 years). Clinical staging of B-CLL patients showed that 70% of the patients were Rai stage 0, 1, or 2, and 30% stage 3 or 4. Karyotyping identified chromosomal abnormalities in 31% of the cases, whereas FISH studies were abnormal in 72% of cases including 64% of the cases with normal karyotypes. The most common abnormalities were deletion 13q14 (46%), trisomy 12 (21%), and 14q32 rearrangements (21%). At diagnosis, patients with trisomy 12 were more likely to have a high LDH (P = 0.04), but no other significant differences in the clinical or laboratory features, Rai stage, or survival were found among patients with normal cytogenetics vs. those with chromosomal abnormalities. Univariate analysis showed that B-symptoms (P = 0.044), anemia (P = 0.0006), absolute lymphocytosis > or = 30,000/mm3 (P = 0.029), and Rai stage 3 or 4 (P = 0.0038) at initial presentation were associated with an increased risk of death, but only Rai stage 3 or 4 (P = 0.0038) was significant in multivariate analysis. Interphase FISH studies improve the cytogenetic diagnosis when performed in conjunction with karyotyping in B-CLL/SLL, but the prognostic relevance of various abnormalities could not be confirmed in this study.

Adult↗
PubMed2006

Effects of HIV infection and its treatment on self-reported menstrual abnormalities in women.

OBJECTIVE: To describe menstrual abnormalities among women with HIV. METHODS: Women in a multicenter prospective cohort study of HIV natural history reported menstrual abnormalities every 6-months between October 1994 and September 2002. Logistic regression and Cox proportional-hazards models were applied. RESULTS: The prevalence and incidence of menstrual abnormalities were <20%. HIV serostatus was not associated with prevalent menstrual abnormalities, but in HIV-seropositive women, higher CD4 counts were associated with fewer problems: compared with women with CD4 counts <200/mm3, in women with counts 200-500/mm3, odds ratio (OR) for amenorrhea was 0.55, p = 0.02, and for oligomenorrhea was 0.54, p = 0.0003; for women with counts >500/mm3, OR for amenorrhea was 0.67, p = 0.14, and for oligomenorrhea was 0.55, p = 0.001. HIV serostatus was not associated with incident abnormalities. Highly active anti-retroviral therapy (HAART) use was not associated with prevalent abnormalities, but both HAART use and higher CD4 counts were linked to lower rates of incident menstrual problems. CONCLUSIONS: Compared with seronegative women, HIV-seropositive women are at increased risk for some menstrual changes, although the absolute frequency of most abnormalities is low. Higher CD4 counts and HAART protect against incident abnormalities.

Adult↗
PubMed1997

Isolated 13q14 abnormalities and normal karyotypes are associated with typical lymphocyte morphology in B-cell chronic lymphocytic leukemia.

Peripheral blood lymphocyte morphology and karyotype were correlated across the spectrum of cytogenetic abnormalities in 78 previously karyotyped cases of B-cell chronic lymphocytic leukemia (CLL). Cases were classified according to French-American-British morphologic criteria as typical CLL or CLL, mixed-cell type; the latter category was divided into CLL with a mixture of small and large cells and CLL with increased prolymphocytes (CLL/PL). Other leukemic lymphoproliferative disorders were excluded from this analysis. CLL cases with normal karyotypes were more likely to demonstrate typical morphology than those with clonal abnormalities (P = .042). In addition, all six cases containing isolated 13q14 abnormalities had typical morphology, compared with six of 16 other isolated abnormalities (P = .009), including one of seven cases of isolated trisomy 12. In contrast with the cases of isolated 13q14 changes, only seven of 17 cases with 13q14 as part of complex abnormalities had typical morphology (P = .012). Trisomy 12 was associated with mixed-cell morphology, particularly CLL/PL, consistent with previous reports. We conclude that isolated 13q14 abnormalities and normal karyotype are associated with typical CLL morphology, while other clonal abnormalities, including trisomy 12, are associated with mixed-cell morphology. These results further support the concept of distinct CLL subgroups based on karyotype. Furthermore, the association of trisomy 12 and complex abnormalities with mixed-cell morphology may have implications for clonal evolution in CLL.

Aged↗
PubMed1987

Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications.

Because of occasional reports of exudative retinal detachment with facioscapulohumeral muscular dystrophy (FSH) and deafness, we sought to determine by fluorescein angiography whether there is any general relationship between FSH muscular dystrophy and retinal vascular disease. Peripheral retinal capillary abnormalities, comprising telangiectasis, closure, leakage and microaneurysm formation, were demonstrated by angiography in 56 out of 75 individuals with clinical or genetic evidence of FSH. Only 3 patients had relevant ophthalmoscopic abnormalities of the posterior pole and in only 1 was there consequent visual loss. This study included one FSH family in which the propositus was treated for exudative retinopathy and 13 other subjects had telangiectasis, and 8 cases (including 3 parents of apparently 'sporadic' FSH cases) in which fluorescein angiography confirmed the abnormal genotype, even though clinical examination of skeletal muscle revealed no clear abnormality. There was no correlation between the severity of the muscle disease and the extent of the retinal vascular abnormality. Visual complications of telangiectasis, although rare, may present early in life and before there is overt evidence of muscle disease. Since visual loss may be preventable, ophthalmic examination should be undertaken on infants at risk of having the abnormal gene. The findings support the hypothesis that retinal capillary abnormalities are an integral part of the FSH muscular dystrophy syndrome and raise the question as to whether analogous capillary abnormalities could be implicated in the pathogenesis of FSH muscle disease.

Adolescent↗
PubMed1999

Multiple clonal abnormalities in the bronchial epithelium of patients with lung cancer.

BACKGROUND: Several molecular changes, including loss of heterozygosity (i.e., deletion of one copy of allelic DNA sequences) and alterations in microsatellite DNA, have been detected early in the pathogenesis of lung cancer, even in histologically normal epithelium. In the bronchial epithelium of patients with lung cancer, we have determined the frequency, size, and patterns of molecularly abnormal clonal patches. METHODS: We studied formalin-fixed, paraffin-embedded samples from 16 surgically resected lung carcinomas (five squamous cell carcinomas, four small-cell carcinomas, six adenocarcinomas, and one large-cell carcinoma). From each carcinoma, we microdissected foci (each containing about 200 cells) of tumor tissue and equivalent samples of histologically normal and abnormal epithelium. Furthermore, multiple discontinuous foci of bronchial epithelium were analyzed from methanol-fixed samples from three additional patients with lung cancer (two with squamous cell carcinoma and one with adenocarcinoma). We used two-step polymerase chain reaction-based assays involving 12 microsatellite markers at seven chromosomal regions frequently deleted in lung cancer. RESULTS: Two hundred eighteen foci of nonmalignant bronchial epithelium (195 of histologically normal or slightly abnormal epithelium and 23 of dysplastic epithelium) were studied from the 19 surgically resected lobectomy specimens. Thirteen (68%) of the 19 specimens had at least one focus of bronchial epithelium with molecular changes. At least one molecular abnormality was detected in 32% of the 195 histologically normal or slightly abnormal foci and in 52% of the 23 dysplastic foci. Extrapolating from our two-dimensional analyses, we estimate that most clonal patches contain approximately 90 000 cells. Although, in a given individual, tumors appeared homogeneous with respect to molecular changes, the clonally altered patches of mildly abnormal epithelium were heterogeneous. CONCLUSIONS: Our findings indicate that multiple small clonal or subclonal patches containing molecular abnormalities are present in normal or slightly abnormal bronchial epithelium of patients with lung cancer.

Adenocarcinoma↗
PubMed1994

The predictive value of electrocardiographic abnormalities for total and cardiovascular disease mortality in men and women.

The relationship between ECG abnormalities and mortality was studied in 4797 males and 4320 females aged 25 to 74 years who took part in the Belgian Inter-university Research on Nutrition and Health (The BIRNH study). At entry all were free of angina, had no history of acute myocardial infarction and showed no evidence of an old infarction on their baseline ECG. They were followed for an average of 5.6 years, and follow-up for vital status was completed satisfactorily in 99.5%. ECG abnormalities were grouped using several classifications: any abnormality, major and minor abnormalities, ischaemic changes, left ventricular hypertrophy and the separate Minnesota codes IV (ST depression), V (abnormal T-wave) and VIII (arrhythmias). Using logistic regression analysis, adjustment of odds ratios for cardiovascular disease (CVD) mortality was done for age, systolic blood pressure, serum total cholesterol and uric acid, diabetes, smoking and antihypertensive drug treatment. Men outnumbered women more than twice in total and CVD mortality. Multivariate analysis showed that the presence of major abnormalities on the ECG was significantly related to CVD mortality in both men and women (adjusted odds ratios 2.73 and 4.40 respectively). In contrast, minor abnormalities were not independently associated with CVD mortality. In men, ST depression (OR = 5.58), signs of an ischaemic ECG (OR = 3.02) and an abnormal T-wave (OR = 2.58) were independently related to CVD mortality. In women primarily a ST depression (OR = 5.87) and arrhythmias (OR = 4.22) had a significant independent effect on CVD mortality.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1999

Effects of dietary roxarsone supplementation, lighting program, and season on the incidence of leg abnormalities in broiler chickens.

Two 4 x 2 factorial experiments were designed to test the effects of four diets, differing in anticoccidial programs and roxarsone (3-nitro-4-hydroxyphenylarsonic acid) content, and two lighting programs on the incidence of leg abnormalities in 56-d-old male and female broiler chickens. The four diets were: A) basal diet + salinomycin (60.0 g/ton); B) basal diet + salinomycin (60.0 g/ton) + roxarsone (45.4 g/ton); C) basal diet + roxarsone (45.4 g/ton) + live coccidial vaccine; and D) basal diet + live coccidial vaccine. The light treatments were: 1) restricted (R) [18 h light (L): 6 h dark (D)] and 2) standard (S) [23L:1D]. The respective experiments were conducted during winter (Experiment 1, November to January) and summer (Experiment 2, June to August) growing conditions in the southeastern U.S. Light treatment had no significant (P > 0.10) effect on the incidence of leg abnormalities in either experiment. However, in Experiment 1, there was a light treatment by sex interaction; leg abnormalities were greater for males on Treatment R than Treatment S. In Experiment 2, females had a higher incidence of leg abnormalities than males (8.29 vs 4.73%). There was a diet by sex interaction for the incidence of leg abnormalities in Experiment 2; females had a greater incidence of leg abnormalities than males on Treatment A. In both experiments, the incidence was greater with dietary treatments containing roxarsone (P < 0.10). The percentage of leg abnormalities was greater in Experiment 2 than Experiment 1. Leg abnormalities were primarily due to fibrosis of the gastrocnemius tendons and tendon sheaths.

Animal Feed↗
PubMed1997

Clinical correlates of CT abnormality in generalized childhood epilepsy in India.

The CT scan gives valuable insight into the aetiology of epilepsy. Studies done so far in India suggest that the causes are quite different from the West. CT scan has become available in larger cities in India, but is expensive. Information about clinical features that may 'predict' a CT abnormality would be useful to clinicians. The object was to determine which, if any, of 10 clinical features predict a CT abnormality in patients presenting with generalized epilepsy. Consecutive children with generalized epilepsy were enrolled prospectively and clinical features charted. Predetermined clinical variables were compared in those with and without CT abnormality. The setting was a pediatric in-patients and out-patients of a teaching hospital in northern India. One-hundred-and-sixty-two out of 178 consecutive children (age 1 month to 12 years) presenting with generalized epilepsy; ten clinical features viz seizure type, age at onset, number of seizures, duration of epilepsy, family/antecedent history, mental/neurological deficit, abnormal EEG and evidence of tuberculosis, were studied. Univariate analysis taking (1) CT abnormality/no abnormality and (2) ring/disc enhancing lesion/no such lesion on CT as outcomes. An abnormal CT scan was found in 79 (49 percent) patients. There were two high yield groups: (1) younger children with neurological/mental deficits; (2) older children without deficits. When these two groups were combined, odds ratio for CT abnormality was 3.06 (1.4-6.7). The commonest CT abnormality was a ring/disc like enhancing lesion seen in 32 patients. Higher age at onset (> 4 years), absence of mental/neurological deficits, generalized tonic-clonic type of seizures and fewer episodes of seizures at presentation were significantly associated with this finding. In addition to existing indications for CT scan, these results can guide physicians when referring patients for this investigation.

Brain↗
PubMed2001

The prevalence and predictive value of abnormal preoperative laboratory tests in elderly surgical patients.

UNLABELLED: Because data to determine which preoperative laboratory tests are important in elderly surgical patients are limited, we performed a prospective cohort study to evaluate the prevalence and predictive value of abnormal preoperative laboratory tests in consecutive patients > or =70 yr old who were undergoing noncardiac surgery. Patients presenting for surgery requiring only local anesthesia or monitored anesthesia care were excluded. Preoperative risk factors and laboratory test results were measured and evaluated for their association with the occurrence of predefined in-hospital postoperative adverse outcomes. In 544 patients, the prevalence of preoperative electrolytes and platelet count abnormalities (<115 x10(9)/L) was small (0.5%-5%), and abnormal creatinine (>1.5 mg/dL), hemoglobin (<10 g/dL), and glucose (>200 mg/dL) values were 12%, 10%, and 7%, respectively. Univariate predictors for adverse outcome of abnormal sodium and creatinine were not as predictive as ASA classification and surgical risk. By multivariate logistic regression, only ASA classification (>II) (odds ratio [OR], 2.55; 95% confidence interval [CI], 1.56-4.19; P < 0.001) and surgical risk (OR, 3.48; 95% CI, 2.31-5.23; P < 0.001) were significant independent predictors of postoperative adverse outcomes. The prevalence of abnormal preoperative electrolyte values and thrombocytopenia was small and had low predictive values. Although more prevalent, abnormal hemoglobin, creatinine, and glucose values were also not predictive of postoperative adverse outcomes. Routine preoperative testing for hemoglobin, creatinine, glucose, and electrolytes on the basis of age alone may not be indicated in geriatric patients. Rather, selective laboratory testing, as indicated by history and physical examination, which will determine patient's comorbidities and surgical risk, seems to be indicated. IMPLICATIONS: The prevalence of abnormal preoperative electrolyte values and thrombocytopenia was small and had low predictive values. Although more prevalent, abnormal hemoglobin, creatinine, and glucose values were also not predictive of postoperative adverse outcomes. Routine preoperative testing for hemoglobin, creatinine, glucose, and electrolytes on the basis of age alone may not be indicated in geriatric patients. Rather, selective laboratory testing, as indicated by history and physical examination, which will determine patient's comorbidities and surgical risk, seems to be indicated.

Aged↗
PubMed1998

Clinical impact of abnormal gut flora in infants receiving parenteral nutrition.

OBJECTIVE: Illness is associated with the carriage of abnormal flora (aerobic Gram-bacilli except E. coli) in the oropharynx and rectum. The aim of this study was to investigate whether carriage of abnormal flora is associated with increased risk of sepsis and septicemia in surgical newborn infants. METHODS: A 2-year prospective study was carried out on 94 consecutive newborn infants requiring parenteral nutrition (PN) for gastrointestinal abnormalities. Throat and rectal swabs were taken on day 1 of PN and twice weekly. Patients were divided into two groups: abnormal flora (AF; n = 41) and normal flora (NF; n = 53). Sepsis was defined as clinical features of generalized inflammation requiring blood culture. Septicemia was the combination of sepsis and positive blood culture. RESULTS: Among the infants carrying abnormal flora Pseudomonas and Enterobacter spp. predominated. Duration of PN (AF median 30 days; NF median 9 days), incidence of sepsis (AF 29%; NF 6%), and septicemia (AF 22%; NF 2%) were significantly greater in the group of infants with abnormal flora. Surveillance cultures allow the detection of a subset of infants on PN at high risk of sepsis and septicemia. The degree of gut dysfunction related to the severity of underlying disease determines the duration of PN and the development of abnormal flora. The association between abnormal carriage and increased risk of sepsis and septicemia may be because of the intestinal endotoxin pool known to cause liver impairment and consequent suppression of systemic immunity.

Enterobacter↗
PubMed1996

Prevalence of anal human papillomavirus infection and anal cytologic abnormalities in HIV-seropositive women.

OBJECTIVE: To determine the prevalence of anal human papillomavirus (HPV) infections and anal cytologic abnormalities in HIV-seropositive and HIV-seronegative women. DESIGN: This cross-sectional study of a cohort of women with known HIV serostatus involved a standardized interview and a gynecologic examination, including a cytologic evaluation of the cervix and anus. Anal swabs were tested for HPV DNA using the Hybrid Capture assay. SETTING: Two HIV/AIDS clinics, a sexually transmitted disease clinic, a methadone clinic and women enrolled in a study of HIV heterosexual transmission in the greater New York City metropolitan area. PATIENTS: One hundred and two HIV-seropositive and 96 HIV-seronegative women were selected from an ongoing study of the gynecologic manifestations of HIV infection. MAIN OUTCOME MEASURES: Detection of anal HPV DNA and anal cytologic abnormalities. RESULTS: Anal cytologic abnormalities were detected in 27 (26%) of the 102 HIV-seropositive women and in six (7%) of 96 HIV-seronegative women. Five (5%) of the anal smears from the HIV-seropositive women and one (1%) from the HIV-seronegative women had low-grade anal intra-epithelial neoplasia. The remainder of the anal cytologic abnormalities were classified as mild squamous cytologic atypia. HPV DNA was detected in 30 (29%) of 102 HIV-seropositive and two (2%) of 96 HIV-seronegative women. Of the 33 patients with anal cytologic abnormalities, 19 (58%) had anal HPV DNA detected as compared to 13 (8%) of 160 women without cytologic abnormalities (P < 0.001). In a multivariate logistic regression analysis, HIV-seropositivity was found to be an independent risk factor for both anal HPV infection and anal cytologic abnormalities and the strength of the association was greater in women with lower CD4+ T-lymphocyte counts. CONCLUSION: The prevalence of both anal cytologic abnormalities and anal HPV infection are significantly increased in HIV-seropositive women.

Adult↗
PubMed2005

Illustrations of abdominal abnormalities on 99mTc tetrofosmin gated cardiac SPECT.

BACKGROUND: 99mTc tetrofosmin is predominantly cleared by the hepatobiliary system and its scan is analogous to a cholescintigraphy. The radiopharmaceutical may be localized in the bone marrow. During cardiac acquisition, when the area being viewed includes the lower thorax and abdomen, abnormalities of the liver, gallbladder and kidneys, and the radioactivity in the oesophagus, stomach and bowel, as well as bone marrow uptake, can be depicted by routine raw data cine images. Excluding the intrathoracic abnormalities, these abdominal abnormalities are illustrated in this paper. METHODS AND MATERIALS: Retrospectively, we reviewed the raw data cine images from 566 patients. These images were 180 degrees or 360 degrees rotation and showed the abdominal organs and thoracic cage, including the ribs, sternum and spine. We found 234 abnormalities, which were correlated with radiography, laboratory and clinical findings. RESULTS: Intra-abdominal abnormalities included bone marrow visualization, 93 occurrences (39.7%); duodeno-gastric (DG) and entero-gastric (EG) reflux, 47 (20.1%); non-visualization of the gallbladder, including possible causes of cholelithiasis, acute cholecystitis, or cholecystectomy, 31 (13.2%); elevation of the right diaphragm and depression of diaphragm, 30 (12.8%); renal abnormalities, including absent kidney, renal atrophy and cyst, 12 (5.1%); splenomegaly, 10 (4.3%); liver, including hepatomegaly and cirrhosis of the liver, eight (3.4%); and breast attenuation resulting in photopenia in the liver, three (1.2%). CONCLUSIONS: (1) The bone marrow uptake of the vertebrae accounts for almost 40% of the abdominal abnormalities, and is usually concordant with anaemia; (2) DG and EG refluxes represent 20% of abdominal abnormalities; they may have a clinical impact and may or may not interfere with SPECT processes and result in artifacts of the inferior wall of the left ventricle; (3) non-visualization of the gallbladder should prompt a search for cholelithiasis; and (4) benign renal cyst or cirrhosis of the liver could also be demonstrated. These coincidental findings may be included in routine cardiac SPECT reports that may have clinical impact because they give the referring physician the chance to pursue further clinical investigation.

Abdomen↗
PubMed2006

Value of 99mTc-methoxyisobutylisonitrile (99mTc-MIBI) gated SPECT for the detection of silent myocardial ischemia in hemodialysis patients: clinical variables associated with abnormal test results.

BACKGROUND: Although coronary artery disease is a major cause of mortality and morbidity in patients undergoing hemodialysis, there is no accurate diagnostic strategy for these patients. AIM: To assess the value of 99mTc-methoxyisobutylisonitrile (99mTc-MIBI) gated single-photon emission computed tomography for the detection of silent myocardial ischemia in patients undergoing hemodialysis and to evaluate the clinical variables associated with abnormal test results. METHODS: Thirty-one asymptomatic patients undergoing hemodialysis (20 men, 11 women), with a mean age of 45 years (range, 25-75 years), were included in the study. Serum electrolytes, creatinine, homocysteine and adhesion molecules were measured prior to dialysis. Ambulatory blood pressure, carotid intima-media thickness measurements, echocardiography and stress 99mTc-MIBI imaging were performed in all patients, whereas coronary angiography was performed only in patients with abnormal myocardial perfusion scintigraphy and/or echocardiography. RESULTS: Gated myocardial perfusion scintigraphy results were abnormal in nine patients (29%) and coronary angiography was abnormal in six patients. After a median follow-up of 20 months (range, 14-28 months), nine patients experienced a cardiac event. Seven of the nine patients (78%) with abnormal myocardial perfusion scintigraphy suffered a cardiac event, compared with only two of 22 patients (9%) with normal myocardial perfusion scintigraphy (P<0.0001). Patients with abnormal perfusion scintigraphy had higher serum C-reactive protein, homocysteine and adhesion molecule levels and the duration of hemodialysis was significantly longer. CONCLUSION: In asymptomatic hemodialysis patients, gated myocardial perfusion scintigraphy is a safe and non-invasive screening technique for the detection of coronary artery disease and for predicting future cardiac events. The presence of ischemia correlates significantly with markers of inflammation. The discordant results (abnormal myocardial perfusion scintigraphy/normal coronary angiography) can be attributed to angiographically unrecognized occult atherosclerotic changes and abnormal vasodilatation capacity of the coronary circulation.

Adult↗
PubMed1998

Incidence of neural axis abnormalities in infantile and juvenile patients with spinal deformity. Is a magnetic resonance image screening necessary?

STUDY DESIGN: A prospective and retrospective review of patients 10 years and younger with idiopathic scoliosis evaluated with a total spine magnetic resonance imaging (MRI) scan. OBJECTIVES: To determine the incidence of neural axis abnormalities in infantile and juvenile patients with idiopathic scoliosis without neurologic findings on history and examination, to determine the need for a screening MRI in this age group. SUMMARY OF BACKGROUND DATA: In previous studies, a 19.2% and 26% incidence of neural axis abnormalities were found in infantile and juvenile patients with "idiopathic" scoliosis, respectively, raising the question of routine MRI screening of the spinal canal in these patients. METHODS: A prospective study included 34 consecutive patients newborn to 10 years of age treated between 1992 and 1996 at a spinal deformity clinic with idiopathic scoliosis > 20 degrees without neurologic findings. In addition, a retrospective review of 64 patients age newborn to 10 years of age with idiopathic scoliosis was performed. All patients were evaluated by a total spine MRI protocol for examination of neural axis abnormalities. RESULTS: The incidence of neural axis abnormalities in the prospective group of 34 patients was 17.6% (6 of 34); the incidence of neural axis abnormalities was 20.3% (13 of 64) in the retrospective group. Of 6 patients in the infantile age range, 3 (50%) had neural axis abnormalities. CONCLUSIONS: A total spine MRI is recommended at presentation in patients with juvenile onset idiopathic scoliosis (> 20 degrees) because of the high incidence of neural axis abnormalities. Further study appears warranted to establish the incidence of neural axis abnormalities in infantile idiopathic scoliosis to determine the need for total spine MRI screening in this age group.

Arnold-Chiari Malformation↗
PubMed2004

Neovascularization and pain in abnormal patellar tendons of active jumping athletes.

OBJECTIVE: The aim of this study was to investigate tendon pain in abnormal patellar tendons with and without neovascularization. STUDY DESIGN: Comparative design. SETTING: Multidisciplinary tendon study group at a competitive volleyball venue. PARTICIPANTS: One hundred eleven volleyball players volunteered to participate in the study. MAIN OUTCOME MEASURES: Subjects' patellar tendons were imaged with ultrasound, with and without Doppler. Tendons that were imaging abnormal were categorized according the presence of tendon neovascularization. Subjects completed 3 pain scales that examined function (Victorian Institute of Sport Assessment score, 100-point maximum), pain with tendon load (decline squat, visual analogue scale, 100-mm maximum), and maximum pain for the previous week (visual analogue scale, 100-mm maximum). A 1-tailed Mann-Whitney U test compared pain scores in abnormal tendons without neovascularization to abnormal tendons with neovascularization. RESULTS: Functional scores were lower (Victorian Institute of Sport score, median, 78; P = 0.045) and pain scores under tendon load were greater (decline squat pain, median, 19; P = 0.048) in subjects with abnormal tendons with neovascularization than subjects with abnormal tendons without neovascularization (Victorian Institute of Sport Assessment score, median, 87; decline squat pain, median, 0). CONCLUSIONS: This study indicates that the presence of neovascularization in abnormal patellar tendons is associated with greater tendon pain compared with abnormal tendons without neovascularization in active jumping athletes.

Athletic Injuries↗
PubMed2004

Chromosome abnormalities may correlate with prognosis in Burkitt/Burkitt-like lymphomas of children and adolescents: a report from Children's Cancer Group Study CCG-E08.

Among pediatric non-Hodgkin lymphomas, the most frequent type is small noncleaved-cell lymphoma (including Burkitt and Burkitt-like). Specific chromosome abnormalities are associated with prognosis in childhood acute lymphoblastic leukemia (ALL); however, chromosome abnormalities have not been evaluated for prognostic value in pediatric Burkitt and Burkitt-like lymphomas. For Children's Cancer Group protocol CCG-E-08 Etiologic Study of Non-Hodgkin Lymphoma in Childhood, 19 patients were enrolled with cytogenetic analysis of Burkitt or Burkitt-like lymphoma and simultaneously enrolled on treatment protocols CCG-503 or CCG-552. Pathology material and karyotypes at initial diagnosis underwent central review. Demographics included an age range of 2 to 14 years (median 8 years) and a male:female ratio of 14:5. All patients had advanced disease (stages III and IV, or ALL). Disease relapsed in five patients (event-free survival 74%, median follow-up 10.4 years). Chromosome abnormalities were identified in 18 patients (95%) including t(8;14)(q24.1;q32) in 12 (63%); t(8;22)(q24.1;q11.2) in 1 (5%); partial duplication of 1q in 7 (37%); and 13q32 abnormalities in 2 (11%). In patients who had relapses, in addition to the t(8;14)(q24. ;q32), two had abnormalities of 13q32 and two had partial duplication of 1q. CMYC translocations were absent in Burkitt-like lymphomas from all three patients. Burkitt and Burkitt-like lymphomas in children have a high frequency of chromosome abnormalities. Burkitt lymphoma abnormalities often involve CMYC translocations, usually a t(8;14)(q24.1;q32). Additional chromosome abnormalities that involved 13q32 and partial duplication of 1q were associated with poor prognosis. Burkitt-like lymphomas were not associated with CMYC translocations. Further studies are warranted in larger cohorts of children and adolescents with Burkitt and Burkitt-like lymphomas.

Adolescent↗
PubMed2004

A strategy to detect chromosomal abnormalities in children with acute lymphoblastic leukemia.

Conventional cytogenetics (CC) can be used to identify chromosomal abnormalities that are predictors of treatment outcome in acute lymphoblastic leukemia (ALL). The detection of abnormalities in ALL is difficult because low mitotic index and poor-quality metaphases are obtained. Flow cytometry (FC) and fluorescence in situ hybridization (FISH) can be used to detect aneuploidy in any phase of the cell cycle, increasing the number of analyzable cells. The aim of this study was to develop a strategy combining these methods to improve the frequency of chromosome abnormality detection. One hundred children with newly diagnosed ALL were included. CC and DNA content analysis by FC were performed in all patients. The numerical abnormalities identified by both methods were compared and patients were classified as concordant or discordant. FISH was used to support aneuploidy results in discrepant cases using centromeric probes for the chromosomes most frequently involved in aneuploidy. CC and FC showed high concordance (86%). Fourteen cases were discrepant: nine showed hypodiploidy and low hyperdiploidy by cytogenetics and five showed high hyperdiploidy by FC. FISH confirmed aneuploidy in 12 cases in which it could be performed. High hyperdiploidy was the most common abnormality; the 31 cases showing this aneuploidy were identified by FC. The search for abnormalities must begin by measuring DNA content to detect this aneuploidy, which is useful to evaluate the patient's risk. However, it is important to screen for structural abnormalities by CC or molecular techniques. This strategy may detect chromosomal abnormalities, optimizing resources in laboratories where not all the screening methods are available.

Adolescent↗
PubMed2004

Acetabular labral tears rarely occur in the absence of bony abnormalities.

We evaluated the percentage of patients with acetabular labral tears who have a structural hip abnormality detectable by conventional radiography. Records from our institution from 1996 through 2002 were reviewed to identify all patients with labral tears. Patients were excluded who had classic hip dysplasia, advanced osteoarthritis, or a history of pelvic or femoral osteotomy. The hip radiographs were evaluated for abnormalities of Tönnis angle, center-edge angle of Wiberg, acetabular version, femoral neck-shaft angle, congruency between the femoral head and acetabulum, anterior femoral head-neck offset, and presence of femoral head osteophytes. Twenty-seven of the 31 patients (87%) had at least one abnormal finding and 35% had more than one abnormality. Ten patients had a retroverted acetabulum, 16 had coxa valga, 11 had an abnormal femoral head-neck offset, and 14 had osteophytes on the femoral head. Four of 31 patients (13%) had no identifiable structural abnormalities. To our knowledge, this is the first study to document that the majority of patients with labral tears have a structural hip abnormality detectable with conventional radiographs. Familiarity with these structural abnormalities is important for early detection and accurate diagnosis, and may impact optimal treatment planning and prognosis.

Acetabulum↗