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PubMed2000

Electrocardiographic abnormalities in patients treated with clozapine.

BACKGROUND: Cardiovascular side effects of clozapine are not uncommon, but few systematic studies of these effects have been performed. In this study, we reviewed data on the electrocardiographic (ECG) abnormalities in patients treated with clozapine. METHOD: Sixty-one patients treated with clozapine were selected from the Seoul National University Hospital Treatment-Resistant Schizophrenia Clinic. A retrospective chart review was conducted to identify ECG abnormalities and cardiovascular side effects. RESULTS: The prevalence of ECG abnormalities in patients who had been using antipsychotics other than clozapine was 13.6% at baseline, which increased significantly to 31.1% after commencement of clozapine treatment. Among the 53 patients without baseline ECG abnormalities, 13 showed new-onset ECG abnormalities after using clozapine. Normal ECG under previous antipsychotic medication reduced the risk of new-onset ECG abnormalities, whereas increased age was found to increase the risk. The occurrence of orthostatic hypotension or tachycardia was not related to the development of ECG abnormalities. Most of the newly developed abnormalities had little clinical significance, and they tended to occur during the initial phase of treatment. In 10 patients, ECGs normalized despite the continued use of clozapine. Clozapine increased corrected QT interval (QTc) in a dose-dependent fashion; however, the clinical significance of this observation is uncertain. Pathologic prolongation of QTc was found to be rare. CONCLUSION: Although a substantial portion of patients treated with clozapine developed ECG abnormalities, most of the abnormalities were benign and did not hinder further treatment.

Adolescent↗
PubMed2001

Point prevalence of cardiac abnormalities in children with systemic lupus erythematosus.

OBJECTIVE: To determine the point prevalence and pattern of silent cardiac abnormalities and associations with suspected risk factors in a sample of children with systemic lupus erythematosus (SLE). METHODS: Cross-sectional analysis of 19 children with SLE from a referral-based rheumatology clinic at an urban children's hospital. Patients were eligible if they were 20 years of age or younger and classified with SLE using the revised criteria of the American College of Rheumatology. Each patient completed a survey, physical examination, standard 12-lead electrocardiogram (ECG), echocardiogram, and had laboratory determinations of complement, triglyceride, and cholesterol levels. RESULTS: Six patients (32%) had cardiac abnormalities on ECG or echocardiogram. In 3, the abnormalities were mild and considered within the normal range. In 5, the abnormalities were considered silent. These abnormalities included ischemic changes (3 patients), valvular insufficiency (3 patients), ventricular repolarization defects (2 patients), cardiac enlargement (1 patient), and ventricular dysfunction (1 patient). Only a recent history of palpitations was significantly associated with the presence of cardiac abnormalities (p = 0.04). CONCLUSIONS: Silent cardiac abnormalities can occur in children with SLE. A recent history of palpitations may be associated with cardiac abnormalities. Routine evaluation of children with SLE using ECG and echocardiogram may help screen for these abnormalities. However, future studies comprising larger sample sizes and longitudinal followup will be required to determine the natural history of cardiac abnormalities in children with SLE and to identify risk factors.

Adolescent↗
PubMed2004

Examining the effect of cerebral perfusion abnormality magnitude on cognitive performance in recently abstinent chronic cocaine abusers.

BACKGROUND AND PURPOSE: Cerebral perfusion abnormalities and neuropsychological impairment are common sequelae of chronic cocaine abuse. While perfusion abnormalities have been shown to relate to cognitive deficits in this substance abuse population, the relationship between cognitive performance and the magnitude of perfusion abnormality has yet to be fully determined. METHODS: Thirty-seven abstinent cocaine abusers and 13 normal controls were administered resting 99m-Tc-HMPAO single photon emission computed tomography (SPECT) scans followed by a neuropsychological assessment battery tapping executive skills, attention, memory, and motor performance. Statistical parametric mapping (SPM99) techniques were used to analyze the SPECT data to detect significant regional perfusion abnormalities in the cocaine group relative to normal controls, and resulting abnormal SPECT counts were employed for comparison with the assessment measures to examine the relationship between cocaine-induced perfusion abnormalities and cognitive performance. RESULTS: SPECT data analysis revealed significant regional perfusion abnormalities in the cocaine abuse sample relative to controls and significant differences in neuropsychological functioning on measures of executive functioning, complex attention, memory, and manual dexterity. For chronic cocaine abusers, however, within-group comparisons of the magnitude of abnormal perfusion and neuropsychological performance were largely nonsignificant, with the exception of complex attention and motor speed. CONCLUSIONS: Perfusion abnormalities and neuropsychological impairments readily distinguished cocaine abusers from normal controls. However, when the magnitude of cocaine-induced perfusion abnormalities is examined in relation to cognitive performance, motor speed and complex attention appear to be the best behaviorial indicants of the severity of perfusion dysfunction within this substance abuse population.

Adolescent↗
PubMedDate not supplied

Screening for biochemical abnormalities in urolithiasis patients.

BACKGROUND: The significance of biochemical screening in stone formers has been a debated topic. This study was conducted to investigate the frequency of biochemical abnormalities in our urolithiasis patients and to compare the abnormality between the first time and recurrent stone formers so that this information would help in assessing the value of biochemical screening in our practice. METHODS: Over a twenty-one month period, new and recurrent stone disease patients had one random blood specimen and two random 24-hour urine collections analysed for biochemical abnormalities. Serum was checked for calcium, urate, phosphate and creatinine. The urines were measured for volumes, calcium, oxalate, urate, citrate, cystine and pH. RESULTS: Out of total of 113 patients, 83 (73%) had some urinary or blood abnormality. Highest number of abnormalities were in urine. Low volume 33 (39.76%), hypercalciuria 33 (39.76%) and hyperoxaluria 20 (24.1%) were the main urinary abnormalities. Elevated serum creatinine in 10 (12.05%) was commonest blood abnormality. Females had significantly higher frequencies of low urinary volume (48% vs 21%, p=0.001), hyperoxaluria (38% vs 11%, p=0.002) and hypocitraturia (37% vs 0%, p<0.001). There was no significant difference of abnormality rate between first time and recurrent stone formers. CONCLUSION: A high frequency of urinary biochemical abnormality and equal abnormality frequencies among first time and recurrent stone formers highlights the significance of biochemical screening even in cases of initial stone presentation. We feel such diagnostic evaluation would help in providing precise treatment and efficient prophylaxis.

Adolescent↗
PubMed2005

[Clinical characteristics of factory workers with asymptomatic liver function test abnormalities found on serial health examination].

BACKGROUND/AIMS: The liver function tests (LFTs), such as aspartate aminotransferase (AST), alanine aminotransferase (ALT), and gamma-glutamyltranspeptidase (gamma-GT), have been widely used as screening tests but their low positive predictive value can cause many false positive results. To evaluate the clinical usefulness of these tests, we analyzed the serial LFT results for factory workers, and we compared the risk factors for the groups that were divided according to the serial LFT results. METHODS: From June 2001 to October 2001, 1223 consecutive healthy workers in a single factory were enrolled in our study; a questionnaire, LFT and liver ultrasonography were done for all the subjects. The previous LFT results were collected from the Annual health examination survey. According to the abnormalities on the serial LFT, the participants were classified into three groups (abnormal-in-both, alternating or, normal-in-both) and the risk factors were compared among these groups using multiple logistic regression analysis. RESULTS: The prevalence of LFT abnormality on a single test was 16.8%, but on the serial LFT, only 5% of the study participants showed consistent abnormality. The risk factors for the abnormal-in-both group, compared with the alternating group, were liver ultrasonography abnormality such as a fatty liver (odds ratio, 2.2; P=0.026) and a heavy alcohol intake (more than 210 g/week) (odds ratio, 7.2; P=0.064). HBsAg was not a significant risk factor for any of the three groups. CONCLUSIONS: In factory workers having serial LFT abnormalities, alcoholic liver disease could be the principal cause of abnormal LFT. Even if the HBsAg were positive in patients with abnormal LFT, there is the possibility of another causes for LFT abnormalities such as alcoholic liver disease and non-alcoholic steatosis or steatohepatitis.

Adult↗
PubMed2005

Chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause.

OBJECTIVE: To study the prevalence of chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause in Hong Kong. DESIGN: Retrospective study. SETTING: Clinical Genetic Service, Hong Kong. PARTICIPANTS: Chinese women with premature menopause referred for cytogenetic study from January 1983 to November 2003. MAIN OUTCOME MEASURES: Chromosomal abnormalities, FMR1 gene premutation. RESULTS: Chromosomal abnormalities were present in 15.6% of Chinese women who suffered premature menopause. X-chromosome abnormality was involved in over 80% of cases. FMR1 gene premutation was present in 0.86% of 116 cases screened for this abnormality. The predominance of X-chromosome abnormality accounted for the shorter stature, younger menopausal age, and higher prevalence of dysmorphic features among the cytogenetically abnormal patients. However, on logistic regression, no clinical feature was significantly correlated with cytogenetic abnormality. CONCLUSIONS: The prevalence of chromosomal abnormalities among Hong Kong Chinese women who suffer premature menopause was comparable with that of Caucasian and Chinese populations elsewhere. Because clinical features are poor predictors of cytogenetic abnormality, a pragmatic approach to screening is advocated. The carrier rate of fragile X premutation in these women appeared lower than that of Caucasians. Nevertheless, a search for FMR1 gene premutation, in addition to conventional chromosomal study, has important implication for prenatal diagnosis and fertility management for the extended family.

Adult↗
PubMed1991

Therapy-related myelodysplastic syndrome and acute myeloid leukemia in children: correlation between chromosomal abnormalities and prior therapy.

We have studied 20 children with therapy-related myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) who were 3 months to 16 years old at diagnosis of their primary neoplasm and 1 to 24 years old at diagnosis of their secondary neoplasm. The median interval from initial treatment for the first malignancy to diagnosis of therapy-related MDS or AML was 46 months (range, 12 to 116 months). Twelve patients had chromosomal abnormalities resulting in loss of material from the long arm of chromosomes 5 and/or 7, three patients had abnormalities of chromosome 11 band q23, one patient had both classes of abnormalities, three patients had other abnormalities, and one patient had a normal karyotype. Ten of 12 patients with chromosome 5 and/or 7 abnormalities had been exposed to an alkylating agent, and two of three patients with 11q23 abnormalities had been exposed to an epipodophyllotoxin. The patient with both classes of abnormalities had been exposed to both types of therapy. We conclude that abnormalities of chromosomes 5 and/or 7 are common in children with therapy-related MDS or AML. The proposed relationships between exposure to alkylating agents and abnormalities of chromosomes 5 and/or 7 and between exposure to epipodophyllotoxins and abnormalities of 11q23 are supported in this pediatric series.

Adolescent↗
PubMed1991

The role of oxidative abnormalities in the pathophysiology of Alzheimer's disease.

Several lines of evidence suggest that abnormalities in oxidative metabolism and specifically in mitochondria may play an important role in Alzheimer's disease. Abnormalities of oxidative metabolism exist in this disorder. They have been demonstrated in brain studied in vivo, ex vivo (biopsies), at autopsy, and in non-neural tissues including cultured cells. The abnormalities include a profound deficit in the activity of the ketoglutarate dehydrogenase complex (KGDHC), which is likely to lead to impaired metabolism of glutamate and might contribute to selective neuronal cell death by excitotoxic mechanisms as well as by direct effects on energy metabolism through its role in the tricarboxylic acid cycle. Abnormalities in oxidative metabolism may be related to the pathophysiology of Alzheimer's disease by plausible mechanisms for which there is evidence at least in model systems. Hypoxia is known to induce neuropsychological impairments analogous to those which occur in dementing syndromes. Brain, and specifically neurons, are likely to be particularly vulnerable to impairments of oxidative metabolism because of their demonstrated tight dependence on continuous oxidation of glucose to maintain their structure and function. Neuroanatomic studies as well as recent data from CT, PET, and SPECT scanning agree with formulations that suggest the brain areas of greatest vulnerability in Alzheimer's disease include those particularly sensitive to oxidative impairments. Although the mechanisms of accumulation of the classical neuropathological hallmarks of Alzheimer's disease (paired helical filaments, amyloid plaques) are not known, experimental data suggest that metabolic stresses may contribute to the accumulation of these materials. These data include the accumulation of immunoreactivity of anti-paired helical filament antibodies in cells exposed to a mitochondrial poison, the uncoupler CCCP. Impairments of oxidative metabolism are known to impair the metabolism of neurotransmitters involved in Alzheimer's disease; the synthesis of acetylcholine, which is characteristically involved, is exquisitely sensitive to oxidative abnormalities. Experimental evidence suggests that abnormalities of cellular calcium homeostasis, which have been demonstrated in Alzheimer cells, may mediate key deleterious effects of the abnormalities in oxidative metabolism in this disorder. Experimental studies in animals indicate that age potentiates the effects of inherent oxidative abnormalities on the brain, as does cerebrovascular disease. These observations might help to explain the increasing clinical expression of the gene for Alzheimer's disease with age. They are also in accord with difficulties in separating the role of vascular from that of inherent degenerative factors in dementia of later onset. Treatment with L-carnitine, a manipulation designed to mitigate consequences of a mitochondrial abnormality, normalized several non-mitochondrial abnormalities in cultured Alzheimer cells.(ABSTRACT TRUNCATED AT 400 WORDS)

Alzheimer Disease↗
PubMed1990

Abnormalities of the long arm of chromosome 6 in childhood acute lymphoblastic leukemia.

To determine the biologic significance of the structural rearrangements of the long arm of chromosome 6(6q) in acute lymphoblastic leukemia (ALL) at diagnosis, we studied 412 consecutive children whose leukemic cell chromosomes had been completely banded and identified 45 (11%) children with this abnormality. The 45 cases were divided into del(6q) only (n = 11), del(6q) and numerical abnormalities (n = 4), del(6q) and structural abnormalities (n = 23), and 6q translocations (n = 7). The breakpoints of del(6q) were subgrouped: del(6)(q15q21) in 11 cases, del(6) (q13q21) in six, del(6)(q21q23) in four, del(6)(q15) in four, del(6)(q15q23) in three, and other deletions in 10 cases. Notably, all these deletions encompassed the 6q21 band, suggesting that this might be the locus of a recessive tumor suppressor gene, the absence of which contributes to malignant transformation or proliferation. Among the seven children with 6q translocations, a previously unidentified nonrandom translocation, t(6;12)(q21;p13) was noted in two cases with an early pre-B immunophenotype. Clinical features and event-free survival were similar among children with or without 6q abnormalities. Overall, children with 6q abnormalities were less likely than those without the abnormality to have a pre-B immunophenotype (P = .03). T-cell immunophenotypes were equally represented in cases with or without 6q abnormalities. However, all four children with del(6q) and a 12p abnormality had early pre-B ALL and all three children with del(6q) and a 9p abnormality had a T-cell immunophenotype. The lack of specificity for a particular immunophenotype may imply that the gene or genes affected by 6q abnormalities are broadly active in the multistep process of lymphoid leukemogenesis. The relatively high frequency of microscopically visible del(6q) indicates the need for molecular studies to identify cases with submicroscopic deletions.

Child↗
PubMed1990

Chromosomal abnormalities in untreated patients with non-Hodgkin's lymphoma: associations with histology, clinical characteristics, and treatment outcome. The Nebraska Lymphoma Study Group.

We describe the chromosomal abnormalities found in 104 previously untreated patients with non-Hodgkin's lymphoma (NHL) and the correlations of these abnormalities with disease characteristics. The cytogenetic method used was a 24- to 48-hour culture, followed by G-banding. Several significant associations were discovered. A trisomy 3 was correlated with high-grade NHL. In the patients with an immunoblastic NHL, an abnormal chromosome no. 3 or 6 was found significantly more frequently. As previously described, a t(14;18) was significantly correlated with a follicular growth pattern. Abnormalities on chromosome no. 17 were correlated with a diffuse histology and a shorter survival. A shorter survival was also correlated with a +5, +6, +18, all abnormalities on chromosome no. 5, or involvement of breakpoint 14q11-12. In a multivariate analysis, these chromosomal abnormalities appeared to be independent prognostic factors and correlated with survival more strongly than any traditional prognostic variable. Patients with a t(11;14)(q13;q32) had an elevated lactate dehydrogenase (LDH). Skin infiltration was correlated with abnormalities on 2p. Abnormalities involving breakpoints 6q11-16 were correlated with B symptoms. Patients with abnormalities involving breakpoints 3q21-25 and 13q21-24 had more frequent bulky disease. The correlations of certain clinical findings with specific chromosomal abnormalities might help unveil the pathogenetic mechanisms of NHL and tailor treatment regimens.

Aged↗
PubMed1990

Perinatal characteristics of the phenotypically and chromosomally abnormal live-born.

Perinatal characteristics of 105 singleton live infants born during the last 5 years and suspected phenotypically of having karyotypic abnormalities were studied; 33 abnormal karyotypes were found. These pregnancies were compared with all pregnancies delivering at our hospital during the same time period. A retrospective analysis using our perinatal data base examined maternal age, gravidity, parity, race, mode of delivery, birth weight, gestational age at delivery, Apgar scores, and size for gestational age. Within the phenotypically abnormal group, karyotypically normal and abnormal infants showed no significant differences in primary cesarean rates, low Apgar scores, mean birth weight, or appropriateness of size for gestational age. Karyotypically abnormal infants were smaller than the general population (P less than .001) and had lower Apgar scores (P less than .05) but were just as likely to be full-term (66.7 versus 70.3%). These chromosomally abnormal pregnancies had a higher primary cesarean rate than the general population (30.3 versus 15.4%; P less than .001). Black infants undergoing genetic studies had a 37% rate of karyotypic abnormalities, which was significantly higher than the 12.5% rate in the white infants tested (P less than .05). The term black infant with phenotypic abnormalities suggestive of karyotypic abnormalities may be less likely to be recognized and appropriately tested. Increased awareness of phenotypic abnormalities with subsequent genetic testing seems warranted.

Cesarean Section↗
PubMedDate not supplied

Abnormal cortical unit activity of the reticular formation.

Many neurological disorders are accompanied by abnormal nerve activity. However, the exact causes of this abnormal nervous activity has never been determined. Based upon my research, I propose a theory that the underlying cause of many types of neurological disorders such as minor epilepsy and narcolepsy is an abnormally functioning Na+/K+ ATPase pump at the molecular framework of the brain, notably the brainstem reticular formation (locus coerulus) and cerebellum in this particular case. The excessive and repetitive nerve activity within localized areas of the brain caused by abnormally functioning molecular Na+/K+ ATPase ion pumps may be the primary and true causes of many different types of neurological disorders since constant depolarizations of the cell membrane causes abnormally excessive amounts of certain neurotransmitters to be released. The type of neurological disorder may be a function of the abnormally occurring Na+/K+ ATPase molecular ion pump's localization within the neurological framework of the brain. To focus on my theory of repetitive nervous activity from abnormal inhibitive or defective Na+/K+ ATPase pumps, I have chosen to analyze minor epilepsy and narcolepsy intentionally. What is found is that the abnormal release of neurotransmitters during epileptic seizures or narcoleptic sleep episodes is secondary to the abnormal neuronal systematic framework underlying Na+/K+ membrane potentials since an abnormally inhibited or defective Na+/K+ ATPase pump has a direct electrogenic effect on the membrane potential.

Cerebellum↗
PubMed1994

A prospective study of neurophysiologic, neurologic and immunologic abnormalities in systemic lupus erythematosus.

OBJECTIVE: To describe neurologic and neurophysiologic (NP) outcome in patients with systemic lupus erythematosus (SLE) followed prospectively and to determine predictors of change in NP status. METHODS: Clinical examination, laboratory and NP tests (brain stem auditory and visual evoked responses, peripheral nerve conduction studies) were performed in 18 unselected patients with SLE attending a general rheumatology clinic at enrollment into the study (baseline) and after a 2-year (mean) period of followup. RESULTS: Fifty percent (9/18) and 83% (15/18) of patients had neurological abnormalities at baseline and followup, respectively, the most common of which were headache and peripheral neuropathy. NP abnormalities were found in 56% (10/18) and 61% (11/18) of patients at baseline and followup. The most frequent abnormalities at both visits were of peripheral nerve conduction [33% (6/18) and 56% (10/18), respectively] and abnormalities of brainstem and/or visual evoked responses were found in 28% (5/18) and 22% (4/18) of patients at both visits. At baseline, vasculitis was significantly increased in patients with NP abnormalities (p = 0.04). NP status deteriorated between visits in 8 patients (44%), 6 of whom acquired peripheral abnormalities. Improvement in NP status was only noted in patients (2/18, 11%) who had NP abnormalities restricted to the central nervous system. Associations were seen between elevated dsDNA antibodies, vasculitis, and lymphopenia, and the risk of acquiring new NP abnormalities. CONCLUSION: Patients with SLE had many neurological and NP abnormalities. NP deficits acquired were most often of peripheral nerve conduction. The ability to identify and classify clinical and subclinical neurological abnormalities in patients with SLE using NP tests may enhance our understanding and management of their neurological disease.

Adult↗
PubMed1993

Glucose tolerance test: degree of glucose abnormality correlates with neonatal outcome.

OBJECTIVE: To determine how well the extent of glucose abnormality, as reflected by the number of abnormal values on the 3-hour oral glucose tolerance test (GTT), correlates with the level of carbohydrate intolerance during pregnancy and with the severity of adverse outcome. METHODS: We followed 764 gestational diabetic women under a once-per-week fasting and 2-hour postprandial serum glucose monitoring system. The subjects were stratified by the number of abnormal values on their GTTs. The level of glucose control and incidence of large for gestational age (LGA) infants were then determined and compared with the findings in 636 gravidas with abnormal screening but all normal GTT values. RESULTS: Patients with one or more abnormal GTT values had comparable incidences of LGA infants, which were all significantly greater than that in the 0-abnormal group (23-27% versus 13%; P < .01). This difference was due to subjects with poor glucose control. The means of the GTT values for each sampling time were greater and the GTT periodicity (the time for the GTT curve to return to the fasting level) was longer with an increasing number of GTT abnormal values (zero versus one versus two versus three versus four abnormal values, P < .02). The mean fasting, 2-hour postprandial, and overall mean glucose values during the study were positively associated with the number of abnormal GTT values. CONCLUSIONS: One or more abnormal GTT values were associated with comparably elevated incidences of LGA infants in patients with poor glycemic control. Achievement of recommended glucose control decreased adverse outcomes to near normal levels.

Adult↗
PubMed1996

MR of the cerebral operculum: abnormal opercular formation in infants and children.

PURPOSE: To evaluate abnormalities of the cerebral operculum in infants and children and to propose the embryogenic basis of abnormal opercular formation as determined from MR imaging findings. METHODS: Eighty-six infants and children who had abnormally wide interopercular distances and/or distorted opercular topography seen on MR images were studied retrospectively. Clinically, patients presented with tonal abnormalities, macrocephaly, microcephaly, seizures, developmental delay, cerebral palsy, or facial dysmorphism. The abnormal opercula were compared with developing opercula at different stages of gestation. RESULTS: Among the 86 infants and children, two categories of opercular abnormalities were identified: an underdeveloped operculum (n = 64) and a malformed operculum (n = 22). The malformed operculum was further classified into three subtypes: nonformation of the operculum with lissencephaly (n = 1, 1%), abnormal opercular formation with pachygyria (n = 11, 13%), and nonformation or abnormal formation of the operculum without pachygyria or lissencephaly (n = 10, 12%). Two subtypes of the underdeveloped operculum were identified: an open operculum without a normal insula (n = 6, 7%) and an open operculum with a normal insula (n = 58, 67%). The five subtypes of abnormal opercular configuration showed a range of maturity that was comparable to the developing operculum at different ages. CONCLUSION: Opercular anomalies appear to follow sequentially predetermined normal steps in development. Arrest in opercular development or malformation may occur after an initial insult. MR imaging is the method of choice by which to identify these abnormalities.

Adolescent↗
PubMed1997

Recurring structural chromosome abnormalities in peripheral blood lymphocytes of patients with mycosis fungoides/Sézary syndrome.

Cytogenetic analysis was performed on peripheral blood lymphocyte cultures from 19 patients with mycosis fungoides (MF)/Sézary syndrome (SS) stimulated with either phytohemagglutinin, a conventional mitogen, or a combination of interleukin-2 (IL-2) plus IL-7. The use of both PHA-stimulated and IL-2 plus IL-7-stimulated cultures enhanced the ability to identify clonal abnormalities. Clonal abnormalities were observed in 11 patients (53%) including one with monosomy for the sex chromosome as the sole abnormality. Five of the 11 patients with clonal abnormalities had normal peripheral white blood cell counts, indicating detectability of clones in the absence of frankly leukemic disease. The presence of clonal abnormalities correlated with advanced stage disease and a significantly reduced survival duration from the time of cytogenetic studies. Clonal abnormalities involving chromosomes 1 and 8 were observed in six cases. In five cases with aberrations of chromosome 1, loss of material involved the region between 1p22 and 1p36. In an additional case, a reciprocal translocation involving 1p33 was observed. Clonal abnormalities involving chromosomes 10 and 17 were observed in 5 cases, clonal abnormalities involving chromosome 2 in 4 cases, and clonal abnormalities involving chromosomes 4, 5, 6, 9, 13, 15, 19, and 20 in 3 cases. In 2 cases a der(8)t(8;17)(p11;q11) was observed. Regions of the genome that encode T-cell receptors were not involved in abnormalities. The region between 1p22 and 1p36 is identified as a region of the genome that requires detailed analysis toward the identification of potential gene(s) involved in the process of malignant transformation and/or progression in MF/SS.

Adult↗
PubMed1997

Prevalence rates of major and minor electrocardiogram abnormalities in the Singapore general population.

A cross-sectional survey on the general population was carried out in Singapore, with each of the 2143 persons (Chinese, Malays and Indians) aged 18 to 69 years having a 12-lead resting electrocardiogram (ECG). The tracings were coded according to the Minnesota Code with major abnormalities being Q wave changes (1-1 and 1-2), complete atrio-ventricular (A-V) block (6-1), and left bundle branch block (7-1) and minor abnormalities being lesser Q wave changes (1-3), ST depression of at least 1 mm (4-1), and T wave inversion of at least 1 mm (5-1 and 5-2). In all age groups the prevalence rates of any major abnormality were higher in males than females. In the age-adjusted 18-69 age group the prevalence rates in males and females were 2.0% and 0.5% respectively (P = 0.001). The prevalence rates of any minor abnormality (without any major abnormality) were higher in females than males in all age groups and in the age-adjusted 18-69 age group the prevalence rates in males and females were 3.5% and 5.4% respectively (P = 0.027). The prevalence rates of any minor abnormality (without any major abnormality) in the 18-29 age group in males and females were 2.2% and 4.7% respectively, indicating that these proportions of the population have minor abnormalities as a normal physiological variant. It is estimated in the 50-69 age group that 33.8% of males and 50.0% of females with any minor abnormality (without any major abnormality) have these changes as a normal physiological variant.

Adult↗
PubMed2001

Description and mission evaluation of the Hungarian case-control surveillance of congenital abnormalities, 1980-1996.

BACKGROUND: The Hungarian Case-Control Surveillance of Congenital Abnormalities was established in 1980. This article describes how the Hungarian Case-Control Surveillance of Congenital Abnormalities was first organized and is currently maintained. The baseline statistics are provided and potential venues of postmarketing surveillance of drug teratogenicity and other public health tasks and research are proposed. METHODS: Cases with congenital abnormalities and patient controls with Down syndrome were selected from the Hungarian Congenital Abnormality Registry. Population controls without congenital abnormalities were selected from the National Birth Registry on the basis of three matching criteria: sex, week of birth, and district of parent's residence. Three sources of information concerning drug exposures, maternal disorders, and pregnancy complications, among others, were used: (1) prospective and medically recorded data from antenatal care logbooks and discharge summaries; (2) retrospective maternal self-reported data obtained with a structured questionnaire in all the three study groups; and (3) data collected by regional nurse in house visits to nonrespondent cases and patient controls. Twenty-five congenital abnormality groups were evaluated. During the 17-year period of data collection, 22,843 cases, 38,151 population controls, and 834 patient controls were incorporated into the data set, constituting the largest population-based case-control data set of congenital abnormalities to date. RESULTS: Demographic features of pregnant women and informative offspring are presented along with the distribution of 25 main groups of congenital abnormalities. CONCLUSIONS: This system is appropriate for postmarketing the surveillance of drug teratogenicity, for the improvement of congenital abnormality diagnosis, to get informed consent, to have a communication with parents and to provide material for research.

Abnormalities, Drug-Induced↗