Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ABNORMALITIES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 595 records · Page 33Linked to original sources
PubMed2001

Thoracolumbar spinal abnormalities in Stickler syndrome.

STUDY DESIGN: Retrospective review of clinical and radiographic records of patients with Stickler syndrome. OBJECTIVES: To describe thoracolumbar spinal abnormalities and their correlation with age and back pain among patients with Stickler syndrome. SUMMARY OF BACKGROUND DATA: Stickler syndrome (hereditary arthro-ophthalmopathy) is an autosomal dominant connective tissue disorder characterized by skeletal, ocular, oral-facial, cardiac, and auditory manifestations. Prevalence is approximately 1 in 10,000 (similar to that of Marfan syndrome). No one has investigated spinal abnormalities in a large series of patients. METHODS: A single-center evaluation of 53 patients from 24 families with Stickler syndrome (age range, 1-70 years) in a multidisciplinary genetics clinic. Thoracolumbar radiographs were analyzed for spinal abnormalities and correlation with age and back pain. RESULTS: Thirty-four percent of patients had scoliosis, 74% endplate abnormalities, 64% Schmorl's nodes, 43% platyspondylia, and 43% Scheuermann-like kyphosis. Sixty-seven percent of patients and 85% of adults reported chronic back pain. Endplate abnormalities and Schmorl's nodes were associated with adult age; endplate abnormalities, Schmorl's nodes, and adult age were associated with back pain. Only one adult patient was free of spinal abnormalities. CONCLUSIONS: Spinal abnormalities are nearly uniformly observed in Stickler syndrome, progress with age, and are associated with back pain. Although common, scoliosis is generally self-limited (only one patient needed surgical treatment). Correct diagnosis of this syndrome facilitates early identification and management of other potentially severe systemic manifestations and genetic counseling for affected families. Moreover, recognition of Stickler syndrome allows accurate prognosis for skeletal abnormalities and anticipation of potential surgical complications.

Adolescent↗
PubMed1999

Congenital airway abnormalities in patients requiring hospitalization.

OBJECTIVE: To determine the cause of congenital airway abnormalities in pediatric patients requiring hospitalization for their respiratory status. DESIGN AND SETTING: Case series in a tertiary care center. PATIENTS: A 5-year retrospective chart review was conducted at our institution. A total of 174 patients were identified who required hospitalization for their respiratory status as a result of a congenital airway abnormality. RESULTS: Of the 174 patients, 114 (65.5%) were male and 60 (34.5%) were female. Eighty patients (47%) presented within the first 3 months of life. Forty-six patients (26%) were born prematurely, and 49 patients (28%) were diagnosed as having gastroesophageal reflux. The majority of patients (139 [80%]) had multiple presenting symptoms or signs. Stridor was the most common (129 [74%]), followed by accessory respiratory effort, cyanosis, apnea, and failure to thrive. Diagnosis was made at the time of surgical evaluation in 91% of the patients, with the remaining diagnoses made using radiological findings and/or clinical evaluation. Sixty-five patients (37%) had multiple sites of airway abnormalities; laryngeal abnormalities were noted almost 3 times as often as tracheal abnormalities (161 vs 62, respectively). Of the laryngeal abnormalities, laryngomalacia was the most common, followed by glottic web, subglottic stenosis, vocal-cord paralysis, and subglottic hemangioma. Tracheomalacia was the most common tracheal abnormality, followed by external compression and tracheal stenosis. Thirty-three patients (19%) required tracheotomy for management of recurrent respiratory decompensation. CONCLUSIONS: While congenital airway abnormalities are usually self-limited, those patients requiring hospitalization represent a group with a more severe respiratory status who have a greater chance of requiring tracheotomy. The recognizable percentage of patients with gastroesophageal reflux and prematurity accounts for comorbid factors in the need for hospitalization for respiratory issues related to congenital airway abnormalities.

Age Distribution↗
PubMed2004

Abnormalities of the vertebral column and ribs associated with anorectal malformations.

Lumbosacral vertebral abnormalities are a common association of anorectal malformations (ARMs) and are one of the determinants of the eventual level of fecal continence that can be achieved. This study used a fetal rat model to investigate the spectrum of axial skeletal maldevelopment that may occur with ARMs. Time-mated pregnant rats received 125 mg/kg of 1% ethylenethiourea (ETU) (experimental group) or vehicle only (control). Their fetuses were examined for external malformations and prepared for staining of their skeletons using Alcian blue and Alizarin red S. ARMs developed in 67/68 (98%) of ETU-exposed fetuses, of which 28 (42%) also developed rachischisis, mainly involving the lumbosacral vertebrae. No skeletal abnormality was found in control fetuses. ETU-exposed fetuses with ARMs and rachischisis had abnormal ossification of the vertebral centrum, abnormal fusion between the neural arches of vertebrae, localized narrow or interrupted thoracic vertebral canal, a widely open vertebral canal in the lumbosacral area (rachischisis), and absence of the lower two sacral and coccygeal vertebrae. Rib abnormalities included absence of two to three floating ribs, abnormal fusion of adjacent proximal segments, and abnormal ramification, irregularity, and angulation of their distal segments. The vertebral and rib abnormalities found in ETU-exposed fetuses with ARMs but no rachischisis were much less severe. In addition to the lumbosacral anomalies that are common with ARMs, severe abnormalities of the thoracic vertebrae and their corresponding ribs may occur also. Fetuses with both ARM and rachischisis tend to have more extensive and severe vertebral and rib anomalies. These observations imply a possible common aetiology for ARMs and vertebral anomalies and are consistent with our understanding of the perceived role of the notochord in axial development.

Abnormalities, Drug-Induced↗
PubMed1998

Comparison of endoscopy and radiographic fluoroscopy in the evaluation of pediatric congenital airway abnormalities.

In order to assess the accuracy of conventional dynamic radiographic studies compared to endoscopy in the diagnosis of congenital airway abnormalities, we performed a retrospective chart review for the period between July 1991 to June 1996. A total of 186 patients were identified who required hospitalization for their respiratory status as a result of a congenital airway abnormality. Of these, 19% had both endoscopy and conventional dynamic radiographic evaluation (airway fluoroscopy, barium esophagography, or both). Eleven percent had fluoroscopy only, 62% had endoscopy only, and 9% had neither. In those patients who underwent both endoscopic and conventional dynamic radiographic evaluation, endoscopy was considered to be the definitive procedure for diagnosis. Laryngomalacia was present in 94% of these patients. Thirteen patients had multiple sites of airway abnormalities on endoscopy, and a total of 51 abnormalities were identified. Dynamic radiographic evaluation was correct in four, was suggestive of the abnormality in 12, did not recognize an abnormality in 33, and suggested a different diagnosis (not corresponding to endoscopy) in two. Thus, airway fluoroscopy and/or barium esophagography were correct or suggestive in 16 of 51 abnormalities (31%). We conclude that endoscopy is required in the majority of hospitalized patients for the precise diagnosis of a congenital airway abnormality. Conventional dynamic radiographic studies are helpful to confirm a suspected diagnosis in patients with a strong clinical history and physical examination. When the diagnosis is not clear based on the patient presentation, endoscopy is more definitive than conventional dynamic radiography in identifying pediatric congenital airway abnormalities.

Child, Preschool↗
PubMed2005

Frequency of truly cryptic subtelomere abnormalities--a study of 534 patients and literature review.

Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review. Unbalanced subtelomere chromosome rearrangements are a significant cause of mental retardation with approximately 5% of over 3000 affected individuals tested worldwide having a chromosome rearrangement of this type. Many of these abnormalities are detectable using routine karyotyping at the 550 band level and therefore are not considered to be cryptic. The frequency of truly cryptic subtelomere abnormality should be less than 5% but has not been established. In this study, we defined 'cryptic abnormality' as one not detectable at the 550 band level on routine karyotyping. Using this as one of the selection criteria, we have studied 534 individuals with mental retardation/ developmental delay (MR/DD) and referred for subtelomere study by clinical geneticists. We have identified seven cases with cryptic subtelomere abnormalities. The clinical features of the seven abnormal cases are summarized. Literature review identified five publications on the identification of subtelomere abnormalities which used similar recruitment criteria: (a) normal karyotype at the 550 band level and (b) subjects were selected for subtelomere studies. Combining the data from these studies with those of the current study, 1154 patients were tested and 30 subtelomere abnormalities were identified. We estimate the frequency of truly cryptic subtelomere abnormality to be approximately 2.6% (30/1154) in children with MR/DD who are referred for subtelomere study.

Abnormalities, Multiple↗
PubMed1977

Cardiac, skeletal and ophthalmologic abnormalities in relatives of patients with the Marfan syndrome.

Nine patients with the Marfan syndrome and 40 of their first degree relatives were evaluated for the presence of cardiac, skeletal and ophthalmologic abnormalities. Aortic root dilatation and mitral valve prolapse were sought by echocardiography, and the metacarpal index was calculated from hand X-rays. Abnormalities of all the tests performed were present in all nine index cases, except for one normal eye exam. Mitral prolapse was present in thirteen relatives (33%) and aortic root dilatation in seven (18%). At least one cardiac abnormality was present in nineteen (47%) relatives. Aortic root dilatation was more common in male relatives; the incidence of mitral prolapse was approximately equal in the two sexes. Abnormal metacarpal index (greater than 8.0) occurred in fifteen of twenty-six relatives examined (58%). Ophthalmologic abnormalities were found in only four relatives. Two relatives had abnormalities of all three organ systems evaluated, five others had abnormalities of two systems, and fourteen had abnormalities of one system. We conclude that cardiac and skeletal abnormalities are demonstrable in a high percentage of first degree relatives of patients with the Marfan syndrome.

Adolescent↗
PubMed1986

Fetal facial abnormalities identified during obstetric sonography.

The orbits and, if readily accessible, the facial profile were visualized as part of a brief fetal anatomy survey during approximately 7100 low-risk and high-risk obstetric sonographic examinations. This examination identified 17 facial abnormalities in 11 fetuses. There were seven abnormalities of the eyes, including three instances of absence of both eyes, two of hypertelorism, one of proptosis, and one of relative prominence. There were seven abnormalities of the nose, including three instances of marked flattening, one of absence, one of a proboscis, one of a single nostril, and one of a sunken appearance. There were two abnormally small chins. There was one marked cleft that involved the nose, lip, and palate. At least two fetuses with abnormal faces were missed entirely and coexistent facial abnormalities were missed in another three fetuses. Of the 11 fetuses with facial abnormalities identified, eight had other structural abnormalities as well, and the other three had either polyhydramnios or a history of teratogen exposure. A brief facial examination done as part of the fetal anatomy survey helps to identify abnormalities in high-risk fetuses but is considerably less productive in low-risk fetuses.

Abnormalities, Multiple↗
PubMed1995

[The occurrence of congenital abnormalities in children under 2 years of age in Zielona Gora province between 1987-1992].

The analysis encompassed 1278 children under 2 years of age with congenital abnormalities from a group of 60, 815 live-born neonates in Zielona Góra province between 1987-1992. The population prevalence of congenital abnormalities was 2.10% on average. Cardiovascular system abnormalities were the most frequent, making up 40.53% of all detected abnormalities and 0.85% of the analyzed population. The successive positions were abnormalities of: the limbs (15.41% of all detected abnormalities and 0.31% of the analyzed population), genitourinary system (9.08% and 0.19% respectively), central nervous system (7.51% i 0.16%) and digestive system (6.57% and 0.14). There were no statistically significant differences between sexes, towns and villages, jobs of mothers and months of birth. Congenital abnormalities were twice as frequent (4.83%) in low-birth-weight neonates. Deaths caused by congenital abnormalities made 30.9% of total infantile mortality. 66% of children with congenital abnormalities (mainly heart defects) died in first month of life.

Congenital Abnormalities↗
PubMed1997

[Usefulness of ultrasonographic markers in chromosomal abnormalities].

During a 3 and 1/2 years, 132 pregnancies were diagnosed as having a wide variety of congenital abnormalities. A high resolution ultrasound and multidisciplinary approach was used. In 95 cases fetal karyotyping was made. In this group the incidence of chromosomal abnormalities diagnosed during the period and phenotypic expression of the different types of chromosomal abnormalities was investigated. 29 abnormal karyotypes were found; 11 trisomy 18, 7 in monosomy X, 4 in trisomy 21, 3 in trisomy 13, 1 with tetraploidy (92XXYY), 1 Turner mosaic (45XO 68% 46XY 32%), 2 inversions of choromosome 9. Of the total abnormal chromosomal diagnosed during the period (N = 57), this group represented 49.2%, compared to 5 to 15% found in other risk groups. 224 congenital abnormalities were found. 43 (19%) isolated, and 181 (81%) associated. Of the 224 congenital abnormalities diagnosed, 80 (36%) were associated with chromosomal abnormalities. The most associated markers were duodenal atresia, heart defect, microcephaly, enlarged posterior fossa, and cystic hygromata. A specific markers pattern was found for each aneuploidy; heart defects for trisomy 18, holoprosencephaly and faciel cleft for trisomy 13, and cystic hygromata for monosomy X. It was concluded that the ultasound can be the most useful method to select the group of pregnant women with a higher risk of abnormal karyotype.

Adult↗
PubMed2003

Retinal microvascular abnormalities in patients treated with external radiation for graves ophthalmopathy.

BACKGROUND: A prospective study was conducted to determine if external ionizing radiation could favorably influence the orbital manifestations of Graves ophthalmopathy. Diabetes and untreated systemic hypertension were exclusion criteria. Radiation was directed to the orbits of 42 affected patients using 0.2 rad (20 Gy) delivered in 10 doses of 0.02 rad (2 Gy). Patients were periodically examined during a 3-year interval. OBJECTIVE: To report retinal microvascular abnormalities observed in our study cohort. METHODS: Fundus findings documented with ophthalmoscopy, stereoscopic color photography, and stereoscopic fluorescein angiography prior to radiation were compared with similarly documented findings approximately 3 years following radiation. RESULTS: Prior to orbital radiation, retinal microvascular abnormalities were identified in 2 patients. The abnormalities were present bilaterally in one patient and unilaterally in the other. During the course of the study, microvascular abnormalities developed de novo in the unaffected retina of the latter patient while the retinopathy in the fellow eye progressed. Retinal microvascular abnormalities and their sequelae developed de novo in both eyes in 2 more patients. In addition to the radiation, other confounding factors known to be associated with microvascular retinopathy (uveitis, inadequately controlled systemic hypertension, and borderline blood glucose levels) were identified among the 3 patients whose eyes developed new retinal microvascular abnormalities. CONCLUSIONS: Whether the retinal microvascular abnormalities observed in these patients were caused or aggravated by external beam irradiation cannot be precisely ascertained. However, the observed progression and de novo development of retinal microvascular abnormalities within 3 years of orbital radiation raise concern that 0.2 rad (20 Gy) delivered to the orbit in 10 doses of 0.02 rad (2 Gy) may aggravate existing retinal microvascular abnormalities or cause radiation retinopathy in some patients with Graves disease. These findings and the failure of external beam radiation with 0.2 rad (2000 cGy) to favorably affect Graves ophthalmopathy, as demonstrated in a previous study, have led us to discourage further treatment of Graves ophthalmopathy with radiation.

Adult↗
PubMed2002

Major and minor temporal bone abnormalities in children with and without congenital sensorineural hearing loss.

OBJECTIVE: To determine the extent of correlation between sensorineural hearing loss (SNHL) and abnormal temporal bone anatomy in children. DESIGN: Axial and coronal high-resolution computed tomographic scans of the temporal bones of 247 children (494 ears) aged 2 months to 15 years with and without SNHL were blindly reviewed. The presence or absence of mild or severe cochlear dysplasias, vestibular dysplasias, and an enlarged vestibular aqueduct (VA) were recorded. The width of the VA was measured. The height, width, and length of the internal auditory canal (IAC) were measured, and abnormalities were described as narrow, widened, or bulbous. Clinical information was then reviewed to determine the presence or absence of a congenital syndrome and/or SNHL, and historical factors that might be responsible for SNHL. MAIN OUTCOME MEASURE: The relationship between radiographic findings and SNHL. RESULTS: One hundred thirteen patients (185 ears) had SNHL. Significant abnormal temporal bone anatomy in children with vs without SNHL included major cochlear and vestibular dysplasias (17% vs 0%; P<.001), enlarged VA (>2 mm) (5% vs 0%; P<.001), and narrow IAC (< or =2 mm) (4% vs 1%; P=.03). The average IAC width (4.85 vs 5.02 mm), height (4.39 vs 4.62 mm), and length (11.22 vs 11.44 mm) were not statistically different between children with vs without SNHL. In children with vs without SNHL, neither a widened (0.5% vs 3.6%) nor a bulbous (9% vs 8%) IAC was seen more often in children with SNHL. In ears with SNHL, the presence of a congenital syndrome significantly increased the risk of cochlear and vestibular abnormalities of the temporal bone (45% vs 14%; P<.001), including IAC abnormalities (30% vs 2%;P<.001), which overall were more commonly seen in children with (20%) vs without (3%) a congenital syndrome regardless of the presence of SNHL. No children with an enlarged VA had a congenital syndrome. CONCLUSIONS: Well-established temporal bone abnormalities such as cochlear and vestibular abnormalities and a grossly enlarged vestibular aqueduct are significantly found in children with SNHL. A narrow IAC is found more often in children with vs without SNHL. No significant correlation is found between SNHL and radiographic findings of a widened or bulbous IAC. In children with a congenital syndrome, more IAC abnormalities were seen, regardless of the presence of SNHL. In children with SNHL, the presence of a congenital syndrome increases the likelihood of a cochlear or vestibular abnormality.

Adolescent↗
PubMed1987

Demonstration of myenteric plexus abnormalities in genetic diseases by a microdissection technique: preliminary studies.

Eighty-eight specimens of esophagus, small intestine, or colon from 45 patients, predominantly infants and children, with 30 different genetic diseases were analyzed by a microdissection technique for the following abnormalities of the Auerbach (myenteric) plexus: (1) abnormality of the pattern of the nervous network of the plexus, (2) abnormal fraction of neural tissue in the plane of the plexus, (3) abnormal size or appearance of the cytoplasm of the neurons of the plexus, and (4) abnormal number of neurons in the ganglia of the plexus. Seven of 8 specimens of esophagus from patients with neuronal storage diseases (infantile Niemann-Pick disease, Jansky-Bielschowsky disease, etc.) showed an increased fraction of neural tissue in the plane of the plexus, whereas 2 of 3 patients with Cockayne syndrome showed a reduced fraction, with abnormally slender interganglionic fibers. The fraction of neural tissue in the plane of the plexus was also abnormal at one or more levels in patients with adrenoleukodystrophy, ataxia telangiectasia, Krabbe disease, and juvenile metachromatic leukodystrophy. Abnormality of neuron size and cytology was seen in several neuronal lipidoses, including Jansky-Bielschowsky and Sandhoff diseases and juvenile GM2 gangliosidosis, with the most striking neuronal enlargement noted in infantile Niemann-Pick disease. Abnormalities of plexus mass or pattern, as well as those of neuronal cytoplasm and neuron number, offer improved insight into possible mechanisms producing gastrointestinal tract dysfunction (swallowing difficulty, gastroesophageal reflux, constipation, etc) in patients with genetic disorders.

Child↗
PubMed1990

Chromosome abnormalities in older women by maternal age: evaluation of regression-derived rates in chorionic villus biopsy specimens.

Maternal age-specific rates of chromosome abnormalities in women undergoing chorionic villus sampling (CVS) were evaluated. These were rates derived from regression equations of the form rate = ln(b[age] + c) where age varied from 35 to 48 years; and b and c are parameters. For Down syndrome (47, + 21), b = 0.29 and c = -15.53; for other nonmosaic abnormalities, b = 0.25 and c = -14.11; and, for all abnormalities, b = 0.27 and c = -14.22. The predicted rates per 1,000 varied, respectively, from 4.2, 4.6, and 8.8 at age 35 years to 180.0, 120.0, and 300.0 at age 48 years. The predicted numbers of abnormalities were compared with those observed in an overlapping data set reported in the literature. For 47, + 21, the ratio of observed (O) to expected (E) numbers was 54/56.4 = 0.96, suggesting that these rates are at least not grossly erroneous. For non-47, + 21 chromosome abnormalities, the ratio of O to E was 66/51.1 = 1.29. The possibility of geographic variation in rates of non-47, + 21 chromosome abnormalities cannot be dismissed. Finally, if 1) the regression derived rates are correct, 2) there is no difference in selective loss of chromosome abnormalities between younger and older mothers, and 3) the ratio of rates at ages 35 and 40 years to those in the women of all ages are the same for all abnormalities at CVS as for 47, + 21 in live births, then the proportion of all women with viable conceptuses at time of CVS who have an embryo or fetus with cytogenetic abnormality is 3.8-4.4 per 1,000 conceptuses.

Adult↗
PubMed2003

Coronary artery angiography in systemic lupus erythematosus patients with abnormal myocardial perfusion scintigraphy.

OBJECTIVE: According to published studies, 16-82% of systemic lupus erythematosus (SLE) patients have abnormal findings on myocardial perfusion tests, but it has not been established whether these patients also have abnormal findings on coronary angiography. The aim of this study was to evaluate the frequency of abnormal findings on coronary angiography in SLE patients in whom myocardial perfusion scintigraphy revealed abnormalities. METHODS: Ninety female SLE patients (ages 20-55 years, disease duration >5 years, and current or previous steroid treatment for >/=1 year) underwent myocardial perfusion scintigraphy with single-photon-emission computed tomography using (99m)Tc-sestamibi. Images were taken while the patient was at rest and after dipyridamole-induced stress. Myocardial perfusion defects were identified in 30 patients (33%). Twenty-one of these patients (mean +/- SD age 42 +/- 9; mean +/- SD disease duration 132 +/- 66 months) agreed to undergo coronary angiography. RESULTS: Atherosclerotic plaques were identified by angiography in 8 of the 21 patients (38%). The majority of coronary abnormalities were localized in the anterior descending artery. The mean +/- SD number of risk factors for coronary artery disease (CAD) was significantly higher in the subgroup with (4.5 +/- 0.8) compared with the subgroup without (2.5 +/- 1.9) abnormal angiographic findings (P = 0.006). Arterial hypertension and postmenopause status were significantly associated with abnormal angiographic findings. Of the patients with at least 4 risk factors for CAD, coronary stenosis was present in 67% (P = 0.005). The number of American College of Rheumatology (ACR) criteria for SLE and scores on the SLE Disease Activity Index and the Systemic Lupus International Collaborating Clinics/ACR damage index were also higher in the subgroup with coronary stenosis (P < 0.05). CONCLUSION: This is the first study to examine coronary angiography results in SLE patients with abnormal findings on myocardial scintigraphy. Our data suggest that myocardial scintigraphy can be used to screen SLE patients and that all patients with abnormal findings plus at least 4 risk factors for CAD should undergo coronary angiography.

Adult↗
PubMed1990

Outcome of surgery for non-palpable mammographic abnormalities.

Four hundred and ninety-three women underwent 515 localization biopsies for non-palpable mammographic abnormalities. The mammographic abnormality was located with a hooked wire in 509 cases. Specimen radiology was performed on all excised tissue. The mammographic abnormality was visualized in the first piece of tissue excised in 402 (78.1 per cent) cases and complete excision was achieved in 476 (92.4 per cent). A palpable nodule was removed in 38 (7.4 per cent) cases and in 17 (44.7 per cent) was shown to contain a carcinoma. The mammographic abnormality was missed in 14 (2.7 per cent) cases or only partly excised in 13 (2.5 per cent). Overall 144 (28.0 per cent) localization biopsies were malignant. The mammographic abnormality was not visualized on the specimen radiograph more frequently in women aged under 55 years, in women with dense breast (Wolfe grade DM or DY) or in those whose mammographic abnormality contained only microcalcification. The 27 women in whom the mammographic abnormality was not visible on the specimen radiograph underwent repeat mammography 2 months later. Only two women required a further localization biopsy and the mammographic abnormality was recovered in the first piece of tissue excised. Women with a carcinoma underwent mastectomy or wide local excision, and residual carcinoma at the localization biopsy site was found in 64 (44.4 per cent) cases. Oestrogen receptor analysis by ligand binding assay was possible in only 71 (49.3 per cent) carcinomas. If the specimen radiograph does not show the mammographic abnormality within pieces of tissue excised and there is no palpable nodule it may be best to conclude the biopsy. In this series these missed lesions were usually benign. Only rarely is a second localization biopsy required and this is performed without difficulty.

Adult↗
PubMed1996

High prevalence of repolarization abnormalities in children with simple ventricular ectopy.

BACKGROUND: Premature ventricular contractions (PVCs) may occur in 0.3 to 2.2% of routine resting electrocardiograms (ECGs) in children with structurally normal hearts. HYPOTHESIS: This study tests the hypothesis that repolarization abnormalities are present more frequently on the surface ECG in pediatric patients with benign ventricular ectopy. METHODS: A retrospective study was performed examining 32 children with benign ventricular ectopy and structurally normal hearts. The surface ECG was carefully reviewed, concentrating on repolarization abnormalities as evidenced by a prolonged QTc, a prolonged JTc, and/or an abnormal T-wave vector. QTc was calculated using Bazett's formula and considered prolonged if > 440 ms, and the JTc was calculated using a formula analogous to Bazett's formula and considered prolonged if > 340 ms. The T-wave vector was considered normal if between 0 to +90 degrees, concordant with the frontal QRS axis and within 60 degrees of the QRS axis. There were 13 females (41%) and 19 males (59%) with an average age of 9.1 years (range 1-16.1 years). These patients were then compared with age- and gender-matched controls. Fourteen of 32 study patients (44%) and 2 of 32 controls (6%) had evidence of repolarization abnormalities. RESULTS: Using chi 2 analysis, there was a significant difference between groups (p = 0.0005). No patient had an abnormal T-wave vector and there were no other significant ECG abnormalities. There was no significant relationship between repolarization abnormalities and patient gender or age. CONCLUSION: A significant percentage (44%; P = 0.0005) of children with benign ventricular ectopy have associated repolarization abnormalities as evidenced by a prolonged QTc and/or JTc. This finding suggests that children with "benign PVCs" may have repolarization changes indicative of underlying substrate abnormalities.

Adolescent↗
PubMed1998

Left atrial abnormality by electrocardiogram predicts left ventricular hypertrophy by echocardiography in the presence of right bundle-branch block.

BACKGROUND: Left ventricular hypertrophy (LVH) on the electrocardiogram (ECG) may be masked in the presence of complete right bundle-branch block (RBBB). Left bundle-branch block on the ECG is associated with LVH at autopsy in 93% of hearts studied. However, RBBB does not predict LVH and the usual ECG criteria applied for LVH may not be reliable in the presence of RBBB. HYPOTHESIS: The study was undertaken to evaluate left atrial (LA) abnormality as a criterion for the diagnosis of LVH in the presence of RBBB. METHODS: Left atrial abnormality in the ECG was assessed by two independent observers as a criterion of LVH in the presence of RBBB in 100 patients, and data were compared with those of 50 patients without LA abnormality. RESULTS: Left ventricular hypertrophy was confirmed by echocardiographic determination of left ventricular (LV) mass in both groups. Observers reliably differentiated between hypertrophied and normal-sized LV in the presence of RBBB by using LA abnormality as an ECG criterion when correlated with LV mass determined by echocardiography. Observer 1 correctly detected LVH in 88% and Observer 2 in 82% of patients. False positive diagnosis was made in 12 and 18% of patients by Observers 1 and 2, respectively. Observers' performance of recognition of LA abnormality in the present study was 94%. Results showed sensitivity of 76 and 70% and specificity of 84 and 92% for Observers 1 and 2, respectively. Left ventricular mass increased significantly and was diagnostic of LVH in 92% of patients with LA abnormality. Left ventricular mass was high in 84% of patients when corrected by body surface area. LVH in the presence of RBBB by the ECG was found in only seven patients (5%) when six commonly used conventional criteria of diagnosis of LVH by ECG were employed. Regression analysis found LA abnormality to be a strong independent predictor of increased LV mass. Multiple regression analysis revealed that age, body mass index, body surface area, and frontal axis are also significant predictors of LV mass. CONCLUSION: The results obtained by the correlation of LA abnormality by ECG and LVH by echocardiography conclude that LA abnormality by ECG was significantly diagnostic of LV hypertrophy in the presence of RBBB.

Adolescent↗
PubMed2003

Numerical abnormalities of chromosomes 17 and 18 in sporadic colorectal cancer: Incidence and correlation with clinical and biological findings and the prognosis of the disease.

BACKGROUND: In recent years important information has accumulated on the genetic alterations present in colorectal tumors. However, thus far few studies have analyzed the impact of numerical abnormalities of chromosomes 17 and 18, which carry the p53 and DCC plus SHAD4/DPC4 genes involved in colorectal cancer, on the clinical and biological behaviors of the disease. METHODS: With the use of interphase fluorescence in situ hybridization (FISH), we analyzed the incidence of numerical abnormalities of chromosomes 17 and 18 in a series of malignant colorectal tumors and explored its potential association with clinicobiological behavior and the prognosis of the disease. For this purpose, 94 consecutive patients newly diagnosed with colorectal cancer were analyzed. In all cases, FISH analyses of the number of copies and nuclei of chromosomes 17 and 18 were performed in interphase nuclei with the use of double stainings. For all patients, information on age, sex, tumor size, Dukes' stage, tumor localization, DNA ploidy status, and the proportion of S-phase tumor cells was recorded. Median follow-up was 38 months. RESULTS: Numerical abnormalities of chromosomes 17 and 18 were present in most patients with colorectal cancer (57% and 52%, respectively). Gains of chromosome 17 and monosomy 18 were found in 51% and 29% of cases, respectively, and they were the most frequent individual abnormalities for each chromosome. The simultaneous analysis of the number of copies of both chromosomes in the same cell showed that, in most cases displaying numerical abnormalities for these chromosomes, two or more different tumor cell clones were present. From a clinical point of view, numerical abnormalities of chromosome 17, especially monosomy 17, were associated with a significantly higher incidence of rectal tumors (P = 0.001) and Dukes' stage D (P = 0.02) and a lower median of disease-free survival among patients who underwent curative surgery (P = 0.05), as compared with diploid cases. In addition, cases with an altered number of copies of chromosome 17 showed a higher incidence of DNA aneuploidy (P = 0.0001) and a greater proportion of S-phase cells (P = 0.001) by flow cytometry. In contrast, no clear association was found between the presence of numerical abnormalities of chromosome 18 and clinicobiological disease characteristics, except for a higher incidence of DNA aneuploidy by flow cytometry (P = 0.001) and a lower median of disease-free survival (P = 0.06). Multivariate analysis showed that numerical abnormalities of chromosome 17, but not of chromosome 18, are an independent prognostic factor for predicting disease-free survival in patients with colorectal cancer. CONCLUSIONS: Numerical abnormalities of chromosomes 17 and 18 were relatively common findings in patients with colorectal cancer, with chromosome 17 being associated with a higher incidence of tumors localized to the rectum and a worse clinical outcome. Cytometry Part B (Clin. Cytometry) 51B:14-20, 2003.

Adult↗