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PubMed1989

Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation.

An 8-year-old female child with mental retardation (MR), multiple congenital anomalies (MCA) and irregular pigmentation was shown to have karyotypic mosaicism involving chromosome 14 abnormalities. Four cell lines were found in both peripheral blood lymphocytes and skin fibroblasts and were represented by: a normal karyotype, an isopseudodicentric 14q [iso psu dic(14)], a ring 14 [r(14)], and a monosomy 14 [mono(14)]. Our results are compared with reported cases involving multiple abnormalities of specific chromosomes. Karyotypic mosaicism of comparable chromosome 14 abnormalities is rare, with only one known previous case. Detailed analysis of karyotypic mosaicism of rare chromosomal abnormalities is essential to determine meaningful correlations with specific patterns of malformation.

Abnormalities, Multiple↗
PubMed1980

Abnormal fetal heart rate associated with congenital abnormalities.

The fetal heart rate (FHR) records obtained from 3140 patients were reviewed. Thirty-seven patients gave birth to an infant with a major congenital abnormality. Fifty-one per cent of this group demonstrated an abnormal FHR in the antepartum or intrapartum period. The Caesarean Section rate was 48 per cent and perinatal mortality was 50 per cent. In patients with an abnormal antepartum FHR record, an underlying congenital abnormality of the fetus should be considered.

Congenital Abnormalities↗
PubMed1981

Genital abnormalities and abnormal semen analyses in male patients exposed to diethylstilbestrol in utero.

Urologic examination of 48 male patients exposed in utero to diethylstilbestrol showed genital abnormalities in 29. Only 33 per cent of the patients studied had normal semen analyses by Eliasson scoring. Genital abnormalities demonstrated included varicoceles, epididymal cysts, hypoplastic testes and undescended testes among others. None of the patients had elevations of alpha-fetoprotein or beta-subunit human chorionic gonadotropin. The high incidence of the aforementioned abnormalities suggests that all male patients exposed to diethylstilbestrol should undergo urologic examination and semen analysis. Additionally, a history of diethylstilbestrol exposure should be sought in all patients with apparent idiopathic infertility.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

A genetic abnormality of cardiac myocytes from the blind mutant (RC) chick heart: abnormalities of cardiac structure and choline transport.

A new genetic cardiomyopathy was identified in a blind mutant avian strain. Cardiac myocytes were cultured from 7-day-old chick embryos from Rhode Island Red chickens and from another strain of this species that has been identified to have several abnormalities, the most striking of which is blindness. Cardiac myocytes were maintained in tissue culture. Morphologically, in culture, the cardiac myocyte from the blind mutant strain assumed a spherical shape and showed abnormalities of sarcolemmal membrane compared to control myocytes from heterozygous animals. Choline uptake and metabolism were examined, using [methyl 3H] choline, because it is a sarcolemmal transport process and choline is metabolised to phosphatidylcholine, an important phospholipid for cellular structure and function. Choline uptake through the active transport process was markedly and significantly reduced in the mutant cells compared to control cells, while choline metabolism to phosphatidylcholine was not significantly altered. These results demonstrate a new abnormality of cardiac myocytes, a cardiomyopathy that can be studied in cell culture and one with abnormalities of cellular choline transport.

Animals↗
PubMed2000

Abnormal bone scans in anterior cruciate ligament deficiency indicate structural and functional abnormalities.

Many patients with anterior cruciate ligament (ACL) deficiency have an abnormal bone scan. This finding has not yet been explained. Suggested explanations include intra-articular (structural) or kinematic (functional) abnormalities. We examined the relationship between bone scintigraphy and cartilage degeneration or meniscal lesions in the ACL-deficient knee in 95 consecutive patients who had bone scintigraphy 1-3 days prior to arthroscopic ACL reconstruction. Intra-articular abnormalities of the knee did not explain all scintigraphic patterns of this study. We did not find clinically useful positive predictive values for scintigraphic patterns considered to indicate cartilage degeneration or a lateral meniscus lesion. A clinically useful positive predictive value was found only for medial meniscus lesions when time since ACL rupture was more than 18 months, and for local cartilage degeneration when markedly increased uptake was seen when time since ACL rupture was more than 4 months. Considering these findings, alternative explanations are discussed, based on specific aspects of abnormal kinematics and adaptive bone metabolism of the ACL-deficient knee.

Adolescent↗
PubMed2025

Polygenic risk scores for rheumatoid arthritis and idiopathic pulmonary fibrosis and associations with RA, interstitial lung abnormalities, and quantitative interstitial abnormalities among smokers.

OBJECTIVE: Genome-wide association studies (GWAS) facilitate construction of polygenic risk scores (PRSs) for rheumatoid arthritis (RA) and idiopathic pulmonary fibrosis (IPF). We investigated associations of RA and IPF PRSs with RA and high-resolution chest computed tomography (HRCT) parenchymal lung abnormalities. METHODS: Participants in COPDGene, a prospective multicenter cohort of current/former smokers, had chest HRCT at study enrollment. Using genome-wide genotyping, RA and IPF PRSs were constructed using GWAS summary statistics. HRCT imaging underwent visual inspection for interstitial lung abnormalities (ILA) and quantitative CT (QCT) analysis using a machine-learning algorithm that quantified percentage of normal lung, interstitial abnormalities, and emphysema. RA was identified through self-report and DMARD use. We investigated associations of RA and IPF PRSs with RA, ILA, and QCT features using multivariable logistic and linear regression. RESULTS: We analyzed 9,230 COPDGene participants (mean age 59.6 years, 46.4 % female, 67.2 % non-Hispanic White, 32.8 % Black/African American). In non-Hispanic White participants, RA PRS was associated with RA diagnosis (OR 1.32 per unit, 95 %CI 1.18-1.49) but not ILA or QCT features. Among non-Hispanic White participants, IPF PRS was associated with ILA (OR 1.88 per unit, 95 %CI 1.52-2.32) and quantitative interstitial abnormalities (adjusted β=+0.50 % per unit, p = 7.3 × 10-8) but not RA. There were no statistically significant associations among Black/African American participants. CONCLUSIONS: RA and IPF PRSs were associated with their intended phenotypes among non-Hispanic White participants but performed poorly among Black/African American participants. PRS may have future application to risk stratify for RA diagnosis among patients with ILD or for ILD among patients with RA.

Humans↗
PubMed2002

Abnormal electroretinogram and abnormal electrooculogram after lightning-induced ocular injury.

PURPOSE: To report a case of abnormal electrooculogram and abnormal electroretinogram after lightning-induced ocular injury. DESIGN: Interventional case report. METHODS: A 39-year-old man was struck on the left forehead by a bolt of lightning. After resuscitation, he regained consciousness. RESULTS: Ophthalmic examination disclosed a best-corrected visual acuity of right eye (RE): 20/25 and left eye (LE): 20/50, burned eyelashes, punctate keratitis, iridocyclitis, anterior subcapsular lens opacity, missing foveolar reflex, and macular pigment epithelial defect LE. Fluorescein angiography revealed only an area of punctate leaking in the left eye. Electrooculogram showed reduced amplitudes, in the left eye. Arden ratio was RE: 2.04 and LE: 1.52. The amplitudes of scotopic and photopic electroretinogram b-waves were reduced in the left eye. After uneventful cataract surgery in the left eye, the follow-up electrooculogram and electroretinogram still showed reduced amplitude in the left eye. CONCLUSION: Lightning is an uncommon cause of ocular injury. This is the first report of abnormal electro-oculogram and abnormal electroretinogram after lightning-induced ocular injury.

Adult↗
PubMed1994

Abnormal endocervical cells. Really abnormal? Really endocervical?

With the increasing incidence of endocervical adenocarcinoma, cytopathologists must distinguish between benign dysplastic and malignant endocervical cells. For this reason, the authors began a retrospective review of 44 cytology specimens initially interpreted as "abnormal endocervical cells of uncertain significance" and of 10 endocervical carcinomas. Cytologic specimens were categorized according to tissue into three groups: reactive cells (9), abnormalities associated with squamous intraepithelial lesions (17 low grade, 18 high grade), and adenocarcinoma (10). Reactive cells were monolayered, with demarcated cytoplasm and bland nuclei. Abnormal cells from squamous intraepithelial lesions showed crowding and irregular nuclei with smudgy or granular chromatin. Cells from adenocarcinoma showed multilayering and nuclei with clumped chromatin and occasional mitoses. On reexamination, numerous cells were found to be of metaplastic rather than endocervical origin. Surprisingly, the presence of abnormal metaplastic or endocervical cells sometimes was the only indicator of associated squamous intraepithelial lesion.

Adenocarcinoma↗
PubMed1996

Comparison between abnormalities in segmental endocardial motion and abnormalities in segmental wall thickening after anterior myocardial infarction. A cine-magnetic resonance study.

In this study, two patterns of regional contract on of the left ventricle have been studied: endocardial motion and wall thickening, in order to check which of these was the most affected after myocardial infarction. The clinical relevance of this comparison was to assess which parameter of the regional contraction abnormality would best depict the severity of the infarction. Long axis cine-magnetic resonance slices were used to assess segmental systolic left ventricular endocardial motion and segmental systolic wall thickening in 39 normal subjects and in 30 patients at the chronic stage of an anterior myocardial infarction. In the group of normal subjects, endocardial motion and wall thickening showed significant regional heterogeneity. Overall endocardial motion was greater than overall wall thickening: 9.5 +/- 2.0 mm vs 7.1 +/- 1.8 mm. P = 4 x 10(-12) (3.1 +/- 1.2 mm vs 2.0 +/- 0.7 mm, P = 9 x 10(-5) after infarction). A significant linear correlation was found between these two parameters. In the infarction group, abnormality scores for endocardial motion and for wall thickening were calculated. These scores were defined as the average values exceeding the mean minus two standard deviations of the normal range for segments corresponding to the antero-septal-apical walls. The abnormality score for endocardial motion greater than the abnormality score for wall thickening: 0.31 +/- 0.12 vs 0.20 +/- 0.07, P = 9 x 10(-4). We conclude that, in clinical practice, endocardial motion is affected to a greater degree by myocardial infarction than is wall thickening and therefore constitutes a more discriminant index in the assessment of post-infarction patients.

Adult↗
PubMed1997

Specific abnormalities in a visual motor psychological test in short children with abnormal growth hormone secretion.

Forty short (< -2 SD) prepubertal children with no organic disease underwent two growth hormone (GH)-stimulation tests, a sleep test and a psychological assessment based on the Rey-Osterrieth figure that was scored for boundary-type errors (defined as non-developmental severe distortions or disrespect of boundaries) by a psychologist who had not met the child. Twenty-three children had normal endocrinological findings and 17 had abnormal GH secretion (4 with complete GH deficiency and 13 with normal GH response to pharmacological stimuli but abnormal nocturnal secretion). Seventeen children had normal results in the Rey-Osterrieth figure test and 23 made boundary-type errors. The biological and psychological analyses agreed in 32 cases, leading to a very significant (p < 0.0005) relation. This study reveals that short children with abnormal GH secretion, particularly low nocturnal secretion, show abnormalities independent of their developmental quotient in a visual motor psychological test.

Body Height↗
PubMed2005

Abnormal vibration induced illusion of movement in essential tremor: evidence for abnormal muscle spindle afferent function.

OBJECTIVES: Vibration induced illusion of movement (VIIM) is abnormal in patients with idiopathic focal dystonia, an abnormality which corrects with fatigue of the vibrated muscle. Since dystonia and essential tremor sometimes coexist in families, we investigated the perception of VIIM and the effect of fatigue on VIIM in patients with essential tremor. METHODS: VIIM in 18 patients with essential tremor was compared with VIIM in 18 healthy control participants before and after volitional fatigue of the vibrated muscles. RESULTS: Vibration of the immobilised biceps produced a subnormal VIIM in patients with essential tremor (12.81 degrees (SEM 2.15)) compared with healthy control subjects (28.55 degrees (1.66)). The perception increased following volitional fatigue of the vibrated arm in patients with essential tremor (16.23 degrees (2.50)) but not in healthy controls (27.55 degrees (1.66)). No difference was observed in patients with alcohol or non-alcohol responsive tremor. CONCLUSIONS: The VIIM decreased with increasing age in healthy control subjects. Abnormal VIIM implies abnormal sensorimotor processing in patients with essential tremor, similar to that found in idiopathic focal dystonia, and the change of the perception with age could explain the age related onset of the disorder.

Afferent Pathways↗
PubMed1997

Additional chromosome abnormalities in transient abnormal myelopoiesis in Down's syndrome patients.

We report a case of transient abnormal myelopoiesis (TAM) with Down's syndrome. As the blast cells had additional chromosome abnormalities (50,XY,+12,+14,+21 x 2), a possibility of acute leukemia was considered from a cytogenetic point of view. But the abnormal clone gradually disappeared without antileukemic therapies. Viewing it together with previous reports of TAM with additional chromosome abnormalities in Down's syndrome babies, its presence does not immediately indicate an aggressive clinical course as in acute leukemia and spontaneous complete hematological remission may be achieved. Thus, a careful follow-up should precede cytogenetic findings helping to determine the therapeutic intervention.

Adult↗
PubMed1991

Body surface distribution of abnormally low QRST areas in patients with left ventricular hypertrophy. An index of repolarization abnormalities.

BACKGROUND: QRST isointegral maps (I-maps) have been useful in detecting repolarization abnormalities. We investigated the body surface distribution of abnormally low QRST areas in patients with left ventricular hypertrophy (LVH) and the relation of the abnormalities in I-map to the severity of LVH as assessed by echocardiography. METHODS AND RESULTS: QRST area departure maps were constructed from electrocardiographic (ECG) data recorded in patients with LVH and precordial negative T waves resulting from aortic stenosis (AS) (10 patients), aortic regurgitation (AR) (12 patients), or hypertrophic cardiomyopathy (HCM) with asymmetric septal hypertrophy (22 patients). Fifty normal subjects served as controls. The I-map was constructed from 87 body surface electrocardiograms recorded simultaneously at a sampling interval of 1 msec. The area where the QRST area was smaller than normal limits (mean -2 SD) was designated the "-2 SD area." The echocardiographic left ventricular (LV) mass was calculated by Devereux's method. Patients with large LV masses due to AS or AR had 2 SD areas located over the left anterior chest or the midanterior chest, respectively. The 2 SD area was located over the left shoulder and left anterior chest and had a lingual shape in patients with HCM. The sum of QRST area values less than the normal range (sigma QRST) was significantly correlated with LV mass in patients with AS or AR (r = 0.83 and r = 0.69, p less than 0.01 and p less than 0.05). However, there was no significant correlation between sigma QRST and the severity of LVH in patients with HCM. sigma QRST divided by the number of electrodes in the 2 SD area was significantly greater in patients with HCM than in those with AS or AR. CONCLUSIONS: These findings suggest that abnormalities in patients with HCM are manifest even in mild LVH and that there is a greater disparity of repolarization in hypertrophied left ventricles due to HCM than in LVH due to aortic valve disease. QRST isointegral departure maps may provide ECG evidence of LV mass of patients with AS or AR and of susceptibility to malignant arrhythmias in patients with HCM.

Aortic Valve Insufficiency↗
PubMed2005

Abnormal parathyroid cell proliferation precedes biochemical abnormalities in a mouse model of primary hyperparathyroidism.

The properties of neoplastic proliferation and hormonal dysregulation are tightly linked in primary hyperparathyroidism (HPT). However, whether abnormal parathyroid proliferation is the cause or result of a shift in calcium-sensitive parathyroid hormonal regulation has been controversial. We addressed this issue by analyzing the temporal sequence of these fundamental abnormalities in a mouse model of primary HPT. These transgenic mice (PTH-D1) harbor a transgene that targets overexpression of the cyclin D1 oncogene to parathyroid cells, resulting in parathyroid hypercellularity with a phenotype of chronic biochemical HPT and, notably, an abnormal in vivo PTH-calcium set point. We examined parathyroid cell proliferation and biochemical alterations in PTH-D1 and control wild-type mice from ages 1-14 months. Strikingly, abnormal parathyroid proliferation regularly preceded dysregulation of the calcium-PTH axis, supporting the concept that disturbed parathyroid proliferation is the crucial primary initiator leading to the development of the biochemical phenotype of HPT. Furthermore, we observed that decreased expression of the calcium-sensing receptor in the parathyroid glands occurs several months before development of biochemical HPT, suggesting that decreased calcium-sensing receptor may not be sufficient to cause PTH dysregulation in this animal model of primary HPT.

Animals↗
PubMed1998

[A study on abnormal chondrocyte differentiation and abnormal expression of collagen types in articular cartilage from patients with Kaschin-Beck disease].

OBJECTIVE: To study the abnormal characteristics of chondrocyte differentiation and abnormal expression of collagen types in articular cartilage from patients with Kaschin kaschin-Beck disease (KBD). METHODS: The abnormal differentiation and expression of collagen types I, II, III, IV and X in articular cartilage from five cases of KBD patients were examined using monoclonal immunohistochemical methods. RESULTS: (1) The expression of tyep II collagen was decreased in the upper zone in KBD articular cartilage. (2) The expression of types I, III and VI collagen were found throughout the articular cartilage, but type X collagen was located in the calcified cartilage zone and around chondrocyte clusters in the deep zone. (3) Chondrocyte clusters exhibited significant pericellular staining for types I, II, III and VI collagen, but did not stain with any collagen antibody in the chondronecrosis areas. CONCLUSION: The abnormal collagen pattern in the articular cartilage of KBD patients was similar to that seen in primary osteoarthritic cartilage, but having more pronounced type I collagen expression in the surface zone and no collagen expression in the chondronecrosis areas.

Adult↗
PubMed1982

Symptomless abnormalities. Minor ECG abnormalities.

The implications of the minor ECG abnormalities that I have dealt with may be categorized as follows. Innocent: 1. Sinus arrhythmia, with or without nodal escape beats 2. Atrial extrasystoles 3. Incomplete right bundle-branch block 4. Parabolic depression of the ST segment in association with a rapid heart rate 5. Elevation of the ST segment in the right precordial leads 6. Positive/negative T waves in the transitional zone. Not necessarily indicating disease: 1. Ventricular indicating disease: 1. Ventricular extrasystoles 2. Complete right bundle-branch block 3. Left anterior or posterior hemiblock 4. Abnormally directed T-wave vectors. Probably indicating disease: 1. Plane or downward-sloping ST depression, at rest or on exercise, of more than 1 mm 2. Pyramidal arrowhead T waves, with or without an abnormally directed T-wave vector 3. Negative/positive T waves in leads facing the left ventricle 4. Inverted U waves. It is clear that careful assessment must be made before minor ECG abnormalities in presumptively normal individuals are accepted as indicators of the presence of heart disease.

Adult↗
PubMed1993

[Abnormal antithrombin III: abnormalities of heparin or protease binding domain].

Two patients with abnormal antithrombin III manifested abnormality in heparin binding activity (abnormal antithrombin III "Toyma") or protease binding activity (abnormal antithrombin III "Aomori"). Antithrombin III "Toyama" is hereditarily homozygous with Arg47 to Cys47 (TGC-->TGT) mutation, and antithrombin III "Aomori" is hereditarily heterozygous with Arg393 to His393 (CGT-->CAT). The former is classified as type II-c, and the latter as type II-b according to Lane's classification2). Both patients showed cerebral thrombosis after age 20. Heparin cofactor II activity in the former case was slightly higher than normal. Oral anticoagulant therapy was used in the both cases. These cases were examined by biological and immunological assay, heparin sepharose column chromatography, binding activity to cultured porcine endothelial cells, restriction fragment length polymorphysm and polymerase chain reaction. The authors developed an antithrombin III assay method to be able to estimate real activity without the influence of heparin cofactor II activity11), and to apply the low molecular weight heparin to prevent relapse of thrombosis, and finally to find an anticoagulant substance in an interesting case of hepatocellular carcinoma (Edmondson type 1) producing normal antithrombin III30).

Adult↗