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At least 127 records · Page 7Linked to original sources
PubMed1983

Ocular bobbing: abnormal eye movement or eye movement's abnormality?

Ocular bobbing is classified as an abnormal eye movement, resulting from pathological neuronal activity of the brain stem after bilateral pontine lesions. Clinical oculographic study of 5 patients suffering from ocular bobbing shows that upwards voluntary eye movements are abnormal. We suggest that ocular bobbing should not to be regarded as an abnormal eye movement, but, rather, as the only residual movement of patients which are totally deprived of both horizontal and upward movements.

Arterial Occlusive Diseases↗
PubMed1989

The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes.

We report the results of an ongoing survey of rates of spontaneous death of fetuses with chromosome abnormalities detected at second-trimester amniocentesis in which the mother did not elect abortion. Estimated excess risks (and conservative 90% confidence intervals) of spontaneous fetal death for various cytogenetic abnormalities are as follows: 47,+21, 25.6% (18.0%-34.0%); 47,+18, 63.8% (49.3%-79.8%); 47,+13, 36.5% (11%-69.7%); 45,X, 65.3% (41.0%-84.2%); and mosaic 45,X/46,XX, 10.8% (1.0%-26.8%). There is little evidence for an excess risk of fetal death, at least following amniocentesis, for 47,XXX, 47,XXY, or 47,XYY. The excess risks of fetal death were adjusted for the likelihood that a fetus of normal karyotype would undergo spontaneous fetal death in a population of older maternal age similar to that in which prenatal cytogenetic diagnosis is undertaken. The absolute fetal death rates when this factor is ignored are about 3.5% higher (i.e., may be derived by adding 3.5% to the values given). The excess risks are those which are most appropriate for use in estimating the contribution of chromosome abnormalities to spontaneous fetal death.

Adult↗
PubMed1983

Abnormal glucose tolerance and lipid abnormalities in Indian myocardial infarct survivors.

Glucose tolerance and lipid levels in a random sample of 103 Indian patients (96 males and 7 females) with coronary artery disease (CAD) aged between 20 and 55 years were compared with those in a healthy Indian control group matched as regards age and sex. Previous episodes of myocardial infarction were taken as evidence of CAD. Of the patients 44% were overweight. Glucose tolerance was abnormal in 55% of the patients. Both cholesterol and triglyceride values in the patients with CAD were significantly higher than those in the control group. Serum cholesterol levels were over 6,5 mmol/l in 62% of the patients with CAD and serum triglyceride levels were over 2,0 mmol/l in .53%. Males with CAD tended to have lower plasma high-density lipoprotein (HDL) cholesterol levels than the control group (P less than 0,01). There was a significant negative correlation between body mass index and HDL cholesterol, and no correlation was demonstrated between body mass index and total cholesterol or triglyceride levels. Furthermore, when the patients were sub-grouped according to their glucose tolerances it was found that only the triglyceride levels were significantly different (values were higher in those with abnormal glucose tolerance). Our data suggest that abnormal glucose tolerance and lipid aberrations are significant risk factors in Indian patients with CAD.

Adult↗
PubMed1993

Abnormal aorta and iliac arteries in children with urogenital abnormalities.

Retroiliac ureters have been found in association with a variety of urogenital abnormalities but the iliac artery usually retains a retroperitoneal position. We report 7 children with various urogenital abnormalities (cloacal malformation 4, bladder agenesis 1, urogenital sinus 1, neuropathic bladder 1) in whom the lower aorta and iliac arteries were so distorted as to pose a significant operative hazard. In all cases the distal aorta and/or iliac arteries lay within the peritoneal cavity, often anterior to the bladder. In 3 cases the aorta was fixed by a short ligament to the umbilicus, and in 3 patients one of the iliac arteries ran across the pelvis behind the pubic bones before entering the leg. In one patient an anomalous iliac artery was inadvertently divided during reconstruction of a cloaca; when recognized, the vessel was rejoined. Recognition of an association between urogenital or cloacal malformations and a major vascular anomaly is of great importance to reconstructive surgeons who, if not forewarned, could unintentionally compromise the arterial supply to one or both lower limbs.

Abnormalities, Multiple↗
PubMed2003

Abnormal anterior belly of the digastric muscle: a proposal for the classification of abnormalities.

We recognized an abnormal anterior belly of the digastric muscle in an 83-year-old male cadaver. Three muscle bundles were observed on the left anterior belly: (i) attached to the left digastric fossa; (ii) attached to the right digastric fossa; and (ii) attached to the raphe of the mylohyoid muscle. Four muscle bundles were recognized on the right anterior belly: (i) attached to raphe of the mylohyoid muscle; (ii, iii) attached to the exterior surface on the base of the mandible from the raphe of the mylohyoid muscle; and (iv) attached to the interior surface on the base of the mandible from the raphe of the mylohyoid muscle. The raphe of the mylohyoid muscle was curved significantly to right and the four abnormal bundles found on the right anterior belly (see above) were attached to its curved point.

Aged↗
PubMed2003

Two cases in which an abnormal hemoglobin (Hb Kamakura) was identified on the basis of an abnormally low glycohemoglobin levels.

We encountered two patients with abnormally low glycohemoglobin levels in spite of normal plasma glucose levels. Since the presence of an abnormal hemoglobin was suggested by high-performance liquid chromatography (HPLC), gene analysis of these two patients was conducted by single-strand conformation polymorphism (SSCP) analysis followed by direct sequencing, and Hb Kamakura with one base substitution (beta3 Leu --> Val) in the beta globin gene was detected in both patients. There was been only one report of Hb Kamakura in Kanagawa Prefecture, and our patients represent the second and third cases, respectively.

Adult↗
PubMed1996

Incidence of chromosomal abnormalities in 153 pregnancies with ultrasound detected fetal abnormalities.

One hundred and fifty-three patients with fetal abnormalities diagnosed on ultrasound were karyotyped between January 1992 and December 1993. There were 19 (12.4%) fetuses with chromosomal abnormalities. The risk of chromosomal aberrations in the malformed fetuses were increased in the presence of intrauterine growth retardation (15.4%), oligohydramnios (20%) and polyhydramnios (25%). Fetal karyotyping is thus essential in the management of such pregnancies.

Chromosome Aberrations↗
PubMed2023

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patient and p.(Glu477Lys) (c.1429G>A) identified in the other four patients. Both variants impact conserved amino acid residues. Bioinformatic analysis of each variant is consistent with pathogenicity. We present five unrelated patients with de novo missense variants in ZBTB47 and a phenotype characterized by developmental delay with intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities. We propose that these variants in ZBTB47 are the basis of a new neurodevelopmental disorder.

Child↗
PubMed1998

Disruption of a gene encoding phosphatidic acid phosphatase causes abnormal phenotypes in cell growth and abnormal cytokinesis in Saccharomyces cerevisiae.

Phosphatidic acid phosphatase (PAP) is an enzyme involved in lipid metabolism. Diacylglycerol (DG) and phosphatidic acid (PA) are a substrate and a product of PAP, respectively, and function as second messengers in several signal transduction pathways in animals. To investigate the function of PAP in Saccharomyces cerevisiae, we analyzed changes in cellular phenotypes of a mutant that has a disrupted PAP gene. Two putative genes for PAP (ScPAP1 and ScPAP2) are in the S. cerevisiae genome. We generated a ScPAP1-null mutant and observed its cellular phenotypic changes. The ScPAP1-null mutant cells aggregated in liquid culture, and microscopical analyses showed that these mutant cells have an abnormal cell shape and abnormal cytokinesis during cell division. The ScPAP1 is possibly involved in cell growth and cytokinesis in S. cerevisiae. Yeast phosphatidic acid phosphatase is possibly involved in cell growth and cytokinesis.

Amino Acid Sequence↗
PubMed2005

Developing a questionnaire to measure the psychosocial impact of an abnormal cervical smear result and its subsequent management: the TOMBOLA (Trial of Management of Borderline and Other Low-grade Abnormal Smears) trial.

This paper describes the process of developing and testing a new questionnaire, Process Outcome Specific Measure (POSM), including an assessment of its content validity and reliability. The questionnaire was developed within the context of Trial Of Management of Borderline and Other Low-grade Abnormal smears (TOMBOLA) to assess the psychosocial impact of a low-grade abnormal cervical smear result and the subsequent management. A literature search, focus groups and thorough pre-testing involving experts and patients resulted in a short (15-item), easily completed and understood questionnaire. Questions address issues including cancer, health, fertility and sexual concerns. Repeatability was assessed in 110 TOMBOLA recruits using weighted k; all but one of the questions showed levels of reliability near to, or above, 0.5. Cronbach's standardised alpha was 0.73, indicating acceptable internal consistency. Each POSM item was correlated with the anxiety and depression sub-scales of the Hospital Anxiety Depression Scale (HADS). All except one of the questions correlated more highly with the total POSM score than with the HADS sub-scales thus indicating discriminant validity. The POSM will enable comparison of the alternative management policies for low-grade cervical smears in terms of the benefits (or otherwise) perceived by the women managed by these policies.

Adult↗
PubMed1981

Further observations on sleep abnormalities in Kleine-Levin syndrome: abnormal breathing pattern during sleep.

In two adolescent and two adult patients with Kleine-Levin syndrome, polygraphic sleep recording performed during somnolent and non-somnolent periods revealed various forms of abnormal breathing patterns during sleep. These included periodic breathing and hypopnoeic episodes associated with brief arousals and, in one adult patient, a full blown sleep apnoea syndrome. It is suggested that abnormal breathing in sleep in this syndrome may result from central hypoexcitability.

Adolescent↗
PubMed1991

Abnormal Gs function in mitral valve prolapse dysautonomia is not associated with abnormal alpha S cDNA sequence.

We have previously shown that a subset of patients with mitral valve prolapse and hyperadrenergic symptoms has enhanced isoprenaline-stimulated beta-adrenergic receptor high-affinity state formation (supercoupling) and increased adenylyl cyclase activity due to abnormal signal transduction by the stimulatory guanine nucleotide regulatory protein (Gs). In this study we looked for an alteration of the nucleotide coding sequence of the gene for alpha s, the subunit of Gs that is directly responsible for formation of the high affinity state and adenylyl cyclase activation, by cloning and sequencing the alpha s cDNA from neutrophils of 4 symptomatic patients and 1 control. No difference was observed between patients and control in the alpha s cDNA sequence. The splice variant concentrations in the fully expressed protein were also grossly unchanged in five patients and four controls. These data show that a primary alteration of the alpha s gene coding sequence is not responsible for defective Gs-associated signal transduction in dysautonomic MVP patients, and suggest that the molecular lesion could be an abnormal posttranslational modification of alpha s, a defect in the beta or gamma subunits of Gs, or an unusual interaction between the subunits in the Gs of these patients.

Adenylyl Cyclases↗
PubMed1994

Abnormal metabolism of S-adenosyl-L-methionine in hypoxic rat liver. Similarities to its abnormal metabolism in alcoholic cirrhosis.

S-Adenosylmethionine (AdoMet) is an important biologic methylating agent for nucleic acids, phospholipids, biologic amines, and proteins. Previous studies indicated that hepatic AdoMet synthetase and hepatic levels of AdoMet are subnormal in patients with alcoholic cirrhosis. This abnormality limits the patients' capacity to convert phosphatidylethanolamine to phosphatidylcholine by way of phosphatidylethanolamine-N-methyltransferase (PEMT). Because alcoholic consumption appears to be associated with hepatic hypoxia, we previously measured AdoMet concentration in liver cells under acute hypoxia and found the level to be decreased substantially. In the present study, we determined whether a similar metabolic abnormality was also observed in rats maintained under physiologic hypoxia for 9 days and administered standard rat chow. The study showed that AdoMet levels in hypoxic rat (ave +/- SD) were significantly lower than those in the control (36.8 +/- 11.6 vs. 60.4 +/- 2.3 nmol/g liver; P < 0.05). Also significantly lower in the hypoxic group were the activities of AdoMet synthetase (0.60. +/- 0.07 vs. 0.97 +/- 0.20 U; P < 0.05) and PEMT (26.2 +/- 4.2 vs. 35.6 +/- 5.8 U; P < 0.02). The mRNA levels of AdoMet synthetase also declined in hypoxia indicating that hypoxia may modulate the gene expression of hepatic AdoMet synthetase. Thus, in vivo hypoxia may have an important effect on 1-carbon metabolism.

Animals↗
PubMedDate not supplied

Abnormal heart rate response during newborn sucking behavior study: subsequent sudden infant death syndrome with cardiac conduction abnormality.

This report concerns a four-month-old white female infant who exhibited abnormal feeding behavior and EKG irregularities during a newborn sucking behavior study. The immediate post-birth history showed an irregular heart rate on two occasions, but a cardiac consultation elicited no unusual findings. During sucrose sucking conditions, the heart rate increased with a beat-to-beat variation of 50 beats per minute, noted to be due to premature atrial beats. At 39 days, an EKG showed a marked sinus tachycardia of 156, a PR interval of 0.08, QRS of 0.05 and a QT of 0.26. The infant was diagnosed as a sudden infant death syndrome (SIDS) following an unexpected death at home. Subsequent cardiac pathology revealed an anomalous tract between the right atrium and the atrioventricular (AV) bundle which formed an extensive bypass of the AV node (atrio-His tract), and two accessory AV connections between the left atrium and posterior left ventricle. These findings are consistent with the Wolff-Parkinson-White syndrome type A. Only further studies can determine whether such abnormal feeding behavior with EKG irregularities can be used to identify infants who are at high risk for sudden death.

Arrhythmias, Cardiac↗
PubMed2001

Abnormal heart rate recovery after exercise as a reflection of an abnormal chronotropic response.

Abnormal decline in heart rate (HR) after exercise has been linked to increased cardiac mortality. This study compares the decrease in HR in different patient types, elucidates the relation between the increase and decrease of HR with exercise, and studies the role of beta blockers on the recovery of HR after exercise. One hundred patients with coronary artery disease (CAD), 50 subjects with a very low likelihood of CAD (normals), and 21 postcardiac transplant (Tx) patients underwent Bruce protocols. Peak HR, percent of peak HR achieved, HR reserve percent, and decline in HR at 1, 3, 5, and 8 minutes were obtained for all groups and also for subgroups based on the use of beta blockers. HR recovery at 1, 3, 5, and 8 minutes differed significantly between patients with CAD, normals, and Tx patients. HR recovery at 1, 3, 5, and 8 minutes also differed significantly within the groups (normal and CAD) based on the use of beta blockers. There was highly significant correlation between decrease in HR and peak HR, percent peak HR and HR reserve percent in normal and CAD groups. After correction of the HR recovery for dependence on peak HR and HR reserve percent, the difference in HR recovery between normal and CAD groups was markedly reduced. The difference in the decrease of HR within each group (normal and CAD), based on the use of beta blockers or not, was also markedly reduced. beta blockers have a significant impact on the decrease in HR due to its effect on chronotropism. HR recovery rate is highly dependent on the chronotropic response. Hence, the main portion of the abnormality in HR recovery after exercise can be explained by chronotropic incompetence.

Adrenergic beta-Antagonists↗
PubMed2000

Analysis of human abnormal walking using a multi-body model: joint models for abnormal walking and walking aids to reduce compensatory action.

This paper proposes new models of diseased joints and evaluates the effectiveness of walking aids such as a cane and a brace for compensating for lost functions due to joint disorders. The ZMJ concept described in the previous work (Yamashita and Tagawa, 1988. In: Radharaman (Ed.), Robotics and Factories of the Future'87. Springer, New York, pp. 670-677) is modified into three joint models as follows: a passive element joint (PEJ) which has a spring at the diseased joint; a constrained range joint (CRJ), the motion of which stays within some constrained relative angle; a partial moment joint (PMJ) which can produce a partial amount of the moment produced about the joint in normal walking. A cane can enlarge a supporting area and adjust the posture of the upper torso to be upright. An ischial weight-bearing brace is effective for conservative management of hip disorders by reducing a load to the joint (Shiba et al., 1998. Clinical Orthopaedics and Related Research 351, 149-157). Walking aids like a cane or brace have been conveniently used by the handicapped. Abnormal walking was simulated for each joint model. Dynamic effects of a cane and a brace on abnormal walking were examined by the multi-body walking model.

Ankle Joint↗
PubMed1984

Fourth International Workshop on Chromosomes in Leukemia 1982: Abnormalities of chromosome 7 resulting in monosomy 7 or in deletion of the long arm (7q-): review of translocations, breakpoints, and associated abnormalities.

In summary, of 64 patients with total or partial monosomy 7, 21 cases showed a deletion of 7q, and a translocation resulting in loss of the whole or major portion of 7q was detected in six other cases; a consistent translocation involving chromosomes #7 and #17 was observed in four of the latter cases, resulting in an effective loss of 7q. In 23 of these 27 patients reviewed with loss of 7q, the common segment deleted involved 7q32 to 7q34 (Table). The most common abnormalities associated with -7 or 7q- were -5 or 5q- (26 cases) and monosomy 17 (16 cases); except for two patients, all of the latter also had -5 or 5q-. Fifteen of the 64 patients with -7 or 7q- had a secondary leukemia (23.4%). Other abnormalities, such as complete and partial trisomy 7 and various balanced translocations involving #7, were far less common. Only one of 16 cases had an associated 5q- chromosome, one was -17, and only one case had secondary leukemia.

Acute Disease↗