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At least 883 records · Page 49Linked to original sources
PubMed1998

Interindividual variations in the disomy frequencies of human spermatozoa and their correlation with nuclear maturity as evaluated by aniline blue staining.

OBJECTIVE: To evaluate the importance of interindividual variations in the disomy frequencies of human sperm and their possible correlation with the principal semen parameters. DESIGN: Prospective randomized analysis of sperm nuclei by fluorescence in situ hybridization and analysis of semen parameters. SETTING: University-based laboratory for reproductive biology. PATIENT(S): Fifty-seven human ejaculates selected at random from a population of men undergoing semen analysis. INTERVENTION(S): Semen specimens were analyzed, and sperm samples were prepared for fluorescence in situ hybridization. MAIN OUTCOME MEASURE(S): Semen parameters, including necrozoospermia, global motility, sperm concentration, multiple abnormalities index, and teratozoospermia were evaluated, aniline blue staining was completed, and disomy frequencies for chromosomes 8, 15, 18, X, and Y were determined using fluorescence in situ hybridization. RESULT(S): Noticeable differences in disomy frequencies between individuals were observed, and these frequencies were correlated with the degree of nuclear maturity. CONCLUSION(S): We hypothesize that the positive correlation can be explained by an abnormality of chromosomal segregation at the time of meiosis that would cause disturbances during the transition of nucleoprotein or by one or several premeiotic abnormalities of chromatin that would perturb both the meiotic process and the construction of definitive proteins.

Adult↗
PubMed1998

Physiological analyses of a patient with extreme widening of Virchow-Robin spaces.

We report on a 60-year-old woman with extreme widening of Virchow-Robin spaces who showed neither neurological symptoms nor signs. Magnetic resonance imagings (MRIs) of her brain disclosed multiple abnormalities located along the perforating medullary arteries in the white matter. Central sensory and motor conduction studies (sensory evoked potentials (SEPs) and magnetic stimulation) showed no conduction delays and several modulatory inputs normally influenced the motor and sensory cortical excitability, as expected from clinical features. These physiological analyses confirmed the functional integrity of the central sensory and motor systems, even though imaging studies showed seemingly serious abnormalities.

Brain↗
PubMed1998

Characteristics of young offspring of type 2 diabetic parents in a biracial (black-white) community-based sample: the Bogalusa Heart Study.

The impact of race (black-white) and family history of type 2 diabetes mellitus on metabolic characteristics in early life was examined in a community-based sample from Bogalusa, LA. Study subjects included offspring of type 2 diabetics (n = 53, 47% black) and nondiabetics (n = 52, 40% black), with the mean age of each group ranging from 14.2 to 15.6 years. Offspring were given a 1-hour oral glucose tolerance test. Measures of body fatness such as body weight, body-mass index (BMI; weight/height2), and triceps and subscapular thicknesses were significantly higher only in white offspring of diabetics versus nondiabetics; measures of abdominal fat (waist circumference and waist-to-hip ratio) were significantly higher among offspring of diabetics of both races. Among the measures of glucose homeostasis, basal glucose, insulin, insulin-to-C-peptide ratio (a measure of hepatic insulin extraction), insulin resistance index (derived from basal glucose and insulin levels), and glucose response after glucose challenge were higher in the offspring of diabetics of both races. The differences in insulin-to-C-peptide ratio and glucose response remained significant after adjusting for BMI; further, these two variables were independently associated with parental diabetes in both races. Waist-to-hip ratio, glucose response, C-peptide response (a measure of insulin secretion) were lower, and basal insulin-to-C-peptide ratio and postglucose suppression of free fatty acids greater in blacks versus whites, regardless of status of parental diabetes. Black-white differences in postglucose suppression of free fatty acids disappeared after adjusting for BMI. Thus, blacks and whites with parental type 2 diabetes show multiple abnormalities in parameters governing glucose homeostasis early in life, and some of these traits differ between the races, regardless of status of parental diabetes.

Adolescent↗
PubMed2004

[Reversible postpartum cerebral angiopathy associated with bromocriptine therapy].

BACKGROUND: Postpartum is known to be an important risk factor for stroke. Bromocriptine may induce cerebral angiopathy. CASE DESCRIPTION: We report the case of a 26-year-old postpartum woman who presented with headaches, seizures, hypertension and acute renal failure eight days after the beginning of a treatment with bromocriptine prescribed for lactation suppression. Brain MRI and MR angiogram excluded cortical vein thrombosis and revealed multiple abnormal areas of increased signal in the cortex with segmental arterial narrowings of intracranial vasculitis. The patient completely recovered within one week after drug withdrawal. Biological and radiological abnormalities were also reversible. Following the chronology bromocriptine was most likely responsible for this adverse cerebral and systemic event. CONCLUSION: Clinicians should be aware of bromocripine-related postpartum cerebral angiopathy, a rarely described but serious complication of bromocriptine used to prevent postpartum breast engorgement.

Adult↗
PubMed1999

Clinical course of solitary extramedullary plasmacytoma.

BACKGROUND AND PURPOSE: Solitary extramedullary plasmacytoma (EMP) represents a rare category of malignant disease on which there are limited data in regard to diagnosis, staging and natural history. This study attempted to clarify the clinical course of solitary extramedullary plasmacytoma after radiation or surgical therapy given with curative intent. MATERIALS AND METHODS: The diagnosis was based on a mass of clonal plasma cells separate from bone or bone marrow without evidence of occult disease elsewhere. Between 1963 and 1996, 22 previously untreated patients with an EMP were diagnosed. Disease presented in the head or neck in 86%, usually in the nasal cavity (NC) or maxillary sinus (MS), and in these areas local bone destruction was found in 10 of 11 patients. Among all patients, serum myeloma protein was present in three patients (14%) and Bence Jones protein alone was found in two patients (9%). Radiation therapy was the sole treatment for 18 of 22 patients, and the median radiotherapy dose was 50 Gy (range, 40-60 Gy); five of seven patients with an EMP of oral cavity (OC), oropharynx (OP), nasopharynx (NP), parotid or larynx also received elective neck irradiation. Two patients underwent surgery plus postoperative irradiation of a plasmacytoma of the sigmoid colon or pleura, and two patients had resection alone of a plasmacytoma of the colon or cervical lymph node. RESULTS: Local control was achieved in 21 of 22 patients (95%), and disease never recurred in regional nodes. Disappearance of myeloma protein occurred in three of five patients with an evaluable abnormality. Multiple myeloma developed in seven patients (32%), all within 5 years. The 5-year rate of freedom from progression to multiple myeloma was 56% and the median survival was 9.5 years. CONCLUSION: Radiation therapy achieved excellent locoregional control of EMP with an approximate cure fraction of 50%.

Adult↗
PubMed1999

Cerebral volume asymmetries in schizophrenia and mood disorders: a quantitative magnetic resonance imaging study.

Multiple abnormalities of brain structure have been identified in schizophrenia using in vivo neuroimaging methods, but little is known about the diagnostic specificity of these abnormalities. In a prior study of first-episode schizophrenia we found that this group lacked the normal pattern of cerebral volume asymmetries. Data from that study were combined with data from groups of patients with more chronic schizophrenia, and with bipolar and unipolar mood disorders, to determine the specificity of this abnormality to diagnostic subgroups defined by syndromal status or chronicity. The total sample comprised 235 patients (67 healthy volunteers, 81 patients with mood disorders or schizoaffective disorders, and 87 with schizophrenia or schizophreniform disorders). Asymmetries of regional cerebral volumes were measured on coronal magnetic resonance images with 3.1-mm contiguous slices and nominal in-plane resolution of 1 mm x 1 mm. Asymmetries differed significantly across groups in the occipitoparietal, prefrontal, and temporal regions. These asymmetries, and a composite index of asymmetry across regions ('torque'), all showed the same diagnostic group effect, with the schizophrenia group showing the least normal asymmetry, the mood disorder group intermediate asymmetry, and the control group the most marked asymmetry. No other diagnostic subgroup or chronicity effects were apparent. The findings support a 'continuum' rather than a 'diagnostic specificity' hypothesis, and suggest that the reduction of normal hemispheric asymmetries may mark a neurodevelopmental risk factor for major mental illnesses, and that some syndromal characteristics may be correlated with the degree of deviation from the normal anatomic pattern.

Adolescent↗
PubMed1989

Disseminated ecthymatous herpes varicella-zoster virus infection in patients with acquired immunodeficiency syndrome.

Herpesvirus infections are among the most common and debilitating opportunistic infections in patients with acquired immunodeficiency syndrome (AIDS), and they may have atypical clinical features. We describe the cases of three patients with AIDS in whom atypical persistent ulcerative skin lesions developed as a result of varicella-zoster virus infection. Two patients had disseminated infection without a vesicular stage; one patient had underlying asteatotic eczema. All responded well to acyclovir. One patient was treated with azidothymidine, and typical dermatomal herpes zoster subsequently developed. The profound loss of helper T cell function in AIDS may lead to multiple abnormalities in local immune response to cutaneous herpesvirus infections and may be responsible for the atypical morphology and a prolonged course.

Acquired Immunodeficiency Syndrome↗
PubMed2002

Pig chromosome aberrations after vaccination against classical swine fever in field trials.

Chromosomal aberrations were observed after vaccination against classical swine fever (CSF) in a previous study done on experimental pigs. To determine if the same effect occurs in farm animals, field trials were done with immunized pigs. The cytogenetic analysis was made from lymphocyte cultures of pigs sampled in three farms of Río Cuarto region on six different periods: one, pre-vaccination (control) and in five post-vaccination (days 3, 7, 10, 15 and 22). Vaccine inoculation induced significant increase of cell frequency with chromosomal aberrations from days 3 to 10, when maximal frequencies of 6.78, 10.36 and 7.21% were observed in farms A, B and C, respectively. Afterwards, a decrease was recorded, reaching values not significantly different from controls. Mean frequencies of cells with chromosomal aberrations were 2.8+/-0.3, 5.9+/-0.4, 3.1+/-0.3%, for A, B and C farms, respectively. Cytogenetic effect was clastogenic, being chromosome breaks the first type of alteration to increase from the day 3 post-vaccination onwards, followed by chromatid exchanges and cells with multiple abnormalities. Chromosome pulverization was the last type to show increment, reaching a top value on day 10, after that it started to diminish gradually. There was no difference in the frequency of polyploid cells among sampling dates meaning that this type of alteration would not be induced by vaccination. Results of this field study confirm the mutagenic capacity of live virus vaccines against CSF and indicate that the evolution of chromosome alterations on the five evaluated post-vaccination periods was similar at different environments.

Animals↗
PubMed2000

Effect of aging on T lymphocyte activation.

Studies of the early stages of T-cell activation reveal that T cells from aged mice show multiple abnormalities within the first few minutes after stimulation, including decline in the activation of the Raf-1/MEK/ERK kinases and in JNK protein kinase. Zap-70 kinase associated with the CD3zeta chain shows a 2-fold increase with age in resting CD4 T cells, despite a three-fold decline with age in the levels of tyrosine phosphorylation of CD3zeta; nonetheless, there is no effect of aging on Zap-70 kinase function in activated T cells as measured by in vitro kinase methods. Age-related impairment of the translocation of PKCθ from cytoplasm to the site of T-cell interaction with antigen-presenting cells may underlie downstream defects in the activation cascade.

Aging↗
PubMed1994

1% amino acid peritoneal dialysate: single-cycle study in diabetic patients with end-stage renal disease.

Uremia is associated with multiple abnormalities of carbohydrate and protein metabolism, which are partially corrected by continuous ambulatory peritoneal dialysis with dextrose-based solutions. The hormonal and metabolic effects of amino acid (AA)-based peritoneal dialysis have been studied in nondiabetic uremic patients. Such solutions may be particularly suitable for diabetic patients with end-stage renal disease provided the safety and efficacy of such solutions can be established. We have studied and compared the metabolic and hormonal responses to a single-cycle exchange of dextrose versus a 1% AA-based continuous ambulatory peritoneal dialysis solution in six diabetic patients with end-stage renal disease. In the fasting state and under similar free insulin concentrations, use of the AA solution led to a higher mean glucose concentration (109 +/- 16 mg/dL with dextrose solution v 128 +/- 25 mg/dL with AA solution, P < 0.05). Levels of alanine, lactate, pyruvate, glycerol, non-esterified fatty acids, and triglycerides were similar with the use of either solution. Use of the AA-based solution led to increases in the mean values of the branched chain AAs for the period of the study (valine 131 +/- 10 mumol/L with dextrose solution v 331 +/- 40 mumol/L with AA solution, P < 0.01; leucine 72 +/- 7 mumol/L with dextrose solution v 129 +/- 11 mumol/L with AA solution, P < 0.01; isoleucine 48 +/- 5 mumol/L with dextrose solution v 103 +/- 11 mumol/L with AA solution, P < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1984

Congenital hypoplastic thumb with absent thenar muscles: anomalous digital neurovascular bundle.

Congenital hypoplastic thumb with absent thenar muscles and an associated single midline digital neurovascular bundle is reported in four patients. Several other anomalies localized to the hand were encountered in all patients, including instability of the metacarpophalangeal joint of the thumb and anomalous extrinsic tendons of the involved thumb. Multiple congenital abnormalities were also found in all patients, especially in relation to the spine.

Abnormalities, Multiple↗
PubMed1998

Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that is characterized by selective upper and lower motor neuron degeneration, the pathogenesis of which is unknown. About 60%-70% of sporadic ALS patients have a 30%-95% loss of the astroglial glutamate transporter EAAT2 (excitatory amino acid transporter 2) protein in motor cortex and spinal cord. Loss of EAAT2 leads to increased extracellular glutamate and excitotoxic neuronal degeneration. Multiple abnormal EAAT2 mRNAs, including intron-retention and exon-skipping, have now been identified from the affected areas of ALS patients. The aberrant mRNAs were highly abundant and were found only in neuropathologically affected areas of ALS patients but not in other brain regions. They were found in 65% of sporadic ALS patients but were not found in nonneurologic disease or other disease controls. They were also detectable in the cerebrospinal fluid (CSF) of living ALS patients, early in the disease. In vitro expression studies suggest that proteins translated from these aberrant mRNAs may undergo rapid degradation and/ or produce a dominant negative effect on normal EAAT2 resulting in loss of protein and activity. These findings suggest that the loss of EAAT2 in ALS is due to aberrant mRNA and that these aberrant mRNAs could result from RNA processing errors. Aberrant RNA processing could be important in the pathophysiology of neurodegenerative disease and in excitotoxicity. The presence of these mRNA species in ALS CSF may have diagnostic utility.

Amyotrophic Lateral Sclerosis↗
PubMed2001

An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.

The most common, X-linked, form of chronic granulomatous disease (CGD) is caused by mutations in the CYBB gene located at Xp21.1. The product of this gene is the large subunit of flavocytochrome b558, gp91phox, which forms the catalytic core of the antimicrobial superoxide-generating enzyme, NADPH oxidase. In the overwhelming majority of cases, mutations are family-specific and occur in the exonic regions of the gene, or more rarely at the intron/exon borders. Alternatively, they are large (often multi-gene) deletions. In addition, four mutations have been found in the promoter region. In contrast, very few intronic mutations have been reported. Here we describe an intronic mutation that causes X-linked CGD. A single nucleotide substitution in the middle of intron V creates a novel 5' splice site and results in multiple abnormal mRNA products.

B-Lymphocytes↗
PubMed2003

Epigenetic reprogramming in early embryonic development: effects of in-vitro production and somatic nuclear transfer.

A considerable proportion of offspring, in particular in ruminants and mice, born from nuclear transfer (NT)-derived and in-vitro-produced (IVP) embryos is affected by multiple abnormalities of which a high birthweight and an extended gestation length are the predominant features; a phenomenon that has been called 'large offspring syndrome' (LOS). The underlying mechanisms are largely unknown at present, but alterations of epigenetic modifications of embryonic and fetal gene expression patterns, primarily caused by alterations in DNA methylation are thought to be involved in this syndrome. In mammals, DNA methylation is essential for the regulation of transcription during development and differentiation. This review summarizes results from studies in which mRNA expression patterns from IVP and NT-derived embryos were compared with those of their in-vivo counterparts. Numerous aberrations have been found ranging from suppression of expression to de-novo overexpression or more frequently to a significant up- or down-regulation of a specific gene. These observations emphasize the need for further epigenetic studies during preimplantation embryo development to gain insight into the molecular regulation correlated with an undisturbed embryonic and fetal development. Understanding molecular mechanisms will aid improvements in biotechnologies applied to early embryos in all species, including humans.

Animals↗
PubMed2004

Plasma trace elements, vitamin B12, folate, and homocysteine levels in cirrhotic patients compared to healthy controls.

Increased serum homocysteine (Hcy) can induce liver diseases and can play a remarkable role in hepatic disorders. The purpose of the present study therefore was to investigate the relationship between serum vitamin B(12), folate, zinc and copper, cysteine, and Hcy level differences between cirrhotic patients and healthy subjects. We studied 32 cirrhotic patients (12 females and 20 males) aged 45 +/- 11 years and 32 control subjects (12 females and 20 males) aged 39 +/- 9 years. There was an inverse correlation between Hcy and vitamin B(12) in controls (r = -0.442, p < 0.011) but not in cirrhotic patients (r = -0.147, not significant). Also, mean plasma folate was decreased in cirrhotic patients compared to controls (p < 0.001). Copper increased whereas zinc decreased significantly in cirrhotic patients. A positive correlation was seen between the Cu/Zn ratio and Cu in controls (r = 0.690, p < 0.01), but the correlation between the Cu/Zn ratio and Cu was not significant in the cirrhotic group. Negative correlations were seen between plasma concentration of zinc and the Cu/Zn ratio in controls and cirrhotic patients (r = -0.618, p < 0.01 and r = -0.670, p < 0.01, respectively). Cirrhotic patients displayed multiple abnormalities, including changes in cysteine metabolism and in zinc and copper levels. Although hyperhomocysteinemia is known as an atherogenic and thrombogenic risk factor for cardiovascular disease, it might also be a risk factor for cirrhotic patients. Plasma Hcy, vitamin B(12), and folic acid measurement may be useful in the evaluation of cirrhotic patients.

Adult↗
PubMed1981

Hemodialysis vs. peritoneal dialysis: results of a 3-year prospective controlled study.

A prospective comparison of peritoneal dialysis to hemodialysis was undertaken to identify advantages and disadvantages of either treatment relative to the other. Hematologic, biochemical, lipid, and neurobehavioral parameters were followed. Careful controls were imposed to assure that the treatment groups were comparable. Patients on peritoneal dialysis proved to have more normal concentrations of BUN, hemoglobin, potassium, bicarbonate, and high-density lipoproteins. Hemodialysis patients had more normal concentrations of albumin, total protein, and calcium. Hypertriglyceridemia was only minimally greater in peritoneal patients. Neurobehavioral results documented multiple abnormalities in both. The profile of results obtained provides preliminary criteria for selecting either form of dialysis for a particular patient.

Adult↗