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At least 847 records · Page 47Linked to original sources
PubMed1997

[T-cell repertoire reconstitution after allogeneic bone marrow transplantation: diversity and origin].

Following bone marrow transplantation, the T cell repertoire contains multiple abnormalities. Although such abnormalities might be expected during the first months post-graft, several patients still present repertoire alterations years after transplantation. In this context recent studies have confirmed in humans the importance of a post-natal thymic dependent pathway of T-cell regeneration. This pathway, whose importance may decrease with passing time, must be taken into account to understand the fate of the T cell repertoire post-transplantation. It may also have clinical implications: optimal graft material may be different for a child or an adult recipient.

Adult↗
PubMed2002

Bilateral preaxial polydactyly: a possible dominant inheritant.

We described families with the preaxial polydactyly in bilateral hands and feet. An analysis of their pedigree strongly suggested that the polydactyly was controlled under the autosomal dominant inheritance. Despite multiple abnormalities, surgical outcomes were quite satisfactory. These cases would be useful for antenatal diagnoses and counseling.

Cesarean Section↗
PubMed1999

Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients.

Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder characterised by degeneration of upper and lower motor neurons. Whilst the primary pathogenic trigger is unknown in most cases, evidence is mounting to implicate a role for glutamate-mediated neurotoxicity in the disorder. Recent studies have shown reduced levels of the mainly astroglial glutamate transporter EAAT2 in ALS motor cortex and spinal cord and multiple abnormal EAAT2 mRNA species in ALS brain tissue. One cause of the low EAAT2 levels may be that point mutations in the EAAT2 gene, EAAT2, result in an abnormal unstable protein. To test this hypothesis we analysed EAAT2 in 128 sporadic and 23 familial European ALS cases. No variants within the coding sequence of EAAT2 to affect the protein sequence nor in the consensus splice sites of the flanking intronic sequences were found in any cases, similar to findings in other reports. Frequent polymorphisms within the flanking intronic sequences of both exons 2 and 4 were seen but at similar frequencies in controls. Mechanisms other than mutations within the coding region of EAAT2 must therefore be responsible for the low levels of EAAT2 seen in most cases of ALS.

Amyotrophic Lateral Sclerosis↗
PubMed2002

Two uncoupling protein genes of rice (Oryza sativa L.): molecular study reveals the defects in the pre-mRNA processing for the heat-generating proteins of the subtropical cereal.

The recent finding of uncoupling proteins (UCPs) in plants has demonstrated that plant mitochondria contain at least two distinct types of potential heat-generating protein, i.e. uncoupling proteins (UCPs) and alternative oxidases. In this study, we isolated and characterized two rice genes encoding UCPs with the aim of improving cold tolerance of rice through the modification of UCP expression. The two rice nuclear genes, OsUCP1 and OsUCP2, appeared to encode functional UCPs, as far as the amino acid sequences of the gene products showed. However, our study revealed that the processing of the pre-mRNAs of both genes was defective. The defects in the pre-mRNA processing resulted in multiple abnormal forms of the transcripts, whose translation products seemed not to retain normal UCP activities. No OsUCP cDNA clones corresponding to the normal transcripts were detected in our study. A northern analysis, on the other hand, revealed that neither of the OsUCP genes exhibited cold-enhanced expression, whereas the gene expression for an alternative oxidase was strikingly enhanced in cold-treated leaves of rice. Our present data thus indicate that rice leaves, placed in cold environments, do not express functional UCPs.

Alternative Splicing↗
PubMed2003

A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

UNLABELLED: We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. CONCLUSION: This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.

Abnormalities, Multiple↗
PubMed2001

Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories.

Females with balanced X-autosome translocations are a clinically heterogeneous group of patients in which X breakpoint position and replication behaviour may influence phenotypic outcome. This study reviewed all cases reported by UK cytogenetics laboratories over a 15-year period (1983-1997). Publication bias was avoided by reviewing all reported cases. One hundred and four female carriers were identified, 62 of who were probands. By reason for referral, these were: multiple congenital abnormalities and/or developmental delay (MCA/DD): 26 (42%); gonadal dysfunction: 22 (35%); phenotypically normal with or without recurrent miscarriage (NRM): 9 (15%); recognized X-linked syndrome: 5 (8%). The information obtained was compared with published data and with data from the authors' own laboratories of female patients with balanced autosome-autosome translocations (n=115). We concluded that: (1) MCA/DD cases were significantly over-represented compared to previous published data (P<0.005) and were more common than in female probands with balanced autosome-autosome translocations (P<0.05). (2) MCA/DD cases showed random breakpoint distribution along the X chromosome (P>0.05). MCA/DD cases with subtelomeric breakpoints at Xp22 or Xq28 were not always associated with deviation from the expected pattern of X-inactivation where this was known. De novo cases were significantly more likely to be assigned as MCA/DD than any other category (P<0.005). (3) Gonadal dysfunction (GD) was invariably associated with a 'critical region' breakpoint, Xq13-q26, (20/22 probands). However, 7/44 (16%) of patients surveyed had breakpoints within Xq13-Xq26 and proven fertility. (4) Recognized 'X-linked syndrome' cases were significantly under-represented (P<0.001) compared to previous published data.

Abnormalities, Multiple↗
PubMed2003

Nitrosative stress in early Type 1 diabetes. David H. P. Streeten Memorial Lecture.

Although hyperglycemia has been shown to cause peripheral nerve dysfunction in patients with diabetes, the biochemical mechanisms for this effect are poorly understood. The excessive production of reactive oxygen species and reactive nitrogen species has been proven to be detrimental in experimental diabetes, but there is little evidence that these metabolic events take place clinically and are physiologically important in man. To assess this we measured nitrite and nitrate (indices of nitric oxide production), nitrotyrosine (an index of peroxynitrite), 8-isoprostaglandin F-2 alpha, an isoprostane reflective of oxidative stress and lipid peroxidation, and uric acid, an index of antioxidant defense in patients with recently diagnosed Type 1 diabetes and aged-matched controls. The diabetic patients were followed for three years. We documented the overproduction of nitric oxide and increased lipid peroxidation in early diabetes and showed these changes had detectable adverse effects on peripheral nerve function especially sympathetic sudomotor nerves. We documented the suppression of uric acid and showed this was associated with multiple abnormalities in autonomic function. In addition, we present indirect evidence that overproduction of reactive oxygen species and reactive nitrogen species have adverse effects on beta cell function and blood pressure.

Adolescent↗
PubMed2006

Acetylcholinesterase inhibition and gill lesions in Rasbora caverii, an indigenous fish inhabiting rice field associated waterbodies in Sri Lanka.

The present study was aimed at applying condition factor (CF), brain acetylcholinesterase (AChE) and gill histology as biomarkers for detecting possible exposure/effect induced by pesticides in fish residing rice field associated waterbodies in Sri Lanka. Biomarkers of an indigenous fish, Rasbora caverii collected from five sampling sites including canals near rice fields, a river and a reservoir (the reference site) were evaluated at four sampling stages covering pesticide application periods during rice cultivation season in 2004. Results indicated that CF of the fish did not show significant alterations regardless of the sampling sites or sampling stages. Site specific differences in AChE activities of the fish were not evident either prior to application of pesticides or at 7 days after Paraquat application to the rice fields. Two days after the application of a mixture of Fenthion and Phenthoate to the rice fields, AChE activity of the fish collected from canals near rice fields was significantly depressed (65-75%) compared to the fish in the reference site. The activities remain depressed to 50-56% even at 65 days after the insecticides application. Laboratory studies showed that prior exposure of R. caverii to Paraquat (2 microg l(-1), 7 days) enhanced the extent of inhibition of brain AChE activity induced by Fenthion (3 microg l(-1)) or a mixture of Fenthion (3 microg l(-1)) and Phenthoate (5 microg l(-1)). Gills of fish collected from canals near rice fields exhibited abnormal multiple divisions at the tips of some secondary lamellae in addition to hyperplasia, hypertrophy and club shaped deformities. Results indicate that application of pesticides in rice culture could manifest a threat to native fish populations residing rice field associated waterbodies. The response of brain AChE and histological changes in the gills of R. caverii allowed differentiating sampling sites after insecticide applications to the rice fields. Hence, R. caverii may be considered as a surrogate species in ecotoxicological risk evaluation of agrochemicals in the region.

Acetylcholinesterase↗
PubMed2004

Adverse respiratory reactions to aspirin and nonsteroidal anti-inflammatory drugs.

Aspirin-exacerbated respiratory disease (AERD) is an adult-onset condition that manifests as asthma, rhinosinusitis/nasal polyps, and sensitivity to aspirin and other cyclooxygenase-1 (COX-1)-inhibitor nonsteroidal anti-inflammatory drugs (NSAIDs). There is no cross-sensitivity to highly selective COX-2 inhibitors. AERD is chronic and does not improve with avoidance of COX-1 inhibitors. The diagnosis of AERD is made through provocative challenge testing. Following a positive aspirin challenge, patients can be desensitized to aspirin and NSAIDs. The desensitized state can be maintained indefinitely with continued daily administration. After desensitization, there is an approximately 48-hour refractory period to adverse effects from aspirin. The pathogenesis of AERD remains unknown, but these patients have been shown to have multiple abnormalities in arachidonic acid metabolism and in cysteinyl leukotriene 1 receptors. AERD patients can take up to 650 mg of acetaminophen for analgesic or antipyretic relief. Patients can also use weak COX-1 inhibitors, such as sodium salicylate or choline magnesium trisalicylate. Treatment of AERD patients with antileukotriene medications has been helpful but not preferential when compared with non-AERD patients. An alternative treatment for many AERD patients is aspirin desensitization. This is particularly effective in reducing upper-airway mucosal congestion, nasal polyp formation, and systemic steroids.

Adult↗
PubMed2006

Dysfunction of bladder urothelium and bladder urothelial cells in interstitial cystitis.

The human bladder urothelium (BU) and bladder urothelial cells (BUCs) play an important role in the normal functioning of bladder including bladder storage. Current evidence in interstitial cystitis (IC) supports multiple abnormalities in bladder urothelial physiology. These data have come primarily from human studies. The discovery of a novel protein termed the antiproliferative factor (APF) uniquely expressed by IC BUCs is extremely important. APF induces increased permeability of normal BUCs grown in culture. Furthermore, APF regulates expression of other cytokines, including upregulating heparin-binding epidermal growth factor-like growth factor and downregulating epidermal growth factor by BUCs. These cytokine abnormalities were also related to increases in purinergic (adenosine triphosphate) signaling, which could mediate increased bladder sensation. Recent studies of uroplakins, which are specialized proteins expressed only in the apical urothelial cells, suggest that uroplakins play a role in the barrier function of the BU. It is also conceivable that alterations in uroplakins may result in bladder symptoms related to increased permeability or decreased protective function. As the body of knowledge about BU and BUC function increases, novel therapies targeting urothelial cells should become clinically feasible.

Cell Communication↗
PubMed1994

Left ventricular systolic function in middle-aged patients with diabetes mellitus.

In cross-sectional studies of asymptomatic diabetic patients, multiple abnormalities in left ventricular (LV) function have been found. Long-term significance of these abnormalities is unknown because follow-up studies have not been previously performed. LV ejection fraction (EF) by radionuclide angiocardiography was examined in middle-aged control subjects (n = 44), in patients with insulin-dependent (IDDM) (n = 32) and non-insulin-dependent (NIDDM) (n = 32) diabetes mellitus at baseline and after 4-year follow-up. At baseline, all study subjects were free from cardiovascular disease. LVEF at rest did not differ between the groups at baseline. The decrease in LVEF at rest during follow-up was 1.1 +/- 1.1% (mean +/- SEM) in control subjects, 3.1 +/- 1.3% (p = NS, compared with control subjects) in patients with IDDM, and 7.2 +/- 1.4% (p < 0.01) in patients with NIDDM. At follow-up examination, abnormally low LVEF at rest (< 50%) was found in 7% of control subjects, 13% of patients with IDDM (p = NS), and in 31% of patients with NIDDM (p < 0.05). Compared with control subjects, the prevalence of an abnormal LVEF response to exercise (an increase by < 5%, or a decrease) was higher in diabetic groups at both examinations. This prevalence increased in control subjects from 10% at baseline to 26% at follow-up examination.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1972

A case of cyclopia.

Explore the source record for details and available documents.

Abnormalities, Drug-Induced↗
PubMed1996

Coronary artery aneurysm associated with adult supravalvular aortic stenosis.

Two patients, aged 20 and 21 years, with supravalvular aortic stenosis and aneurysms of the coronary arteries are described. In supravalvular aortic stenosis, dilatation of the sinuses of Valsalva and multiple abnormalities of one or both coronary arteries are common. Aneurysm of coronary artery has not been well recognized as a lesion associated with supravalvular aortic stenosis. The operation in these patients was limited to relief of the supravalvular obstruction.

Adult↗
PubMed1984

Sirenomelia ('mermaid').

A case of sireniform malformation in a 17-wk-old fetus is described. In addition to the characteristic fusion of the lower limbs, there were also severe malformations of the urogenital system and lower intestinal tract. The essential features and various theories of genesis are discussed. The cases so far described in literature are reviewed. Ultrasound can be very useful in early detection of this deformity, because defective movements of the single lower limb and the typical medial position of the fibulae can be seen.

Abnormalities, Multiple↗
PubMed1992

Flow cytometric analysis of cytokinetics of L3-acute lymphoblastic leukemia/lymphoma.

Cell kinetic differences have been described between acute lymphoblastic leukemia with L1 and L2 morphology. We now report cytokinetic and DNA ploidy findings of the rare L3 B-cell leukemia/lymphoma. Flow cytometry analysis of nineteen samples was performed by simultaneous DNA-RNA staining with acridine orange. RNA and DNA indices and cell cycle distributions were calculated. The RNA-index of the G0/G1 cells was 17.9 +/- 8.7 and the number of cells in S phase and S + G2M were 21 +/- 10.6 and 28.0 +/- 13.9 percent respectively. DNA aneuploidy was found in 6/19 (31.6%) and in two cases multiple aneuploid cell lines were observed. DNA aneuploidy and multiple abnormal stemlines adversely affected survival (p less than 0.05), while kinetic parameters did not affect survival (p greater than 0.05). The cytokinetic data are significantly different (S phase and RNA-I; p less than 0.001) than previously reported for the L1 and L2 ALL. Abnormal DNA stemlines were found in cases with no detected cytogenetic abnormalities. This study confirms that L3 ALL is characterized by significantly increased proliferation and provides a means for a flow cytometric identification of this subtype as compared to L1 and L2 ALL.

Adult↗
PubMed1995

Long-term consequences of prenatal cocaine exposure on biogenic amines in the brains of mice: the role of sex.

Prenatal cocaine exposure leads to multiple abnormalities in the mature offspring. We explored the effects of gestational exposure to cocaine on neurotransmitter systems of adult mice. The subjects were the mature offspring of mice (a) prenatally fed cocaine between gestational day (G) 8 and G19, (b) pair-fed chow and water, or fed chow and water ad libitum. The forebrains of the mature offspring were assayed for monoamines and amino acids. Cocaine exposure particularly affected the dopaminergic system and in a sex-specific manner. In males dopamine concentrations were decreased and dopamine turnover was increased, whereas in females dopamine concentrations were increased and turnover was decreased. Neither norepinephrine, the serotonergic system, nor neuroactive amino acids (or their precursors) were affected by cocaine. Thus, in utero exposure to cocaine produces long-lasting, specific defects in the dopaminergic system.

Amino Acids↗
PubMed1985

Congenital absence of the scaphoid in the "VATER" association.

A rare carpal anomaly is reported in a patient with multiple congenital abnormalities. A literature search reveals few such cases, but a characteristic clinical picture emerges. Patients with this deformity should be carefully examined to exclude other congenital abnormalities.

Abnormalities, Multiple↗