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Biomedical subjects

A David

Publications and source records attributed to A David.

At least 19 recordsLinked to original sources
PubMed2025

Chromosome-level genome assembly of the Vermilion Snapper (Rhomboplites aurorubens).

Vermilion Snapper (Rhomboplites aurorubens, Lutjanidae) inhabits deep waters (20-300 m) from North America to Brazil and supports significant commercial and recreational fisheries. Despite its economic importance, the understanding of its basic biology remains limited. Classified as Vulnerable on the Red List due to overfishing, populations have declined by over 30% in recent generations. We assembled and annotated the first chromosome-scale genome of this species by combining PacBio long reads, Illumina short reads, and Hi-C data. The resulting assembly is 987.5 Mbp, with a scaffold N50 size of 41.3 Mbp, and includes 135 contigs clustered and ordered onto 24 chromosomes with 34,496 predicted genes. The high-quality assembly and annotation contained about 98% complete and single-copy BUSCO genes. It is the most complete, chromosome-level genome assembly of an Atlantic snapper to date. The genome assembly and supporting data are valuable tools for ecological and comparative genomics studies of snappers and other valuable commercial species within the family.

Chromosomes↗
PubMed1992

Schizophrenia and city life.

Prevalence of schizophrenia and rates of first admission to hospital for this disorder are higher in most modern industrialised cities, and in urban compared with rural areas. The "geographical drift" hypothesis (ie, most schizophrenics tend to drift into city areas because of their illness or its prodrome) has remained largely unchallenged. We have investigated the association between place of upbringing and the incidence of schizophrenia with data from a cohort of 49,191 male Swedish conscripts linked to the Swedish National Register of Psychiatric Care. The incidence of schizophrenia was 1.65 times higher (95% confidence interval 1.19-2.28) among men brought up in cities than in those who had had a rural upbringing. The association persisted despite adjustment for other factors associated with city life such as cannabis use, parental divorce, and family history of psychiatric disorder. This finding cannot be explained by the widely held notion that people with schizophrenia drift into cities at the beginning of their illness. We conclude that undetermined environmental factors found in cities increase the risk of schizophrenia.

Adult↗
PubMed1992

Hypoglossia-hypodactylia syndrome with jejunal atresia in an infant of a diabetic mother.

Despite advances in therapy for maternal diabetes, pregnancies of diabetic women remained at an increased risk of spontaneous abortion or delivery of an infant with major malformation. We report on an infant of a diabetic mother with hypoglossia-hypodactylia associated with complete jejunal atresia. A common pathogenesis for these 2 malformations could be a vascular disruptive mechanism with in utero arterial thrombosis.

Adult↗
PubMed1992

A case of primary non-Hodgkin lymphoma of the pancreas.

Non-Hodgkin pancreatic lymphoma is a rare disease. Its diagnosis is difficult without histological examination. Ultrasonographic, computed tomodensitometric, and endoscopic retrograde cholangio-pancreatographic findings are not pathognomonic. The better prognosis of these tumors, compared to adenocarcinoma, and their sensitivity to chemotherapy, implies the need for pathologic examination of every pancreatic tumor.

Adult↗
PubMed1992

Digito-reno-cerebral syndrome: confirmation of Eronen syndrome.

In 1985, Eronen et al. described a new autosomal recessive syndrome with absence of the distal phalanges of the toes and fingers, renal defect and cerebral anomalies (dilated ventricles or seizures). Two unrelated children affected by this syndrome enable us to accept its autonomy and delineate its nosology. Variability of the expression of the renal and cerebral manifestations is emphasized.

Abnormalities, Multiple↗
PubMed1992

The assessment of insight in psychosis.

An assessment schedule was used to determine the nature of insight in 91 mixed psychotic patients, and to examine its distribution and associations. While all the components of the schedule intercorrelated significantly, scores for compliance were only weakly related to those for ability to label psychotic phenomena as abnormal. Compliance and illness recognition were related to IQ. Total insight score was inversely correlated, moderately, with a global measure of psychopathology derived from the PSE, and was less in patients involuntarily committed. Age, sex, diagnosis, and the number of previous hospital admissions had little effect. The results support the notion that insight is not a unitary concept.

Adult↗
PubMed1992

Plasma neurotransmitter profile during different phases of the ovulatory cycle.

The influence of the different phases of the menstrual cycle on platelet-poor plasma norepinephrine (NE) and serotonin (5HT) was examined in 17 normal volunteers. The examinations were performed consecutively during 3 phases of the ovulatory cycle: 1) follicular phase, 2) ovulation, and 3) luteal phase. This investigation was initiated after a preliminary study in 51 volunteers showed wide and consistent variations of plasma NE and 5HT during the different phases of the cycle. Since in this first group the determinations had not been performed consecutively in the same subjects, and the changes observed in the different phases of the cycle could reflect interpersonal variations, the determinations were performed consecutively in a second group, concomitantly with serum estradiol (E2) and LH measurements. The results showed a decrease in plasma 5HT from the follicular phase [144.3 +/- 69.3 nmol/L (+/- SD)] to ovulation (55.7 +/- 41.4; P less than 0.001) and a subsequent increase in the luteal phase (141.3 +/- 96.4; P less than 0.01). The nadir in plasma 5HT showed an inverse correlation with serum LH (r = -0.07). Plasma NE increased from the follicular phase (1226.5 +/- 475.1 pmol/L) to ovulation (1694.0 +/- 564.4; P = 0.027) and reached a maximum in the luteal phase (2335.0 +/- 728.2; P = 0.0034). This rise correlated positively with serum E2. In conclusion, plasma 5HT and NE vary with the different phases of the menstrual cycle. Plasma NE rises during ovulation and seems to to correlate positively with serum E2 levels. Plasma 5HT reaches a nadir during ovulation and correlates inversely with serum LH.

Adult↗
PubMed1992

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Kabuki make-up (Niikawa-Kuroki) syndrome has been described mainly in Japanese patients. In this paper we report sixteen new cases from Europe and North America, suggesting that Kabuki make-up syndrome may be more common outside of Japan than supposed. Their features are compared with those of the Japanese patients and most of our findings are similar to those previously reported. The facial phenotype is specific and easily recognizable, regardless of ethnic origin. Postnatal growth retardation and mild mental retardation are confirmed to be cardinal manifestations of the syndrome. Skeletal anomalies were present in all cases but most of the radiological changes were non-specific. The specificity of metacarpophalangeal pattern profile is not confirmed. Conversely, dermatoglyphic analysis is helpful in the diagnosis of this condition. Two differences have emerged between the Japanese patients and those in this study. Firstly, two-thirds of the patients in this series had significant neurological dysfunction other than mental retardation. Secondly, joint hypermobility appears more common in non-Japanese patients. Confirmation of these findings requires further studies.

Abnormalities, Multiple↗
PubMed1992

Steroid hormones control on nucleic acid biosynthesis in skeletal muscle.

The medical, agricultural and scientific interest of the muscular tissue is well established in the literature. Its formation and function are essential for survival. It is also known that steroid hormones are involved in the growth, development and maturation of skeletal muscles (sexual hormones) as well as in the process of body adjustment to the stress factors in the environment (glucocorticoid hormones). Starting from these considerations, our experiment has made an attempt to clarify part of the mechanisms involved in the action of steroid hormones at muscle level. On this purpose, 3H thymidine and 3H uridine incorporation was followed up in various types of skeletal muscles (femoral biceps, diaphragmatic, psoas) from rats treated with steroid hormones. Though known as anabolic hormones, sexual hormones did not induce significant and persistent changes in the nucleic acid synthesis (NAS), except for testosterone which enhanced RNA synthesis only in the level femoral muscle after 21 days of administration. Progesterone and the glucocorticoid hormones are known as hormones of proteic catabolism but it seems that this effect is more marked in muscles whose structure predominantly consists of white fibres (rapid muscles), as confirmed by our experiment.

Animals↗
PubMed1992

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on four pedigrees with the disease, suggested a localization for the CLS locus in Xp22.1-p22.2, with the most likely position between the marker loci DXS41 and DXS43. We have now extended the study to 16 families by using seven RFLP marker loci spanning the Xp22.1-p22.2 region. Linkage has been established with five markers from this part of the X chromosome: DXS274 (lod score [Z] (theta) = 3.53 at theta = .08), DXS43 (Z(theta) = 3.16 at theta = .08), DXS197 (Z(theta) = 3.03 at theta = .05), DXS41 (Z(theta) = 2.89 at theta = .08), and DXS207 (Z(theta) = 2.73 at theta = .13). A multipoint linkage analysis further placed, with a maximum multipoint Z of 7.30, the mutation-causing CLS within a 7-cM interval defined by the cluster of tightly linked markers (DXS207-DXS43-DXS197) on the distal side and by DXS274 on the proximal side. Thus, these further linkage data confirm and refine the map location for the gene responsible for CLS in Xp22.1-p22.2. As no linkage heterogeneity was detected, this validates the use of the Xp22.1-p22.2 markers for carrier detection and prenatal diagnosis in CLS families.

Abnormalities, Multiple↗
PubMed1979

[Is the process of localized lysosomal exocytosis responsible for the cytolytic action of killer T-lymphocytes?].

In this paper, we formulate the hypothesis that in the process of target cell lysis a lysosomal enzyme regurgitation, performed by killer cells at the level of the target effector junction, accounts for the target lesion which precedes the lysis (lethal hit). This process of exocytosis, similar to the one described previously in polymorphonuclear neutrophils is supported by cytological studies performed directly on identified killers isolated by micromanipulation. Light and electron microscopy observations confirm a previous report which describes the effector cells rich in lysosomal bodies. In addition, when a killer cell is associated with a target cell to form a conjugate, lysosomes are concentrated near the cell junction and, after incubation at 37 degrees C, acid phosphatases may be detected at the junction. Lysosomal enzyme exocytosis explains why target lysis needs an effector target binding to occur and also the other conditions required for any exocytosis process such as Ca++ in the medium, integrity of the microtubular apparatus, a low level of cyclic AMP and energy dependancy.

Acid Phosphatase↗