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Biomedical subjects

I Barisić

Publications and source records attributed to I Barisić.

17 recordsLinked to original sources
PubMed2001

Platelet serotonin concentration in dialysis patients with somatic symptoms of depression.

Platelet serotonin (5-HT) concentration was measured in 65 male and 45 female chronic renal patients on hemodialysis (HD) with different somatic symptoms of depression (crying spells, irritability, sleep disturbance, fatigability, loss of appetite, weight loss, somatic preoccupation and loss of libido), to find out the relationship between the severity of symptoms and platelet 5-HT concentration. Male and female patients had significantly lower platelet 5-HT concentration than 62 male and 38 female healthy subjects. Gender-differences in platelet 5-HT values observed in healthy subjects were not found in patients. Platelet 5-HT concentration differed in the groups of patients with the different scores of particular somatic symptoms (loss of appetite and loss of libido), but was similar in patients with other somatic symptoms. There was no relationship between platelet 5-HT concentration and the severity of somatic symptoms, or between platelet 5-HT concentration and age of the patients. Gender-related differences in the occurrence of somatic symptoms were detected in patients with the different degrees of weight loss, somatic preoccupation and loss of libido. Our results suggest that platelet 5-HT concentration could not be used as a biological marker for the severity of somatic symptoms in chronic renal patients on HD.

Adolescent↗
PubMed2001

Osteogenesis imperfecta at the beginning of bone and joint decade.

Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. Four different types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types III and IV are the severe forms surviving the neonatal period. In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of mutations in the type I collagen genes. These classic forms of OI are described in this review. There are instances, however, where alterations in bone matrix components, other than type I collagen, are the basic abnormalities of the OI. Recently, three such discrete types have been identified by histomorphometric evaluation (types V and VI) and linkage analysis (Rhizomelic OI). They provide evidence for the as yet poorly understood complexity of the phenotype-genotype correlation in OI. We also discuss bisphosphonates treatment as well as fracture management and surgical correction of deformities observed in the patients with OI. However, ultimately, strengthening bone in OI will involve steps to correct the underlying genetic mutations that are responsible for this disorder. Thus, we also describe different genetic therapeutic approaches that have been tested either on OI cells or on available OI murine models.

Animals↗
PubMed1998

Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene.

The autosomal dominant disorder Rieger syndrome (RIEG) shows genetic heterogeneity and has a phenotype characterized by malformations of the anterior segment of the eye, failure of the periumbilical skin to involute, and dental hypoplasia. The main locus for RIEG was mapped to the 4q25-q27 chromosomal segment using a series of cytogenetic abnormalities as well as by genetic linkage to DNA markers. Recently, a bicoid-related homeobox transcription factor gene called RIEG has been cloned, characterized, and proven to cause the 4q25 linked RIEG. Its mode of action in the pathogenesis of RIEG was not conclusively proven, since most etiological mutations detected in the RIEG sequence caused amino acid substitutions or splice changes in the homeodomain. Through FISH analysis of a 460-kb sequence-ready map (PAC contig) around RIEG that we report in this paper, we demonstrate that the 4q25 linked RIEG disorder can arise from the haploid, whole-gene deletion of RIEG, but also from a translocation break 90 kb upstream from the gene. The data provide conclusive evidence that physical or functional haploinsufficiency of RIEG is the pathogenic mechanism for Rieger syndrome. The map also defines restriction fragments bearing sequences with a potential key regulatory role in the control of homeobox gene expression.

Abnormalities, Multiple↗
PubMed1997

Expand Long PCR for fragile X mutation detection.

Fragile X mutation detection by DNA analysis enables accurate diagnosis of the fragile X syndrome. The mutation involves the expansion of CGG repeats in the FMR1 gene and has been primarily detected by the Southern blotting method. In this study we present a novel, efficient and reliable PCR protocol that is more convenient for routine diagnosis of the fragile X syndrome. This method is based on the use of the Expand Long PCR System, which enables the amplification of normal, premutated and full-mutated alleles, and therefore provides complete CGG repeat analysis of the FMR1 gene. Normal alleles were easily detected by ethidium bromide staining of the agarose gels, suggesting that this assay could be used as a screening test for a large number of referrals. The amplified premutations and full mutations were identified by hybridization with a digoxigenin-labeled 5'-(CGG)5-3' probe, followed by chemiluminescent detection. The accuracy of our Expand Long PCR protocol was confirmed by Southern blot analysis, illustrating that the Expand Long PCR results concur with those of Southern blotting. In this paper we propose a new strategy for molecular diagnosis of the fragile X syndrome in which our Expand Long PCR assay is used as the first screening test for fragile X mutation detection.

Alleles↗
PubMed1997

Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193.

Rieger syndrome (RS) is an autosomal dominant disorder of morphogenesis characterised by malformation of the anterior segment of the eye, dental hypoplasia, and failure of the periumbilical skin to involute. RS has been mapped to the 4q25-q27 chromosomal segment by a series of cytogenetic studies as well as by genetic linkage to DNA markers. It was first localised to chromosome 4q based on an association with a constitutional deletion of 4q23-q27. In this paper we localise the proximal breakpoint of this deletion from the original patient, and we describe a new family with a de novo balanced reciprocal translocation t(4;12)(q25;q15) segregating with full RS in two generations. Using FISH and the P1 artificial chromosomes (PACs) as probes, we have physically localised both the deletion and the translocation breakpoints between genetic markers which are known to be strongly linked to RS. We have mapped both the proximal deletion breakpoint and the translocation breakpoint within a region between two groups of PACs bearing the markers D4S2945 (on the centromeric side) and D4S193 and D4S2940 (on the telomeric side). We believe that these recombinant bacterial clones derived directly from genomic DNA (not subcloned from YACs) will be valuable complementary tools in the efforts to clone the RS gene and to construct a full transcriptional and sequence ready map of this region.

Adult↗
PubMed1996

Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I.

Reciprocal translocation t(11;22)(q23;q11) is of particular interest because the unbalanced offspring of the translocation carriers usually present with a supernumerary derivative chromosome 22. This common unbalanced karyotype is the result of 3:1 chromosome segregation during meiosis. We report the third case of a rare segregation pattern of a paternal 11;22 translocation. The proband's karyotype revealed the presence of a der(11) and two copies of a der(22), i.e. 47,XX,t(11;22)(q23;q11),+der(22) t(11;22)pat. The karyotype is the result of paternal 3:1 segregation after crossing-over involving the derived and the normal chromosome 22, as revealed by chromosome polymorphism analysis. Contrary to the preferential maternal, transmission of this common unbalanced translocation, the data from the literature, including our case, may suggest preferential paternal transmission of this rare type of unbalanced translocation.

Abnormalities, Multiple↗
PubMed1996

Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience.

An analysis was performed on 40 families at risk for an unbalanced rearrangement in the fetus because one of the parents is a reciprocal translocation carrier. The overall risk at second trimester prenatal diagnosis was 14% (8/57). The individual risk for unbalanced offspring at second trimester prenatal diagnoses and at birth were estimated using empirical data by Stengel-Rutkowski et al. (1988). The risks at birth ranged from 0%-21.6%. Most reciprocal translocations (22 or 55%) were at low risk. Without risk (7 or 17.5%), medium risk (6 or 15%) and high risk (5 or 12.5%) translocations were about equally represented and relatively infrequent. The analysis shows that the mode of ascertainment as well as the measurement of lengths of observed or probable imbalances cannot serve as a reliable risk predictor in individual counselling. In the translocations ascertained through spontaneous abortions the risk is frequently small or nonexistent, but remarkable exceptions to this rule are observed. Translocations discovered through unbalanced offspring were found to belong to different risk groups with the exception of the no risk group. Individual risk estimates have to be performed as a basis of genetic counselling before or during pregnancy so that parents with reciprocal translocations can make their choices regarding the available options.

Abnormalities, Multiple↗
PubMed1996

Megalocornea-mental retardation syndrome: report of a new case.

Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.

Abnormalities, Multiple↗
PubMedDate not supplied

DNA analysis of the fragile X syndrome in an at risk pediatric population in croatia: simple clinical preselection criteria can considerably improve the cost-effectiveness of fragile X screening studies.

Advances in understanding the molecular basis of the fragile X syndrome, the most common cause of inherited mental retardation, have elicited new prospects for population-based studies identifying affected individuals and fragile X families, thus contributing in prevention of the disease. In comparison with numerous fragile X screening studies where unselected groups of individuals with mental retardation, developmental delay, learning disability or autistic-like behaviour had been observed, we performed fragile X analysis on clinically preselected individuals. The group we studied consisted of 108 children with mental retardation of unknown cause or positive family history who had at least one physical and/or behavioural characteristic often observed among fragile X individuals. A relative high frequency of the fragile X positive cases (13% overall, 17.3% in males) was detected, suggesting that simple preselection criteria can considerably increase the proportion of fragile X-positive cases, and therefore, improve the cost-effectiveness of fragile X testing. Retrospective clinical analysis using a simplified six-item fragile X checklist confirmed that scoring criteria can be used to additionally preselect individuals at risk. Our results also indicate that this syndrome is underdiagnosed in Croatia and that a further effort must be made to detect unrecognised cases.

Child↗
PubMedDate not supplied

[Mucolipidosis type III (case report)].

A six-year-old boy with mucolipidosis type III or pseudo Hurler polydystrophy is described. The disease is manifested by multiple progressive joint contractures, especially of fingers, presenting as claw hands. The diagnosis of mucolipidosis was established after exclusion of rheumatoid arthritis and mucopolysaccharidosis. In serum and medium of cultured skin fibroblasts, high catalytic activities of several lysosomal enzymes with strikingly decreased values in fibroblast homogenate were found. In most lysosomal diseases gene mutations cause reduced or absent activity of a specific enzyme. In mucolipidosis type III, a basic biochemical disorder is the absence of mannose-6-phosphate, a marker that enables lysosomal membrane receptors to recognize lysosomal enzymes. The transport of lysosomal enzymes across the lysosomal membrane is therefore defective. These and several other metabolic diseases are thus categorized as the disorders of the lysosomal enzyme transport. A genetic and biochemical heterogeneity, as well as clinical manifestations, are described in more detail.

Child↗