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1.
Leukemia ; 37(5): 988-1005, 2023 05.
Article in English | MEDLINE | ID: mdl-37019990

ABSTRACT

Chromosomal rearrangements of the human KMT2A/MLL gene are associated with de novo as well as therapy-induced infant, pediatric, and adult acute leukemias. Here, we present the data obtained from 3401 acute leukemia patients that have been analyzed between 2003 and 2022. Genomic breakpoints within the KMT2A gene and the involved translocation partner genes (TPGs) and KMT2A-partial tandem duplications (PTDs) were determined. Including the published data from the literature, a total of 107 in-frame KMT2A gene fusions have been identified so far. Further 16 rearrangements were out-of-frame fusions, 18 patients had no partner gene fused to 5'-KMT2A, two patients had a 5'-KMT2A deletion, and one ETV6::RUNX1 patient had an KMT2A insertion at the breakpoint. The seven most frequent TPGs and PTDs account for more than 90% of all recombinations of the KMT2A, 37 occur recurrently and 63 were identified so far only once. This study provides a comprehensive analysis of the KMT2A recombinome in acute leukemia patients. Besides the scientific gain of information, genomic breakpoint sequences of these patients were used to monitor minimal residual disease (MRD). Thus, this work may be directly translated from the bench to the bedside of patients and meet the clinical needs to improve patient survival.


Subject(s)
Histone-Lysine N-Methyltransferase , Leukemia, Myeloid, Acute , Myeloid-Lymphoid Leukemia Protein , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Humans , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Leukemia, Myeloid, Acute/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Histone-Lysine N-Methyltransferase/genetics , Myeloid-Lymphoid Leukemia Protein/genetics , Gene Fusion
3.
Chirurgia (Bucur) ; 110(6): 538-44, 2015.
Article in English | MEDLINE | ID: mdl-26713828

ABSTRACT

Meconium peritonitis is a rare prenatal disease with an increased rate of morbidity and mortality in the neonatal period. Distinctive features revealed by prenatal and postnatal ultrasoundmay be present: abdominal calcifications, ascites, polyhydramnios, meconium pseudocyst, echogenic mass and dilated bowel or intestinal obstruction. Establishing clear postnatal treatment and prognosis is difficult because of the heterogeneity of the results obtained by ultrasound. The aim of the study is to determine how prenatal diagnosis of meconium peritonitis is associated with perinatal management and further evolution. Clinical results are different depending on the presence of antenatal diagnosis of meconium peritonitis and its form, which can be mild or severe. Surgical treatment and management of meconium peritonitis depend on the clinical presentation of the newborn. Meconium peritonitis diagnosed prenatally differs from that of the newborn, not only concerning the mortality rates but also through reduced morbidity and overall better prognosis.


Subject(s)
Fetal Diseases/diagnostic imaging , Infant, Newborn, Diseases/diagnostic imaging , Meconium , Peritonitis/diagnostic imaging , Peritonitis/surgery , Postnatal Care , Ultrasonography, Prenatal , Female , Gestational Age , Humans , Infant, Newborn , Intestinal Obstruction/diagnostic imaging , Intestinal Obstruction/surgery , Male , Peritonitis/diagnosis , Peritonitis/etiology , Pregnancy , Prognosis , Retrospective Studies , Severity of Illness Index , Treatment Outcome
5.
Article in Romanian | MEDLINE | ID: mdl-2534436

ABSTRACT

An improved knowledge of anatomy and psysiology of the apical radicular region has made mandatory a better classical endodontic technique concerning the apical limit of instrumentation, and has stressed the importance of a precise determination of the cemento-dentinal junction as the apical limit of canal obturation. On the basis of these orientations a clinical and radiographic study was carried out on 120 teeth extracted form humans, in which the frequency was determined of the excentric position of the cement conus with regard to the apex, and the distance between the cemento-dentinal junction and the apex. In 45 teeth in situ, with pulpar inflammation, gangrene and apical parodontitis a clinical and radiological appraisal was done of the cemento-dentinal junction, and evolution was followed after canal obturation.


Subject(s)
Root Canal Obturation/methods , Dental Pulp Cavity/anatomy & histology , Humans , Root Canal Obturation/instrumentation
6.
Article in Romanian | MEDLINE | ID: mdl-2534433

ABSTRACT

Complex parodontal therapy is the main object of interest in the field of specialized assistance provided by our group. Between 1971 and 1987 complex parodontal therapy was applied in a total of 616 patients, of which 150 between 1971 and 1975, 174 between 1976 and 1980, and 292 between 1981 and 1987. Therapy consisted in individualized procedures depending on general and local conditions, and was aimed at the control of the bacterial plaque, extraction of irrecuperable teeth, removal of the dental pulp when significant polishing had to be carried out for alignment in the occluding plane, and of prosthetic parallelism in pluriradicular teeth with involvement of the furcation (II-nd and III-rd degree) where radicular amputation was necessary, hemi- or bisection. Conservative therapy was completed by surgery with a view to suppress parodontal pouches, and by functional therapy with a view to achieve morphological and functional balance of the dental arcs, with high priority to the conjuncted type. In all the cases maintenance therapy was applied, with periodical controls performed at least twice a year with a view to obtain an effective control of the bacterial plaque, and for removal of dental deposits.


Subject(s)
Periodontal Diseases/therapy , Chronic Disease , Humans
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