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INTRODUCTION: Thyroid surgery in children is a rare operation. The aim of our paper is to point out the specifics of thyroid surgery in children. METHODS: Retrospective analysis of patients hospitalized at the Department of Paediatric Surgery, Faculty of Medicine, Comenius University and National Institute of Childrens Diseases in Bratislava during a 10-year period (20072016) who underwent thyroid surgeries. RESULTS: The retrospective analysis included 81 patients: 66 (81%) girls and 15 (19%) boys. The mean age of the patients was 14 years ±8 months (range 418 years). The most common indications for thyroid surgery were: a nodule in 36 (44.4%) patients, Graves Basedow thyrotoxicosis in 19 (23.5%) patients, and suspected thyroid carcinoma in 11 (13.6%) patients. Cervical lymph node metastases (mts) were diagnosed in 9 (11.1%) patients, and distant pulmonary metastases in 5 (6.17%) patients. Total thyroidectomy (TTE) was performed in 43 (53%) patients, total lobectomy (TL) in 20 (24.7%) patients. Extended surgery on regional lymph nodes was performed in 9 (11.1%) patients. Eight (9.9%) patients underwent reoperation. A total of 12 (14.8%) patients experienced postoperative complications. Unilateral transient recurrent laryngeal nerve (RLN) paralysis occurred in 2 patients, and permanent in one patient. Transient postoperative hypoparathyroidism with hypocalcaemia was reported in 8 (9.9%) patients; no permanent condition of this type was observed. CONCLUSION: Multidisciplinary collaboration ensures that optimal surgical results are achieved in the patients. Experience of the surgeon performing thyroid surgery in children remains crucial.
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Neoplasias da Glândula Tireoide , Paralisia das Pregas Vocais , Criança , Feminino , Humanos , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversosRESUMO
BACKGROUND: Mantle cell lymphoma (MCL) is a rare and clinically aggressive lymphoma subtype. Current approaches have greatly improved patients outcomes, but relapse is inevitable. In phase IIIII clinical trials, ibrutinib has shown significant activity in patients with relapsed or refractory (R/R) MCL. AIM: To assess efficacy and toxicity of ibrutinib monotherapy in patients with R/R MCL in routine practice outside of clinical trials. MATERIALS AND METHODS: The study enrolled patients with confirmed R/R MCL who had received at least one line of previous chemotherapy. ECOG 24, cytopenia, infectious complications, hemorrhagic syndrome were not exclusion criteria. Patients received daily oral ibrutinib 560 mg until progression or unacceptable toxicity. RESULTS: From May 2015 to September 2020 ibrutinib therapy was started in 106 patients with R/R MCL in 16 regions of Russia. The median age was 66 years; ECOG2 18%, blastoid variant (or Ki6740% or WBC50109/l) 43%. The median number of previous treatment lines was 2 (111). The ORR was 78.4% (CRR 27.4%). The median PFS was 13.6 months and OS 23.2 months. In the blastoid group the median PFS was 4.4 months vs 36.5 months in the alternative group (p0.001), the median OS 9.0 vs 41.0 (p=0.001). The median OS of patients after progression on ibrutinib was 3.2 months. The common complications are hemorrhages (63%), diarrhea (62%), myalgia and muscle cramps (60%), infections (31%), skin and nail toxicity 15%, arrhythmia 8%. None of recipients had to completely discontinue ibrutinib therapy due to complications. CONCLUSION: Ibrutinib is effective and well tolerated in routine practice of R/R MCL treatment and our results are consistent with international clinical trials. The favorable toxicity profile and the high response rate made it possible to prescribe ibrutinib in severe somatic status, cytopenia, and even in the presence of infectious complications.
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Adenina , Linfoma de Célula do Manto , Recidiva Local de Neoplasia , Piperidinas , Idoso , Humanos , Linfoma de Célula do Manto/tratamento farmacológico , Linfoma de Célula do Manto/patologia , Recidiva Local de Neoplasia/tratamento farmacológico , Piperidinas/uso terapêutico , Piperidinas/toxicidade , Adenina/análogos & derivados , Adenina/uso terapêutico , Adenina/toxicidade , Federação Russa , Ensaios Clínicos como AssuntoRESUMO
Hearing impairment is the most common sensory impairment that is seen among adults and children. The frequency of congenital hearing loss is well-known due to implementation of newborn hearing screening. Hearing may change throughout a lifetime due to different factors and, therefore, the number of hearing impaired children increases with age. Introduction of universal newborn hearing screening has enabled earlier detection of hearing loss including unilateral and minimal disorders. Nevertheless, despite significant progress made in this field, there is still a group of hearing impairments that stay undiagnosed timely. Auditory neuropathy spectrum disorders, late-onset hearing loss, low-frequency and minimal hearing impairment are sometimes missed in newborn hearing screening or they manifest later. These types of hearing disorders are covered in detail in this review as well as possible ways of increasing the effectiveness of early diagnosis.
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Perda Auditiva Neurossensorial , Triagem Neonatal , Criança , Audição , Transtornos da Audição , Testes Auditivos , Humanos , Recém-NascidoRESUMO
Minimally invasive techniques have now become standard for the treatment of many surgical conditions in children. There are a few studies that describe the utility of laparoscopy in BAT in children. In this article, we describe the complete laparoscopic surgical treatment of two patients after a single blunt abdominal trauma, both with bowel perforation. In both cases, the perforation was identified and closed, one laparoscopically with an ongoing suture, the second jejune perforation was closed by laparoscopic-assisted techniques. Both patients had an uneventful postoperative recovery. Therapeutic laparoscopic treatment of patients with upper gastrointestinal perforation is feasible. We hypothesize, that diagnostic laparoscopy provides important information for the treatment of children with abdominal trauma and is accompanied by improved diagnostic accuracy, reduction of nontherapeutic laparotomy rates, and a reduction of morbidity. Minimally invasive surgery in children after BAT is suitable for hemodynamic stable patients, could improve pain scores, cosmetic effect, shorter hospital stays, shorter operative times and shorter return to school/activities. However, at any point in the patients care, in case the unstable hemodynamic is encountered, exploratory laparotomy is the procedure of choice.Key words: miniinvasive surgery blunt abdominal trauma - laparoscopy bowel perforation.
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Traumatismos Abdominais , Perfuração Intestinal , Laparoscopia , Ferimentos não Penetrantes , Traumatismos Abdominais/complicações , Traumatismos Abdominais/cirurgia , Criança , Humanos , Perfuração Intestinal/etiologia , Perfuração Intestinal/cirurgia , Laparotomia , Estudos Retrospectivos , Ferimentos não Penetrantes/complicações , Ferimentos não Penetrantes/cirurgiaRESUMO
BACKGROUND: Myeloid-derived suppressor cells (MDSCs) are heterogenic population of multipotent progenitors of myeloid lineage. For their immunosuppressive effect, MDSC are responsible for tumour escape from the host immune surveillance. Furthermore, MDSCs support tumour by promotion of angiogenesis and metastasis. Membrane markers of human MDSCs are myeloid markers CD11b and CD13, these cells are HLA-Drlow/- and expression of CD15 or CD14 differentiate them into granulocytic (Gr-MDSCs) and monocytic (Mo-MDSCs), resp. PATIENTS AND METHODS: Using flow cytometry, we investigated Mo-MDSC counts in peripheral blood of non-cancer individuals - control group (n = 61), breast (n = 39) and colorectal (n = 52) cancer patients. These cells were detected as CD45+CD11b+CD33+CD14+HLA-Drlow/- and quantified as percentage of total white blood cells and as absolute count. RESULTS: In control group, circulating Mo-MDSCs was gender-and age-independent and the average value was 1.09% and 0.073 × 109/l. Breast cancer patients had higher circulating Mo-MDSCs compared to control group with average values: 3.57% and 0.229 × 109/l (p < 0.001) and we also observed increase in Mo-MDSC number after granulopoietic growth factors administration (p = 0.043). Colorectal cancer patients had higher average number of circulating Mo-MDSCs compared to control group: 1.71% a 0.125 × 109/l (p = 0.003) and its number did not correlate with tumour clinicopathological stage, localization of primary tumour (colon vs. rectum), site (left vs. right) and microsatellite instability. CONCLUSION: Increased number of MDSCs in circulation and within tumour microenvironment has been associated with immune suppression and tumour progression. Colorectal cancer patients at diagnosis showed higher circulating Mo-MDSCs possibly reflecting immunosuppressive effect of tumour microenvironment. Change of Mo-MDSC number from baseline level need to be evaluated in the context of CRC patients outcome. Recombinant granulopoietic growth factors increase number of circulating Mo-MDSCs and the effect of this phenomenon on cancer prognosis remains to be elucidated.Key words: myeloid-derived suppressor cells - colorectal cancer - breast cancer - immunology - immunosuppression - G-CSF This work was supported by MEYS by NPU I (LO1413), grant AZV 16-31966A and MH DRO 00209805. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers.Submitted: 11. 3. 2017Accepted: 26. 3. 2017.
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Células Supressoras Mieloides/fisiologia , Neoplasias/imunologia , Feminino , Humanos , Masculino , Neoplasias/patologia , Evasão Tumoral , Microambiente TumoralRESUMO
γδ T cells present a minor population of the T cell family which basically differs in construction of their T cell receptor (TCR). Thanks to the features of γδ TCR, these cells can acquire unique effector functions and play a specific role (not only) in antitumor immune response. In this article, we describe the basic characteristics of this cell population and their connection to cancer. In the experimental part we performed exploratory analysis of circulating γδ T cells in reference population and comparison with melanoma and breast carcinoma patients. The median percentage of γδ T cells from all lymphocytes was 2.9% (interquartile range-IQR 1.7-4%). The median absolute numbers of γδ cells per liter of blood was 5.05×10(7) (IQR 2.9-7.84×10(7)). The median percentage of γδ cells between all CD3 T cells was 3.9% (IQR 2.3-5.6%). No correlation between γδ T cells levels and gender or age was observed in reference population. Detailed immunophenotyping was also conducted describing representation of memory subsets (using CD45RO and CD27 markers) and presence of surface markers HLADr, CD69, CD25, CD28, CCR7, CTLAâ4, ICOS, PDâ1L and PDâ1 between γδ T cells of the controls and breast carcinoma patients. From this analysis, it is evident that γδ T cells do not represent a uniform population but they differ in surface markers as well as in their effector functions.
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Neoplasias/imunologia , Receptores de Antígenos de Linfócitos T gama-delta/fisiologia , Linfócitos T/fisiologia , Animais , Humanos , ImunofenotipagemRESUMO
In the article there are presented data of the system analysis of hygienic properties of polyguanidines (PAG) as an innovative class of domestic microbicidal chemical long-acting compounds synthesized in the domestic scientific institution--Institute ofenvironmental and technological problems, and also delivered on their base new disinfectants. Submitted proceedings of microbiological studies indicate to the antimicrobial action of PA G against Gram-negative and Gram-positive bacteria, viruses, dermatophytes, yeasts, fungi, including pathogens, as well infectious agent of swine and legionellosis. The data of toxicological studies of PAG and a number of derivative disinfectants justify their hygienic safety in dependence on the chemical nature of the used anion (A), the composition and structure of the polymer chain and also the content of residual monomers. All this characterizes PAG as a very promising group of compounds for the use in the form of independent disinfectants and as antimicrobial additives and auxiliaries in such means for different purposes.
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Anti-Infecciosos/farmacologia , Infecções Bacterianas/prevenção & controle , Desinfetantes/farmacologia , Higiene/normas , Animais , Modelos Animais de Doenças , Humanos , SuínosRESUMO
Caroli's disease is a rare congenital condition characterized by segmental non-obstructive fibrocystic dilation of intrahepatic bile ducts. Dilated ducts may be infected and contain stones. This review of the modern literature describes few known cases of the disease, analyses its clinical features and results of treatment. The principal diagnostic methods include visualization by ultrasound study, CT, MRT, retrograde and transhepatic cholangiography. Surgical intervention is the method of choice for the treatment of the disease including resection of liver, placement of hepatico-jejunal anastomoses and transplantation. The choice depends on the extent of the lesion and anticipated complications. The authors' observation of the patient with Caroli's disease in a 35 year-old woman is presented. It was successfully treated by left-hand bisegmentectomy even though the disease was diagnosed 14 years after the first symptoms. It is recommended that the disease, even if a rare one, should be included in the algorithm of differential diagnostics ofrecurrent abdominal pain with manifestations of cholestasis or fever of an unknown origin.
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Doença de Caroli/diagnóstico , Adulto , Doença de Caroli/cirurgia , Feminino , HumanosRESUMO
The synthesis of asymmetric meso-aryl-substituted porphyrins containing three 4-methoxycarbonylphenyl groups, and as a forth substituent 4-hydroxyphenyl or 4-hydroxy-3- methoxyphenyl radicals, or the isomeric 3- and 4-pyridyl substituents is described. O-alkyl derivatives of 4-hydroxyl residue are obtained. The ytterbium complexes ofthese porphyrins were synthesized and studied their luminescence spectral properties were studied. A significant difference in the lifetimes of the excited state ofytterbium complexes of esters and acids of asymmetric porphyrins is demonstrated.
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Porfirinas/química , Porfirinas/síntese química , Itérbio/química , Isomerismo , LuminescênciaRESUMO
Dothideaceous black yeast-like fungi (BYF) are known to synthesise DHN-melanin that is inhibited by the systemic fungicide tricyclazole. The final step of the DHN melanin pathway is the conjoining of 1,8-DHN molecules to form the melanin polymer. There are several candidate enzymes for this step, including phenoloxidases such as tyrosinase and laccases, peroxidases, and perhaps also catalases. We analysed the type polyphenoloxidases that are involved in biosynthesis of BYF melanins. For that purpose we used substrates of o-diphenoloxidases (EC 1.10.3.1.): 4-hydroxyphenyl-pyruvic acid, L-beta-phenyllactic acid, tyrosine, pyrocatechol, 3,4-dihydroxyphenylalanine and homogentisic acid, as well as substrates of p-diphenoloxidases (EC 1.10.3.2.): syringaldazine, resorcinol, p-phenylenediamine, phloroglucinol, guaiacol and pyrogallic acid. Fourteen strains of black yeasts originating from different natural biotopes were investigated. The tested strains could be divided into four groups based on their ability to produce dark pigments when cultivated on aromatic substrates of o- and on p-diphenoloxidases. It was established that syringaldazine, pyrogallic acid and 4-hydrophenyl-pyruvic acid, beta-phenyllactic acid optimally promote melanin biosynthesis. Average intensity of pigmentation of all strains studied was minimal when guaiacol was used as a substrate. The present investigation indicates that the melanisation process may involve more enzymes and more substrates than those commonly recognised. Black yeasts are likely to contain a multipotent polyphenoloxidase.
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Of the rules used by the splicing machinery to precisely determine intron-exon boundaries only a fraction is known. Recent evidence suggests that specific short sequences within exons help in defining these boundaries. Such sequences are known as exonic splicing enhancers (ESE). A possible bioinformatical approach to studying ESE sequences is to compare genes that harbor introns with genes that do not. For this purpose two non-redundant samples of 719 intron-containing and 63 intron-lacking human genes were created. We performed a statistical analysis on these datasets of intron-containing and intron-lacking human coding sequences and found a statistically significant difference (P = 0.01) between these samples in terms of 5-6mer oligonucleotide distributions. The difference is not created by a few strong signals present in the majority of exons, but rather by the accumulation of multiple weak signals through small variations in codon frequencies, codon biases and context-dependent codon biases between the samples. A list of putative novel human splicing regulation sequences has been elucidated by our analysis.
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Processamento Alternativo , Elementos Facilitadores Genéticos/genética , Éxons/genética , Genes/genética , Íntrons/genética , Composição de Bases , Bases de Dados Factuais , Humanos , Fases de Leitura Aberta , Proteínas/genética , Estatística como AssuntoRESUMO
In order to elucidate the molecular-genetic relations of some Lacerta s. str. lizard populations, subspecies and species in comparison with some other genera we used methods revealing four types of nuclear DNA markers. Among these were taxonprint, RAPD, Inter-MIR-PCR markers and also satellite DNA monomer sequences. The aim was to compare the phylogeny and systematics of this reptilian group based on morphological and molecular criteria. This problem has a general importance for understanding a speciation process. Our results show a good correlation between both approaches when genera and species levels were studied. Systematic status of five subspecies of L. agilis were supported but not in all cases, some subspecies have no meaningful genetic differences by three types of molecular markers, but all of them were differed by RAPD markers. The data confirm the subdivision of L. agilis populations into west and east clades proposed by other authors earlier on the basis of mitochondrial DNA and morphology. The population structure of one of the subspecies--L. agilis exigua, was studied on a number of populations distributed from Ural region up to Kabardino-Balkaria by IMP method. There were no significant differences among these 14 populations investigated. The data testify the rapid distribution of the species after the end of Pleistocene glaciation.
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Variação Genética , Lagartos/genética , Animais , Sequência de Bases , DNA Satélite/genética , Evolução Molecular , Marcadores Genéticos , Genética Populacional , Lagartos/classificação , Dados de Sequência Molecular , Filogenia , Técnica de Amplificação ao Acaso de DNA Polimórfico , Especificidade da EspécieRESUMO
Electric fusion of cells is usually performed in two steps: the first is the creation of tight intercellular contact, the second is an application of electric pulses which induce membrane fusion proper. In the present work a new technique of cell electrofusion on the porous film is described. It consists of preliminary cultivation of cell monolayer on the porous film (protein-coated cellophane). Then cells of the same or any other type are added from above to form a second cell layer upon the first one. The pulses of the electric field are applied normally to the plane of the double cell layer to induce cell fusion. After pulse application a picture of mass polynucleation was observed. At the same time we did not obtain fusion of L cells by means of dielectrophoretic electrofusion technique. This difference in efficiency could be explained by the formation of broad zones of membrane contact between the cells adherent to the film, while during intensive dielectrophoresis only the point contacts were revealed. The high-conducting medium for electric treatment providing an efficient fusion on the film and high cell viability was composed. Neither cytochalasin B nor colcemid affected cell fusion noticeably; however the sodium azide (added with 2-deoxyglucose) inhibited fusion completely. The short hypotonic shock after electric treatment enhanced the rate of polycaryon formation.
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Fibroblastos/ultraestrutura , Fusão de Membrana , Animais , Azidas/farmacologia , Comunicação Celular , Linhagem Celular , Sobrevivência Celular , Celofane , Cricetinae , Desoxiglucose/farmacologia , Eletricidade , Eletroforese , Células L , Fusão de Membrana/efeitos dos fármacos , Camundongos , Microscopia Eletrônica , Concentração Osmolar , Proteínas , Azida SódicaRESUMO
Centromeric region of human chromosome 21 comprises two long alphoid DNA arrays: the well homogenized and CENP-B box-rich alpha21-I and the alpha21-II, containing a set of less homogenized and CENP-B box-poor subfamilies located closer to the short arm of the chromosome. Continuous alphoid fragment of 100 monomers bordering the non-satellite sequences in human chromosome 21 was mapped to the pericentromeric short arm region by fluorescence in situ hybridization (alpha21-II locus). The alphoid sequence contained several rearrangements including five large deletions within monomers and insertions of three truncated L1 elements. No binding sites for centromeric protein CENP-B were found. We analyzed sequences with alphoid/non-alphoid junctions selectively screened from current databases and revealed various rearrangements disrupting the regular tandem alphoid structure, namely, deletions, duplications, inversions, expansions of short oligonucleotide motifs and insertions of different dispersed elements. The detailed analysis of more than 1100 alphoid monomers from junction regions showed that the vast majority of structural alterations and joinings with non-alphoid DNAs occur in alpha satellite families lacking CENP-B boxes. Most analyzed events were found in sequences located toward the edges of the centromeric alphoid arrays. Different dispersed elements were inserted into alphoid DNA at kinkable dinucleotides (TG, CA or TA) situated between pyrimidine/purine tracks. DNA rearrangements resulting from different processes such as recombination and replication occur at kinkable DNA sites alike insertions but irrespectively of the occurrence of pyrimidine/purine tracks. It seems that kinkable dinucleotides TG, CA and TA are part of recognition signals for many proteins involved in recombination, replication, and insertional events. Alphoid DNA is a good model for studying these processes.
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Autoantígenos , Centrômero/genética , Cromossomos Humanos Par 21/genética , DNA Satélite/genética , Proteínas de Ligação a DNA , Mutagênese Insercional/genética , Conformação de Ácido Nucleico , Recombinação Genética/genética , Elementos Alu/genética , Sequência de Bases , Sítios de Ligação , Centrômero/química , Centrômero/metabolismo , Proteína B de Centrômero , Proteínas Cromossômicas não Histona/metabolismo , Deleção Cromossômica , Inversão Cromossômica , Cromossomos Humanos Par 21/química , Cromossomos Humanos Par 21/metabolismo , Biologia Computacional , Troca Genética/genética , Replicação do DNA/genética , DNA Satélite/química , DNA Satélite/metabolismo , Bases de Dados como Assunto , Repetições de Dinucleotídeos/genética , Humanos , Hibridização in Situ Fluorescente , Linfócitos , Mutação/genética , Reação em Cadeia da PolimeraseRESUMO
Twenty-three unique NotI-linking clones, mainly isolated from the NRL1 library, were mapped and ordered by fluorescence in situ hybridization to human chromosome 3. All these clones were partially sequenced around the NotI sites and thus represent sequence-tagged sites. The EMBL nucleotide database was then searched with sequences from the NotI-linking clones using the FASTA program. This search revealed that the NRL-090 clone (at 3q24) contains the gene encoding human guanosine 5'-monophosphate synthetase (GMPS-PEN). To our knowledge, this is the first localization of this gene. Clone NL1-320 (at 3p21.3) contains a gene encoding arginine tRNA (97.3% identity in 73 bp), while clones NRL-063, NRL-097 and NRL-143 contain expressed sequences with unknown functions. Other clones displayed 60-85% similarities to cDNAs, CpG islands and other genes.
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Carbono-Nitrogênio Ligases , Cromossomos Humanos Par 3/genética , Desoxirribonucleases de Sítio Específico do Tipo II/genética , Ligases/genética , Sequência de Bases , Mapeamento Cromossômico , Clonagem Molecular , Sequência Conservada , Ilhas de CpG , Expressão Gênica , Humanos , Hibridização in Situ Fluorescente , Dados de Sequência Molecular , Mapeamento por RestriçãoRESUMO
We have partially sequenced more than 1000 NotI linking clones isolated from human chromosome 3-specific libraries. Of these clones, 152 were unique chromosome 3-specific clones. The clones were precisely mapped using a combination of fluorescence in situ hybridization (FISH) and hybridization to somatic cell or radiation hybrids. Two- and three-color FISH was used to order the clones that mapped to the same chromosomal region, and in some cases, chromosome jumping was used to resolve ambiguous mapping. When this NotI restriction map was compared with the yeast artificial chromosome (YAC) based chromosome 3 map, significant differences in several chromosome 3 regions were observed. A search of the EMBL nucleotide database with these sequences revealed homologies (90-100%) to more than 100 different genes or expressed sequence tags (ESTs). Many of these homologies were used to map new genes to chromosome 3. These results suggest that sequencing NotI linking clones, and sequencing CpG islands in general, may complement the EST project and aid in the discovery of all human genes by sequencing random cDNAs. This method may also yield information that cannot be obtained by the EST project alone; namely, the identification of the 5' ends of genes, including potential promoter/enhancer regions and other regulatory sequences
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Cromossomos Humanos Par 3/genética , DNA/genética , Desoxirribonucleases de Sítio Específico do Tipo II/metabolismo , Biblioteca Gênica , Animais , Linhagem Celular , Mapeamento Cromossômico , DNA/química , DNA/metabolismo , Bases de Dados Factuais , Etiquetas de Sequências Expressas , Humanos , Células Híbridas , Hibridização in Situ Fluorescente , Camundongos , Alinhamento de Sequência , Análise de Sequência de DNARESUMO
B-cell chronic lymphocytic leukemia (B-CLL) is a human hematological neoplastic disease often associated with the loss of a chromosome 13 region between RB1 gene and locus D13S25. A new tumor suppressor gene (TSG) may be located in the region. A cosmid contig has been constructed between the loci D13S1168 (WI9598) and D13S25 (H2-42), which corresponds to the minimal region shared by B-CLL associated deletions. The contig includes more than 200 LANL and ICRF cosmid clones covering 620 kb. Three cDNAs likely corresponding to three different genes have been found in the minimally deleted region, sequenced and mapped against the contigged cosmids. cDNA clone 10k4 as well as a chimeric clone 13g3, codes for a zinc-finger domain of the RING type and shares homology to some known genes involved in tumorigenesis (RET finger protein, BRCA1) and embryogenesis (MID1). We have termed the gene corresponding to 10k4/13g3 clones LEU5. This is the first gene with homology to known TSGs which has been found in the region of B-CLL rearrangements.
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Cromossomos Humanos Par 13 , Proteínas de Ligação a DNA/genética , Genes Supressores de Tumor , Leucemia Linfocítica Crônica de Células B/genética , Proteínas Supressoras de Tumor , Dedos de Zinco , Sequência de Aminoácidos , Deleção Cromossômica , Mapeamento Cromossômico , Cosmídeos , DNA Complementar , Humanos , Dados de Sequência MolecularRESUMO
In vivo perfusions with methylene blue of the cat's caudal mesenteric sympathetic ganglion gradually suppresses transmission in the ganglion, measured as an increase in latency and a decrease in amplitude of the compound action potentials in the postganglionic fibres.
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A study has been made on the distribution of introns of different groups with respect to phases. It has been established that group II introns and nuclear introns have a similar minimum of relative frequency of phase 2 introns. Since the phase of introns is an extremely conservative index, the observed minimum is a trace of relic evolutionary processes. A sample of all known group I introns proved to be insufficient to obtain a valid characteristic of phase distribution. It has been shown that the picture observed in the phase distribution cannot be explained on the basis of the mobile properties of introns only. One of the probable explanations for the intron phase distribution nonuniformity is the process of exon shuffling. An assumption is made that group II introns originated at the early stages of evolution and were involved in the process of exon shuffling.
Assuntos
Íntrons , Animais , Evolução Biológica , Núcleo Celular/metabolismo , Éxons , Humanos , Plantas/genética , Splicing de RNA , Recombinação GenéticaRESUMO
Twenty four recombinant cosmids were subregionally localized by fluorescent in situ hybridization on human chromosomes. Fifteen of the clones were found to belong to only one chromosome: 13 clones located on chromosome 13, one located on chromosome 1, and one on chromosome 11. Nine cosmids were located in nuclear organizer regions. The clones gave signals from NOR regions of chromosome 13 and all other chromosomes containing the NOR region. The cosmid probes were selected from the chromosome 13 cosmid library as ones containing microsatellite repeats with motifs GACA, GACT, GATG, TCC, and CA. Each of the 9 clones located in the NOR region contains microsatellites GACA and TCC. Among the 15 clones giving unique signals, we found 9 clones with the GACT microsatellite, and three clones containing one of the microsatellites GATG, TCC, and CA. These microsatellite-containing clones can be used to make polymorphic genetic markers for fine genetic mapping of chromosome 13.