ABSTRACT
Chromosome 5p13 duplication syndrome represents a contiguous gene syndrome involving duplication of several genes on chromosome 5p13. Some clinical phenotypes are related to it, such as: obsessive-compulsive behavior, small palpebral fissures, intellectual disability, global development delay and ocular hypertelorism. The exact mechanism behind these changes has not well known and further studies are needed for this purpose. Since it is a rare and uncommon clinical situation, the case report contributes to the knowledge of the disease and early diagnosis. This condition mainly affects the cognitive neuromuscular system. We describe an 8-year-old Brazilian patient with the duplication of chromosome 5p13.2, karyotype, whose neurodevelopmental evaluation presented cognitive impairment, severe language delay and atypical physical examination, with ocular hypertelorism, right auricular tags, congenital heart defect and long fingers. The patient was diagnosed by comparative genomic hybridization (CGH)-array revealing a 204Kb of DNA duplication. The exact mechanism behind these structural disorders is still unclear and further studies are needed for this purpose. Nevertheless, the diagnostic suspicion of this genetic alteration that, in general, presents late diagnosis, should be considered to enable better clinical support to the patients and family genetic counseling.
A síndrome da duplicação do cromossomo 5p13 representa uma síndrome genética contígua envolvendo a duplicação de vários genes contidos nesta região. Alguns fenótipos clínicos estão relacionados com ela, tais como: comportamento obsessivo compulsivo, fissuras palpebrais pequenas, déficit intelectual, atraso no desenvolvimento global e hipertelorismo ocular. Por ser uma situação clínica rara, o relato do caso contribui para a disseminação do conhecimento acerca da condição, assim como para seu diagnóstico precoce. Descrevemos uma paciente brasileira de oito anos com a duplicação do cromossomo 5p13.2, que na avaliação do neurodesenvolvimento apresentou comprometimento cognitivo, grave atraso da linguagem e dismorfismos como hipertelorismo ocular, apêndice auricular direito, sopro cardíaco, relacionado a defeito do septo ventricular, e dedos alongados. A paciente foi diagnosticada por meio da pesquisa molecular (CGH)-array com ganho de 204Kb de DNA. O mecanismo exato por trás dessas alterações estruturais ainda não está claro e são necessários mais estudos para este fim. Não obstante, a suspeita diagnóstica dessa alteração genética que, em geral, apresenta diagnóstico tardio, deve ser aventada para viabilizar melhor suporte clínico aos pacientes e aconselhamento genético familiar.
Subject(s)
Humans , Female , Child , Segmental Duplications, Genomic , Chromosome Duplication/genetics , Genetic Testing/methods , Cognition Disorders/diagnosis , Failure to Thrive , Comparative Genomic Hybridization , Language Development Disorders/diagnosisABSTRACT
Class III peroxidase (CIII prx) is a plant-specific multigene family that regulates the physiological and stress responses. This research aimed to exhaustively annotate and analyse the CIII prx family in sweet orange and to explore the regulated expression profiles by Xanthomonas citri subsp. citri (Xcc) and plant hormones. We further assessed the relationship between CIII prxs and citrus bacterial canker. The phylogeny, gene structure, conserved motifs, gene duplications and microsynteny of the CIII prx family were analysed. Expression profiles of specific CsPrxs induced by Xanthomonas citri subsp. citri and plant hormones were detected by quantitative reverse transcription-polymerase chain reaction. Subcellular localization was analysed through transient expression assessments. A total of 72 CIII prx members were identified from the genomes of sweet orange. In all chromosomes of sweet orange, the CsPrxs could be detected except in chromosome 8. In addition, three segmental duplications, four tandem duplications and 11 whole-genome duplications occurred among the CsPrxs, contributing to the family size expansion. From the Ka/Ks ratios, 15 of 18 duplicated CsPrxs pairs have experienced purifying selection process. A total of 15 conserved motifs were detected in CsPrxs, four of which were detected in all complete CsPrxs. A total of 12 expressed genes were identified from the EST database. The expression trends of 12 CsPrxs were differently expressed at different stages of infection by Xcc, five of which were potential candidate genes involved in Xcc resistance. These genes could be induced by salicylic acid and methyl jasmonate, and were extracellular proteins. These results further support our understanding of CIII prxs in citrus, particularly in citrus bacterial canker studies
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Objective: To study the effects of medication reconciliation and patient counseling on the overall health benefits of the patients in the department of gastroenterology. Methods: This study is a prospective interventional study, was conducted in a 500 bedded MNR Hospital. The sample size taken was 150 patients and the study population comprised of patients aged 18-80 y, admitted in the hospital during the study period of six months. Results: Out of 150 patients, there were 98 (65.33%) male patients and 52 (34.67%) female patients. Patients between 18 and 30 y of age were 29(19.33%), between the age of 30 and 50 y were 71 (47.33%) and above 50 were 50(33.33%). Pancreatitis was most prevalent with 21% of total prevalence, followed by CLD and cholelithiasis with 17%, then IBD 16%, PUD and Gastritis 5%, GERD 4% and other diseases 15%. Conclusion: The basic role of the pharmacist, is to help in minimizing the errors and to perform medication reconciliation. In patient counseling, pharmacists provide information about the disease, and the medications to increase patient safety and the changes in the behavior for the better outcome.
ABSTRACT
The 16p12.2 chromosome band contains three large segmental duplications: BP1, BP2 and BP3, providing a substrate for recombination and recurrent chromosomal rearrangements. The ‘16p12.2 microdeletion’ is a recurrent deletion comprised between BP2 and BP3, associated with variable clinical findings. We identified a heterozygous 16p12.2 microdeletion spanning between BP1 and BP2 in a child evaluated for short stature and mild dyslexia. Unexpectedly, the mother carried the same deletion in the homozygous state and suffered from severe hearing loss. Detailed family history revealed consanguinity of the maternal grandparents. The 16p12.2 microdeletion is a rare condition and contains only three genes: METTL9, IGSF6 and OTOA of which the OTOA is considered responsible for DFNB22 hearing loss (MIM: 607039) under its homozygous condition. A number of OTOA mutations have been described, whereas very few cases of a 16p12.2 microdeletion similar to that observed in our family have been reported. In conclusion, we describe a rare ‘distal 16p12.2microdeletion’ widening the phenotypic spectrum associated with the recurrent 16p12.2 microdeletion and support the causative role of OTOA microdeletion in hearing impairment.
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Miniature inverted-repeat transposable elements transposon is a special transposon that could transpose by "cut-paste" mechanism, which is one of characteristics of DNA transposons. Otherwise, the copy number of MITEs is very high, which is one of characteristics of RNA transposons. Many MITE families have been reported, but little about active MITEs. We summarize recent advances in studying active MITEs. Most the MITEs belong to the Tourist-like family, such as mPing, mGing, PhTourist1, Tmi1 and PhTst-3. Additionally, DTstu1 and MITE-39 belong to Stowaway-like family, and AhMITEs1 belongs to Mutator-like family. Moreover, we summarize the structure (terminal inverse repeats and target site duplications), copy number, evolution pattern and transposition characteristics of these active MITEs, to provide the foundation for the identification of other active MITEs and subsequent research on MITE transposition and amplification mechanism.
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Objective To analyze the radiologic features of intestinal duplications in children and improve the diagnostic rate of this disease presurgical resection.Methods The clinical presentation and imaging data of eight cases confirmed surgically and patho-logically with intestinal duplications were retrospectively analyzed,as well as reviewed based on literature review.Results 8 cases were given ultrasonography,7 of them had positive performance.7 csaes were given CT scan and 6 of them had positive performance. 6 cases had ECT examination and 4 of them were positive.Their positive rates were 87.5%,85.7%,66.7% respectively.The posi-tive rates were all 100% combining ultrasonography with CT or CT with ECT.Conclusion Ultrasonography,CT and ECT is helpful to diagnose of intestinal duplications in children,their results are the no-specificity.Choosing a suitable imaging examination is useful to offer a pre-operative diagnosis.
ABSTRACT
Alimentary tract duplications are uncommon congenital abnormalities that usually have an anatomical connection with some part of the gastrointestinal tract and have a common blood supply with the adjacent segment of intestine. A completely isolated duplication cyst (CIDC) is a very rare type of gastrointestinal duplication that does not communicate with the normal bowel segment and possesses its own exclusive blood supply. Only 5 CIDC cases in adults have been reported in the English medical literature. Additionally, only 1 case of mucinous cystadenoma from an infected CIDC of the ileum has been reported. This report describes a 52-year-old male patient with a peritoneal CIDC, which upon curative excision was found to have given rise to an adenocarcinoma. The latter was lined internally with malignant glandular cells and contained a smooth muscular outer layer as determined by microscopic examination of the tissue. We believe that this is the first reported case of an adenocarcinoma originating from a CIDC in an adult.
Subject(s)
Adult , Humans , Male , Middle Aged , Adenocarcinoma , Congenital Abnormalities , Cystadenoma, Mucinous , Gastrointestinal Tract , Ileum , Intestines , MesenteryABSTRACT
Pseudogenes are defined as non-functional relatives of genes whose protein-coding abilities are lost and are no longer expressed within cells. They are an outcome of accumulation of mutations within a gene whose end product is not essential for survival. Proper investigation of the procedure of pseudogenization is relevant for estimating occurrence of duplications in genomes. Frankineae houses an interesting group of microorganisms, carving a niche in the microbial world. This study was undertaken with the objective of determining the abundance of pseudogenes, understanding strength of purifying selection, investigating evidence of pseudogene expression, and analysing their molecular nature, their origin, evolution and deterioration patterns amongst domain families. Investigation revealed the occurrence of 956 core pFAM families sharing common characteristics indicating co-evolution. WD40, Rve_3, DDE_Tnp_IS240 and phage integrase core domains are larger families, having more pseudogenes, signifying a probability of harmful foreign genes being disabled within transposable elements. High selective pressure depicted that gene families rapidly duplicating and evolving undoubtedly facilitated creation of a number of pseudogenes in Frankineae. Codon usage analysis between protein-coding genes and pseudogenes indicated a wide degree of variation with respect to different factors. Moreover, the majority of pseudogenes were under the effect of purifying selection. Frankineae pseudogenes were under stronger selective constraints, indicating that they were functional for a very long time and became pseudogenes abruptly. The origin and deterioration of pseudogenes has been attributed to selection and mutational pressure acting upon sequences for adapting to stressed soil environments.
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Objective To discuss the clinical application and therapeutic effect of repairing deformed thumb in the way of transposition of abandoned polydactyly with neurovascular bundles.Methods From January 2005 to December 2011,six cases of type Ⅳ deformities of thumb duplications were treated with excision of thin and deformed thumb phalangette of trunk,the redundant hyperdactylia,which was well-formed and involved in the first web space,was then transposed with neurovascular bundles to the thumb phalangette of trunk by the first web space and the side of thumb for fixation followed by repairation of form of thumb phalangette.The surplus metacarpal bone and phalanx of duplications were removed and the first web space was reconstructed.Results All 6 cases of heterotopic thumb phalangette transplanted to the deformed thumb phalangette were completely survived.Kirschner wires were removed 4 weeks after operation.Fracture healing occured after 4 to 6 weeks after operation.Postoperative follow-up period ranged from 3 months to 1 year.Transplanted thumbs possessed well-formed appearance with previous sensation on the finger pulp as well as excellent function of grabbing and opposing.Conclusion To repair deformity of trunk thumb in the way of microsurgery by means of transposition of duplicated thumb with neurovascular bundle which should be abandoned,is a simple operation with satisfactory and reliable postoperative effect.It shall be spred and applied.
ABSTRACT
Repeat-induced point mutation (RIP) is a sexual stage-specific mutational process of Neurospora crassa and other fungi that alters duplicated DNA sequences. Previous studies from our laboratory showed that chromosome segment duplications (Dps) longer than ~300 kbp can dominantly suppress RIP, presumably by titration of the RIP machinery, and that although Dps <200 kbp did not individually suppress RIP, they could do so in homozygous and multiply heterozygous crosses, provided the sum of the duplicated DNA exceeds ~300 kbp. Here we demonstrate suppression of RIP in a subset of progeny carrying the normally sub-threshold 154 kbp Dp(R2394) from a cross of T(R2394) to the wild isolated Carrefour Mme. Gras strain (CMG). Thus, the CMG strain contains a factor that together with Dp(R2394) produces a synthetic RIP suppressor phenotype. It is possible that the factor is a cryptic Dp that together with Dp(R2394) can exceed the size threshold for titration of the RIP machinery and thereby causes RIP suppression.
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Esquizofrenia es un trastorno mental que afecta aproximadamente 1% de la población mundial. Está caracterizada por episodios psicóticos, en los cuales los individuos presentan alucinaciones y/o delirios. A su vez, este trastorno involucra un fuerte componente de disfunción social, falta de motivación y deficiencias cognitivas profundas. Las causas de este trastorno se desconocen a ciencia cierta, aunque la evidencia acumulada indica que surge por alteraciones en el desarrollo del sistema nervioso central. Entre los factores que incrementan el riesgo a desarrollar este trastorno se encuentran varios elementos del ambiente incluyendo, infecciones y malnutrición prenatal, así como complicaciones durante el parto. Sin embargo, estudios detallados han corroborado la existencia de factores genéticos involucrados en el desarrollo de esquizofrenia y señalan a estos como los factores más importantes que parecen determinar la aparición de la enfermedad. A pesar de esto, la identificación de genes involucrados en el desarrollo de esta enfermedad ha resultado ser una de las tareas más difíciles que enfrentan la genética y la genómica. El desarrollo de técnicas modernas para el estudio del genoma humano ha permitido estudiar de forma sistemática las variaciones en la secuencia y estructura del genoma que dan lugar a esquizofrenia, permitiendo la identificación de cientos de genes, que pueden estar involucrados en el desarrollo de la enfermedad. Además, se ha sugerido que muchos de estos genes están involucrados en varias enfermedades mentales que en la actualidad se diagnostican como trastornos diferentes, pero cuyo substrato biológico pudiera ser similar.
Schizophrenia is a mental disorder that affects approximately 1% of the worldwide population. It is characterized by psychotic episodes in which individuals have hallucinations or delusions. This disorder also involves a strong element of social dysfunction, lack of motivation and profound cognitive deficits. The causes of this disorder remain largely unknown, but evidence indicates that arises from changes in the development of the central nervous system. Among the identified risk factors for this disorder are several environmental events, including prenatal infections and malnutrition, and complications during childbirth. However, the most important factor seems to be genetics. Despite this, the identification of genes involved in the development of this disorder has emerged as one of the most difficult tasks facing modern genetics and genomics. The development of techniques for studying the human genome has allowed a more systematic approach to determine variations in the genome sequence and structure that area casually involved in schizophrenia. These studies suggest the participation of hundreds of genes in schizophrenia development. In addition, it has been suggested that many of these genes are involved in various mental illnesses that today are diagnosed as separate entities, but whose biological substrate may be shared.
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Con el objetivo de definir un fichero de pacientes que actuara como un catálogo de historias clínicas, es decir, como una relación ordenada del conjunto de materiales que existen en una unidad documental, con indicación mediante un símbolo (signatura o número de historia clínica del lugar que ocupan los documentos), se desarrolló un mecanismo que sirviera, tanto para su identificación, como para su ordenamiento y acceso lógico a partir de sus descripciones. El mecanismo se sirve de la asignación de los puntos de acceso, que bajo la forma de encabezamientos ofrecen una mayor flexibilidad al fichero. El presente proyecto buscó determinar el tipo de información que puede incluirse en un registro de autoridad de archivos y servir de orientación sobre la forma de integrar estos registros en un sistema descriptivo controlado de historias clínicas. El contenido de la información proporcionada en el registro de autoridad se detalla con ayuda de las reglas nacionales de catalogación, que se basan en normas, directrices, especificaciones y modelos de referencia internacionales.
In order to define a file of patients to act as a catalogue of clinical records, an ordered relationship of all materials in a documentary unit, indicating by symbol: signature or number clinical history the location of documents developed a mechanism serve both for identification as to their logical access from descriptions. The mechanism uses the allocation of access points, which in the form of headings offer greater flexibility to the file. This project sought to determine the type of information that can be included in a register of authority files and provide guidance on how to integrate these records controlled in a descriptive system of medical records. The content of the information provided in the authority record is detailed with the aid of the National Cataloguing Rules, based on standards, guidelines, specifications and international reference models.
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Deletions/duplications in the Duchenne muscular dystrophy (DMD) gene account for 60 to 70% of all alterations. A new technique, multiplex ligation-dependent probe amplification (MLPA), has been described that allows the detection of large genetic rearrangements by simultaneous amplification of up to 45 target sequences. The present article is based on the diagnosis of the first Argentine affected families by the application of MLPA. DNA samples from patients with and without a previous diagnosis were included. MLPA assays were performed according to manufacturer recommendations. Polymerase chain reaction and direct sequencing were performed when a single-exon deletion was detected. Results were analyzed using the Gene Marker v1.6 and Sequencing Analysis v5.2 software. In the samples with a previous diagnosis (as identified by short tandem repeat-polymerase chain reaction analysis), MLPA confirmed in some samples the same deletion and detected in others a larger deleted fragment. This enabled the prediction of the expected male phenotype. One deletion and one duplication were detected in patients without previous diagnosis. In this study, we investigated the applicability of MLPA in our country. Our results showed a 100% confirmation of the deleted fragments detected by short tandem repeat segregation analysis. Moreover, in some cases, the MLPA assay was able to refine the breakpoints involved. In addition, MLPA identified deletions/duplications in samples without previous diagnosis. In comparison to the available diagnosis strategies in Argentina, MLPA is less time-consuming, and spans the complete coding region of DMD. The application of MLPA will improve the genetic diagnosis of DMD/Becker muscular dystrophy in our country.
Subject(s)
Humans , Male , Female , Muscular Dystrophy, Duchenne/diagnosis , Muscular Dystrophy, Duchenne/genetics , Gene Duplication , Sequence Deletion , Argentina , Family Health , Gene Rearrangement , Nucleic Acid Amplification Techniques , SoftwareABSTRACT
The haplotypes of seven Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) were determined in a sample of 634 healthy Brazilian males (190 adult individuals and 222 father-son pairs). The 412 adults were unrelated, and the 222 father-son pairs had their biological relationship confirmed using autosomal STRs (LR > 10,000). Among the 412 adults, a total of 264 different 7-loci haplotypes were identified, 210 of which were unique. The most frequent haplotype was detected in 31 instances, occurring with a frequency of 7.52 percent. The haplotype diversity index was calculated as 98.83 percent. Upon transmission of the 1,554 alleles, in 222 father-son pairs, six mutations were observed, with an average overall rate of 3.86 x 10-3 per locus. A haplotype with a duplicated DYS389I locus, and another with duplicated DYS389I, DYS389II, and DYS439 loci were detected in both fathers and their respective sons.