RESUMEN

Acute myeloid leukemia (AML) is the most common hematological cancer in the adult population worldwide. Approximately 35% of patients with AML present internal tandem duplication (ITD) mutations in the FMS­like tyrosine kinase 3 (FLT3) receptor associated with poor prognosis, and thus, this receptor is a relevant target for potential therapeutics. Tyrosine kinase inhibitors (TKIs) are used to treat AML; however, their molecular interactions and effects on leukemic cells are poorly understood. The present study aimed to gain insights into the molecular interactions and affinity forces of four TKI drugs (sorafenib, midostaurin, gilteritinib and quizartinib) with the wild­type (WT)­FLT3 and ITD­mutated (ITD­FLT3) structural models of FLT3, in its inactive aspartic acid­phenylalanine­glycine motif (DFG­out) and active aspartic acid­phenylalanine­glycine motif (DFG­in) conformations. Furthermore, the present study evaluated the effects of the second­generation TKIs gilteritinib and quizartinib on cancer cell viability, apoptosis and proliferation in the MV4­11 (ITD­FLT3) and HL60 (WT­FLT3) AML cell lines. Peripheral blood mononuclear cells (PBMCs) from a healthy volunteer were included as an FLT3­negative group. Molecular docking analysis indicated higher affinities of second­generation TKIs for WT­FLT3/DFG­out and WT­FLT3/DFG­in compared with those of the first­generation TKIs. However, the ITD mutation changed the affinity of all TKIs. The in vitro data supported the in silico predictions: MV4­11 cells presented high selective sensibility to gilteritinib and quizartinib compared with the HL60 cells, whereas the drugs had no effect on PBMCs. Thus, the current study presented novel information about molecular interactions between the FLT3 receptors (WT or ITD­mutated) and some of their inhibitors. It also paves the way for the search for novel inhibitory molecules with potential use against AML.

Asunto(s)

Leucemia Mieloide Aguda , Inhibidores de Proteínas Quinasas , Estaurosporina , Tirosina Quinasa 3 Similar a fms , Humanos , Compuestos de Anilina/farmacología , Antineoplásicos/farmacología , Antineoplásicos/química , Apoptosis/efectos de los fármacos , Benzotiazoles/farmacología , Línea Celular Tumoral , Proliferación Celular/efectos de los fármacos , Supervivencia Celular/efectos de los fármacos , Simulación por Computador , Tirosina Quinasa 3 Similar a fms/antagonistas & inhibidores , Tirosina Quinasa 3 Similar a fms/genética , Tirosina Quinasa 3 Similar a fms/metabolismo , Tirosina Quinasa 3 Similar a fms/química , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/metabolismo , Leucemia Mieloide Aguda/genética , Simulación del Acoplamiento Molecular , Mutación , Compuestos de Fenilurea/farmacología , Inhibidores de Proteínas Quinasas/farmacología , Pirazinas/farmacología , Sorafenib/farmacología , Estaurosporina/análogos & derivados , Estaurosporina/farmacología , Triazinas/farmacología , Triazinas/química

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Congenital malformations are a highly diverse group of conditions reported in both humans and animals, characterized by defects in morphogenesis observed at birth. Although most cases are idiopathic, genetic and environmental factors may be involved. The frequency of such conditions varies with species, geographic regions, and the specific malformation involved. In polymelia, supernumerary limbs are attached to different parts of the body. Gastrointestinal duplications are described less frequently and can be associated with polymelia. Cloacal atresia is among the least-reported malformations in avian species, described only once in a kiwi. Here we describe a case with these 3 malformations in a single broiler chick (Gallus gallus domesticus) and provide a literature review about the occurrence of these malformations in birds. The 3-d-old chick also had an unidentified structure projecting from the pygostyle region. We performed clinical, radiographic, and postmortem examinations. The intestinal duplication was identified only during the postmortem evaluation. Detailed descriptions of avian congenital malformations are scarce. Although similar cases have been reported, we retrieved no cases of concurrent polymelia, intestinal duplication, and cloacal atresia in broiler chickens in our literature search, suggesting that the simultaneous occurrence of these conditions has not been reported previously in this species.

Asunto(s)

Pollos , Cloaca , Animales , Pollos/anomalías , Cloaca/anomalías , Intestinos/anomalías , Intestinos/patología , Enfermedades de las Aves de Corral/patología

RESUMEN

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.

Asunto(s)

Cromosomas Humanos Par 8 , Humanos , Femenino , Masculino , Cromosomas Humanos Par 8/genética , Adulto , Inversión Cromosómica/genética , Microcefalia/genética , Microcefalia/patología , Duplicación Cromosómica/genética , Niño , Preescolar

RESUMEN

The accumulation of proline in response to the most diverse types of stress is a widespread defense mechanism. In prokaryotes, fungi, and certain unicellular eukaryotes (green algae), the first two reactions of proline biosynthesis occur through two distinct enzymes, γ-glutamyl kinase (GK E.C. 2.7.2.11) and γ-glutamyl phosphate reductase (GPR E.C. 1.2.1.41), encoded by two different genes, ProB and ProA, respectively. Plants, animals, and a few unicellular eukaryotes carry out these reactions through a single bifunctional enzyme, the Δ1-pyrroline-5-carboxylate synthase (P5CS), which has the GK and GPR domains fused. To better understand the origin and diversification of the P5CS gene, we use a robust phylogenetic approach with a broad sampling of the P5CS, ProB and ProA genes, including species from all three domains of life. Our results suggest that the collected P5CS genes have arisen from a single fusion event between the ProA and ProB gene paralogs. A peculiar fusion event occurred in an ancestral eukaryotic lineage and was spread to other lineages through horizontal gene transfer. As for the diversification of this gene family, the phylogeny of the P5CS gene in plants shows that there have been multiple independent processes of duplication and loss of this gene, with the duplications being related to old polyploidy events.

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Mitochondrial DNA is a valuable tool for population genetics and evolutionary studies in a wide range of organisms. With advancements in sequencing techniques, it's now possible to gain deeper insights into this molecule. By understanding how many genes there are, how they're organized within the molecule, identifying the presence of spacers, and analyzing the composition of the D-Loop, we can better grasp the rearrangements that play a crucial role in the evolutionary dynamics of mitochondrial DNA. Additionally, phylogenetic analyses benefit significantly from having access to a larger pool of mtDNA genes. This wealth of genetic information allows for the establishment of evolutionary relationships with greater accuracy than ever before, providing a more robust framework than analyses based on a limited number of genes. Studies on mitogenomes belonging to the family Formicidae have proven promising, enabling the identification of gene rearrangements and enhancing our understanding of the internal relationships within the group. Despite this, the number of mitogenomes available for the subfamily Ponerinae is still limited, and here we present for the first time the complete mitogenome of Odontomachus. Our data reveal a gene duplication event in Formicidae, the first involving trnV, and new gene arrangements involving the trnM-trnI-trnQ and trnW-trnC-trnY clusters, suggesting a possible synapomorphy for the genus. Our phylogenetic analysis using the PCGs available for Formicidae supports the monophyly of the subfamily Ponerinae and sheds light on the relationship between Odontomachus and Pachycondyla.

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Microbial lipases play a pivotal role in a wide range of biotechnological processes and in the human skin microbiome. However, their evolution remains poorly understood. Accessing the evolutionary process of lipases could contribute to future applications in health and biotechnology. We investigated genetic events associated with the evolutionary trajectory of the microbial family LIP lipases. Using phylogenetic analysis, we identified two distinct horizontal gene transfer (HGT) events from Bacteria to Fungi. Further analysis of human cutaneous mycobiome members such as the lipophilic Malassezia yeasts and CUG-Ser-1 clade (including Candida sp. and other microorganisms associated with cutaneous mycobiota) revealed recent evolutionary processes, with multiple gene duplication events. The Lid region of fungal lipases, crucial for substrate interaction, exhibits varying degrees of conservation among different groups. Our findings suggest the adaptability of the fungal LIP family in various genetic and metabolic contexts and its potential role in niche exploration.

Asunto(s)

Evolución Molecular , Transferencia de Gen Horizontal , Humanos , Filogenia , Bacterias/genética , Duplicación de Gen

RESUMEN

Copy number variation is a common contributor to phenotypic diversity, yet its involvement in ecological adaptation is not easily discerned. Instances of parallelly evolving populations of the same species in a similar environment marked by strong selective pressures present opportunities to study the role of copy number variants (CNVs) in adaptation. By identifying CNVs that repeatedly occur in multiple populations of the derived ecotype and are not (or are rarely) present in the populations of the ancestral ecotype, the association of such CNVs with adaptation to the novel environment can be inferred. We used this paradigm to identify CNVs associated with recurrent adaptation of the Mexican tetra (Astyanax mexicanus) to cave environment. Using a read-depth approach, we detected CNVs from previously re-sequenced genomes of 44 individuals belonging to two ancestral surfaces and three derived cave populations. We identified 102 genes and 292 genomic regions that repeatedly diverge in copy number between the two ecotypes and occupy 0.8% of the reference genome. Functional analysis revealed their association with processes previously recognized to be relevant for adaptation, such as vision, immunity, oxygen consumption, metabolism, and neural function and we propose that these variants have been selected for in the cave or surface waters. The majority of the ecotype-divergent CNVs are multiallelic and display copy number increases in cavefish compared to surface fish. Our findings suggest that multiallelic CNVs - including gene duplications - and divergence in copy number provide a fast route to produce novel phenotypes associated with adaptation to subterranean life.

Asunto(s)

Cuevas , Characidae , Variaciones en el Número de Copia de ADN , Variaciones en el Número de Copia de ADN/genética , Animales , Characidae/genética , Genética de Población , Adaptación Fisiológica/genética , Ecotipo , México

RESUMEN

KEY MESSAGE: The shock produced by the allopolyploidization process on a potato interspecific diploid hybrid displays a non-random remobilization of the small RNAs profile on a variety of genomic features. Allopolyploidy, a complex process involving interspecific hybridization and whole genome duplication, significantly impacts plant evolution, leading to the emergence of novel phenotypes. Polyploids often present phenotypic nuances that enhance adaptability, enabling them to compete better and occasionally to colonize new habitats. Whole-genome duplication represents a genomic "shock" that can trigger genetic and epigenetic changes that yield novel expression patterns. In this work, we investigate the polyploidization effect on a diploid interspecific hybrid obtained through the cross between the cultivated potato Solanum tuberosum and the wild potato Solanum kurtzianum, by assessing the small RNAs (sRNAs) profile of the parental diploid hybrid and its derived allopolyploid. Small RNAs are key components of the epigenetic mechanisms involved in silencing by RNA-directed DNA Methylation (RdDM). A sRNA sequencing (sRNA-Seq) analysis was performed to individually profile the 21 to 22 nucleotide (21 to 22-nt) and 24-nt sRNA size classes due to their unique mechanism of biogenesis and mode of function. The composition and distribution of different genomic features and differentially accumulated (DA) sRNAs were evaluated throughout the potato genome. We selected a subset of genes associated with DA sRNAs for messenger RNA (mRNA) expression analysis to assess potential impacts on the transcriptome. Interestingly, we noted that 24-nt DA sRNAs that exclusively mapped to exons were correlated with differentially expressed mRNAs between genotypes, while this behavior was not observed when 24-nt DA sRNAs were mapped to intronic regions. These findings collectively emphasize the nonstochastic nature of sRNA remobilization in response to the genomic shock induced by allopolyploidization.

Asunto(s)

ARN Pequeño no Traducido , Solanum tuberosum , Solanum tuberosum/genética , Diploidia , Genoma , Genómica , ARN Mensajero , ARN Pequeño no Traducido/genética

RESUMEN

[This corrects the article DOI: 10.3389/fpls.2023.1276727.].

RESUMEN

Odysseus (OdsH) was the first speciation gene described in Drosophila related to hybrid sterility in offspring of mating between Drosophila mauritiana and Drosophila simulans. Its origin is attributed to the duplication of the gene unc-4 in the subgenus Sophophora. By using a much larger sample of Drosophilidae species, we showed that contrary to what has been previously proposed, OdsH origin occurred 62 MYA. Evolutionary rates, expression, and transcription factor-binding sites of OdsH evidence that it may have rapidly experienced neofunctionalization in male sexual functions. Furthermore, the analysis of the OdsH peptide allowed the identification of mutations of D. mauritiana that could result in incompatibility in hybrids. In order to find if OdsH could be related to hybrid sterility, beyond Sophophora, we explored the expression of OdsH in Drosophila arizonae and Drosophila mojavensis, a pair of sister species with incomplete reproductive isolation. Our data indicated that OdsH expression is not atypical in their male-sterile hybrids. In conclusion, we have proposed that the origin of OdsH occurred earlier than previously proposed, followed by neofunctionalization. Our results also suggested that its role as a speciation gene might be restricted to D. mauritiana and D. simulans.

Asunto(s)

Proteínas de Drosophila , Infertilidad , Animales , Masculino , Evolución Biológica , Drosophila/genética , Proteínas de Drosophila/genética , Hibridación Genética

RESUMEN

ABSTRACT A 19-year-old pregnant woman was admitted to our ultrasound department at 20.4 weeks of gestation. Prenatal sonography identified a fetus with trigonocephaly, an omphalocele protruding out of the abdominal wall, on the right side of the umbilical cord, that contained the liver and bowel, claw hand and bot foot. Amniocentesis revealed an unbalanced chromosome constitution 46,XX,der(11)t(3,11)(q22.2,q24.3) resulting in a deletion of 11q24.3 to 11qter and a duplication of 3q22.2 to 3qter product of a "de novo imbalanced translocation"; the parents' karyotypes were normal. The chromosome microarray results for the proband revealed a 63.07 Mb duplication in the chromosome 3 located at 3q22.2 to terminal 3q29; a 4.08 Mb deletion in the chromosome 11 located at 11q25, and a 5.66 Mb loss in the chromosome 10 located at 10q25.1 to 10q25.2. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.

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RESUMEN Una embarazada de 19 años ingresó en nuestro servicio de ultrasonido a las 20,4 semanas de gestación. La ecografía prenatal identificó un feto con trigonocefalia, un onfalocele que sobresalía de la pared abdominal, en el lado derecho del cordón umbilical, que contenía el hígado y el intestino, una mano en garra y un pie bot. La amniocentesis reveló una constitución cromosómica desequilibrada 46,XX,der(11)t(3,11)(q22.2,q24.3) que resultó en una deleción de 11q24.3 a 11qter y una duplicación de 3q22.2 a 3qter producto de una "translocación desequilibrada de novo"; los cariotipos de los padres eran normales. Los resultados del microarreglo cromosómico para el probando revelaron una duplicación de 63,07 Mb en el cromosoma 3 ubicado en 3q22.2 a terminal 3q29; una deleción de 4,08 Mb en el cromosoma 11 ubicado en 11q25 y una pérdida de 5,66 Mb en el cromosoma 10 ubicado en 10q25.1 a 10q25.2. Hasta donde sabemos, este es el primer informe de esta combinación de anomalías cromosómicas.

RESUMEN

Introduction: The phenomenal expansion of angiosperms has prompted many investigations into the factors driving their diversification, but there remain significant gaps in our understanding of flowering plant species diversity. Methods: Using the crown age of families from five studies, we used a maximum likelihood approach to classify families as having poor, predicted or high species richness (SR) using strict consensus criteria. Using these categories, we looked for associations between family SR and i) the presence of an inferred familial ancestral polyploidization event, ii) 23 life history and floral traits compiled from previously published datasets and papers, and iii) sexual system (dioecy) or genetically determined self-incompatibility (SI) mating system using an updated version of our own database and iv) geographic distribution using a new database describing the global distribution of plant species/families across realms and biomes and inferred range. Results: We find that more than a third of angiosperm families (65%) had predicted SR, a large proportion (30.2%) were species poor, while few (4.8%) had high SR. Families with poor SR were less likely to have undergone an ancestral polyploidization event, exhibited deficits in diverse traits, and were more likely to have unknown breeding systems and to be found in only one or few biomes and realms, especially the Afrotropics or Australasia. On the other hand, families with high SR were more likely to have animal mediated pollination or dispersal, are enriched for epiphytes and taxa with an annual life history, and were more likely to harbour sporophytic SI systems. Mapping the global distribution of georeferenced taxa by their family DR, we find evidence of regions dominated by taxa from lineages with high vs low SR. Discussion: These results are discussed within the context of the literature describing "depauperons" and the factors contributing to low and high biodiversity in angiosperm clades.

RESUMEN

Some, probably most and perhaps all, members of the phylum Nemertea are poisonous, documented so far from marine and benthic specimens. Although the toxicity of these animals has been long known, systematic studies on the characterization of toxins, mechanisms of toxicity, and toxin evolution for this group are scarce. Here, we present the first investigation of the molecular evolution of toxins in Nemertea. Using a proteo-transcriptomic approach, we described toxins in the body and poisonous mucus of the pilidiophoran Lineus sanguineus and the hoplonemertean Nemertopsis pamelaroeae. Using these new and publicly available transcriptomes, we investigated the molecular evolution of six selected toxin gene families. In addition, we also characterized in silico the toxin genes found in the interstitial hoplonemertean, Ototyphlonemertes erneba, a meiofaunal taxa. We successfully identified over 200 toxin transcripts in each of these species. Evidence of positive selection and gene duplication was observed in all investigated toxin genes. We hypothesized that the increased rates of gene duplications observed for Pilidiophora could be involved with the expansion of toxin genes. Studies concerning the natural history of Nemertea are still needed to understand the evolution of their toxins. Nevertheless, our results show evolutionary mechanisms similar to other venomous groups.

Asunto(s)

Toxinas Biológicas , Ponzoñas , Animales , Ponzoñas/genética , Duplicación de Gen , Transcriptoma , Perfilación de la Expresión Génica , Filogenia , Evolución Molecular

RESUMEN

BACKGROUND: Parapagus diprosopus are conjoined twins characterized by craniofacial duplication and only one body, representing one of the rarest types of these twins. Their occurrence has been recorded in different species of vertebrates, including humans, but few cases have been studied in domestic pigs. CASE: A pair of conjoined twin pigs was studied using x-rays, computed tomography, and necropsy. The abnormalities found were compared with those of the rare swine cases presented in the literature as well as with other species, and the different etiopathogenetic possibilities were addressed. The degree of duplication of the head bones decreased caudally, as did that of the structures of the central nervous system. In the two oral cavities, there was a complete cleft palate. All the cervical vertebrae and thoracic vertebrae up to T3 were partially duplicated. The heart and great vessels were normal, as were the other thoracic and abdominal organs. CONCLUSIONS: The conjoined twin pigs of this study are a case of parapagus diprosopus tetraophthalmus triotus, presenting the same pattern of abnormalities of human diprosopus and that of other species. The scarcity of detailed studies on craniofacial duplication in pigs and the lack of a definitive explanation on the etiology and pathogenesis of conjoined twins shows the need for further research and the publication of more cases.

Asunto(s)

Fisura del Paladar , Gemelos Siameses , Humanos , Porcinos , Animales , Sus scrofa , Fisura del Paladar/patología , Tomografía Computarizada por Rayos X

RESUMEN

Introduction: The pure interstitial trisomy 11q11q23.2 is an uncommon genomic disorder associated with nonrecurrent intrachromosomal duplications. The phenotype is characterized by intellectual disability and craniofacial abnormalities. Given their uncommonness, a comprehensive genotype-phenotype correlation has not fully been defined. Case Presentation: We report the clinical and cytogenomic characterization of a 5-year-old boy with intellectual disability, psychomotor retardation, craniofacial dysmorphism, genital anomalies, and pure interstitial trisomy 11q arising from a nonrecurrent 11q13.1q22.3 intrachromosomal duplication in a high-mosaic state (>80%). The duplicated chromosome was characterized by cytogenetics, multicolor banding FISH, and SNP array. We demonstrated the wide mosaic distribution of the 11q duplication by interphase FISH in tissues from different embryonic germ layers. The duplication involves a copy number gain of 45.3 Mb containing 22 dosage-sensitive genes. We confirmed the overexpression of dosage-sensitive genes along the duplicated region using RT-qPCR. Discussion: Only 8 patients have been described. Our patient shares clinical features with previous reports but differs from them by the presence of genital anomalies. We provide a detailed clinical review and an accurate genotype-phenotype correlation and propose PC, NDUFV1, FGF3, FGF4, and DHCR7 as dosage-sensitive genes with a possible role in the clinical spectrum of our patient; however, expression changes of FGF3/4 were not detected since they must be regulated in a spatiotemporal way. This patient contributes to the accurate description of the pure interstitial trisomy 11q. Future reports could continue to delineate the description, considering the relationship between the chromosome segment and the genes involved.

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Objectives: To describe the use of the B-Lynch suture in a case of postpartum hemorrhage of a woman with bicornuate uterus, and to carry out a review of the literature on PPH control strategies in patients with müllerian anomalies, maternal outcomes in terms of hemorrhage control, as well as early and late complications. Material and methods: Case report of a patient with bicornuate uterus who presented to a regional referral hospital with postpartum hemorrhage following a cesarean section, which was successfully controlled using the B-Lynch suture. A search was conducted in the PubMed, Embase, Medline, Google Scholar and LILACS databases. The MeSh terms used were: "Uterine Atony," "Postpartum Hemorrhage," "Immediate Postpartum Hemorrhage," "Bicornuate Uterus," "Müllerian Anomalies," "Müllerian Duct Abnormalities". Case reports and case series of patients with müllerian malformations and PPH not responding to initial pharmacological management in whom conservative surgical procedures were used to control bleeding were included. A narrative analysis of the findings was carried out based on study characteristics, techniques used and complications. Results: Five studies were selected, 4 case reports and 1 case series which included 12 women with uterine malformations who developed PPH and in whom surgical management (uterine compression sutures) or devices (intrauterine balloon) were used for hemorrhage control. Bleeding was successfully controlled in 11 cases, with hysterectomy required only in one case (8.3 %). No long-term complications were reported. Conclusions: The literature on PPH management in women with müllerian uterine malformations is limited to case reports in which either compression sutures or medical devices such as intrauterine balloons were used. The B-Lynch-type compression suture appears to be a good option for controlling PPH in these women in order to preserve fertility, with a low rate of complications. Further documentation of these types of cases is needed in order to build the evidence regarding the usefulness of this technique for controlling postpartum uterine bleeding in this population.

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Objetivos: describir un caso de manejo con sutura de B-Lynch en una mujer con útero bicorne que presenta hemorragia posparto (HPP), y realizar una revisión de la literatura acerca de las estrategias de control quirúrgico de la HPP en pacientes con malformaciones müllerianas, los resultados maternos en términos de control de la hemorragia, así como las complicaciones tempranas y tardías. Materiales y métodos: se reporta el caso de una paciente con útero bicorne, atendida en un hopsital de referencia regional, que, posterior a parto por cesárea, presenta hemorragia posparto, la cual es controlada con éxito empleando la sutura de B-Lynch. Se realizó una búsqueda en las siguientes bases de datos: PubMed, Embase, Medline, Google Scholar y LILACS. Se emplearon los términos MeSh: "Uterine Atony", "Postpartum Hemorrhage", "Immediate Postpartum Hemorrhage", "Bicornuate Uterus", "Mullerian Anomalies", "Mullerian Ducts Abnormalities", "Uterine Compression Suture". Se incluyeron reportes y series de casos que hubieran incluido pacientes con malformaciones müllerianas con HPP que no respondieran al manejo farmacológico inicial, con uso de procedimientos quirúrgicos conservadores para el control de la hemorragia. Se hace análisis narrativo de los hallazgos respecto a las características de los estudios, técnicas utilizadas y complicaciones. Resultados: se seleccionaron 5 estudios, 4 de tipo reporte de caso y 1 serie de casos, que corresponden a 12 mujeres con malformación uterina que desarrollaron HPP, en las cuales se empleó manejo quirúrgico (suturas de compresión uterina), y con dispositivo (tipo balón intrauterino) para el control de la hemorragia, logrando controlar el sangrado en 11 casos, solo una (8,3 %) requirió histerectomía. No se reportan complicaciones a largo plazo. Conclusiones: el manejo de la HPP en mujeres con malformaciones uterinas müllerianas cuenta con una literatura limitada a reportes de casos, con uso tanto de suturas compresivas como dispositivos médicos tipo balones intrauterinos. La sutura compresiva tipo B-Lynch parece ser una buena alternativa en el control de la HPP en estas mujeres con el fin de preservar la fertilidad, con baja tasa de complicaciones. Se requiere continuar documentando este tipo de casos con el fin de consolidar evidencia de la utilidad de esta técnica en el control del sangrado uterino posparto en esta población.

Asunto(s)

Útero Bicorne , Hemorragia Posparto , Femenino , Humanos , Embarazo , Cesárea , Resultado del Tratamiento , Técnicas de Sutura/efectos adversos , Suturas/efectos adversos

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Intrachromosomal insertions are complex structural rearrangements that are challenging to interpret using classical cytogenetic methods. We report a male patient carrying a recombinant X chromosome derived from a maternally inherited intrachromosomal insertion. The patient exhibited developmental delay, intellectual disability, behavioral disorder, and dysmorphic facial features. To accurately identify the rearrangements in the abnormal X chromosome, additional cytogenetic studies were conducted, including fluorescence in situ hybridization (FISH), multicolor-banding FISH, and array comparative genomic hybridization. The results showed a recombinant X chromosome, resulting in a 13.05 Mb interstitial duplication of segment Xp22.33-Xp22.13, which was inserted at cytoband Xq26.1. The duplicated region encompasses 99 genes, some of which are associated with the patient's clinical manifestations. We propose that the combined effects of the Xp-duplicated genes may contribute to the patient's phenotype.

Asunto(s)

Aberraciones Cromosómicas , Discapacidad Intelectual , Humanos , Masculino , Hibridación Fluorescente in Situ , Hibridación Genómica Comparativa , Análisis Citogenético , Discapacidad Intelectual/genética , Cromosomas Humanos X/genética , Duplicación Cromosómica

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BACKGROUND: Esophageal duplication cysts are rare congenital tumors usually diagnosed and treated during childhood. Most of them are located in the mediastinum and appear as a mass besides the esophagus. Unfortunately, symptoms are non-specific and depend on the size and location of the mass; therefore, they can easily be missed. If symptoms appear, surgical resection is necessary to prevent troublesome complications. CASE PRESENTATION: We present the case of a 60-year-old woman who presented with severe progressive dysphagia and epigastric pain. After further evaluation, a paraesophageal cystic mass was found, and surgery was required. Non-communicating esophageal duplication cyst was the final diagnosis. CONCLUSION: Esophageal duplication cysts are a rare pathology in adults; their symptoms will vary depending on their size and location. Preoperative diagnosis is difficult as symptoms are non-specific and can be missed. If severe dysphagia, pain, or any other complication appears, surgery should not be delayed.

Asunto(s)

Trastornos de Deglución , Quiste Esofágico , Adulto , Femenino , Humanos , Persona de Mediana Edad , Trastornos de Deglución/etiología , Quiste Esofágico/complicaciones , Quiste Esofágico/diagnóstico , Quiste Esofágico/cirugía , Esofagoscopía , Dolor

RESUMEN

Objetivos: Describir un caso de manejo con sutura de B-Lynch en una mujer con útero bicorne que presenta hemorragia posparto (HPP), y realizar una revisión de la literatura acerca de las estrategias de control quirúrgico de la HPP en pacientes con malformaciones müllerianas, los resultados maternos en términos de control de la hemorragia, así como las complicaciones tempranas y tardías. Materiales y métodos: Se reporta el caso de una paciente con útero bicorne, atendida en un hopsital de referencia regional, que, posterior a parto por cesárea, presenta hemorragia posparto, la cual es controlada con éxito empleando la sutura de B-Lynch. Se realizó una búsqueda en las siguientes bases de datos: PubMed, Embase, Medline, Google Scholar y LILACS. Se emplearon los términos MeSh: "Uterine Atony", "Postpartum Hemorrhage", "Immediate Postpartum Hemorrhage", "Bicornuate Uterus", "Mullerian Anomalies", "Mullerian Ducts Abnormalities", "Uterine Compression Suture". Se incluyeron reportes y series de casos que hubieran incluido pacientes con malformaciones müllerianas con HPP que no respondieran al manejo farmacológico inicial, con uso de procedimientos quirúrgicos conservadores para el control de la hemorragia. Se hace análisis narrativo de los hallazgos respecto a las características de los estudios, técnicas utilizadas y complicaciones. Resultados: Se seleccionaron 5 estudios, 4 de tipo reporte de caso y 1 serie de casos, que corresponden a 12 mujeres con malformación uterina que desarrollaron HPP, en las cuales se empleó manejo quirúrgico (suturas de compresión uterina), y con dispositivo (tipo balón intrauterino) para el control de la hemorragia, logrando controlar el sangrado en 11 casos, solo una (8,3 %) requirió histerectomía. No se reportan complicaciones a largo plazo. Conclusiones: El manejo de la HPP en mujeres con malformaciones uterinas müllerianas cuenta con una literatura limitada a reportes de casos, con uso tanto de suturas compresivas como dispositivos médicos tipo balones intrauterinos. La sutura compresiva tipo B-Lynch parece ser una buena alternativa en el control de la HPP en estas mujeres con el fin de preservar la fertilidad, con baja tasa de complicaciones. Se requiere continuar documentando este tipo de casos con el fin de consolidar evidencia de la utilidad de esta técnica en el control del sangrado uterino posparto en esta población.

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Objectives: To describe the use of the B-Lynch suture in a case of postpartum hemorrhage of a woman with bicornuate uterus, and to carry out a review of the literature on PPH control strategies in patients with müllerian anomalies, maternal outcomes in terms of hemorrhage control, as well as early and late complications. Material and methods: Case report of a patient with bicornuate uterus who presented to a regional referral hospital with postpartum hemorrhage following a cesarean section, which was successfully controlled using the B-Lynch suture. A search was conducted in the PubMed, Embase, Medline, Google Scholar and LILACS databases. The MeSh terms used were: "Uterine Atony," "Postpartum Hemorrhage," "Immediate Postpartum Hemorrhage," "Bicornuate Uterus," "Müllerian Anomalies," "Müllerian Duct Abnormalities". Case reports and case series of patients with müllerian malformations and PPH not responding to initial pharmacological management in whom conservative surgical procedures were used to control bleeding were included. A narrative analysis of the findings was carried out based on study characteristics, techniques used and complications. Results: Five studies were selected, 4 case reports and 1 case series which included 12 women with uterine malformations who developed PPH and in whom surgical management (uterine compression sutures) or devices (intrauterine balloon) were used for hemorrhage control. Bleeding was successfully controlled in 11 cases, with hysterectomy required only in one case (8.3 %). No long-term complications were reported. Conclusions: The literature on PPH management in women with müllerian uterine malformations is limited to case reports in which either compression sutures or medical devices such as intrauterine balloons were used. The B-Lynch-type compression suture appears to be a good option for controlling PPH in these women in order to preserve fertility, with a low rate of complications. Further documentation of these types of cases is needed in order to build the evidence regarding the usefulness of this technique for controlling postpartum uterine bleeding in this population.

Asunto(s)

Humanos , Femenino , Embarazo , Útero Bicorne

RESUMEN

Las duplicaciones intestinales constituyen malformaciones quísticas o tubulares, que pueden aparecer en proximidad en todo el tubo digestivo. El abordaje videoasistido transumbilical combina las ventajas conocidas de la cirugía mínima invasiva convencional con el ahorro de tiempo y costo de material de la cirugía abierta. Se reporta el caso de pre- escolar masculino de 4 años de edad quien presentó varios episodios de dolor abdominal difuso acompañado de vómitos e hiporexia de 4 meses de evolución. Los estudios de imagen revelaron lesión de ocupación de espacio quística en hemiabdomen inferior derecho. Se realizó laparoscopia diagnóstica más resección transumbilical de lesión sacular del borde mesentérico del íleon, a 60 cm de la válvula ileocecal, así como anastomosis ileoileal termino-terminal. El paciente egresó al quinto día post-operatorio en óptimas condiciones. La biopsia reportó duplicación intestinal tipo tubular no comunicante. Concluimos que este abordaje es factible y ventajoso en el paciente pediátrico(AU)

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Intestinal duplications are cystic or tubular malformations, which can appear in proximity to the entire digestive tract. The transumbilical video-assisted approach combines the known advantages of conventional minimally invasive surgery with the savings in time and material cost of open surgery. The case of a 4-year-old male preschooler who presented several episodes of diffuse abdominal pain accompanied by vomiting and hyporexia of 4 months of evolution is reported. Imaging studies revealed cystic space-occupying lesion in the lower right abdomen. Diagnostic laparoscopy plus transumbilical resection of a saccular lesion located on the mesenteric edge of the ileum, nearly 60 cm from the ileocecal valve, and a two layer end-to-end ileo-ileal anastomosis was performed. The patient was discharged on the fifth postoperative day in optimal conditions. The biopsy reported noncommunicating tubular type intestinal duplication. We conclude that this approach is feasible and advantageous in the pediatric patient(AU)

Asunto(s)

Humanos , Masculino , Preescolar , Procedimientos Quirúrgicos Mínimamente Invasivos , Cirugía Asistida por Video , Tracto Gastrointestinal/anomalías , Mesenterio , Anomalías Congénitas , Vómitos , Laparoscopía , Íleon