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1.
Mol Ecol ; 2023 May 16.
Article in English | MEDLINE | ID: mdl-37194086

ABSTRACT

A main goal of evolutionary biology is to understand the genetic basis of adaptive evolution. Although the genes that underlie some adaptive phenotypes are now known, the molecular pathways and regulatory mechanisms mediating the phenotypic effects of those genes often remain a black box. Unveiling this black box is necessary to fully understand the genetic basis of adaptive phenotypes, and to understand why particular genes might be used during phenotypic evolution. Here, we investigated which genes and regulatory mechanisms are mediating the phenotypic effects of the Eda haplotype, a locus responsible for the loss of lateral plates and changes in the sensory lateral line of freshwater threespine stickleback (Gasterosteus aculeatus) populations. Using a combination of RNAseq and a cross design that isolated the Eda haplotype on a fixed genomic background, we found that the Eda haplotype affects both gene expression and alternative splicing of genes related to bone development, neuronal development and immunity. These include genes in conserved pathways, like the BMP, netrin and bradykinin signalling pathways, known to play a role in these biological processes. Furthermore, we found that differentially expressed and differentially spliced genes had different levels of connectivity and expression, suggesting that these factors might influence which regulatory mechanisms are used during phenotypic evolution. Taken together, these results provide a better understanding of the mechanisms mediating the effects of an important adaptive locus in stickleback and suggest that alternative splicing could be an important regulatory mechanism mediating adaptive phenotypes.

2.
Indian J Plast Surg ; 55(1): 75-80, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35444752

ABSTRACT

Introduction Burn wound infection (BWI) is the second most important cause of death in burn patients. There is currently limited data about the incidence and clinical presentation of BWI using quantitative techniques as quantitative biopsy culture (QBC) to prevent progress to burn wound sepsis (BWS). Methods This is a prospective cohort study of patients diagnosed with BWI, confirmed by QBC, from February 2018 to July 2019 at University Hospital of Santander (HUS). The primary outcome was to determine clinical, microbiological, and histopathological characteristics of patients diagnosed with BWI along with a positive QBC and their relationship with early diagnosis and progression to BWS. Results 525 patients were admitted to HUS Burn Center. Of those, 44/525 (8.23%) presented a clinical diagnosis of BWI (median age, 20.5 years [1-67 years]; 25/44 [56.8%] male). QBC was positive in 26/44 (59%), Staphylococcus aureus 14/44 (31.8%), and Pseudomonas aeruginosa 7/44 (15.9%) were the mainly etiological agents isolated. Bacterial resistance to antibiotics was mostly to beta-lactams in 14/44 (31.8%), corresponding to methicillin-resistant Staphylococcus aureus (MRSA). Clinical signs more related to infection were erythema in 33/44 (61.3%). As many as 10/44 (22.7%) progressed to sepsis and 2/44 (6%) died. Conclusion BWI increases hospitalization time and number of surgeries, increasing the risk of sepsis and death. The QBC allows an accurate diagnosis with lesser false-positive cases that impact antibiotic resistance and mortality. Protocols targeting this problem are needed to decrease the impact of this.

3.
J Stroke Cerebrovasc Dis ; 27(11): 3336-3341, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30166211

ABSTRACT

BACKGROUND: Genome-wide expression studies (GWES), using microarray platforms, have allowed a deeper understanding of the molecular factors involved in the pathophysiology of ischemic stroke (IS), one of the main global causes of mortality and disability. METHODS: In the current work, we carried out a meta-analysis of available GWES for IS. Bioinformatics and computational biology analyses were applied to identify enriched functional categories and convergence with other genomic datasets for IS. RESULTS: Three primary datasets were included and in the meta-analyses for GWES and IS, 41 differentially expressed (DE) genes were identified using a random effects model. Thirteen of these genes were downregulated and 28 were upregulated. An analysis of functional categories found a significant enrichment for the Gene Ontology Term "Inflammatory Response" and for binding sites for the PAX2 transcription factor. CONCLUSIONS: The list of DE genes identified in this meta-analysis of GWES for IS is useful for future genetic and molecular studies, which would allow the identification of novel mechanisms involved in the pathophysiology of IS. Several of the DE genes found in this meta-analysis have known functional roles related to mechanisms involved in the pathophysiology of IS. It is recognized the role of the inflammatory response in the pathophysiology of IS.


Subject(s)
Brain Ischemia/genetics , Stroke/genetics , Transcriptome , Aged , Aged, 80 and over , Binding Sites , Brain Ischemia/diagnosis , Brain Ischemia/metabolism , Case-Control Studies , Computational Biology , Databases, Genetic , Female , Gene Expression Profiling/methods , Gene Expression Regulation , Gene Regulatory Networks , Genome-Wide Association Study , Humans , Inflammation/genetics , Inflammation/metabolism , Male , Middle Aged , Oligonucleotide Array Sequence Analysis , PAX2 Transcription Factor/genetics , PAX2 Transcription Factor/metabolism , Stroke/diagnosis
4.
Rev. colomb. ortop. traumatol ; 25(4)dic. 2011. ilus, tab
Article in Spanish | LILACS | ID: lil-639106

ABSTRACT

Introducción: la tendinosis del Aquiles es una condición dolorosa que puede presentarse en pacientes activos e inactivos. Los síntomas pueden ser clasificados según el tiempo de evolución en agudos o crónicos y de acuerdo al sitio anatómico afectado en: intrasubstancia (no insercional) o insercional. La etiología de la tendinosis es multifactorial; las causas que se han postulado son: sobreuso, mala vascularidad, desequilibrio muscular, retracciones del complejo gastrosóleo y mal alineamiento del retropié. El propósito de este estudio es mostrar los resultados obtenidos de una serie de pacientes con tendinosis del Aquiles manejados con la técnica de transferencia del flexor hallucis longus (FHL). Materiales y métodos: un total de 26 pacientes con tendinosis del Aquiles fueron manejados quirúrgicamente mediante transferencia del FHL entre los años 2006 y 2011 en el Centro Médico Imbanaco de la ciudad de Cali. El promedio de edad al momento de la cirugía fue de 53,2 años y el seguimiento posoperatorio fue de 14,5 meses en promedio. Se evaluó la satisfacción del paciente, movilidad, fuerza plantiflexora del tobillo, escala funcional de la AOFAS y escala visual análoga para la evaluación del dolor y la presencia de complicaciones. Resultados: el puntaje promedio en la escala de la AOFAS mejoró de 52,5 (rango de 35 a 65) en el preoperatorio a 91,2 (rango de 50 a 100) en el posoperatorio. Se lograron resultados excelentes y buenos en 24 de 26 pacientes (92 %) (p < 0,001). El dolor mejoró en el 96 % de los pacientes. No hubo necesidad de reintervención en ningún caso. Discusión: todos los pacientes, excepto uno, estuvieron satisfechos con los resultados obtenidos. La transferencia del FHL para el manejo de la tendinosis del Aquiles ha mostrado ser una técnica efectiva con mejoría en la escala de la AOFAS posoperatoria.


Subject(s)
Achilles Tendon , Tendinopathy , Tendon Transfer
5.
Rev. colomb. ortop. traumatol ; 25(3)sept. 2011. ilus, graf
Article in Spanish | LILACS | ID: lil-639100

ABSTRACT

Introducción: el pie de Morton es un síndrome que se presenta con todas o algunas de las siguientes características: retracción de los gastronemios, inestabilidad dolorosa de la primera articulación cuneometatarsiana, metatarso primo varo, hallux valgus (HV) y metatarsalgia del segundo y/o tercer rayo. El pie de Morton es toda una disfunción del antepié que debe tener un abordaje integral de todas las patologías para obtener un resultado satisfactorio y una marcha indolora. El objetivo del presente estudio es evaluar el resultado clínico y funcional de las correcciones realizadas en pies de Morton en el Centro Médico Imbanaco. Materiales y métodos: se presenta una cohorte prospectiva con los resultados clínicos y funcionales de pacientes con patología de pie de Morton llevados a cirugía para corrección del HV y de todas las disfunciones del antepié en el mismo acto entre el 1º de agosto del 2006 y el 30 de noviembre del 2008. Se evaluaron el resultado clínico, la satisfacción de los pacientes con la cirugía y la mejoría en la clase funcional. Resultados: se evaluaron 38 pies en 34 pacientes. El HV promedio pasó de 35° en el preoperatorio a 5° en el posoperatorio. Asimismo, el ángulo intermetatarsiano pasó de 15° a 3°. Hubo mejoría en todas las escalas evaluadas. El dolor (escala visual análoga) pasó de 8,5 a 1,5 a los seis meses. La escala de la AOFAS pasó de un promedio inicial de 59 a uno posquirúrgico a los seis meses de 93. Se evidenció mejoría en la calidad de vida y percepción del estado de salud en la escala SF-36; 45 % de los pacientes consideraron tener un estado físico saludable en un nivel muy alto con actividad deportiva constante y 38 % consideró tener un estado de salud mejor que el año anterior. Se presentó edema posoperatorio en 8 pacientes (25 %), aún después de seis meses. Discusión: este estudio evidenció mejoría en los índices de dolor y recuperación funcional, lográndose adecuadas correcciones de las deformidades, lo cual muestra que la técnica quirúrgica utilizada por los autores para el manejo del pie de Morton fue predecible.


Subject(s)
Foot Deformities, Congenital/surgery , Hallux Valgus/surgery , Joint Instability , Metatarsalgia
6.
Rev. Univ. Ind. Santander, Salud ; 40(1): 37-44, jan.-abr. 2008. tab
Article in Spanish | LILACS | ID: lil-539971

ABSTRACT

Debido a la rica anatomía de la mano, existen lesiones que pueden fácilmente ser pasadas por alto en una primera instancia y posteriormente pueden convertirse en deformaciones y/o alteraciones funcionales significativas de manejo mucho más complejo. A un paciente con trauma de mano se le debe realizar un examen físico completo, evaluando los sistemas vascular, nervioso, músculo-tendinoso y osteoarticular para llegar a un diagnostico acertado e iniciar un manejo temprano y adecuado.


Because of the rich anatomy of the hand there are injuries that can be easily over looked on a first evaluation and can produce significant deformity and functional despair requiring a much more complex approach later on. A patient with hand trauma requires a full physical evaluation, studying its vascular, nervous, tendinomuscular and ostheoarticular systems, in order to reach a right diagnosis and initiate an early and adequate management.


Subject(s)
Hand , Traumatology , Hand Injuries
7.
Plast Reconstr Surg ; 114(1): 21-9; discussion 30-1, 2004 Jul.
Article in English | MEDLINE | ID: mdl-15220562

ABSTRACT

A functional muscle free flap with multiple muscle segments that could be oriented independently to produce different force vectors would be beneficial in facial reanimation and upper extremity reconstruction. The serratus anterior muscle has this potential because two or more individual muscle slips can be transferred on a single vascular pedicle. Although serratus anterior muscular anatomy has been studied previously, little attention has been given to the intramuscular anatomy. Muscle slips 5 through 9 (and 10, if present) in 50 specimens from 27 cadavers were studied following intraarterial latex injection. Eight specimens were injected with a radiopaque material (latex/diatrizoate/lead mixture) for x-ray delineation of the intramuscular vascular pattern. Slips 5 through 9 are consistently supplied by a single dominant branch of the thoracodorsal artery and innervated by the long thoracic nerve. Dissection revealed that the long thoracic nerve and its branches invariably follow the artery and divide proximal to the corresponding arterial division. There is a consistent vascular pattern to each muscle slip, in which the serratus artery gives rise to common slip arteries, each of which supplies adjacent muscle slips. The mean length of a muscle slip from its origin on the rib periosteum to the division of the common slip artery is 9.6 cm. These findings imply that the slips may be separated to the level of these common slip arteries, with up to five slips transferred on a single neurovascular pedicle and each slip oriented independently to provide multiple muscle force vectors. With these possibilities, the reconstructive surgeon may be able to restore more natural facial animation and better intrinsic muscle function in the upper extremity.


Subject(s)
Muscle, Skeletal/blood supply , Muscle, Skeletal/innervation , Surgical Flaps/blood supply , Surgical Flaps/innervation , Adolescent , Adult , Aged , Biomechanical Phenomena , Face/surgery , Hand/surgery , Humans , Middle Aged , Ribs
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