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1.
Acta Ortop Mex ; 38(1): 10-14, 2024.
Artículo en Español | MEDLINE | ID: mdl-38657146

RESUMEN

INTRODUCTION: health promotion policy requires the identification of barriers to the adoption of public policies. Paraguay's national healthcare system is inequitable, expensive, and inefficient. The Ministry of Public Health and Social Welfare (MSPyBS) is the entity responsible for covering the needs of a significant portion of the population. In January 2022, the MSPyBS financed the purchase of titanium elastic nails through a National Public Tender for Osteosynthesis Materials (LPN 02/22) to provide them for free in the pediatric service. Using research as a tool, we seek to analyze the impact of the implementation of LPN 02/22 at the Trauma Hospital, believing that this action would help streamline administrative and bureaucratic processes, making them more efficient with the assistance of the hospital's human resources. MATERIAL AND METHODS: a retrospective, analytical, and comparative study conducted at a high-complexity trauma center in Asunción, Paraguay. Patients aged 4 to 14 years with an indication for stabilization with elastic nails were included. Demographic data, the mechanism of injury, time elapsed from hospital arrival to surgical treatment, length of hospital stay, and the average hospital cost were analyzed based on the daily expense of pediatric patient hospitalization. RESULTS: 52 patients, divided into 25 cases in 2021 before implementation and 27 cases after implementation. The time elapsed from hospital arrival to definitive treatment was six days in the pre-implementation period, with an average stay from admission to discharge of 7.4 days. After implementation, the time from hospital arrival to definitive treatment was 4.3 days, and the average discharge time for the Post group was six days. The potential savings per patient amount to 332 dollars, offset by the institution's implant supply cost of 197 dollars, resulting in an approximate savings of 135 dollars per patient for the ministry. CONCLUSIONS: we view the implementation of free titanium elastic nails for pediatric femur fracture patients positively. We encourage the institution to continue with similar policies and strive to achieve even greater benefits for users.


INTRODUCCIÓN: la política de promoción de la salud requiere la identificación de los obstáculos para la adopción de políticas públicas. El sistema nacional de salud de Paraguay es inequitativo, caro e ineficiente. El Ministerio de Salud Pública y Bienestar Social (MSPyBS) es el ente que cubre las necesidades de gran parte de la población. El MSPyBS en Enero del 2022 financió, mediante la Licitación Pública Nacional de Materiales de Osteosíntesis (LPN 02/22), la compra de clavos elásticos de titanio para disponer de su uso gratuito en el Servicio de Pediatría; usando a la investigación como herramienta, buscamos analizar el impacto de la implementación de la LPN 02/22 en el Hospital de Trauma, creyendo que esta acción ayudaría a dinamizar los procesos administrativos y burocráticos, haciéndolos más eficientes con la ayuda de los recursos humanos del hospital. MATERIAL Y MÉTODOS: estudio retrospectivo, analítico y comparativo, realizado en un centro de trauma de alta complejidad de Asunción, Paraguay. Fueron incluidos los pacientes con edad comprendidas entre cuatro y 14 años, con indicación de estabilización con clavos elásticos. Se analizaron los datos demográficos, el mecanismo de trauma, el tiempo transcurrido desde la llegada al hospital hasta el tratamiento quirúrgico, así como el tiempo de estadía hospitalaria. Se evaluó el costo hospitalario promedio, basados en el gasto diario de la internación de un paciente pediátrico. RESULTADOS: cincuenta y dos pacientes, separados en 25 casos en el 2021 previo a la implementación y 27 casos posterior a la implementación. El tiempo transcurrido desde la llegada al hospital hasta el tratamiento definitivo fue de seis días para la etapa previa a la implementación; el promedio desde el ingreso hasta el alta fue de 7.4 días. Desde la implementación se tuvo un transcurso de 4.3 días desde la llegada al hospital hasta el tratamiento definitivo. El egreso del grupo Post tuvo un promedio de seis días. El ahorro probable en relación con cada paciente es de 332 dólares; a esto debemos contrarrestar el monto que paga la institución para la provisión del implante (197 dólares), por lo que el ahorro del ministerio sería de aproximadamente 135 dólares por cada paciente. CONCLUSIONES: vemos como positiva la implementación de la gratuidad de los clavos elásticos de titanio en los pacientes en edad pediátrica con fractura de fémur. Alentamos a la institución a seguir con políticas similares y tratar de lograr mayores beneficios para los usuarios.


Asunto(s)
Fracturas del Fémur , Humanos , Niño , Estudios Retrospectivos , Adolescente , Preescolar , Femenino , Masculino , Fracturas del Fémur/cirugía , Fracturas del Fémur/economía , Paraguay , Tiempo de Internación/estadística & datos numéricos , Clavos Ortopédicos , Fijación Interna de Fracturas/métodos , Fijación Interna de Fracturas/economía , Fijación Interna de Fracturas/instrumentación , Costos de Hospital/estadística & datos numéricos , Centros Traumatológicos/organización & administración , Titanio
3.
Semergen ; 43(3): 216-221, 2017 Apr.
Artículo en Español | MEDLINE | ID: mdl-26762676

RESUMEN

The incidence of skin cancer has been gradually increasing worldwide since the 1960s. It is currently a health and economic problem for the different health systems. Dermoscopy is a non-invasive in vivo diagnostic technique, developed to study skin lesions. It improves the diagnostic accuracy of hyperpigmented lesions, as well as an early diagnosis of potentially malignant lesions, especially melanoma. The time spent on physical examination is not significantly increased. New applications have currently been discovered for this technique. Dermoscopy requires a learning process. Due to the complexity of the topic, the text has been divided into 2 parts to try to simplify its presentation. This first part will focus on the more technical aspects and the characteristics of the device called dermoscope. In the second part, 2 diagnostical methods will be presented along with their easy interpretation and usefulness in Primary Care.


Asunto(s)
Dermoscopía/métodos , Melanoma/diagnóstico , Neoplasias Cutáneas/diagnóstico , Dermoscopía/instrumentación , Humanos , Melanoma/patología , Atención Primaria de Salud/métodos , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/patología , Neoplasias Cutáneas/patología
4.
Semergen ; 43(4): 312-317, 2017.
Artículo en Español | MEDLINE | ID: mdl-26775539

RESUMEN

Dermoscopy (DS) is an in vivo non-invasive diagnostic technique developed to study skin lesions. It improves the diagnostic accuracy of hyperpigmented lesions and early diagnosis of potentially malignant lesions, especially melanoma. It uses a device called a dermoscope to display deeper skin structures not visible to the naked eye, called dermoscopic structures. Only some of them have histological significance, basing them on DS. Many, more or less complex, dermoscopic methods have been developed to aid in the differential diagnosis of skin cancer. The most widespread is 2-step algorithm dermoscopy. But there are some more simple methods, designed to be operated by non-medical experts in DS. Two of them are useful in primary care: the 3-point checklist of DS, and the BLINCK algorithm. This paper focuses on describing the dermoscopic parameters needed to implement these algorithms, as well as their interpretation.


Asunto(s)
Dermoscopía/métodos , Enfermedades de la Piel/diagnóstico , Neoplasias Cutáneas/diagnóstico , Algoritmos , Diagnóstico Diferencial , Humanos , Melanoma/diagnóstico , Melanoma/patología , Atención Primaria de Salud , Enfermedades de la Piel/patología , Neoplasias Cutáneas/patología
6.
Semergen ; 41(4): 221-5, 2015.
Artículo en Español | MEDLINE | ID: mdl-25440971

RESUMEN

Chikungunya fever (CHIK) is an emerging viral disease. It is caused by the Chikungunya virus, an alphavirus from the Togaviridae family. It is transmitted to humans by the bite of infected mosquitoes, mainly Aedes aegypti and Aedes albopictus. They are also involved in the transmission of dengue, malaria, etc. CHIK is now endemic in any region of Africa and Southeast-Asia. Cases of CHIK have been reported in America, the Caribbean, and Europe (France, Italy and Spain). There are reservoirs of these mosquitoes in some regions of Spain (Catalonia, Alicante, Murcia and Balearic islands). CHIK is characterized by a sudden high and debilitating fever, and severe or disabling symmetrical arthralgia. It tends to improve in days or weeks. There are severe and chronic forms of CHIK. There is no specific treatment or prophylaxis for CHIK. An algorithm is proposed for the clinical management of CHIK based in the latest guidelines.


Asunto(s)
Algoritmos , Fiebre Chikungunya/terapia , Virus Chikungunya/aislamiento & purificación , Aedes/virología , Animales , Fiebre Chikungunya/transmisión , Humanos , Insectos Vectores/virología , Guías de Práctica Clínica como Asunto
7.
Semergen ; 39(8): e63-7, 2013.
Artículo en Español | MEDLINE | ID: mdl-24315079

RESUMEN

Cervicalgia is defined as the presence of pain in the neck region, and can radiate to the shoulders, upper limbs or back. It is a source of frequent visits to Primary Care, and more than half of the general population will suffer neck pain at some point in their life. Klippel-Feil syndrome is an exceptional cause of cervicalgia. It belongs to the group of so-called malformations of the hold-down skull-cervical congenital disease. Klippel-Feil syndrome is a complex disease entity characterized by the fusion of two or more vertebrae, and may also be associated with other bone and visceral disorders. The characteristic clinical triad consists of short-neck, implantation below the hair in the occipital region, and limitation of cervical mobility. However, this clinical picture is present in less than 50% of these patients.


Asunto(s)
Síndrome de Klippel-Feil/complicaciones , Dolor de Cuello/etiología , Femenino , Humanos , Síndrome de Klippel-Feil/diagnóstico , Persona de Mediana Edad
8.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. impr.) ; 39(8): e63-e67, nov.-dic. 2013. tab, ilus
Artículo en Español | IBECS | ID: ibc-117237

RESUMEN

La cervicalgia se define por la presencia de dolor en la región del cuello, pudiendo irradiarse o no a hombros, miembros superiores y/o espalda. Representa un motivo de consulta frecuente en atención primaria: más de la mitad de la población general presentará en algún momento de su vida dolor cervical. El síndrome de Klippel-Feil es una causa excepcional de cervicalgia. Es una enfermedad congénita del grupo de las denominadas malformaciones de la charnela craneocervical. Es una entidad nosológica compleja caracterizada por la fusión de 2 o más vértebras, pudiendo asociar también otras malformaciones y alteraciones óseas y viscerales. La tríada clínica característica consiste en cuello corto, implantación baja del cabello en la región occipital y limitación de la movilidad cervical. No obstante, dicha clínica está presente en menos del 50% de los pacientes (AU)


We present the case of a patient with chronic low back pain with an unfavourable progression despite the prescribed pharmacological treatment. The patient had symptoms associated with compression of the sciatic nerve in an atypical area. As it passed through the piriformis muscle, it was diagnosed as piriformis muscle syndrome. This diagnosis was based on the clinical signs and symptoms and the determination of the tests performed, with the imaging tests being absolutely normal. Treatment is basically with non-steroidal anti-inflammatory drugs, muscle relaxants and stretching exercises of this muscle (AU)


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Síndrome de Klippel-Feil/complicaciones , Síndrome de Klippel-Feil/diagnóstico , Dolor de Cuello/complicaciones , Dolor de Cuello/diagnóstico , Enfermedades Óseas , Enfermedades Óseas/complicaciones , Síndrome de Klippel-Feil/fisiopatología , Síndrome de Klippel-Feil/rehabilitación , Dolor de Cuello , Anomalías Musculoesqueléticas/complicaciones , Anomalías Musculoesqueléticas , Anomalías Congénitas , Atención Primaria de Salud/métodos , Atención Primaria de Salud/normas , Atención Primaria de Salud
9.
An. sist. sanit. Navar ; 36(3): 551-556, sept.-dic. 2013. tab, ilus
Artículo en Español | IBECS | ID: ibc-118950

RESUMEN

La esofagitis candidiásica (EC) es una de las formas invasivas de candidiasis. Su prevalencia diagnosticada mediante endoscopia digestiva alta oscila entre 0,77-2,4%. Su principal causa es la Candida albicans (CA). La EC afecta con mayor frecuencia a sujetos inmunodeprimidos, aunque también puede aparecer en sujetos sanos. Precisa tratamiento antifúngico sistémico. Presentamos el caso de una EC en una paciente sana con buena respuesta al tratamiento pautado, potencialmente relacionado con la toma de omeprazol por parte de la paciente (AU)


Candida esophagitis (CE) is one of the invasive infections caused by Candida albicans (CA). Its prevalence diagnosed by upper endoscopy ranges between 0.77-2.4%. Its main cause is CA. CE more often affects immunocompromised people, however it may affect healthy people too. CE requires systemic antifungal therapy. We report a case of a CE in a healthy woman who presented good response to prescribed treatment. Omeprazole might be involved in the development of her CE (AU)


Asunto(s)
Humanos , Femenino , Adulto , Esofagitis/microbiología , Candidiasis/complicaciones , Candida albicans/patogenicidad , Esofagoscopía , Omeprazol/efectos adversos , Factores de Riesgo
10.
An Sist Sanit Navar ; 36(3): 551-6, 2013.
Artículo en Español | MEDLINE | ID: mdl-24406370

RESUMEN

Candida esophagitis (CE) is one of the invasive infections caused by Candida albicans (CA). Its prevalence diagnosed by upper endoscopy ranges between 0.77-2.4%. Its main cause is CA. CE more often affects immunocompromised people, however it may affect healthy people too. CE requires systemic antifungal therapy. We report a case of a CE in a healthy woman who presented good response to prescribed treatment. Omeprazole might be involved in the development of her CE.


Asunto(s)
Candidiasis , Esofagitis/microbiología , Adulto , Candidiasis/diagnóstico , Candidiasis/tratamiento farmacológico , Esofagitis/diagnóstico , Esofagitis/tratamiento farmacológico , Femenino , Humanos , Inmunocompetencia
11.
Arch Esp Urol ; 65(4): 492-5, 2012 May.
Artículo en Inglés, Español | MEDLINE | ID: mdl-22619141

RESUMEN

OBJECTIVE: To report a new case of giant retroperitoneal mass with silent beginning. METHODS: We present the case of a 36 year old man with a giant retroperitoneal liposarcoma 35 × 15 cm in size. The only symptom was a one month history of minimal abdominal pain. CONCLUSION: Liposarcoma is the most frequent retroperitoneal mass. In most of the cases clinical symptoms are silent, being this the reason why diagnosis is late and the size is large. The best image options are CT scan or MRI but final diagnosis is based on pathology results. Its treatment is surgery and relapse is very usual.


Asunto(s)
Liposarcoma/patología , Neoplasias Retroperitoneales/patología , Carga Tumoral , Dolor Abdominal/etiología , Adulto , Humanos , Liposarcoma/complicaciones , Liposarcoma/diagnóstico por imagen , Masculino , Radiografía , Neoplasias Retroperitoneales/complicaciones , Neoplasias Retroperitoneales/diagnóstico por imagen
12.
J Helminthol ; 85(1): 51-5, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20416126

RESUMEN

The objective of this study was to assess the proteolytic activity of Fasciola hepatica cathepsins in liver sections from mice vaccinated with phage clones of cathepsin L mimotopes, using the film in situ zymography technique. Female BALB/c mice were immunized three times with 2.5 x 10¹¹ phage particles without adjuvant. Animals vaccinated with phage clones produced high titres of anti-mimotope antibodies and a significant reduction in fluke burden was observed following challenge with metacercariae of F. hepatica. The proteolytic activity in hepatic tissue was reduced after the immunization with phage clones.


Asunto(s)
Anticuerpos Antihelmínticos/sangre , Catepsina L/inmunología , Fasciola hepatica/inmunología , Fascioliasis/inmunología , Hígado/metabolismo , Vacunas/administración & dosificación , Secuencia de Aminoácidos , Animales , Bacteriófago M13/genética , Bacteriófago M13/inmunología , Catepsina L/administración & dosificación , Catepsina L/química , Catepsina L/metabolismo , Ensayo de Inmunoadsorción Enzimática , Epítopos/inmunología , Fasciola hepatica/enzimología , Fasciola hepatica/genética , Fascioliasis/parasitología , Fascioliasis/prevención & control , Femenino , Inmunización , Ratones , Ratones Endogámicos BALB C , Imitación Molecular , Biblioteca de Péptidos , Vacunación , Vacunas/genética , Vacunas/inmunología
13.
J Anim Breed Genet ; 125(5): 351-9, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18803791

RESUMEN

The objective of this study was to evaluate the genetic structure of Mexican Criollo cattle populations using microsatellite genetic markers. DNA samples were collected from 168 animals from four Mexican Criollo cattle populations, geographically isolated in remote areas of Sierra Madre Occidental (West Highlands). Also were included samples from two breeds with Iberian origin: the fighting bull (n = 24) and the milking central American Criollo (n = 24) and one Asiatic breed: Guzerat (n = 32). Genetic analysis consisted of the estimation of the genetic diversity in each population by the allele number and the average expected heterozygosity found in nine microsatellite loci. Furthermore, genetic relationships among the populations were defined by their genetic distances. Our data shows that Mexican cattle populations have a relatively high level of genetic diversity based either on the mean number of alleles (10.2-13.6) and on the expected heterozygosity (0.71-0.85). The degree of observed homozygosity within the Criollo populations was remarkable and probably caused by inbreeding (reduced effective population size) possibly due to reproductive structure within populations. Our data shows that considerable genetic differentiation has been occurred among the Criollo cattle populations in different regions of Mexico.


Asunto(s)
Bovinos/genética , Animales , Cruzamientos Genéticos , ADN Satélite/genética , Femenino , Tamización de Portadores Genéticos , Variación Genética , Geografía , Masculino , México , Análisis Multivariante , Filogenia
14.
Parasitology ; 135(12): 1437-45, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18812010

RESUMEN

An M13 phage random 12-mers peptide library was used to screen cathepsin L mimotopes of Fasciola hepatica and to evaluate their immunogenicity in sheep. Seven clones showed positive reactivity to a rabbit anti-cathepsin L1/L2 antiserum in ELISA, and their amino acid sequences deduced by DNA sequencing were tentatively mapped on the protein. Twenty sheep were randomly allocated into 4 groups of 5 animals each, for immunization with 1x10(14) phage particles of clones 1, 20, a mixture of 7 clones and PBS, without adjuvant at the beginning, and 4 weeks later. All groups were challenged with 300 metacercariae at week 6 and slaughtered 16 weeks later. The mean worm burdens after challenge were reduced by 47.61% and 33.91% in sheep vaccinated with clones 1 and 20, respectively; no effect was observed in animals inoculated with the clone mixture. Also, a significant reduction in worm size and burden was observed for those sheep immunized with clone 1. Animals receiving clone 20, showed a significant reduction in egg output. Immunization induced a reduction of egg viability ranging from 58.92 to 82.11%. Furthermore, vaccinated animals produced clone-specific antibodies which were boosted after challenge with metacercariae of F. hepatica.


Asunto(s)
Catepsinas/inmunología , Cisteína Endopeptidasas/inmunología , Fascioliasis/veterinaria , Biblioteca de Péptidos , Enfermedades de las Ovejas/inmunología , Secuencia de Aminoácidos , Animales , Catepsina L , Catepsinas/química , Cisteína Endopeptidasas/química , Fasciola hepatica , Fascioliasis/prevención & control , Heces/parasitología , Datos de Secuencia Molecular , Recuento de Huevos de Parásitos , Ovinos , Enfermedades de las Ovejas/parasitología , Vacunas/inmunología
15.
Surg Endosc ; 15(11): 1359, 2001 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11727151

RESUMEN

Bochdalek's hernia is the most common congenital diaphragmatic hernia in newborns, but it is an uncommon clinical feature in adults. In most cases, there are no symptoms or only minor gastrointestinal problems. Rarely, it may manifest as an acute abdomen due to viscus strangulation, requiring emergency surgery. We report the case of a 52-year-old man with herniation of the colon and a volvulated stomach through a Bochdalek's hernia. The patient was operated on via a laparoscopic approach and had an uneventful recovery. We recommend the laparoscopic approach as an alternative to open surgery in cases of noncomplicated Bochdalek's hernia.


Asunto(s)
Hernia Diafragmática/cirugía , Laparoscopía/métodos , Vólvulo Gástrico/cirugía , Hernia Diafragmática/complicaciones , Hernias Diafragmáticas Congénitas , Humanos , Masculino , Persona de Mediana Edad , Vólvulo Gástrico/complicaciones
16.
J Anim Sci ; 79(12): 3021-6, 2001 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11811455

RESUMEN

The main Creole pig population in Mexico, the hairless Mexican pig, remains as an unimproved and endangered genetic resource. In order to learn more about the genetic characteristics of this pig population, we assessed the allele frequency of 10 microsatellite loci in 177 unrelated hairless pigs from seven regions at Mexico and in 111 pigs of four commercial breeds (Landrace, Large White, Hampshire, and Duroc). Genetic diversity in each population was estimated by the unbiased average heterozygosity and the allele number. Nei's standard genetic distances and a neighbor-joining dendrogram were used to reveal the genetic relationships among these populations. In this report, we present data showing that the level of the genetic diversity in Mexican hairless pigs is high compared with previous reports, and that they belong to a genetic lineage divergent from commercial breeds. Furthermore, Mexican hairless pigs seem to have developed several genetically distinct lines associated with their geographic location. We conclude that the Mexican Creole pig populations may be a reservoir of genetic diversity that is important to preserve and evaluate as a source of new alleles for the future improvement of commercial pig lines.


Asunto(s)
Frecuencia de los Genes , Variación Genética , Heterocigoto , Repeticiones de Microsatélite/genética , Porcinos/genética , Alelos , Animales , Femenino , Genotipo , Cabello , Masculino , México , Fenotipo , Filogenia , Porcinos/clasificación
17.
Med Mycol ; 39(5): 439-44, 2001 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-12054055

RESUMEN

Mitochondrial DNA (mtDNA) diversity was analyzed in 42 clinical isolates of Sporothrix schenckii from Mexico (n = 29), Guatemala (n = 4) and Colombia (n = 9). Based on HaeIII restriction digestion profiles, the isolates were classified into eight types. In addition to 24 mtDNA types previously reported in another study, 6 new types were found in this study. Most of the strains belong to type 14 and type 30, the former restricted to Mexico, whereas the latter was distributed in Mexico, Guatemala and Colombia. The new types (25-30) were identified in Mexico, Guatemala and Colombia. Restriction-fragment length polymorphism in mtDNA of S. schenckii revealed high levels of genetic variation attributable to differences in restriction sites as well as in mtDNA size. Based on genetic distances S. schenckii types were clustered into two main groups.


Asunto(s)
ADN de Hongos/análisis , ADN Mitocondrial/análisis , Sporothrix/genética , Humanos , Polimorfismo de Longitud del Fragmento de Restricción
18.
Can J Vet Res ; 64(4): 243-5, 2000 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-11041504

RESUMEN

One of the most common skeletal affections in humans is achondroplasia, a short-limbed dwarfism that is, in most cases, caused by mutations in the transmembrane domain of the fibroblast growth factor receptor-3 (FGFR-3) gene. Due to the lack of sufficient radiological, genetic, and molecular studies, most types of skeletal anomalies in dogs are classified as achondroplasia. To initiate the molecular characterization of some osteochondrodysplastic dog breeds, we obtained the DNA sequence of the transmembrane domain of the FGFR-3 gene from the dachshund, basset hound, bulldog, and German shepherd dogs. All 4 breeds showed no mutation in the evaluated region. This indicates that the mutation responsible for the osteochondrodysplastic phenotype in the tested dog breeds lies either elsewhere in the FGFR-3 gene or in other ones involved in the formation and development of endochondral bone.


Asunto(s)
Acondroplasia/veterinaria , Enfermedades de los Perros/genética , Receptores de Factores de Crecimiento de Fibroblastos/genética , Acondroplasia/genética , Animales , Secuencia de Bases , Análisis Mutacional de ADN/veterinaria , Perros , Datos de Secuencia Molecular , Linaje , Fenotipo
19.
Can Vet J ; 39(10): 642-3, 1998 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-9789676

RESUMEN

A presumed genetic syndrome is described in a family of St. Bernards. Four identically affected littermates presented the association of palate agenesis, anotia, incomplete bifid tongue, preaxial hind paw polydactyly, and an extra thoracic vertebra and rib. Pedigree analysis is compatible with an autosomal recessive gene.


Asunto(s)
Aberraciones Cromosómicas/veterinaria , Enfermedades de los Perros/genética , Anomalías de la Boca/veterinaria , Polidactilia/veterinaria , Animales , Trastornos de los Cromosomas , Perros , Femenino , Genes Recesivos , Masculino , Anomalías de la Boca/genética , Hueso Paladar/anomalías , Linaje , Polidactilia/genética , Lengua/anomalías
20.
Mol Biochem Parasitol ; 56(1): 27-37, 1992 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-1474999

RESUMEN

The giardins are abundant cytoskeletal proteins that range in size from 29-38 kDa and are specific to the ventral disk of the intestinal protozoan parasite Giardia lamblia. The 29-kDa (beta and beta-1; refs. 8-10) and the 33-kDa (alpha-1 and alpha-2; refs. 3 and 7) giardins have been characterized previously. In this paper we extend the analysis of the giardins to include the 38-kDa giardin, which we have named gamma-giardin. After purifying gamma-giardin by two-dimensional electrophoresis, we raised polyclonal antibodies to the protein and used them to demonstrate that gamma-giardin shares at least one epitope with 9 other giardin polypeptides and that it localizes to the ventral disk of the parasite. We also determined an internal peptide sequence of 12 amino acid residues and used this information to construct oligonucleotide probes for the gamma-giardin gene. After cloning the gene, we determined the nucleotide sequence of its 933-bp open reading frame and 866 bp of 5' and 3' flanking sequence. We found the downstream AGTPuAAPy motif typical of all G. lamblia genes sequenced to date, and determined that the single copy of the gamma-giardin gene localizes to the same chromosome or chromosomal cluster as the alpha-giardins. Finally, we demonstrated by primer extension analysis that gamma-giardin transcripts contain a short untranslated leader characteristic of G. lamblia messenger RNAs.


Asunto(s)
Proteínas del Citoesqueleto/genética , Genes Protozoarios , Giardia lamblia/genética , Proteínas Protozoarias/genética , Secuencia de Aminoácidos , Animales , Secuencia de Bases , ADN Protozoario/genética , Datos de Secuencia Molecular , ARN Mensajero/genética , ARN Protozoario/genética , Transcripción Genética
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