Search results for "GNAS"

Evaluation of the Possibility to Detect Circulating Tumor DNA From Pituitary Adenoma

2019

Objective: Circulating free DNA (cfDNA) in general and circulating tumor DNA (ctDNA) in particular is becoming an increasingly used form of liquid biopsy biomarkers. In this study, we are investigating the ability to detect ctDNA from the plasma of pituitary adenoma (PA) patients. Design: Tumor tissue samples were obtained from planed PA resections, before which blood plasma samples were taken. Somatic variants found in PA tissue samples were evaluated in related cfDNA, isolated from plasma samples. Methods: Sanger sequencing, as well as previously obtained whole-exome sequencing data, were used to evaluate somatic variants composition in tumor tissue samples. cfDNA was isolated from the sa…

Synthesis of potentially anti-inflammatory IPL576,092-contignasterol and IPL576,092-manoalide hybrids

2004

The synthesis of two potentially anti-inflammatory steroidal hybrid compounds has been accomplished through a 16- and 17-step sequence, respectively, starting from commercially available androst-5-en-3β-ol-17-one. The synthetic strategies are based both on stereoselective side chains elaboration and high yielding functional group transformations.

In Nomine sanctissimae, & indiuiduae Trinitatis ... Nouerint vniuersi, & singuli hoc praesens publicum trāsumpti instrumentum visuri, lecturi parite…

1609

El Notario Apostólico Blas Godouer, con fecha de Madrid, 7 de Noviembre de 1609, da fe de que concuerdan con los documentos originales las letras testimoniales y el decreto impresos Esc. de la Companyia de Jesús al començament del text Sign.: [ ]2

Breve relacion de las ceremonias hechas en la Canonizacion de los Santos Isidoro Labrador, Ignacio de Loyola, Francisco Xauier, Teresa de Iesus y Fil…

Sign.: [candelabre](?)4

Gozos al glorioso Patriarca San Ignacio de Loyola.

El full orlat Grav. xil. enmarcat del sant, flanquejat per gerros amb flors Text del goig a tres col., separades per filets

Gozos al glorioso Patriarca San Ignacio de Loyola.

El full orlat Grav. xil. enmarcat del sant, flanquejat per gerros amb flors Text del goig a tres col., separades per filets

Complicaciones infecciosas en el trasplante de sangre de cordón umbilical de donante no emparentado en adultos con enfermedades hematológicas malignas

2019

El trasplante de sangre de cordón umbilical (TSCU) es una opción terapéutica con potencial curativo para pacientes con enfermedades hematológicas malignas u otras enfermedades con grave afectación de la hematopoyesis que carecen de un donante familiar idéntico y precisan ser trasplantados en un breve plazo. Sin embargo, una de las principales limitaciones del TSCU es la importante morbilidad y mortalidad infecciosa que se observa con este procedimiento. Un detallado conocimiento del perfil clínico y microbiológico de las infecciones que desarrollan los pacientes sometidos a un TSCU es una condición necesaria para tratar de disminuir su impacto en la morbilidad y mortalidad. Así, el análisis…

Boy with pseudohypoparathyroidism type 1a caused byGNASgene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding

2009

We report on a 6-month-old boy with craniosynostosis, pseudohypoparathyroidism type 1a (PHP1A), and a GNAS gene mutation. He had synostoses of the coronal, frontal, and sagittal sutures, brachyturricephaly, and hydrocephaly. He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia. Because of progressive hydrocephaly, the synostosis was corrected surgically but circulatory decompensation led to disseminated intravascular coagulation and cerebral infarctions. Our patient died 8 days later. Postmortem molecular studies of GNAS, the gene for guanine nucleotide-binding protein, alpha-stimulating activity polypeptide (ge…

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones

2011

Background Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia in association with an increased secretion of parathyroid hormone (PTH) due to decreased target tissue responsiveness to PTH. Patients with PHP type Ia are not only resistant to PTH, but also to other hormones that bind to receptors coupled to stimulatory G protein (Gsalpha). PHP Ia and Albright hereditary osteodystrophy (AHO) are caused by a reduced activity of the Gsalpha protein. Heterozygous inactivating Gs alpha (GNAS) gene mutations have been identified in these patients. Methods We studied a boy with PHP Ia. During follow-up the patient developed elevated liver enzyme serum levels and abd…

Fibroma osificante maxilar: presentación de un caso y revisión de la literatura

2004

Existe un conjunto de procesos que han sido denominados genéricamente lesiones fibroóseas benignas, entre las que se encuentran la displasia fibrosa, la osteomielitis esclerosante y el fibroma osificante o cementificante. Todos estos procesos tienen un estroma fibroblástico vascular y producen una matriz calcificada que comprende desde el hueso hasta el cemento. El fibroma osificante se caracteriza por presentar un crecimiento y una tumefacción deformante de evolución lenta que generalmente aparece en la mandíbula y puede producir desplazamiento dentario precoz. Desde el punto de vista radiológico aparece generalmente como un área radiotransparente unilocular bien definida y demarcada o com…