Search results for "hspR"

Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report

2007

A 5-week-old male patient was seen for symptoms suggestive of Hirschsprung disease (abdominal distension, failure to thrive, and explosive defecation). Rectum biopsies revealed an intestinal ganglioneuromatosis, which is usually associated with multiple endocrine neoplasia (MEN) syndrome type 2B. The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC). Therefore, total thyroidectomy and central lymphadenectomy were performed at the age of 9 weeks. Histology showed a medullary microcarcinoma. This report of MTC occurrence within the first weeks of life underlines the importance of early …

The Streptomyces coelicolor dnaK operon contains a second promoter driving the expression of the negative regulator hspR at physiological temperature

2006

HspR (heat shock protein regulator) acts as a negative regulator of different genes in many bacteria. In Streptomyces coelicolor hspR gene is part and the transcriptional repressor of the dnaK operon which encodes the DnaK, GrpE, DnaJ chaperone machines and HspR itself. Our experiments led us to the discovery of a second promoter, internal to dnaK operon, located upstream hspR gene. Transcription from this promoter was detected at 30 degrees C indicating that hspR could play a key physiological role.

Die passivischen Ausdrücke der medizinischen Fachsprache

1998

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease

2001

BACKGROUNDHirschsprung disease (HSCR) is a frequent congenital disorder with an incidence of 1 in 5000 live births, characterised by the absence of parasympathetic intramural ganglion cells in the hindgut resulting in intestinal obstruction in neonates and severe constipation in infants and adults. Intestinal neuronal dysplasia (IND) shares clinical features with HSCR but the submucosal parasympathetic plexus is affected. IND has been proposed as one of the most frequent causes of chronic constipation and is often associated with HSCR.METHODSWe examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of …

Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease

2011

SUMMARY The etiology of primary esophageal achalasia is largely unknown. There is increasing evidence that genetic alterations might play an important but underestimated role. Current knowledge of the genetic base of Hirschsprung's disease in contrast is far more detailed. The two enteric neuropathies have several clinical features in common. This association may also exist on a cellular and molecular level. The aim of this review is to enlighten those etiopathogenetic concepts of Hirschsprung's disease that seem to be useful in uncovering the pathological processes causing achalasia. Three aspects are looked at: (i) the genetic base of Hirschsprung's disease, particularly its major suscept…

Repeated pull-through surgery for complicated Hirschsprung's disease--principles derived from clinical experience.

2007

Abstract Background In some patients, an initial pull-through procedure for Hirschsprung's disease fails, and obstructive symptoms persist or recur. Then a repeated pull-through operation may be necessary. Methods Seventeen patients with Hirschsprung's disease aged 2 to 9 years (median, 4.6 years) have undergone a repeated pull-through procedure because of unresponsive symptoms after an initial operation. The initial procedure was Soave in 3 patients, Rehbein in 13 patients, and Duhamel in 1 patient. Surgical revision was indicated by incomplete resection of the transition zone in 16 patients, anastomotic strictures in 9 patients, and fistulas in 2 patients. All 17 patients have undergone R…

Sviluppo di giunzioni ibride composito-metallo

2014

ATTUALI ORIENTAMENTI NELLA DIAGNOSTICA DELLA MALATTIA DI HIRSCHSPRUNG

1979

Gli Autori analizzano l'ier diagnostico nella malattia di Hirschsprung sulla base del quadro clinico e dell'età del paziente

Von Fachsprachen zu Fachkulturen über Fachdiskurse: zum neuen Stellenwert sozio-und kulturlinguistischer Ansätze in der Fachsprachenforschung

2021

International audience; Die traditionelle Fachsprachenforschung war lange Zeit systemorientiert, insbesondere durch ihre starke Fokussierung auf Terminologie und Fachphraseologie. Seit ungefähr zwei Jahrzehnten hat sie ihr Spektrum, vor allem unter dem Einfluss der Interdisziplinarität, erweitert und bemüht sich heute, Einflüsse aus benachbarten Disziplinen wie Sozio-, Varietäten-, Diskurs- oder auch Ethnolinguistik zu integrieren. Dementsprechend stehen nun nicht nur Wörter, Sätze und Texte im Vordergrund, sondern vielmehr Akteure, Sprechergemeinschaften, Diskurse, Diskurstraditionen, usw. im Vordergrund.Der Beitragsvorschlag reiht sich in diese Tendenz ein und möchte an zwei unterschiedli…

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.

2020

Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…