Search results for "DUP"

Pinpointing the PRDM9-PRDM7 Gene Duplication Event During Primate Divergence

2021

Studies on the function of PRDM9 in model systems and its evolution during vertebrate divergence shed light on the basic molecular mechanisms of hybrid sterility and its evolutionary consequences. However, information regarding PRDM9-homolog, PRDM7, whose origin is placed in the primate evolutionary tree, as well as information about the fast-evolving DNA-binding zinc finger array of strepsirrhine PRDM9 are scarce. Thus, we aimed to narrow down the date of the duplication event leading to the emergence of PRDM7 during primate evolution by comparing the phylogenetic tree reconstructions of representative primate samples of PRDM orthologs and paralogs. To confirm our PRDM7 paralogization patt…

F-Type Lectins: A highly diversified family of fucose-binding proteins with a unique sequence motif and structural fold, involved in self/non-self-re…

2017

The F-type lectin (FTL) family is one of the most recent to be identified and structurally characterized. Members of the FTL family are characterized by a fucose recognition domain [F-type lectin domain (FTLD)] that displays a novel jellyroll fold (“F-type” fold) and unique carbohydrate- and calcium-binding sequence motifs. This novel lectin family comprises widely distributed proteins exhibiting single, double, or greater multiples of the FTLD, either tandemly arrayed or combined with other structurally and functionally distinct domains, yielding lectin subunits of pleiotropic properties even within a single species. Furthermore, the extraordinary variability of FTL sequences (isoforms) th…

Review of biologics in allergic contact dermatitis

2020

The resistant and recalcitrant nature of severe allergic contact dermatitis (ACD) makes its management challenging. With advances in the understanding of the cellular and molecular pathogenesis of ACD, newer therapeutic targets are becoming apparent. In particular, the use of biologics has gained momentum, given the specificity of their action. This article aims to review the presently available data on the use of biologics in ACD. English-language-based literature available on the use of biological therapy was thoroughly probed in the following databases as on October 14, 2019: PubMed, Google Scholar, The Cochrane library, Embase, Scopus, and EBSCO. The following keywords were used: "conta…

Aussagefähigkeit und Stellenwert von bildgebender Diagnostik und Duplexsonographie bei Neugeborenen mit nekrotisierender Enterokolitis

1994

In this prospective study 101 sonographic examinations of superior mesenteric artery blood flow velocities, indices and blood flow volume were consecutively performed in 41 newborn to diagnose necrotising enterocolitis (NEC). Intramural and portal venous gas was also estimated. The artifacts of air in the AMS and the portal system were examined in an experimental study. The results of sonography and abdominal radiography were equivalent in the case of definitely established NEC, portal venous gas being more sensitive to detection by sonography. Abdominal radiography was indicated as the primary examination in case of a clearly identified clinical course. Sonography should be performed so th…

Zur Diagnostik atherosklerotischer Läsionen der extrakraniellen Arteria carotis mit Duplexsonographie und IA-DSA

1990

Fifty patients were studied prospectively. The extracranial portions of the carotid arteries were examined by duplex sonography and IA-DSA in order to demonstrate haemodynamically significant stenoses or plaques which might give rise to emboli and the findings compared with the pathologic specimens. The results indicate high sensitivity (up to 90%) for more than 75% detection of stenoses. On the other hand ulceration was diagnosed sonographically with an accuracy of 66% and plaque hemorrhage with an accuracy of 56%.

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…

2006

Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…

Ocular surface disease during dupilumab treatment in patients with atopic dermatitis, is it possible to prevent it?

2020

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12

2011

A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical of AT such as frequent, severe infections of the respiratory tract. In contrast, she showed symptoms not generally related to AT, including microcephaly, profound motor and mental retardation, small hands and feet, severely and progressively reduced muscle tone with slackly protruding abdomen and undue drooling, excess fat on her upper arms, and severe oligoarthritis. A cranial…

The "Renocentric Theory" of Renal Resistive Index: Is It Time for a Copernican Revolution?

2020

Ultrasound (US) with duplex Doppler scanning has spread to the capillary level, becoming an irreplaceable tool in daily clinical practice thanks to its characteristics: low cost, repeatability, and noninvasiveness. Moreover, US has become over time more sensitive and accurate; it can be considered an extension of the clinician’s hand. For this reason, it currently represents the ideal tool for first-level diagnostic use in several fields, and is the simplest and most flexible instrument for obtaining morphological and functional information on different organs, including the kidneys. In this issue of The Journal , Gigante, et al 1 propose to assess renal involvement in patients with systemi…

Feasible Evaluation of PQ Bypass Results with Duplex Ultrasound

2019

Abstract Patients with peripheral arterial disease (PAD) have substantially impaired health-related quality of life (HR-QoL). Chronic lower limb ischaemia due to the atherosclerotic occlusion of infra-inguinal arteries is one of the most important causes of invalidity among smokers over the age of fifty. Historically, these lesions were treated by open bypass surgery. Less invasive endovascular revascularisation methods are available to treat short lesions, while treatment of long lesions are lacking. Fully endovascular trans-venous femoro-popliteal bypass (PQ Bypass, Inc., Sunnyvale, CA, USA) to treat long femoral lesions has been developed recently. The objective of the study was to evalu…