Search results for "Hox"

Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and The Impact On Final Height: Report of a Pedigree

2019

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth. We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; father: 160 cm). ZM was first evaluated at the age of 6.8 years for disharmonic short stature: stature: 103.5 cm; SPAN: 99 cm. She was affected by SHOX-D (heterozygous missense mutation c414G>C: p.Glu138Asp of the exon 3). The same mutation was first confirme…

Nanosensor for Sensitive Detection of the New Psychedelic Drug 25I-NBOMe.

2020

[EN] This work reports the synthesis, characterization, and sensing behavior of a hybrid nanodevice for the detection of the potent abuse drug 25I-NBOMe. The system is based on mesoporous silica nanoparticles, loaded with a fluorescent dye, functionalized with a serotonin derivative and capped with the 5-HT2A receptor antibody. In the presence of 25I-NBOMe the capping antibody is displaced, leading to pore opening and rhodamine B release. This delivery was ascribed to 5-HT2A receptor antibody detachment from the surface due to its stronger coordination with 25I-NBOMe present in the solution. The prepared nanodevice allowed the sensitive (limit of detection of 0.6 mm) and selective recogniti…

Prevalence and antibiotic-resistance of Salmonella isolated from beef sampled from the slaughterhouse and from retailers in Dakar (Senegal)

2005

A study was made of Salmonella contamination in beef sampled from a slaughterhouse and from retailers in Dakar, Senegal. The serotypes as well as antibiotic-resistance patterns of the Salmonella isolates were determined. A total of 435 meat samples (236 from the slaughterhouse, 199 from retailers) were tested. Among them, 275 (63%) were positive for Salmonella, 43% (101/236) from the slaughterhouse and 87% (174/199) from the retailers. Furthermore, 97% of the investigated retailers had at least one beef sample contaminated by Salmonella. The 286 Salmonella isolates were divided into 51 serotypes. The most prevalent serotypes were Salmonella bredeney (25%), S. muenster (8%), S. waycross (7%)…

The Chemistry and the Anti-Inflammatory Activity of Polymethoxyflavonoids from Citrus Genus

2022

Polymethoxyflavonoids (PMFs) are a large group of compounds belonging to the more general class of flavonoids that possess a flavan carbon framework decorated with a variable number of methoxy groups. Hydroxylated polymethoxyflavonoids (HPMFs), instead, are characterized by the presence of both hydroxyl and methoxy groups in their structural unities. Some of these compounds are the aglycone part in a glycoside structure in which the glycosidic linkage can involve the −OH at various positions. These compounds are particular to Citrus genus plants, especially in fruits, and they are present mainly in the peel. A considerable number of PMFs and HPMFs have shown promising biological activities …

Comuni vie di trasmissione del segnale durante lo sviluppo

2009

Il capitolo (21), in traduzione da Moore e Persaud, raccoglie il percorso delle più comuni vie del segnale durante i processi morfogenetici.

Autocatalytic Photo-Oxidation of 2-Methoxybenzyl Alcohol and O2 Quenching therein

2014

STATURA DEFINITIVA NELL’APLOINSUFFICIENZA DEL GENE SHOX: VARIABILITA’ INTRA-FAMILIARE

2019

Causa genetica di bassa statura disarmonica, l’aploinsufficienza del gene SHOX (SHOX-D) presenta differente espressione fenotipica anche in pazienti con eguale genotipo, con verosimile influenza di fattori epigenetici in grado di condizionare anche la risposta alla terapia con GH e la statura definitiva. Descriviamo il caso di un nucleo familiare (madre, 2 sorelle) con SHOX-D. Statura target: 146.8 cm (-2.6SDS); madre: 146.5 cm; padre: 160 cm). ZM è stata studiata all’età di 6,8 aa per bassa statura disarmonica: statura: 103.5 cm (-3SDS); SPAN: 99 cm; (BA: 6 aa). È stata documentata la mutazione missenso del gene SHOX (c414G>C: p.Glu138Asp dell’esone 3) ed iniziata terapia con GH. La ste…

VARIABILITA’ INTRA-FAMILIARE FENOTIPICA E SULLA STATURA DEFINITIVA NELL’APLOINSUFFICIENZA DEL GENE SHOX

2019

Base genetica di alcuni casi di bassa statura disarmonica, l’aploinsufficienza del gene SHOX (SHOX-D) causa differente espressione fenotipica anche in pazienti con eguale genotipo, con verosimile influenza di fattori epigenetici in grado di condizionare anche la risposta alla terapia con GH e la statura definitiva.Descriviamo il caso di un nucleo familiare (due sorelle e la madre) con SHOX-D. la statura target è 146.8 cm (-2.6SDS); madre: 146.5 cm; padre: 160 cm).ZM è stata studiata all’età di 6,8 aa per bassa statura disarmonica: statura: 103.5 cm (-3SDS); SPAN: 99 cm; (BA: 6 aa). E’ stata documentata la mutazione missenso del gene SHOX (c414G>C: p.Glu138Asp dell’esone 3) ed iniziata te…

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

2014

SHOX Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

2018

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014-2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We selected 6 patients (5 females; 1 male; age: 1.2-11 years), with documented mutations of the SHOX gene or of the promoter. One patient was already treated with low doses of GH for GHD, documented by 2 tests. One patient had type …