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

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…

Abstracts of the 6th FECS Conference 1998 Lectures.

International audience

Organometallic complexes with biological molecules: XII. Solid-state and solution studies on dialkyltin(IV)- and trialkyltin(IV)-thiaminepyrophosphate derivatives

Dialkyltin(IV) and trialkyltin(IV) derivatives of the coenzyme thiaminepyrophosphate (H2TPP) have been synthesized with general formula R2Sn(HTPP)2·nH2O (Alk = Me, n = 2; Alk = Bu, n = 4) and R3SnHTPP·nH2O (R=Me, n = 2; R = Bu, n = 1), respectively. The solid-state structure of the complexes has been investigated through infrared and Mossbauer spectroscopy. The infrared data suggest the involvement of only phosphate oxygen atoms in the coordination of both dialkyl- and trialkyl-tin(IV) moieties, with phosphate anions behaving as monoanionic bidentate bridging or chelating groups, with the tin(IV) involved in six- and five-fold coordination geometries, respectively, in R2Sn(HTPP)2·nH2O (R = …

Benign Nocturnal Alternating Hemiplegia Of Childhood: A New Case.

SCSA Code: Applications on the Cyclopeptide Renieramide

SCSA is an algorithm designed to get information on molecular conformational properties. The most stable conformers are determined by the homemade SCSA code, performing a multistep systematic conformational search, which involves energy and structure quantum chemical optimizations at low-level and high-level. The SCSA method was employed to analyze the conformational space of the in vacuo cyclopeptide renieramide at AMI and B3LYP/6-31G(d) levels. Calculations at B3LYP level of the GIAO 13C NMR chemical shifts were also performed on the final conformers. In fact, to validate the conformational search results experimental and calculated 13C NMR spectra of renieramide were compared. Slight dis…

RANDOMIZED PHASE II STUDY OF FIRST-LINE EVEROLIMUS (EVE) + BEVACIZUMAB (BEV) VERSUS INTERFERON ALFA-2A (IFN) + BEV IN PATIENTS (PTS) WITH METASTATIC RENAL CELL CARCINOMA (MRCC): RECORD-2

ABSTRACT Background Study results demonstrated that IFN augments BEV activity and improves median PFS in pts with mRCC. Thus, combination BEV + IFN is a standard first-line treatment option for mRCC. Combining BEV with the mTOR inhibitor EVE may be an efficacious and well-tolerated treatment option. The open-label, phase II RECORD-2 trial compared first-line EVE + BEV and IFN + BEV in mRCC. Patients and methods: Therapy-naive pts with clear cell mRCC and prior nephrectomy were randomized 1:1 to BEV 10 mg/kg IV every 2 weeks with either EVE 10 mg oral daily or IFN (9 MIU SC 3 times/week, if tolerated). Tumour assessments were every 12 weeks. Primary objective was treatment effect on progress…

Mesonic and Non-Mesonic Weak Decay of Hypernuclei with FINUDA

Abstract The FINUDA experiment performed a systematic study of both mesonic and non-mesonic weak decay of p - shell Λ-hypernuclei. Recent results on the mesonic decay rates and the non-mesonic decay ratios are illustrated and briefly discussed.

The hairy elbows syndrome: clinical and neuroradiological findings.

The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrom…

Metronomic chemotherapy for advanced breast cancer patients in the real world practice: Final results of the VICTOR-6 study

Abstract Metronomic chemotherapy (mCHT) refers to the minimum biologically effective dose of a chemotherapy agent given as a continuous dosing regimen, with no prolonged drug-free breaks, that leads to antitumor activity. Aim of the present study is to describe the use of mCHT in a retrospective cohort of metastatic breast cancer (MBC) patients in order to collect data regarding the different types and regimens of drugs employed, their efficacy and safety. Between January 2011 and December 2016, data of 584 metastatic breast cancer patients treated with mCHT were collected. The use of VRL-based regimens increased during the time of observation (2011: 16.8% - 2016: 29.8%), as well as CTX-bas…

New results on mesonic weak decay of p-shell Lambda-hypernuclei

The FINUDA experiment performed a systematic study of the charged mesonic weak decay channel of $p$-shell $\Lambda$-hypernuclei. Negatively charged pion spectra from mesonic decay were measured with magnetic analysis for the first time for ${^{7}_{\Lambda}Li}$, ${^{9}_{\Lambda}Be}$, ${^{11}_{\Lambda}B}$ and ${^{15}_{\Lambda}N}$. The shape of the $\pi^{-}$ spectra was interpreted through a comparison with pion distorted wave calculations that take into account the structure of both hypernucleus and daughter nucleus. Branching ratios $\Gamma_{\pi^{-}}/\Gamma_{tot}$ were derived from the measured spectra and converted to $\pi^{-}$ decay rates $\Gamma_{\pi^{-}}$ by means of known or extrapolate…