A de novo microdeletion 2p24.3-25.1 identified in a girl with global development delay

Interstitial microdeletions of the distal 2p are very rare. A small number of cases have been reported in the literature, involving regions 2p23-p25, 2p23-p24 and 2p24-p25. The most common symptoms involve: intrauterine growth retardation, developmental delay, mental retardation, microcephaly, craniofacial anomalies, musculoskeletal abnormalities, congenital heart defect and hearing impairment. Herein we report on a Caucasian girl, born after in vitro fertilization with discrete facial dysmorphism, growth failure, borderline neurodevelopment and congenital heart defect. A de novo pericentric inversion of chromosome 2 was identified by routine karyotyping. An interstitial microdeletion of 2p24.3p25.1 was found by array karyotyping and following FISH analysis revealed that the deletion affects the inverted chromosome 2. This case illustrates the utility of high resolution methods to identify submicroscopic quantitative changes in structurally rearranged chromosomes. The precise determination of the genetic content of small quantitative changes in the genome provides important information for genetic counseling, enabling to predict the course of disease and the planning of adequate therapy and prophylaxis in affected families

SCN8A p.Arg1872Gln mutation in early infantile epileptic encephalopathy type 13: Review and case report

Early infantile epileptic encephalopathy (EIEE) is a disorder with variable genetic heterogeneity. Symptoms are mostly presented with generalised epileptic seizures with an infantile onset and progressive neurodevelopmental delay. Early infantile epileptic encephalopathy13 is caused by mutations in the SCN8A gene, which encodes the neuronal voltage-gated sodium channel α subunit (Nav1.6) and plays a major role in neuronal excitability. Describing the wide clinical variability of previously reported cases of patients carrying the same mutation, we demonstrate the complexity of the disease and the necessity of correctly correlating the phenotype with the genotype. Here, we present a minireview and a case report of EIEE13 involving the rare p.Arg1872Gln mutation in the SCN8A gene. We used targeted next-generation sequencing to examine a six-year-old girl with complex partial seizures from the left temporal lobe since 4 months of age. The condition was difficult to control with medication and the seizures evolved to generalised tonic-clonic seizures after the age of 3 years. Neurodevelopment in the child became severely delayed although seizures were as rare as 1 in every 5–10 months. А heterozygous missense mutation in the SCN8A gene (NM_014191.3:c.5616G > A, NP_055006.1:p.Arg1872Gln) was found. The variant was validated by Sanger sequencing. We suggest that this SCN8A mutation has a primary neurodegenerative effect leading to brain atrophy and intellectual disability (with or without autism) that is partially independent of its epileptogenic effect. Our results demonstrate that the application of large panels with clinically-associated genes is essential for identifying rare mutations in individuals with disorders of unknown etiology

Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies

Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions. The prenatal detection of fetal anomalies compatible with life is a challenge for both the parents and the physician. The prognosis for the fetus/newborn and the reproductive decisions of the family largely depend on the causes underlying the disease. The reported case is of a G2P1 pregnant woman referred for routine ultrasound scan at 24 weeks of gestation (w.g.). The fetus had growth retardation, right kidney agenesis, bilateral absence of radial bones and thumbs, radial deviation of the wrists, and short humeri. Nuchal fold thickness was 5 mm and there was a single umbilical artery. After termination of pregnancy, SNP array genotyping and next-generation sequencing of targeted candidate-genes were performed trying to clarify the etiology of the fetal polymalformative syndrome. A new hypomorphic mutation in FANCD2 gene was found to underlie this fetal anomaly. The case illustrates that patients/families affected by rare monogenic disorders may benefit from application of modern technologies like microarrays and NGS

Minimally Invasive Management of Giant Esophageal Polyp - a Case Report

Introduction: The benign tumors of the esophagus are rare disease. Their size has a great variation - from a few centimeters to taking up the whole length of the esophagus. Usually, they present with dysphagia, anemia and in some cases - aspiration or protrusion through the mouth. The polyps are mainly of fibroepithelial origin. Most of them are treated surgically with cervicotomy or esophagotomy.Materials and Methods: We present a case of a 65-year-old male patient with a large 18x5 cm esophageal polyp with an origin from the upper esophagus after the hypopharynx. The preoperative computed tomography angiography excluded the presence of large vessels in the polyp stalk and that helped to establish the surgical strategy - injection of aethoxysklerol at the polyp base and resection with the help of laparoscopic vessel sealer and divider (LigaSureâ„¢). The transoral endoscopic approach was achieved using Weerda diverticuloscope.Results: The polyp was resected successfully. The vessel sealer provided excellent hemostasis and no damage to the surrounding tissues. The only limitation of the transoral approach was due to the large size of the polyp, which had to be extracted via gastrotomy through a 5cm midline laparotomy incision. The postprocedural period was uneventful, liquid food intake was restored on the 2nd postprocedural day and solid food on the 3rd day. The patient was discharged on the fifth day. After one-year follow-up no recurrence was detected. Discussion: Various approaches have been described for the removal of large esophageal polyps, varying from transoral hybrid approach, cervical approach, thoracoscopic approach and even esophagectomy according to the experience of the institution. Due to the benign characteristics of the disease more minimally invasive approach is preferred and it should be offered to the patient.Conclusion: Preoperative staging of the disease is essential to determine the operational approach that will be applied. The LigaSure device can provide safe hemostasis and facilitate the resection of the polyp stalk. The minimally invasive approach even in cases of large esophageal polyp is safe and feasible and the tumor can be easily extracted via small laparotomy and gastrotomy

Screening of pharmacogenetic variants associated with drug sensitivity in patients with papillary thyroid carcinoma using next generation sequencing

Thyroid cancer is the most common malignant tumour of the endocrine system. One of the most frequent types of thyroid malignancy is papillary carcinoma. In our study, we performed next generation sequencing (NGS) using a cancer panel (Illumina; Illumina, San Diego, USA) to screen for pharmacogenetic susceptibility variants in blood samples of 10 patients with papillary thyroid cancer (PTC). We report variants rs1042522 (TP53), rs2228001 (XPC), rs2227983 (EGFR), rs13181 (ERCC2), rs17655 (ERCC5) and rs1799939 (RET), which were detected in the analyzed patients either in homozygous and/or heterozygous state previously known to be connected with pharmacogenetic sensitivity to certain drugs in oncology. The results showed the TruSight Cancer Panel to be a useful clinical tool for determination of oncotherapy-associated pharmacogenetic variants in the blood of patients

‘Superior to Disney’: colour animation at Lenfilm, 1936-41

This article examines the phenomenon of colour-film animation at Lenfilm during the period 1936–1941. It discusses the development of colour technologies at the studio during the 1930s and the ways in which its artists responded to the aesthetic challenge of colour. Three of the seven short films produced during this period have been selected as case studies; they are examined here in the context of filmed animations in the Soviet Union during the 1930s, in particular the debates prompted by the screening of three Disney animations in Technicolor at the Moscow International Film Festival in 1935. The formal analysis of the case studies is based on the digital restorations in recent years at the Russian State Film Archive (Gosfilmfond), but also the inspection of one nitrate-positive of Mstislav Pashchenko’s Dzhiabzha (1939), which has survived intact at the archive. The technical difficulties posed by the hydrotype process developed at Lenfilm, as well as the challenge of producing sufficient prints for mass distribution, also form part of the discussion

Anthologie de la musique russe

Titre uniforme : [Tri pesenki iz vospominanij ûnoseskih godov. W 23]Titre uniforme : [Pribaoutki. W 26]Titre uniforme : [Piano-rag-music. W 44]Titre uniforme : [Pesn' o lesah. Op. 81]Titre uniforme : [Sneguročka]. ExtraitTitre uniforme : [Aleksandr Nevskij. Op. 78 (Cantate)]Titre uniforme : [Hovanscina]. ExtraitTitre uniforme : [Boris Godunov]. ExtraitTitre uniforme : [Kola Brûn'on, master iz Klamsi. Op. 24. Ouverture]Titre uniforme : [Gaânè]. ExtraitTitre uniforme : [Kamarinskaâ]Titre uniforme : [Rusalka]. Extr.Titre uniforme : [Sneguročka. ČS 15]Titre uniforme : [Už gasli v komnatah ogni. ČS 297]Titre uniforme : [Nocturnes. Violoncelle, orchestre. ČS 349. Ré mineur]Titre uniforme : [Orleanskaâ deva. ČS 6]. ExtraitTitre uniforme : [Knâzʹ Igorʹ]. ExtraitComprend : La steppe toujours la steppe / Choeur populaire d'Etat de l'URSS - Le Dimanche j'allai à la fête / Quintette vocal des Soeurs Fedorov - Au bord du fleuve / Choeur populaire d'Etat de l'URSS - J'irai danser sur le pré / Quintette vocal des Soeurs Fedorov - Chanson triste / Quintette vocal des soeurs Fedorov - Chemins / Novikov ; Mark Reizen, choeurs et ensemble d'instruments populaire Dir. Alexandrov - Le tombeau d'Askold / Verstovski ; G. Nelepp, Choeur et orchestre de la Radio d'Etat de l'URSS, dir. Smirnov - Kamarinskaia / Glinka ; Orchestre du Grand Théâtre de Moscou, dir. N. Golovanov - Je me souviens du doux moment / Glinka ; S. Lemechev, au pianoN. Walter - Marche de Tchernomor / Glinka ; Orchestre du Grand Théâtre de Moscou, dir. K. Kondrachine - Duo comique / Dargomijski ; G. Vinogradov et A. Ivanov, au pianoG. Orentlikler - Roussalka / Dargomijski ; Mark Reizen, Orchestre du Grand Théâtre de Moscou, dir. Nebolsine - Russie / Balakirev ; Orchestre Symphonique de la Radio d'Etat de l'URSS, dir. N. Golovanov - Le pouvoir hostile / Serov ; N. Stchegolkov, choeurs et Orchestre du Grand Théâtre de Moscou, dir. Kondrachine - Boris Godounov / Moussorgski ; G. Nelepp, I. Kozlovski, solistes, choeurs et orchestre du Grand Théâtre de Moscou, dir. N. Golovanov - Khovantchina / Moussorgski (chant de Marfa) ; Z. Doloukhanova, orchestre du Grand Théatre de Moscou, dir. Kondrachine - Snegourotchka / Rimski-Korsakov ; S. Lemechev, Orchestre du Grand Théâtre de Moscou, dir. Melik-Pachaiev et Orchestre de la Radio d'Etat de l'URSS, dir. A. GAUK - Le prince Igor : Choeur et prologue / Borodine ; Choeurs et orchestre du Grand Théâtre de Moscou, dir. Melik-Pachaiev - Le prince Igor : air de Khontchakovna / Borodine ; E. [i. e. V.] Borissenko, choeurs et orchestre du Grand Théâtre de Moscou, dir. Melik-Pachaiev - Huit chants populaires russes / Liadov ; Orchestre Philharmonique de Moscou, dir. K. Kondrachine - Snegourotchka / Tchaikovski ; Choeurs et orchestre de la Radio d'Etat de l'URSS dir. A. Gauk. - Symphonie N ° 1 : 2ème mouvement / Tchaikovski ; Orchestre philharmonique de Moscou, dir. N. Golovanov - La Pucelle d'Orléans : Adieux à Domrémy / Tchaikovski ; E. Borissenko, orchestre du Grand Théâtre de Moscou, dir. Melik-Pachaiev - Déjà les flammes s'éteignaient / Tchaikovski ; Z. Dloukhanova, au pianoB. Kozel - Nocturne / Tchaikovski ; au pianoEmile Guilels - Comme il fait bon / Rachmaninov ; N. Kazantzeva, au pianoA. Bernard - La fiancée du soldat / Rachmaninov ; E. Borissenko, au pianoM. Makarov - Ouverture solennelle / Glazounov ; Orchestre symphonique de la Radio d'Etat de l'URSS, dir. Golovanov - Concerto pour piano : andante / Samuel Feinberg, piano et Orchestre de la Radio d'Etat de l'URSS, dir. A. Gauk - Piano rag-time / Stravinski ; Robert Cornmann, piano - Souvenirs d'enfance / Stravinski ; Basia Rechitzka, Orchestre philharmonique de Paris, dir. R. Cornmann - Pribaoutki / Stravinski ; Basia Rechitzka, orchestre philharmonique de Paris, dir. R. Cornmann - Alexandre Nevski : final / Prokofiev ; Choeurs et orchestre de la Radio d'Etat de l'URSS, dir. S. Samossoud - Cinq pièces pour violon et piano / Prokofiev ; David Oistrakh et V. Yampolski - Concerto pour piano et trompette : 1er mouvement / Chostakovitch ; M. Pinter, K. [i. e. W.] Bauer, orchestre de Radio-Berlin, dir. Gunther Wand - Le chant des forêts, promenade dans les forêts de l'avenir / Chostakovitch ; Kilichevski, choeurs et orchestre symphonique de l'URSS, dir. Mravinski - Gayaneh, l'incendie / Khatchatourian ; Orchestre du Grand Théâtre De Leningrad, dir. M. Khaikine - La veuve de Valence / Khatchatourian ; Orchestre de la Radio d'Etat de l'URSS, dir. Kovaliov - Le meunier, son fils et l'âne / Kabalevski ; G. Abramov, Orchestre de la Radio d'Etat de l'URSS, dir. Knouchevitzki - Colas Breugnon : ouverture / Kabalevski ; Orchestre de la Radio d'Etat de l' URSS, dir. PavermannBnF-Partenariats, Collection sonore - BelieveContient une table des matière