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Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report

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World Journal of Clinical Cases 2020年第21期8卷 5296-5303页

作者： Jaime Toral-Lopez luz maría gonzález Huerta Olga Messina-Baas Sergio A Cuevas-Covarrubias Departamento de Genética Medica Centro Medico EcatepecISSEMYMEcatepec 55000México Programa de Maestría y Doctorado en Ciencias Médicas Odontológicas y de la Salud/Hospital Infantil de MéxicoUniversidad Nacional Autónoma de MéxicoMéxico 06720México Departamento de Biología Molecular Hospital General de MéxicoCuauhtémoc 06720México Departamento de Oftalmología Hospital General de MéxicoCuauhtémoc 06720México Genetica Hospital General de MéxicoCuauhtémoc 06726Mexico Sergio A Cuevas-CovarrubiasPrograma de Maestría y Doctorado en Ciencias MédicasOdontológicas y de la SaludUniversidad Nacional Autónoma de MéxicoMéxico 06720Mexico

BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the ***,treatment is only rehabilitation and surgery for cleft lip and *** SUMmarY The proband was a 2-years-8-months-old *** history was negative for congenital malformations or intellectual *** patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and *** magnetic resonance imaging showed cortical atrophy and band *** motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were *** There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 *** describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular *** clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.

关键词： Submicroscopic 11p13 deletion Elongator acetyltransferase complex subunit 4 gene Language failure Intellectual disability Congenital malformations Case report

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Fast and Effective Thermotherapy Treatment for <i>In Vitro</i>Virus Eradication in Apple and Pear Trees

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American Journal of Plant Sciences 2017年第10期8卷 2474-2482页

作者： Analí Lizárraga Javier Ascasíbar maría luz gonzález Department of Plant Physiology University of Santiago de Compostela Santiago de Compostela Spain Center of Agrarian Research of Mabegondo INGACAL-CIAM Abegondo Spain

Heat therapy followed by the isolation and in vitro culture of apical meristems is a suitable procedure for virus eradication. However, the period of heat treatment is usually long (28 - 50 days) and the yield of viable plants free of viruses after treatment is often low (<50%). Here, we describe an alternative method to obtain virus-free plants. We used traditional Galician cultivars, six apple trees and two pear trees, infected with Apple chlorotic leaf spot virus (ACLSV) and Apple mosaic virus (ApMV). We combined heat therapy of in vitro shoots using a temperature gradient from 25℃to 40℃increasing 1℃per day for a shorter period of time (18 days) with the posterior isolation and culture of apical meristems. All DNA samples analyzed, obtained from plants developed from meristems, were 100% free of ApMV and almost 90% free of ACLSV. With this in vitro procedure combined we obtained a good yield of tested plants free of viruses. Our method is fast and effective and it could be also useful to eradicate these and other viruses in other fruit trees.

关键词： Heat Therapy Meristem Culture ACLSV ApMV Malus Pyrus

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<i>In Vitro</i>Propagation and Recovery of Eight Apple and Two Pear Cultivars Held in a Germplasm Bank

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American Journal of Plant Sciences 2017年第9期8卷 2238-2254页

作者： Analí Lizárraga marga Fraga Javier Ascasíbar maría luz gonzález Department of Plant Physiology University of Santiago de Compostela Santiago de Compostela Spain Cultigar Brión Spain Centro de Investigaciones Agrarias de Mabegondo INGACAL-CIAM Abegondo Spain

Eight apple (Malus x domestica) and two pear (Pyrus communis) traditional cultivars of commercial interest were selected from the germplasm bank CIAM (Centro de Investigaciones Agrarias de Mabegondo, NW of Spain) one of the most important collections of The Iberian Peninsula. In order to define the establishment protocol, apical buds 1.0 - 1.5 millimetre length of the selected cultivars were established in solid mineral medium Murashige and Skoog (MS) with modified vitamins (thiamine 10X) and supplemented with 1 mg·L-1 6-benzyladenine (BA), 0.2 mg·L-1 gibberellic acid (GA3) and 0.3 mg·L-1 of indole-3-butyric acid (IBA). The highest shoot initiation rates were achieved with apple cultivar “Principe Grande” (55%) and “Barburiña” pear cultivar (50%);the lowest rate was obtained with apple cultivar “Camoesa” (11%). Initiation rates for shoots culture varied between 22% and 37% for the other cultivars. The cytokinins BA, zeatin, 2-isopentyladenine (2iP) and thidiazuron (TDZ) were tested at concentrations of 0, 0.25, 0.5 and 1 mg·L-1 in the absence or presence of IBA (0.1 mg·L-1) for the multiplication step. For all cultivars, the highest multiplication rates were obtained with medium supplemented with TDZ and also in media containing BA. The in vitro rooting success of shoots in medium with 0.1 mg·L-1 IBA without cytokinins, and the survival rate of plantlets acclimatized under greenhouse conditions depended on the genotype of the different cultivars. In vitro propagation of these ten traditional apple and pear cultivars in NW Spain has not previously been reported.

关键词： Apple Shoots Pear Shoots Axillary Bud Multiplication Cytokinin Gene Bank

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X linked recessive ichthyosis: Current concepts

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World Journal of Dermatology 2015年第3期4卷 129-134页

作者： Jaime Toral-López luz maría gonzález-Huerta Sergio A Cuevas-Covarrubias Departamento de Genética Médica Centro Médico Ecatepec Instituto de Seguridad Social del Estado de México y Municipios Ecatepec Estado de México CP 55000 México Departamento de Genética Médica Hospital General de México/Facultad de Medicina Universidad Nacional Autónoma de México Ciudad de México CP 06726 México

In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.

关键词： STS gene X-linked ichthyosis Steroid sulfatase Gene deletion Contiguous gene syndrome Genodermatosis

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Mesenchymal stem cell therapy in retinal and optic nerve diseases: An update of clinical trials

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World Journal of Stem Cells 2016年第11期8卷 376-383页

作者： Sonia Labrador-Velandia maría luz Alonso-Alonso Sara Alvarez-Sanchez Jorge gonzález-Zamora Irene Carretero-Barrio José Carlos Pastor Iván Fernandez-Bueno Girish Kumar Srivastava Instituto Universitario de Oftalmobiología Aplicada Universidad de Valladolid 47011 Valladolid Spain Facultad de Medicina Universidad de Valladolid 47005 Valladolid Spain Centro en Red de Medicina Regenerativa y Terapia Celular de Castilla y León 47011 Valladolid Spain Red Temática de Investigación Cooperativa Sanitaria del Instituto de Salud Carlos Ⅲ. Oftared 28029 Madrid Spain Hospital Clínico Universitario de Valladolid 47003 Valladolid Spain

Retinal and optic nerve diseases are degenerative ocular pathologies which lead to irreversible visual loss. Since the advanced therapies availability, cell-based therapies offer a new all-encompassing approach. Advances in the knowledge of neuroprotection, immunomodulation and regenerative properties of mesenchymal stem cells(MSCs) have been obtained by several preclinical studies of various neurodegenerative diseases. It has provided the opportunity to perform the translation of this knowledge to prospective treatment approaches for clinical practice. Since 2008, several first steps projecting new treatment approaches, have been taken regarding the use of cell therapy in patients with neurodegenerative pathologies of optic nerve and retina. Most of the clinical trials using MSCs are in Ⅰ/Ⅱ phase, recruiting patients or ongoing, and they have as main objective the safety assessment of MSCs using various routes of administration. However, it is important to recognize that, there is still a long way to go to reach clinical trials phase Ⅲ-Ⅳ. Hence, it is necessary to continue preclinical and clinical studies to improve this new therapeutic tool. This paper reviews the latest progress of MSCs in human clinical trials for retinal and optic nerve diseases.

关键词： Mesenchymal stem cells Cell therapy Optic nerve diseases Clinical trials Retinal diseases

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Pyonephrosis as a sign of sarcomatoid carcinoma of the renal pelvis

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World Journal of Clinical Cases 2014年第6期2卷 215-218页

作者： Sergio Fernández-Pello Victoria Venta Iván gonzález Rodrigo Gil Carmen luz Menéndez Department of Urology Cabuenes Hospital33394 GijonSpain Department of Pathology Cabuenes Hospital33394 GijonSpain

We report the case of an urgent nephrectomy because of a pyonephrosis and sepsis due to an unsuspected sarcomatoid transitional cell carcinoma, an infrequent subtype with a bad oncological prognosis. We present a 58-year-old man assessed by internal medicine for a general syndrome and weakness many months previously. A pyonephrotic kidney was observed at abdominal computed tomography in the context of septic shock, without suspecting the underlying cause. The pathology report described a sarcomatoid transitional cell carcinoma. Sarcomatoid transitional cell carcinoma is an invasive and infrequent subtype of urothelial tumors. The symptoms are often the same as other renal masses; however, in this case, sepsis and pyonephrosis were the rare initial symptoms.

关键词： Urothelial carcinoma Renal pelvis Sarcomatoid

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Characteristics of SnO_(2):F Thin Films Deposited by Ultrasonic Spray Pyrolysis:Effect of Water Content in Solution and Substrate Temperature

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Materials Sciences and Applications 2012年第10期3卷 690-696页

作者： mario Alberto Sánchez-García Arturo Maldonado Luis Castañeda Rutilo Silva-gonzález maría de la luz Olvera Institute of Physics National Autonomous University of Mexico(UNAM)Apartado Postal 20-364México D.F.04510Mexico Electrical Engineering Department Solid State Electronics SectionApartado 14740México D.F.07360Mexico Institute of Physics Autonomous Meritorious University of PueblaApartado Postal J-48Puebla 72570Mexico

Fluorine doped tin oxide, SnO2:F, thin films were deposited by ultrasonic chemical spray starting from tin chloride and hydrofluoric acid. The physical characteristics of the films as a function of both water content in the starting solution and substrate temperature were studied. The film structure was polycrystalline in all cases, showing that the intensity of (200) peak increased with the water content in the starting solution. The electrical resistivity decreased with the water content, reaching a minimum value, in the order of 8 × 10-4 Ωcm, for films deposited at 450℃ from a starting solution with a water content of 10 ml per 100 ml of solution;further increase in water content increased the corresponding resistivity. Optical transmittances of SnO2:F films were high, in the order of 75%, and the band gap values oscillated around 3.9 eV. SEM analysis showed uniform surface morphologies with different geometries depending on the deposition conditions. Composition analysis showed a stoichiometric compound with a [Sn/O] ratio around 1:2 in all samples. The presence of F into the SnO2 lattice was detected, within 2 at % respect to Sn.

关键词： Tin Oxide Ultrasonic Spray Pyrolysis Transparent Conducting Oxides TCO

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Three Uncommon Seaweeds of the Pacific Coast of Mexico

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American Journal of Plant Sciences 2015年第19期6卷 3187-3192页

作者： A. Catalina Mendoza-gonzález luz Elena Mateo-Cid Deisy Yazmín García-López Departamento de Botánica Escuela Nacional de Ciencias Biológicas Instituto Politécnico Nacional Campus Santo Tomás México City México

This report describes a new record and two unusual and rare species of marine algae collected from Oaxaca, Michoacán, Jalisco and Baja California Sur at Mexican Pacific coast. Boodleopsis verticillata is the first record in the Pacific shore of Mexico, in the case of Melobesia polystromatica, this is the sixth record at tropical Pacific while Litholepis sonorensisis reported for the third time in the Gulf of California. These results suggest that the taxonomic inventory of seaweed in the Pacific coast of Mexico is not yet complete, so attention must be given to the epiphytes, and other small and delicate species that inhabit the coast of Mexico. Morphological descriptions, distributional range, reproductive stage and samples examined are included.

关键词： Bryopsidales Corallinales Distribution New Records Seaweeds

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Sharp Heat Kernel Estimates in the Fourier–Bessel Setting for a Continuous Range of the Type Parameter

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Acta Mathematica Sinica,English Series 2014年第3期30卷 437-444页

作者： Adam NOWAK luz RONCAL Instytut Matematyczny Polska Akademia Nauk Departamento de Matemáticas y Computación Universidad de La Rioja

The heat kernel in the setting of classical Fourier-Bessel expansions is defined by an os- cillatory series which cannot be computed explicitly. We prove qualitatively sharp estimates of this kernel. Our method relies on establishing a connection with a situation of expansions based on Jacobi polynomials and then transferring known sharp bounds for the related Jacobi heat kernel.

关键词： Fourier-Bessel expansions heat kernel Bessel process transition density

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Inflammatory bowel disease and celiac disease:Overlaps and differences

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World Journal of Gastroenterology 2014年第17期20卷 4846-4856页

作者： Virginia Pascual Romina Dieli-Crimi Natalia López-Palacios Andrés Bodas luz maría Medrano Concepción Nú?ez UGC de Inmunología Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain Servicio de Digestivo Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain Servicio de Pediatría Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain

Recent findings demonstrate the common genetic basis for many immune-mediated diseases, and consequently, the partially shared pathogenesis. We collected these findings and reviewed the extension of these overlaps to other disease characteristics. Two autoimmune diseases were selected that also share the specific target organ, the bowel. The etiology and immunopathogenesis of both conditions characterized by chronic intestinal inflammation, inflammatory bowel disease (IBD) and celiac disease (CeD), are not completely understood. Both are complex diseases with genetics and environment contributing to dysregulation of innate and adaptive immune responses, leading to chronic inflammation and disease. CeD constitutes a particular disease because the main environmental and genetic triggers are largely known. IBD comprises two main clinical forms, Crohn’s disease and ulcerative colitis, which most likely involve a complex interplay between some components of the commensal microbiota and other environmental factors in their origin. These multifactorial diseases encompass a broad spectrum of clinical phenotypes and ages of onset, although the clinical presentation often differs depending on childhood or adult onset, with greater heterogeneity commonly observed in adults.

关键词： Disease susceptibility Gene-environment interaction Immune system Inflammation Microbiota Inflammatory bowel disease

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