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Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report

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World Journal of Clinical Cases 2019年第23期7卷 4029-4035页

作者： Adina Neumann Miguel Angel Alcantara-Ortigoza Ariadna Gonzalez-del Angel Felipe Camargo-Diaz Esther Lopez-Bayghen Laboratorio de Investigacion y Diagnostico Molecular Instituto de Infertilidad y Genetica Mexico SCINGENESMexico City 05320Mexico Instituto nacional de pediatria Torre de InvestigacionMexico City 04530Mexico Laboratorio de Biologia Molecular Departamento de Genetica HumanaInstituto Nacional de PediatriaMexico City 04530Mexico departamento de Toxicologia Centro de Investigacion y de Estudios Avanzados del Instituto Politecnico Nacional(CINVESTAV-IPN)Mexico City 07360Mexico

BACKGROUND Laron syndrome(LS)is an autosomal recessive hereditary condition affecting only 1/1000000 *** cause is associated with mutations in the growth hormone(GH)receptor(GHR),leading to GH *** patients typically present with severe growth retardation,obesity,and abnormal sexual ***,LS diagnosis is performed ***,we assessed the efficiency of Pre-implantation Genetic Testing(PGT)coupled with monoplex-polymerase chain reaction(PCR)technology for detecting this monogenic disease in embryos from a couple confirmed as LS heterozygous carriers CASE SUMMARY The couple LS-carriers were confirmed by the presence of a first child born with *** couple underwent a standard in vitro fertilization(IVF)*** was collected from trophectoderm cells from day 5 *** genome amplification(WGA)was performed using a Sureplex DNA Amplification System and analyzed by PCR,targeting the deletion of the exons 5 and 6 in the GHR gene as well as PGT by Next-generation Sequencing(Illumina).Eleven embryos were collected and analyzed.27.3%were the wild type for GHR,45.5%were heterozygotes,and 18.2%homozygous *** embryo yielded no *** 2-embryos transfers were performed;2 normal homozygous and four heterozygous carriers were selected for *** first two transfers were unsuccessful,whereas the final transfer with two heterozygous embryos resulted in clinical *** genomic composition of the fetus was verified,applying the same techniques using amniocytes,extracted after 21 wk of the ongoing *** fetus was confirmed as GHR deletion in exon 5-6,carrier.A non-affected baby was *** Here,we present a case demonstrating that using WGA as a template in addition to PCR targeting specific gene regions,exons 5 and 6 on the GHR gene,could identify LS carrier *** provides evidence that WGA and PCR serve as an excellent tool to detect this specific monogenic disease in IVF e

关键词： Growth hormone insensitivity Growth hormone receptor mutations Intragenic deletions Molecular diagnosis Embryo diagnosis Laron syndrome Case report

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Occult hepatitis B virus infection among Mexican human immunodeficiency virus-1-infected patients

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World Journal of Gastroenterology 2014年第37期20卷 13530-13537页

作者： Ma Teresa Alvarez-Muoz Angelica Maldonado-Rodriguez Othon Rojas-Montes Rocio Torres-Ibarra Fernanda Gutierrez-Escolano Guillermo Vazquez-Rosales Alejandro Gomez Onofre Muoz Javier Torres Rosalia Lira Unidad de Investigacion Medica en Enfermedades Infecciosas y Parasitarias Hospital de PediatriaCentro Medico Nacional Siglo XXIInstituto Mexicano del Seguro Social Clinica de Hepatitis Hospital de Infectologia Centro Médico Nacional La Raza Hospital General Regional No.72 IMSS Unidad de Investigacion Medica en Enfermedades Infecciosas y Parasitarias Hospital de PediatriaCentro Medico Nacional Siglo XXIInstituto Mexi-cano del Seguro Social Hospital Infantil de Mexico "Federico Gomez"

AIM: To determine the frequency of occult hepatitis B infection (OHBI) in a group of human immunodeficiency virus (HIV)-1+/ hepatitis B surface antigen negative (HBsAg)- patients from Mexico.

关键词： Hepatitis B virus Occult hepatitis B virus infection Human immunodeficiency virus Hepatitis B surface antigen negative Risk factors Molecular diagnostics

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Role of the HLA-DQ locus in the development of chronic gastritis and gastric carcinoma in Mexican patients

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World Journal of Gastroenterology 2006年第48期12卷 7762-7767页

作者： Roberto Herrera-Goepfert Jesús K Yamamoto-Furusho Luis F Oate-Ocaa Margarita Camorlinga-Ponce Leopoldo Muoz Jorge A Ruiz-Morales Gilberto Vargas-Alarcón Julio Granados Cellular Biology Section department of Pathology Institute Nacional de Cancerologia (INCan) Mexico City Mexico department of Immunology and Rheumatology Institute Nacional de Ciencias Medicas y Nutricion Salvador Zubiran Mexico City Mexico Department of Gastroenterology Institute Nacional de Ciencias Medicas y Nutricion Salvador Zubiran Mexico City Mexico department of Gastroenterology (INCan) Mexico City Mexico Medical Research Unit on Infectious and Parasitic Diseases Hospital de Pediatria Centro Medico Nacional Siglo XXI (CMN-SXXI) Institute Mexicano del Seguro Social (IMSS) Mexico City Mexico department of Immunology and Rheumatology Institute Nacional de Ciencias Medicas y Nutricion Salvador Zubiran Mexico City Mexico department of Physiology Institute Nacional de Cardiologia Ignacio Chavez Mexico City Mexico

AIM： To determine the HLA-DQ locus in Mexican patients with Chronic gastritis and gastric adenocarcinoma.METHODS： Oligotyping for HLA-DQ locus was performed in 45 Mexican patients with chronic gastritis and 13 Mexican patients with diffuse-type gastric adenocarcinoma, and was then compared with 99 clinically healthy unrelated individuals. H pylori infection and CagA status were assessed in patients by enzyme-linked immunosorbent assay （EUSA） method. RESULTS： We found a significant increased frequency of HLA-DQBI＊0401 allele in Hpylori-positive patients with chronic gastritis when compared with healthy subjects [19 vs 0%, P = 1 × 10^-7, odds ratio （OR） = 4.96; 95% confidence interval （95% CI）, 3.87-6.35]. We also found a significant increased frequency of HLA-DQBI＊0501 in patients with diffuse-type gastric carcinoma in comparison with healthy individuals （P = 1 × 10^4, OR = 13.07; 95% CI, 2.82-85.14）.CONCLUSION： HLA-DQ locus may play a different role in the development of H pylori-related chronic gastritis and difffuse-type gastric adenocarcinoma in the Mexican Mestizo population.

关键词： HLA-DQ HLA-DQ5 HLA-DQBI*0501 Hpy/or/ Chronic gastritis Gastric cancer Diffuse-type adenocarcinoma

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Prevention of Femoral Head deformity after Ischemic Necrosis Using Ibandronate Acid and Growth Factor in Immature Pigs

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Surgical Science 2012年第4期3卷 194-199页

作者： Bibiana dello Russo Eduardo Luis Baroni Nicolas Saravia Valeria Amelong Fabiana Lubiniecky Marcelo Asprea Gustavo Williams Susana Rodriguez J. P. Garrahan Hospital nacional de pediatria Ciudad Autónoma de Buenos Aires Buenos Aires Argentina

Background: Femoral head deformity is the most severe sequela of ischemic necrosis in skeletally immature patients. development of severe deformity shortens useful survival time of the joint due to the appearance of early degenerative changes. Preservation of the trabecular architecture through inhibition of osteoclastic bone resorption may minimize the development of the deformity in an animal model of ischemic necrosis of the femoral head. Aims: To determine if a highly potent antiabsorptive agent, ibandronate, would inhibit bone resorption during necrotic femoral head repair to avoid subsequent flattening and deformity, to determine if the use of platelet-rich plasma stimulates bone repair and neovascularization of the damaged femoral head, and to evaluate if the combination of both therapies can preserve the femoral head while stimulating new bone formation in an animal model of ischemic necrosis. Methods: Ischemic necrosis of the femoral head was induced by surgical ligature of the circumflex vessels in 10 Landrace pigs. The animals were divided into four different groups and were administered ibandronate acid, platelet-rich plasma, or both. The contralateral, untreated femoral heads with surgical ligature of the circumflex vessels served as the control group. All animals were killed three months after surgery and the femoral head was evaluated both radiographically and histologically. The femur length was measured on radiographs and compared among the ***: Final femoral length was significantly longer in the group treated with a combination of both therapies (platelet-rich plasma-ibandronate acid) compared to the others groups, with a significant difference between groups. The histological findings showed increased osteoblastic activity and thickened trabiculae, a higher rate of neovascularization, and focal hyperplasia greater bone resorption and neovascularization. Only slight changes (femoral length) were observed in the animals that received pla

关键词： Perthe’s Disease Avascular Necrosis Ibandronate Acid Platelet-Rich Plasma

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Occult hepatitis B virus co-infection in human immunodeficiency virus-positive patients: A review of prevalence, diagnosis and clinical significance

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World Journal of Hepatology 2015年第2期7卷 253-260页

作者： Angelica Maldonado-Rodriguez Ana Maria Cevallos Othon Rojas-Montes Karina Enriquez-Navarro Ma Teresa Alvarez-Mu?oz Rosalia Lira Unidad de Investigacion Medica en Enfermedades Infecciosas y Parasitarias Hospital de Pediatria Centro Medico Nacional Siglo XXI Instituto Mexicano del Seguro Social departamento de Biologia Molecular y Biotecnologia Instituto de Investigaciones Biomedicas Universidad Nacional Autonoma de Mexico

The prevalence of human immunodeficiency virus(HIV) and hepatitis B virus(HBV) co-infection is high as they share similar mechanisms of transmission. The development and widespread use of highly sensitive tests for HBV diagnosis has demonstrated that a significant proportion of apparently healthy individuals with evidence of exposure to HBV continue to carry fully functional HBV DNA in their hepatocytes, a situation that predisposes them to the development of progressive liver disease and hepatocellular carcinoma. The presence of co-infections frequently influences the natural evolution of each of the participating infections present by either facilitating their virulence or competing for resources. Furthermore, the drugs used to treat these infections may also contribute to changes in the natural course of these infections, making the analysis of the impact of co-infection more difficult. The majority of studies has examined the impact of HIV on overt chronic hepatitis B, finding that co-infection carries an increased risk of progressive liver disease and the development of hepatocellular carcinoma. Although the effect of HIV on the natural history of occult hepatitis B infection(OBI) has not been fully assessed, all available data suggest a persisting risk of repeated flares of hepatitis and progressive liver disease. We describe studies regarding the diagnosis, prevalence and clinical significance of OBI in HIVpositive patients in this short review. Discrepancies in worldwide prevalence show the urgent need for the standardization of diagnostic criteria, as established by the Taormina statements. Ideally, standardized protocols for testing should be employed to enable the comparison of data from different groups. Additional studies are needed to define the differences in risk for OBI without HIV and in HIV-HBV co-infected patients with or without overt disease.

关键词： Hepatitis B virus Occult hepatitis B virus infection Hepatitis C virus Egypt Blood donors Hemodialysis Hepatitis B virus reactivation

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Stripe of normal mechanisms for crustal earthquakes with M ≤ 3.5 flanking the western side of the thrust front zone in the Andes backarc

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Natural Science 2013年第8期5卷 18-26页

作者： Silvina Nacif Enrique Triep Renzo Furlani Silvana Spagnotto Consejo nacional de Investigaciones Científicas y Técnicas Universidad Nacional de San Luis San Luis Argentina Fondo Argentino Sectorial Agencia de Promoción Científica y Tecnológica Godoy Cruz Argentina nstituto Geofísico Sismológico F. Volponi (IGSV) Facultad de Ciencias Exactas Físicas y Naturales Universidad Nacional de San Juan San Juan Argentina

Earthquakes with magnitudes M ≤ 3.5 were registered in the Andes backarc between ~32.5°S 33.75°S within a temporary experiment from November 2002 to March 2003. Data were collected from 15 seismological broad band stations, deployed above flat subduction section and also above the transitional to normal section of the Nazca plate. Seismic events were located mostly in part of the Southern Precordillera and Cerrilladas Pedemontanas of Mendoza Province. Focal mechanism solutions were obtained, for selected data between15 kmand35 kmdepths, from P wave first motion using FOCMEC software. A band trending NW-NNW of normal focal mechanism earthquakes is located just by the thrust front towards West, and covers the Southern tip of the Southern Precordillera and the Western side of the Cerrilladas Pedemontanas, Mendoza Province, Argentina. Thrust focal mechanism solutions obtained in the present work for events with magnitude less than or equal to 3.5 also show that the thrust front South of ~33.1°S is located in the same place as Mw ≥ 3.6 earthquakes. The most significant findings in this work are these signals of extensional regimen which appear in a compressional subduction tectonic regimen. Nevertheless the short temporal experiment precludes firm interpretations about this particular phenomenon. Probably it is related to a temporary stress relaxation. The normal earthquakes are likely associated to normal faults, and/or to their subsidiaries, that were inverted by contraction and now re-inverted at least transitorily as normal. These faults, which are near and to the East of the suture between Chilenia and Cuyania Paleozoic terranes, were originally involved in the Cuyo Triassic basin formation.

关键词： Small Magnitudes Seismicity Normal Focal Mechanism Solutions Normal Fault Activation Regional Compressional Regime

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Fractional Optical Solitons and Fractional Noether’s Theorem with Ortigueira’s Centered derivatives

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Applied Mathematics 2016年第12期7卷 1340-1352页

作者： Jorge Fujioka Manuel Velasco Argel Ramírez Instituto de Física Departamento De Física-Química Universidad Nacional Autónoma de México México D.F. México nstituto de Física Departamento De Física-Química Universidad Nacional Autónoma de México México D.F. México Centro de Ciencias de la Atmósfera Universidad Nacional Autónoma de México México D.F. México

This paper shows that the centered fractional derivatives introduced by Manuel Duarte Ortigueira in 2006 are useful in the description of optical solitons. It is shown that we can construct a fractional extension of the nonlinear Schrödinger (NLS) equation which incorporates Ortigueira’s derivatives and has soliton solutions. It is also shown that this fractional NLS equation has a Lagrangian density and can be derived from a variational principle. Finally, a fractional extension of Noether’s theorem is formulated to determine the conserved quantities associated to the invariances of the action integral under infinitesimal transformations.

关键词： Fractional derivatives Centered derivatives Noether’s Theorem Ortigueira Optical Solitons

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Pediatric functional constipation treatment with Bifi dobacterium-containing yogurt:A crossover,double-blind,controlled trial

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World Journal of Gastroenterology 2011年第34期17卷 3916-3921页

作者： Paula VP Guerra Luiza N Lima Tassia C Souza Vanessa Mazochi Francisco J Penna Andreia M Silva Jacques R Nicoli Elizabet V Guimares departamento de pediatria Faculdade de Medicina Universidade Federal de Minas Gerais30130-100 Belo Horizonte MG Brazil departamento de Micro-biologia Instituto de Ciências Biológicas Universidade Federalde Minas Gerais32270-901 Belo Horizonte MG Brazil Andreia M Silva Universidade Federal deSo Joo del Rei Campus de Sete Lagoas35701-970 So Joodel Rey MG Brazil

AIM: To evaluate the treatment of pediatric functional chronic intestinal constipation (FCIC) with a probiotic goat yogurt. METHODS: A crossover double-blind formula-controlled trial was carried out on 59 students (age range: 5-15 years) of a public school in Belo Horizonte, MG, Brazil, presenting a FCIC diagnostic, according to Roma Ⅲ criteria. The students were randomized in two groups to receive a goat yogurt supplemented with 109 colony forming unit/mL Bifidobacterium longum (***) (probiotic) daily or only the yogurt for a period of 5 wk (formula). Afterwards, the groups were intercrossed for another 5 wk. defecation frequency, stool consistency and abdominal and defecation pain were ***: Both treatment groups demonstrated improvement in defecation frequency compared to baseline. However, the group treated with probiotic showed most signif icant improvement in the f irst phase of the study. An inversion was observed after crossing over, resulting in a reduction in stool frequency when this group was treated by formula. Probiotic and formula improved stool consistency in the f irst phase of treatment, but the improvement obtained with probiotic was significantly higher (P = 0.03). In the second phase of treatment, the group initially treated with probiotic showed worseningstool consistency when using formula. However, the difference was not signif icant. A signif icant improvement in abdominal pain and defecation pain was observed with both probiotic and formula in the first phase of treatment, but again the improvement was more signif icant for the group treated with B. longum during phase I (P defecation frequency (P = 0.012), defecation pain (P = 0.046) and abdominal pain (P = 0.015).

关键词： Functional chronic constipation Probiotic Bifi dobacterium longum Yogurt Adolescents Children

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Effect of propranolol on the splanchnic and peripheral renin angiotensin system in cirrhotic patients

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World Journal of Gastroenterology 2008年第44期14卷 6824-6830页

作者： Walkíria Wingester Vilas-Boas Antnio Ribeiro-Oliveira Jr Renata da Cunha Ribeiro Renata Lúcia Pereira Vieira Jerusa Almeida Ana Paula Nadu Ana Cristina Sim■es e Silva Robson Augusto Souza Santos Laboratório de Hipertenso Departamento de Fisiologia e BiofísicaICB-UFMGAv. Antonio Carlos6627Belo HorizonteMG31270-901Brazil Laboratório de Endocrinologia Departamento de Clínica MédicaFaculdade de Medicina-UFMGAv. Alfredo Balena190Belo HorizonteMG30130-100Brazil departamento de pediatria Faculdade de MedicinaUniversidade Federal de Minas Gerais (UFMG)Av. Alfredo Balena190Belo HorizonteMG30130-100Brazil

AIM:To evaluate the effect of β-blockade on angiotensins in the splanchnic and peripheral circulation of cirrhotic patients and also to compare hemodynamic parameters during liver transplantation according to propranolol pre-treatment or not. METHODS:Patients were allocated into two groups:outpatients with advanced liver disease(LD) and during liver transplantation(LT). Both groups were subdivided according to treatment with propranolol or not. Plasma was collected through peripheral venipuncture to determine plasma renin activity(PRA),Angiotensin(Ang) Ⅰ,Ang Ⅱ,and Ang-(1-7) levels by radioimmunoassay in LD group. During liver transplantation,hemodynamic parameters were determined and blood samples were obtained from the portal vein to measure renin angiotensin system(RAS) ***:PRA,Ang Ⅰ,Ang Ⅱ and Ang-(1-7) were signifi cantly lower in the portal vein and periphery in all subgroups treated with propranolol as compared to non-treated. The relationships between Ang-(1-7) and Ang Ⅰ levels and between Ang Ⅱ and Ang Ⅰ were significantly increased in LD group receiving propranolol. The ratio between Ang-(1-7) and Ang Ⅱ remained unchanged in splanchnic and peripheral circulation in patients under β-blockade,whereas the relationship between Ang Ⅱ and Ang Ⅰ was significantly increased in splanchnic circulation of LT patients treated with propranolol. During liver transplantation,cardiac output and index as well systemic vascular resistance and index were reduced in propranolol-treated subgroup. CONCLUSION:In LD group,propranolol treatment reduced RAS mediators,but did not change the ratio between Ang-(1-7) and Ang Ⅱ in splanchnic and peripheral circulation. Furthermore,the modification of hemodynamic parameters in propranolol treated patients was not associated with changes in the angiotensin ratio.

关键词： β-blockade Cirrhosis Renin angiotensinsystem Angiotensin-(1-7)

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Sensory neurons in the spinal cord of nominal female embryos in the marine turtle Lepidochelys olivacea respond to shifts in incubation temperature:implications for temperature dependent sex determination

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Advances in Bioscience and Biotechnology 2011年第1期2卷 1-7页

作者： Francisco Jimenez-Trejo Leonora Olivos-Cisneros Julieta Mendoza-Torreblanca Sofia Diaz-Cintra Esperanza-Melendez-Herrera Armida Baez-Saldana Patricia Padilla Cortes Gabriel Gutierrez-Ospina Alma Lilia Fuentes-Farias departamento de Biologia Facultad de QuimicaUniversidad Nacional Autonoma de MexicoMexico D.F.Mexico 04510 departamento de Biologia Celular y Fisiologia Instituto de Investigaciones BiomedicasUniversidad Nacional Autonoma de MexicoMexico D.F.Mexico 04510 departamento de Neuroquimica Instituto Nacional de PediatriaMexicoDF.Mexico 04530 departamento de Neurobiologia del desarrollo y Neurofisiologia Instituto de NeurobiologiaUniversidad Nacional Autonoma de MexicoCampus UNAM-JuriquillaJuriquillaQueretaro Mexico AP.1-1141 Laboratorio de Invertebrados y Ecofisiologia Animal Facultad de BiologiaUniversidad Michoacana de San Nicolas de HidalgoMoreliaMichoacanMexico 58040 Unidad de Cromatografia Liquida de Alta Resolucion Instituto de Investigaciones BiomedicasUniversidad Nacional Autonoma de MexicoMexico D.F.Mexico 04510

Gonadal determination in marine turtles depends on incubation temperature. The mechanisms that spark off this process remain unclear. Previously, we proposed that sensory nerves reaching the gonadal primordium in nominal female embryos of Lepidochelys (L) olivacea may sense and signal incubation temperature. These nerves could later trigger ovarian determination by releasing neurotransmitters in a code constructed based on the thermal information (Gutierrez-Ospina et al., Acetylcholinesterase-positive innervation is present at the undifferentiated stages of the sea turtle Lepidochelys olivacea embryo gonads: implications for temperature-dependent sex determination, J. Comp. Neurol. 410 (1999) 90-98). The hypothesis briefly described, however, has been recently refuted under weak theoretical grounds and experimental misinterpretations (see introduction). Here, we present preliminary results that show that nominal female embryos have sensory neurons located in the dorsal horn laminae I and II of the lumbar spinal cord that display increased c-Fos-like immuno-staining after being incubated either at 15°C or 50°C. Because these spinal neurons are the primary central target of dorsal root ganglion neurons that innervate the urogential crest, these observations keep open the possibility that gonadal sensory nerves indeed signal thermal information that could later be used to trigger or instruct ovarian specification in marine turtles.

关键词： Reptiles Ovarian determination c-Fos Incubation Temperature Sensory Neurons

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