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1.
Zhonghua Er Ke Za Zhi ; 57(10): 786-791, 2019 Oct 02.
Artículo en Zh | MEDLINE | ID: mdl-31594066

RESUMEN

Objective: To explore the feasibility of gender assignment in 46,XY disorders of sex development (DSD) with severe undermasculinisation mainly based on molecular diagnosis. Methods: A retrospective study of 45 patients of 46, XY DSD with severe undermasculinisation were admitted between November 2015 and October 2018 at Children's Hospital, Zhejiang University School of Medicine. The initial social gender were all female, of whom the external genital manifestations were Prader 0 to 2; the degree of masculinity was scored using external masculinisation score (EMS); the position and development of the gonads were examined by ultrasound, cystoscopy and laparoscopy, also including assessing the development of the Wolffian tube and the Müllerian tube. The level and ratio of testosterone to dihydrotestosterone before and after hCG stimulation were evaluated for the function of Leydig cell and 5α-reductase-2. Gender role scales and sandbox games were used to assess gender role behavior. Genital sensitivity to androgen stimulation was assessed; A panel including 163 genes related to gender development were determined by second-generation sequencing in all 45 patients. Finally, a multidisciplinary team (MDT) makes a gender assignment after a comprehensive analysis mainly based on the molecular etiological diagnosis. Results: Thirty-nine out of 45 patients (87%) had an identifiable genetic etiology, and the remaining 6 (13%) were negative for genetic testing. Forty-five patients had EMS less than or equal to 3 points. Sexual psychological assessment was performed in 39 patients, with male dominance in 24 (62%) and female dominance in 15 (38%). The gender assignment was 23 cases (51%) for male and 19 cases (42%) for female, and 3 cases (7%) were not completely determined. Conclusions: Molecular diagnosis provides a strong basis for appropriate gender assignment of 46, XY DSD children with severe undermasculinisation. Based on molecular diagnosis, each DSD should be analyzed by professional MDT to analyze the clinical symptoms/signs, gonadal development, gonad tumor risk, external genital morphology, sexual psychological assessment, potential fertility opportunities, parental views, Social and cultural factors, etc. make appropriate gender assignment.


Asunto(s)
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/deficiencia , Trastorno del Desarrollo Sexual 46,XY/genética , Trastornos del Desarrollo Sexual/etiología , Identidad de Género , Desarrollo Sexual/fisiología , Maduración Sexual/genética , Virilismo/genética , Niño , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/patología , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/patología , Estudios de Factibilidad , Femenino , Humanos , Recién Nacido , Masculino , Estudios Retrospectivos , Virilismo/etiología
2.
Plant Biol (Stuttg) ; 10(5): 635-42, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18761501

RESUMEN

The taxonomic status of Hystrix and phylogenetic relationships among Hystrix and its related genera of Pseudoroegneria (St), Hordeum (H), Psathyrostachys (Ns), Elymus (StH), Leymus (NsXm), Thinopyrum bessarabicum (E(b)) and Lophopyrum elongatum (E(e)) were estimated from sequences of the internal transcribed spacer (ITS) region of nuclear ribosomal DNA. The type species of Hystrix, H. patula, clustered with species of Pseudoroegneria, Hordeum, Elymus, Th. bessarabicum and Lo. elongatum, while H. duthiei ssp. duthiei, H. duthiei ssp. longearistata, H. coreana and H. komarovii were grouped with Psathyrostachys and Leymus species. The results indicate that: (i) H. patula is distantly related to other species of Hystrix, but is closely related to Elymus species; (ii) H. duthiei ssp. duthiei, H. duthiei ssp. longearistata, H. coreana and H. komarovii have a close affinity with Psathyrostachys and Leymus species, and H. komarovii might contain the NsXm genome of Leymus; and (iii) the St, H and Ns genomes in Hystrix originate from Pseudoroegneria, Hordeum and Psathyrostachys, respectively, while the Xm in Hystrix and Leymus has a complex relationship with the E or St genomes. According to the genomic system of classification in Tiritceae, it is reasonable to treat Hystrix patula as Elymus hystrix L, and the other species of Hystrix as species of a section of Leymus, Leymus Sect. Hystrix.


Asunto(s)
ADN Espaciador Ribosómico , Filogenia , Poaceae/genética , Diploidia , Genoma de Planta , Análisis de Secuencia de ADN
3.
J Endocrinol Invest ; 31(1): 8-15, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18296899

RESUMEN

Thyroid hormone is an important factor for proper development of the mammalian brain. Perinatal hypothyroidism leads to long-term behavior and neuromotor competence alterations in humans and animals. Our study aimed to investigate the effects of perinatal hypothyroidism on behavior changes of rat pups and its relation with the apoptosis of hippocampus neurons. Behavior tests were taken to evaluate the effects caused by perinatal hypothyroidism. TUNEL staining was used to analyze the apoptosis of neurons on CA3 region of hippocampus. The study suggested that perinatal hypothyroidism affects behavior development, as well as leading to the decrease in spatial learning and memory capability. This condition can be improved with hormone substitute treatment. Furthermore, the changes of learning and memory capability are closely related to the increasing number of apoptotic neurons in the hippocampus.


Asunto(s)
Apoptosis/fisiología , Conducta Animal/fisiología , Hipotiroidismo Congénito/fisiopatología , Hipocampo/fisiología , Neuronas/fisiología , Animales , Animales Recién Nacidos , Hipotiroidismo Congénito/inducido químicamente , Hipotiroidismo Congénito/tratamiento farmacológico , Emociones/efectos de los fármacos , Emociones/fisiología , Femenino , Masculino , Aprendizaje por Laberinto/efectos de los fármacos , Aprendizaje por Laberinto/fisiología , Memoria/efectos de los fármacos , Memoria/fisiología , Actividad Motora/efectos de los fármacos , Actividad Motora/fisiología , Embarazo , Propiltiouracilo , Ratas , Ratas Sprague-Dawley , Hormonas Tiroideas/farmacología , Hormonas Tiroideas/uso terapéutico
4.
Plant Biol (Stuttg) ; 20(2): 365-373, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29139179

RESUMEN

Shikonin and its derivatives are important medicinal secondary metabolites accumulating in roots of Lithospermum erythrorhizon. Although some membrane proteins have been identified as transporters of secondary metabolites, the mechanisms underlying shikonin transport and accumulation in L. erythrorhizon cells still remain largely unknown. In this study, we isolated a cDNA encoding LeMRP, an ATP-binding cassette transporter from L. erythrorhizon, and further investigated its functions in the transport and biosynthesis of shikonin using the yeast transformation and transgenic hairy root methods, respectively. Real-time PCR was applied for expression analyses of LeMRP and shikonin biosynthetic enzyme genes. Functional analysis of LeMRP using the heterologous yeast cell expression system showed that LeMRP could be involved in shikonin transport. Transgenic hairy roots of L. erythrorhizon demonstrated that LeMRP overexpressing hairy roots produced more shikonin than the empty vector (EV) control. Real-time PCR results revealed that the enhanced shikonin biosynthesis in the overexpression lines was mainly caused by highly up-regulated expression of genes coding key enzymes (LePAL, HMGR, Le4CL and LePGT) involved in shikonin biosynthesis. Conversely, LeMRP RNAi decreased the accumulation of shikonin and effectively down-regulated expression level of the above genes. Typical inhibitors of ABC proteins, such as azide and buthionine sulphoximine, dramatically inhibited accumulation of shikonin in hairy roots. Our findings provide evidence for the important direct or indirect role of LeMRP in transmembrane transport and biosynthesis of shikonin.


Asunto(s)
Transportadoras de Casetes de Unión a ATP/metabolismo , Lithospermum/metabolismo , Naftoquinonas/metabolismo , Proteínas de Plantas/metabolismo , Transportadoras de Casetes de Unión a ATP/genética , Clonación Molecular , Regulación de la Expresión Génica de las Plantas , Lithospermum/genética , Proteínas de Transporte de Membrana/metabolismo , Filogenia , Proteínas de Plantas/genética , Plantas Modificadas Genéticamente , Reacción en Cadena en Tiempo Real de la Polimerasa , Análisis de Secuencia de ADN
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