Resumen es: El objetivo del trabajo consistio en analizar la relacion del nivel serico de homocis... more Resumen es: El objetivo del trabajo consistio en analizar la relacion del nivel serico de homocisteina (Hcy) con los polimorfismos de la metilentetrahidrofolato redu...
Genetic testing and molecular biomarkers, Jan 10, 2017
To investigate the relationships of polymorphisms in genes whose protein products are related in ... more To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX). Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28). Single nucleotide polymorphisms (SNPs) genotyping was performed by allelic discrimination using real-time polymerase chain reaction. Differences in genotype (homozygotic or heterozygotic for each allele), allele distributions, and phenotype were not statistically significant between the RA group and control populations. We did not find any association between the studied polymorphisms and disease activity nor with the intragroup variables (e.g., clinical activity, ...
Revista Medica De Costa Rica Y Centroamerica, May 15, 2014
have been described in the promoter region of TNF-α gene. The present work is a review from previ... more have been described in the promoter region of TNF-α gene. The present work is a review from previous reports of the association of the-308 G>A and-238 G>A polymorphisms in the promoter region of TNF-α gen and RA.
Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zim... more Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.
Revista médica del Instituto Mexicano del Seguro Social
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common malformation. The aetiol... more Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common malformation. The aetiology is multifactorial. An incidence of 1.1-1.39 per 1000 new births had been reported in Mexico. The folic acid intake in preconceptional stage has been reported to prevent malformations such as neural tube defects (NTD) and NSCLP. The C677T variant of the methylene-tetrahydrofolate reductase (MTHFR) gene is responsible of a thermolabile form, related to decrease of folate and increase homocysteine. This variant has been associated with CLP, in different populations, but results are still controversial. Our objective was to determine the allelic (AF) and genotypic frequency (GF) of the MTHFR-C677T variant in Mexican children with NSCLP. Transverse comparative study in 67 Mexican children with NSCLP and a control group with 70 unrelated Mexican individuals without NSCLP. The AF in NSCLP was 39 %. There was no statistical difference between AF in the two groups (39 versus 41). In this popu...
The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech ... more The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips. Four cases with celiac disease have been described previously. In two other cases, autosomal dominant inheritance has been suggested. We describe a boy aged 2 years 11 months with clinical features of FHS and celiac disease. His mother also presents minor phenotypical characteristics, suggesting that the present observation corresponds to a variant example of familial FHS.
We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication... more We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X chromosome; FISH studies with a probe for total human telomeres showed hybridisation signal in the telomeres on both the normal and the deleted X chromosomes. Microsatellite analysis in the proposita and her family permitted us to conclude to the maternal origin of the deleted X chromosome, and to detect using the marker DXS1106 (Xq22) a probable meiotic recombination event above the breakage point suggesting that the deletion occurred underneath this point. The mild Turner stigmata may be explained by the 45,X cell line, and the gonadal dysgenesis probably by a partial deletion of the gonadal dysgenesis region Xq13-q23 (excluding Xq22).
Access to full text and tables of contents, including tentative ones for forthcoming issues: www.... more Access to full text and tables of contents, including tentative ones for forthcoming issues: www.karger.com/journals/goi/goi_bk.htm No. 2 140 Severe Unilateral Hydrothorax as the Only Manifestation of the Ovarian Hyperstimulation Syndrome
The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has b... more The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes. Of the 100 sibships, 14 (14%) had more than 1 affected member. The pregnancy was shorter than 28 weeks in 56/205 (27%) of the total outcomes. Of 104 evaluable previous outcomes, 34 corresponded to short pregnancies, positioned before an affected (23/60, 38%), a healthy (2/18, 11%), or an undiagnosed product (9/26, 35%). Short pregnancies subsequent to affected outcomes were also increased. The inter-gestational interval varied according to diagnosis: it was longer in the affected group than in the healthy one (0.1 > p > 0.05) and the subsequent intervals were shorter for the affected group (p < 0.05). An increased number of abortions adjacent to affected offspring and a changing fertility pattern, depending on...
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retarda... more Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients. Clin Dysmorphol 13:91-94 c 2004 Lippincott Williams & Wilkins.
A 15 year old girl with the Myhre type growth-mental retardation syndrome is described. This is t... more A 15 year old girl with the Myhre type growth-mental retardation syndrome is described. This is the first female case reported in the literature. The inheritance pattern of this condition is not clear.
This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCo... more This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License (www.karger.com/OA-license), applicable to the online version of the article only. Distribution for non-commercial purposes only.
Cuestiones Constitucionales Revista Mexicana de Derecho Constitucional, 2005
VARIOS AUTORES, Pro tec ción uni ver sal de los de re chos hu ma nos, Mé xi co, Co mi sión Na cio... more VARIOS AUTORES, Pro tec ción uni ver sal de los de re chos hu ma nos, Mé xi co, Co mi sión Na cio nal de los De re chos Hu ma nos, 2004, 171 pp. El Insti tu to de Inves ti ga cio nes Ju rí di cas de la Uni ver si dad Na cio nal Autó no ma de Mé xi co, a tra vés de la co lec ción "Nues tros de re chos", ha contri bui do sig ni fi ca ti va men te a la di fu sión de los de re chos que el or den ju rí di co me xi ca no re co no ce a los in te gran tes de di ver sos sec to res so ciales o gru pos iden ti fi ca dos por la con cu rren cia, en quie nes los cons ti tuyen, de cier to nú me ro de obli ga cio nes y fa cul ta des. A este mis mo fin atien den al gu nas pu bli ca cio nes de la Co mi sión Na cio nal de los De re chos Hu ma nos (CNDH), en tre ellas, la exa mi na da en esta nota. Ante rior men te me he re fe ri do, tam bién a tra vés de no tas bi blio grá fi cas, a otras apor tacio nes de la CNDH al co no ci mien to de los de re chos fun da men ta les de las per so nas. El opúscu lo en cues tión fi gu ra den tro de la se rie "Tran si ción de mo cráti ca y pro tec ción a los de re chos hu ma nos". Los sie te tí tu los que com ponen esta se rie son Pro tec ción uni ver sal de los de re chos hu ma nos-al que co rres pon de la obra que aho ra ana li zo-, Alter nan cia po lí ti ca o tran si ción de mo crá ti ca, Jus ti cia y de mo cra cia, Avan ces tec no ló gi cos de los de re chos hu ma nos, De re chos de se gun da ge ne ra ción, Mi gra ción, y De re chos hu ma nos y ser vi cios mé di cos, te mas, to dos ellos, de no ta ble ac tua li dad y evi den te re le van cia, a cuya ex po si ción ha con tri bui do un buen nú me ro de au to res: fun cio na rios de la co mi sión, aca dé mi cos-muchos de ellos per te ne cien tes al Insti tu to de Inves ti ga cio nes Ju rí di cas de la UNAM-, ca te drá ti cos de di ver sas es cue las y fa cul ta des, fun cio na rios pú bli cos, pe rio dis tas, pro fe sio na les y re pre sen tan tes de or ga ni za cio nes no gu ber na men ta les o ins ti tu cio nes de la so cie dad ci vil que con cu rren en las áreas com pren di das por los fas cícu los, en fin, se ten ta y nue ve au to res, se gún in for ma José Luis So be ra nes Fer nán dez en la pre sen ta ción del con jun to (p. 8).
Resumen es: El objetivo del trabajo consistio en analizar la relacion del nivel serico de homocis... more Resumen es: El objetivo del trabajo consistio en analizar la relacion del nivel serico de homocisteina (Hcy) con los polimorfismos de la metilentetrahidrofolato redu...
Genetic testing and molecular biomarkers, Jan 10, 2017
To investigate the relationships of polymorphisms in genes whose protein products are related in ... more To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX). Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28). Single nucleotide polymorphisms (SNPs) genotyping was performed by allelic discrimination using real-time polymerase chain reaction. Differences in genotype (homozygotic or heterozygotic for each allele), allele distributions, and phenotype were not statistically significant between the RA group and control populations. We did not find any association between the studied polymorphisms and disease activity nor with the intragroup variables (e.g., clinical activity, ...
Revista Medica De Costa Rica Y Centroamerica, May 15, 2014
have been described in the promoter region of TNF-α gene. The present work is a review from previ... more have been described in the promoter region of TNF-α gene. The present work is a review from previous reports of the association of the-308 G>A and-238 G>A polymorphisms in the promoter region of TNF-α gen and RA.
Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zim... more Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.
Revista médica del Instituto Mexicano del Seguro Social
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common malformation. The aetiol... more Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common malformation. The aetiology is multifactorial. An incidence of 1.1-1.39 per 1000 new births had been reported in Mexico. The folic acid intake in preconceptional stage has been reported to prevent malformations such as neural tube defects (NTD) and NSCLP. The C677T variant of the methylene-tetrahydrofolate reductase (MTHFR) gene is responsible of a thermolabile form, related to decrease of folate and increase homocysteine. This variant has been associated with CLP, in different populations, but results are still controversial. Our objective was to determine the allelic (AF) and genotypic frequency (GF) of the MTHFR-C677T variant in Mexican children with NSCLP. Transverse comparative study in 67 Mexican children with NSCLP and a control group with 70 unrelated Mexican individuals without NSCLP. The AF in NSCLP was 39 %. There was no statistical difference between AF in the two groups (39 versus 41). In this popu...
The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech ... more The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips. Four cases with celiac disease have been described previously. In two other cases, autosomal dominant inheritance has been suggested. We describe a boy aged 2 years 11 months with clinical features of FHS and celiac disease. His mother also presents minor phenotypical characteristics, suggesting that the present observation corresponds to a variant example of familial FHS.
We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication... more We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X chromosome; FISH studies with a probe for total human telomeres showed hybridisation signal in the telomeres on both the normal and the deleted X chromosomes. Microsatellite analysis in the proposita and her family permitted us to conclude to the maternal origin of the deleted X chromosome, and to detect using the marker DXS1106 (Xq22) a probable meiotic recombination event above the breakage point suggesting that the deletion occurred underneath this point. The mild Turner stigmata may be explained by the 45,X cell line, and the gonadal dysgenesis probably by a partial deletion of the gonadal dysgenesis region Xq13-q23 (excluding Xq22).
Access to full text and tables of contents, including tentative ones for forthcoming issues: www.... more Access to full text and tables of contents, including tentative ones for forthcoming issues: www.karger.com/journals/goi/goi_bk.htm No. 2 140 Severe Unilateral Hydrothorax as the Only Manifestation of the Ovarian Hyperstimulation Syndrome
The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has b... more The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes. Of the 100 sibships, 14 (14%) had more than 1 affected member. The pregnancy was shorter than 28 weeks in 56/205 (27%) of the total outcomes. Of 104 evaluable previous outcomes, 34 corresponded to short pregnancies, positioned before an affected (23/60, 38%), a healthy (2/18, 11%), or an undiagnosed product (9/26, 35%). Short pregnancies subsequent to affected outcomes were also increased. The inter-gestational interval varied according to diagnosis: it was longer in the affected group than in the healthy one (0.1 > p > 0.05) and the subsequent intervals were shorter for the affected group (p < 0.05). An increased number of abortions adjacent to affected offspring and a changing fertility pattern, depending on...
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retarda... more Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients. Clin Dysmorphol 13:91-94 c 2004 Lippincott Williams & Wilkins.
A 15 year old girl with the Myhre type growth-mental retardation syndrome is described. This is t... more A 15 year old girl with the Myhre type growth-mental retardation syndrome is described. This is the first female case reported in the literature. The inheritance pattern of this condition is not clear.
This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCo... more This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License (www.karger.com/OA-license), applicable to the online version of the article only. Distribution for non-commercial purposes only.
Cuestiones Constitucionales Revista Mexicana de Derecho Constitucional, 2005
VARIOS AUTORES, Pro tec ción uni ver sal de los de re chos hu ma nos, Mé xi co, Co mi sión Na cio... more VARIOS AUTORES, Pro tec ción uni ver sal de los de re chos hu ma nos, Mé xi co, Co mi sión Na cio nal de los De re chos Hu ma nos, 2004, 171 pp. El Insti tu to de Inves ti ga cio nes Ju rí di cas de la Uni ver si dad Na cio nal Autó no ma de Mé xi co, a tra vés de la co lec ción "Nues tros de re chos", ha contri bui do sig ni fi ca ti va men te a la di fu sión de los de re chos que el or den ju rí di co me xi ca no re co no ce a los in te gran tes de di ver sos sec to res so ciales o gru pos iden ti fi ca dos por la con cu rren cia, en quie nes los cons ti tuyen, de cier to nú me ro de obli ga cio nes y fa cul ta des. A este mis mo fin atien den al gu nas pu bli ca cio nes de la Co mi sión Na cio nal de los De re chos Hu ma nos (CNDH), en tre ellas, la exa mi na da en esta nota. Ante rior men te me he re fe ri do, tam bién a tra vés de no tas bi blio grá fi cas, a otras apor tacio nes de la CNDH al co no ci mien to de los de re chos fun da men ta les de las per so nas. El opúscu lo en cues tión fi gu ra den tro de la se rie "Tran si ción de mo cráti ca y pro tec ción a los de re chos hu ma nos". Los sie te tí tu los que com ponen esta se rie son Pro tec ción uni ver sal de los de re chos hu ma nos-al que co rres pon de la obra que aho ra ana li zo-, Alter nan cia po lí ti ca o tran si ción de mo crá ti ca, Jus ti cia y de mo cra cia, Avan ces tec no ló gi cos de los de re chos hu ma nos, De re chos de se gun da ge ne ra ción, Mi gra ción, y De re chos hu ma nos y ser vi cios mé di cos, te mas, to dos ellos, de no ta ble ac tua li dad y evi den te re le van cia, a cuya ex po si ción ha con tri bui do un buen nú me ro de au to res: fun cio na rios de la co mi sión, aca dé mi cos-muchos de ellos per te ne cien tes al Insti tu to de Inves ti ga cio nes Ju rí di cas de la UNAM-, ca te drá ti cos de di ver sas es cue las y fa cul ta des, fun cio na rios pú bli cos, pe rio dis tas, pro fe sio na les y re pre sen tan tes de or ga ni za cio nes no gu ber na men ta les o ins ti tu cio nes de la so cie dad ci vil que con cu rren en las áreas com pren di das por los fas cícu los, en fin, se ten ta y nue ve au to res, se gún in for ma José Luis So be ra nes Fer nán dez en la pre sen ta ción del con jun to (p. 8).
Uploads
Papers by Nory Dávalos