RESUMEN
El objetivo de la investigación es identificar los problemas epistemológicos que surgen en el conocimiento y praxis de la Bioética en contextos pluriculturales y multiétnicos como es la Sierra Sur de Oaxaca México, y determinar su relación con los derechos humanos específicamente con elEnfoque de salud basado en los Derechos Humanos (EBDH). El método es el realismo epistemológico pragmático de Jürgen Habermas. Los resultados muestran dos tipos de problemas: el primero, es el tipo derelación sujeto-objeto de conocimiento en el que el Otro es subjetivado comoobjeto einstrumentalizado; y el segundo, el reduccionismo metodológico y por tanto las formas de verificación de las proposiciones verdaderas. Por cuanto hace a los derechos humanos vinculados a los problemas epistemológicos son principalmente colectivos y secundariamente individuales,en tanto que el proceso de conocimiento es un fenómeno social, comunal e histórico. Concluimos que la pluriculturalidad es un fenómeno que complejiza y enriquece la labor de la Bioética con una realidad múltiple de tipo sensible, inteligible y valorativo, este nexo muestra la necesidad de desarrollar abordajes inter o transdisciplinarios que aminoren tanto los problemas epistemológicos como la incidencia en la violación de derechos humanos.(AU)
L'objectiu de la recerca és identificar els problemes epistemològics que sorgeixen en el coneixement i la praxi de la Bioètica en contextos pluriculturals i multiètnics com és la Serra Sud d'Oaxaca Mèxic, i determinar la seva relació amb els drets humans específicament amb l'Enfocament de salut basat en els Drets Humans (EBDH). El mètode és el realisme epistemològic pragmàtic de Jürgen Habermas. Els resultats mostren dos tipus de problemes: el primer és el tipus de relació subjecte-objecte de coneixement en què l'Altre és subjectivat com a objecte i instrumentalitzat; i el segon, el reduccionisme metodològic i, per tant, les formes de verificació de les proposicions veritables. Pel que fa alsdrets humans vinculats als problemes epistemològics, són principalment col·lectius i secundàriament individuals, en tant que el procés de coneixement és un fenomen social, comunal i històric. Concloem que la pluriculturalitat és un fenomen que complexitzai enriqueix la tasca de la Bioètica amb una realitat múltiple de tipus sensible, intel·ligible i valoratiu, aquest nexe mostra la necessitat de desenvolupar abordatges inter o transdisciplinaris que aminorin tant els problemes epistemològics com la incidència en la violació de drets humans.(AU)
The objective of the research is to identify the epistemological problems that arise in the knowledge and praxis of Bioethics in pluricultural and multiethnic contexts such as the Sierra Sur of Oaxaca, Mexico, and to determine their relationship with human rights, specifically with the Human Rights Based Health Approach (HRBA). The method is the pragmatic epistemological realism of Jürgen Habermas. The results show two types of problems: the first is the type of subject-object relationship of knowledge in which the Other is subjectivized as an object and instrumentalized; and the second is the methodological reductionism and therefore the forms of verification of true propositions. As far as human rights linked to epistemological problems are concerned, they are mainly collective and secondarily individual, while the process of knowledge is a social, communal and historical phenomenon. We conclude that pluriculturality is a phenomenon that complexifies and enriches the work of Bioethics with a multiple reality of sensitive, intelligible and valuative type, this nexus shows the need to develop inter or transdisciplinary approaches that lessen both epistemological problems and the incidence in the violation of human rights.(AU)
Asunto(s)
Humanos , Discusiones Bioéticas , Derechos Humanos , Conocimiento , Diversidad Cultural , Investigación , Bioética , MéxicoRESUMEN
Hass avocadoes are one of the most popular fruits consumed worldwide because of their nutritional and nutraceutical content. Nevertheless, these fruits are susceptible to phytopathogen attacks that decrease fruit quality during the postharvest period. Herein we present the results of the in situ fungistatic activity of four hybrid films (FT1−FT4) manufactured with chitosan and different concentrations of the essential oil of thyme (TvEO). The films were evaluated as biodegradable materials to prevent fruit decay triggered by Clonostachys rosea which is considered an emergent phytopathogen of this crop. The in situ fungistatic strength, spectroscopic properties (FT-IR), optical features (transmittance/opacity), and consistency obtained by microscopic analysis (SEM), indicated that the films FT3 and FT4 possessed the best physicochemical properties to protect Hass avocadoes against the soft rot produced by C. rosea. Avocadoes treated with the films FT3 and FT4 significantly (p < 0.01) conserved fruit firmness and nutritional composition (protein, fat, fiber, and reducing sugars) as well as the nutraceutical content (oleic, palmitoleic, linoleic, and palmitic acids) of infected avocados for 21 days. Our results validate the potential use of the films FT3 and FT4 to prevent the soft rot caused by C. rosea and to improve the shelf life of Hass avocadoes.
RESUMEN
INTRODUCTION: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean. OBJECTIVE: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes. METHODS AND MATERIAL: 255 adults of Chinantec Amerindian ethnic origin were included, who underwent anthropometric and biochemical evaluation. The VNTR was amplified by end-point PCR and by 8% PAGE electrophoresis. RESULTS: Differences were found in the waist/hip circumference index and body mass index in the carriers of genotypes different to the one homozygous for 22 repeats with a Student's t-test value of 0.0041 and 0.0334, respectively. We also found an association with a family history of chronic disease. CONCLUSION: The VNTR of ATXN2 is associated with obesity in Mexican adults of Chinantec ancestry.
Asunto(s)
Enfermedades Cardiovasculares , Adulto , Ataxina-2/genética , Factores de Riesgo de Enfermedad Cardiaca , Humanos , Obesidad/genética , Polimorfismo Genético , Factores de RiesgoRESUMEN
Hernandulcin (HE) is a non-caloric sweetener synthesized by the Mexican medicinal plant Phyla scaberrima. Herein we present the results of HE production through cell suspensions of P.â scaberrima as well as the influence of pH, temperature, biosynthetic precursors and potential elicitors to enhance HE accumulation. The incorporation of mevalonolactone (30-400â mg L-1 ) farnesol (30-400â mg L-1 ), AgNO3 (0.025-0.175â M), cellulase (5-60â mg L-1 ; 0.3â units/mg), chitin (20-140â mg L-1 ) and (+)-epi-α-bisabolol (300-210â mg L-1 ) to the cell suspensions, resulted in a differential accumulation of HE and biomass. Among elicitors assayed, chitin, cellulase and farnesol increased HE production from 93.2 to â¼160â mg L-1 but, (+)-epi-α-bisabolol (obtained by a synthetic biology approach) increased HE accumulation up to 182.7â mg L-1 . HE produced by the cell suspensions was evaluated against nine strains from six species of gastrointestinal bacteria revealing moderate antibacterial activity (MIC, 214-465â µg mL-1 ) against Staphylococcus aureus, Escherichia coli and Helicobacter pylori. Similarly, HE showed weak toxicity against Lactobacillus sp. and Bifidobacterium bifidum (>1â mg mL-1 ), suggesting a selective antimicrobial activity on some species of gut microbiota. According to our results, chitin and (+)-epi-α-bisabolol were the most effective molecules to enhance HE accumulation in cell suspensions of P.â scaberrima.
Asunto(s)
Antibacterianos/farmacología , Sesquiterpenos/farmacología , Verbenaceae/química , Antibacterianos/química , Antibacterianos/metabolismo , Bifidobacterium bifidum/efectos de los fármacos , Escherichia coli/efectos de los fármacos , Helicobacter pylori/efectos de los fármacos , Lactobacillus/efectos de los fármacos , Pruebas de Sensibilidad Microbiana , Sesquiterpenos/química , Sesquiterpenos/metabolismo , Staphylococcus aureus/efectos de los fármacos , Verbenaceae/citologíaRESUMEN
INTRODUCTION: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean. OBJECTIVE: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes. METHODS AND MATERIAL: 255 adults of Chinantec Amerindian ethnic origin were included, who underwent anthropometric and biochemical evaluation. The VNTR was amplified by end-point PCR and by 8% PAGE electrophoresis. RESULTS: Differences were found in the waist/hip circumference index and body mass index in the carriers of genotypes different to the one homozygous for 22 repeats with a Student's t test value of 0.0041 and 0.0334, respectively. We also found an association with a family history of chronic disease. CONCLUSION: The VNTR of ATXN2 is associated with obesity in Mexican adults of Chinantec ancestry.
RESUMEN
OBJECTIVE: To estimate the correlation between indices of diet quality (DQIs), insulin sensitivity (QUICKI) and resistance (HOMA-IR), waist circumference (WHR) and body mass (BMI) and the alleles and genotypes of the TJP1 SNP rs2291166 and the VNTR of ATXN2 in adolescent patients. SUBJECTS AND METHOD: The study enrolled 85 subjects aged 10-20years, from the city of Tuxtepec, Oaxaca, Mexico, recruited in the period 2017-2018. DQIs, BMI, WHR, HOMA-IR, QUICKI, and diet quality index were measured. The rs2291166 polymorphism in TJP1 was determined by allele-specific PCR and the (CAG)n expansion in ATXN2 was determined by hot start PCR. PCR products were analyzed using 8% PAGE electrophoresis and silver nitrate staining. RESULTS: A correlation was found of indices DQIs, HOMA-IR, WHR and BMI with the heterozygous genotype of the TJP1 SNP rs2291166 and the long and short repeats of the ATXN2 CAG repeat in obese adolescent patients. A very strong positive correlation was seen between the TJP1 SNP and the HOMA-IR index (P<.05). A positive correlation was also found between the ATXN2 CAG repeat and the QUICKI index (P=.000) (P<.05), while the DQIs index correlated more closely with BMI and WHR. CONCLUSIONS: DQIs, TJP1 SNP rs2291166, and ATXN2 CAG repeat are determinants of obesity-related risk parameters such as BMI, WHR, QUICKI, and HOMA-IR in the adolescent population analyzed.
RESUMEN
The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky. The mother aged 27 years-old presented progressive cerebellar ataxia, dysarthria, dysmetria, dysdiadochokinesis, limb ataxia and olivopontocerebellar atrophy. The molecular analysis was made by identifying the expansion repeats in tandem by long PCR to analyze the repeats in the ATXN2 gene. We found an extreme CAG expansion repeats of ~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon.
RESUMEN
FUNDAMENTOS: En la etapa lactante los patrones de consumo alimentario (PCA) adecuados pueden mantener el correcto estado nutricional. La presente investigación buscó asociar el PCA durante la alimentación complementaria con el estado nutricional en lactantes. MÉTODOS:Se realizó un estudio transversal analítico (mayo-julio de 2017) con población lactante (n=35, femeninos 60% y masculinos 40%) de 4 a 12 meses de edad del municipio de Santo Domingo, Oaxaca. Se evaluó el estado nutricional con indicadores (Peso/Edad, Peso/Longitud y Longitud/Edad), así como se realizó valoración dietética aplicada a las madres o cuidadoras. RESULTADOS: El 68,57% de los lactantes presentaron un estado de nutrición normal. Se encontró una asociación significativa entre el adecuado estado de nutrición y el consumo de verduras, cereales sin grasa, alimentos de origen animal, leche, aceites sin proteína y con proteína. La asociación del estado de nutrición con el PCA no fue significativa (p=0,501). CONCLUSIONES: Se encontró una asociación significativa entre el adecuado estado de nutrición y el consumo de ciertos alimentos. El balance energético positivo de los lactantes es un factor que conduce a un sesgo de información, ya que el PCA inadecuado en esta etapa y la ingesta elevada de calorías incrementa el peso corporal
BACKGROUND: In the lactating stage, adequate dietary consumption patterns (PCA) can maintain the correct nutritional status. The present investigation seeks to associate the PCA during complementary feeding with the nutritional status in infants. METHODS: An analytical cross-sectional study was included (May-July 2017) with a lactating population (n=35, 60% female and 40% male) from 4 to 12 months of age born from the Santo Domingo, Oaxaca. The nutritional status was evaluated with indicators (Weight/Age, Weight/Length and Length/Age), as well as dietary assessment applied to mothers or caregivers. RESULTS: 68.57% of infants had a normal nutritional status. A significant association was found between the proper state of nutrition and the consumptionof vegetables, non-fat cereals, foods of animal origin, milk, oils without protein and with protein. The association of the nutritional status with the PCA was not significant (p = 0.501). CONCLUSIONS: A significant association was found between the proper state of nutrition and the consumption of certain foods. The positive energy balance of infants is a factor that leads to information bias, since inadequate PCA at this stage and high calorie intake increases body weight
Asunto(s)
Humanos , Masculino , Femenino , Lactante , Nutrición del Lactante , Alimentos Infantiles/clasificación , Necesidades Nutricionales/fisiología , Ingesta Diaria Recomendada/tendencias , Trastornos de la Nutrición del Lactante/prevención & control , México/epidemiología , Alimentos Fortificados/análisis , Tamaño de la Porción de Referencia/estadística & datos numéricos , Evaluación Nutricional , Estado Nutricional/fisiología , Trastornos de la Nutrición del Lactante/epidemiologíaRESUMEN
The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.
El gen SOD1 es el primer gen responsable mapeado en la esclerosis lateral amiotrófica tipo 1 (ELA1) y codifica para la enzima superóxido dismutasa tipo 1 (SOD1), cuya función es proteger del daño mediado de los radicales libres derivados del oxígeno; su mecanismo fisiopatológico en ELA1 se relaciona con isquemia. Diversos estudios moleculares del gen SOD1 muestran que las mutaciones puntuales son las más frecuentes. Las mutaciones más comunes en los casos familiares son p.A4V, p.I113Y, p.G37R, p.D90A y p.E100G, que explican más de 80 % de los casos, aunque también se han descrito mutaciones intrónicas como responsables de esclerosis lateral amiotrófica tipo 1. Los casos esporádicos se explican por mutaciones en otros genes como SETX y C9orf72. ELA1 es una enfermedad compleja con heterogeneidad genética. Por otra parte, los casos familiares y esporádicos tienen etiología distinta, lo cual se explica por la heterogeneidad molecular y múltiples mecanismos patogénicos que conducen a ELA1; el estrés oxidativo y la isquemia no son la única causa. En México son escasos los estudios de genética molecular de esclerosis lateral amiotrófica. Los estudios clínicos muestran incremento de citocinas como la adipsina en el líquido cefalorraquídeo.
Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Superóxido Dismutasa-1/genética , Proteína C9orf72/genética , ADN Helicasas/genética , Genotipo , Humanos , Intrones/genética , Isquemia/complicaciones , Enzimas Multifuncionales/genética , Fenotipo , Mutación Puntual , ARN Helicasas/genética , Especies Reactivas de Oxígeno , Superóxido Dismutasa-1/fisiologíaRESUMEN
The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.
Asunto(s)
Humanos , Superóxido Dismutasa-1/genética , Esclerosis Amiotrófica Lateral/genética , Mutación Puntual , Edad de Inicio , Estrés Oxidativo , Esclerosis Amiotrófica Lateral/enzimología , Isquemia/complicaciones , MéxicoRESUMEN
BACKGROUND: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino). CLINICAL CASE: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported. CONCLUSIONS: therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.
INTRODUCCIÓN: La acondrogénesis es una displasia esquelética que se caracteriza principalmente por talla baja, micromelia grave, tórax corto y estrecho, prematurez, polihidramnios, hidropesía fetal y muerte fetal in utero o neonatal. Según los hallazgos radiológicos e histopatológicos existen tres tipos de acondrogénesis: tipo 1A (Houston-Harris), tipo 1B (Fraccaro) y tipo 2 (Langer-Saldino). CASO CLÍNICO: Se sometió a estudio a un producto femenino prematuro cuyas características clínicas, radiológicas e histopatológicas fueron compatibles con acondrogénesis tipo 1A. La información familiar permitió concluir que los cuatro productos de los seis embarazos previos se encontraban afectados. El análisis estadístico en por lo menos cuatro familias previamente descritas, incluyendo este caso familiar, mostró diferencias significativas entre el número de miembros esperado y el observado, siendo incongruente con el modo de herencia autosómico recesivo previamente reportado. CONCLUSIONES: Podría considerarse un nuevo subtipo de acondrogénesis tipo 1A debida a la presencia de una mutación germinal preferencial.
Asunto(s)
Acondroplasia/genética , Acondroplasia/clasificación , Femenino , Mutación de Línea Germinal , Humanos , Recién Nacido , Linaje , FenotipoRESUMEN
El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios. En conclusión, el gen puede ser utilizado como marcador clínico de fenotipos metabólicos y neurológicos, lo cual está relacionado con su efecto pleiotrópico.
The ataxin 2 gene is a target in the pathogenesis of complex diseases, including cardiovascular risk factors and neurodegenerative diseases. ATXN2 gen has VNTR in exon 1, whose expansion exceeding 30 repetitions leads to the development of spinocerebellar ataxia type 2; lower-range repetitions are associated with type 2 diabetes or amyotrophic lateral sclerosis. This locus is also linked with metabolic and inflammatory phenotypes. In conclusion, this gene can be used as a clinical marker of metabolic and neurological phenotypes, which is related to its pleiotropic effect.
Asunto(s)
Ataxina-2/genética , Enfermedades Cardiovasculares/genética , Enfermedades Neurodegenerativas/genética , Biomarcadores/metabolismo , Enfermedades Cardiovasculares/fisiopatología , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/fisiopatología , Humanos , Enfermedades Neurodegenerativas/fisiopatologíaRESUMEN
Resumen El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios. En conclusión, el gen puede ser utilizado como marcador clínico de fenotipos metabólicos y neurológicos, lo cual está relacionado con su efecto pleiotrópico.
Abstract The ataxin 2 gene is a target in the pathogenesis of complex diseases, including cardiovascular risk factors and neurodegenerative diseases. ATXN2 gen has VNTR in exon 1, whose expansion exceeding 30 repetitions leads to the development of spinocerebellar ataxia type 2; lower-range repetitions are associated with type 2 diabetes or amyotrophic lateral sclerosis. This locus is also linked with metabolic and inflammatory phenotypes. In conclusion, this gene can be used as a clinical marker of metabolic and neurological phenotypes, which is related to its pleiotropic effect.
Asunto(s)
Humanos , Enfermedades Cardiovasculares/genética , Enfermedades Neurodegenerativas/genética , Ataxina-2/genética , Biomarcadores/metabolismo , Enfermedades Cardiovasculares/fisiopatología , Enfermedades Neurodegenerativas/fisiopatología , Diabetes Mellitus Tipo 2/fisiopatología , Diabetes Mellitus Tipo 2/genéticaRESUMEN
The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.
Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Superóxido Dismutasa-1/genética , Edad de Inicio , Esclerosis Amiotrófica Lateral/enzimología , Humanos , Isquemia/complicaciones , México , Estrés Oxidativo , Mutación PuntualRESUMEN
Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino). Clinical case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported. Conclusions: therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.
Introducción: La acondrogénesis es una displasia esquelética que se caracteriza principalmente por talla baja, micromelia grave, tórax corto y estrecho, prematurez, polihidramnios, hidropesía fetal y muerte fetal in utero o neonatal. Según los hallazgos radiológicos e histopatológicos existen tres tipos de acondrogénesis: tipo 1A (Houston-Harris), tipo 1B (Fraccaro) y tipo 2 (Langer-Saldino). Caso clínico: Se sometió a estudio a un producto femenino prematuro cuyas características clínicas, radiológicas e histopatológicas fueron compatibles con acondrogénesis tipo 1A. La información familiar permitió concluir que los cuatro productos de los seis embarazos previos se encontraban afectados. El análisis estadístico en por lo menos cuatro familias previamente descritas, incluyendo este caso familiar, mostró diferencias significativas entre el número de miembros esperado y el observado, siendo incongruente con el modo de herencia autosómico recesivo previamente reportado. Conclusiones: Podría considerarse un nuevo subtipo de acondrogénesis tipo 1A debida a la presencia de una mutación germinal preferencial.