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1.
Acta sci., Health sci ; 44: e54648, Jan. 14, 2022.
Article in English | LILACS | ID: biblio-1363590

ABSTRACT

Healthcare services must be guided by biosafety practices and microbial control. This control is highly influenced by humidity, which directly impacts the maintenance of sterility of the materials used in the appointments. High concentration of moisture, in the form of aerosol, splashes and spills, is caused during dental care. During the COVID-19 times the contamination by aerosol and droplets worries greatly. Considering that it could cause harm to the sterility of an autoclaved material, especially in dental environments, the objective was to evaluate the behavior of SMS sterilization packages (Spunbonded / Meltblown / Spunbonded) against microbial penetration in an aqueous vehicle. SMS of three brands were challenged, equally divided into two groups: virgin and processed (subjected to a single autoclaving cycle). Each specimen was aseptically deposited on Macconkey agar. Subsequently, 5 µL of Escherichia coliATCC 25922 saline solution [108CFU mL-1] was deposited in center of the SMS specimen and the dish incubated at36°C/ 48h. Reading was performed by the presence or absence of bacterial growth typical of the species under the SMS, observed on the back of Petri dish. The lowest penetration rate observed was 60% for one of the brands in the virgin condition, and 75% for two brands in the processed condition. Statistical analysis showed an association between bacterial penetration and the evaluated group, this association being valid only in the virgin condition. The different SMS behave similarly in terms of resistance to bacterial penetration after being processed. The data show that moisture can assist in bacterial transport through sterilized SMS. Therefore, SMS packages are not able to prevent bacterial penetration, and possibly other microorganisms, when in aqueous vehicles, offering a potential risk of breaking the aseptic chain. Thus, care must be taken in routines for handling and storage sterile packaging.


Subject(s)
Product Packaging/instrumentation , Containment of Biohazards/instrumentation , Dental Offices/organization & administration , Humidity/prevention & control , Sterilization/instrumentation , Infection Control/instrumentation , Evaluation Study , Drug Packaging/instrumentation , Saline Solution/analysis , COVID-19/prevention & control , Microbiological Phenomena/immunology
2.
FAVE, Secc. Cienc. vet. (En línea) ; 20(2): 91-96, jul. 2021. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1375467

ABSTRACT

Resumen La leptospirosis continúa siendo hoy en día un problema para la salud pública, principalmente en poblaciones de bajos recursos socioeconómicos. En este trabajo se presenta la detección de leptospiras patógenas en muestras ambientales (aguas y barros) provenientes de regiones del norte argentino (provincias de Formosa, Salta, Santiago del Estero, Misiones y Chaco) con variadas características climatológicas habitadas por poblaciones vulnerables. De las 89 muestras analizadas, en el 24,7% fue posible detectar molecularmente la presencia de leptospiras patógenas. La prevalencia por tipo de muestra fue de 27,8% para las aguas y 11,8% para los barros. Todas las localidades muestreadas presentaron al menos una muestra positiva a alguna de las pruebas realizadas, por lo que el presente trabajo refleja la necesidad de profundizar los estudios de la leptospirosis en distintas regiones de la Argentina.


Abstract Leptospirosis remains as a major public health problem nowadays, mainly affecting vulnerable communities with low socioeconomic resources. In this study, the molecular detection of pathogenic leptospires from environmental samples (water and mud) from northern Argentina (Formosa, Salta, Santiago del Estero, Misiones and Chaco provinces) is described. Samples were obtained from regions with varied climatological features, all inhabited by vulnerable communities. From the 89 samples that were analyzed, 24.7% showed molecular evidence of the presence of pathogenic leptospires. Prevalence by sample type was: 27.8% in water samples and 11.8% in mud samples. All the sampled regions showed at least one positive sample. This result highlights the need of further research regarding leptospirosis in different regions of Argentina.

3.
RFO UPF ; 24(3): 460-468, 2019. tab
Article in Portuguese | BBO, LILACS | ID: biblio-1357704

ABSTRACT

Objetivo: realizar uma revisão de literatura sobre os tipos de tratamento empregados na correção da mordida aberta anterior. Materiais e métodos: foi realizada uma busca nas bases de dados PubMed, SciELO e Google Acadêmico. Os termos inseridos na pesquisa foram: Mordida Aberta; Ortodontia Corretiva; Ortodontia; Ortodontia Interceptora; Open Bite; Orthodontics, Corrective; Orthodontics; Orthodontics, Interceptive. Revisão da Literatura: a mordida aberta anterior (MAA) é uma má oclusão dentária que pode promover alteração do perfil e da fisionomia do indivíduo, dificultando também a apreensão e o corte dos alimentos. A MAA é uma das más oclusões de maior comprometimento estético-funcional, podendo ser dentária ou esquelética. A etiologia da mordida aberta anterior é multifatorial, sendo que as principais causas são hereditariedade e causas ambientais. Esses fatores interferem no crescimento e desenvolvimento normais das estruturas faciais, modificando não somente a morfologia, mas, também, a função do sistema estomatognático. Considerações finais: conclui-se que o diagnóstico precoce e a remoção do fator etiológico são fundamentais para a evolução adequada do tratamento ortodôntico.(AU)


Objective: to perform a literature review on the types of treatment used in anterior open bite correction. Materials and methods: a search was performed in the PubMed, SciELO, and Google Scholar databases. The terms entered in the search were Mordida Aberta; Ortodontia Corretiva; Ortodontia; Ortodontia Interceptora; Open Bite; Orthodontics, Corrective; Orthodontics; Orthodontics, Interceptive. Literature Review: anterior open bite (AOB) is a dental malocclusion that may change the profile and physiognomy of individuals, making it difficult to grasp and cut food. The AOB is one of the malocclusions with the most aesthetic and functional impairments, and it may be dental or skeletal. The etiology of anterior open bite is multifactorial and the main causes are heredity and environmental causes. These factors interfere with the normal growth and development of facial structures, modifying not only the morphology but also the function of the stomatognathic system. Final considerations: it is concluded that the early diagnosis and removal of the etiological factor are essential for the proper evolution of the orthodontic treatment.(AU)


Subject(s)
Humans , Orthodontics, Corrective/methods , Orthodontics, Interceptive/methods , Open Bite/therapy , Treatment Outcome , Open Bite/etiology
4.
Arq. bras. med. vet. zootec. (Online) ; 70(2): 419-428, mar.-abr. 2018. graf, tab
Article in English | LILACS, VETINDEX | ID: biblio-910397

ABSTRACT

The aim of this study was to evaluate the effect of supplementation with different concentrations of reduced glutathione GSH (0; 5; 7.5; 10mM) in the extender for cryopreservation in dogs with evaluations performed after glycerolization (chilled) and thawing (thawed). For this purpose, we used 8 dogs and two semen collections were performed in a weekly interval, totaling 16 semen samples. The sperm were analyzed by automatic sperm motility (CASA) and flow cytometry analysis of mitochondrial potential (JC1 dye) and membrane/acrosome integrity (FITC-PI dyes). We evaluated subjectively the membrane and acrosome integrity, mitochondrial activity and DNA integrity. Seminal plasma was evaluated for lipid peroxidation (TBARS concentration). Chilled and thawed samples supplemented with 7.5 and 10mM of GSH had lower percentage of sperm with high (DAB - Class I) and medium (DAB - Class II) mitochondrial activity. And 10mM of GSH had higher percentage of low mitochondrial activity (DAB - Class III). Moreover, thawed samples of 10mM of GSH had high DNA fragmentation rates. Probably by a reductive stress effect on mitochondria which lead to an increase in reactive oxygen species, and a mitochondrial malfunction.(AU)


O objetivo deste estudo foi avaliar o efeito da suplementação com diferentes concentrações de glutationa reduzida (GSH - 0; 5; 7,5; 10mM) para criopreservação em cães com avaliações realizadas após glicerolização (refrigeração) e descongelação. Para tal, foram utilizados oito cães e foram realizadas duas coletas de sêmen em intervalo semanal, totalizando 16 amostras de sêmen. Foram avaliadas a motilidade espermática computadorizada (CASA) e a análise de citometria de fluxo do potencial mitocondrial (sonda JC-1) e integridade da membrana/acrossomal (sonda FITC-PI). Subjetivamente foi avaliada a integridade da membrana plasmática e do acrossomal, atividade mitocondrial e integridade do DNA. O plasma seminal foi avaliado quanto à peroxidação lipídica (concentração de TBARS). As amostras refrigeradas e descongeladas suplementadas com 7,5 e 10mM de GSH apresentaram menor porcentagem de espermatozoides com alta atividade mitocondrial (DAB - Classe I) e média (DAB - Classe II). Na concentração de 10mM de GSH, apresentaram maior porcentagem de baixa atividade mitocondrial (DAB - Classe III). Além disso, amostras descongeladas de 10mM de GSH apresentaram taxas de fragmentação de DNA elevadas, provavelmente por efeito de estresse redutivo sobre as mitocôndrias que elevam as espécies reativas de oxigênio e disfunção mitocondrial.(AU)


Subject(s)
Animals , Male , Dogs , Cryopreservation/methods , Glutathione/administration & dosage , Reactive Oxygen Species/administration & dosage , Antioxidants
5.
Rev. guatemalteca cir ; 21(1): 54-59, 2015. ilus
Article in Spanish | LILACS | ID: biblio-869923

ABSTRACT

La fistula del muñón bronquial es una seria complicación de la neumonectomía, por su complejidad tanto en los cambios anatomofisiológicos que el paciente experimenta, como en la diversidad de recursos para su resolución. El objetivo de este estudio es la presentación de este primer caso en la historia quirúrgica del país de abordaje transesternal, transpericárdico para el cierre de la fístula del muñón bronquial post neumonectomía en el Hospital San Vicente en Guatemala. Método: Se presenta el caso de una paciente de sexo femenino a quien se le realizó neumonectomía derecha por tuberculosis pulmonar y que presentó dehiscencia del muñón bronquial por lo que se procedió a realizar abordaje transesternal transpericárdico para el cierre del muñón bronquial a nivel de la Carina. Resultados: Se da seguimiento a la paciente por 8 años tras los cuales el problema se considera resuelto. Conclusión: la utilización del abordaje transesternal, transpericárdico para el cierre de la fístula del muñón bronquial postneumonectomía permite alcanzar el bronquio en un ambiente no contaminado debiendo considerarse como un procedimiento adecuado para resolver este tipo de complicación.


Background: Bronchial stump fstula is a serious complicaton of pneumonectomy. The aim of this case report is to document the frst surgical patenttreated with trans-sternal, trans-pericardial approach for bronchial stump fstula closing afer pneumonectomy at San Vicente Hospital in Guatemala.Methods: A female patent who underwent right pneumonectomy for pulmonary tuberculosis with postoperatve bronchial stump dehiscence.Trans-sternal trans-pericardial approach was performed for closing the bronchial stump fstula at the carina.Results: Afer 8 years of follow up, the problem in the patent had completely resolved.Conclusion: Trans-pericardial trans-sternal approach for bronchial stump fstula closing allows bronchium access in a non-contaminated space andshould be considered to resolve this kind of complicaton.


Subject(s)
Humans , Female , Bronchial Fistula/complications , Pneumonectomy/adverse effects , Tuberculosis, Pulmonary/surgery
6.
Rev. chil. obstet. ginecol ; 80(1): 48-54, 2015. tab
Article in Spanish | LILACS | ID: lil-743834

ABSTRACT

ANTECEDENTES: Las gestaciones en pacientes con daño medular representan un reto para la obstetricia. Las complicaciones más frecuentes son las infecciones de las vías respiratorias y de las vías urinarias, y la más grave la hiperreflexia autonómica. El parto vaginal es posible en lesiones por debajo de T5, pero por encima de ese nivel, la imposibilidad de percibir las contracciones, de identificar el trabajo de parto y realizar pujos lleva a la necesidad de una cesárea programada. OBJETIVO: Exponer nuestra experiencia y revisar el manejo más adecuado de la embarazada parapléjica. MÉTODOS: Estudio retrospectivo en el periodo 2003-2014. Hubo 10 pacientes con 24 gestaciones: 6 abortos espontáneos, un 1 aborto inducido, quedando para el análisis 17 gestaciones (1 embarazo gemelar). La evaluación es independiente a la etiología o localización de la lesión. Se analiza las complicaciones perinatales y maternas. Resultados: La edad media fue 33 años. La edad gestacional media al parto fue 37 semanas: 12 de término (70,59%), 4 de pretérmino (23,53%) y una desconocida (5,88%). Hubo 10 cesáreas (58,82%) y 7 partos vaginales (41,18%). Peso medio neonatal de 2940 g, ninguno con retraso de crecimiento intrauterino. CONCLUSIONES: Nuestra experiencia muestra una alta tasa de prematuridad y de cesáreas, pero con buenos resultados maternos y perinatales, que hace permisible que estas pacientes puedan cumplir su deseo genésico, superando su discapacidad.


BACKGROUND: The pregnancies in patients with spinal cord injury represent a challenge for obstetrics. The most common complications are infections of the respiratory and urinary tract, and the most severe is the autonomic hyperreflexia. Vaginal delivery is possible in lesions below T5, but above that level the inability to perceive contractions, to identify labor and perform straining leads to the need for a scheduled cesarean. OBJECTIVE: To describe our experience and review the most appropriate management of paraplegic pregnant. Methods: Retrospective study in the period 2003-2014. There were 10 patients with 24 pregnancies: 6 spontaneous abortions, 1 induced abortion, leaving 17 for analysis pregnancies (one twin pregnancy). The evaluation is independent of the etiology or location of the lesion. Perinatal and maternal complications were analyzed. RESULTS: The mean age was 33 years. The mean gestational age at delivery was 37 weeks: 12 to term (70.59%), 4 preterm deliveries (23.53%) and one unknow. There were 10 cesarean sections (58.82%) and 7 vaginal deliveries (41.18%). Average birth weight of 2940 g, none with intrauterine growth restriction. CONCLUSIONS: Our experience shows a high rate of prematurity and cesarean section, but with good maternal and perinatal outcomes, which makes it permissible for these patients can fulfill their procreative desire, overcoming his disability.


Subject(s)
Humans , Female , Pregnancy , Adult , Young Adult , Paraplegia/complications , Pregnancy Complications/etiology , Pregnancy Complications/therapy , Spinal Cord Injuries/complications , Pregnancy Complications/epidemiology , Respiratory Tract Infections/epidemiology , Urinary Tract Infections/epidemiology , Pregnancy Outcome , Cesarean Section , Retrospective Studies , Obstetric Labor Complications , Obstetric Labor, Premature
7.
Braz. j. med. biol. res ; 42(10): 979-987, Oct. 2009. ilus, tab
Article in English | LILACS | ID: lil-526181

ABSTRACT

Our objective was to determine the presence of vascular endothelial growth factor (VEGF), matrix metalloproteinase-2 (MMP-2) and MMP-9 and specific tissue inhibitors of matrix metalloproteinase (TIMP-1 and TIMP-2) in tumor samples obtained from patients with primary breast cancer. We attempted to correlate these findings with the status of the sentinel lymph node (SLN) and clinical-pathological characteristics such as age, tumor size, histological type, histological grade, and vascular invasion. Tumor samples from 88 patients with primary breast cancer were analyzed. The immunoreactivity of VEGF, MMP-2, MMP-9, TIMP-1, and TIMP-2 in tumors was correlated with clinical and pathological features, as well as SLN status. Nonparametric, Mann-Whittney, Kruskal-Wallis, and Spearmann tests were used. Categorical variables were analyzed by the Pearson test. No statistically significant correlation was found between the amount of VEGF, MMP-2, MMP-9, TIMP-1, and TIMP-2 and the presence of tumor cells in the SLN. However, larger tumor diameter (P < 0.01) and the presence of vascular invasion (P < 0.01) were correlated positively with a positive SLN. A significant correlation of higher VEGF levels (P = 0.04) and lower TIMP-1 levels (P = 0.04) with ductal histology was also observed. Furthermore, lower TIMP-2 levels showed a statistically significant correlation with younger age (<50 years) and larger tumor diameter (2.0-5.0 cm). A positive SLN correlated significantly with a larger tumor diameter and the presence of vascular invasion. Higher VEGF and lower TIMP-1 levels were observed in patients with ductal tumors, while higher TIMP-1 levels were observed in lobular tumors.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Middle Aged , Breast Neoplasms/metabolism , Matrix Metalloproteinase 9/metabolism , /metabolism , Tissue Inhibitor of Metalloproteinase-1/metabolism , /metabolism , Vascular Endothelial Growth Factor A/metabolism , Breast Neoplasms/pathology , Immunohistochemistry , Neoplasm Staging , Sentinel Lymph Node Biopsy
8.
Rev. argent. transfus ; 34(1/2): 87-90, 2008. tab
Article in Spanish | LILACS | ID: lil-534128

ABSTRACT

La etiopatogenia de la enfermedad hemolítica del recién nacido está basada en la incompatibilidad de grupo sanguíneo entre la madre y el recién nacido. Los neonatos con enfermedad hemolítica por incompatibilidad ABO usualmente tienen madres de grupo O porque la IgG anti-A y anti-B puede atravesar la placenta y sensibilizar los eritrocitos neonatales. Otros anticuerpos además de los ABO han sido reportados como causa de enfermedad hemolítica del recién nacido, ejemplo: anti-D, anti-C, anti-K, anti-Jk, anti-Fy, anti-S, etc. Presentamos el caso de una mujer de 33 años de edad, que en el segundo trimestre de su segunda gestación presentó una hemorragia que motivó la transfusión de una unidad de concentrado de eritrocitos. No se reportó reacción transfusional. El producto de dicha gestación fue un neonato masculino de 2,5 Kg de peso y apgar 6-8 que presentó íctero a las 24 horas después del parto. El fenotipaje ABO de los eritrocitos maternos y del neonato arrojó que la madre era de grupo O y el neonato de grupo B. La prueba de Coombs directa fue positiva 2+ en el neonato y la prueba de Coombs indirecta resultó positiva 3+ en la madre. Dos aloanticuerpos fueron detectados en el suero materno como causa del íctero neonatal, un anti-A y un anti-Jk b. Los eritrocitos maternos fueron fenotipados como Jk b negativos. El tratamiento con fototerapia al neonato se inició a las 40 horas de edad y se prolongó hasta los 10 días de nacido. Una transfusión simple de concentrado de eritrocitos fenotipados fue administrada al neonato a los 8 días de edad.


Subject(s)
Humans , Female , Pregnancy , Adult , Erythroblastosis, Fetal/etiology , Histocompatibility, Maternal-Fetal/immunology , Jaundice, Neonatal/diagnosis , Jaundice, Neonatal/immunology , Jaundice, Neonatal/therapy , Blood Group Incompatibility , Isoantibodies , Rh Isoimmunization , Coombs Test , ABO Blood-Group System/immunology
9.
ACM arq. catarin. med ; 32(supl.1): 276-281, out. 2003. ilus, graf
Article in Spanish | LILACS | ID: lil-517789

ABSTRACT

As reconstruções de defeitos de mucosa, nas regiões da cabeça e pescoço e região vaginal, assim como as lesões em mão e membros inferiores secun- dárias à ressecção de tumores, traumas e infecções, entre outros, constituem um desafio para o cirurgião plástico. Em 1990, Mixter descreveu a utilização do retalho composto fascioperitoneal, baseado no ramo perfurante peritoneal da artéria epigástrica inferior profunda (AEIP). Este retalho pode ser dissecado junto com o músculo reto abdominal e/ou associado a uma ilha de pele. O peritônio tem grande capacidade de metaplasia escamosa e é resistente à exposição à secreções gástricas e radiação. Foi realizado um estudo anatômico em 17 cadáveres, totalizando 34 regiões anatômicas, com os objetivos de determinar os parâmetros de dissecção deste retalho e o território vascular anatômico do ramo peritoneal da AEIP. Assim mesmo, foi realizado o estudo morfométrico do vaso. O retalho peritoneal da AEIP possui um pedículo vascular constante, de localização anatômica relativamente fixa, com um bom arco de rotação, e pode ser dissecado em dimensões que permitem a cobertura de defeitos de mediano e grande porte.


The reconstruction of mucosal defects in the regions of head and neck, and vaginal region, and secondary hand and lower limb defects after tumor resection, trauma and infections, among others, represent a challenge for the plastic surgeon. In 1990, Mixter described the use of the composed fascioperitoneal flap, based in the peritoneal branch of the deep inferior epigastric artery (DIEA). This flap can be dissected together with the rectus abdominis muscle and/or associate to a skin island. Peritoneum has great capacity of squamous metaplasia and is resistant to gastric secretions and radiation exposure. An anatomical study in 17 cadavers was carried through, totalizing 34 anatomical regions, with the objective to determine the dissection parameters of this flap and the anatomical vascular territory of the DIEA peritoneal branch. A morphometric study of the vessels was also done. The peritoneal branch of the DIEA has one constant vascular pedicle, with relatively permanent anatomical localization, with a good arc of rotation, and can be dissected in dimensions that allow coverage of medium and great size defects.


Subject(s)
Humans , Gastric Mucosa , Gastric Mucosa/anatomy & histology , Gastric Mucosa/surgery , Gastric Mucosa/injuries , Gastric Mucosa/metabolism
10.
Braz. j. med. biol. res ; 36(8): 1015-1025, Aug. 2003. ilus, tab, graf
Article in English | LILACS | ID: lil-340796

ABSTRACT

Cell migration is a crucial event in the general process of thymocyte differentiation. The cellular interactions involved in the control of this migration are beginning to be defined. At least chemokines and extracellular matrix proteins appear to be part of the game. Cells of the thymic microenvironment produce these two groups of molecules, whereas developing thymocytes express the corresponding receptors. Moreover, although chemokines and extracellular matrix can drive thymocyte migration per se, a combined role for these molecules appears to contribute to the resulting migration patterns of thymocytes in their various stages of differentiation. The dynamics of chemokine and extracellular matrix production and degradation is not yet well understood. However, matrix metalloproteinases are likely to play a role in the breakdown of intrathymic extracellular matrix contents. Thus, the physiological migration of thymocytes should be envisioned as a resulting vector of multiple, simultaneous and/or sequential stimuli involving chemokines, adhesive and de-adhesive extracellular matrix proteins, as well as matrix metalloproteinases. Accordingly, it is conceivable that any pathological change in any of these loops may result in the alteration of normal thymocyte migration. This seems to be the case in murine infection by the protozoan parasite Trypanosoma cruzi, the causative agent of Chagas' disease. A better knowledge of the physiological mechanisms governing thymocyte migration will provide new clues for designing therapeutic strategies targeting developing T cells


Subject(s)
Animals , Cell Movement , Chemokines , Extracellular Matrix , Integrins , T-Lymphocytes , Thymus Gland , Cell Adhesion , Cell Communication , Cell Differentiation , Thymus Gland
11.
Mem. Inst. Oswaldo Cruz ; 87(supl.3): 193-9, 1992. tab, ilus
Article in English | LILACS | ID: lil-121101

ABSTRACT

The diagnosis of tick-borne diseases such as babesiosis still depends on observing the parasite in the infected erythrocyte. Microscopic observation is tedious and often problematic in both early and carrier infections. Better diagnostic methods are needed to prevent clinical disease, especially when susceptible cattle are being moved into disease enzootic areas. This study evaluates two techniques for early diagnosis of Babesia bovis infections in cattle, DNA probes specific for the organism and fluorescent probes specific nucleic acid. The radioisotopically labeled DNA probes are used in slot blot hybridizations whith lysed blood samples, not purified DNA. Thusfar, the probe is specific for B. bovis and can detect as few as 1000 B. bovis parasites in 10*l of blood. The specificity of the fluorescent probe depends on the characteristic morphology of the babesia in whole blood samples, as determined microscopically. The fluorescent probe detects as afew as 10,000 B. bovis parasites in 10*l as blood. The application of each method for alboratory and field use is discussed


Subject(s)
Cattle , Babesiosis/diagnosis , Bone Diseases , DNA , Fluorescent Dyes
12.
Arch. invest. méd ; 21(2): 127-32, abr.-jun. 1990. ilus, tab
Article in Spanish | LILACS | ID: lil-177274

ABSTRACT

Se estudiaron 133 pacientes con cataratas congénitas o idiopáticas (94 pacientes con edades entre 1 mes y 14 años, 10 pacientes con edades entre 16 y 50 años y en 29 pacientes no se registró la edad) y 18 pacientes con diagnóstico clínico de galactosemia clásica. Se cuantificaron las actividades de la galactokinasa (GALK) y de la uridil transferasa de la galactosa 1-fosfato (GALT) eritrocitarias. No se identificaron individuos con deficiencia total de GALK o GALT. En el grupo de pacientes con cataratas con edades entre 1 mes y 14 años, 3 (3.19//) y 4 (4.25//) mostraron niveles de GALK y GALT en el rango correspondiente a los heterocigotos respectivamente. En comparación con la incidencia esperada de heterocigotos en la población general (0.2 por ciento para GALK y 0.8 por ciento para GALT) encontramos un incremento significativo de individuos con niveles reducidos de enzimas del metabolismo de la galactosa. Se discute la posibilidad de que los estados galactosémicos heterocigotos constituyen un factor de riesgo para el desarrollo de cataratas y sus implicaciones terapéuticas


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Cataract/etiology , Galactose/metabolism , Metabolism, Inborn Errors/complications
17.
Bol. méd. Hosp. Infant. Méx ; 39(4): 291-6, 1982.
Article in Spanish | LILACS | ID: lil-9489

ABSTRACT

Se estudiaron dos hermanos con datos clinicos y radiologicos tipicos del sindrome faciodigitogenital (Aarskog-Scott). El estudio radiologico confirmo los datos clinicos y revelo otros no descritos como componentes habituales del padecimiento: huesos pelvicos con disminucion del diametro cefalocaudal, huesos largos acortados y osteoporoticos,canal medular amplio,primer dedo de manos y pies corto y ensanchado asi como disrritmia de la osificacion.El hecho de que estos hallazgos se encuentren presentes en ambos hermanos, sugiere que forman parte del sindrome. El analisis del arbol genealogico apoya un patron de herencia compatible con la forma recesiva ligada al X con expresion limitada en las mujeres heterocigotas. Esta es la primera familia mexicana reportada con este sindrome


Subject(s)
Child , Humans , Male , Abnormalities, Multiple
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