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R Isaza

Publications and source records attributed to R Isaza.

27 records · Page 2Linked to original sources

[Comparison of the multifactorial model as a hereditary mechanism of non-myoclonic generalized idiopathic epilepsy and partial idiopathic epilepsy].

OBJECTIVE AND METHODS: An experimental study about the predictions from the multifactorial threshold model created by Falconer is presented, assuming that this model may explain the genetic mechanisms underlying the family aggregation of idiopathic epilepsies. RESULTS: We failed to confirm the following predictions from the falconer model: decreased prevalence of disease in relatives, proportional to decreased family links, and the order of birth effect. An heredity greater than 100% was calculated which is concordant with the presence of at least a locus with a major gen affect. CONCLUSION: Our results reject the multifactorial threshold effect and suggest the presence of a major gen or Mendelian effect. An analysis of complex segregation is suggested for future studies.

Adolescent↗

Shell disease in river cooters (Pseudemys concinna) and yellow-bellied turtles (Trachemys scripta) in a Georgia (USA) lake.

A disfiguring shell disease was detected in river cooters (Pseudemys concinna) and yellow-bellied turtles (Trachemys scripta) from Lake Blackshear, Georgia (USA). The turtles used were part of a mark-recapture study conducted from September 1991 to June 1993. Histologic changes on four turtles included acute segmental necrosis of the epidermis, followed by ulceration, necrosis of the underlying dermis and dermal bone, and exaggerated remodeling of bone. Additional findings included visceral inflammatory lesions and bacterial infection, sepsis and marked trematode ova granulomatosis. The cause of the shell lesions was not determined.

Animals↗

Complex segregation analysis of non-myoclonic idiopathic generalized epilepsy in families ascertained from probands affected with idiopathic epilepsy with tonic-clonic seizures in Antioquia, Colombia.

In an attempt to identify the possible role of major genes, multifactorial inheritance, and cohort effects in the susceptibility to idiopathic epilepsy with generalized tonic-clonic seizures of the awakening type (GTCS), complex segregation analysis was performed in 196 nuclear families ascertained through affected probands with idiopathic epilepsy with GTCS belonging to the Paisa community of Antioquia (Colombia). Models postulating no transmission, single major locus (dominant and recessive) only, and multifactorial component only, were rejected. Since the codominant single major locus model could not be rejected and models that assign no major locus to transmission, no polygenic component to transmission, and no transmission of the major effect were rejected, complex segregation analysis suggested that a major autosomal codominant allele together with a multifactorial component (mixed model) best explained clustering of idiopathic epilepsy with GTCS in families of the Paisa community. The deficit of transmission of heterozygotes (0.17) is compatible with the existence of epistasis acting on a major gene whose frequency was estimated to be 0.0211. Its transmission variance accounts for 81% of the susceptibility to idiopathic epilepsy with GTCS. The complementary variance (19%) is due to the polygenic component.

Alleles↗

Idiopathic epilepsy with generalized tonic clonic seizures in Antioquia, Colombia: is the joint Amerindian and Negroid racial admixture the cause of its high prevalence?

Most Colombian populations stem from the admixture of Caucasians, Amerindians and Negroids. In the world, these two latter ethnical groups show a significantly higher prevalence of epilepsy than the former one. We tested the hypothesis that the high prevalence of idiopathic epilepsy with generalized tonic clonic seizures found in the Antioquian population (Paisas), from Colombia, is due to their possible joint Negroid and Amerindian ethnic components. We have previously demonstrated that inheritance is the principal factor for developing epilepsy in this community. Analyses of racial admixture, heterogeneity between populations, genetic distance, and phyletic relationships were performed among epileptic and non epileptic samples from the Antioquian community. Also Caucasians, Spaniards, Basques, Jews, Chileans, Negroids, Amerindians and Mongoloids were included in the analysis. Four highly polymorphic blood systems were used as genetic markers: RH, MNS, ABO and FY. They were chosen because of their high discriminant power in these ethnic groups. In the population affected with idiopathic epilepsy, the estimated Negroid and Amerindian rates of admixture were low (3% and 14%, respectively). Although, these degrees of admixture can be explained due to common ancestral origins, the estimated proportion of Amerindian admixture in the epileptic affected population, was significantly higher than the estimated for the Non affected Antioquian population. The latter finding is consistent with the analysis of heterogeneity between populations that discriminated epileptic population from non epileptic Antioquian population (p < 0.05). Epileptic and non epileptic Paisas clustered in topology with Caucasians, very close to Spaniards and Basques and highly distant from Negroids and Amerindians. Thus, far, the origin of the high prevalence of idiopathic epilepsy in the Antioquian (Paisa) population cannot be explained by the hypothetical joint Negroid and Amerindian ethnical admixture, but using additional genetic markers and other methods of racial estimation of admixture it is necessary to corroborate if the Amerindian admixture component is significantly higher in the epileptic population than in the non epileptic Paisa population.

Black People↗

Medical management of inflammatory bowel disease in a spider monkey.

Inflammatory bowel disease was diagnosed in a 3-year-old, captive-born, hand-raised, female spider monkey (Ateles geoffroyi). The diagnosis was based on clinical signs, positive-contrast radiographic series, endoscopy, histologic appearance of intestinal biopsy specimens, and the monkey's response to treatment. Treatment consisted of oral administration of prednisone, sulfasalazine, and trimethoprim-sulfamethoxazole. Supportive care included a bland diet and an electrolyte solution given free choice. Although several infective agents were considered, this case illustrates that recurrent enteritis in primates may be noninfectious and may respond to anti-inflammatory agents.

Animals↗

Anatomic and radiographic study of the lacrimal apparatus of llamas.

The anatomy of the nasolacrimal duct of llamas was examined grossly and radiographically in 2 llamas. Dacryocystorhinography was performed on cadaver heads, using a radiographic aqueous contrast agent. Anatomic casts of the nasolacrimal apparatus were obtained by cannulation of the duct and use of polyurethane cast material. Dacryocystorhinography accurately revealed the nasolacrimal apparatus and compared favorably with gross dissections and polyurethane casts.

Animals↗

Possible association between Dirofilaria tenuis infections in humans and its prevalence in raccoons in Florida.

A study was undertaken to determine the prevalence of Dirofilaria tenuis in raccoons from subtropical southern Florida as compared to the northern part of the state. The results indicate that D. tenuis is more prevalent in southern Florida and suggest that this might be why humans suffer from more D. tenuis infections in southern Florida than in other parts of the state.

Animals↗

[Mode of inheritance of idiopathic generalized non-myoclonic epilepsy in families investigated by studying members with idiopathic epilepsy with tonic-clonic crises on waking. Antioquia, Colombia].

In attempt to identify the possible role of mayor genes, multifactorial inheritance, and cohort effects in the susceptibility to idiopathic epilepsy with generalized tonic clonic seizures of the awakening type (GTCS), complex segregation analysis was performed in 196 nuclear families ascertained through affected with probands with idiopathic epilepsy with GTCS belonging to the Paisa community of Antioquia (Colombia). Models postulating no transmission, single mayor locus (dominant and recessive) only, and multifactorial component only, were rejected. The models postulating no polygenic component to transmission, and no transmission of the major effect were also rejected. Thus far, complex segregation analysis suggested that a major autosomal codominant allele together with a multifactorial component (mixed model) best explains clustering of idiopathic epilepsy with GTCS in families of the Paisa community. The deficit of transmission of heterozygotes (0.17) is compatible with the existence of epistasis acting on a major gene whose frequency was estimated to be 0.0211. Its transmission variance accounts for 81% of the susceptibility to idiopathic epilepsy with GTCS. The complementary variance (19%) is due to polygenic component.

Adolescent↗

Bacteremia and vegetative endocarditis associated with a heart murmur in a blue-and-gold macaw.

A 6-year-old male blue-and-gold macaw (Ara ararauna) was presented with severe weakness, anorexia, and weight loss of 2 weeks duration. Cardiac auscultation revealed a soft systolic murmur. Blood cultures collected both antemortem and postmortem yielded pure isolates of Enterobacter cloacae. At necropsy, vegetative endocarditis was found involving the left atrioventricular valve. Microscopically, the lesion on the valve was characterized by a mixture of necrotic material, colonies of gram-negative bacteria, fibrosis, and inflammatory infiltrate consisting primarily of heterophils.

Animals↗