ABSTRACT
Abstract: Few twinning events have been recorded in the West Indian manatee (Trichechus manatus, Sirenia: Trichechidae) and no previous published study has provided confirmation of this phenomenon based in molecular tools. Here we investigate a possible case of twinning in an endangered Brazilian population of T. manatus using molecular tools. We analyzed two male neonates found stranded in Ceará State, on the northeastern coast of Brazil. The DNA of both individuals was isolated, and 10 microsatellite loci were amplified and genotyped. Following the identification of the alleles, the probabilities of identity by descent (∆7 and ∆8) and relatedness (rxy) were calculated using estimators that evaluate inbreeding. The two individuals shared most of the alleles, with differences in the genotypes being identified in only two loci. All the estimators identified a level of relatedness compatible with that found between siblings (selfed or outbred), indicating they were dizygotic twins. This is the first confirmed case of fraternal twins in free-ranging West Indian manatees in South America. The recognition of this type of twinning provides elements to improve actions for the rehabilitation of stranded animals and their subsequent release to the environment.
Resumo: Poucos eventos de gemelaridade foram registrados para o peixe-boi marinho (Trichechus manatus, Sirenia: Trichechidae) e nenhum estudo previamente publicado confirmou esse fenômeno com base em ferramentas moleculares. Aqui investigamos um possível caso de gemelaridade em uma ameaçada população brasileira de T. manatus utilizando ferramentas moleculares. Foram analisados dois neonatos machos encontrados encalhados no Ceará, costa nordeste do Brasil. O DNA dos indivíduos foi isolado e 10 loci microsatélites foram amplificados e genotipados. Após a identificação dos alelos, as probabilidades de identidade por descendência (∆7 e ∆8) e relação (rxy) foram calculadas usando estimadores que avaliam endogamia. Os dois indivíduos partilharam a maioria dos alelos, com diferenças nos genótipos sendo identificadas em apenas dois loci. Todos os estimadores identificaram um nível de parentesco compatível com o encontrado entre irmãos (com e sem endogamia), o que aponta para o fato de serem gêmeos dizigóticos. Este é o primeiro caso confirmado de gêmeos fraternais em peixes-boi marinho de vida livre na América do Sul. O reconhecimento deste tipo de gemelaridade fornece elementos para aprimorar ações que visem a reabilitação de animais encalhados e sua posterior soltura ao ambiente.
ABSTRACT
Caso clínico: se informa el caso de una pareja de gemelas dicigóticas con diagnóstico de glaucoma crónico de ángulo estrecho en 2004, cuyol padre murió ciego; una hija de una de ellas fue diagnosticada posteriormente como afectada de glaucoma crónico de ángulo abierto. Se determinó la cigosidad de las gemelas mediante protocolo establecido al respecto. En los 4 ojos de las pacientes se determinaron presiones intraoculares por aplanación en cifras que fluctuaban entre 26-32 mmHg, cámaras anteriores y ángulos camerulares estrechos, perimetrías computarizadas tubulares en 3 ojos respetando los 5° centrales y en otro tubular que respetaba los 10° centrales con atrofias ópticas en evolución en los 4 ojos. Se efectuó trabeculectomía bilateral en ambas pacientes y se mantuvo el control de su enfermedad glaucomatosa. Conclusiones: se plantea la necesidad de la búsqueda de otros afectados en un núcleo familiar donde se diagnostiquen pacientes con glaucoma crónico de ángulo estrecho
Clinical case: here is the case of a dizygotic twin pair diagnosed with chronic narrow-angle glaucoma in 2994. Their father had died blind and a daughter of one of them was later diagnosed as a chronic open-angle glaucoma patient. A specific protocol allowed determining the zygocity of the twins. The intraocular pressures in the four eyes of the patients were measured with applanation tonometry and ranged 26-32 mmHg, narrow anterior chambers and camerular angles, computerized tubular perimetries in three eyes around central 5° and another tubular perimetry of central 10°, with developing atrophies in the four eyes. Both patients underwent bilateral trabeculectomy and the control over their glaucoma disease was kept. Conclusions: It is necessary to look for other people affected in a family setting where there exists diagnosis of chronic narrow-angle glaucoma
Subject(s)
Humans , Female , Aged , Twins, Dizygotic/genetics , Glaucoma, Angle-Closure/diagnosis , Trabeculectomy/methods , Visual Acuity , Epidemiology, Descriptive , Observational Studies as TopicABSTRACT
Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.
Subject(s)
Humans , Infant, Newborn , Alkalosis , Dehydration , Diagnosis, Differential , Diarrhea , Dilatation , Hyponatremia , Metabolism, Inborn Errors , Parents , Polyhydramnios , Secondary Prevention , Twins, DizygoticABSTRACT
Down syndrome is a chromosome related desease that shows mental retardation, growth retardation and many other signs such as defects in the face, hands and skin. Down syndrome is very uncommon in dizygotic twins, especially in twins with different sex. This twin's chromosomal analysis shows both twins with trisomy 21, but the parents' chromosomal analysis is normal. A 30 year old infertile woman who became pregnant via ICSI(intracytoplasmic sperm injection) has shown dizygotic twins with different sex to have Down syndrome and therefore it is being reported along with simple documents.
Subject(s)
Female , Humans , Down Syndrome , Hand , Intellectual Disability , Skin , Sperm Injections, Intracytoplasmic , Spermatozoa , Twins, DizygoticABSTRACT
Se presenta el caso de un par de gemelos dicigóticos, con uno de los fetos afectados por gastrosquisis, diagnosticado prenatalmente a las 22 semanas de edad gestacional por ultrasonografía. Se ofrecen datos acerca de su diagnóstico prenatal y se establece una posible relación entre la gemelaridad, la ingestión de bebidas alcohólicas durante el embarazo y aparición del defecto.
This paper reports a case of dizigotic, one of them affected by gastrochisis, prenatally diagnosed at 22 weeks of pregnancy by ultrasonography. Data about in prenatal diagnosis are offered and we establish a possible relationship between gemelary, alcohol consumption during pregnancy and the apparition of the defect.