PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family / Mutação c.582-1G>A do gene PRPH2 causando distrofia macular de início adulto com fenótipo de distrofia macular anular concêntrica benigna em uma família

ABSTRACT The peripherin gene (PRPH2) mutation is associated with photoreceptor cell dysfunction as well as in several inherited retinal dystrophies. The PRPH2 mutation c.582-1G>A is a rare variant reported in retinitis pigmentosa and pattern dystrophy. Here Case 1 was of a 54-year-old woman with bilateral atrophy of the perifoveal retinal pigmentary epithelium and choriocapillaris with central foveolar respect. Autofluorescence and fluorescein angiography revealed perifoveal atrophy of the retinal pigmentary epithelium with an annular window effect without the "dark choroid" sign. Case 2 (mother of Case 1) presented with extensive atrophy of the retinal pigmentary epithelium and choriocapillaris. PRPH2 was evaluated and the c.582-1G>A mutation was identified in heterozygosity. An advanced adult-onset benign concentric annular macular dystrophy diagnosis was thereby proposed. The c.582-1G>A mutation is poorly known and not present in all common genomic databases. This case report is the first one to report a c.582-1G>A mutation associated with benign concentric annular macular dystrophy.

RESUMO Mutações do gene da periferina (PRPH2) estão associadas à disfunção das células fotorreceptoras e estão envolvidas em várias distrofias retinianas hereditárias. A mutação c.582-1G>A do gene PRPH2 é uma variante rara, relatada na retinite pigmentosa e nas distrofias em padrão. O caso 1 foi de uma mulher de 54 anos com atrofia bilateral do epitélio pigmentar da retina perifoveal e da coriocapilar, com acometimento foveolar central. A autofluorescência e a angiofluoresceinografia revelaram atrofia perifoveal do epitélio pigmentar da retina, com efeito de janela anular, sem o sinal da "coroide escura". O caso 2 (mãe) apresentava extensa atrofia do epitélio pigmentar da retina e da coriocapilar. Foi feito um estudo do gene PRPH2, que identificou a mutação c.582-1G>A em heterozigose. Foi proposto um diagnóstico de distrofia macular anular concêntrica benigna de início adulto em estágio avançado. A mutação c.582-1G>A é pouco conhecida e não está presente em todos os bancos de dados genômicos usuais. Este é o primeiro relato de caso publicado de uma mutação c.582-1G>A associada à distrofia macular anular concêntrica benigna.

PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.

The peripherin gene (PRPH2) mutation is associated with photoreceptor cell dysfunction as well as in several inherited retinal dystrophies. The PRPH2 mutation c.582-1G>A is a rare variant reported in retinitis pigmentosa and pattern dystrophy. Here Case 1 was of a 54-year-old woman with bilateral atrophy of the perifoveal retinal pigmentary epithelium and choriocapillaris with central foveolar respect. Autofluorescence and fluorescein angiography revealed perifoveal atrophy of the retinal pigmentary epithelium with an annular window effect without the "dark choroid" sign. Case 2 (mother of Case 1) presented with extensive atrophy of the retinal pigmentary epithelium and choriocapillaris. PRPH2 was evaluated and the c.582-1G>A mutation was identified in heterozygosity. An advanced adult-onset benign concentric annular macular dystrophy diagnosis was thereby proposed. The c.582-1G>A mutation is poorly known and not present in all common genomic databases. This case report is the first one to report a c.582-1G>A mutation associated with benign concentric annular macular dystrophy.

[Dandy-Walker malformation associated with extracranial abnormalities in a newborn]. / Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato.

Hydrocephalus is a clinical condition that consists of an accumulation of cerebrospinal fluid around the brain; Dandy- Walker syndrome is a rare cause of it. We present the case of a newborn with prenatal diagnose of hydrocephalus due to a Dandy-Walker malformation, as well as ambiguous genitalia. After birth, diagnosis of Dandy-Walker malformation associated with uncommon extracranial manifestations is confirmed. Specifically, the baby presents interscrotal hypospadias and coronary sinus dilatation due to the persistence of the left superior vena cava. With the exposition of this case, we bring Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato Dandy-Walker malformation associated with extracranial abnormalities in a newborn out the complexity of the Dandy-Walker syndrome due to the malformations associated with it; the ones that will determine the prognosis and the need of a multidisciplinary treatment.

La hidrocefalia es una condición clínica que consiste en un cúmulo de líquido cefalorraquídeo a nivel encefálico. Una de las causas, poco frecuente, es el síndrome de Dandy-Walker. Se presenta el caso de un recién nacido con diagnóstico prenatal de hidrocefalia secundaria a una malformación de Dandy- Walker y sospecha de genitales ambiguos. Tras el nacimiento, se confirma el diagnóstico prenatal de malformación de Dandy-Walker asociado a manifestaciones extracraneales poco frecuentes como hipospadias interescrotal y dilatación del seno coronario secundario a persistencia de la vena cava superior izquierda. Con este caso clínico queremos exponer la complejidad del síndrome de Dandy-Walker debido a sus múltiples asociaciones, que marcarán el pronóstico del paciente y la necesidad de tratamiento multidisciplinar.

Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato / Dandy-Walker malformation associated with extracranial abnormalities in a newborn

La hidrocefalia es una condición clínica que consiste en un cúmulo de líquido cefalorraquídeo a nivel encefálico. Una de las causas, poco frecuente, es el síndrome de Dandy-Walker. Se presenta el caso de un recién nacido con diagnóstico prenatal de hidrocefalia secundaria a una malformación de Dandy-Walker y sospecha de genitales ambiguos. Tras el nacimiento, se confirma el diagnóstico prenatal de malformación de Dandy-Walker asociado a manifestaciones extracraneales poco frecuentes como hipospadias interescrotal y dilatación del seno coronario secundario a persistencia de la vena cava superior izquierda. Con este caso clínico queremos exponer la complejidad del síndrome de Dandy-Walker debido a sus múltiples asociaciones, que marcarán el pronóstico del paciente y la necesidad de tratamiento multidisciplinar.

Hydrocephalus is a clinical condition that consists of an accumulation of cerebrospinal fluid around the brain; Dandy-Walker syndrome is a rare cause of it. We present the case of a newborn with prenatal diagnose of hydrocephalus due to a Dandy-Walker malformation, as well as ambiguous genitalia. After birth, diagnosis of Dandy-Walker malformation associated with uncommon extracranial manifestations is confirmed. Specifically, the baby presents interscrotal hypospadias and coronary sinus dilatation due to the persistence of the left superior vena cava. With the exposition of this case, we bring out the complexity of the Dandy-Walker syndrome due to the malformations associated with it; the ones that will determine the prognosis and the need of a multidisciplinary treatment

Relevance of angiotensin-(1-7) and its receptor Mas in pneumonia caused by influenza virus and post-influenza pneumococcal infection.

Resolution failure of exacerbated inflammation triggered by Influenza A virus (IAV) prevents return of pulmonary homeostasis and survival, especially when associated with secondary pneumococcal infection. Therapeutic strategies based on pro-resolving molecules have great potential against acute inflammatory diseases. Angiotensin-(1-7) [Ang-(1-7)] is a pro-resolving mediator that acts on its Mas receptor (MasR) to promote resolution of inflammation. We investigated the effects of Ang-(1-7) and the role of MasR in the context of primary IAV infection and secondary pneumococcal infection and evaluated pulmonary inflammation, virus titers and bacteria counts, and pulmonary damage. Therapeutic treatment with Ang-(1-7) decreased neutrophil recruitment, lung injury, viral load and morbidity after a primary IAV infection. Ang-(1-7) induced apoptosis of neutrophils and efferocytosis of these cells by alveolar macrophages, but had no direct effect on IAV replication in vitro. MasR-deficient (MasR-/-) mice were highly susceptible to IAV infection, displaying uncontrolled inflammation, increased viral load and greater lethality rate, as compared to WT animals. Ang-(1-7) was not protective in MasR-/- mice. Interestingly, Ang-(1-7) given during a sublethal dose of IAV infection greatly reduced morbidity associated with a subsequent S. pneumoniae infection, as seen by decrease in the magnitude of neutrophil influx, number of bacteria in the blood leading to a lower lethality. Altogether, these results show that Ang-(1-7) is highly protective against severe primary IAV infection and protects against secondary bacterial infection of the lung. These effects are MasR-dependent. Mediators of resolution of inflammation, such as Ang-(1-7), should be considered for the treatment of pulmonary viral infections.

Effect of glycerol, n, n-dimethylformamide and n-methyl-2-pyrrolidone on rabbit sperm stored at 4 °C and 16 °C.

Artificial insemination with cooled semen is the most common practice in rabbit farms and any improvement on it helps to increase the efficiency and productivity of rabbit meat farms. Therefore, the aim of this study was to assess whether different cryoprotectant agents (CPA) as glycerol, N, N-Dimethylformamide (DMF) and N-Methyl-2-Pyrrolidone (NMP) can improve cooled rabbit sperm quality stored at 4ºC and 16ºC. Sperm samples were diluted with INRA 96® (Extender A), INRA 96® with 6% glycerol (Extender B) or 6% DMF (Extender C) or 6% NMP (Extender D) respectively and stored at 4ºC and 16ºC. Samples were then analysed at 4, 24, 48 and 72 hours after refrigeration by integrated sperm analysis system (ISAS®), eosin-nigrosin stain (vitality), hypo-osmotic swelling test (HOS test) and acrosome integrity test. Extender C showed higher percentage of motility, vitality and HOS test than extender B and D (p<0.05). Whereas sperm quality decreased over time (p<0.05), data showed that the addition of DMF kept the motility and sperm plasma membrane integrity after 24 hours of storage better than other diluents. These results suggest that the addition of DMF to INRA 96® exerts a protective effect on the membrane of spermatozoa improving seminal quality.

Effect of glycerol, n, n-dimethylformamide and n-methyl-2-pyrrolidone on rabbit sperm stored at 4 °C and 16 °C

Artificial insemination with cooled semen is the most common practice in rabbit farms and any improvement on it helps to increase the efficiency and productivity of rabbit meat farms. Therefore, the aim of this study was to assess whether different cryoprotectant agents (CPA) as glycerol, N, N-Dimethylformamide (DMF) and N-Methyl-2-Pyrrolidone (NMP) can improve cooled rabbit sperm quality stored at 4ºC and 16ºC. Sperm samples were diluted with INRA 96® (Extender A), INRA 96® with 6% glycerol (Extender B) or 6% DMF (Extender C) or 6% NMP (Extender D) respectively and stored at 4ºC and 16ºC. Samples were then analysed at 4, 24, 48 and 72 hours after refrigeration by integrated sperm analysis system (ISAS®), eosin-nigrosin stain (vitality), hypo-osmotic swelling test (HOS test) and acrosome integrity test. Extender C showed higher percentage of motility, vitality and HOS test than extender B and D (p<0.05). Whereas sperm quality decreased over time (p<0.05), data showed that the addition of DMF kept the motility and sperm plasma membrane integrity after 24 hours of storage better than other diluents. These results suggest that the addition of DMF to INRA 96® exerts a protective effect on the membrane of spermatozoa improving seminal quality.(AU)

Effect of glycerol, n, n-dimethylformamide and n-methyl-2-pyrrolidone on rabbit sperm stored at 4 °C and 16 °C

Artificial insemination with cooled semen is the most common practice in rabbit farms and any improvement on it helps to increase the efficiency and productivity of rabbit meat farms. Therefore, the aim of this study was to assess whether different cryoprotectant agents (CPA) as glycerol, N, N-Dimethylformamide (DMF) and N-Methyl-2-Pyrrolidone (NMP) can improve cooled rabbit sperm quality stored at 4ºC and 16ºC. Sperm samples were diluted with INRA 96® (Extender A), INRA 96® with 6% glycerol (Extender B) or 6% DMF (Extender C) or 6% NMP (Extender D) respectively and stored at 4ºC and 16ºC. Samples were then analysed at 4, 24, 48 and 72 hours after refrigeration by integrated sperm analysis system (ISAS®), eosin-nigrosin stain (vitality), hypo-osmotic swelling test (HOS test) and acrosome integrity test. Extender C showed higher percentage of motility, vitality and HOS test than extender B and D (p<0.05). Whereas sperm quality decreased over time (p<0.05), data showed that the addition of DMF kept the motility and sperm plasma membrane integrity after 24 hours of storage better than other diluents. These results suggest that the addition of DMF to INRA 96® exerts a protective effect on the membrane of spermatozoa improving seminal quality.

Hiponatremia severa e hidrocefalia normotensiva del adulto: Reporte de un caso / Severe hyponatremia and normotensive hydrocephalus in the adult: Report of a case

Presentamos una paciente de 62 años de edad que ingresa por cefalea, alteraciones conductuales, síndrome tónico-frontal simétrico y síndrome cerebeloso de dos meses de evolución asociado a hiponatremia crónica severa. Se plantea el diagnóstico de síndrome de secreción inadecuada de hormona antidiurética (ADH) secundario a hidrocefalia normotensiva del adulto, presentando clara mejoría con la derivación ventrículo-peritoneal. Este caso pretende aportar información sobre una asociación descrita pero poco frecuente.

We present a 62-year-old patient presenting with a two-month episode of headaches, disrupted behavior, symmetric tonic frontal syndrome and cerebellar syndrome associated with severe chronic hyponaetremia. The diagnosis upon admission was an inadequate anti-diuretic hormone (ADH) secretion syndrome secondary to normotensive hydrocephalus of the adult, clearly improving after the ventricular-peritoneal shunt. This case provides information on a rarely reported association.

Apendicitis del muñón apendicular / Appendicitis of the appendicular stump

La apendicitis del muñón es una entidad rara, caracterizada por un proceso inflamatorio del remanente apendicular luego de una apendicectomía incompleta. Los signos y síntomas no difieren de una apendicitis aguda. Al no ser una patología usualmente pensada como posible diagnóstico diferencial del abdomen agudo inflamatorio, tiene mayor riesgo de complicaciones y morbi-mortalidad. Los métodos seccionales de diagnósticos por imágenes resultan muy beneficiosos para definir el diagnóstico. La ultrasonografía (US) y tomografía computada (TC) demuestran signos similares a los observados en cuadros habituales de inflamación aguda del apéndice cecal. Se presentan dos casos de apendicitis del muñón, uno de ellos recibió tratamiento quirúrgico y el otro tratamiento médico.(AU)

Stump appendicitis is a rare entity characterized by inflammation of the appendiceal remanent after incomplete appendectomy. Signs and symptoms do not differ from acute appendicitis. As it is not a condition usually considered as a potential differential diagnosis of acute inflammatory abdomen, it has higher risks of complications and morbidity and mortality. Imaging methods are highly useful to define the diagnosis. Ultrasound (US) and Computed Tomography (CT) show signs similar to those found in standard cases of acute appendicitis. Two cases of stump appendicitis are reponed: one managed with surgical treatment and the other with medical treatment.(AU)

Apendicitis del muñón apendicular / Appendicitis of the appendicular stump

La apendicitis del muñón es una entidad rara, caracterizada por un proceso inflamatorio del remanente apendicular luego de una apendicectomía incompleta. Los signos y síntomas no difieren de una apendicitis aguda. Al no ser una patología usualmente pensada como posible diagnóstico diferencial del abdomen agudo inflamatorio, tiene mayor riesgo de complicaciones y morbi-mortalidad. Los métodos seccionales de diagnósticos por imágenes resultan muy beneficiosos para definir el diagnóstico. La ultrasonografía (US) y tomografía computada (TC) demuestran signos similares a los observados en cuadros habituales de inflamación aguda del apéndice cecal. Se presentan dos casos de apendicitis del muñón, uno de ellos recibió tratamiento quirúrgico y el otro tratamiento médico.(AU)

Stump appendicitis is a rare entity characterized by inflammation of the appendiceal remanent after incomplete appendectomy. Signs and symptoms do not differ from acute appendicitis. As it is not a condition usually considered as a potential differential diagnosis of acute inflammatory abdomen, it has higher risks of complications and morbidity and mortality. Imaging methods are highly useful to define the diagnosis. Ultrasound (US) and Computed Tomography (CT) show signs similar to those found in standard cases of acute appendicitis. Two cases of stump appendicitis are reponed: one managed with surgical treatment and the other with medical treatment.(AU)

Apendicitis del muñón apendicular / Appendicitis of the appendicular stump

La apendicitis del muñón es una entidad rara, caracterizada por un proceso inflamatorio del remanente apendicular luego de una apendicectomía incompleta. Los signos y síntomas no difieren de una apendicitis aguda. Al no ser una patología usualmente pensada como posible diagnóstico diferencial del abdomen agudo inflamatorio, tiene mayor riesgo de complicaciones y morbi-mortalidad. Los métodos seccionales de diagnósticos por imágenes resultan muy beneficiosos para definir el diagnóstico. La ultrasonografía (US) y tomografía computada (TC)demuestran signos similares a los observados en cuadros habituales de inflamación aguda del apéndice cecal. Se presentan dos casos de apendicitis del muñón, uno de ellos recibió tratamiento quirúrgico y el otro tratamiento médico...

Brief communication: effect of post-mating progestagen administration on pregnancy rate in crossbred goats following an induced estrus

Los celos inducidos con progesterona o progestagenos son de menor fertilidad en comparación con los celos naturales. Sin embargo, la administración postmonta de progesterona ha sido reportada por incrementar el desarrollo embrionario y la tasa de preñez; por lo tanto, el propósito de este estudio fue evaluar el efecto de la administración postmonta de un progestageno sobre la tasa de preñez en cabras mestizas tropicales luego de un celo inducido con acetato de medroxiprogestrona (MAP) durante el periodo temprano postparto. La inducción del celo se inicio el día 31,3 ± 1,7 postparto mediante la utilización de esponjas intravaginales impregnadas con 60 mg de MAP durante 14 días y al momento del retiro de las esponjas se aplicaron 500 UI de eCG, vía intramuscular. El celo fue detectado cada seis horas a partir de 24 horas de retiradas las esponjas. El servicio se realizó por monta natural con dos machos enteros. Cinco días luego de la monta, las cabras servidas fueron distribuidas de forma aleatoria en dos grupos, el grupo control (n=18), sin tratamiento; y el grupo MAP (n=18), que recibió una esponja con 60 mg de MAP por 14 días. El diagnóstico ultrasonográfico de preñez se realizó a los 50 días postmonta. El tratamiento con MAP no afectó la tasa de preñez, con 44,4 por ciento (8/18) en el grupo MAP, mientras que en el grupo control fue de 55,5 por ciento (10/18), P>0,05. En conclusión, el tratamiento con una esponja impregnadas con 60 mg de MAP entre los días 5 y 19 postmonta no afectó la tasa de preñez luego de un celo inducido durante el período postparto temprano en cabras mestizas tropicales.

Estrus induced with progesterone or progestagens have low fertility compared to natural estrus. However, post-mating progesterone administration has been reported by increases embryo development and pregnancy rate; therefore the aim of this study was to evaluate the effect of post-mating progestagen administration on pregnancy rate after medroxyprogesterone acetate (MAP) induced estrus in crossbred goats. Estrus induction was started at 31.3 ± 1.7 days post-partum with intra- vaginal sponges impregnated with 60 mg of MAP during 14 days and at time of sponge removal were applied 500 IU of eCG intramuscular. Estrus was detected every 6 hours from 24 hours onwards after sponge withdrawal. Goats were naturally mated with two entry bucks. Five days post-mating, mated goats were randomly assorted into two groups, control group (n=18), without any treatment, and MAP group (n=18), receiving a sponge with 60 mg of MAP for fourteen days. Ultrasonographyc diagnosis of pregnancy was performed at day 50 post-mating. MAP treatment, did not affect the pregnancy rate, with 44.4% (8/18) in MAP group, while in control group was 55.5% (10/18), P>0.05. In conclusion, MAP treatment with a sponge impregnated with 60 mg of MAP between days 5 and 19 post-mating did not affect the pregnancy rate after progestagen induced estrus during the early post-partum period in crossbred tropical goats.

Resultados de la fertilización in vitro utilizando semen congelado de los moruecos assaf / In vitro fertilization results using frozen thawed sperm of the assaf ram

En el presente trabajo, se analiza el efecto animal, mes (marzo, mayo, julio y septiembre) de congelación así como el diluyente de congelación utilizado, sobre los resultados de fertilización in vitro (FIV). El semen fue recolectado de cinco moruecos Assaf y congelado en presencia ó en ausencia del Orvus Paste. Para las pruebas de FIV se utilizaron ovarios de hembras prepuberales sacrificadas en el matadero local de los que se obtenían los ovocitos para aspiración folicular. Los resultados del estudio estadístico pusieron en evidencia que ni el semen de morueco ni el diluyente utilizado ó el mes de relización de la congelación influían en los porcentajes observados de FIV, factores que si tenían un efecto significativo en la calidad la dosis post descongelación