Ciclo gametogênico e comportamento reprodutivo de Iphigenia brasiliana (Mollusca, Bivalvia, Donacidae) no estuário do rio Subaé, Baía de Todos os Santos, Bahia, Brasil

Este estudo teve como objetivos descrever o ciclo gametogênico e o comportamento reprodutivo da população de Iphigenia brasiliana (Lamarck,1818) no estuário do rio Subaé, Baía de Todos os Santos, Bahia. Os bivalves foram coletados de novembro de 2001 a novembro de 2002. Um total de 244 espécimes foi medido (eixo anteroposterior), eviscerado, fixado, desidratado e incluído em parafina. O estudo histológico das gônadas foi realizado através de cortes seriados do tecido gonadal, de 5 mm de espessura, e corados pela HE. O tamanho médio mínimo da primeira maturação sexual (Lpm) foi estimado a partir da distribuição das frequências relativas de jovens e adultos, por classe de comprimento dos indivíduos. As frequências relativas dos sexos em cada estádio de desenvolvimento foram consideradas conjuntamente para a análise do comportamento reprodutivo da população, e, em separado, para avaliar a sincronia do ciclo sexual entre machos e fêmeas. Foi observada uma variação de tamanhos entre 9,1 e 66,6 mm, com comprimento médio de 50,2 mm. O estudo não demonstrou diferença significativa entre os tamanhos de machos e fêmeas. Não foi possível observar a diferenciação de sexos em 2,1% dos indivíduos analisados. 51,6% dos indivíduos foram identificados como machos (M) e 46,3% como fêmeas (F), não sendo constatadas diferenças significativas entre o número médio de machos e fêmeas, resultando numa proporção de M:F de 1,1:1. O Lpm foi estimado em 11,4 mm, mas apenas ao alcançarem comprimento médio de 34,4 mm, todos os indivíduos foram considerados adultos. Foram caracterizados quatro estádios de evolução do desenvolvimento gonadal em fêmeas e machos. A análise dos diferentes estádios permitiu a observação dos fenômenos de atresia e inversão sexual em fêmeas. O ciclo reprodutivo apresentou eliminação contínua de gametas, com maiores intensidades reprodutivas nos meses de novembro de 2001 a abril de 2002 e, também, no mês de outubro de 2002.

The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population.

OBJECTIVE: To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-α (TNF-α) antagonist and the general population. METHODS: Analysis for comparison of proportional differences to a previous publication between anomaly subgroups, according to subgroup definitions of the European Surveillance of Congenital Anomalies (EUROCAT), a population-based database. RESULTS: Most EUROCAT subgroups belonging to the VACTERL association contained only one or 2 records of TNF-α antagonist exposure, so comparison of proportions was imprecise. Only the category "limb abnormalities" showed a significantly higher proportion in the general population. CONCLUSION: The high number of congenital anomalies belonging to the VACTERL association from a report of pregnancies exposed to TNF-α antagonists could not be confirmed using a population-based congenital anomaly database.

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Long-term observations of individuals with the so-called Langer-Giedion (LGS) or tricho-rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this syndrome which comprises ectodermal dysplasia, multiple cone-shaped epiphyses prior to puberty, multiple cartilaginous exostoses, and mostly mild intellectual impairment. LGS is caused by deletion of the chromosomal segment 8q24.11-q24.13 containing among others the genes EXT1 and TRPS1. Most patients with TRPS2 are only borderline or mildly cognitively delayed, and few are of normal intelligence. Their practical skills are better than their intellectual capability, and, for this reason and because of their low self-esteem, they are often underestimated. Some patients develop seizures at variable age. Osteomas on processes of cervical vertebrae may cause pressure on cervical nerves or dissection of cerebral arteries. Joint stiffness is observed during childhood and changes later to joint laxity causing instability and proneness to trauma. Perthes disease is not rare. Almost all males become bald at or soon after puberty, and some develop (pseudo) gynecomastia. Growth hormone deficiency was found in a few patients, TSH deficiency so far only in one. Puberty and fertility are diminished, and no instance of transmission of the deletion from a non-mosaic parent to a child has been observed so far. Several affected females had vaginal atresia with consequent hydrometrocolpos.

Estado actual de pacientes trasplantados en edad pediátrica con más de 20 años de seguimiento

L'objectiu d'aquest treball és analitzar els portadors d'un empelt hepàtic trasplantats en edat pediàtrica amb més de 20 anys de seguiment i per a això hem analitzat un total de 27 pacients. La principal indicació del trasplantament va ser l'atrèsia de vies biliars. S'han analitzat les complicacions quirúrgiques mèdiques i immunològiques, la immunosupressió, infecció per VHC, dades antropromètriques i adaptació social. Hem conclòs que la majoria dels pacients trasplantats en edat pediàtrica amb més de 20 anys d'evolució presenten una adaptació social excel•lent i pocs efectes adversos de la immunosupressió comparada amb la població adulta.

Nineteenth century research on cell death.

This paper reviews research on cell death in the 19th C. The first report of cell death was by Vogt in 1842, which was remarkably soon after the establishment of the cell theory by Schleiden and Schwann between 1838 and 1842. Initial studies on cell death, including that of Vogt, focused on its occurrence in metamorphosis (Vogt, 1842; Prévost and Lebert, 1844; Weismann, 1863-1866) or in blatant pathology (Virchow, 1858), but as histological techniques improved it was found to be involved in more subtle roles in numerous situations including endochondral ossification (Stieda, 1872), ovarian follicle atresia (Flemming, 1885), cell turnover (Nissen, 1886), the wholesale loss of a population of sensory neurons in fish (Beard, 1889), and the naturally occurring histogenetic death of myocytes (Felix, 1889) and neurons (Collin, 1906). The current categorization of cell death into about three main morphological types has 19th century roots in that apoptosis was well described by Flemming (1885), who called it chromatolysis, and various authors including Noetzel (1895) proposed a threefold classification. This article is part of a Special Issue entitled "Apoptosis: Four Decades Later".

Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries.

OBJECTIVES: We evaluated the prenatal detection of gastrointestinal obstruction (GIO, including atresia, stenosis, absence or fistula) by routine ultrasonographic examination in an unselected population all over Europe. METHODS: Data from 18 congenital malformation registries in 11 European countries were analysed. These multisource registries used the same methodology. All fetuses/neonates with GIO confirmed within 1 week after birth who had prenatal sonography and were born during the study period (1 July 1996 to 31 December 1998) were included. RESULTS: There were 670 793 births in the area covered and 349 fetuses/neonates had GIO. The prenatal detection rate of GIO was 34%; of these 40% were detected < or = 24 weeks of gestation (WG). A total of 31% (60/192) of the isolated GIO were detected prenatally, as were 38% (59/157) of the associated GIO (p=0.26). The detection rate was 25% for esophageal obstruction (31/122), 52% for duodenal obstruction (33/64), 40% for small intestine obstruction (27/68) and 29% for large intestine obstruction (28/95) (p=0.002). The detection rate was higher in countries with a policy of routine obstetric ultrasound. Fifteen percent of pregnancies were terminated (51/349). Eleven of these had chromosomal anomalies, 31 multiple malformations, eight non-chromosomal recognized syndromes, and one isolated GIO. The participating registries reflect the various national policies for termination of pregnancy (TOP), but TOPs after 24 WG (11/51) do not appear to be performed more frequently in countries with a liberal TOP policy. CONCLUSION: This European study shows that the detection rate of GIO depends on the screening policy and on the sonographic detectability of GIO subgroups.

Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia.

Gastrointestinal malformations: impact of prenatal diagnosis on gestational age at birth.

The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the study was 14 population-based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs and without chromosomal anomalies, born 1997-2002, were included. The 14 registries identified 1047 liveborn infants with one or more GIMs (oesophageal atresia, duodenal atresia, omphalocele, gastroschisis and diaphragmatic hernia). Median GA at birth was lower in prenatally diagnosed cases for all five malformations, although not statistically significant for gastroschisis. There was little difference in median birthweight by GA for the pre- and postnatally diagnosed infants. The difference in GA at birth between prenatally and postnatally diagnosed infants with GIMs is enough to increase the risk of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital malformations for liveborn infants. This may be because the benefits of prenatal diagnosis are outweighed by the problems arising from a lower GA at birth.

Anorectal Malformations: Finding the Pathway out of the Labyrinth.

Anorectal malformations (ARMs) are a complex group of congenital anomalies involving the distal anus and rectum, as well as the urinary and genital tracts in a significant number of cases. Most ARMs result from abnormal development of the urorectal septum in early fetal life. In most cases, the anus is not perforated and the distal enteric component ends blindly (atresia) or as a fistula into the urinary tract, genital tract, or perineum. ARMs are also present in a great number of syndromes and associations of congenital anomalies. The classification of ARMs is mainly based on the position of the rectal pouch relative to the puborectal sling, the presence or absence of fistulas, and the types and locations of the fistulas. All of this information is crucial in determining the most appropriate surgical approach for each case. Imaging studies play a key role in evaluation and classification of ARMs. In neonates, clinical and radiologic examinations in the first 3 days of life help determine the type of ARM and the need for early colostomy. In older children, preoperative pelvic magnetic resonance imaging is the most efficient diagnostic method for evaluating the size, morphology, and grade of development of the sphincteric musculature.

Aspectos reproductivos de Vinciguerria lucetia (Garman, 1899)

En el Perú, los estudios sobre peces mesopelágicos, fueron orientados hacia aspectos de taxonomía, distribución espacial y estimación acústica de la biomasa de Vinciguerria lucetia “vinciguerria”. Debido a su importancia tanto en el aspecto nutricional, económico como ecológico, la presente tesis pretende aportar una base científica para posteriores investigaciones, estableciendo una escala histológica de madurez gonadal que permita validar una escala macroscópica para facilitar el manejo de la obtención de datos sin tener que recurrir al uso de sofisticada maquinaria que actualmente es requerida para este tipo de investigación. El sistema reproductor de las hembras de V. lucetia consta de un par de ovarios, los cuales en su parte anterior están unidos por un solo oviducto y van adoptando una forma tubular en su parte media y posterior, terminando en bordes redondeados. Microscópicamente, los ovarios están conformados por una pared, lamelas y un estroma que los sostiene. El sistema reproductor de los machos consta de un par de testículos, de forma ligeramente laminar, con un túbulo de colección común que se engrosa en estadios maduros, microscópicamente, se diferenció una zona de crecimiento (periférica) y una zona de colección (central), en la primera se presentó los túbulos seminíferos y en la segunda los ductos eferentes. En el desarrollo ovocitario se caracterizó por presentar ovogonias y 5 tipos de ovocitos (inmaduro, pre-vitelogénico, vitelogénico, maduro e hidratado). Además de estructuras como folículos post – ovulatorios y atresia. El desarrollo espermatogénico presentó 4 tipos de células espermatogénicas (espermatogonia, espermatocito, espermátida y espermatozoide). La escala de madurez gonadal para hembras validada microscópicamente consta de 5 estadios (inmaduro, en maduración, maduro, desovante y recuperación) y macroscópicamente de 4 estadios (inmaduro, en maduración, maduro y desovante). Para machos, la escala macroscópica de madurez gonadal validada microscópicamente consta de 4 estadios (inmaduro, en maduración, maduro y expulsante). La proporción sexual de la fracción adulta fue favorable para hembras en el periodo de estudio y la talla de primera madurez gonadal para hembras a considerar es de 52 mm. El IGS promedio mostró un mayor valor para las hembras que para los machos, con un promedio de 5.19 ± 2.76 % y 4.38 ± 2.62 % respectivamente. El FC varió para las hembras de 0.20 - 0.87 %, con un promedio de 0.49 ± 0.09 % y para los machos de 0.28 - 0.87 %, con un promedio de 0.51 ± 0.09 %.

Seguimiento en cautiverio de la maduración gonadal y desove del lenguado Paralichthys adspersus (Steindachner)

Se describe el método de observaciones in vivo de la madurez gonadal de Paralichthys adspersus. Las observaciones microscópicas de las gónadas se realizaron con muestras provenientes de las canulaciones intra-ováricas e intra-testiculares, se analizó y describió el desarrollo ovocitario y espermatogénico en individuos mantenidos en condiciones de laboratorio para determinar el estado de madurez gonadal y el momento adecuado para la inducción hormonal. Se interpreta el significado de la atresia ovocitaria en las gónadas de lenguado.

Biología reproductiva de Platyxanthus orbignyi "Cangrejo violaceo" procedente de la caleta de Huanchaco - La Libertad durante el 2015

El objetivo es determinar las características reproductivas de Platyxanthus orbignyi “cangrejo violáceo”. La población en estudio estuvo constituida por los ejemplares de Platyxanthus orbignyi “cangrejo violáceo” capturados mediante los caballitos de totora en Huanchaco del Departamento de L a Libertad durante el año 2015. La muestra estuvo constituida por 1477 ejemplares, encontrándose 912 (61.75%) hembras y 565 (38.25%) machos, la proporción sexual global favoreció a las hembras con un valor de 2:1; en la proporción sexual a la talla se observó el predominio de hembras en tallas grandes. La talla de primera madurez sexual en hembras fue de 37 mm y en machos 39 mm. La talla de media de madurez sexual en hembras fue de 61 mm y de machos fue de 59 mm. El estadío de madurez sexual V de los ejemplares hembras predominó en el mes de Marzo con un 32.91% y de machos en el mes de Octubre con un 20.22%. El índice gonadosomático presentó variaciones con tendencias diferentes para cada género. El diámetro de los huevos varió de 466 μm (estadio I) a 575 μm (estadio IV). El porcentaje promedio de atresia fue de 8.52%. La fertilidad promedio, para el estadio IV, fue 105 462 huevos.

Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe.

The prevalence of anal anomalies among 4,618,840 births recorded in 33 EUROCAT registries between 1980 and 1994 was 4.05 per 10,000 births. Of the 1,846 recorded cases, 672 (36.4%) were isolated anal anomalies while 1,174 (63.6%) occurred together with other anomalies. Only isolated anal anomalies were analyzed in this study: 75.5% were atresias, 10.1% of which were above and 89.9% were below the level of the levator ani muscle. Fistula occurred in 53% of supralevator and 37% of infralevator atresia. Other anal anomalies were ectopic anus (3.4%), congenital anal fistula (14.7%), and persistent cloaca (0.9%). There was a predominance of males in anal atresia without fistula (male to female (M:F) ratio was 6.7 for supralevator and 2.3 for infralevator atresia), but no significant sex difference in atresias with fistula. There was a predominance of females in ectopic anus and congenital anal fistula (M:F = 0.11 and 0.36 respectively). High frequencies of fetal deaths were recorded in supralevator atresia without fistula (8.3%) and in persistent cloaca (11.1%). Mean gestational length and mean birth weights were reduced for persistent cloaca but were within normal limits for other isolated anal anomalies. Odds ratios (ORs) for mothers above 35 years were increased for supralevator atresia without fistula, supralevator atresia with fistula, and congenital anal fistula. ORs for mothers below 30 years were slightly increased for supralevator atresia without fistula and decreased for persistent cloaca. There were marked differences in prevalence and distribution of anal anomalies among the EUROCAT registries. The results indicated that there are epidemiological differences among the various types of anal anomalies which might reflect different embryological origins.

The diagnostic dilemma of hyperintense fetal lung on prenatal MRI : 12.03

Purpose: In the last years, MRI appears as a complementary diagnostic method to US in the diagnosis of congenital lung lesions. Focal homogeneous pulmonary hyperintensity on T2-WI constitutes a frequent pattern observed. Our purpose is to determine if this finding is associated with a characteristic pulmonary lesion. Materials and methods: Between 01.01.00 and 31.12.07, a total of 50 prenatal MRI in fetuses with echographic diagnosis of thoracic pathology were performed in our institution, including 12 cases of suspected congenital pulmonary lesions. Prenatal images were correlated with post-natal diagnosis. Results: In 12 cases, fetal MRI detected congenital pulmonary lesions. In 8 patients, typical signs (cystic lesions, septations, anomalous vasculature) clearly suggested a specific pathology. In 4 cases, MRI showed a focal homogeneous increase of the signal intensity (SI) on T2-WI of the pathologic lung related to the normal one. The final diagnosis of these fetuses included 1 patient with congenital cystic adenomatoid malformation type III, 1 patient with segmental emphysema and 2 cases of bronchial atresia. In all 4 cases, a significant post-natal reduction of the lesion size related to prenatal MRI studies was observed. Conclusion: Our study suggests that a focal increment of the SI of the lung on T2-WI is a non specific sign of congenital lung disease, present in different pathologies. Therefore, a prospective diagnosis is not possible.