Uso do diluente água de coco em pó (ACP-103®) na conservação prolongada do sêmen do varrão: avaliação in vitro e in vivo / Use of powder coconut water as extender (ACP-103®) for boar semen longer preservation: in vitro and in vivo evaluations

O sêmen de oito reprodutores foi coletado e de cada ejaculado separou-se um total de 1,75x10(9)sptz, com concentração de 35x10(6)sptz/mL. Usou-se o Beltsville Thawing Solution (BTS) como controle para testar o diluente água de coco em pó (ACP). O dia de coleta foi o dia zero (D0), sendo o sêmen conservado durante cinco dias, com análises diárias no D0 e nos quatro dias seguintes (D1, D2, D3 e D4). A avaliação da qualidade espermática baseou-se nos resultados do vigor espermático, da porcentagem de células móveis, da morfologia espermática, da integridade da membrana plasmática e dos resultados de fertilidade. As avaliações do vigor espermático (4,1) e da porcentagem de espermatozoides móveis (91 por cento) ficaram acima dos parâmetros mínimos exigidos (3,0 e 70 por cento) para sua utilização em programas de inseminação artificial, pois não houve influência sobre as variáveis analisadas pelo protocolo experimental. O resultado médio da resistência osmótica foi de 71,3 por cento de espermatozoides com cauda enrolada. Não houve diferenças entre os dois diluentes testados para a característica células com acrossoma intacto (BTS = 67,1 por cento; ACP = 71,2 por cento). O sêmen diluído em ACP apresentou maior número de células vivas (77,7 por cento) com membrana plasmática íntegra (74,2 por cento) após a conservação. A escolha do diluente ACP é aconselhável para uso de rotina em laboratórios que trabalhem com conservação de sêmen suíno. Apesar dos bons resultados in vitro obtidos com o diluente ACP, o BTS apresentou os melhores resultados de fertilidade, 86,7 por cento e 96,7 por cento, respectivamente.

The semen of eight boars was collected and a total of 1.75x10(9) spermatozoa were separated from each ejaculate, obtaining a concentration of 35x10(6)sptz/mL. The Beltsville Thawing Solution (BTS) was used as control, being tested the powder coconut water as extender (PCW). The day of collection was considered day zero (D0), and the semen was conserved for five days, with analyses on D0 and on four subsequent days (D1, D2, D3, and D4). The evaluation of spermatic quality was based on the results of spermatozoa vigour, cells motility, spermatic morphology, plasmatic membrane integrity, and fertility. The evaluations of the in natura semen presented mean values of spermatozoa vigour (4.1) and mobile spermatozoids percentage (91 percent) above the demanded minimum parameters (3.0 and 70 percent) for its use in artificial insemination programs without influencing on the analyzed variables. The mean results of the osmotic resistance were excellent, with 71.3 percent of spermatozoids with coiled tail. There were no differences between the two extenders tested for the characteristic cells with intact acrossome (BTS = 67.1 percent; PCW = 71.2 percent). The semen diluted in PCW extender presented a higher number of alive cells (77.7 percent) with a complete plasmatic membrane (74.2 percent) after conservation period. The choice of PCW extender is advisable for the routine use in laboratories that work with conservation of swine semen. In spite of the good results in vitro with the PCW extender, the BTS presented the best fertility results, 86.7 percent and 96.7 percent, respectively.

Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance.

Gershoni-Baruch syndrome is a multiple congenital malformation complex characterized by omphalocele, diaphragmatic hernia, cardiovascular abnormalities, and radial ray defects. Autosomal recessive inheritance is suggested. We describe two additional cases from a single family (sister and brother) delivered through termination at 23 and 9 weeks of gestation, respectively. The first fetus showed a spectrum of schisis defects without any limb involvement while the second bore mainly malformations of hands and feet. The occurrence of two different syndromes in the same family is highly improbable, but, considering both malformation complexes as possible manifestations of the same disease, a diagnosis of Gershoni-Baruch syndrome appears the most reasonable. These new familial cases bring further support to the hypothesis of an autosomal recessive inheritance of this syndrome.

Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.

Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of different cranial and digital anomalies. We report on a new patient with the characteristic features of Filippi syndrome, comparing him with other reported cases and underlining the peculiar and specific shape of the nasal bridge. The metacarpophalangeal profile in our patient is also quite unusual and could be, if confirmed, a good marker of this syndrome.

A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics.

We describe a retarded female patient with distinct facial dysmorphism (round puffy cheeks, epicanthal folds, ocular hypertelorism, short broad nose, low set and slanted ears), joint laxity, clinodactyly, abnormal dermatoglyphics (bilateral absence of c palmar triradius and single palmar crease) and a peculiar metacarpophalangeal profile. The possibility of a new MCA/MR is discussed.

Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome).

We report on a patient with clinical manifestations consistent with a diagnosis of congenital onychodysplasia of the index fingers (COIF). This syndrome has been found mainly in Japan, and as far as we know, this is the first case reported in Italy. In addition to the typical bilateral split nail of the second finger, the patient showed bilateral inguinal hernia, a peculiar face, and short hands. The metacarpophalangeal profile showed a generalized brachydactyly with all the hand long bones below x3 SD. The patient's father showed a peculiar kind of micronychia on both the fifth toes, suggesting a possible autosomal dominant transmission of the syndrome. In utero ischemia of the palmar digital artery and a dysplastic change in the crescent-shaped cap of the distal phalanx are the two main candidate pathogenetic mechanisms that have been proposed. In our opinion, the gradual broadening of the spectrum of this syndrome brings support to the hypothesis of a basal dysplastic pathogenetic mechanism involving not only the index fingers but also perhaps other tissues outside. We think that for the moment the definition of COIF for this syndrome should be maintained, the alternative proposed term "congenital onychodysplasia" being too indefinite.

Prenatal diagnosis of kyphomelic dysplasia.

Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. Mental development is generally normal. We report the in utero ultrasound appearances and post-mortem radiographic findings of a 22-week-old male fetus suggestive of KD. A review of 19 previously reported patients with KD is also presented.

Arterial tortuosity syndrome.

We describe a patient with arterial tortuosity syndrome (ATS), a rare disorder comprising generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and of intracranial arteries. The patient's probably affected brother and sister died at an early age. Cytochemical studies excluded Ehlers-Danlos type IV and type VII syndromes. We review 11 previously described patients.

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity. The second had postaxial polydactyly of hands and feet, cutaneous syndactyly of third and fourth right fingers and of second and third right toes without evident cutis marmorata. A magnetic resonance imaging scan showed cerebral alterations in both patients. The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata. The second had mild intertonsillar widening, cavum septi pellucidi, small porencephalic areas in the anterolateral region of cellae, and subsequently developed a nonobstructive hydrocephalus. Reviewing all reported cases we propose a new criterion for M-CMTC diagnosis.

Radioulnar synostosis and XYY syndrome.

Radioulnar synostosis in a boy with XYY syndrome is discussed. Only four other cases of radioulnar synostosis with XYY syndrome have been reported in the literature.

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Costello syndrome. This suggests that an increased risk of malignancy may be part of this condition.

Perfil em SDS-PAGE das proteínas do plasma seminal e sua relaçäo com a congelabilidade do sêmen de touros doadores da raça gir / SDS-PAGE seminal plasma proteins pattern and its correlation with gir breed semen freezability

Foram utilizados dez animais doadores de sêmen em nível de Central de Inseminaçäo Artificial, da raça Gir, divididos em dois grupos, de acordo com o grau de congelabilidade do sêmen de cada animal. Os animais com sêmen de alta congelabilidade foram aqueles cuja porcentagem de ejaculados viáveis pós-descongelaçäo foi superior a 80 por cento. O grupo de baixa congelabilidade tinha animais com porcentagem menor que 50 por cento de ejaculados viáveis pós-descongelaçäo. Os critérios de avaliaçäo da viabilidade do sêmen e seleçäo dos animais foram definidos pelo controle de qualidade do Departamento de Produçäo da Central de Inseminaçäo Artificial. Foram feitas quatro coletas semanais consecutivas, sendo que obtiveram-se as amostras de plasma seminal por centrifugaçäo a 1.500 g por 15 a 20 minutos a 4ºC, momentos após a coleta do sêmen em vagina artificial. O plasma seminal foi dialisado em membrana de celulose, em tampäo Tris-Glicina pH-7,4 por 24 horas a 4ºC, em agitaçäo lenta e constante. As amostras foram padronizadas em 1,0 mg/ml de proteína total, por diluiçäo em tampäo Tris-HCl 62mM pH-6,2 mais 20 por cento de glicerol e 4 por cento de SDS. Através de eletroforese do tipo SDS-PAGE, foram feitas as corridas em gel a 13 por cento. A corrida foi feita com a constante de 25 mA, por um período de 5 horas. A coloraçäo do gel foi feita por Coomassie Brilliant Blue. Pelos resultados obtidos, verificou-se que existe uma banda no grupo de alta congelabilidade, cujo fragmento polipeptídico desta proteína tem Mr (mobilidade relativa) 20,3 e PM (peso molecular) aproximado de 61.800 Da. Esta banda nao foi detectada nas amostras do grupo de baixa congelabilidade, o que sugere ser um possível marcador bioquímico quanto ao potencial de criopreservaçäo do sêmen de bovinos

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.

Proteínas ligantes do insulin-like growth factor (IGFBPs) e dominância folicular em vacas Bos taurus indicus puras e cruzadas / Insulin-like growth factor-binding proteins and follicular dominance in Bos taurus indicus pure and crossed cows

O objetivo deste estudo foi identificar um marcador bioquímico de folículos bovinos com diâmetro maior do que 10 mm, o qual poderia ser utilizado para identificar folículos dominantes nesta espécie. Líquido folicular era aspirado de folículos com diâmetros menores do que 5 mm, entre 5 e 10 mm e maiores do que 10 mm, provenientes de ovários de 37 fêmeas bovinas abatidas. Após aspiraçäo, o líquido folicular (LF) era acondicionado em ependorfs etiquetados e congelados. Os padröes eletroforéticos em SDS-PAGE das proteínas do LF foram deteminados e verificou-se que os folículos com diâmetro maior do que 10 mm apresentaram um polipeptídeo com PM entre 39 e 43 KDa identificado como a proteína ligante de IGF-3 (IGFBP-3), o qual näo foi observado em folículos com diâmetro menor do que 5 mm e entre 5 e 10 mm. Este estudo sugere que este polipeptídeo possa ser utilizado como marcador bioquímico de folículos maiores do que 10 mm

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.

Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. Each mutation (a single nucleotide deletion and a splice-site mutation) is predicted to cause haploinsufficiency of TBX3, implying that critical levels of this transcription factor are required for morphogenesis of several organs. Limb abnormalities of ulnar-mammary syndrome involve posterior elements. Mutations in TBX5, a related and linked gene, cause anterior limb abnormalities in Holt-Oram syndrome. We suggest that during the evolution of TBX3 and TBX5 from a common ancestral gene, each has acquired specific yet complementary roles in patterning the mammalian upper limb.