Terminal deletion 6p23: a case report

We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.     

Effect of dietary supplementation with vitamin E and stocking density on macrophage recruitment and giant cell formation in the teleost fish, Piaractus mesopotamicus

The effect of dietary supplementation with 0, 100 and 450 mg of vitamin E (DL-alpha tocopheryl acetate)/kg of a dry diet on the kinetics of macrophage recruitment and giant cell formation in the pacu, maintained at different stocking densities (5 kg/m(3) and 20 kg/m(3)), was investigated by insertion of round glass coverslips into the subcutaneous connective tissue. After a feeding period of 18 weeks, the coverslips were implanted and later removed for examination at 2, 7 and 15 days post-implantation. Fish fed diets supplemented with 450 mg of vitamin E showed an increase (P<0.05) in the accumulation of macrophages, foreign body giant cells and Langhans type cells. The kinetics of macrophage recruitment and giant cell formation on the glass coverslips appeared to be strongly influenced by vitamin E supplementation, since fish fed a basal diet and held at high stocking densities showed low numbers of adhering cells on the coverslips, and high concentrations of plasma corticosteroids. On the other hand, fish given a diet supplemented with 450 mg of vitamin E did not show a similar difference in plasma cortisol concentrations related to stocking density. The effect of cortisol concentrations on carbohydrate metabolism, analysed by assessment of plasma glycaemia, was not clear. Blood glucose concentrations did not vary substantially with the different treatments examined. These results suggest that vitamin E may contribute to the efficiency of the fish's inflammatory response by increasing macrophage recruitment and giant cell formation in the foreign body granulomatous reaction. Vitamin E appeared to act on the stress response of pacus by preventing a stress-related immunosuppression.     

Adenocarcinomas of the nasal cavity and paranasal sinuses: a clinicopathological and immunohistochemical study of 14 cases

Aims : To evaluate the clinicopathological profile of 14 cases of nasal and paranasal sinusal adenocarcinoma, and to assess the usefulness of immunohistochemistry in the differential diagnosis of primary and metastatic intestinal-type adenocarcinoma.
Methods and results : Fourteen cases of nasal and paranasal adenocarcinoma, treated at IPOFG, Lisbon, between 1976 and 2002, were studied. Clinical records were reviewed and expression of cytokeratin (CK)7 and CK20 and of neuroendocrine markers was evaluated. The male : female ratio was 3 : 1, and the mean age of the patients was 65.3 years. Ten cases occurred in the paranasal sinuses. There was a history of professional exposure to dust in three patients. Twelve cases were high-grade intestinal type adenocarcinomas (ITAC) and two were low-grade. CK7 was present in 2/9 ITAC cases and CK20 in 8/9 ITAC and in cases of mixed and mucinous histology. All high-grade cases showed neuroendocrine differentiation. Seven of the 12 patients with high-grade adenocarcinoma died of the disease, with a mean follow-up of 47.4 months.
Conclusions : Nasal and paranasal adenocarcinoma mostly occurs in men in the 7th decade. ITAC is the most frequent histological type. The pattern of CK7/CK20 was not useful in the distinction between primary and metastatic intestinal adenocarcinoma. However, in the former, neuroendocrine differentiation proved to be a valuable tool in that distinction.     

Patterns of exochorion ornaments on eggs of seven South American species of Lutzomyia sand flies (Diptera: Psychodidae)

The patterns of exochorion ornaments on eggs of seven South American Lutzomyia sand fly species were analyzed by scanning electron microscopy (SEM): Lutzomyia (Lutzomyia) cruzi (Mangabeira 1938), Lutzomyia (Micropygomyia) evandroi (Costa Lima and Antunes 1936), L. (Nyssomyia) intermedia (Lutz and Neiva 1912), L. longipalpis (Lutz and Neiva 1912), L. migonei (Franca 1920), L. (Nyssomyia) neivai (Pinto 1926), and L. renei (Martins, Falcao, and Silva 1957). Different patterns were observed, which showed the distinction between some species. Egg ornaments in L. cruzi and L. longipalpis appear as single, parallel, unconnected ridges, whereas eggs of L. migonei appear as single, parallel, connected ridges. Eggs of L. (Nyssomyia) intermedia and L. (N.) neivai present a new variation of the single, unconnected, parallel ridges pattern: small tubercles are present, distributed between the ridges. Eggs of L. renei present an elliptical pattern, with most structures connected by straight ridges. Eggs of L. (M.) evandroi present a polygonal pattern, with alternate rows of small and large hexagons. Our data emphasize the advantages of the SEM approach in the study of the exochorion patterns of Lutzomyia eggs and in the distinction of the sand fly species.     

Dosimetry characterization of 32P catheter-based vascular brachytherapy source wire

Dosimetry measurements and Monte Carlo simulations for a catheter-based 32P endovascular brachytherapy source wire are described. The measured dose rates were obtained using both radiochromic dye film and an automated plastic scintillator. The investigated source has dimensions of 27 mm in length and 0.24 mm in diameter, and is encapsulated in NiTi. For the radiochromic film measurements, calibrated radiochromic dye film was irradiated at distances between 1 and 5 mm from the source axis in A-150 plastic, and read out with a high-resolution scanning densitometer. The depth-dose curve measured in A-150 is then converted to that in water using correction factors obtained from Monte Carlo calculations. For the scintillator system, direct measurements in water were acquired at distances between 1 and 6 mm from the center of the source, along the perpendicular bisector of the source axis. The scintillator was calibrated in terms of absorbed-dose rate in a reference beta-particle field at multiple depths. The measured dose rates obtained from the film and scintillator measurements were then normalized to the measured source activity, i.e., to convert the measured data to units of cGy/s/mCi. Theoretical dosimetry calculations of the catheter-based 32P wire geometry were also obtained from Monte Carlo simulations using the Electron Gamma Shower code (EGS4), the Monte Carlo N-particle transport code (MCNP4B), and CYLTRAN from the Integrated Tiger Series codes (ITS v.3) and found to be in good agreement. The results of both measurements and calculations are expressed as absorbed-dose rate in water per unit of contained activity (cGy/s/mCi). Comparisons indicate that the measured and calculated dosimetry are in good agreement (<10%) within the relevant treatment distances (1-5 mm). This work fully characterizes the radiation field around a novel 32P beta brachytherapy source in water. The depth-dose curve can be used to calculate the dose to the vessel wall from a 27 mm 32P source wire centered within the vessel lumen.     

Sexually dimorphic expression of protease nexin-1 and vanin-1 in the developing mouse gonad prior to overt differentiation suggests a role in mammalian sexual development

The mammalian sex-determining pathway is controlled by the presence or absence of SRY expression in the embryonic gonad. Expression of SRY in males is believed to initiate a pathway of gene expression resulting in testis development. In the absence of SRY, ovary development ensues. Several genes have now been placed in this pathway but our understanding of it is far from complete and several functional classes of protein appear to be absent. Sex-determining genes frequently exhibit sexually dimorphic patterns of expression in the developing gonad both before and after overt differentiation of the testis or ovary. In order to identify additional sex-determining or gonadal differentiation genes we have examined gene expression in the developing gonads of the mouse using cDNA microarrays constructed from a normalized urogenital ridge library. We screened for genes exhibiting sexually dimorphic patterns of expression in the gonad at 12.5 and 13.5 days post-coitum, after overt gonad differentiation, by comparing complex cDNA probes derived from male and female gonadal tissue at these stages on micro-arrays. Using in situ hybridization analysis we show here that two genes identified by this screen, protease nexin-1 (Pn-1) and vanin-1 (Vnn1), exhibit male-specific expression prior to overt gonadal differentiation and are detected in the somatic portion of the developing gonad, suggesting a possible direct link to the testis-determining pathway for both genes.     

Vascular anatomy of the first metatarsal bone and surgical implications according to the severity of hallux valgus deformity: A cadaveric study

BackgroundVascular injury after hallux valgus surgery is a rare condition but serious complications can ensue.MethodsWe performed an anatomical study using 26 cadaveric lower extremities. We enhanced first metatarsal bone’s (FMB) vascularization by injecting latex. Each specimen was classified according to the severity of hallux valgus deformity (HVD). Then we measured two distances: one between the first tarsometatarsal joint (FTMJ) to the first dorsal branch’s origin, the other between the first metatarsophalangeal joint (MTP) to the dorsal plexus’s origin.ResultsThe distance between the FTMJ and the first dorsal branch to the FMB ranges from 10 mm in normal feet to 15 mm in severe deformed feet. The distance between the MTP and the dorsal plexus’ origin ranges from 20 mm in normal feet to 25 mm in severe deformed feet.ConclusionsUnderstanding the foot’s vascular anatomy has allowed us to adapt surgical landmarks to the severity of the HVD and to avoid post-operative complications.