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Radiological findings in a case of Menkes' disease (1995)

Pinto, F. ; Calderazzi, A. ; Canapicchi, R. ; [et al.]

Springer

Child's nervous system 11 (1995), S. 112-114

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ISSN: 1433-0350

Keywords: Menkes' disease ; Copper deficiency ; Pili torti ; Magnetic resonance imaging ; Skeletal roentgenography

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Menkes' disease, a neurodegenerative progressive X-linked disorder, was diagnosed in a 4-month-old child. The diagnosis was made on the combination of clinical features with laboratory and radiological findings. The pathogenesis of the skeletal findings in Menkes' disease is as yet unclear. Because of the severity of the prognosis and in order to plan treatment, the correct diagnosis has to be reached quickly. Typical manifestations of the syndrome are likely to develop after 3 months of age, with a pleiotropic appearance. In the present case, on the basis of the clinical investigation the patient underwent retrograde cystourethrography, roentgenographic examination of the skeleton, and magnetic resonance imaging of the brain. On analysis of the magnetic resonance imaging, we detected one-sided involvement of both subcortical and cortical parenchyma resembling a unilateral ischemic lesion such as, to our knowledge, has not yet been reported.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00303816

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Fine structure of the spermatozoa of Chiton marginatus (mollusca: Amphineura), with special reference to nucleus maturation (1983)

Russell-Pinto, F. ; Azevedo, C. ; Barandela, T.

New York, NY : Wiley-Blackwell

Gamete Research 8 (1983), S. 345-355

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ISSN: 0148-7280

Keywords: Amphineura ; ultrastructure ; spermatozoon ; nucleus ; Life and Medical Sciences ; Cell & Developmental Biology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Biology

Notes: The spermatozoon of Chiton marginatus is a long uniflagellate cell displaying structural features of “modified sperm.” The nucleus presents a conical shape with a long apical cylindrical extension. The chromatin is homogeneously dense. Scattered inside the condensed nucleus, a few nuclear lacunae are visible. The acrosomal complex is lacking. Some mitochondria are located in a laterofrontal structure side by side with the nucleus. The typical midpiece is absent. The cytoplasm forms a thin layer around the nucleus and the mitochondria. The proximal centriole is in a basal nuclear indent. The distal centriole serves to form the axoneme tail with the usual microtubular pattern.During nuclear maturation, the early spermatid nucleus is spherical and contains fine granular chromatin patches. The nuclear envelope shows a deposit of dense material at the base of the nucleus, forming a semicircular invagination occupied by a flocculent mass. In middle spermatid stage, the chromatin gets organized in filaments, coiled as a hank, attached over the inner surface of the basal thickening of the nuclear envelope. The nucleus starts to elongate anteroposteriorly. At the pointed apical portion of the spermatid, a group of microtubules is observed seeming to impose external pressure to the nucleus giving rise to the long apical nuclear point. The mitochondria have a basal position. Late spermatids have an elongated conical nucleus. The chromatin filaments are further condensed, and lacunae appear inside the nucleus. Some mitochondria migrate to a lateral position.

Additional Material: 20 Ill.