Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study.

The localization of the protein dystrophin was studied using the immunofluorescence method, in muscle biopsies from 74 patients affected by different types of muscular dystrophy and 4 normal controls. In 15 patients with limb-girdle muscular dystrophy (LGMD) the pattern was indistinguishable from normal. Among 42 Duchenne patients (DMD), 3 were totally negative and 39 showed a variable proportion (4-30%) of partially labelled fibers.

[Incisura scapulae syndrome].

The suprascapular nerve may rarely be entrapped in the suprascapular notch. This causes weakness of the supra- and infraspinatus muscles and pain in the glenohumeral and acromioclavicular joints, which are innervated by this nerve. The entrapment syndrome may result from direct or indirect trauma, fracture of the neck of the scapula, kinking or traction on a sling affecting the nerve, from the shape of the notch, compression by a ganglion, or its cause may be idiopathic.

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.

We have analysed 38 DMD patients from 34 families and 30 BMD patients from 12 families using the cDNA probes Cf23a and Cf56a, which map near the centre of the dystrophin gene, and Cf115, which is close to the 3' end of this gene. Together, probes Cf23a and Cf56a detected deletions in 50% of the DMD families and 33% of the BMD families. Probe Cf115 detected a deletion in only one DMD patient, which has not been reported before in severe X linked myopathy.

Nocturnal rhythm of growth hormone in Duchenne patients: effect of different doses of mazindol and/or cyproheptadine.

Human growth hormone (hGH) inhibition may be beneficial for Duchenne muscular dystrophy (DMD) patients and slow the rate of progression of the disease. The purpose of the present investigation was 1) to assess, before any therapeutic trial, the natural growth hormone (GH) rhythm during physiological sleep in DMD patients and in normal control boys of comparable age; 2) to evaluate the effect of different doses of two potential GH inhibitors on nocturnal GH secretion in DMD patients receiving mazindol (1-4 mg), cyproheptadine (4-8 mg), or both drugs. The results from the present investigation showed 1) wide variability in nocturnal GH secretion before medication; 2) no correlation between nocturnal GH concentration and height, age, bone age, L-dopa provocative test, or Tanner staging; and 3) no consistent effect on GH release after mazindol, cyproheptadine therapy, or combined therapy.

Quantitative aspects of synaptic ribbon formation in the outer plexiform layer of the developing cat retina.

The development of synaptic ribbons in rod and cone photoreceptor terminals of the cat retina was studied using quantitative electron microscopy. At the region of the area centralis, synaptic ribbon profiles are initially recognized at PCD (postconception day) 59. Synaptic ribbon density increases rapidly, reaching a peak of 0.

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.

The aim of the present report was to estimate the proportion of autosomal recessive (AR) inheritance among families with affected males diagnosed as Duchenne muscular dystrophy (DMD) in which X-linked inheritance could not be confirmed. A total of 470 families was studied: 20 with at least one affected girl with "Duchenne-like" phenotype and 450 with only affected boys. Based on the number of families with at least one affected girl and the number of patients per sibship among these pedigrees, the proportion of families with DMD inherited as an AR trait was estimated at 6.

Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy.

Human growth hormone (HGH) inhibition may be beneficial in Duchenne muscular dystrophy (DMD) and slow down the rate of progression of the disease. The purposes of the present investigation were: 1) to assess, through pharmacological stimuli (L-dopa test), the HGH response in untreated DMD patients, and 2) to evaluate the inhibitory effect of mazindol on HGH levels as a potential treatment for DMD. In 55 DMD patients, HGH levels were measured through the L-dopa test, and 40 received mazindol.

Genetic and environmental components of serum creatine kinase (CK) and pyruvate kinase (PK) in normal twins: implication for genetic risks estimates in Duchenne muscular dystrophy carriers.

The serum activity of creatine kinase (CK) and pyruvate kinase (PK) was measured in 98 pairs of same-sex Brazilian twins. The purpose of this study was to estimate the genetic and environmental components of serum activity levels for both enzymes. Heritabilities were estimated separately by path analysis in each sex.

Relation between height and clinical course in Duchenne muscular dystrophy.

We have evaluated the relation between height and rate of clinical progression in boys with Duchenne muscular dystrophy (DMD). In all, 111 DMD patients with age ranging from 2 to 23 years (mean 8.2 +/- 3.

The periphery effect in cat retinal ganglion cells: variation with functional class and eccentricity.

We have studied the responses of ganglion cells of the cat retina to visual stimulation remote from the center of their receptive field. Following previous work, this response is termed the periphery effect (PE). Cells were identified as Y-, X- or W-class from the latency of their response to optic chiasm stimulation and from their receptive field properties.

Primary hyperparathyroidism in children.

We present here a series of seven children with primary hyperparathyroidism caused by parathyroid adenoma. Chief cells were the primary element in six patients and water-clear cells in one patient. A brief review of the literature on primary hyperparathyroidism in children is included.

Cytogenesis in the developing retina of the cat.

Cytogenesis in the cat retina was studied using tritiated (3H) thymidine autoradiography and nuclear stains. Three zones of cell division were recognized. In the first zone cell cleavage occurs at the outer limiting membrane.

Cell division in the developing cat retina occurs in two zones.

Cytogenesis in the kitten retina has been investigated with [3H]thymidine autoradiography and a stain for mitotic figures. The nuclei of cells in S-phase are located adjacent to the inner margin of the cytoblast layer, near the inner plexiform layer. The nuclei then migrate toward the outer limiting membrane (OLM) to divide.

The site of commencement of retinal maturation in the rabbit.

In the developing retina of the rabbit the ganglion cell layer can first be identified between E(embryonic day) 20 and 24, but the regional variations found in the adult retina, particularly the visual streak, are not well developed until shortly before birth. At about E31, the last day of gestation, the laminar structure of the retina begins to mature, cytogenesis begins to cease and the outer plexiform layer starts to form. These processes commence in far temporal retina, at or near the site of the area centralis, and spread preferentially along the visual streak.

The area centralis of the retina in the cat and other mammals: focal point for function and development of the visual system.

In many mammals, particularly species with frontalised eyes, a small region o retina is strongly specialised for high resolution, binocular vision. The region is typically located near the centre of the retina, a few millimetres temporal to the optic disc, and is termed the "area centralis" or, in some primates in which the specialisation is particularly well developed, the "fovea centralis". Where the specialisation is well developed, the area or fovea centralis dominates the organisation of the adult visual system.

Time course of morphological differentiation of cat retinal ganglion cells: influences on soma size.

We have examined the growth of ganglion cell somas during development of the cat's retina. Until approximately E (embryonic day) 50, ganglion cell somas show no sign of the several variations in their size apparent in the adult. At about E50, the somas begin to accumulate granular cytoplasm.

The topography of cytogenesis in the developing retina of the cat.

We have studied the pattern of cytogenesis in the developing retina of the cat, by observing mitotic cells in sections and whole mounts of the retinae of animals between the ages of E (embryonic day) 29 and P (postnatal day) 20. The whole mounts were prepared with the mitotic or ventricular layer uppermost; all of the mitotic cells in this layer could then be surveyed. In retinae from animals up to E46, mitotic cells were present in the ventricular layer at densities of 1000 to 3000 cells/mm2, and their density did not vary consistently with position in the retina.

Retinal ganglion cell size groups projecting to the superior colliculus and the dorsal lateral geniculate nucleus in the North American opossum.

The retinal ganglion cells projecting to the superior colliculus (SC) and dorsal lateral geniculate nucleus (LGNd) of the North American opossum (Didelphis virginiana) were studied by using the retrograde transport of horseradish peroxidase (HRP). The four ganglion cell size groups recognized previously were found to project in systematically different ways. After injections of HRP into the superior colliculus, labeled cells were seen in nasal retina contralateral to the injection and in temporal retina both ipsilateral and contralateral to the injection.

The site of commencement of maturation in mammalian retina: observations in the cat.

The outer plexiform layer (OPL) of the retina has been studied in the developing cat, from E (embryonic day) 30. Prior to E51 the layer could not be detected, the retina comprising two cell layers, an inner layer which becomes the ganglion cell layer of the adult, and an outer 'neuroblast' layer. The OPL was first detected at E51 as a narrow gap separating the neuroblast layer into inner and outer parts, which will form the inner and outer nuclear layers of the adult.