Camptomelic dysplasia. Apropos of a case

A new case of campomelic dysplasia is reported, probably the first in Africa, with several remarkable points which might suggest an hypothetic embryopathy.     

X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis

An unusual family is described with a congenital bleeding disorder present in four males belonging to three generations. Of the three surviving affected males, all had splenomegaly and petechiae. The three had moderate thrombocytopenia (55-90 X 10(9)/liter) and markedly prolonged Ivy-template bleeding times (greater than 30 min). They were also noted to have reticulocytosis and, upon further investigation, imbalanced globin chain synthesis resembling that of beta-thalassemia minor. Studies on nine additional family members in four generations were normal except for slight elevations of reticulocyte counts in female members, one of whom had the abnormal globin chain synthesis ratio. In male members, the bleeding tendency and clinical signs always occurred in the presence of the globin chain synthesis defect and reticulocytosis. This previously undescribed condition was apparently transmitted as an X-linked disorder.     

Histopathology of essential fatty acid-deficient mice.

This histological study reports the pathological findings in mice deficient in essential fatty acids (EFAD). As shown by others, hyperplasia and hyperkeratosis were observed in skin. In addition, we reported hyperkeratosis of the esophagus and forestomach, severe degrees of atrophy of the seminal epithelium of testes, and diminution of the luminal content of epididymis, and the formation of clusters of lipid-laden macrophages in lungs. Hyperemia was also a systemic change in many organs. These alterations have not been reported in EFAD mice previously.     

Chemokine expression and leucocyte infiltration in Sjogren's syndrome

OBJECTIVE: To investigate the expression and source of chemokines in minor salivary gland biopsies (MSGs) in patients with Sjogren's syndrome (SS). METHODS: Immunohistochemical analysis was used to determine the pattern of chemokine expression in MSGs from patients with (n=6) and without (n=5) SS, as well as to examine the phenotype of both resident and infiltrating cells expressing chemokines. RESULTS: Significant differences in the number of infiltrating mononuclear (MN) cells in patients with and without SS were noted. Ductal epithelial cells of SS biopsies expressed significantly increased levels of macrophage inflammatory protein (MIP)-1alpha, MIP-1beta, interleukin-8 (IL-8) and RANTES (Regulated upon Activation, Normal T cell Expressed and Secreted). Biopsies from patients with SS showed that MIP-1beta was expressed by 51% of infiltrating cells, while 41% expressed MIP-1alpha, whereas 22 and 7% expressed RANTES and IL-8, respectively. CONCLUSION: Chemokines expressed by ductal epithelial cells may attract circulating leucocytes, in particular CD4+ T cells, towards the site of inflammation, thereby orchestrating the influx of MN cells characteristically seen in MSGs in SS. Chemokines may be induced directly by a putative triggering agent for SS, or secondary to the release of pro-inflammatory cytokines produced by epithelial cells. These findings further implicate epithelial cells as playing a major role in the pathogenesis of SS and implicate chemokines in the leucocyte recruitment in this setting.      

Spinning top urethra: not a normal variant

Spinning top urethra (STU) is a term used to describe a widened posterior urethra seen mainly in girls. It is commonly regarded as a normal variant. The authors studied 30 girls with STU using videourodynamics. Twenty-eight showed bladder instability; 21, a congenital wide bladder neck anomaly; and 20, both instability and a wide bladder neck. One patient had a sensitive bladder. All patients had a urodynamic abnormality. The authors believe that the STU is nearly always an indication of bladder instability or wide bladder neck anomaly. The most common mechanism for the dilatation of the posterior urethra is that unstable contractions are resisted by a voluntary increase in distal sphincter tension so as to prevent leakage of urine. The resulting pressure rise produces distention of the posterior urethra, which will be maximal in subjects with a weak bladder neck mechanism as in the congenital wide bladder neck anomaly. The authors believe that STU is seldom if ever a normal variant.     

Increased proliferation of the epithelium of the proximal alimentary tract of EFA-deficient rats: A light and electron microscopy study

Rats of a Wistar strain fed a lipid-poor diet which is deficient in essential fatty acids (EFA) developed hyperkeratosis and increased cell proliferation of the stratified squamous epithelium of the upper alimentary tract. The frequency and severity of hyperkeratosis was significantly increased in the forestomach in both male and female EFA-deficient rats but, in the esophagus, only in the male, whereas hyperkeratosis was not seen in mouth epithelium. In EFA-deficient rats, the mitotic index was increased in the epithelium of palate and tongue (P < 0.001), as well as in esophagus (P < 0.025) and forestomach (P < 0.005). Sex-linked differences in the mitotic index were noted, being higher in female than in male rats, in both control and experimental animals. Electron microscopy showed that in the epithelium of the forestomach of the EFA-deficient rat the squamous cells presented decreased number of desmosomes, widening of the intercellular spaces, diminution of surface folds, and increased binding of ruthenium red. This suggested that the surface of these cells was altered in the EFA-deficient condition. Present observations indicated that cell proliferation and differentiation of the stratified squamous epithelium of the upper alimentary tract are upset in various degrees in EFA-deficient rats.