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.     

Surgery of aneurysm of the thoracic aorta. Operative results in 47 cases (author's transl)

The authors report personal experience of surgical treatment of 47 aneurysms of the thoracic aorta, showing that the symptoms, the etiology, the treatment and the prognosis are variable depending on the site of the aneurysm. One may note regression of syphilis as a cause and an increase in the number of degenerative and traumatic aneurysms. In aneurysms of the ascending aorta, total replacement of the ascending aorta with reimplantation of the coronary arteries, according to a simplified technic, seems to give the best immediate and long term results.     

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.     

Congenital renal dysplasia: Osathanondh-Potter type ii polycystic kidneys.

Congenital renal dysplasia represents a group of nonhereditary kidney malformations frequently encountered in infants and children. The dysplasia may involve one or both kidneys totally or segmentally. The clinical presentation and prognosis depend on the extent of renal involvement and further development of the dysplastic renal tissue as well as the severity of coexisting malformations in other organs. The unifying factor in each instance is the characteristic histologic appearance of the dysplastic renal tissue. Congenital multicystic kidney and multilocular renal cyst are the best known members of the group. Radiologic features in conjunction with the clinical picture can suggest the correct diagnosis in most cases.     

Inhibition of intraocular fibrin formation after infusion of low-molecular-weight heparin during combined phacoemulsification-trabeculectomy surgery

PURPOSE: To evaluate the effect of intraocular infusion of dalteparin, a low-molecular-weight heparin (LMWH) administered in the infusion fluid to prevent early postoperative fibrin formation in combined phacoemulsification-trabeculectomy surgery (phacotrabeculectomy). SETTING: Farabi Eye Hospital, Tehran, Iran. METHODS: Standard combined phacotrabeculectomy was performed prospectively in a masked fashion in 60 eyes; 35 eyes received 5 IU/mL LMWH in the infusate and 25 eyes served as controls. Masked postoperative examinations assessed visual acuity, intraocular pressure (IOP), anterior chamber cell and flare, and fibrin formation with slitlamp examinations 1, 3, 7, 30, and 90 days after surgery. RESULTS: The rate of intraocular fibrin/membrane formation was significantly lower in the LMWH group than in the control group at each follow-up (P<.001, Student t test) . The amount of IOP was lower in LMWH group at each follow up (P<.01, Student t test). Final visual acuity was better in LMWH group (P = .03, Student t test). The frequency of synechia formation was lower in the LMWH group on day 90 (P = .002, chi-square test). CONCLUSIONS: Infusion of dalteparin, a LMWH, may be an effective inhibitor of postoperative fibrin formation in phacotrabeculectomy surgery. It may reduce the frequency of synechia formation and improve visual acuity. It may not be associated with increased risk for intraoperative or postoperative complications at the tested dose. This drug may be a useful adjunct in combined surgery.     

Thrombin-induced secretion of serotonin from platelets can occur in seconds

The platelet release reaction was studied by a new quenched-flow approach. Platelets labeled with 14C-serotonin were reacted for short times (up to 5 sec) with thrombin and then quenched with glutaraldehyde or paraformaldehyde. Serotonin secretion began within 1 sec and was nearly complete by 4 sec. Aggregation recorded by a resistive-particle counter was similarly fast. Therefore, the quenched-flow system reveals that serotonin secretion can occur more rapidly than estimated in earlier studies.