Coexistence of late spondyloepiphyseal dysplasia and congenital megaloblastic anemia with proteinuria in the same family

A case of spondyloepiphyseal dysplasia tarda was noted in a dwarf (130 cm tall) 18 years old boy associated with congenital megaloblastic anemia and proteinuria. His two sisters and a cousin are also suffering from similar hematologic disorder. One of his brothers, 145 cm tall, is also involved by spondyloepiphyseal dysplasia, but there is no known hematologic abnormalities. Review of family history revealed that two aunts from mother's side were deceased in adulthood following a chronic anemic disease. The findings in this anemia are compatible with Imerslund-Grasbech syndrome and coexistence of these two rare genetic disorders in a single family has not been reported previously.     

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

We report a novel mutation in the amyloid precursor protein gene (APP I716V) which probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s. Cells transfected with cDNAs bearing this mutation produce more A beta 1-42(43) than those transfected with wild-type APP and this effect is additive with that of the previously reported APP V717I mutation thus providing a novel approach for further increasing A beta 1-42(43) in model systems.      

Losartan antagonism of angiotensin-II-induced potassium secretion across rat colon

 The effect of angiotensin II (ANG II) on potassium transport across the short-circuited rat distal colon was investigated using ⁸⁶Rb⁺ as a tracer for unidirectional K⁺ fluxes. The addition of high concentrations of ANG II (≥10^–6 M) to the serosal bathing solution had no effect on the mucosal to serosal flux of Rb⁺, but significantly increased the serosal to mucosal flux and abolished the basal net absorptive Rb⁺ flux. These ANG-II-induced alterations in Rb⁺ transport were blocked by the AT₁ receptor antagonist losartan and its metabolite EXP3174, which is also known to have AT₁ receptor antagonistic activity. In contrast, an AT₂ receptor antagonist, PD123319, did not prevent the alterations in colonic Rb⁺ transport induced by ANG II in vitro. At lower bath concentrations (10^–7 M to 10^–10 M ), ANG II had no measurable effects on Rb⁺ transport across this tissue but ANG II did have a bimodal effect on short-circuit current (I _sc), indicating additional effects on the electrogenic transport of other ions. Dose-dependent reductions in I _sc were observed between 10^–7 M (↓ΔI _sc=1.96±0.49 μEq·cm^–2·h^–1, n=6) and 10^–10 M (↓ΔI _sc=0.16±0.19 μEq·cm^–2·h^–1, n=7) ANG II, whereas I _sc was increased at the higher concentrations (↑ΔI _sc= 3.36±0.52 μEq·cm^–2·h^–1, n=7, at 10^–4 M). The ANG-II-induced increases and decreases in I _sc were both blocked by losartan but not by PD123319. These studies are the first to demonstrate an effect of ANG II on K⁺ transport across rat colon that is independent of aldosterone and mediated by AT₁ receptors. Received: 13 March 1998 Received after revision and accepted: 26 May 1998     

Otosclerosis and pregnancy: a study of the influence of pregnancy on the hearing threshold before and after stapedectomy

In a retrospective study of 144 fertile women subjected to operation for otosclerosis by the method of Shea or House, we found a fall in the hearing threshold in the operated ear which seemed to be a little greater in the patients who became pregnant after the operation than in those who did not. However, the hearing loss was significantly greater in the non-operated ear in the patients who became pregnant after the operation than in those who did not.     

Preoperative sonographic diagnosis of appendiceal intussusception: A case report

Appendiceal intussusception is an uncommon form of intussusception. Most of the literature regarding appendiceal intussusception discusses the colonoscopic diagnosis or surgical treatment of the condition. Sonographic findings have rarely been described. We present a case of preoperative sonographic diagnosis of appendiceal intussusception. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound 2009