The 2009 Annual Meeting of the International Pachyonychia Congenita Consortium (IPCC)* centered on the need to develop patient-friendly technologies to effectively and efficiently deliver nucleic acids to skin. The IPCC is a group of physicians and scientists who have agreed to work together to develop therapeutics for the rare skin disorder pachyonychia congenita (PC) (a list of IPCC members c...

BACKGROUND Pachyonychia congenita (PC) is a genodermatosis caused by mutations in 1 of 4 known keratin genes, including KRT6A, KRT6B, KRT16, or KRT17. The most common mode of inheritance is autosomal dominant. Families with an affected parent are routinely counseled about the 50% transmission risk to each offspring. In some cases, families with a rare disorder like PC can initially present with...

shwaehman syndrome, next to cystic fibrosis, is the second cause of congenita! exocrine pancreatic insufficiency in children. it appears as steatorrhea, recurrent infections and hematologic abnormalities such as neutropenia, skeletal dysplasia and short stature. in this study, we reviewed 3 patients' histories. all of them showed cellular chemotaxic defect. one of them had been affected by neph...

Pachyonychia congenita (PC) is an autosomal-dominant keratin disorder where the most painful, debilitating aspect is plantar keratoderma. PC is caused by mutations in one of four keratin genes; however, most patients carry K6a mutations. Knockout mouse studies suggest that ablation of one of the several K6 genes can be tolerated owing to compensatory expression of the others. Here, we have deve...

poisoning remains a major cause of hospital admission into the emergency department and intensive care unit. proper diagnosis is the cornerstone for optimal management of poisoned patients. since the definitive analytical confirmation of the nature of the toxicant involved in the poisoning cannot be rapidly obtained in the majority of healthcare facilities, diagnosis relies on the medical histo...

klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  x  chromosome  in  male  karyotype  (46,xy).  up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel incisors, occlusal anomalies and increased permanent tooth size have been reported. a case of klinefelter syndrome with very rare dental feature...

The sources of forgetting in working memory remain the matter of intense debate. According to the SOB model (serial order in a box; Farrell & Lewandowsky, 2002), forgetting in complex span tasks does not result from temporal decay but from interference produced by the encoding of distractors that are superimposed over memory items onto a composite memory. The main tenet of the model is that the...

1. Paramyotonia congenita (PC) is a human hereditary disorder wherein missense mutations in the skeletal muscle sodium channel lead to cold-exacerbated muscle hyperexcitability. The most common site for PC mutations is the outermost arginine of domain i.v. segment 4 (human R1448, rat R1441). 2. We examined the rat homologues of two PC mutants with changes at this site: R1441P and R1441C. The R-...