A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed...

Hop-sterile (hop) is a new mutation in the mouse, the effects of which include complete male sterility, a 'hopping' gait and preaxial polydactyly of all feet. Ultrastructural studies of spermiogenesis show that sperm tails are absent or highly modified. Second meiotic division is frequently abnormal or incomplete, often with four centrioles per cell. These centrioles usually fail to form fiagel...

We develop the analogue in equal positive characteristic of Fontaine’s theory for crystalline Galois representations of a p-adic field. In particular we describe the analogue of Fontaine’s mysterious functor which assigns to a crystalline Galois representation a Hodge filtration. In equal characteristic the role of the Hodge filtrations is played by Hodge-Pink structures. The later were invente...

INTRODUCTION Many fetal malformations can occur because of maternal diabetes. However, ambiguous genital organs have never been reported as an associated finding in the literature. This is the first report of associated ambiguous genital organ and bilateral adrenal hyperplasia in a case of diabetic fetopathy. CASE PRESENTATION A 19-year-old Thai primigravida with familial history of diabetes ...

Patterning of the limb anterior-posterior axes depends on several signals that derive from the three signaling centers of the limb bud. These signals interact to constitute a complex and ordered network that critically contributes to the development of limb buds. Preaxial polydactyly in mouse is predominantly caused by ectopic expression of the zone of polarizing activity or Sonic hedgehog in t...

The operation method for thumb polydactyly has developed from simple removal, and it has become the standard procedure at present to collect parts to be used from each of the components and reconstruct one thumb. Traditionally this has been accomplished by the bisecting and joining procedure, known as Bilhaut-Cloquet's method, for the distal phalangeal type, and by the extended bisecting and jo...

The mouse mutants of the hemimelia-luxate group (lx, lu, lst, Dh, Xt, and the more recently identified Hx, Xpl and Rim4; [1] [2] [3] [4] [5]) have in common preaxial polydactyly and longbone abnormalities. Associated with the duplication of digits are changes in the regulation of development of the anterior limb bud resulting in ectopic expression of signalling components such as Sonic hedgehog...

Introduction 641 1. Breuil-Mézard conjecture and the p-adic local Langlands 644 (1.1) The Breuil-Mézard conjecture 644 (1.2) Review of Colmez’s functor 647 (1.3) Hilbert-Samuel multiplicities 650 (1.4) Representations and pseudo-representations 653 (1.5) GL2(Qp)-representations mod p. 657 (1.6) Local patching and multiplicities 661 (1.7) From pseudo-representations to representations 669 2. Mod...

We have explored the potential energy profiles of TpT dinucleotides toward formation of a DNA photolesion product, spore photoproduct (SP), along the S(0), S(1), and T(1) states, by means of density functional theory and time-dependent density functional theory. Together with the spin density analysis, the consecutive mechanism for the SP formation can be established. The detailed reaction path...

Much work has gone into matrix representations of Galois groups, but there is a whole new class of naturally occurring representations that have as yet gone almost unnoticed. In fact, it is well-known in various areas of mathematics that the main sources of totally disconnected groups are matrix groups over local fields AND automorphism groups of locally finite trees [12]. It is perhaps surpris...