Epidemiological and genetic variables in limb reduction defects (LRD) were analysed during the years 1978 to 1987 in a case control study in Emilia Romagna, northern Italy. During the observation period, 83 neonates out of 173,109 consecutive births had LRD (4.8 per 10,000). Cases were divided into five subgroups: transverse, intercalary, longitudinal, split, and multiple types of LRD. Of all c...

Hereditary thrombocythemia is a rare autosomal dominant disorder caused by mutations in either the thrombopoietin gene (TPO) or its receptor c-MPL. TPO mutations described so far lead to thrombopoietin overproduction through increased translation of m-RNA. Unilateral transverse reduction limb defects are usually sporadic and generally thought to be caused by vascular disruptions. Reports of inh...

We read with interest the case report by Kalayci et al1 published in European Review for Medical and Pharmacological Science which suggested a possible association between prenatal rifampin exposure and the limb deformity in an infant. Although the case is well-presented and the authors assessed and ruled out various risk factors for limb deformities (placental abnormalities, diabetes mellitus,...

Tbx4 is a crucial gene in the initiation of hindlimb development and has been reported as a determinant of hindlimb identity and a presumptive direct regulator of Fgf10 in the limb. Using a conditional allele of Tbx4, we have ablated Tbx4 function before and after limb initiation. Ablation of Tbx4 before expression in the hindlimb field confirms its requirement for limb bud outgrowth. However, ...

sulfur mustard (sm) has been used as a chemical warfare agent, in the world war i and more recently during iraq-iran war in early 1980s’. its biological poisoning effect could be local or systemic and its effect depends on environmental conditions, exposed organs, and the extent and duration of exposure. it is considered as a strong alkylating agent with known mutagenic, carcinogenic effects; a...