Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We describe 34 new patients, 27 with Micro and seven with Martsolf. Patients presented with the characteristic clinical manifestations of the two syndromes, including postnatal microcephaly, congenital cataracts, microphthalmia, optic atrophy, spasticity and intellectual disability. Brain imaging showed in the majority of cases polymicrogyria, thin corpus callosum, cortical atrophy, and white matter dysmyelination. Unusual additional findings were pectus excavatum (four patients), pectus carinatum (three patients), congenital heart disease (three patients) and bilateral calcification in basal ganglia (one patient). Mutational analysis of RAB3GAP1 and RAB3GAP2 revealed 21 mutations, including 14 novel variants. RAB3GAP1 mutations were identified in 22 patients with Micro, including a deletion of the entire gene in one patient. On the other hand, RAB3GAP2 mutations were identified in two patients with Micro and all Martsolf patients. Moreover, exome sequencing unraveled a TBC1D20 mutation in an additional family with Micro syndrome. Our results expand the phenotypic and mutational spectrum associated with Micro and Martsolf syndromes. Due to the overlapped severities and genetic basis of both syndromes, we suggest to be comprehended as one entity "Micro/Martsolf spectrum" or "RAB18 deficiency."

No abstract

We report on a 2.5-month-old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q----qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies.

The earliest known description of a human sireniform foetus, quoted by Kampmeier (1927) dates back to the first century A.D. Many of the early reports were highly imaginative essays like that of Thomas Bartholin whose paper includes illustrations of a 'sirene natans' complete with mammae and webbed fingers and a picture of the monster actually swimming in the sea (Bartholin, i654). Such imaginative descriptions will have been influenced by mythical beliefs in sirens and mermaids. The Greek sirens were singing bird-women who lured sailors to their death, as described by Homer (I945 :c. Iooo B.C.) in the Odyssey and interpreted in terms of classical religious mythology by Robert Graves (I955). TIhe mermaid or water-nymph type of siren of nautical tradition originates in the mediaeval folk lore of many countries. Baring-Gould (I875) holds that they derive from early sun or moon deities of the Celtic peoples. There are several forms of mermaid legend but nearly all involve a love relationship between a mermaid or merman and a mortal, and they have inspired much fine art and literature. 2I2

Adsorption of hexavalent chromium using dried macro-alga Sargassum hornschuchii was studied under controlled laboratory conditions. Experimental parameters such as contact time, biomass dosage and pH were studied in a metal concentration of 25 mg L -1 . The adsorption of chromium was fast at the initial phase of study and gradually with time became slowly. The maximum removal percentage of chromium was statistically significant and it was found to be 99.36% at 36 hrs and pH 3 using 8 g L -1 algal dosage. Five consecutive adsorption / desorption cycles were operated on metal solution using 0.1 M NaOH and 0.1 M HCl. It was found that chromium adsorption decreased following each adsorption / desorption cycle. Results indicated the superiority of HCl for the recovery of chromium from algal biomass. The present investigation shows that the locally biosorbent Sargassum hornschuchii possesses high adsorption performance with regard to the removal of chromium from its aqueous solution.

No abstract

No abstract

No abstract