In total, 28 families were analyzed, and mutations were identified in 20 (71%) of them. Despite considerable locus heterogeneity, a high mutation identification rate was achieved by sequencing a limited number of major cataract genes. Provided these results are representative of Western European populations, the applied sequencing strategy seems to be suitable for the exploration of the large group of isolated cataracts with unknown etiology.

The efficient progress in nanotechnology has transformed many aspects of food science and the food industry with enhanced investment and market share. Recent advances in nanomaterials and nanodevices such as nanosensors, nano-emulsions, nanopesticides or nanocapsules are intended to bring about innovative applications in the food industry. In this review, the current applications of nanotechnology for packaging, processing, and the enhancement of the nutritional value and shelf life of foods are targeted. In addition, the functionality and applicability of food-related nanotechnologies are also highlighted and critically discussed in order to provide an insight into the development and evaluation of the safety of nanotechnology in the food industry.

Leishmaniasis is a widely distributed protozoan vector-born disease affecting almost 350 million people. Initially, chemotherapeutic drugs were employed for leishmania treatment but they had toxic side effects. Various nanotechnology-based techniques and products have emerged as anti-leishmanial drugs, including liposomes, lipid nano-capsules, metal and metallic oxide nanoparticles, polymeric nanoparticles, nanotubes and nanovaccines, due to their unique properties, such as bioavailability, lowered toxicity, targeted drug delivery, and biodegradability. Many new studies have emerged with nanoparticles serving as promising therapeutic agent for anti-leishmanial disease treatment. Liposomal Amphotericin B (AmB) is one of the successful nano-based drugs with high efficacy and negligible toxicity. A new nanovaccine concept has been studied as a carrier for targeted delivery. This review discusses different nanotechnology-based techniques, materials, and their efficacies in leishmaniasis treatment and their futuristic improvements.

Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational spectra, we have analyzed 57 consanguine Pakistani MCPH families. In 34 MCPH families, we detected linkage to five out of the eight well-characterized disease loci and identified mutations in 27 families, leaving seven families without mutations in the coding exons of the presumably underlying MCPH genes. In the MCPH cohort 23 families could not be linked to any of the known loci, pointing to remarkable locus heterogeneity. The majority of mutations were found in ASPM followed by WDR62, CENPJ, CEP152 and MCPH1. One ASPM mutation (p.Trp1326*) was found in as many as eight families suggesting a Pakistani founder mutation. One third of the families were linked to ASPM followed by WDR62 confirming previous data. We identified three novel ASPM mutations, four novel WDR62 mutations, one novel MCPH1 mutation and two novel CEP152 mutations. CEP152 mutations have not been described before in the Pakistani population.