Whole-exome sequencing in an isolated population from the Dalmatian island of Vis

We have whole-exome sequenced 176 individuals from the isolated population of the island of Vis in Croatia in order to describe exonic variation architecture. We found 290 577 single nucleotide variants (SNVs), 65% of which are singletons, low frequency or rare variants. A total of 25 430 (9%) SNVs are novel, previously not catalogued in NHLBI GO Exome Sequencing Project, UK10K-Generation Scotland, 1000Genomes Project, ExAC or NCBI Reference Assembly dbSNP. The majority of these variants (76%) are singletons. Comparable to data obtained from UK10K-Generation Scotland that were sequenced and analysed using the same protocols, we detected an enrichment of potentially damaging variants (non-synonymous and loss-of-function) in the low frequency and common variant categories. On average 115 (range 93–140) genotypes with loss-of-function variants, 23 (15–34) of which were homozygous, were identified per person. The landscape of loss-of-function variants across an exome revealed that variants mainly accumulated in genes on the xenobiotic-related pathways, of which majority coded for enzymes. The frequency of loss-of-function variants was additionally increased in Vis runs of homozygosity regions where variants mainly affected signalling pathways. This work confirms the isolate status of Vis population by means of whole-exome sequence and reveals the pattern of loss-of-function mutations, which resembles the trails of adaptive evolution that were found in other species. By cataloguing the exomic variants and describing the allelic structure of the Vis population, this study will serve as a valuable resource for future genetic studies of human diseases, population genetics and evolution in this population.     

A case of sarcomatoid carcinoma of the skin

We describe the histological and immunocytochemical findings of an exophytic cutaneous tumour with mixed features of atypical fibroxanthoma (AFX) and basal cell carcinoma (BCC). A 73-year-old woman presented with a rapidly growing tumour measuring 35 mm in diameter and 10 mm in height on the left forearm. The tumour was excised and histology revealed a biphasic tumour with a pleomorphic spindle cell component and an associated tumour composed of discrete islands of atypical basaloid cells with peripheral palisading consistent with BCC. The two tumours merged into each other at one point. The spindle cell tumour showed a positive immunocytochemical reaction to fibrohistiocytic marker of KP-1 (CD68) and a negative immunocytochemical reaction to AE1/AE3, CAM5.2, S-100 and HMB-45, features consistent with AFX. Immunocytochemistry of the basaloid tumour showed a positive reaction to epithelial markers AE1/AE3 and CAM5.2, and a negative reaction to S-100, HMB-45 and KP-1 (CD68). To date, 15 cases of primary cutaneous carcinosarcoma have been reported in the literature. It has been postulated that these tumours may originate from undifferentiated progenitor cells capable of producing multiple cell lines.     

Knowledge and risk factors of intestinal parasitic infections among women in Makurdi,Benue State

ObjectiveTo assess women's perceptions and risk factors that could expose them to intestinal parasitic infections in Makurdi, Benue State, Nigeria.MethodsA total of 750 faecal samples were collected from women at different reproductive stages (pre-menstrual, menstrual and post-menstrual), and the faeces were tested by the formol ether concentration technique.ResultsA total of 426 (56.8%) samples were found positive for various intestinal parasites with hookworm (4.8%), Ascaris lumbricoides (9.3%), Taenia sp (2.1%), Entamoeba histolytica (18.9%) and Entamoeba coli (21.6%). Women at pre-menstrual and post-menstrual stages recorded higher prevalence rates with 72.8% and 63.9%, respectively. No significant difference in prevalence was observed between women at different reproductive stages and women infected by different parasites (χ² = 30.6, P > 0.05). Sweet things, rotten fruits and improperly cooked meat were perceived as the causes of intestinal parasitic infections among the pre and post menstrual women. Sources of drinking water like river, well, water bought from vendors and patronizing food vendors were observed as risk factors contributing to the prevalence of intestinal parasitic infections among women. Factors like not washing hands before eating and after defaecation, use of leaves and ordinary papers for cleaning after defaecation were also observed to be contributing to the prevalence of intestinal parasitic infections.ConclusionsPersuasive health education and rigorous hygiene measures should be employed in schools, maternity clinics and among the populace to reduce transmission and infection with intestinal parasites.     

Bullet and Blast ENT Injuries in Counter-Insurgency Area

Background

Many ENT injuries are not recognized easily, but they have the potential of increasing the morbidity.

Methods

ENT injuries managed in two tertiary care Level-IV hospitals between 2006 and 2007 were studied with a view to formulate strategy in efficient management of these cases.

Result

Emergency bags did not carry readymade packs to control nasal bleeds. Routinely screening of ears in all blast injury cases in the ‘Blast Injury Program’ helped in early identification of hearing loss. Lack of sufficient stenting of nasal cavities resulted in severe nasal stenosis which was difficult to repair. Splinters lodged in pharyngeal wall escaped detection, resulting in concealed haemorrhage and shock.

Conclusion

Nasal packs and epistaxis catheters must be included in emergency bags to minimize blood loss at first contact. Screening for ear trauma in all blast injuries increases detection rate and is beneficial to the soldier. Stenting of injured nasal cavities and early transfer to a tertiary care hospital could reduce morbidity. Plain radiography of head and neck areas could help detect splinters in vital areas and guide management.Key Words: Combat injuries ENT, Blast injuries ear