Restrictive Reciprocal Obligations: Perceptions of Parental Role in Career Choices of Sub-Saharan African Migrant Youths.

This study employed interpretivist, grounded theory method and utilized semi-structured interviews to explore how 31 African migrant high school and university students from eight sub-Saharan African representative countries and currently residing in Townsville, Australia, perceived the roles of their parents in their career development. The study findings revealed that the support (financial, social and emotional) and encouragement (sacrificial love, role modeling and guidance) received from parents underpinned the youths' perceptions of their parents as influential in their career trajectories. Though participants acknowledged their indebtedness to parents and the system that nurtured them, they faced a dilemma conforming to parental preference or personal conviction, which presented "a fork in the career decision-making road." Study findings indicate that participants' reactions and strategies for negotiating parental approval differ based on entry status and gender. Most participants, particularly those with professional entry status, conformed to their parents' career choice for fear of failure, while a few who followed their personal interests negotiated parental approval through dialogue and educating parents. Male participants with humanitarian entry status opposed their parents' career preferences and followed their own personal interests. Taken together, all participants had strong desire to obtain parental approval and whether sought early or later, the main focus for all participants was prioritizing family needs and obligations. The practical implications of these findings for all stakeholders are discussed.

Iron status predicts cognitive test performance of primary school children from Kumasi, Ghana.

BACKGROUND: Good nutritional status of school-aged children is crucial in achieving improved cognition. The objective of this study was to assess the relationship between nutritional status and cognition of school-aged children in the Kumasi metropolis, Ghana. METHODS: 389 children were selected from ten government-owned schools. Socio-demographic and anthropometric data were collected. Blood samples were collected and analyzed for nutrients levels. Dietary intakes were assessed using food frequency questionnaire and previous day's nutrients intake. Cognition test was performed using the Ravens Colored Progressive Matrix (RCPM). RESULTS: Mean age of participants was 8.9±1.4 years, mean RCPM score was 17.9±5.4. More girls scored RCPM below the 40th percentile (45.5%) than boys (33.7%), while mother's level of education significantly associated with RCPM percentiles of the children (p = 0.037). Four dietary patterns were generated from food frequency data, and scores of the second pattern, depicting vegetables, non-fruits, bread and cereals, showed a weak negative correlation (r = -0.132, p = 0.026) with previous day's dietary zinc intake. Cognitive status did not vary by anthropometric and dietary patterns. More anemic (54.4%) than non-anemic (33.3%) children were below the 40th RCPM percentile. Mean previous day's intake for folate (p<0.001), vitamin B6 (p = 0.018), iron (p<0.001), and zinc (p = 0.001) differed significantly between the cognitive test score percentiles of the children. Spearman rank correlation showed weak positive associations between RCPM score and hemoglobin (r = 0.246, p = 0.003) and serum ferritin (r = 0.176, p = 0.036). Binary regression analysis showed anemic children (aOR = 0.4; 95%CI = 0.2-0.8, p = 0.014), compared with non-anemic had decreased odds, while boys, compared with girls had increased odds (aOR = 2.0 95%CI = 1.0-4.0, p = 0.035) for scoring above the 50th RCPM percentile. CONCLUSIONS: Iron status, especially hemoglobin levels, correlated with the cognitive performance of school-aged children in the metropolis. Thus nutritional strategies aimed at reducing iron deficiency anemia are needed.

Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.

BACKGROUND: Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three-dimensional abnormality of the leg, ankle, and feet that leads to the anomalous positioning of foot and ankle joints and has an incidence of 1 per 1000 live births. OFCs and CTEV may occur together or separately in certain genetic syndromes in addition to other congenital abnormalities. Here, we sought to decipher the genetic etiology of OFC and CTEV that occurred together in six probands. METHODS: At the time of recruitment, the most clinically obvious congenital anomalies in these individuals were the OFC and CTEV. We carried out whole-exome sequencing (WES) on DNA samples from probands and available parents employing the Agilent SureSelect XT kit and Illumina HiSeq2500 platform, followed by bioinformatics analyses. WES variants were validated by clinical Sanger Sequencing. RESULTS: Of the six probands, we observed probable pathogenic genetic variants in four. In three probands with probable pathogenic genetic variants, each individual had variants in three different genes, whereas one proband had probable pathogenic variant in just one gene. In one proband, we observed variants in DIS3L2, a gene associated with Perlman syndrome. A second proband had variants in EPG5 (associated with Vici Syndrome), BARX1 and MKI67, while another proband had potentially etiologic variants in FRAS1 (associated with Fraser Syndrome 1), TCOF1 (associated with Treacher Collins Syndrome 1) and MKI67. The last proband had variants in FRAS1, PRDM16 (associated with Cardiomyopathy, dilated, 1LL/Left ventricular noncompaction 8) and CHD7 (associated with CHARGE syndrome/Hypogonadotropic hypogonadism 5 with or without anosmia). CONCLUSION: Our results suggest that clubfoot and OFCs are two congenital abnormalities that can co-occur in certain individuals with varying genetic causes and expressivity, warranting the need for deep phenotyping.

Genomic analyses in African populations identify novel risk loci for cleft palate.

Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.

A comparative study of different laboratory storage conditions for enhanced DNA analysis of crime scene soil-blood mixed sample.

Crime scene investigation is an important step in the entire criminal investigation process because this is where evidence is gathered. Blood from the perpetrator or victim of a crime can be left at crime scenes or transferred to other materials such as clothing, knives and guns. Most often, this body fluid is contaminated with soil at outdoor crime scenes but this might be the only or the most important evidence in solving a crime. This work aimed at identifying the most appropriate method of storing crime scene soil-blood mixed sample prior to analysis at the laboratory. Human blood was mixed with soil and stored at three different storage conditions (i.e., Room temperature/25°C, 4°C and -20°C). Samples stored at room temperature saw significant reduction in DNA concentration as storage time increased (P=0.001). Samples stored at 4°C saw a drastic decrease in DNA concentration just after two weeks of storage. By the eighth week of storage at 4°C, there was no detectable DNA (P=0.000). Samples stored at -20°C recorded no specific pattern in decrease or increase in DNA concentration for the entire 12week storage (P=0.324). There were full STR Profiles generated for room temperature stored samples and -20°C stored samples throughout the study. There were full, partial and null Profiles generated for 4°C stored samples depending on the sample storage duration. In conclusion, -20°C was identified as the best storage condition for soil-blood mixed sample followed by room temperature and 4°C, respectively.

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.

BACKGROUND: Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF6) (OMIM:607199) gene has been associated with the etiology of both syndromic and nonsyndromic orofacial clefts. The aim of this study was to show evidence of potentially pathogenic variants in IRF6 in orofacial clefts cohorts from Africa. METHODS: We carried out Sanger Sequencing on DNA from 184 patients with nonsyndromic orofacial clefts and 80 individuals with multiple congenital anomalies that presented with orofacial clefts. We sequenced all the nine exons of IRF6 as well as the 5' and 3' untranslated regions. In our analyses pipeline, we used various bioinformatics tools to detect and describe the potentially etiologic variants. RESULTS: We observed that potentially etiologic exonic and splice site variants were nonrandomly distributed among the nine exons of IRF6, with 92% of these variants occurring in exons 4 and 7. Novel variants were also observed in both nonsyndromic orofacial clefts (p.Glu69Lys, p.Asn185Thr, c.175-2A>C and c.1060+26C>T) and multiple congenital anomalies (p.Gly65Val, p.Lys320Asn and c.379+1G>T) patients. Our data also show evidence of compound heterozygotes that may modify phenotypes that emanate from IRF6 variants. CONCLUSIONS: This study demonstrates that exons 4 and 7 of IRF6 are mutational 'hotspots' in our cohort and that IRF6 mutants-induced orofacial clefts may be prevalent in the Africa population, however, with variable penetrance and expressivity. These observations are relevant for detection of high-risk families as well as genetic counseling. In conclusion, we have shown that there may be a need to combine both molecular and clinical evidence in the grouping of orofacial clefts into syndromic and nonsyndromic forms.

Caspase inhibitors affect the kinetics and dimensions of tracheary elements in xylogenic Zinnia (Zinnia elegans) cell cultures.

BACKGROUND: The xylem vascular system is composed of fused dead, hollow cells called tracheary elements (TEs) that originate through trans-differentiation of root and shoot cambium cells. TEs undergo autolysis as they differentiate and mature. The final stage of the formation of TEs in plants is the death of the involved cells, a process showing some similarities to programmed cell death (PCD) in animal systems. Plant proteases with functional similarity to proteases involved in mammalian apoptotic cell death (caspases) are suggested as an integral part of the core mechanism of most PCD responses in plants, but participation of plant caspase-like proteases in TE PCD has not yet been documented. RESULTS: Confocal microscopic images revealed the consecutive stages of TE formation in Zinnia cells during trans-differentiation. Application of the caspase inhibitors Z-Asp-CH2-DCB, Ac-YVAD-CMK and Ac-DEVD-CHO affected the kinetics of formation and the dimensions of the TEs resulting in a significant delay of TE formation, production of larger TEs and in elimination of the 'two-wave' pattern of TE production. DNA breakdown and appearance of TUNEL-positive nuclei was observed in xylogenic cultures and this was suppressed in the presence of caspase inhibitors. CONCLUSIONS: To the best of our knowledge this is the first report showing that caspase inhibitors can modulate the process of trans-differentiation in Zinnia xylogenic cell cultures. As caspase inhibitors are closely associated with cell death inhibition in a variety of plant systems, this suggests that the altered TE formation results from suppression of PCD. The findings presented here are a first step towards the use of appropriate PCD signalling modulators or related molecular genetic strategies to improve the hydraulic properties of xylem vessels in favour of the quality and shelf life of plants or plant parts.

Pica practice among pregnant women in the Kumasi metropolis of Ghana.

Pica, an eating disorder in which non-nutritional objects are frequently eaten, has negative health implications. Despite this, pica is less studied in many African communities where it is believed to be highly prevalent. This study therefore sought to determine the prevalence of pica and its various forms among pregnant women in Kumasi, Ghana, and the effects of education and place of residence (rural and urban) on pica practice. A random sample of pregnant women (n = 400) in rural and urban areas of Kumasi were interviewed using a questionnaire-based survey in 2008 and repeated in 2009. The results showed 47.0% of the pregnant women practising pica. Pagophagia accounted for 41.0%, followed by geophagia (29.8%), amylophagia (7.4%), plumbophagia (6.4%), and trichophagia (3.7%). Among the rural dwellers, 47.7% of the pregnant women practised pica during their pregnancies while 46.4% of the urban pregnant women engaged in the practice. Age and level of education did not significantly affect the practice of pica (P = 0.053 and P = 0.142 respectively). Also, 17.4% of the respondents identified a family member practising pica. Pica is therefore highly prevalent in pregnant women in Kumasi, with pagophagia and geophagia being the predominant types of pica.

Establishing in vitro Zinnia elegans cell suspension culture with high tracheary element differentiation.

The Zinnia elegans mesophyll cell culture is a useful system for xylogenesis studies. The system is associated with highly synchronous tracheary element (TE) differentiation, making it more suitable for molecular studies requiring larger amounts of molecular isolates, such as mRNA and proteins and for studying cellulose synthesis. There is, however, the problem of non-uniformity and significant variations in the yields of TEs (%TE). One possible cause for this variability in the %TE could be the lack of a standardized experimental protocol in various research laboratories for establishing the Zinnia culture. Mesophyll cells isolated from the first true leaves of Z. elegans var Envy seedlings of approximately 14 days old were cultured in vitro and differentiated into TEs. The xylogenic culture medium was supplied with 1mg/l each of benzylaminopurine (BA) and alpha-naphthalene acetic acid (NAA). Application of this improved culture method resulted in stable and reproducible amounts of TE as high as 76% in the Zinnia culture. The increase was mainly due to conditioning of the mesophyll cell culture and adjustments of the phytohormonal balance in the cultures. Also, certain biochemical and cytological methods have been shown to reliably monitor progress of TE differentiation. We conclude that, with the adoption of current improvement in the xylogenic Z. elegans culture, higher amounts of tracheary elements can be produced. This successful outcome raises the potential of the Zinnia system as a suitable model for cellulose and xylogenesis research.