RP-Department of Health Management & Informatics

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Food Security Problems in Borabu Division, Nyamira District
(Food Security Problems in Borabu Division, Nyamira District, 2005-09-13) Keraka, M.
This paper highlights the food security problems in Borabu Division, Nyamira District. It focuses on the concept of the relationship between population growth and land use. Secondly, it examines the influence of changing patterns of land ownership on land use and its impact on food availability. Thirdly, the paper investigates the impact of population growth on land use highlighting such issues as land devoted to food crop production, pasture and cash crop. The paper further examines the impact o~ male out-migration on land use. Finally, the paper highlights some of the major problems associated with land use for instance, labour shortages, lack of credit facilities, type of farm implements used, overutilization of land, limited extension services, and extinction of indigenous crops. Last but not least the paper endeavours to come up with valid conclusions and recommendations regarding these problems. The data for this paper was derived from observations as a member of the Abagusii community, an intensive review of recent studies carried out in the area, and some key informants. This information has been critically examined in this paper hence it gives us a clear picture of the problems of food production in this part of Nyamira District.
Factors Influencing Diffusion of Electronic Medical Records: A Case Study in Three Healthcare Institutions in Japan
(The Health Information Management Association of Australia Limited, 2006) Otieno, G. O.; Hosoi, R.
This study examines the effect of three factors: information technology (IT) skills of healthcare workers, present status of computerisation in their organisations, and workers' attitudes on the diffusion of electronic medical records (EMRs) in the healthcare environment. Data were obtained from a self-questionnaire distributed to 390 healthcare workers. The study finds that respondents need an expanded EMR capability to include decision support systems and reminder systems, and that diffusion of EMR is heavily influenced by attitudes of healthcare workers. However, targeted training of healthcare workers is needed to foster positive attitudes about EMR, and build confidence in the benefits of these systems
Nurses' views on the use, quality and user satisfaction with electronic medical records: questionnaire development.
(Journal of Advanced Nursing, 2007) Otieno, OG; Toyama, H; Asonuma, M; Kanai - Pak, M; Naitoh K
AIM: This paper is a report of the development of an instrument to measure nurses' views on the use, quality and user satisfaction with electronic medical records systems. BACKGROUND: Use of electronic medical records systems in hospitals is steadily increasing, yet no validated instruments have assessed the effectiveness of these systems from the viewpoint of nurses. METHOD: Items were designed following a literature review based on three main constructs: use, quality and user satisfaction with electronic medical records. Reliability and validity were examined based on responses from 1,666 nurses from 42 hospitals in Japan in February 2006. Exploratory factor analysis was conducted to determine the degree to which each item within a construct was associated. The reliability of each resultant factor was computed using Cronbach's alpha coefficient. Content validity was addressed by basing the items on previous surveys and review of the instrument by a panel of nurses experienced in nursing informatics. Construct validity was examined through factor analysis and correlational analyses. FINDINGS: Extent of 'use' of electronic medical records resulted into three factors with good factor loadings, but only two had acceptable reliability. 'Quality' of electronic medical records had two factors with good factor loadings and reliability. 'User satisfaction' with electronic medical records had three factors, but only one had acceptable reliability. 'Use' and 'quality' constructs were positively correlated with 'user satisfaction'. CONCLUSION: The final instrument incorporates 34 items from the original 44-item pool. Initial validity results were positive and therefore the instrument can be used in evaluating electronic medical records in hospitals.
Sophistication of information technology in healthcare: a comparison among a sample of hospitals in Japan
(Electronic Journal of Health Informatics, 2007) Otieno, George Ochieng; Toyama, Hinako; Asonuma, Motohiro; Koide, Daisuke; Naitoh, Keiko
This study examines the level of clinical sophistication of information technology (IT) in a sample of hospitals in Japan and benchmarks the extent of clinical sophistication in Japan with the findings from similar surveys conducted at different points in time in the State of Iowa in the US and two provinces in Canada. Data for the study were collected using a validated instrument assessing three dimensions of IT sophistication: functional, technological and integration levels. Clinical areas that were assessed include patient management, patient care activities and clinical support activities. The results show that the majority of processes and activities that have been computer-ised in Japan are the basic patient management processes, such as admission, registrations and order entry systems. Telemedicine, expert systems and voice recognition systems for notes tran-scriptions were only available in less than 5% of the sample hospitals. Overall, there were no differences between the small hospitals and large hospitals in terms of functional and integration sophistication. However, large hospitals had higher technological sophistications than small hospitals. Functional sophistication was higher in Japan than Canada and the US. Technological sophistication in Japan was somewhat better than that of Canada but lower than that of the US. The results demonstrated that there exists substantial room for expanding clinical IT systems in the hospitals in Japan. Keywords: Hospital information systems, information technology, computerised medical records, system integration, medical informatics, medical technology
Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP
(Public Library of Science, 2008-03) Grant, S.F.; Li, M.; Bradfield, J.P.; Kim, C.E.; Annaiah, K.; Santa, E.; Glessner, J.T.; Casalunovo, T.; Frackelton, E.C.; Otieno, George Ochieng; Shaner, J.L.; Smith, R.M.; Imielinski, M.; Eckert, A. W.; Chiavacci, R. M.; Berkowitz, R.I.; Hakonarson, H.
Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs9939609, within the FTO locus and obesity as a consequence of a genome wide association (GWA) study of type 2 diabetes in adults. We examined the effects of two perfect surrogates for this SNP plus 11 other SNPs at this locus with respect to our childhood obesity cohort, consisting of both Caucasians and African Americans (AA). Utilizing data from our ongoing GWA study in our cohort of 418 Caucasian obese children (BMI$95th percentile), 2,270 Caucasian controls (BMI,95th percentile), 578 AA obese children and 1,424 AA controls, we investigated the association of the previously reported variation at the FTO locus with the childhood form of this disease in both ethnicities. The minor allele frequencies (MAF) of rs8050136 and rs3751812 (perfect surrogates for rs9939609 i.e. both r2 = 1) in the Caucasian cases were 0.448 and 0.443 respectively while they were 0.391 and 0.386 in Caucasian controls respectively, yielding for both an odds ratio (OR) of 1.27 (95% CI 1.08–1.47; P = 0.0022). Furthermore, the MAFs of rs8050136 and rs3751812 in the AA cases were 0.449 and 0.115 respectively while they were 0.436 and 0.090 in AA controls respectively, yielding an OR of 1.05 (95% CI 0.91–1.21; P = 0.49) and of 1.31 (95% CI 1.050–1.643; P = 0.017) respectively. Investigating all 13 SNPs present on the Illumina HumanHap550 BeadChip in this region of linkage disequilibrium, rs3751812 was the only SNP conferring significant risk in AA. We have therefore replicated and refined the association in an AA cohort and distilled a tag-SNP, rs3751812, which captures the ancestral origin of the actual mutation. As such, variants in the FTO gene confer a similar magnitude of risk of obesity to children as to their adult counterparts and appear to have a global impact.
A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study
(American Diabetes Association, 2008-04) Hakonarson, H.; Qu, H.; Bradfield, J. P.; Marchand, L.; Kim, C. E.; Glessner, J. T.; Grabs, R.; Casalunovo, T.; Taback, S. P.; Frackelton, E. C.; Eckert, A. W.; Annaiah, K.; Lawson, M. L.; Otieno, George Ochieng; Santa, E.; Shaner, J. L.; Smith, R. M.; Onyiah, C. C.; Skraban, R.; Chiavacci, R. M.; Robinson, L. J.; Stanley, C. A.; Kirsch, S. E.; Devoto, M.; Monos, D. S.; Grant, S. F. A.; Polychronakos, C.
OBJECTIVE—In stage 1 of our genome-wide association (GWA) study for type 1 diabetes, one locus at 16p13 was detected (P = 1.03 × 10−10) and confirmed in two additional cohorts. Here we describe the results of testing, in these additional cohorts, 23 loci that were next in rank of statistical significance. RESEARCH DESIGN AND METHODS—Two independent cohorts were studied. The Type 1 Diabetes Genetics Consortium replication cohort consisted of 549 families with at least one child diagnosed with diabetes (946 total affected) and DNA from both parents. The Canadian replication cohort consisted of 364 nuclear family trios with one type 1 diabetes–affected offspring and two parents (1,092 individuals). RESULTS—One locus at 12q13, with the highest statistical significance among the 23, was confirmed. It involves type 1 diabetes association with the minor allele of rs1701704 (P = 9.13 × 10−10, OR 1.25 [95% CI 1.12–1.40]). CONCLUSIONS—We have discovered a type 1 diabetes locus at 12q13 that is replicated in an independent cohort of type 1 diabetic patients and confers a type 1 diabetes risk comparable with that of the 16p13 locus we recently reported. These two loci are identical to two loci identified by the whole-genome association study of the Wellcome Trust Case-Control Consortium, a parallel independent discovery that adds further support to the validity of the GWA approach
ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry
(Elsevier, 2008-12) Sleiman, P. M. A.; Annaiah, K.; Imielinski, M.; Bradfield, J. P.; Kim, C. E.; Frackelton, E. C.; Glessner, J. T.; Eckert, A. W.; Otieno, F. G.; Santa, E.; Thomas, K.; Smith, R. M.; Glaberson, W.; Garris, M.; Gunnlaugsson, S.; Chiavacci, R. M.; Allen, J.; Spergel, J.; Grundmeier, R.; Grunstein, M. M.; Magnusson, M.; Bisgaard, H.; Grant, S. F. A.; Hakonarson, H.
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
(Cold Spring Harbor Laboratory Press, 2009-09-19) Ochieng, Otieno, George; Shaikh, T.H.; Gai, X.; Perin, J.C.; Glessner, J.T.; Casalunovo, T.; Xie, H.; Murphy, K.; O'Hara, R.; Conlin, L.K.; D'Arcy, M.; Frackelton, E.C.; Geiger, E.A.; Haldeman-Englert, C.; Imielinski, M.; Kim, C.E.; Medne, L.; Annaiah, K.; Bradfield, J.P.; Dabaghyan, E.
We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study using a uniform array platform and computational process. We have catalogued and characterized 54,462 individual CNVs, 77.8% of which were identified in multiple unrelated individuals. These nonunique CNVs mapped to 3272 distinct regions of genomic variation spanning 5.9% of the genome; 51.5% of these were previously unreported, and >85% are rare. Our annotation and analysis confirmed and extended previously reported correlations between CNVs and several genomic features such as repetitive DNA elements, segmental duplications, and genes. We demonstrate the utility of this data set in distinguishing CNVs with pathologic significance from normal variants. Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics.
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
(Elsevier, 2011) Otieno, F. G.; Lanktree, M.B.; Guo, Y.; Murtaza, M.; Glessner, J.T.
Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10(-6)), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10(-8)). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10(-11)). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait.
Knowledge and Acceptability of Pap Smears, Self-sampling and HPV Vaccination among Adult Women in Kenya.
(2012) Rositch, A. F.; Gatuguta, A.; Choi, R. Y.; Guthrie, B. L.; Mackelprang, R. D.; Bosire, R; Manyara, L.; Kiarie, J. N.; Smith, J. S.; Farquhar, C.
OBJECTIVES: Our study aimed to assess adult women's knowledge of human papillomavirus (HPV) and cervical cancer, and characterize their attitudes towards potential screening and prevention strategies. METHODS: Women were participants of an HIV-discordant couples cohort in Nairobi, Kenya. An interviewer-administered questionnaire was used to obtain information on sociodemographic status, and sexual and medical history at baseline and on knowledge and attitudes towards Pap smears, self-sampling, and HPV vaccination at study exit. RESULTS: Only 14% of the 409 women (67% HIV-positive; median age 29 years) had ever had a Pap smear prior to study enrollment and very few women had ever heard of HPV (18%). Although most women knew that Pap smears detect cervical cancer (69%), very few knew that routine Pap screening is the main way to prevent ICC (18%). Most women reported a high level of cultural acceptability for Pap smear screening and a low level of physical discomfort during Pap smear collection. In addition, over 80% of women reported that they would feel comfortable using a self-sampling device (82%) and would prefer at-home sample collection (84%). Nearly all women (94%) reported willingness to be vaccinated to prevent cervical cancer if offered at no or low cost. CONCLUSIONS: These findings highlight the need to educate women on routine use of Pap smears in the prevention of cervical cancer and demonstrate that vaccination and self-sampling would be acceptable modalities for cervical cancer prevention and screening.
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
(BioMed Central, 2013) Otieno, F. G.; Wang, Kai; Kim, Cecilia; Bradfield, Jonathan; Guo, Yunfei; Toskala, Elina; Hou, Cuiping; Thomas, Kelly; Cardinale, Christopher; Lyon, Gholson J; Golhar, Ryan; Hakonarson, Hakon
Background: Whole-exome sequencing has identified the causes of several Mendelian diseases by analyzing multiple unrelated cases, but it is more challenging to resolve the cause of extremely rare and suspected Mendelian diseases from individual families. We identified a family quartet with two children, both affected with a previously unreported disease, characterized by progressive muscular weakness and cardiomyopathy, with normal intelligence. During the course of the study, we identified one additional unrelated patient with a comparable phenotype. Methods: We performed whole-genome sequencing (Complete Genomics platform), whole-exome sequencing (Agilent SureSelect exon capture and Illumina Genome Analyzer II platform), SNP genotyping (Illumina HumanHap550 SNP array) and Sanger sequencing on blood samples, as well as RNA-Seq (Illumina HiSeq platform) on transformed lymphoblastoid cell lines. Results: From whole-genome sequence data, we identified RBCK1, a gene encoding an E3 ubiquitin-protein ligase, as the most likely candidate gene, with two protein-truncating mutations in probands in the first family. However, exome data failed to nominate RBCK1 as a candidate gene, due to poor regional coverage. Sanger sequencing identified a private homozygous splice variant in RBCK1 in the proband in the second family, yet SNP genotyping revealed a 1.2Mb copy-neutral region of homozygosity covering RBCK1. RNA-Seq confirmed aberrant splicing of RBCK1 transcripts, resulting in truncated protein products. Conclusions: While the exact mechanism by which these mutations cause disease is unknown, our study represents an example of how the combined use of whole-genome DNA and RNA sequencing can identify a disease-predisposing gene for a novel and extremely rare Mendelian diseas
Whole-genome sequencing in an autism multiplex family
(BioMed Central, 2013) Otieno, F. G.; Shi, L.; Zhang, X.; Golhar, R.; He, M.; Hou, C.; Kim, C.; Keating, B.; Lyon, G.J.; Wang, K.; Hakonarson, H.
Background: Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental disorders that affect 1 in 88 children in the US. Previous exome sequencing studies on family trios have implicated a role for rare, de-novo mutations in the pathogenesis of autism. Methods: To examine the utility of whole-genome sequencing to identify inherited disease candidate variants and genes, we sequenced two probands from a large pedigree, including two parents and eight children. We evaluated multiple analytical strategies to identify a prioritized list of candidate genes. Results: By assuming a recessive model of inheritance, we identified seven candidate genes shared by the two probands. We also evaluated a different analytical strategy that does not require the assumption of disease model, and identified a list of 59 candidate variants that may increase susceptibility to autism. Manual examination of this list identified ANK3 as the most likely candidate gene. Finally, we identified 33 prioritized non-coding variants such as those near SMG6 and COQ5, based on evolutionary constraint and experimental evidence from ENCODE. Although we were unable to confirm rigorously whether any of these genes indeed contribute to the disease, our analysis provides a prioritized shortlist for further validation studies. Conclusions: Our study represents one of the first whole-genome sequencing studies in autism leveraging a large family-based pedigree. These results provide for a discussion on the relative merits of finding de-novo mutations in sporadic cases versus finding inherited mutations in large pedigrees, in the context of neuropsychiatric and neurodevelopmental diseases.
Association between the use of biomass fuels on respiratory health of workers in food catering enterprises in Nairobi Kenya
(2013-05-06) Keraka, M.; Ochieng, Carolyne; Engelbrecht, Jacobus; Hongoro, Charles
Introduction: Indoor air pollution from biomass fuel use has been found to be responsible for more than 1.6 million annual deaths and 2.7% of the global burden of disease. This makes it the second biggest environmental contributor to ill health, behind unsafe water and sanitation. Methods: The main objective of this study was to investigate if there was any association between use of bio-fuels in food catering enterprises and respiratory health of the workers. A cross-sectional design was employed, and data collected using Qualitative and quantitative techniques. Results: The study found significantly higher prevalence of respiratory health outcomes among respondents in enterprises using biomass fuels compared to those using processed fuels. Biomass fuels are thus a major public health threat to workers in this sub-sector, and urgent intervention is required. Conclusion: The study recommends a switch from biomass fuels to processed fuels to protect the health of the workers
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population
(BioMed Central, 2014) Otieno, F. G.; Matsunami, Nori; Hensel, Charles H; Baird, Lisa; Stevens, Jeff; Otterud, Brith; Leppert, Tami; Varvil, Tena; Hadley, Dexter; Glessner, Joseph T; Pellegrino, Renata; Kim, Cecilia; Thomas, Kelly; Wang, Fengxiang; Ho, Karen; Christensen, Gerald B; Li, Dongying; Prekeris, Rytis; Lambert, Christophe G; Hakonarson, H.; Leppert, Mark F
Background: Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi-generation families to identify ASD risk genes had not been undertaken. Methods: We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population. Results: We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these variants were observed to have odds ratios greater than 1.5 in a set of 1,541 unrelated children with autism and 5,785 controls. Three variants, in the RAB11FIP5, ABP1, and JMJD7-PLA2G4B genes, each were observed in a single case and not in any controls. These variants also were not seen in public sequence databases, suggesting that they may be rare causal ASD variants. Twenty-eight additional rare variants were observed only in high-risk ASD families. Collectively, these 39 variants identify 36 genes as ASD risk genes. Segregation of sequence variants and of copy number variants previously detected in these families reveals a complex pattern, with only a RAB11FIP5 variant segregating to all affected individuals in one two-generation pedigree. Some affected individuals were found to have multiple potential risk alleles, including sequence variants and copy number variants (CNVs), suggesting that the high incidence of autism in these families could be best explained by variants at multiple loci. Conclusions: Our study is the first to use haplotype sharing to identify familial ASD risk loci. In total, we identified 39 variants in 36 genes that may confer a genetic risk of developing autism. The observation of 11 of these variants in unrelated ASD cases further supports their role as ASD risk variants
Vocal local versus pharmacological treatments for pain management in tubal ligation procedures in rural Kenya: a non-inferiority trial
(BioMed Central, 2014) Ochieng, G.O.; Keogh, Sarah C.; Fry, Kenzo; Mbugua, Edwin; Ayallo, Mark; Quinn, Heidi; Ngo, Thoai D.
Background: Vocal local (VL) is a non-pharmacological pain management technique for gynecological procedures. In Africa, it is usually used in combination with pharmacological analgesics. However, analgesics are associated with side-effects, and can be costly and subject to frequent stock-outs, particularly in remote rural settings. We compared the effectiveness of VL + local anesthesia + analgesics (the standard approach), versus VL + local anesthesia without analgesics, on pain and satisfaction levels for women undergoing tubal ligations in rural Kenya. Methods: We conducted a site-randomised non-inferiority trial of 884 women receiving TLs from 40 Marie Stopes mobile outreach sites in Kisii and Machakos Districts. Twenty sites provided VL + local anesthesia + analgesics (control), while 20 offered VL + local anesthesia without additional analgesics (intervention). Pain was measured using a validated 11-point Numeric Rating Scale; satisfaction was measured using 11-point scales. Results: A total of 461 women underwent tubal ligations with VL + local anesthesia, while 423 received tubal ligations with VL + local anesthesia + analgesics. The majority were aged ≥30 years (78%), and had >3 children (99%). In a multivariate analysis, pain during the procedure was not significantly different between the two groups. The pain score after the procedure was significantly lower in the intervention group versus the control group (by 0.40 points; p = 0.041). Satisfaction scores were equally high in both groups; 96% would recommend the procedure to a friend. Conclusion: VL + local anesthesia is as effective as VL + local anesthesia + analgesics for pain management during tubal ligation in rural Kenya. Avoiding analgesics is associated with numerous benefits including cost savings and fewer issues related to the maintenance, procurement and monitoring of restricted opioid drugs, particularly in remote low-resource settings where these systems are weak. Trial registration: Pan-African Clinical Trials Registry PACTR201304000495942
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
(2014) Otieno, F. G.; Falk, M.J.; Li, D.; Gai, X.; McCormick, E.; Place, E.; Lasorsa, F.M.; Hou, C.; Kim, C.E.; Abdel-Magid, N.; Vazquez, L.; Mentch, F.D.; Chiavacci, R. M.; Liang, J.; Liu, X.; Jiang, H.; Giannuzzi, G.; Marsh, E.D.; Yiran, G.; Tian, L.; Palmieri, F.; Hakonarson, H.
BACKGROUND: Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically and genetically heterogeneous disorders such as suspected mitochondrial disease. Here, we report results of WES and functional validation in a consanguineous Indian kindred where two siblings presented with profound developmental delay, congenital hypotonia, refractory epilepsy, abnormal myelination, fluctuating basal ganglia changes, cerebral atrophy, and reduced N-acetylaspartate (NAA). METHODS: Whole blood DNA from one affected and one unaffected sibling was captured by Agilent SureSelect Human All Exon kit and sequenced on the Illumina HiSeq2000. Mutations were validated by Sanger sequencing in all family members. Protein from wild-type and mutant fibroblasts was isolated to assess mutation effects on protein expression and enzyme activity. RESULTS: A novel SLC25A12 homozygous missense mutation, c.1058G>A; p.Arg353Gln, segregated with disease in this kindred. SLC25A12 encodes the neuronal aspartate-glutamate carrier 1 (AGC1) protein, an essential component of the neuronal malate/aspartate shuttle that transfers NADH and H(+) reducing equivalents from the cytosol to mitochondria. AGC1 activity enables neuronal export of aspartate, the glial substrate necessary for proper neuronal myelination. Recombinant mutant p.Arg353Gln AGC1 activity was reduced to 15% of wild type. One prior reported SLC25A12 mutation caused complete loss of AGC1 activity in a child with epilepsy, hypotonia, hypomyelination, and reduced brain NAA. CONCLUSIONS: These data strongly suggest that SLC25A12 disease impairs neuronal AGC1 activity. SLC25A12 sequencing should be considered in children with infantile epilepsy, congenital hypotonia, global delay, abnormal myelination, and reduced brain NAA.
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
(2014) Otieno, F. G.; Falk, M.J.; Li, D.; Gai, X.; McCormick, E.; Place, E.; Lasorsa, F.M.; Hou, C.; Kim, C.E.; Abdel-Magid, N.; Vazquez, L.; Mentch, F.D.; Chiavacci, R. M.; Liang, J.; Liu, X.; Jiang, H.; Giannuzzi, G.; Marsh, E.D.; Yiran, G.; Tian, L.; Palmieri, F.; Hakonarson, H.
BACKGROUND: Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically and genetically heterogeneous disorders such as suspected mitochondrial disease. Here, we report results of WES and functional validation in a consanguineous Indian kindred where two siblings presented with profound developmental delay, congenital hypotonia, refractory epilepsy, abnormal myelination, fluctuating basal ganglia changes, cerebral atrophy, and reduced N-acetylaspartate (NAA). METHODS: Whole blood DNA from one affected and one unaffected sibling was captured by Agilent SureSelect Human All Exon kit and sequenced on the Illumina HiSeq2000. Mutations were validated by Sanger sequencing in all family members. Protein from wild-type and mutant fibroblasts was isolated to assess mutation effects on protein expression and enzyme activity. RESULTS: A novel SLC25A12 homozygous missense mutation, c.1058G>A; p.Arg353Gln, segregated with disease in this kindred. SLC25A12 encodes the neuronal aspartate-glutamate carrier 1 (AGC1) protein, an essential component of the neuronal malate/aspartate shuttle that transfers NADH and H(+) reducing equivalents from the cytosol to mitochondria. AGC1 activity enables neuronal export of aspartate, the glial substrate necessary for proper neuronal myelination. Recombinant mutant p.Arg353Gln AGC1 activity was reduced to 15% of wild type. One prior reported SLC25A12 mutation caused complete loss of AGC1 activity in a child with epilepsy, hypotonia, hypomyelination, and reduced brain NAA. CONCLUSIONS: These data strongly suggest that SLC25A12 disease impairs neuronal AGC1 activity. SLC25A12 sequencing should be considered in children with infantile epilepsy, congenital hypotonia, global delay, abnormal myelination, and reduced brain NAA.
Performance of community health workers in Njiru District, Nairobi County, Kenya
(medicalsciencejournal, 2016) Mulingwa, Margaret W.; Cheboi, Solomon K; Oyore, John P.; Ochien’g, Otieno G.
In 2006, World Health Organization report recognized shortages of health workers as an ingredient in primary health services. In mitigation the Alma-Ata declaration of 1978 promoted the use of Community Health Workers (CHWs) to provide selected services at level one of health care services. In Kenya, CHWs workforce were adopted as a component of cost effective strategies however the performance of CHWs as change agents has been called into question. The study aimed at describing the factors which influence performance of CHWs in Njiru District, Nairobi County, Kenya through a descriptive cross-sectional survey. Mixed methods (quantitative and qualitative methods) and systematic sampling method were applied. Data was analyzed using Statistical Package for Social Science (SPSS) version 20.0. Findings showed that performance of CHWs was low (34.7%). The performance of CHWs was low in four key monthly targets (referral of patients; number of houses visited; CHWs meetings; number of Baraza but average in health education. Age, gender, marital status, community reception, religious practices, cultural norms, use of feedback, period of training, field allowance and social class were key factors in CHWs performance. From this study the implementation and realization of the key CHWs targets in Peri- urban setting is challenging, there is need therefore to develop a clear contextualized CHWs guideline tailored for Peri- urban settings.
Factors contributing to malnutrition among children under five years of age in Machakos Country Level five hospital
(wjpmr, 2017) Kishoyian, Gabriel M.; Osinyo, Yunis B.; Kishoyian, Jane N.; Otieno, George O.
Background: Child malnutrition is one of the measures of health status that the World Health Organization (WHO) recommends for equity in health. According to WHO, 60% of all deaths occurring among children aged less than 5 years in developing countries is attributed to malnutrition. To improve on this condition, it is necessary to determine the determinants of malnutrition. Methods: This was a descriptive cross-sectional study conducted at Machakos Level five hospital from mothers attending MCH/FP clinic. Using random sampling, seventy (70) mothers and their children 6 months to 60 months participated in the study. Using a questionnaire, socio demographic characteristics and weaning practices were taken as well as children anthropometric measurements (mid-upper arm circumference – MUAC). SPSS version 16.0 statistical software was used for analysis. Results: Out of the seventy children who were involved in the study, 19 (27.1%) were males while 51 (72.9%) were females. The age ranged was 8 months to 60 months. The results obtained showed that socioeconomic factor, poor nutrition and mothers’ knowledge and feeding practices led to increase in the prevalence of malnutrition. Mid Upper Arm Circumference (MUAC) was measured using non-stretchable tape on left mid upper arm with the outcome showing that 17 (24.3%) had severe malnutrition, 8(11.4%) had moderate malnutrition, 31 (44.3%) had mild malnutrition while 14 (20%) were well nourished as classified according to World Health Organization. In addition, 41 (58.6%) of children were underweight and that only 22 (31.6%) practices exclusive breastfeeding for the first six months. There was a significant association between the age of the mother and child gender, weaning age of the child and baby feeding frequency per day (p˂0.05). Discussion: The findings from this study suggest that socio-economic factors such as lack of knowledge on the cause of malnutrition child feeding weaning age and the frequency of daily baby feeding practices are predictors of malnutrition in less than five. These findings are of practical importance because they can form part of preventing programs for community. Conclusion: Feeding practices (pre-lacteal feeding and complementary feeding practice) were related to malnutrition thus, nutritional intervention program in Machakos County in Kenya should focus on these factors in order to improve child feeding.
Pattern of epidemics monitoring data reporting among health facilities in Nairobi City County, Kenya
(Kenyatta University, 2017) Muturi, S.G.; Otieno, G.; Ngatiri, G.; Muhoho, N.
Background: Weekly epidemic monitoring data reporting was adopted in Kenya after the Ministry of Health embraced Integrated Disease Surveillance and Response (IDSR) strategy from WHO - Africa region to facilitate timely detection and response to disease outbreak. The government has a reporting target of 80% but this has not been achieved by many counties including Nairobi County. Underreporting put counties at risk of untimely outbreak detection which can, in turn result in epidemic menace. There is no adequate data to explain under-reporting in Nairobi County. The aim of this study was to determine the factors associated with poor epidemic monitoring data reporting among health facilities in Nairobi County. Methods: This was a cross-sectional analytical study targeting 318 health facilities in Nairobi County, Kenya. A stratified sample of 169 health facilities was selected using simple random. Health facility records were checked for compliance to quarterly submission of reports. A self-administered questionnaire was administered to data focal persons in the health facility in order to understand background characteristics of the participants, data transmission methods at each health facility, adherence to policies, personnel and availability of data collections tools. Data was analyzed using SPSS version 17.0. Relationships among study variables were tested using Chi-square, (P < 0.05). Results: Complete reporting was recoded in a total of 47% of the health facilities within the period under review, 36% partial reporting and 17% had not reported at all. Complete reporting was higher in public facilities (74%) than in private facilities (40.8%). Non-reporting was similarly higher in private facilities (25%) particularly the clinics (33%). Among institution related factors, supervision, presence of data focal person in a health facility and data transmission methods were significantly associated with poor data reporting (P<0.001). Training and awareness of data reporting days were important individual factors which were significantly associated with poor reporting (P<0.001). Rapid response to disease outbreaks is important for control of the disease and its spread to other regions. However, with only 47% of the health facilities in Nairobi County complying with the data reporting requirements, the City is at risk of delayed response in case such outbreak occurred. There is need to streamline the system to realize, exceed and maintain the government epidemic monitoring data reporting target rate of 80%.

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