Pengaruh Pemberian Biskuit Tepung Ikan Mujair dan Tepung Beras Merah terhadap Status Gizi Siswa SD di KecamatanLamasi

Penelitian ini bertujuan untuk mengetahui : 1) status gizi siswa SD Lamasi sebelum mengkonsumsi biskuit tepung ikan mujair dan tepung beras merah 2) status gizi siswa SD Lamasi setelah mengkonsumsi biskuit tepung ikan mujair dan tepung beras merah 3) pengaruh biskuit tepung ikan mujair dan tepung beras merah terhadap status gizi siswa SD Lamasi. Jenis penelitian yang digunakan adalah penelitian kuantitatif dengan metode eksperimen yaitu Quasi Experimental design dan Desain penelitian Randomized Controlled Trial (RCT) Single Blind Pre-post Study, jumlah sampel sebanyak 26 orang yang dipilih secara purposive sampling, dari 3 sekolah sebanyak 104 siswa SD kelas V di Kecamatan Lamasi, yang berumur 10-11 tahun. Data penelitian diperoleh dengan teknik angket (ffqdan food recall), wawancara (profilkeluarga), observasi (keadaanlingkungan), dan dokumentasi (data dinaspendidikandan data sekolah). Teknik analisis data yang digunakan adalah analisis deskriptif, uji T dan analisis regresi. Hasil penelitian menunjukkan 1) berkurangnya status gizi kurang siswa dari 11 sampel menjadi 10 sampel, dan meningkatnya status gizi ideal siswa dari 2 sampel menjadi 3 sampel setelah mengkonsumsi biskuit untuk kelompok kontrol, sedangkan untuk kelompok perlakuan sebelum dan setelah mengkonsumsi biskuit terdapat status gizi kurang sebanyak 12 sampel menjadi 11 sampel, dan status gizi ideal sebanyak 1 sampel menjadi 2 sampel. 2) Hasil pengujian pada tabel diketahui nilai t sebesar -1.573 dengan nilai P Value> 0,05 maka dapat disimpulkan bahwa tidak ada pengaruh yang signifikan atau lemah pada konsumsi biskuit tehadap status gizi siswa, dan nilai R = 0.312menunjukkan hubungan antara variabel bebas dan variabel terikat termasuk pada kategori lemah, variabel terikat atau R Square = 9,8% dan 90.2% dipengaruhi oleh faktor lain. Kata kunci: biskuit tepung ikan mujair dan tepung beras merah, status gizi

Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with almost 3000 different disease-causing variants within the NF1 gene identified. Up to 44% of these variants cause splicing errors to occur within pre-mRNA. A recurrent variant in exon 13, c.1466A>G; p.Y489C (Y489C) results in the creation of an intragenic cryptic splice site, aberrant splicing, a 62 base pair deletion from the mRNA, and subsequent frameshift. We investigated the ability of phosphorodiamidate morpholino oligomers (PMOs) to mask this variant on the RNA level, thus restoring normal splicing. To model this variant, we have developed a human iPS cell line homozygous for the variant using CRISPR/Cas9. PMOs were designed to be 25 base pairs long, and to cover the mutation site so it could not be read by splicing machinery. Results from our in vitro testing showed restoration of normal splicing in the RNA and restoration of full length neurofibromin protein. In addition, we observe the restoration of neurofibromin functionality through GTP-Ras and pERK/ERK testing. The results from this study demonstrate the ability of a PMO to correct splicing errors in NF1 variants at the RNA level, which could open the door for splicing corrections for other variants in this and a variety of diseases

Pengaruh Pembelajaran Problem Based Learning (PBL) Terhadap Kemampuan Representasi Matematis Siswa Di Kelas VIII Yayasan Perguruan Islam SMP Cerdasmurni Tembung

Compositions and methods for inhibiting and/or sensitizing or re-sensitizing a parasite to an antiparasitic drug are provided. The compositions can comprise a rifamycin derivative or a pharmaceutically acceptable salt, hydrate, or prodrug thereof in an amount and formulation sufficient to inhibit or induce drug-sensitization in a parasite. The methods can comprise administering a rifamycin derivative or a pharmaceutically acceptable salt, hydrate, or prodrug thereof to a parasite in an amount and formulation sufficient to inhibit or induce drug-sensitization in the parasite.U

Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model

We tested the hypothesis that in utero exposure to heavy metals increases autism-like behavioral phenotypes in adult animals and induces epigenetic changes in genes that have roles in the etiology of autism. Mouse dams were treated with cadmium, lead, arsenate, manganese, and mercury via drinking water from gestational days (E) 1–10. Valproic acid (VPA) injected intraperitoneally once on (E) 8.5 served as a positive control. Young male offspring were tested for behavioral deficits using four standardized behavioral assays. In this study, in utero exposure to heavy metals resulted in multiple behavioral abnormalities that persisted into adulthood. VPA and manganese induced changes in perseverative/impulsive behavior and social dominance behavior, arsenic caused changes only in perseverative/impulsive behavior, and lead induced abnormalities in social interaction in comparison to the control animals. Brain samples from Mn, Pb, and VPA treated and control animals were evaluated for changes in CpG island methylation in promoter regions and associated changes in gene expression. The Chd7 gene, essential for neural crest cell migration and patterning, was found to be hypomethylated in each experimental animal tested compared to water-treated controls. Furthermore, distinct patterns of CpG island methylation yielded novel candidate genes for further investigation

ADGRL3 (LPHN3) variants predict substance use disorder

Genetic factors are strongly implicated in the susceptibility to develop externalizing syndromes such as attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder, conduct disorder, and substance use disorder (SUD). Variants in the ADGRL3 (LPHN3) gene predispose to ADHD and predict ADHD severity, disruptive behaviors comorbidity, long-term outcome, and response to treatment. In this study, we investigated whether variants within ADGRL3 are associated with SUD, a disorder that is frequently co-morbid with ADHD. Using family-based, case-control, and longitudinal samples from disparate regions of the world (n = 2698), recruited either for clinical, genetic epidemiological or pharmacogenomic studies of ADHD, we assembled recursive-partitioning frameworks (classification tree analyses) with clinical, demographic, and ADGRL3 genetic information to predict SUD susceptibility. Our results indicate that SUD can be efficiently and robustly predicted in ADHD participants. The genetic models used remained highly efficient in predicting SUD in a large sample of individuals with severe SUD from a psychiatric institution that were not ascertained on the basis of ADHD diagnosis, thus identifying ADGRL3 as a risk gene for SUD. Recursive-partitioning analyses revealed that rs4860437 was the predominant predictive variant. This new methodological approach offers novel insights into higher order predictive interactions and offers a unique opportunity for translational application in the clinical assessment of patients at high risk for SUD

MAPPING THE BOVINE CYSTIC FIBROSIS GENE

Program year: 1992/1993Digitized from print original stored in HDRHuman cDNA probe H1. 6 (clone 10-1) encoding cystic fibrosis transmembrane conductance regulator (CFTR) was used to map the bovine homolog of CFTR. Using a panel of bovine X rodent hybrid somatic cells, the homolog was mapped to bovine syntenic group U13. CFTR is 97.7% concordant with syntenic markers T-cell receptor beta (TCRB) and P-glycoprotein 3 (PGY3) previously mapped on U13. The comparative gene maps of CFTR, TCRB, and PGY3 on human chromosome 7, bovine syntenic group U13, and mouse chromosomes 5 and 6 indicate considerable evolutionary conservation

Mapping and identification of genes involved in human craniofacial syndromes

Craniofacial development is a complex developmental process requiring many cell types, cell movements, cell interactions, and the orchestrated expression of many genes. Numerous human syndromes are associated with defects in craniofacial development. This thesis is a molecular study of two such syndromes, craniofrontonasal syndrome (CFNS) and holoprosencephaly (HPE). By identifying the genetic causes of these syndromes, we hope to further our understanding of the developmental processes participating in the normal formation of the brain and face. We have accomplished several goals towards the identification of specific genes involved in CFNS and HPE. First, we mapped CFNS by linkage analysis to Xp22. Subsequent mapping of a cytogenetic deletion in a CFNS patient narrowed the CFNS critical region defined by the linkage analysis. Through detailed phenotypic analysis, we also showed that females are more severely affected than males. This is an unusual phenotypic pattern for X-linked inheritance. On the HPE project, the HPE3 region was cytogenetically defined in relation to Sonic Hedgehog (SHH). Deletions or translocations involving position effects and SHH were shown to cause HPE. Also on the HPE project, the HPE2 minimal critical region (MCR) was defined. Because the SIX3 gene was an excellent candidate gene, it was cloned from the region. After screening the entire SIX3 gene for mutations in HPE patients, we determined it to be the HPE2 gene as mutations in the homeodomain were identified. Translocations were also found to map outside the coding region of SIX3 indicating a position effect with SIX3 similar to that observed with SHH. Functional studies of Six-3 in the developing chick embryo were attempted, but no conclusions could be made from the results. Finally, a literature review of the molecular genetics of HPE was compiled. Through this review it became more evident how all the identified HPE genes and likely candidate genes related to each other via signaling pathways such as the SHH, TGFβ, and retinoic acid pathways. These studies have contributed to our understanding of the growing complexities of craniofacial development

Mapping and identification of genes involved in human craniofacial syndromes

Craniofacial development is a complex developmental process requiring many cell types, cell movements, cell interactions, and the orchestrated expression of many genes. Numerous human syndromes are associated with defects in craniofacial development. This thesis is a molecular study of two such syndromes, craniofrontonasal syndrome (CFNS) and holoprosencephaly (HPE). By identifying the genetic causes of these syndromes, we hope to further our understanding of the developmental processes participating in the normal formation of the brain and face. We have accomplished several goals towards the identification of specific genes involved in CFNS and HPE. First, we mapped CFNS by linkage analysis to Xp22. Subsequent mapping of a cytogenetic deletion in a CFNS patient narrowed the CFNS critical region defined by the linkage analysis. Through detailed phenotypic analysis, we also showed that females are more severely affected than males. This is an unusual phenotypic pattern for X-linked inheritance. On the HPE project, the HPE3 region was cytogenetically defined in relation to Sonic Hedgehog (SHH). Deletions or translocations involving position effects and SHH were shown to cause HPE. Also on the HPE project, the HPE2 minimal critical region (MCR) was defined. Because the SIX3 gene was an excellent candidate gene, it was cloned from the region. After screening the entire SIX3 gene for mutations in HPE patients, we determined it to be the HPE2 gene as mutations in the homeodomain were identified. Translocations were also found to map outside the coding region of SIX3 indicating a position effect with SIX3 similar to that observed with SHH. Functional studies of Six-3 in the developing chick embryo were attempted, but no conclusions could be made from the results. Finally, a literature review of the molecular genetics of HPE was compiled. Through this review it became more evident how all the identified HPE genes and likely candidate genes related to each other via signaling pathways such as the SHH, TGFβ, and retinoic acid pathways. These studies have contributed to our understanding of the growing complexities of craniofacial development