Desain didaktis berbasis Permainan Tradisional Engklek di Sekolah Dasar

Abstract This research motivated by the findings of learning obstacles experienced students in material around square. This is known based on the results of  test questions conducted during preliminary study to fourth grade elementary school students. To overcome  learning obstacles experienced by students, researchers will design a didactic design. The purpose of this study is to describe the didactic design on the material around square and describe the students' responses the implementation of didactic design. The didactic design can be interpreted  learning design that emphasizes the didactic aspect, namely the teacher's teaching method. This study uses method with a Didactical Design Research (DDR) research design consisting of three research stages, namely a prospective analysis of the didactic situation before learning (prospective analysis) in the form of a Hypothetical Didactic Design including ADP (Pedagogical Didactic Analysis), metapedadidactive analysis, and retrospective analysis (retrospective analysis), with data collection techniques used in the form of interviews, observations, and attitude scales. The research subjects were 26 students in grades IV and VI and 1 teacher for grade IV at SDN 1 Sindangrasa. Based on results of study, through application of the didactic design carried out in stages I and II,   can help overcome learning obstacles experienced by students in the material around a square. This is shown from the students' responses on the attitude scale, results of the LAS (Student Activity Sheet) work and interviews with teachers. In addition,   didactic design is able to create a fun and meaningful learning atmosphere for students. Keywords: learning obstacle, didactical design research, square, meaningful learning, LAS Abstrak Penelitian ini dilatarbelakangi oleh adanya temuan learning obstacle  yang dialami siswa pada materi keliling persegi. Hal ini diketahui berdasarkan hasil soal tes yang dilakukan pada saat studi pendahuluan kepada siswa kelas IV Sekolah Dasar. Untuk mengatasi learning obstacle yang dialami siswa, peneliti akan merancang sebuah desain didaktis. Tujuan dari penelitian ini adalah untuk mendeskripsikan desain didaktis pada materi keliling persegi serta memaparkan respon siswa dan guru terhadap implementasi desain didaktis tersebut. Desain didaktis dapat diartikan sebagai desain pembelajaran yang lebih menekankan pada aspek didaktik yakni cara pengajaran guru. Penelitian ini menggunakan metode Didactical Design Research (DDR) yang terdiri dari tiga tahap penelitian, yakni analisis situasi didaktis sebelum pembelajaran (prospective analysis) berupa Desain Didaktis Hipotesis termasuk ADP (Analisis Didaktis Pedagogis), analisis metapedadidaktif, dan analisis retrospektif (retrospective analysis), dengan teknik pengumpulan data yang digunakan berupa wawancara, observasi, dan skala sikap. Subjek penelitian yaitu 26 siswa kelas IV dan VI serta 1 guru kelas IV SDN 1 Sindangrasa. Berdasarkan hasil penelitian, melalui penerapan desain didaktis yang dilakukan pada tahap I dan II dapat membantu mengatasi learning obstacle yang dialami siswa pada materi keliling persegi. Hal ini ditunjukkan dari respon siswa pada skala sikap, hasil pengerjaan LAS (Lembar Aktivitas Siswa) serta wawancara terhadap guru. Selain itu, desain didaktis mampu menciptakan suasana pembelajaran yang menyenangkan dan bermakna bagi siswa.  Kata kunci : hambatan belajar, desain didaktis, persegi, pembelajaran bermakna, LAS

Molecular Genetic Analysis of Families With Nystagmus

Genetic studies provide an opportunity to discover the basis of inherited diseases. Identification of new disease-causing variants provides important insights into the molecular genetic basis of an inherited disease. Once the genetic cause of a disorder is established, diagnostic testing may be performed to provide affected families the chance of early diagnosis and treatment intervention, support may be provided via premarital or prenatal counseling, and educational benefits may be provided regarding the causes and nature of the inherited disease. Nystagmus, characterized by abnormal eye movement can be non-syndromic or syndromic (associated most commonly with albinism and OCA). Most commonly observed form of eyes movement is horizontal (to-and-fro), but some other like vertical, rotary, jerk and pendular have also been reported. Idiopathic congenital nystagmus (ICN) refers to a group of abnormal eye movements which can be observed within the first 6 months after birth (early infancy). The worldwide Frequency of nystagmus is unknown but one study revealed 1in 1,500 live births. There is no report available about its prevalence in the Pakistani population. This study involves the genetic investigation of nystagmus and associated syndromes in selected families from different regions of Pakistan. During this work, six (6) novel mutations were uncovered in four genes, associated with non-syndromic (FRMD7) and syndromic (TYR, OCA2, and CNGA3) nystagmus. These mutations are one novel nonsense mutation p.leu133* in the FRMD7 gene in a family (Family-01) with congenital nystagmus, a novel missense mutation p.Trp80Cys in the first coding exon of TYR in two families (Family-02 and 03), two novel heterozygous OCA2 gene mutations p.Arg588Trp and p.Arg137Ilefs*83 in two families (Family-05 & and 06) and a novel missense mutation c.1540G>A (p.D514N) in family-08 along with one reported TYR mutation, three OCA2 heterozygous and one CNGA3 mutation in different families (Family04, Family-07, and Family-09).In order to establish the pathogenic potential of the described variants, different in-silico analyses were performed. Further, normal and mutated protein structures were predicted by expand current knowledge of the molecular causes of nystagmus and associated clinical conditions. More in-depth investigation of the disease mechanisms underlying these conditions may, in turn, translate into providing treatment therapies for affected families in near future.