High prevalence of arginine to glutamine substitution at 98, 141 and 162 positions in troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians

Background: Troponin I (TNNI3) is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7 %) in this gene had been reported in Hypertrophic Cardiomyopathy patients (HCM). However, the frequencies of mutations and associated clinical presentation have not been established in cardiomyopathy patients of Indian origin, hence we have undertaken this study. Methods: We have sequenced all the exons, including the exon-intron boundaries of TNNI3 gene in 101 Hypertrophic Cardiomyopathy patients (HCM), along with 160 healthy controls, inhabited in the same geographical region of southern India. Results: Our study revealed a total of 16 mutations. Interestingly, we have observed Arginine to Glutamine (R to Q) mutation at 3 positions 98, 141 and 162, exclusively in HCM patients with family history of sudden cardiac death. The novel R98Q was observed in a severe Hypertrophic Obstructive Cardiomyopathy patient (HOCM). The R141Q mutation was observed in two familial cases of severe asymmetric septal hypertrophy (ASH++). The R162Q mutation was observed in a ASH++ patient with mean septal thickness of 29 mm and have also consists of allelic heterogeneity by means of having one more synonymous (E179E) mutation at g.4797: G → A: in the same exon 7, which replaces a very frequent codon (GAG: 85%) with a rare codon (GAA: 14%). Screening for R162Q mutation in all the available family members revealed its presence in 9 individuals, including 7 with allelic heterogeneity (R162Q and E179E) of which 4 were severely affected. We also found 2 novel SNPs, (g.2653; G → A and g.4003 C → T) exclusively in HCM and in silico analysis of these SNPs have predicted to cause defect in recognition/binding sites for proteins responsible for proper splicing. Conclusion: Our study has provided valuable information regarding the prevalence of TNNI3 mutations in Indian HCM patients and its risk assessment, these will help in genetic counseling and to adopt appropriate treatment strategies

PENGELOLAAN PADA HOMESCHOOLING KAK SETO SURABAYA SEBAGAI PENDIDIKAN ALTERNATIF

Tujuan penelitian ini untuk menggambarkan pengelolaan serta faktor-faktor apa saja yang mempengaruhi pengelolaan pada Homeschooling Kak Seto Surabaya sebagai pendidikan alternatif. Penelitian ini menggunakan pendekatan kualitatif dengan teknik pengumpulan data observasi partisipatif, wawancara mendalam, dan dokumentasi. Hasil penelitian ini menunjukkan bahwa Homeschooling Kak Seto Surabaya sebagai pendidikan alternatif terlaksana dengan baik, terbukti menerapkan fungsi pengelolaan pendidikan meliputi: (1) perencanaan diantaranya penyusunan program pembelajaran satu semester, pengadaan tenaga pendidik, merancang mekanisme pengadaan peserta didik, (2) pengorganisasian dilakukan dengan mengelompokkan tenaga pendidik sesuai latar belakang pendidikan, (3) pelaksanaan pembelajaran melalui dua program didukung dengan sarana dan prasarana yang memadai, (4) pengawasan dilakukan pada komponen-komponen pendidikan untuk meminimalisir resiko penyimpangan pelaksanaan program yang telah dirancang diawal, (5) evaluasi dilakukan tiap pertemuan oleh tutor dan dilakukan dua kali dalam satu semester oleh lembaga. Faktor-faktor yang mempengaruhi pengelolaan Homeschooling Kak Seto Surabaya yaitu: (1) faktor penghambat meliputi padangan masyarakat terhadap sistem pembelajaran di Homeschooling Kak Seto Surabaya, tidak adanya sumber daya manusia ahli yang menanggani peserta didik dengan kondisi tertentu, (2) faktor pendukung meliputi dukungan dari Homeschooling Kak Seto Pusat, Dinas Pendidikan Kota Surabaya, serta kerjasama yang terjalin dengan masyarakat sebagai upaya menciptakan kualitas pendidikan kearah yang lebih baik

Pengembangan Media Pembelajaran Matematika melalui Aplikasi Kine Master pada Materi Persamaan Kuadrat

Penggunaan media pembelajaran berbasis Information and Communication Technology (ICT) belum optimal pada pembelajaran matematika. Padahal media pembelajaran memiliki peranan penting dalam memudahkan siswa memahami konsep matematika. Tujuan penelitian ini adalah untuk mengembangkan media pembelajaran matematika melalui aplikasi Kine Master, kemudian untuk mengetahui keefektifan dan kepraktisannya. Jenis penelitian ini adalah Research and Develpoment dengan model analysis, design, development, implementation, and evaluation (ADDIE). Teknik pengumpulan data dengan cara pemberian angket dan tes. Media pembelajaran dinyatakan valid berdasarkan penilaian validator dengan nilai 90,55%, yang berarti sangat valid. Tingkat keefektifan media pembelajaran dinilai berdasarkan  tes hasil belajar, hasilnya menunjukkan sebanyak 30 dari 36 peserta didik memperoleh nilai di atas kriteria ketuntatsan minimal (KKM), yaitu sebesar 83%  75%. Selanjutnya keefektifan media pembelajaran ini juga dilihat dari rata-rata n-Gain hasil pretest dan postest hasil belajar, diperoleh rata-rata n-gain berada pada kategori 0.30 <g< 0.70 tergolong kategori sedang. Kepraktisan media pembelajaran dilihat dari angket respon guru dan peserta didik. Angket respon guru diperoleh 86% (sangat baik) sedangkan angket respon peserta didik diperoleh skor 69% (cukup baik). Jadi media pembelajaran melalui aplikasi Kine Master dinilai sangat valid, cukup efektif dan cukup praktis digunakan dalam pembelajaran matematika

SOSIALISASI PEMANFAATAN CORPORATE SOCIAL RESPONSIBILITY (CSR) DALAM MENORMALISASI KEMBALI IKLIM USAHA BAGI UMKM DI KARAWANG

AbstrakPendapatan para UMKM saat pandemic ini menurun drastis, bahkan sejumlah UMKM kehabisan modal usaha sebab tidak sebanding antara modal usaha, pendapatan usaha dan kebutuhan hidup sehari-hari. UMKM saat ini harus berusaha agar usahanya tidak terkena dampak yang berat akibat covid-19. Usaha Mikro Kecil dan Menengah (UMKM) berada di garis depan guncangan ekonomi yang disebabkan oleh pandemi COVID-19. Dengan adanya CSR maka diharapkan UMKM dapat menormalkan kembali iklim usahanya. Salah satu cara edukasi kepada UMKM yaitu dengan media webinar. Tujuan pengabdian masyarakat ini dilakukan agar UMKM yang ada di Karawang  dapat memanfaatkan program CSR. Metode pelaksanaan pengabdian ini dilakukan dengan sarana media sosial, ini digunakan untuk pencarian data, sosialisasi, penyuluhan kepada mitra yaitu UMKM yang ada di Karawang diantaranya dengan membuat grup whatsapp dan Instagram. Pengabdian masyarakat yang difokuskan kepada UMKM dilakukan dengan cara sosialisasi melalui webinar. Secara umum pelaksanaan pengabdian masyarakat ini dikategorikan sukses dan berjalan dengan baik, hal ini dapat dilihat dari kemampuan peserta dalam memahami materi pemaparan. Persentase keikutsertaan UMKM saat webinar berlangsung yaitu 100 % mengikuti webinar dari awal hingga akhir sesi.  AbstractThe income of MSMEs during this pandemic has decreased drastically, even a number of MSMEs have run out of business capital because they are not comparable between working capital, business income, and daily living needs. MSMEs must currently make efforts so that their businesses are not severely affected by covid-19. Small and medium enterprises (MSMEs) are at the forefront of the economic shocks caused by the COVID-19 pandemic. With the existence of CSR, it is hoped that MSMEs can normalize their business climate again. One way to educate MSMEs is by means of webinars. The purpose of this community service is done so that MSMEs in Karawang can take advantage of CSR. The method of implementing this service is carried out by means of social media, this is used for data search, socialization, outreach to partners, namely MSMEs in Karawang, including by creating WhatsApp and Instagram groups. Community service that is focused on MSMEs is carried out by means of socialization through webinars. In general, the implementation of this community service is categorized as successful and running well, this can be seen from the ability of the participants to understand the presentation material. The percentage of MSME participation during the webinar was 100% following the webinar from the beginning to the end of the session.

THE CORRELATION BETWEEN STUDENTS‟ PERSPECTIVE ON TEACHER‟S INTERPERSONAL BEHAVIOR AND STUDENTS‟ LEARNING MOTIVATION AT SENIOR HIGH SCHOOL 1 PASIR PENYU

ABSTRAK Selvi Bellavia Rani (2022) : Hubungan Perspektif Siswa Terhadap Perilaku Interpersonal Guru Dengan Motivasi Belajar Siswa di SMAN 1 Pasir Penyu. Perilaku interpersonal guru merupakan elemen penting dari lingkungan belajar Hubungan antara guru dan siswa harus menjadi salah satu kunci penting untuk keberhasilan kegiatan belajar mengajar di kelas karena akan mendukung terciptanya lingkungan kelas yang baik. Tidak hanya itu faktor yang paling signifikan dalam menentukan pekerjaan guru yang sukses melainkan hubungan antara guru dan siswa memainkan peran penting di bidang akademik untuk membawa motivasi belajar dari siswa. Tujuan penelitian ini adalah untuk menguji apakah ada hubungan yang signifikan antara perilaku interpersonal guru dengan Motivasi Belajar Siswa di SMA Negeri 1 Pasir Penyu. Penelitian ini menggunakan penelitian kuantitatif. Metode kuantitatif korelasional digunakan dalam penelitian ini. Penelitian ini dilaksanakan pada bulan September sampai Oktober 2021 di SMA Negeri 1 Pasir Penyu. Populasi dalam penelitian ini adalah siswa kelas XI SMA Negeri 1 Pasir Penyu yang terdiri dari 4 (empat) kelas IPA dengan jumlah 140 siswa dan sampelnya 33 siswa yang diambil secara purpossive sampling. Selain itu, peneliti menggunakan dua kuesioner untuk mengukur perspektif siswa tentang perilaku interpersonal guru dan motivasi belajar siswa dengan konten yang berbeda. Temuan menunjukkan bahwa peneliti menggunakan koefisien korelasi Rank Spearman melalui SPSS 22.00 untuk menganalisis data. Hasil penelitian menunjukkan bahwa sig(2-tailed) adalah 0,729. Dapat dikatakan 0,729 > 0,05. artinya hipotesis alternatif (Ha) ditolak sedangkan hipotesis nol (Ho) diterima. Koefisien korelasi (r) adalah 0,063. Kesimpulannya, tidak ada hubungan yang signifikan antara perspektif siswa tentang perilaku interpersonal guru dengan motivasi belajar siswa di SMA Negeri 1 Pasir Penyu

Pengembangan Media Pembelajaran Matematika Melalui Aplikasi Kine Master Pada Materi Persamaan Kuadrat Dengan Cara Daring Di SMAN 1 Padang Tualang

Tujuan dari penelitian ini adalah mengembangkan media pembelajaran matematika dengan menggunakan aplikasi kine master secara daring di kelas X IPA 2 SMAN 1 Padang Tualang pada materi persamaan kuadrat dengan kriteria Kevalidan, Kepraktisan dan Keefektifa.Jenis penelitian menggunakan penelitian pengembangan atau Research and Development (R&D) dengan menggunakan model ADDIE yang terdiri dari 5 tahapan, yaitu: 1 analisis, (analysis), desain (design), pengembangan (development), implementasi (implementation) dan evaluasi (evaluation). Subjek penelitian ini berjumlah sebanyak 36 orang. Teknik analisis data yang digunakan adalah analisis deskriptif kualitatif dan kuantitatif.Hasil penelitianmenunjukkan bahwa media yang dikembangkan memenuhi kevalidan, kepraktisan dan keefektifan. Hasil validasi media pembelajaran dengan seluruh aspek penilaian berdasarkan skor persentase kelayakan oleh ahli media yaitu 90,55%.dengan kategori valid atau sangat layak digunakan. Tingkat kepraktisan dari media yang dikembangkan berdasarkan dari penilaian hasil respon respon guru matematika diperoleh nilai rata-rata 4,3 dengan kategori sangat baik/ praktis dan hasil angket respon peserta didik diperoleh nilai rata-rata 3,49 dengan kategori baik/cukup praktis. Untuk tingkat keefektifan dari media yang dikembangkan berdasarkan hasil perhitungan persentase ketuntasan klasikal peserta didik dengan rata-rata 83% > 75% dengan hasil indeks Gain Ternormalisasi 0,405 yang tergolong sedang. Dengan demikian media pembelajaran ini dikatakan efektif digunakan dalam pembelajaran daring

Y chromosome deletions in azoospermic men in India

Genetic factors cause about 10% of male infertility. Azoospermia factors (AZFa, AZFb, AZFc) are considered to be the most important for spermatogenesis. We therefore made an attempt to evaluate the genetic cause of azoospermia, Y chromosome deletion in particular, in Indian men. We have analyzed a total of 570 men, including 340 azoospermic men and 230 normal control subjects. DNA samples were initially screened with 30 sequence-tagged site (STS) markers representing AZF regions (AZFa, AZFb, AZFc). Samples, with deletion in the above regions were mapped by STS walking. Further, the deletions were confirmed by Southern hybridization using the probes from both euchromatic and heterochromatic regions. Of the total 340 azoospermic men analyzed, 29 individuals (8.5%) showed Y chromosome deletion, of which deletion in AZFc region was the most common (82.8%) followed by AZFb (55.2%) and AZFa (24.1%). Microdeletions were observed in AZFa, whereas macrodeletions were observed in AZFb and AZFc regions. Deletion of heterochromatic and azoospermic regions was detected in 20.7% of the azoospermic men. In 7 azoospermic men, deletion was found in more than 8.0 Mb spanning AZFb and AZFc regions. Sequence analysis at the break points on the Y chromosome revealed the presence of L1, ERV, and other retroviral repeat elements. We also identified a 240-kb region consisting of 125 bp tandem repeats predominantly comprised of ERV elements in the AZFb region. Histological study of the testicular tissue of the azoospermic men, who showed Y chromosome deletion, revealed complete absence of germ cells and presence of only Sertoli cells

Novel variants in UBE2B gene and idiopathic male infertility

The UBE2B gene encodes ubiquitin-conjugating enzyme, which is involved in DNA repair. Ube2b knockout mice were found to be infertile because of structural abnormality of sperm. However, there is no genetic study on the role of the UBE2B gene in human fertility; therefore, the present investigation was designed to study genetic variations in the UBE2B gene and its role in human male infertility. Sequence analyses of the UBE2B gene in 530 infertile (350 azoospermic, 105 oligoasthenoteratozoospermic, and 75 oligoasthenozoospermic) and 300 fertile control men revealed the presence of 5 substitution single-nucleotide polymorphisms (SNPs) in 221 individuals (199 infertile [37.5%] and 22 fertile [7.3%] men). Of these, 2 (g.5197:T>G; g.9157:A>G) of the 5 substitutions were novel and observed only in infertile men. Distribution of haplotypes TA, TG, GA, and GG are not uniform between the patient and the control group of this study. Interestingly, our study suggests that the haplotype TG conferred significantly increased risk for male infertility (odds ratio=5.07, 95% CI=1.29-23.29, p=.007). In silico analysis of SNPs that were specific to infertile men predicted that these SNPs lead to defective splicing by destroying or creating the potential binding site of splicing factors or causing alteration in predicted regulatory sequences. In the light of the above, our study suggests that the UBE2B gene is associated with male infertility in Indian men, hence, providing evidence for additional genetic factors for male infertility

Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India.

BACKGROUND: IL8RA and IL8RB, encoded by CXCR1 and CXCR2, are receptors for interleukin (IL)-8 and other CXC chemokines involved in chemotaxis and activation of polymorphonuclear neutrophils (PMN). Variants at CXCR1 and CXCR2 have been associated with susceptibility to cutaneous and mucocutaneous leishmaniasis in Brazil. Here we investigate the role of CXCR1/CXCR2 in visceral leishmaniasis (VL) in India. METHODS: Three single nucleotide polymorphisms (SNPs) (rs4674259, rs2234671, rs3138060) that tag linkage disequilibrium blocks across CXCR1/CXCR2 were genotyped in primary family-based (313 cases; 176 nuclear families; 836 individuals) and replication (941 cases; 992 controls) samples. Family- and population-based analyses were performed to look for association between CXCR1/CXCR2 variants and VL. Quantitative RT/PCR was used to compare CXCR1/CXCR2 expression in mRNA from paired splenic aspirates taken before and after treatment from 19 VL patients. RESULTS: Family-based analysis using FBAT showed association between VL and SNPs CXCR1_rs2234671 (Z-score = 2.935, P = 0.003) and CXCR1_rs3138060 (Z-score = 2.22, P = 0.026), but not with CXCR2_rs4674259. Logistic regression analysis of the case-control data under an additive model of inheritance showed association between VL and SNPs CXCR2_rs4674259 (OR = 1.15, 95%CI = 1.01-1.31, P = 0.027) and CXCR1_rs3138060 (OR = 1.25, 95%CI = 1.02-1.53, P = 0.028), but not with CXCR1_rs2234671. The 3-locus haplotype T_G_C across these SNPs was shown to be the risk haplotype in both family- (TRANSMIT; P = 0.014) and population- (OR = 1.16, P = 0.028) samples (combined P = 0.002). CXCR2, but not CXCR1, expression was down regulated in pre-treatment compared to post-treatment splenic aspirates (P = 0.021). CONCLUSIONS: This well-powered primary and replication genetic study, together with functional analysis of gene expression, implicate CXCR2 in determining outcome of VL in India.RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are

Genetic affinities of the Jewish populations of India

Due to the lack of written records or inscription, the origin and affiliation of Indian Jewish populations with other world populations remain contentious. Previous genetic studies have found evidence for a minor shared ancestry of Indian Jewish with Middle Eastern (Jewish) populations. However, these studies (relied on limited individuals), haven’t explored the detailed temporal and spatial admixture process of Indian Jewish populations with the local Indian populations. Here, using large sample size with combination of high resolution biparental (autosomal) and uniparental markers (Y chromosome and mitochondrial DNA), we reconstructed genetic history of Indian Jewish by investigating the patterns of genetic diversity. Consistent with the previous observations, we detected minor Middle Eastern specific ancestry component among Indian Jewish communities, but virtually negligible in their local neighbouring Indian populations. The temporal test of admixture suggested that the first admixture of migrant Jewish populations from Middle East to South India (Cochin) occurred during fifth century. Overall, we concluded that the Jewish migration and admixture in India left a record in their genomes, which can link them to the ‘Jewish Diaspora’