Perbedaan Pengaruh Sepatu Berhak Wedge Dan Non-wedge Terhadap Gait Dan Keseimbangan

Latar Belakang : Penggunaan sepatu hak tinggi memberikan pengaruh bagi tubuh, Perubahan postur, kinematika, Perubahan gaya berjalan yang dapat berimplikasi pada keseimbangan tubuh. Dewasa ini muncul berbagai jenis sepatu dengan luas alas hak sepatu yang berbeda, berupa wedge dan non-wedge. Perbedaan luas alas hak sepatu memungkinkan pengaruh yang berbeda bagi tubuh.Tujuan : Membuktikan perbedaan pengaruh sepatu berhak wedge dan non-wedge terhadap gait dan keseimbanganMetode : Penelitian eksperimental dengan rancangan two group pre and post design. Subyek adalah wanita berusia 18-24 tahun. Enam puluh dua wanita yang bersedia mengikuti penelitian dan memenuhi kriteria inklusi dan eksklusi dibagi secara acak menjadi dua kelompok, kelompok perlakuan wedge dan non-wedge masing-masing berjumlah 31 orang. Setiap kelompok dilakukan Walk test untuk uji gait, One leg stand dan Tandem stand untuk uji keseimbangan sebelum dan setelah perlakuan menggunakan sepatu hak tinggi 7 cm. Hasil : Hasil penelitian ini menunjukkan terjadi Perubahan gait dan keseimbangan secara signifikan sebelum dan setelah perlakuan. Namun, jika dibandingkan selisih Perubahan antara kelompok wedge dan non-wedge menunjukkan tidak terdapat perbedaan bermakna pada parameter gait. Parameter gait step length menunjukkan perbedaan signifikan (p=0,006), sedangkan stride length, cadence, dan gait speed tidak menunjukkan perbedaan signifikan (p=0,288; p=0,888; p=0,679). Pada uji keseimbangan, tidak menunjukkan perbedaan signifikan (p>0,050) pada selisih Perubahan keseimbangan antar kelompok.Kesimpulan : tidak terdapat perbedaan pengaruh antara sepatu berhak wedge dan non-wedge terhadap gait dan keseimbanga

Pengaruh Paparan Obat Nyamuk Pada Kelainan Gambaran Histologi Sel Leydig Testis Tikus Sprague Dawley

Background: Insecticides are chemicals that are often encountered in everyday life. These substances can disrupt the body\u27s endocrine hormonal balance so that it\u27s called Endocrine Disrupting Chemicals (EDCs). EDC works by disrupting the hypothalamic-pituitary-testicular axis. Thus, it can affect the Leydig cell.Aim: To determine the effect of exposure of estrogen-containing insecticides to testicular Leydig cell histological appearance.Methods: This was a true experimental study with parallel post-test only control group design. It used Sprague Dawley rat aged 3 days post-natal (n = 25) which were randomlydivided into 5 groups (control group (n = 5); 25 mg β estradiol 3-benzoate (n = 5); burning mosquito repellent (n = 5); 3 ml of liquid mosquito repellent (n = 5); and 4 ml of liquid mosquito repellent (n = 5)). Exposure is given for 28 days. At the age of 100 days, testes were taken and examined their histopathological appearance of Leydig cell Malignancies using HE staining. The statistical test used Kruskal-Wallis and Mann-Whitney test.Results: In this study, there was an increase in the number of testicular Leydig cell groups in each treatment group as compared tocontrol group. There was significant difference between control group with 25 mg β estradiol 3-benzoate (p = 0.007), burning mosquito repellent (p = 0.008), and liquid repellent 4 ml (p = 0.008) treated group. However, there was no significant difference between the treatment groups of 3 ml liquid repellent as compraed to the control group (p = 0.827).Conclusion: Exposure to insecticides may lead to increase in the number of Leydig cell groups

Analisis Kromosom Pada Penderita Dengan Anomali Kongenital Multipel Di Laboratorium Cebior

Background : Multiple congenital anomalies are structural or functional disorders including two or more organ systems that occured during prenatal period and appear after birth. Multiple congenital anomalies count for 7% of all congenital anomaly cases or with rate of 15.9 cases per 10.000 birth. Untill today, the true risk factors of multiple congenital anomalies are still debatable, this condition makes the occurence of this disorder difficult to prevent.Aim : To analyze the prevalence of chromosomal abnormality and its pattern in patient with multiple congenital anomalies at Center for Biomedical Research (CEBIOR).Method : This was a retrospective and prospective designed study. This study included patients with multiple congenital anomalies who referred to CEBIOR for chromosomal analysis from Januari 2006 to April 2015 .Result : The lowest number patients with multiple congenital anomalies referred to CEBIOR was 1 case in 2006, whilst the highest number was 12 cases in 2014. The patients with multiple congenital anomalies were dominated by male (n=35) compared to female (n=18). Twenty nine patients had male karyotype, 46,XY, while those with 46,XX karyotype were 14 cases, 1 case with 47,XXY, 7 cases with trisomy 21, 1 case with trisomy 18, and 1 case with deletion on 9q chromosome. Patients with multiple congenital anomalies were mostly below 5 years old (25 cases) followed by patients between 5-10 years old (13 patients) and 15 patients were older than 10 years old.Conclusion : The incidence of multiple congenital anomalies at CEBIOR was increased. The patients were mostly below 5 years old. Chromosomal abnormality were mostly trisomi 21

A Cohort Study of Intellectual Disability Focusing on Fragile X Syndrome in Indonesia

Background: Intellectual disability (ID) is a major public health problem because the defect, treatment and rehabilitation require long life both medical and socio-economic assessment. Fragile X syndrome (FXS) is the most common cause of inherited X-linked intellectual disabilities (ID) with reduced penetrance. With regards to behavioral and emotional phenotype, FXS commonly mixed up with idiopathic autism. The prevalence is found higher in males compared to females. In accordance with rapid development of diagnosis technique, the prevalence of FXS is defining worldwide including Indonesia using, currently, simple molecular method.Objectives: This study was aimed to diagnose genetic cause of ID and to establish the prevalence of FXS among ID population in Central Java, and Yogyakarta Province.Method: Screening has been performed since 1994 continuously in high risk population (special school with and without autism) using clinical, cytogenetic, and FMR1 gene PCR-based molecular approach. Cascade testing was subjected to the family members with positive result of FXS and many new cases were disclosed in our cohort study.Results: The prevalence of FXS among ID population was calculated to be 1.9% (5/262) in 1994 and 1.7% (9/527) in 2011. Among autism population it was determined to be 6.15% (4/65). Trisomy 21 was found in 14% (74/527) as a major cause of ID.Conclusion: The prevalence of FXS among screened ID population overtime is comparable

Pengaruh Paparan Insektisida Bakar Bentuk Lingkar Dan Insektisida Cair Terhadap Spermatogenesis Tikus Sprague Dawley Dilihat Secara Histopatologis

Latar belakang : lingkungan tersusun dari zat-zat kimia yang memiliki pengaruh estrogenik terhadap manusia. Estrogen lingkungan yang dikenal sebagai xenoestrogen dapat ditemukan dalam insektisida yang dipakai dalam kehidupan sehari-hari. Efek dari interaksi antara estrogen asing terhadapa system reproduksi pria selama masa neonatus, dapat mengganggu perkembangan organ dan menyebabkan infertilitas.Tujuan : Untuk mengetahui efek klinis dari komponen zat yang mengandung estrogen selama periode perkembangan awal dari tikus jantan terhadap gangguan proses spermatogenesis saat dewasa.Metode : Penelitian ini memiliki desain true experimental dengan post test only control group. Tikus SD yang baru lahir (n-25) secara random dibagi dalam 5 group (Grup kontrol (n=5), estrogen 25 μg (n=5), insektisida bakar (n=5), insektisida cair 3 ml (n=5), and insektisida cair 4 ml (n=5)). Perlakuan diberikan 1 per 2 hari selama 20 hari. Pada usia ke 100 hari, semua tikus dibunuh, dan testisnya diambil untuk dilakukan pengamatan histopatologi dengan pengecatan HE dan dikatageorikan menurut Johnson scor.Hasil : β estradiol 3-benzoate (estrogen poten) yang dipaparkan selama 20 hari menyebabkan penurunan yang signifikan(p <0,05) terhadap jumlah tubulus normal (30,4%) dibandingkan dengan grup kontrol (80,4%). Terdapat peningkatan signifikan dari tubulus dengan kategori late maturity arrest tubule, early maturity arrest tubule, and absence of germ cell tubule dibandingkan dengan grup kontrol (p <0,05). Paparan insektisida bakar bentuk lingkar menyebabkan penurunan signifikan jumlah tubulus normal (38,8%) dibandingkan dengan grup kontrol. (p<0,05). Paparan insektisida cair dosis 3ml menyebabkan penurunan signifikan jumlah tubulus normal (42,8%) dibandingkan dengan grup kontrol (p<0,05). Efek dari paparan insektisida cair dosis 3ml menyebabkan penurunan signifikan jumlah tubulus normal (44%) dibandingkan dengan grup kontrol (p<0,05). Baik insektisida bakar bentuk lingkar maupun insektisida cair menyebabkan peningkatan yang signifikan untuk tubulus dengan kategori late maturity arrest tubule, early maturity arrest tubule (p <0,05) dibandingkan kelompok kontrol.Conclusion : secara umum, paparan 25 μg β estradiol 3-benzoate, insektisida bakar bentuk lingkar dan insektisida cair terhadap tikus SD pada masa neonatus, menyebabkan gangguan pada proses spermatogenesis saat dewasa

CHARGE Syndrome: an Indonesian Case Report

Background: CHARGE syndrome is an autosomal dominant congenital and rare genetic disease.The prevalence of CHARGE syndrome approximately 1:12,000 births.In the previous study, the CHD7 gene mutation is responsible in about 2/3 cases of CHARGE syndrome. The syn­drome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All defects are not seen in every case and a different spectrum of associations is seen in most of the cases.Method: Case was undergone physical examination by experience pediatricians, pedigree construction, and other diagnostic procedure (X-ray, echo­cardiography, and multi slice computer tomography (MSCT) scan).Results: A boy aged 2 years 9 months with clinical features with match major and minor criterias of CHARGE syndrome.Conclusion: Based on clinical diagnostic criteria this case is fulfilling with definite CHARGE syndrome

Are GSTM1 Null and GSTT1 Null Risk Factor of Autism Spectrum Disorder? a Preliminary Study

Background: Low plasma total glutathione (tGSH) levels, elevated levels of oxidized glutathione (GSSG) and low ratios of tGSH to GSSG in autism were reported. Glutathione S-transferases (GST) are antioxidant enzymes that play important role in cellular detoxification and the excretion of environmental pollutants including heavy metals. Glutathione S-transferase mu (GSTM1) and Glutathione S-transferase theta (GSTT1) are known to be highly polymorphic. Homozygous deletions of these genes result in lack ofenzyme activity and impaired the ability to excrete metals including mercury. Combined effects of mercury (Hg) accumulation coupled with decreased levels of antioxidants (low glutathione and antioxidant enzymes) contribute to the phenotypic presentation of autism spectrum disorder (ASD). Association of GSTM1 null genotype with autism has been reported. Therefore the preliminary study was performed to investigate the role of GSTM1 null and GSTT1 null as risk factor of ASD associated with phenotype expression.Method: Fifty one ASD patients were recruited from special need & autism school and 45 controls from Semarang & Solo. Blood veins samples were collected and genomic DNA was extracted by salting-out method in CEBIOR Semarang. Genotyping for GSTM1 and GSTT1 gene was done in UMBI Malaysia. Multiplex PCR was performed and PCR products were separated on 1.2 % agarose gel, stained with ethidium bromide and visualized on UV transiluminator. GSTM1 & GSTT1 gene product is about 625 bp and 459 bp. Absence of GSTM1 and GSTT1 gene band was interpreted as GSTM1 null & GSTT1 null.Results: The frequency of GSTM1 null and GSTT1 null in ASD higher compared with control group but the difference is not statistically significant (p=0.357, OR=0.504; 95% CI 0.117-2.168 and p=0.364, OR=0.674; 95% CI 0.287-1.580). There is also no statistically different in the distribution of GSTM1 null and GSTT1 null between mild to moderately autistic and severely autistic (p=0.983, OR=0.980; 95% CI 0.158-6.095 and p=0.439, OR=1.633; 95% CI 0.471-5.656).Conclusion: GSTM1 null and GSTT1 null are not risk factor of ASD. Further investigations are needed with a bigger sample size, analyzing multiple GST genes and GST activity determination to find out the gene susceptibility of ASD and factors that contribute to the phenotype expression of ASD

Frequency of MTHFR GENE C677T Polymorphism for Non-Syndromic Autism Spectrum Disorder Patients

Background: The folate metabolism is a pathway that may involve in the non-syndromic Autism Spectrum Disorder (ASD). Methylenetetrahydrofolate reductase enzyme has a key role in folate metabolism. The C677T polymorphism of MTHFR gene could reduce the effectiveness of the enzyme.Objectives: To evaluate the frequency of MTHFR geneC677T polymorphism for non-syndromic ASD patients.Method: Thirty-four DNA samples were taken from each group. PCR mixture was consisted of 1µL DNA, 2.5µL PCR buffer, 0.5µL dNTP, 1.5µL MgCL2, 0.125µLTaqenzyme, 0.5µLofforwardandreverseprimerandaquabidesttoreach a volume of 25 µL. The PCR profiles were initiation 95ºC for 5 min, denaturation 94ºC for 1min, annealing 55ºCfor 45 seconds, and elongation 72ºC for30 seconds. The cycles were done in 35 times an dfinal elongation was at 72ºC for 5min. The PCR product was 198bp, and then digested by the Hinfl enzyme for 16hours at 37°C, and visualized using2%agarosegeland then electrophoresed for 30 minutes at 100 volts.Result: Non-syndromic ASD samples showed none had homozygote mutant type (677TT), 3 (8.8%) samples had heterozygote (677CT)and 31 (91.2%) samples had wild type (677CC). Meanwhile, normal control showed only 1 (2.9%)sample had homozygote mutant type(677TT), 9 (26.5%) samples had heterozygote (677CT)and 24 (70.6%) samples had wild type (677CC).Conclusion: The frequency of MTHFR geneC677T polymorphism in patients with non-syndromic ASD and controls are not significantly different

Case Report Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

We report the clinical presentation and laboratory findings of a 69-year-old man with fragile X-associated tremor ataxia syndrome (FXTAS), a progressive neurodegenerative disorder, who was noted to have monoclonal gammopathy of undetermined significance (MGUS), a plasma cell proliferative disorder and a precursor disease of multiple myeloma. Both MGUS and FXTAS are associated with microRNA (miRNA) dysregulation. We speculate that individuals with FXTAS may be predisposed to MGUS and further studies are warranted regarding this association

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

Background:FMR1 CGG trinucleotide repeat hyper-expansions are observed in 99% of individuals with fragile X mental retardation syndrome (FXS). We evaluated the reliability of a rapid single-step gender-neutral molecular screen for FXS when performed on DNA isolated from dried blood spots.Methods: DNA was extracted from dried blood spots of 151 individuals with intellectual disability or autism spectrum disorder, whose FMR1 repeat genotypes are known. Dried blood spots were blinded prior to DNA extraction and analysis by triplet primed PCR (TP-PCR) and melt curve analysis (MCA). All expansion-positive and representative expansion-negative samples were also genotyped by fluorescent TP-PCR and capillary electrophoresis (CE) to confirm repeat expansion status.Results: Three males and 12 females were classified as expanded by TP-PCR MCA, and were subsequently sized by fluorescent TP-PCR CE. Two males and four females carried premutations, while one male and eight females carried full mutations. All 19 non-expanded samples that were sized were confirmed as carrying only normal alleles. Replicate analysis of representative expansion-positive samples yielded reproducible melt peak profiles. TP-PCR MCA classifications were completely concordant with FMR1 CGG repeat genotypes.Conclusion: TP-PCR MCA of dried blood spot DNA accurately and reliably identifies presence/absence of FMR1 CGG repeat expansions in both genders simultaneously. This strategy may be suitable for rapid high-throughput first-tier screening for fragile X syndrome