Pencegahan Penyebaran Covid-19 Dengan Hand Sanitizer Pedal Di Kelurahan Wonocolo, Surabaya

Abstract: Covid-19 is an acute respiratory tract infection that is easily contagious. Wonocolo Village is one of the villages in Surabaya that is prone to the spread of Covid-19 due to high population mobilization. In addition, in the Wonocolo area RT 11 RW 4 does not yet have public hand sanitizer facilities. Public awareness about personal hygiene is also starting to decrease. By observing these phenomena and problems, a hand sanitizer pedal procurement activity was carried out in the Wonocolo RT 11 RW 4 area. The hand sanitizer pedal is operated by stepping on the foot to minimize the possibility of the spread of Covid-19 due to alternating hand touches. The method used is to make and install a hand sanitizer pedal, and explain how to operate it. The changes felt by residents from the procurement of pedal hand sanitizers are that the Wonocolo RT 11 RW 4 area has public hand sanitizer facilities. This indirectly reminds and familiarizes residents to clean their hands before and after activities outside the home. The activity went well and was greeted enthusiastically by the residents. It is evident from the participation of residents in helping the process of making and installing hand sanitizer pedals

SRY-negative in 46, XX Male Testicular DSD: a case report

Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, the primordial gonad. Deviations of this signaling mechanism may result in disorders/differences of sex development (DSD). The 46, XX testicular DSD is a rare genetic condition identified by a discrepancy between genetic and phenotypic sex caused sex reversal syndrome. Case Presentation: We describe the case of a 5 years-old 46, XX boy with ambiguous genitalia. On physical examination he had severe hypospadias, bifid scrotum, micropenis and palpable bilateral testes. Cytogenetic analysis of patient reveals a 46, XX karyotype. Hormonal assay showed low level of FSH, LH and Testosterone and there was no evidence of Mullerian structures based on pelvic imaging. The histopathology of gonadal tissue showed a Leydig cell hyperplasia which gives the impression of Sertoli cell nodule. Polymerase chain reaction (PCR) analysis failed to identify the presence of SRY gene, therefore a diagnosis of 46, XX Testicular DSD with SRY-negative was established. Conclusion: This report presents a rare case of SRY-negative 46, XX Testicular DSD in a boy with ambiguous genitalia. A comprehensive management including clinical, cytogenetic and molecular analyses have indicated that undiscovered genetic or environmental factors needs to be elucidated. It is important to carry out further molecular testing to establish precise diagnosis of DSD and to provide appropriate genetic counseling for patients and their family

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and  psychosocial.  Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities

Profile of Hypospadias Cases in Central Java, Indonesia

Background: Hypospadia is believed to be a multifactorial disease.  The risk factors that may induce the formation of hypospadias are environmental factors, endocrine disruptors, and genetic factors. The aim of this study was to describe the profile of hypospadias patients who visited the Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.Methods: This study is an observational study, using patients’ medical record in CEBIOR from 2010 to 2012. The hypospadias cases were classified into syndromic, isolated and severe hypospadias based on their phenotype. The history of pregnancy, birth characteristics, and family history of the patients were described.Results: There were 120 cases of hypospadias, consisted of 48.33% severe hypospadias, 41.67% mild isolated hypospadias and 10% syndromic hypospadias. There were 38.33% hypospadias cases whose mothers were being exposed to repellant usage and 39.17% cases whose fathers were smoking. Forty (33.33%) probands’ mothers were aged above 35 years old when they gave birth to their affected son.Conclusion: Majority of hypospadias cases were severe and mild isolated. Environtmental factors including maternal age more than 35 years old, use of repellant, and smoking fathers were found in this study.

Analisis Prevalensi Dan Faktor Risiko Pasien Dengan Isolated Hypospadias Di Laboratorium Cebior

Background: Hypospadias is a common congenital anomaly characterized by the location of orificium urethra external between perineum and its normal position at the tip of the glans. It occurs in 17 per 10.000 male births. The risk factors of hypospadias are still unclear, so hypospadias is still difficult to prevent.Aims: To analyze prevalence and risk factors isolated hypospadias in patients referred to the Center for Biomedical Research (CEBIOR).Methods: Two hundred and forty nine patients were registered during the period January 2005-April 2015. Prevalence and risk factors were analyzed descriptively using secondary data and risk factors were also analyzed with Chi-Square test.Results: The declining number of patients with isolated hypospadias in CEBIOR was found because of the movement process of laboratory and alteration system of assurance. All of patients with isolated hypospadias had male karyotype 46, XY (100%). Based on the anatomic position of orificium urethra external, most of isolated hypospadias cases were penile hypospadias (60.69%). An increased risk of severe isolated hypospadias was found in mother aged older than 35 years old (PR: 1.976, 95% CI: 1.048-3.726). Parity, low birth weight, smoking father, pesticide exposure, mosquito repellant incense exposure, hormonal contraceptive use, and taking certain medication were not associated with increased severity of isolated hypospadias (p>0.05).Conclusions: The number of patients with isolated hypospadias in CEBIOR was decreased recently. The advanced maternal age was the risk factor of severe isolated hypospadias

Screening A Trinucleotide Repeat Expansion: How precise PCR can be?

ABSTRACT Background. Trinucleotide Repeat Expansion (TRE) in human DNA could lead to various diseases. An expanded CAG repeat (>31 or 37 repeats, depends on the ethnicity) in Androgen Receptor gene is suggested to be associated with the occurrence of isolated hypospadias. In an effort to identify the exact numbers of repeats, sequencing has been the most favored method to be conducted despite its cost. Objective. This study wished to investigate the possibilities of using Polymerase Chain Reaction (PCR) method to screen expanded repeats in isolated hypospadias, as one of the TRE diseases. Materials and Methods. Numbers of CAG repeat in twelve hypospadias patients and one normal male was first predicted from the visualization of PCR products in 3% agarose gel electrophoreses with 20 bp ladder marker before it was finally sequenced. Results. Two samples gave the same exact result, while the rest showed a range of 1-11 bp differences. Statistically, there was a significant difference between the mean of CAG repeats from PCR method (M=26.1667, SD=6.71272) and the mean of CAG repeats from sequencing (M=23.75, SD=5.70685); t(11)= 4.570, p=0.001. Furthermore, the sensitivity of PCR was 100% and the specificity was 83.33%. Conclusion. It can be concluded that PCR method could be used as a screening method in identifying TRE with large numbers of repeats. However, PCR in TRE disease with small numbers of expanded repeats needs to be followed by sequencing in order to obtain the exact numbers of repeats.   Keywords: Trinucleotide Repeat Expansion, Polymerase Chain Reaction, Sequencing, Isolated Hypospadia

Multidisciplinary Management of Disorders of Sex Development in Indonesia, a Prototype in Developing Country

Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper diagnosis. This study reported a multidisciplinary management DSD in Indonesia based on minimal diagnostic facilities and expertise in developing country.Objectives : The purpose of the study is to review the management of DSD patients in Indonesia relates to providing appropriate gender assignment and to improving patients quality of life.Methodology : We analyzed the records of DSD patient admitted to the division of Human Genetics Center for Biomedical Research (CEBIOR) Faculty of Medicine Diponegoro University, Semarang, Indonesia from May 2004 - December 2015. Data were collected and analyzed for physical examination, family pedigree karyotyping, hormonal assays and psychosocial. Other examination such as ultrasonography, Xray and Cytoscopy were also recorded for selected cases. Bimonthly, Sexual Adjustment Team (SAT) meeting was recorded.Results : From the total 617 DSD cases we found 426 cases (69,04 %) with 46, XY DSD, 117 cases (18,96%) with 46,XX DSD and 74 cases (12%) with sex chromosome DSD. Most of the patients in the group of 46, XY DSD are Unknown Male Undervirilization (UMU) with 256 cases (60.09%). As the majority cases of 46, XX DSD was Congenital Adrenal Hyperplasia with 81 cases (69.23%). The remaining cases were Androgen Action Disorder (AAD) with 140 cases (32.86%), 46, XY DSD Gonadal Dysgenesis with 30 cases (7.04%), Androgen Excess Disorders with 3 cases (2.56%), Defect of Mullerian Development with 19 cases (16,24%), 3 cases (2.56%) of Androgen Excess and 3 cases (2.56%) of 46, XX Gonadal Dysgenesis.Conclusion : Comprehensive management for DSD Patients help patient in diagnosis, gender assignment and support patient to improve quality of life. This multidisciplinary of DSD team is the only team in Indonesia that can be used as a model for other center in Indonesia as well as other developing countries with minimal diagnostic facilities

Profile of Hypospadias Cases in Central Java, Indonesia

Background: Hypospadia is believed to be a multifactorial disease. The risk factors that may induce the formation of hypospadias are environmental factors, endocrine disruptors, and genetic factors. The aim of this study was to describe the profile of hypospadias patients who visited the Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.Methods: This study is an observational study, using patients' medical record in CEBIOR from 2010 to 2012. The hypospadias cases were classified into syndromic, isolated and severe hypospadias based on their phenotype. The history of pregnancy, birth characteristics, and family history of the patients were described.Results: There were 120 cases of hypospadias, consisted of 48.33% severe hypospadias, 41.67% mild isolated hypospadias and 10% syndromic hypospadias. There were 38.33% hypospadias cases whose mothers were being exposed to repellant USAge and 39.17% cases whose fathers were smoking. Forty (33.33%) probands' mothers were aged above 35 years old when they gave birth to their affected son.Conclusion: Majority of hypospadias cases were severe and mild isolated. Environtmental factors including maternal age more than 35 years old, use of repellant, and smoking fathers were found in this study

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia

Disorder of sex development (DSD) patients in Indonesia most often do not receive a proper diagnostic evaluation and treatment. This study intended to categorize 88 Indonesian patients in accordance with the new consensus DSD algorithm. Diagnostic evaluation including clinical, hormonal, genetic, imaging, surgical, and histological parameters was performed. Fifty-three patients were raised as males, and 34 as females. Of 22 patients with 46, XX DSD, 15 had congenital adrenal hyperplasia, while in one patient, an ovarian Leydig cell tumor was found. In all 58 46, XY DSD patients, 29 were suspected of a disorder of androgen action (12 with an androgen receptor mutation), and in 9, gonadal dysgenesis was found and, in 20, severe hypospadias e.c.i. Implementation of the current consensus statement in a resource-poor environment is very difficult. The aim of the diagnostic workup in developing countries should be to end up with an evidence-based diagnosis. This is essential to improve treatment and thereby to improve the patients' quality of life