The Tyrosinemia Type I

Tyrosinemia type 1 is an autosomal recessive disorder which can be detected as early as possible after birth so that it may be treated or alleviated immediately. If untreated, the disorder can cause dysfunctions of liver, kidney, or neurological disease. There are 3 kinds of tyrosinemia; that is, tyrosinemia type 1, 2, and 3. Tyrosinemia type 1 is the most severe of these disorders. To treat or alleviate the disorder, it can be performed using nitisinone drug along with diet management and liver transplantation. Other methods, which may be used to reduce tyrosinemia type 1, are gene therapy, and, of course, genetic counseling

Overcome Alkaptonuria

Alkaptonuria (AKU) is an autosomal recessive inborn error metabolism resulting from deficiency of homogentisic acid oxidase (homogentisate 1, 2-dioxygenase) that is required in the metabolism of phenylalanine and tyrosine during the step when homogentisic acid is converted to maleylacetoacetate. AKU is a rare disease affecting approximately 1 in 250,000 people. In certain areas such as Jordan, parts of South India and Slovakia, AKU may be up to ten times higher. It is caused by mutations in the HGD gene. Treatment of AKU may be performed using drugs such as nitisinone and anti-inflammatories. Researches are underway using nitisinone in order to treat AKU. Other methods, which may be used to reduce alkaptonuria, are therapy gene and, of course, genetic counseling. Keywords: Alkaptonuria, alcaptonuria, AKU, HG

Factors Related to Delayed Antiretroviral Therapy Initiation in HIV Patients

Introduction. Increase access towards antiretroviral therapy (ART) contribute to global decrease of HIV-associated morbidity and mortality. Time to initiation of ART in eligible HIV-infected patients is associated with reduction in mortality and morbidity. Delayed initiation of antiretroviral therapy can lead to increased of mortality rate more than 10% compare to early initiation. Methods. This study was a cross sectional study among adult HIV patients in Out-patient Clinic of HIV Integrated Clinic Cipto Mangunkusumo General Hospital who started ARV therapy for the first time (ART-naïve patients) enrolled from January 2013 to December 2014. The data were extracted from medical records to identify factors associated with delayed initiation ART among HIV patient. Delayed initiation ART was defined as eligible patients didn’t initiate ART within 10 weeks after the diagnosis of HIV infection. Factors identified were gender, education level, employment, marital status, WHO clinical stage, BMI, functional status, and the presence of opportunistic infection. Logistic regression test was used to find factors associated with delayed initiation of ART. Results. There were 444 subjects in this study, which consisted of 107 patients (24.1%) who delayed initiation of ART and 337 patients (75.9%) who didn’t delayed initiation of ART. Based on the bivariate analysis, there were three variables statistically significance, which were advanced WHO clinical stage (p<0.001), lower functional status (p<0.001) and the presence of opportunistic infection (p<0.001). Further multivariate analysis showed that there were two variables associated with delayed initiation of ART, which were advanced WHO clinical stage (OR: 2.92, 95%CI 1.53-7.40, p=0.02) and the presence of opportunistic infection (OR 1.99, 95%CI 1.21-3.29, p=0.01). Conclusions. Advanced WHO clinical stage and the presence of opportunistic infections are factors associated with delayed initiation of ART among HIV patients

A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians.

BACKGROUND: There is reason to expect strong genetic influences on the risk of developing active pulmonary tuberculosis (TB) among latently infected individuals. Many of the genome wide linkage and association studies (GWAS) to date have been conducted on African populations. In order to identify additional targets in genetically dissimilar populations, and to enhance our understanding of this disease, we performed a multi-stage GWAS in a Southeast Asian cohort from Indonesia. METHODS: In stage 1, we used the Affymetrix 100 K SNP GeneChip marker set to genotype 259 Indonesian samples. After quality control filtering, 108 cases and 115 controls were analyzed for association of 95,207 SNPs. In stage 2, we attempted validation of 2,453 SNPs with promising associations from the first stage, in 1,189 individuals from the same Indonesian cohort, and finally in stage 3 we selected 251 SNPs from this stage to test TB association in an independent Caucasian cohort (n = 3,760) from Russia. RESULTS: Our study suggests evidence of association (P = 0.0004-0.0067) for 8 independent loci (nominal significance P < 0.05), which are located within or near the following genes involved in immune signaling: JAG1, DYNLRB2, EBF1, TMEFF2, CCL17, HAUS6, PENK and TXNDC4. CONCLUSIONS: Mechanisms of immune defense suggested by some of the identified genes exhibit biological plausibility and may suggest novel pathways involved in the host containment of infection with TB.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

Evaluation of hydroxychloroquine or chloroquine for the prevention of COVID-19 (COPCOV): A double-blind, randomised, placebo-controlled trial

Background: Hydroxychloroquine (HCQ) has proved ineffective in treating patients hospitalised with Coronavirus Disease 2019 (COVID-19), but uncertainty remains over its safety and efficacy in chemoprevention. Previous chemoprevention randomised controlled trials (RCTs) did not individually show benefit of HCQ against COVID-19 and, although meta-analysis did suggest clinical benefit, guidelines recommend against its use. Methods and findings: Healthy adult participants from the healthcare setting, and later from the community, were enrolled in 26 centres in 11 countries to a double-blind, placebo-controlled, randomised trial of COVID-19 chemoprevention. HCQ was evaluated in Europe and Africa, and chloroquine (CQ) was evaluated in Asia, (both base equivalent of 155 mg once daily). The primary endpoint was symptomatic COVID-19, confirmed by PCR or seroconversion during the 3-month follow-up period. The secondary and tertiary endpoints were: asymptomatic laboratory-confirmed Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection; severity of COVID-19 symptoms; all-cause PCR-confirmed symptomatic acute respiratory illness (including SARS-CoV-2 infection); participant reported number of workdays lost; genetic and baseline biochemical markers associated with symptomatic COVID-19, respiratory illness and disease severity (not reported here); and health economic analyses of HCQ and CQ prophylaxis on costs and quality of life measures (not reported here). The primary and safety analyses were conducted in the intention-to-treat (ITT) population. Recruitment of 40,000 (20,000 HCQ arm, 20,000 CQ arm) participants was planned but was not possible because of protracted delays resulting from controversies over efficacy and adverse events with HCQ use, vaccine rollout in some countries, and other factors. Between 29 April 2020 and 10 March 2022, 4,652 participants (46% females) were enrolled (HCQ/CQ n = 2,320; placebo n = 2,332). The median (IQR) age was 29 (23 to 39) years. SARS-CoV-2 infections (symptomatic and asymptomatic) occurred in 1,071 (23%) participants. For the primary endpoint the incidence of symptomatic COVID-19 was 240/2,320 in the HCQ/CQ versus 284/2,332 in the placebo arms (risk ratio (RR) 0.85 [95% confidence interval, 0.72 to 1.00; p = 0.05]). For the secondary and tertiary outcomes asymptomatic SARS-CoV-2 infections occurred in 11.5% of HCQ/CQ recipients and 12.0% of placebo recipients: RR: 0.96 (95% CI, 0.82 to 1.12; p = 0.6). There were no differences in the severity of symptoms between the groups and no severe illnesses. HCQ/CQ chemoprevention was associated with fewer PCR-confirmed all-cause respiratory infections (predominantly SARS-CoV-2): RR 0.61 (95% CI, 0.42 to 0.88; p = 0.009) and fewer days lost to work because of illness: 104 days per 1,000 participants over 90 days (95% CI, 12 to 199 days; p < 0.001). The prespecified meta-analysis of all published pre-exposure RCTs indicates that HCQ/CQ prophylaxis provided a moderate protective benefit against symptomatic COVID-19: RR 0.80 (95% CI, 0.71 to 0.91). Both drugs were well tolerated with no drug-related serious adverse events (SAEs). Study limitations include the smaller than planned study size, the relatively low number of PCR-confirmed infections, and the lower comparative accuracy of serology endpoints (in particular, the adapted dried blood spot method) compared to the PCR endpoint. The COPCOV trial was registered with ClinicalTrials.gov; number NCT04303507. Interpretation: In this large placebo-controlled, double-blind randomised trial, HCQ and CQ were safe and well tolerated in COVID-19 chemoprevention, and there was evidence of moderate protective benefit in a meta-analysis including this trial and similar RCTs. Trial registration: ClinicalTrials.gov NCT04303507; ISRCTN Registry ISRCTN10207947

PhD, BS of Animal Science, and Faculty Member Based on Indonesia Education System

Academic degrees include PhD and BS of Animal Science -- Other. The author got these academic degrees based on Indonesia Education System, and according to the Minahasa culture or motto. However, the author got the degrees in the author's institution established by the author in 1984. The faculty member is in Animal Science -- Other

Fasting

A paper about the role of fasting as set out in the Bible, and its implication for contemporary Christian life

Baptism

In this article, the author digs regarding baptism based on the information from the scriptures only. It shows that in order to enter the kingdom of God, people must be baptized into Christ. There is no other foundation

Fasting

A paper about the role of fasting as set out in the Bible, and its implication for contemporary Christian life