Lupus eritematosus sistemik pada anak dengan thalassemia beta trait. Laporan kasus

ABSTRACT Ninik Sukartini, Lyana Setiawan, Farida Oesman, Riadi Wirawan, Zakiudin Munasir â Systemic lupus erythematosus in a 9-year-old patient with beta-thalassemia trait. A case report We reported a case of lupus nephritis in a 9-year-old patient with beta-thalassemia trait who was treated in Cipto Mangunkusumo Hospital. The patient presented with bicytopenia, hepatosplenomegaly and lymphadenopathy. Laboratory results revealed hematologic disorder, i.e. hemolytic anemia with positive Coombs\u27 test and thrombocytopenia, positive ANA and antibody to double-stranded DNA, and proteinuria of 1230 mg/24 hrs, which fulfilled 4 criteria of ACR for the diagnosis of systemic lupus erythematosus ISLE). Signs of pericarditis was not found. In the follow up, the patient showed microcytic hypochromic anemia with high transferrin saturation level, leading to hemoglobin analysis which revealed beta thalassemia trait. This case is interesting because this patient didn\u27t present with characteristic clinical features, and because SLE is seldom diagnosed before 16 years of age. Moreover, this patient also suffered from beta thalassemia trait, which is known to be associated with rheumatoid arthritis, another autoimmune disorder. Key words: SLE, lupus nephritis, beta thalassemia trait, childhood ag

Correlation Between Vitreous Advanced Glycation End Products, and D-dimer with Blood HbA1c Levels in Proliferative Diabetic Retinopathy

Background: proliferative diabetic retinopathy (DR) is an advanced form of DR that eventually could lead to blindness. Levels of vitreous advanced glycation end products (AGEs) and D-dimer may reflect the pathological changes in the retina, but only few studies have assessed their correlation with blood hemoglobin A1C (HbA1c) levels. This study aimed to find the association between blood HbA1c levels with vitreous AGEs and D-dimer levels in patients with proliferative DR. Methods: an analytical cross-sectional study was performed in subjects with proliferative DR who underwent vitrectomy. Subjects were divided into 2 subgroups, i.e. uncontrolled (HbA1c >7%) and controlled (HbA1c <7%) groups. Vitreous AGEs and D-dimer levels were assessed; the levels were compared between uncontrolled and controlled hyperglycemic patients. Statistic correlation tests were also performed for evaluating blood HbA1c, vitreous AGEs, and D-dimer levels. Results: a total of 47 patients were enrolled in this study and 32 (68.1%) of them were women. Median vitreous AGEs level was 11.0 (3.0 – 48.0) µg/mL; whereas median vitreous D-dimers level was 5,446.0 (44.0 – 37,394.0 ) ng/mL. The median vitreous AGEs levels was significantly higher in patients with uncontrolled vs. controlled hyperglycemia (14.0 vs. 4.0 mg/mL; p<0.001). There was a significant positive correlation with moderate strength between blood HbA1c level and vitreous AGEs level (r=0.524; r2=0.130; p=0.0001). Blood HbA1c level could be used to predict vitreous AGEs level by using the following calculation: vitreous AGEs = -1.442+ (1.740xblood HbA1c). Vitreous D-dimer levels were not significantly different between uncontrolled and controlled hyperglycemia (median 4607.5 vs. 5701.6 ng/mL; p = 0.458). There was a positive significant correlation between blood HbA1c and vitreous D-dimer levels (r = 0.342; p = 0.019); however the correlation was weak. Vitreous AGEs level had a positive significant correlation with vitreous D-dimer levels (r = 0.292; p = 0.046) and the correlation strength was also weak. Conclusion: median vitreous AGEs levels were significantly higher in proliferative DR patients with uncontrolled than those with controlled hyperglycemia. Blood HbA1c level can be used to assess vitreous AGEs level in patients with proliferative DR by using the following calculation: vitreous AGEs = -1.442+(1.740 x HbA1c). However, the blood HbA1c level can not be used to predict vitreous D-dimer level in patients with proliferative DR

Stigma and Anxiety Levels With Adherence on the Treatment Schedule Patient With HIV/AIDS in Indonesia

The stigma related with HIV/AIDS poses a psychological challenge to people living with HIV/AIDS. Adherence to the treatment schedule is very lmporlanl to reduce the impact of HIV/AIDS. StiSmatization is a 50- cial problem that affects physical health. As a result, the patients are anxious and react negatively to medication adherence. This study analyzes the stitma, anxiety, and adherence to treatment schedules for HIV/AlD5 patienls in Surabaya, lndonesia. Methods:: The present study use.d correlational research, involving 97 respndents, chosen by simple random sampling. The instruments of stigma variable used Berger HIV Stigma scale, variable of anxiety used Zung Self-Rating Anxiety Scale (ZSAS), and variable of adherence to treatment schedules used modified Morisky Medication Adherence Scale-B (MMAS-B) in which all instruments used have been tested for validity with the Cronbach's alpha value > 0.90. Data analysis used the Spearman rho test with the pvalue < O.O5. Results: The results show that there is d relationship between stigma (pvalue = 0.012) and anxiety level (pvalue= 0.02) with adherence to keatment schedules for patients- There is a ne8ative relationship between the stigma and the level of anxiety with treatment schedules in patients. Conclusion: The implication of the research is that stigma and anxiety levels affect the HIV/AIDS patients' treatment schedules. This research suggests that health workers need to provide more coping strategies and educational udates at the beginning of ARV (Antiretroviral) treatment along with the initiation of t-amily gathering activities, and assess the anxiety symptoms of a patient during the therapy so that the patient will adhere to treatment schedules

Genomic profiles of Indonesian colorectal cancer patients [version 2; peer review: 2 approved]

Background: Colorectal cancer (CRC) is one of the most commonly diagnosed cancers worldwide and genetic mutation plays a vital role in CRC development. A previous study has suggested that genetic alterations among Indonesian patients with CRC might differ from those known in developed countries. This study aimed to describe the genomic profiles of Indonesian patients with CRC. Methods: A total of 13 patients were recruited for this study from May to July 2019. Tissue samples were collected, and genomic DNA was extracted from the samples. AmpliSeq for Illumina Cancer HotSpot Panel v2 Next-generation sequencing was used for DNA sequencing and a genome analysis toolkit was used for local realignment around the discovered variants. Results: A total of 45 genes comprising 391 single nucleotide variants (SNVs) with a depth >10 were observed. The genes with the most variants were STK11, SMAD4, EGFR, and ERBB4 and the genes with the most non-synonymous variants were SMAD4, TP53, FGFR3, CDKN2A, and STK11. Genes and SNVs in at least 90% of all samples consisted of 43 genes comprising 286 variants. Genes with the most non-synonymous SNVs were EGFR, SMO, FGFR3, TP53, STK11, CDKN2A. Genes related to the chromosomal instability pathway, such as TP53, SMAD4, KRAS, and APC, are also found in the analysis. Conclusions: Our findings showed that all patients with CRC in this study had genetic mutations in the chromosomal instability pathway. Analysis of genetic mutation of Indonesian patients with CRC might be crucial for advanced targeted therapy and for better clinical outcomes

Systemic lupus erythematosus in a 9-year-old patient with beta-thalassemia trait. A case report

We reported a case of lupus nephritis in a 9-year-old patient with beta-thalassemia trait who was treated in Cipto Mangunkusumo Hospital. The patient presented with bicytopenia, hepatosplenomegaly and lymphadenopathy. Laboratory results revealed hematologic disorder, i.e. hemolytic anemia with positive Coombs' test and thrombocytopenia, positive ANA and antibody to double-stranded DNA, and proteinuria of 1230 mg/24 hrs, which fulfilled 4 criteria of ACR for the diagnosis of systemic lupus erythematosus ISLE). Signs of pericarditis was not found. In the follow up, the patient showed microcytic hypochromic anemia with high transferrin saturation level, leading to hemoglobin analysis which revealed beta thalassemia trait. This case is interesting because this patient didn't present with characteristic clinical features, and because SLE is seldom diagnosed before 16 years of age. Moreover, this patient also suffered from beta thalassemia trait, which is known to be associated with rheumatoid arthritis, another autoimmune disorder.Key words: SLE, lupus nephritis, beta thalassemia trait, childhood ag

Stigma and Anxiety Levels With Adherence on the Treatment Schedule Patient With HIV/AIDS in Indonesia

Introduction: The stigma related with HIV/AIDS poses a psychological challenge to people living with HIV/AIDS. Adherence to the treatment schedule is very important to reduce the impact of HIV/AIDS. Stigmatization is a social problem that affects physical health. As a result, the patients are anxious and react negatively to medication adherence. This study analyzes the stigma, anxiety, and adherence to treatment schedules for HIV/AIDS patients in Surabaya, Indonesia. Methods: : The present study used correlational research, involving 97 respondents, chosen by simple random sampling. The instruments of stigma variable used Berger HIV Stigma scale, variable of anxiety used Zung Self-Rating Anxiety Scale (ZSAS), and variable of adherence to treatment schedules used modified Morisky Medication Adherence Scale-8 (MMAS-8) in which all instruments used have been tested for validity with the Cronbach’s alpha value > 0.90. Data analysis used the Spearman rho test with the p-value ≤ 0.05. Results: The results show that there is a relationship between stigma (p-value = 0.012) and anxiety level (p-value= 0.02) with adherence to treatment schedules for patients. There is a negative relationship between the stigma and the level of anxiety with treatment schedules in patients. Conclusion: The implication of the research is that stigma and anxiety levels affect the HIV/AIDS patients’ treatment schedules. This research suggests that health workers need to provide more coping strategies and educational updates at the beginning of ARV (Antiretroviral) treatment along with the initiation of family gathering activities, and assess the anxiety symptoms of a patient during the therapy so that the patient will adhere to treatment schedule

Amino Acid Profile of Luminal A and B Subtypes Breast Cancer

BACKGROUND: Amino acids are important for proliferation and maintenance of tumor cells. Breast cancer patients were found to have significant changes in the number of amino acids, which are assumed to be correlated with the molecular subtypes of breast cancer. Therefore, current study was conducted to analyze plasma amino acids in breast cancer patients with luminal A and B subtypes.METHODS: Breast cancer and control subjects were recruited, and venous blood was collected for the measurement of plasma amino acids. Total 19 plasma amino acids were measured using reverse-phase high-performance liquid chromatography with C18 column. Mean comparison for normally distributed and homogeneous data was further analzyed using independent sample T-test, with p<0.05 was considered as significant.RESULTS: From total 19 amino acids, only 7 amino acids; cysteine, glutamic acid, histidine, ornithine, threonine, tyrosine, valine, were statistically different between the healthy control and breast cancer subjects. Eventhough no amino acids was found to be statistically different between breast cancer subjects with luminal A and B subtypes, but some amino acids were found to be significantly different when correlated to various breast cancer risk factors.CONCLUSION: Amino acid profile of patients with Luminal A and B subtypes of breast cancer differs compared to healthy controls and is also correlated with breast cancer risk factors. Increase in cysteine level in Luminal A subtype patients and decrease of alanine and leucine in Luminal B subtype patients can be used as a biomarker.KEYWORDS: amino acid, plasma, breast cancer, risk factor, biomarke

Correlation Between Vitreous Advanced Glycation End Products, and D-dimer with Blood HbA1c Levels in Proliferative Diabetic Retinopathy

Background: proliferative diabetic retinopathy (DR) is an advanced form of DR that eventually could lead to blindness. Levels of vitreous advanced glycation end products (AGEs) and D-dimer may reflect the pathological changes in the retina, but only few studies have assessed their correlation with blood hemoglobin A1C (HbA1c) levels. This study aimed to find the association between blood HbA1c levels with vitreous AGEs and D-dimer levels in patients with proliferative DR. Methods: an analytical cross-sectional study was performed in subjects with proliferative DR who underwent vitrectomy. Subjects were divided into 2 subgroups, i.e. uncontrolled (HbA1c >7%) and controlled (HbA1c <7%) groups. Vitreous AGEs and D-dimer levels were assessed; the levels were compared between uncontrolled and controlled hyperglycemic patients. Statistic correlation tests were also performed for evaluating blood HbA1c, vitreous AGEs, and D-dimer levels. Results: a total of 47 patients were enrolled in this study and 32 (68.1%) of them were women. Median vitreous AGEs level was 11.0 (3.0 – 48.0) µg/mL; whereas median vitreous D-dimers level was 5,446.0 (44.0 – 37,394.0 ) ng/mL. The median vitreous AGEs levels was significantly higher in patients with uncontrolled vs. controlled hyperglycemia (14.0 vs. 4.0 mg/mL; p<0.001). There was a significant positive correlation with moderate strength between blood HbA1c level and vitreous AGEs level (r=0.524; r2=0.130; p=0.0001). Blood HbA1c level could be used to predict vitreous AGEs level by using the following calculation: vitreous AGEs = -1.442+ (1.740xblood HbA1c). Vitreous D-dimer levels were not significantly different between uncontrolled and controlled hyperglycemia (median 4607.5 vs. 5701.6 ng/mL; p = 0.458). There was a positive significant correlation between blood HbA1c and vitreous D-dimer levels (r = 0.342; p = 0.019); however the correlation was weak. Vitreous AGEs level had a positive significant correlation with vitreous D-dimer levels (r = 0.292; p = 0.046) and the correlation strength was also weak. Conclusion: median vitreous AGEs levels were significantly higher in proliferative DR patients with uncontrolled than those with controlled hyperglycemia. Blood HbA1c level can be used to assess vitreous AGEs level in patients with proliferative DR by using the following calculation: vitreous AGEs = -1.442+(1.740 x HbA1c). However, the blood HbA1c level can not be used to predict vitreous D-dimer level in patients with proliferative DR