Monitoring and evaluation of childhood stunting reduction program based on fish supplement product in North Sumatera, Indonesia.

The government of Serdang Bedagai Regency initiated a supplementation program to reduce the high prevalence of stunting in the area by delivering extra supplementation, which were nutritious biscuits from national government and fish-based supplement produced from local resources. A 6-month study from April 2022 to September 2022 was conducted to monitor and evaluate the government program that involved 219 under-5-year-old children with height-for-age Z-score (HAZ-score) below - 2. We observed the stunting prevalence reduction by 37.00%, where 81 children recovered from stunting (HAZ-score ≥ - 2). Furthermore, the mean HAZ-score and WHZ-score (Weight-for-Height Z-score) were monitored to significantly improve by 0.97 ± 1.45 (P-value = 1.74e-14) and 1.00 ± 2.18 (P-value = and 2.40e-8), subsequently. The most significant improvement in HAZ-score was monitored among children receiving fish-based supplements with 1.04 ± 1.44 improvement (P-value = 6.59e-17). Then, a significant WHZ-score improvement was reported from children consuming fish-based supplements and a combination of fish-based supplements with nutritious biscuits (P-value = 2.32e-8 and 5.48e-5) by 1.04 ± 2.29 and 0.83 ± 1.84, respectively. The results of the observation become evidence that the program could effectively reduce the prevalence of stunting in children below five years old, especially among children who received locally produced fish-based supplements.

Congenital adrenal hyperplasia complicated by gonadotropin-dependent precocious puberty.

Precocious puberty, characterised by the early appearance of secondary sexual characteristics, poses challenges in diagnosis and management. Here, we describe a case of precocious puberty diagnosed in a boy in middle childhood, who presented with progressive phallus enlargement, pubic hair development and increased aggressive behaviour. Hormonal evaluation confirmed the diagnosis of congenital adrenal hyperplasia (CAH), complicated by gonadotropin-dependent precocious puberty. The case highlights the importance of assessment of testicular volume in a patient presenting with precocious puberty. Symmetrical testicular enlargement in a patient with CAH suggests premature activation of the hypothalamic-pituitary-gonadal axis. The patient received glucocorticoid therapy to suppress androgen production related to CAH and gonadotropin-releasing hormone analogue therapy to control premature activation of the hypothalamic-pituitary-gonadal axis. Follow-up visits showed regression of secondary sexual characteristics and improved growth velocity.

Fear of Cancer Recurrence in Differentiated Thyroid Cancer Survivors: A Systematic Review.

Background: Despite excellent survival rates, health-related quality of life detriments are common in differentiated thyroid cancer survivors and can be driven by fear of cancer recurrence (FCR). This review aims to report the incidence of FCR in thyroid cancer survivors and synthesize evidence regarding contributing factors. An overview and appraisal of the range of tools used to measure FCR is presented. Methods: A systematic review of the English literature was performed. The search across six electronic databases generated 3414 studies. Two reviewers independently screened the citations and full-text articles, of which 31 were included. The data were extracted independently by two reviewers. Results: The incidence of FCR was reported in 27/31 studies and ranged from 15% to 91%. Direct comparisons regarding incidence and severity of FCR were not possible due to heterogeneity in cut-points used to define FCR. A total of eight validated tools were used to measure FCR across all studies, with five studies using self-developed nonvalidated items. There was minimal repetition of validated tools and no clear consensus as to a preferred survey tool. Factors influencing FCR were reported in 11 studies. There was minimal overlap of factors influencing FCR. Risk factors contributing to increased FCR reported in more than one study included young age and an upcoming clinical appointment. Male gender and higher education levels were reported in more than one article as protective. No literature evaluating interventions to address FCR in thyroid cancer survivors was found. Conclusion: FCR is common in thyroid cancer survivors, but significant heterogeneity in the current evidence base limits assessment of incidence, severity, or risk factors. There is a need to use validated tools to assess FCR in both research and clinical contexts. Reliable assessment of FCR may permit routine assessment of FCR in clinical practice and allow interventions to be prospectively evaluated to optimize the holistic well-being of thyroid cancer survivors.

Exploring an l-arabinose isomerase from cryophile bacteria Arthrobacter psychrolactophilus B7 for d-tagatose production.

A novel l-arabinose isomerase (L-AI) from Arthrobacter psychrolactophilus (Ap L-AI) was successfully cloned and characterized. The enzyme catalyzes the isomerization of d-galactose into a rare sugar d-tagatose. The recombinant Ap L-AI had an approximate molecular weight of about 258 kDa, suggesting it was an aggregate of five 58 kDa monomers and became the first record as a homo-pentamer L-AI. The catalytic efficiency (kcat/Km) and Km for d-galactose were 0.32 mM-1 min-1 and 51.43 mM, respectively, while for l-arabinose, were 0.64 mM-1 min-1 and 23.41 mM, respectively. It had the highest activity at pH 7.0-7.5 and 60 °C in the presence of 0.250 mM Mn2+. Ap L-AI was discovered to be an outstanding thermostable enzyme that only lost its half-life value at 60 °C for >1000 min. These findings suggest that l-arabinose isomerase from Arthrobacter psychrolactophilus is a promising candidate for d-tagatose mass-production due to its industrially competitive temperature.

Combined Laparoscopic Open Surgical Approach for De Garengeot's Hernia Containing an Inflamed Appendix: A Case Report.

De Garengeot hernia represents a rare variant of femoral hernia in which the appendix is a part of the hernial contents. It was first described in 1731 by a French surgeon, René de Garengeot. In 1785, Hevin was the first to perform an appendectomy to address acute appendicitis within the context of a femoral hernia. The development of acute appendicitis in the femoral hernia sac becomes a surgical emergency of the acute abdomen.

Sheehan's syndrome presenting as massive pericardial effusion, ventricular tachycardia and diabetes insipidus.

Sheehan's syndrome (SS) is characterised by pituitary necrosis resulting from postpartum haemorrhage. While SS is uncommon in developed nations, it remains a prevalent cause of hypopituitarism in women, particularly in low/middle-income countries. Clinically, SS is characterised by a deficiency in anterior pituitary hormones; involvement of the posterior pituitary is less common. SS presenting as cardiac tamponade is rare, with only a few reported cases in the literature. In this report, we present the case of a patient with SS who arrived at the emergency department with symptoms of light-headedness, palpitations and dyspnoea. Echocardiography revealed a massive pericardial effusion with cardiac tamponade, and during treatment, the patient experienced ventricular tachycardia and circulatory collapse. The collaboration between various medical specialties, including emergency medicine, cardiology, critical care, endocrinology and radiology, played a crucial role in successful patient management. The multidisciplinary approach allowed for comprehensive care addressing acute cardiac complications and underlying hormonal deficiencies.

Uncovering Congenital Hypothyroidism in Adulthood: A Case Study Emphasizing the Urgency of Screening and Clinical Awareness.

Congenital hypothyroidism (CH) is an endocrine disorder primarily diagnosed during the neonatal period through routine screening. Screening programs have been established in most developed countries. However, routine neonatal screening is not available in India, and the mainstay for diagnosis is clinical awareness. In this report, we present a case of CH diagnosed for the first time in a 20-year-old male who sought medical attention at our hospital's emergency department due to fever and altered sensorium. This case report elucidates the implications of a delayed diagnosis of CH, shedding light on the pivotal role of neonatal screening and the need for enhanced awareness within the healthcare community and among families.

Pseudo-Thrombotic Thrombocytopenic Purpura Due to Severe Vitamin B12 Deficiency: A Case Report.

Vitamin B12 deficiency is common in vegetarians, as meat is a common source of vitamin B12. In this case presentation, a patient presented to his primary care doctor with signs of severe vitamin B12 deficiency anemia. He had elevated lactate dehydrogenase levels, indirect bilirubin, and schistocytes on the blood smear, all pointing toward a hemolytic process. A severe vitamin B12 deficiency was deemed the cause of this hemolytic anemia after ruling out other causes. We highlight the importance of knowing more about this pathogenesis to avoid unnecessary workup and management for an elementary disorder that can result from severe B12 deficiency.

Thyroid cancer patient reported outcome measures in clinical practice: analysing acceptability and optimizing recruitment.

BACKGROUND: Patient reported outcomes measures (PROMs) can provide valuable metrics in clinical trials and cancer registries. To ensure relevance, patient participation must be optimized and PROMs be highly acceptable to patients. There are few data reporting methods to maximize recruitment and a lack of consensus regarding appropriate PROMs for thyroid cancer survivors. METHODS: All patients with a new diagnosis of thyroid (excluding micropapillary and anaplastic) cancer within a single Australian health district between January 2020 and December 2021 were invited to complete PROMs electronically, and self-report ease of use and comprehensiveness of each tool. Participants completed Short Form-12 (SF-12), European Organization of Research and Treatment of Cancer (EORTC-QLQ-C30), City of Hope Quality of Life-Thyroid Version (COH-TV) and Thyroid Cancer Quality of Life Survey (ThyCaQoL). Semi-structured qualitative telephone interviews explored patient priorities. An enhanced, multimodal recruitment strategy was instituted after 12 months due to low response rates. RESULTS: Survey completion improved under enhanced recruitment (37/62, 60% versus 19/64, 30%, P = 0.0007) with no differences in demographic or clinical characteristics. Few (4%-7%) respondents rated surveys as difficult to complete. No single PROM comprehensively captured health-related quality of life, with disease-specific tools performing marginally better (54% ThyCaQoL and 52% CoH-TV) compared to generic tools (38% SF-12 and 42% EOROTC-QLQ-C30). Qualitative data suggested that concurrent diagnoses, and survey invitation prior to surgery, made surveys more difficult to complete. CONCLUSION: A comprehensive and representative assessment of PROMs in thyroid cancer survivors requires the use of multiple survey tools and specialized staff to maximize recruitment.

Changing Colorectal Cancer Trends in Asians: Epidemiology and Risk Factors.

Once an infrequent disease in parts of Asia, the rate of colorectal cancer in recent decades appears to be steadily increasing. Colorectal cancer represents one of the most important causes of cancer mortality worldwide, including in many regions in Asia. Rapid changes in socioeconomic and lifestyle habits have been attributed to the notable increase in the incidence of colorectal cancers in many Asian countries. Through published data from the International Agency for Cancer Research (IARC), we utilized available continuous data to determine which Asian nations had a rise in colorectal cancer rates. We found that East and South East Asian countries had a significant rise in colorectal cancer rates. Subsequently, we summarized here the known genetics and environmental risk factors for colorectal cancer among populations in this region as well as approaches to screening and early detection that have been considered across various countries in the region.

Prevalence of Organ-Specific Autoimmunity in Patients With Type 1 Diabetes Mellitus.

INTRODUCTION: Type 1 diabetes mellitus (T1DM) is associated with other autoimmune disorders that are characterized by presence of organ-specific autoantibodies. The present study was undertaken to assess the prevalence of organ-specific autoantibodies among newly diagnosed T1DM subjects of India and to study its relationship with glutamic acid decarboxylase antibody (GADA). We also compared the clinical and biochemical parameters in GADA-positive and -negative T1DM subjects. METHODS: In a hospital-based cross-sectional study, we studied 61 patients with newly diagnosed T1DM ≤ 30 years of age. T1DM was diagnosed on the basis of acute onset of osmotic symptoms with or without ketoacidosis, severe hyperglycaemia [blood glucose > 13.9 mmol/l (>250 mg/dl)] and insulin requirement from the onset of diabetes. Subjects were screened for autoimmune thyroid disease (thyroid peroxidase antibody [TPOAb]), celiac disease (tissue transglutaminase antibody [tTGAb]), and gastric autoimmunity (parietal cell antibody [PCA]). RESULTS: Of the 61 subjects, more than one-third (38%) had at least one positive organ-specific autoantibody. In particular, 13 (21.3%) were found to be positive for TPOAb, nine (14.8%) were positive for tTGAb and 11 (18%) were positive for PCA. GADA was positive in 15 (25%) subjects. The frequency of TPOAb tended to be higher in patients who had GADA positivity compared with those with no circulating GADA (40% vs. 15.2%; p=0.07). Subjects positive for GADA were also more likely to be PCA positive compared with those who were GADA negative (40 vs.10.9%, p=0.02). There were no differences in frequency of diabetic ketoacidosis, body mass index, hemoglobin A1C (HbA1c), insulin requirement or fasting C-peptide in GADA-positive and -negative patients. CONCLUSION: We support the recommendation for regular screening of organ-specific autoantibodies, in particular TPOAb, tTGAb and PCA in all patients with T1DM. Detection of these autoantibodies at onset may prevent complications associated with delayed diagnosis of these disorders. We also conclude that there is higher frequency of TPOAb and PCA in GADA-positive T1DM patients as compared to negative ones. However, patients with positive GADA had similar clinical and biochemical parameters compared to GADA-negative subjects. Lastly, low GADA positivity in our study cohort as compared to Western populations suggests the heterogenous nature of T1DM in the Indian population.

Management of Renal Cell Carcinoma With Intra-atrial Tumour Thrombus: A Case Report.

Renal cell cancer (RCC) is at times associated with intravascular tumour thrombus (TT), which in rare cases can extend to the right atrium. The management of RCC with intravascular tumour thrombus is complex and requires a multidisciplinary approach involving urologists, vascular surgeons, and cardiologists. The pre-operative workup is extensive and includes imaging studies to determine the extent of the tumour thrombus and assess the patient's overall health status. Here, we present a case report detailing the operative and perioperative management of a patient presenting with renal cell cancer and intravascular TT.

Type 1 Pulmonary Hypertension and Silicosis in a Bluestone Cutter: A Case Report on Raising Awareness.

This case report describes a patient who developed pneumoconiosis in the form of silicosis and group 1 pulmonary hypertension (PH) due to his unprotected work as a bluestone cutter. Bluestone is a type of sandstone used in outdoor construction commonly in the North-east region of the US. In the literature and to our knowledge, blue stone mining has not been viewed as a risk factor for pneumoconiosis. This case report aims to increase awareness about this occupational hazard. Additionally, it is known that chronic silicosis with massive pulmonary fibrosis can lead to hypoxemia and group 3 pulmonary hypertension. This case, however, demonstrates a possibility of silica dust exposure leading to group 1 pulmonary arterial hypertension.

Gastroduodenal Artery Pseudoaneurysm: A Rare Cause of Upper Gastrointestinal Bleeding and Pancreatic Duct Compression.

Visceral artery pseudoaneurysm as a cause of upper gastrointestinal bleeding is a rare occurrence. These pseudoaneurysms occur most commonly in the splenic artery but have been reported in the gastroduodenal artery as well, albeit with a high mortality rate in cases of rupture. We present a case of a gastroduodenal pseudoaneurysm presenting with upper gastrointestinal bleeding and causing a mass effect on the pancreatic duct as well.

Cancer Risk Score Prediction Based on a Single-Nucleotide Polymorphism Network.

OBJECTIVES: Genome-wide association studies (GWAS) are performed to study the associations between genetic variants with respect to certain phenotypic traits such as cancer. However, the method that is commonly used in GWAS assumes that certain traits are solely affected by a single mutation. We propose a network analysis method, in which we generate association networks of single-nucleotide polymorphisms (SNPs) that can differentiate case and control groups. We hypothesize that certain phenotypic traits are attributable to mutations in groups of associated SNPs. METHODS: We propose a method based on a network analysis framework to study SNP-SNP interactions related to cancer incidence. We employed logistic regression to measure the significance of all SNP pairs from GWAS for the incidence of colorectal cancer and computed a cancer risk score based on the generated SNP networks. RESULTS: We demonstrated our method in a dataset from a case-control study of colorectal cancer in the South Sulawesi population. From the GWAS results, 20,094 pairs of 200 SNPs were created. We obtained one cluster containing four pairs of five SNPs that passed the filtering threshold based on their p-values. A locus on chromosome 12 (12:54410007) was found to be strongly connected to the four variants on chromosome 1. A polygenic risk score was computed from the five SNPs, and a significant difference in colorectal cancer risk was obtained between the case and control groups. CONCLUSIONS: Our results demonstrate the applicability of our method to understand SNP-SNP interactions and compute risk scores for various types of cancer.

Appendiceal Diverticulitis Presenting as Acute Appendicitis: A Case Report.

Appendiceal diverticulitis (AD) is an overlooked pathology that carries a high risk of perforation and associated neoplasia, especially carcinoid tumours and mucinous adenoma. AD may be congenital, but more commonly acquired. It may cause diverticulitis, which causes clinical and radiological signs like those of acute appendicitis, and that may delay the diagnosis till it is confirmed on histopathological examination. Here we report a case of acute AD in a case initially diagnosed as acute appendicitis.

Cancer Risk Score Prediction Based on a Single-Nucleotide Polymorphism Network / 대한의료정보학회지

Objectives@#Genome-wide association studies (GWAS) are performed to study the associations between genetic variants with respect to certain phenotypic traits such as cancer. However, the method that is commonly used in GWAS assumes that certain traits are solely affected by a single mutation. We propose a network analysis method, in which we generate association networks of single-nucleotide polymorphisms (SNPs) that can differentiate case and control groups. We hypothesize that certain phenotypic traits are attributable to mutations in groups of associated SNPs. @*Methods@#We propose a method based on a network analysis framework to study SNP-SNP interactions related to cancer incidence. We employed logistic regression to measure the significance of all SNP pairs from GWAS for the incidence of colorectal cancer and computed a cancer risk score based on the generated SNP networks. @*Results@#We demonstrated our method in a dataset from a case-control study of colorectal cancer in the South Sulawesi population. From the GWAS results, 20,094 pairs of 200 SNPs were created. We obtained one cluster containing four pairs of five SNPs that passed the filtering threshold based on their p-values. A locus on chromosome 12 (12:54410007) was found to be strongly connected to the four variants on chromosome 1. A polygenic risk score was computed from the five SNPs, and a significant difference in colorectal cancer risk was obtained between the case and control groups. @*Conclusions@#Our results demonstrate the applicability of our method to understand SNP-SNP interactions and compute risk scores for various types of cancer.

Intronic Variant of MUTYH Gene Exhibits A Strong Association with Early Onset of Breast Cancer Susceptibility in Indonesian Women Population.

OBJECTIVE: Several studies have recently indicated a huge shifting pattern toward early age onset cases in breast cancer (BC) patients. However, the studies exerted relatively limited to the Caucasian population. This preliminary study is aimed to investigate the genetic risk factors for young BC patients specifically in Indonesia population. METHODS: DNA samples were extracted from 79 BC patients aged younger than 40 years old and 90 healthy samples. These DNA samples were sequenced using Illumina NextSeq 500 platform and preprocessed to extract the single-nucleotide polymorphisms (SNPs) data. Firstly, multiple univariate logistic regressions were performed to test the association between each SNP and BC incidence in young patients. Furthermore, to analyze the polygenic effects derived from multiple SNPs, we employed a multivariate logistics regression. RESULTS: There were only 15 SNPs passed our 95% call rate threshold thus subsequently were used in the association test. One of these variants, rs3219493, emerged to be significantly associated with early-onset BC (p-value = 0.025, OR = 3.750, 95% CI = 1.178-11.938). This result is consistent with the multivariate logistic regression model, where the pertinent variant was found statistically significant (p-value = 0.008, OR = 8.398, 95% CI = 1.720-40.920). This variant was identified as an intronic variant within MUTYH gene which has been reported in several published studies to exhibit an association with the incidence of breast cancer in China, Italy and Sephardi Jews population. However, there is no evident this gene impacting the risk of developing early onset of BC in Indonesia population. CONCLUSION: Despite our limitation in terms of sample size analyzed in this preliminary study, our finding on significant association of intronic MUTHY with the early onset of BC in Indonesia led to a broadened insight of population-based unique aspect to being taken into an in-depth account for and advancement of chemotherapy.

Comparative study of predicted miRNA between Indonesia and China (Wuhan) SARS-CoV-2: a bioinformatics analysis.

BACKGROUND: Several reports on the discovery of SARS-CoV-2 mutations and variations in Indonesia COVID-19 cases led to genomic dysregulation with the first pandemic cases in Wuhan, China. MicroRNA (miRNA) plays an important role in this genetic regulation and contributes to the enhancement of viral RNA binding through the host mRNA. OBJECTIVE: This research is aimed to detect miRNA targets of SARS-CoV-2 and examines their role in Indonesia cases against Wuhan cases. METHODS: SARS-CoV-2 sequences were obtained from GISAID ( https://www.gisaid.org/ ), NCBI ( https://ncbi.nlm.nih.gov ), and National Genomics Data Center ( https://bigd.big.ac.cn/gwh/ ) databases. MiRDB ( https://github.com/gbnegrini/mirdb-custom-target-search ) was used to annotate and predict target human mature miRNAs. For statistical analysis, we utilized a series chi-square test to obtain significant miRNA. DIANA-miRPath v3.0 ( http://www.microrna.gr/miRPathv3 ) analyzed the Gene Ontology of mature miRNAs. RESULT: The statistical results detected five significant miRNAs. Two miRNAs: hsa-miR-4778-5p and hsa-miR-4531 were consistently found in the majority of Wuhan samples, while they were only found in less than half of the Indonesia samples. The other three miRNA, hsa-miR-6844, hsa-miR-627-5p, and hsa-miR-3674, were discovered in most samples in both groups but with a significant difference ratio. Among these five significant miRNA targets, hsa-miR-6844 is the only miRNA that has an association with the ORF1ab gene of SARS-CoV-2. CONCLUSION: The Gene Ontology analysis of five significant miRNA targets indicates a significant role in inflammation and the immune system. The specific detection of host miRNAs in this study shows that there are differences in the characteristics of SARS-CoV-2 between Indonesia and Wuhan.