Global perspective of psychosocial care of patients with differences of sex development from low-income countries.

Objective: Management of Differences of Sex Development (DSD) is complex and in resource limited settings the psychosexual and psychosocial aspects of DSD care have received limited attention. This review aims to explore recent literature on psychosocial care of DSD in low and upper middle-income countries (L/UMIC).

Materials And Methods: Scientific databases were searched and papers on management of DSD were reviewed according to predefined inclusion criteria.

Free cortisol and free 21-deoxycortisol in the clinical evaluation of congenital adrenal hyperplasia.

Context: Some patients with classic congenital adrenal hyperplasia (CAH) survive without glucocorticoid treatment. Increased precursor concentrations in these patients might lead to higher free (biological active) cortisol concentrations by influencing the cortisol-protein binding. In 21-hydroxylase deficiency (21OHD), the most common CAH form, accumulated 21-deoxycortisol (21DF) may further increase glucocorticoid activity.

46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description.

Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) is characterized by underproduction of cortisol and overproduction of adrenal androgens. These androgens lead to a variable degree of virilization of the female external genitalia in 46,XX individuals. Especially in developing countries, diagnosis is often delayed and 46,XX patients might be assigned as males.

Apolipoproteine and Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.

In this study, the potential role and interaction of the and genes on the penetrance of fragile X-associated tremor/ataxia syndrome (FXTAS) and on the IQ trajectory were investigated. FXTAS was diagnosed based on molecular, clinical and radiological criteria. Males with the premutation (PM) over 50 years, 165 with and 34 without an FXTAS diagnosis, were included in this study and were compared based on their () and variant () genotypes.

Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia.

The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards genetic research and its healthcare applications, including genetic testing. Unfortunately, there has been a delay in enacting public policies related to the genetics professionals as well as the diagnosis, treatment, and prevention of genetic diseases in Indonesia. This research was conducted to build an overview of genetic knowledge and public attitudes toward genetic testing among Indonesian undergraduates.

Prevalence and factors associated with celiac disease in high-risk patients with functional gastrointestinal disorders.

Celiac disease (CD) is an autoimmune disease of the small intestine triggered by the consumption of gluten-containing foods in individuals with a genetic predisposition. CD was a rare disease until 20 years ago, when the prevalence increased. Currently, there is no data on the prevalence of CD in high-risk adult populations in Indonesia, even though there is a trend of increasing gluten consumption.

Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management.

We conducted a cross-sectional study to describe the health care problems of children with Down syndrome in Central Java, Indonesia. A total of 162 children (81 boys, 81 girls) with Down syndrome were included. Congenital heart defects and hypothyroidism were found in about 50%, followed by vision and hearing problems in 27.

Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey.

The expansion of newborn screening (NBS) for congenital hypothyroidism (CH) is essential to reducing the number of preventable intellectual disabilities in children. Because of logistical issues, including geographic extremes, distinct cultures, and 4.8 million births annually, Indonesia has struggled to achieve universal NBS coverage.

Cyclin D1 expression, clinicopathological characteristics, and 2-year survival rate of gastric cancer in Cipto Mangunkusumo General Hospital.

Background: Cyclin D1 is a protein that can increase the proliferation of cancer cells. Its expression has been found in various malignancies, including gastric cancer. Cyclin D1 examinations have not been routinely performed for gastric cancer cases in Indonesia.

Childhood Obesity as a Global Problem: a Cross-sectional Survey on Global Awareness and National Program Implementation.

Objective: The rising global epidemic of childhood obesity is a major public health challenge. Despite the urgency, there is a lack of data on the awareness and implementation of preventative measures. The aim of this study was to identify areas for improvement in the prevention and management of childhood obesity worldwide.

Factors influencing illness uncertainty in parents of children with congenital adrenal hyperplasia in a developing country: A cross-sectional study.

Background: Illness uncertainty in parents of children with congenital adrenal hyperplasia (CAH) refers to parents' inability to create meaning in events related to their children having CAH. This may influence their role in caring for children with CAH.

Objective: The study aimed to determine factors associated with illness uncertainty experienced by parents of children with CAH in a developing country.

Management of dyspepsia and Helicobacter pylori infection: the 2022 Indonesian Consensus Report.

Dyspepsia still becomes a major challenge in upper gastrointestinal disease in Indonesia. This disease often correlated with Helicobacter pylori infection. However, the prevalence of this bacterium is generally low in Indonesia.

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.

[This corrects the article DOI: 10.3389/fendo.2022.

Genomic profiles of Indonesian colorectal cancer patients.

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.

Depression Symptoms and Inflammation in Chronic Functional Constipation Patients.

Background: Inflammation in chronic functional constipation (CFC) occurs systemically and has association with depressive symptoms. Biomarkers of inflammation can be assessed by the neutrophil to lymphocyte ratio and platelet to lymphocyte ratio. These inflammation biomarkers are stable, cheap, and widely available.

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries.

Objective: Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow-up. The aim of this study is to evaluate steroid measurement in hair as a diagnostic tool to identify and monitor CAH in these patients.

Design: A method was developed to measure steroids in hair, the stability of steroids in hair was assessed, and the concentration range in healthy volunteers was determined.

A Combination of Virgin Coconut Oil and Extra Virgin Olive Oil Elicits Superior Protection Against Doxorubicin Cardiotoxicity in Rats.

Objectives: The use of the chemotherapy agent doxorubicin (DOX) is associated with free radical formation that may lead to cardiotoxicity. Virgin coconut oil (VCO) and extra virgin olive oil (EVOO) are plant-based oil that is rich in antioxidants. This study examined the protective effects of VCO and EVOO combination to reduce DOX acute cardiotoxicity in rats.

Cytochrome b-245 Alpha Chain Gene Variants and Arterial Function in Indonesian Short Stature Children.

Background: The association between short stature, undernutrition and the risk to cardiovascular disease has been clinically established. Genetic factor, particularly the variants in cytochrome b-245 alpha chain () gene, which alter the formation of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase level, might affect arterial function. This study aimed to observe the association between single nucleotide variants (SNVs) of the gene and the arterial function of short stature children to understand the reason why some people with short stature develop cardiovascular disease.

Colorectal cancer patients in a tertiary hospital in Indonesia: Prevalence of the younger population and associated factors.

Background: An increasing trend in colorectal cancer (CRC) occurring at younger ages has been observed worldwide, even though incidence is declining in the general population. Most currently available guidelines still recommend CRC screening for older populations, despite an alarming rise in early-onset CRC incidence. Risk stratification is necessary to further determine the population most at risk for early-onset CRC.

Familiarity and genetic literacy among medical students in Indonesia.

Background: There is a lack of genetic knowledge among health care professionals especially in some developing countries such as Indonesia. Based on our experience, genetic disorders receive less attention in medical education and professionals. This study aims to determine the familiarity and literacy of genetics among medical students in Indonesia.

Attitudes of Indonesian health science undergraduates toward sexuality in individuals with intellectual disabilities.

Background: Sexuality is a fundamental part of the lives of human beings. However, a significant inequality exists regarding the right of an individual with intellectual disabilities.

Aims: This study aimed to explore the attitudes of undergraduate health science students toward sexuality in individuals with intellectual disability (ID) in Indonesia.