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. A recent study of cyclin D1 in gastric cancer was associated with lymph node involvement, metastasis, poor prognosis, and a lack of response to platinum chemotherapy. Aim: This study aimed to determine the relationships among cyclin D1 expression, clinicopathological features, and 2-year survival rates in gastric cancer. Materials and Methods: This retrospective cohort study used medical records and paraffin blocks of patients suffering from gastric cancer at Cipto Mangunkusumo General Hospital, Jakarta, between 2015 and 2020. Data analysis was performed using Statistical Package for the Social Sciences (SPSS) version 20. The data were collected from 39 subjects, most of whom experienced eating disorder (69.23%), weight loss (76.92%), melena (53.85%), and anemia (51.28%). Tumor location was mostly found in the cardia and corpus of the gaster. Results: This study found that the proportion of overexpression of cyclin D1 was 30.77%. Cyclin D1 expression was greater in subjects with liver metastases (50% vs. 14.8%, P = 0.04). Cyclin D1 expression was not associated with tumor location, tumor, node, and metastasis (TNM) stage, or histopathological findings. Analysis of the 2-year survival rate did not find any differences between patients with cyclin D1 overexpression and those with cyclin D1 negative. Conclusions: Cyclin D1 expression was associated with liver metastases in patients with gastric cancer.

Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia.

Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. DSM-IV-TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Scale. Cytogenetic analysis, polymerase chain reaction, and Southern blot for FMR1 gene analysis were carried out to confirm the diagnosis of fragile X syndrome. The fragile X site and FMR1 full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15%) children aged 3-17 years (57 boys and 8 girls), respectively. The Fragile X laboratory workup is essential in the evaluation of patients with ASD. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available.

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.

Women with the fragile X mental retardation 1 (FMR1) premutation often have concerns about neurological and medical problems, as they become older and if their fathers experience fragile X-associated tremor/ataxia syndrome (FXTAS). We therefore determined the prevalence of these problems in 110 daughters of men with FXTAS [mean age of 44.8 years (SD 8.2)]. We compared them with 43 female controls with normal FMR1 alleles [mean age of 43.8 years (SD 8.1)] and 36 premutation carrier daughters of parents with the premutation, but without FXTAS [mean age of 43.5 years (SD 7.7)]. Overall, daughters of men with FXTAS have a higher prevalence of neurological symptoms including tremor, balance problems, memory problems, and dizziness, menopausal symptoms, and psychiatric involvement including sleep problems and anxiety when compared with non-carrier female controls. Reported balance problems and menopausal symptoms were significantly higher in daughters of men with FXTAS than in carrier daughters of parents without FXTAS, suggesting the potential influence of background gene effects. Therefore, neurological, psychological and gynecological surveillance should be warranted to better provide appropriate counseling, management and care for daughters of men with FXTAS. Biological markers of additional gene effects that predispose individuals with the premutation to FXTAS need to be developed.