PENGEMBANGAN PROGRAM INTERVENSI DINI BERSUMBERDAYA KELUARGA PADA ANAK CEREBRAL PALSY DENGAN HAMBATAN KOMUNIKASI

Penelitian ini dilatarbelakangi oleh kurangnya pemahaman, penerimaan, dan sikap orang tua terhadap hambatan yang dihadapi anak. Hal ini berdampak pada kemampuan keluarga dalam memberikan layanan intervensi dini di rumah. Tujuan dari penelitian ini adalah untuk merumuskan program intervensi dini bersumber daya keluarga yang akan menjadi pedoman orang tua dalam melaksanakan intervensi. Penelitian ini menggunakan pendekatan kualitatif dengan metode deskriptif. Subjek dalam penelitian ini adalah satu keluarga yang memiliki anak Cerebral Palsy dengan hambatan komunikasi di Ciamis. Teknik pengumpulan data yang digunakan adalah observasi, wawancara, dan studi dokumentasi. Hasil penelitian menunjukkan bahwa: 1) anak memiliki hambatan komunikasi yang pencapaian perkembangan komunikasi verbalnya setara dengan anak usia 2-3 tahun dan usia kalender saat ini 5 tahun. 2) rendahnya tingkat pemahaman orangtua terhadap hambatan anak. 3). Rumusan program intervensi dini bersumber daya keluarga ini berdasarkan kondisi objektif serta kebutuhan keluarga dan anak. 4). tingkat pemahaman orang tua mengenai hambatan anak meningkat serta terjadi perubahan sikap dan perilaku orang tua kepada anak;--- The study was motivated by the lack of understanding, acceptance as well as the attitude of the parents toward their child’s obstacles. It somehow has an impact on family’s capacity to give early intervention support at home. This study was aimed at formulating an early intervention program to the child. The study used descriptive qualitative method involving a single family having a child suffering from Cerebral Palsy causing communication barrier at Ciamis. The techniques used in collecting the data were observations, interviews, and document analysis. The study revealed several findings as follows: 1) the child had communication barrier which made her communication verbal developmental stage was equal to 2-3 years old children. 2) The lack of understanding, acceptance and attitude of the parents toward their child’s communication barrier as well as the support in delivering early intervention at home. 3) The early intervention family-based program’s formulation was based on the objective condition as well as the needs’ of both the child and the parents. 4) The level understanding parents of the barriers to child increase and a change in attitudes and behavior of parents to child

The interaction of PP1 with BRCA1 and analysis of their expression in breast tumors

<p>Abstract</p> <p>Background</p> <p>The breast cancer susceptibility gene, <it>BRCA1</it>, is implicated in multiple cellular processes including DNA repair, the transactivation of genes, and the ubiquitination of proteins; however its precise functions remain to be fully understood. Identification and characterization of BRCA1 protein interactions may help to further elucidate the function and regulation of BRCA1. Additionally, detection of changes in the expression levels of <it>BRCA1 </it>and its interacting proteins in primary human breast tumors may further illuminate their role in the development of breast cancer.</p> <p>Methods</p> <p>We performed a yeast two-hybrid study to identify proteins that interact with exon11 of BRCA1 and identified Protein Phosphatase 1β (PP1β), an isoform of the serine threonine phosphatase, PP1. GST-pull down and co-immunoprecipitation assays were performed to further characterize this interaction. Additionally, Real-Time PCR was utilized to determine the expression of <it>BRCA1</it>, <it>PP1</it>α, β and γ in primary human breast tumors and normal breast tissue to identify alterations in the expression of these genes in breast cancer.</p> <p>Results</p> <p>PP1 and BRCA1 co-immunoprecipitate and the region within BRCA1 as well as the specific PP1 interacting domain mediating this interaction were identified. Following mRNA expression analysis, we identified low levels of <it>BRCA1 </it>and variable levels of <it>PP1</it>α and β in primary sporadic human breast tumors. Furthermore, BRCA1, <it>PP1</it>β and PP1γ were significantly higher in normal tissue specimens (BRCA1 p = 0.01, <it>PP1</it>β: p = 0.03, <it>PP1</it>γ, p = 1.9 × 10^-6) compared to sporadic breast tumor samples. Interestingly, we also identified that ER negative tumors are associated with low levels of <it>PP1</it>α expression.</p> <p>Conclusion</p> <p>The identification and characterization of the interaction of BRCA1 with PP1 and detection of changes in the expression of <it>PP1 </it>and genes encoding other BRCA1 associated proteins identifies important genetic pathways that may be significant to breast tumorigenesis. Alterations in the expression of genes, particularly phosphatases that operate in association with BRCA1, could negatively affect the function of BRCA1 or BRCA1 associated proteins, contributing to the development of breast cancer.</p

Response of Estrogen Receptor-Positive Breast Cancer Tumorspheres to Antiestrogen Treatments

Estrogen signaling plays a critical role in the pathogenesis of breast cancer. Because the majority of breast carcinomas express the estrogen receptor ERα, endocrine therapy that impedes estrogen-ER signaling reduces breast cancer mortality and has become a mainstay of breast cancer treatment. However, patients remain at continued risk of relapse for many years after endocrine treatment. It has been proposed that cancer recurrence may be attributed to cancer stem cells (CSCs)/tumor-initiating cells (TICs). Previous studies in breast cancer have shown that such cells can be enriched and propagated in vitro by culturing the cells in suspension as mammospheres/tumorspheres. Here we established tumorspheres from ERα-positive human breast cancer cell line MCF7 and investigated their response to antiestrogens Tamoxifen and Fulvestrant. The tumorsphere cells express lower levels of ERα and are more tumorigenic in xenograft assays than the parental cells. Both 4-hydroxytamoxifen (4-OHT) and Fulvestrant attenuate tumorsphere cell proliferation, but only 4-OHT at high concentrations interferes with sphere formation. However, treated tumorsphere cells retain the self-renewal capacity. Upon withdrawal of antiestrogens, the treated cells resume tumorsphere formation and their tumorigenic potential remains undamaged. Depletion of ERα shows that ERα is dispensable for tumorsphere formation and xenograft tumor growth in mice. Surprisingly, ERα-depleted tumorspheres display heightened sensitivity to 4-OHT and their sphere-forming capacity is diminished after the drug is removed. These results imply that 4-OHT may inhibit cellular targets besides ERα that are essential for tumorsphere growth, and provide a potential strategy to sensitize tumorspheres to endocrine treatment

Tumour necrosis factor and PI3-kinase control oestrogen receptor alpha protein level and its transrepression function

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2410160

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood

Alternative Cyclin D1 Forms a and b Have Different Biological Functions in the Cell Cycle of B Lymphocytes.

International audienc

4-Hydroxy-Tamoxifen-Loaded Liposomes Have Potent Anti-Myeloma Activity.

International audienc

Antioestrogen-Mediated Cell Cycle Arrest and Apoptosis Induction in Breast Cancer and Multiple Myeloma Cells.

International audienc

4-Hydroxytamoxifen Inhibits Proliferation of Multiple Myeloma Cells in Vitro through down-Regulation of c-Myc, up-Regulation of p27Kip1, and Modulation of Bcl-2 Family Members.

International audienc