PubMed Health⌕ Search

Biomedical subjects

Fred Kavalier

Publications and source records attributed to Fred Kavalier.

4 recordsLinked to original sources
PubMed2006

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.

We describe a fetus from an intracytoplasmic sperm injection (ICSI) pregnancy with severe facial clefts, receding jaw, preauricular skin tags, postaxial hexadactyly, bi-lobed right lung, supernumerary cranial bone, and dilated lateral ventricles of the brain. Using a combination of G-banding, fluorescence in situ hybridization (FISH), whole chromosome paints (WCPs), subtelomere probes, and multicolor banding (MCB), the karyotype was found to include a de novo unbalanced highly complex chromosome rearrangement (hCCR) involving chromosomes 3, 12, and 15 with seven breakpoints, and including monosomy for two separate regions of chromosome 12.

Abnormalities, Multiple↗
PubMed2004

Patients' and professionals' opinions of services for people at an increased risk of colorectal cancer: an exploratory qualitative study.

OBJECTIVES: To explore the views and opinions of patients with a family history of colorectal cancer, and of primary and secondary care health professionals, on how to improve current services for individuals with a family history of colorectal cancer. DESIGN: Focus group and interview study. SETTING: Primary and secondary care centres in south east London, UK. PARTICIPANTS: A total of 53 people participated in this qualitative study: 18 individuals with a family history of colorectal cancer were interviewed in three focus groups and 35 health professionals were interviewed either in focus groups or individually. Visual qualitative analysis of transcribed interviews was used to identify the key themes which emerged. MAIN OUTCOME MEASURES: Interviewees' needs, views and opinions of current services and ways to improve them. RESULTS: Several areas of concern were identified. The role of primary care needs to be clarified. Education and information about services should be provided for patients and caregivers and better support is required for those undergoing screening and surveillance. Methods to ensure effective and meaningful risk communication are inadequate and require further exploration. Standardisation of care is required to ensure consistency of advice and treatment. CONCLUSION: These interviews revealed substantial shortfalls in the provision of services for patients at increased genetic risk of colorectal cancer. Current systems for the assessment of risk, delivery of advice, and for surveillance are inconsistent and sometimes maybe inadequate. The role of primary care physicians in service delivery requires clarification. Significant opportunities exist for the development of new, more appropriate models of service to provide better standards of care.

Colonoscopy↗