Low bone mass and impaired fracture healing in mouse models of Trisomy21 (Down syndrome).

Individuals with Down syndrome (DS), the result of trisomy of human chromosome Hsa21 (Ts21), present with an array of skeletal abnormalities typified by altered craniofacial features, short stature and low bone mineral density (BMD). While bone deficits progress with age in both sexes, low bone mass is more pronounced in DS men than women and osteopenia appears earlier. In the current study, the reproductive hormone status (FSH, LH, testosterone) of 17 DS patients (males, ages range 19-52 years) was measured.

Medical Care of Adults With Down Syndrome: A Clinical Guideline.

Importance: Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the unique clinical comorbidities among adults with Down syndrome, there are no clinical guidelines for the care of these patients.

Objective: To develop an evidence-based clinical practice guideline for adults with Down syndrome.

Host genetic susceptibility to Clostridium difficile infections in patients undergoing autologous stem cell transplantation: a genome-wide association study.

Background: Clostridium difficile infection (CDI) is the most common hospital-acquired infection. Unfortunately, genes that identify CDI-susceptible patients have not been well described. We performed a genome-wide association study (GWAS) to determine genetic variants associated with the development of CDI.

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results.

Cholesterol and family history: when genetics matters.

Familial hypercholesterolemia (FH) is an inherited, autosomal codominant disease that increases the risk for cardiovascular mortality by 100 fold. Patients usually have LDL levels above 300 mg/dl. Although signs such as tendon xanthomas, xanthelasmas and corneal arcus may suggest the diagnosis, genetic testing is the'most accurate way of diagnosing FH.

GWAS of 972 autologous stem cell recipients with multiple myeloma identifies 11 genetic variants associated with chemotherapy-induced oral mucositis.

Purpose: High-dose chemotherapy and autologous stem cell transplant (ASCT) to treat multiple myeloma (MM) and other cancers carries the risk of oral mucositis (OM) with sequelae including impaired nutritional and fluid intake, pain, and infectious complications. As a result of these problems, cancer treatment may have to be interrupted or delayed. In this study, we looked beyond OM's known risk factors of renal function and melphalan dose with a genome-wide association study (GWAS) to evaluate whether genetic variants in conjunction with clinical risk factors influence predisposition for OM.

Aneuploidy and skeletal health.

The normal human chromosome complement consists of 46 chromosomes comprising 22 morphologically different pairs of autosomes and one pair of sex chromosomes. Variations in either chromosome number and/or structure frequently result in significant mental impairment and/or a variety of other clinical problems, among them, altered bone mass and strength. Chromosomal syndromes associated with specific chromosomal abnormalities are classified as either numerical or structural and may involve more than one chromosome.

Genetics and cardiovascular disease: the impact of molecular diagnosis.

Information technology is exponentially reducing the cost of genetic testing while multiple clinical applications emerge. Genetic diagnosis increasingly impacts prevention, diagnosis and treatment of disease. In cardiovascular medicine, the establishment of a specific genetic diagnosis may affect management of cardiomyopathy, arrhythmia, connective tissue and metabolic disease.

Low bone turnover and low BMD in Down syndrome: effect of intermittent PTH treatment.

Trisomy 21 affects virtually every organ system and results in the complex clinical presentation of Down syndrome (DS). Patterns of differences are now being recognized as patients' age and these patterns bring about new opportunities for disease prevention and treatment. Low bone mineral density (BMD) has been reported in many studies of males and females with DS yet the specific effects of trisomy 21 on the skeleton remain poorly defined.

Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma.

Objective: To report a novel association between a cancer predisposition syndrome (hereditary leiomyomatosis and renal cell carcinoma [HLRCC]) and male infertility.

Design: Case report.

Setting: University medical center adult genetics clinic.

Cerebellopontine angle tumor in a patient with a maternally inherited SDHD gene mutation.

Acoustic neuromas are the most common tumor in the cerebellopontine angle (CPA) but are rare in the general population. Paragangliomas are rarer still and, in a minority of cases (20%), are known to be caused by errors in the SDHD gene. Mutations in this gene are highly penetrant when inherited paternally but not maternally.

Cancer genetics in primary care.

Primary care physicians are in a unique position to apply recent advances in cancer genetics to the improved care of their patients. Although the impact of our burgeoning knowledge in this area is significant and growing, it is often incompletely understood by the general practitioner. In this article we review the genetic basis of cancer and focus attention on inherited forms of cancer using breast cancer gene 1 (BRCA1) and breast cancer gene 2 (BRCA2) as examples.