Dexterous manipulation: differential sensitivity of manipulation and grasp forces to task requirements.

How humans coordinate digit forces to perform dexterous manipulation is not well understood. This gap is due to the use of tasks devoid of dexterity requirements and/or the use of analytical techniques that cannot isolate the roles that digit forces play in preventing object slip and controlling object position and orientation (pose). In our recent work, we used a dexterous manipulation task and decomposed digit forces into , the internal force that prevents object slip, and , the force responsible for object pose control.

Modern smartphone usage can negatively impact postural balance while standing on dynamically challenging grounds.

Background: While several studies have explored the impacts of smartphone usage on postural balance, their tasks are limited to texting or calling, and the studies were performed on rigid ground.

Research Questions: METHODS: Sixteen healthy young adults were recruited to perform two smartphone tasks: taking selfies and posting statuses on social media; participants were standing on four different grounds: rigid, foam-based compliant, robot-simulated compliant, and robot-simulated oscillatory grounds. The center-of-pressure (CoP) under each foot was recorded via force plates and the net CoP was calculated.

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Background: In women at increased risk for breast and ovarian cancer, the identification of a mutation in breast cancer gene 1 (BRCA1) and BRCA2 has important implications for screening and prevention counseling. Uncertainty regarding the role of BRCA1 and BRCA2 testing in high-risk women from diverse ancestral backgrounds exists because of variability in prevalence estimates of deleterious (disease-associated) mutations in non-white populations. In this study, the authors examined the prevalence of BRCA1 and BRCA2 mutations in an ethnically diverse group of women who were referred for genetic testing.

Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.

Objective: We have identified a large kindred with multiple endocrine neoplasia 2A (MEN 2A) due to a mutation at RET codon 609 that results in a cysteine to serine substitution, a mutation previously identified in only one case in the literature. We characterized the clinical phenotype of the kindred and the biochemical mechanism of this new mutation.

Patients And Design: The index case, a 42-year-old woman, presented with pheochromocytoma.

A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics.

The lack of readily available, patient-derived materials for molecular genetic testing of many heterozygous or rare disorders creates a major impediment for laboratory proficiency and quality control procedures. The paucity of clinically derived mutation-positive samples could be surmounted if it were possible to construct artificial samples containing mutations of interest that would sufficiently resemble natural human samples. Such samples could then function as acceptable and realistic performance evaluation challenges and quality control reagents for recipient laboratories.

Factors affecting the detection rate of human papillomavirus.

Background: Maximizing the accuracy of human papillomavirus (HPV) detection from a single sample is important for clinical and research purposes. The purpose of this study was to determine whether cyclic hormonal variation, recent sexual intercourse, interval between samplings, and the technique used to sample affect the detection of HPV.

Methods: This study was a prospective, longitudinal, randomized controlled trial.

The relationship of APOE genotype to neuropsychological performance in long-term cancer survivors treated with standard dose chemotherapy.

Purpose: The primary purpose of this study was to compare the neuropsychological performance of long-term survivors of breast cancer and lymphoma treated with standard dose chemotherapy who carried the epsilon 4 allele of the Apolipoprotein E (APOE) gene to those who carry other APOE alleles.

Patients And Methods: Long-term survivors (mean=8.8+/-4.

Tampon samplings with longer cervicovaginal cell exposures are equivalent to two consecutive swabs for the detection of high-risk human papillomavirus.

Background: Self-sampling for human papillomavirus (HPV) is useful for triage of ASCUS Papanicolaou (Pap) smears. Tampons with 10-second cervicovaginal cell exposure can detect HPV but appear to be less efficient than two consecutive swabs.

Goal: The purpose of this study was to evaluate increased vaginal tampon exposures for detecting high-risk HPV.

Randomized clinical trial of PCR-determined human papillomavirus detection methods: self-sampling versus clinician-directed--biologic concordance and women's preferences.

Objective: The purpose of this study was to compare the high-risk human papillomavirus detection rates from self-sampled swabs and tampons with standard clinician-directed speculum sampling and to assess women's acceptance of self-sampling methods.

Study Design: One hundred three women who required a colposcopy underwent order randomization of the human papillomavirus sampling technique. Kappa and McNemar test statistical results were used to measure the agreement between clinician-directed and self-sampling techniques for high-risk types of human papillomavirus and the acceptance of self-sampling techniques.

Loss of heterozygosity on chromosome 11q22-23 in melanoma is associated with retention of the insertion polymorphism in the matrix metalloproteinase-1 promoter.

Matrix metalloproteinase-1 (MMP-1, collagenase-1), which degrades interstitial collagen, is expressed at high levels by some tumor cells and is thought to enhance their invasiveness and metastatic potential. We recently described a common single nucleotide insertion polymorphism (2G allele) at -1,607 bp in the promoter of the MMP-1 gene that creates a binding site for the ETS family of transcription factors, and that is associated with enhanced transcription of this gene and increased enzyme activity. Allelic loss at the MMP-1 locus on chromosome 11 occurs in many tumors including melanoma, an invasive and aggressive cancer.

Amplification of the MLL region in acute myeloid leukemia.

We report amplification of the MLL gene region (11q23-->11qter) in a 72-year-old woman with myelodysplastic syndrome progressing to acute myelomonocytic leukemia and in a 51-year-old man with a history of hairy cell leukemia and secondary myelodysplasia progressing to acute myelogenous leukemia. The amplicons containing MLL were shown by molecular cytogenetics to extend from chromosomal region 11q23 to the distal long arm of chromosome 11 and to be present in the first patient in five copies on a large ring chromosome and present in the second patient also in five copies on two derived chromosomes. Other karyotypic findings in the first patient included del(5q), +8, and der(21)t(17;21), resulting in the loss of a copy of 17p, whereas deletion 7q was observed in the second patient.

Utility of RET mutation analysis in multiple endocrine neoplasia type 2.

Objective: To review the role of RET mutation analysis in the diagnosis of multiple endocrine neoplasia type 2 (MEN 2) and in presymptomatic screening for this disorder.

Data Sources: Review of the medical literature and current clinical practice.

Conclusions: RET mutation analysis is a sensitive and specific test for MEN 2.

Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion.

Kearns-Sayre syndrome (KSS) and Pearson's marrow-pancreas syndrome (PMPS) are rare disorders caused by the same molecular defect, one of several deletion mutations in mitochondrial DNA (mtDNA). KSS is an encephalomyopathy with ophthalmoplegia, retinal degeneration, ataxia, and endocrine abnormalities. PMPS is a disorder of childhood characterized by refractory anemia, vacuolization of bone marrow cells, and exocrine pancreas dysfunction.

Recommended policies for uses of human tissue in research, education, and quality control. Ad Hoc Committee on Stored Tissue, College of American Pathologists.

As recipients of tissue and medical specimens, pathologists and other medical specialists regard themselves as stewards of patient tissues and consider it their duty to protect the best interests of both the individual patient and the public. The stewardship of slides, blocks, and other materials includes providing, under appropriate circumstances, patient materials for research, education, and quality control. The decision to provide human tissue for such purposes should be based on the specific (ie, direct patient care) and general (ie, furthering medical knowledge) interests of the patient and of society.

Human acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) gene organization and evidence that the 4.3-kilobase ACAT-1 mRNA is produced from two different chromosomes.

Acyl-CoA:cholesterol acyltransferase (ACAT) plays important roles in cellular cholesterol homeostasis. Four human ACAT-1 mRNAs (7.0, 4.

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally derived. Paternal origin of the duplication has been associated with a normal phenotype.

Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).

Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15.

Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma.

Germline mutations in exons 10, 11, and 16 of the RET protooncogene are associated with the heritable cancer syndromes multiple endocrine neoplasia (MEN) type 2A, familial medullary thyroid carcinoma (FMTC), and MEN type 2B. Nonradioactive mutation analysis with nondenaturing Phastgels and the Phast System was performed on DNA amplified by the polymerase chain reaction from exons 10, 11, and 16 of the RET protooncogene from patients with MEN 2A, MEN 2B, or FMTC. The analysis requires approximately 45-90 min for electrophoresis and 35 min for staining.

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

Objective: Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder. The 3 recognized subtypes include MEN 2A, characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (pheo), and hyperparathyroidism (HPT); MEN 2B, by MTC, pheo, and characteristic stigmata; and familial MTC (FMTC), by the presence of MTC only. The purpose of this study was to establish the relationship between specific mutations and the presence of certain disease features in MEN 2 which could help in clinical decision making.