Cuff Size Variation Across Manufacturers of Home Blood Pressure Devices: A Current Patient Dilemma.

BACKGROUND: The American Heart Association (AHA) recommends cuff sizes of blood pressure (BP) monitoring devices based on patient arm circumference, which is critical for accurate BP measurement. This study aimed to assess cuff size variation across validated BP devices and to examine the degree of alignment with the AHA recommendations. METHODS: Data on home BP devices were obtained from the US BP Validated Device Listing website and listed cuff sizes were compared against AHA recommendations: small adult (22-26 cm), adult (27-34 cm), large (35-44 cm), and extra-large (XL) (45-52 cm). RESULTS: There were 42 home validated BP devices from 13 manufacturers, and none offered cuffs that were aligned with the AHA recommendations. Over half of the devices (22, 52.4%) were compatible with only a broad-range cuff, generally excluding arm sizes larger than 44 cm. Only 5 devices from 4 manufacturers offered a cuff labeled "XL," and of these, only 3 devices had sizes that covered the AHA XL range. Terminology lacked consistency with manufacturers using: different labels to describe the same-sized cuffs (e.g., 22-42 cm was labeled "integrated," "standard," "adult," "large," and "wide range"); the same labels to describe differently sized cuffs (e.g., cuffs labeled "large" were sized 22-42 cm, 32-38 cm, 32-42 cm, 36-45 cm). CONCLUSIONS: Manufacturers of US home BP devices employ inconsistent terminologies and thresholds for cuff sizes, and sizes were not aligned with AHA recommendations. This lack of standardization could pose challenges for clinicians and patients attempting to select a properly sized cuff to support hypertension diagnosis and management.

Gender Differences in Recommended Treatment Decisions among Breast Cancer Patients: A Study Using the National Cancer Database.

BACKGROUND: Previous studies have explored surgery refusal among female breast cancer patients. However, little attention has been given to other therapies in both females and males. The goal of this study was to determine the potential role of gender on recommended hormone therapy, chemotherapy, radiation therapy, and surgery refusal and to describe other determinants of refusal. MATERIALS AND METHODS: A retrospective study of the National Cancer Database (NCDB) between 2004 and 2016 was conducted. The outcome was whether patients accepted or refused the recommended treatment. We examined four different outcome variables (hormone therapy, chemotherapy, radiation therapy, and surgery) relation to gender and other factors. RESULTS: A total of 906,342 breast cancer patients met the eligibility criteria for hormone therapy, 1,228,132 for surgery, 596,229 for chemotherapy, and 858,050 for radiation therapy. The odds of refusing hormone therapy and surgery in males were 17% (AOR = 0.83; 95% CI: 0.75-0.92) and 33% (AOR=0.67; 95% CI: 0.50-0.90) lower compared to female patients, respectively. The odds of refusing radiation therapy were 14% higher in males compared to females (AOR=1.14; 95% CI:1.03-1.30). Older age and lack of insurance were significantly associated with each treatment refusal. CONCLUSION: Female patients tend to refuse hormone therapy and surgery compared to males. A marginally statistically significant gender differences was found for radiotherapy refusal. The providers and other stakeholders can utilize the current findings to identify the risk groups and barriers associated with refusal for each treatment and to develop interventions.

Disease causing homozygous variants in the human hairless gene.

BACKGROUND: Atrichia with papular lesions (APL) is a rare irreversible form of complete hair loss inherited in autosomal recessive manner. Hair loss is often followed by the appearance of multiple keratin-filled cysts or papules on exterior parts of the body. This phenotype results due to mutations in the human hairless gene (HR) mapped on chromosome 8p21.3. The present study was aimed to search for disease-causing sequence variants in the HR gene in five consanguineous families exhibiting features of APL. METHODS: Linkage in five Pakistani lineal consanguineous families, displaying features of APL, was tested using microsatellite markers flanking the HR gene on chromosome 8p21.3. After constructing the haplotypes, variants in the gene HR were searched by dideoxy-chain termination sequencing. RESULTS: Haplotype analysis established linkage in all five families to the HR gene located on chromosome 8p.21.3. Subsequently, sequencing HR identified a novel homozygous nonsense variant (c.2541G>A, p.Trp847*) in one and previously reported two pathogenic variants (p.Cys690*, p.Pro1157Arg) in the other four families. CONCLUSION: Mutations identified extend the spectrum of mutations in the HR gene resulting in APL. Characterizing the clinical spectrum resulting from the disease-causing homozygous variants in the HR gene will direct clinical care of the family members.

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

BACKGROUND: Woolly hair (WH) is a hair abnormality that is primarily characterised by tightly curled hair with abnormal growth. METHODS: In two unrelated consanguineous Pakistani families with non-syndromic autosomal recessive (AR) WH, homozygosity mapping and linkage analysis identified a locus within 17q21.1-q22, which contains the type I keratin gene cluster. A DNA sample from an affected individual from each family underwent exome sequencing. RESULTS: A homozygous missense variant c.950T>C (p.(Leu317Pro)) within KRT25 segregated with ARWH in both families, and has a combined maximum two-point LOD score of 7.9 at Ï´=0. The KRT25 variant is predicted to result in disruption of the second α-helical rod domain and the entire protein structure, thus possibly interfering with heterodimerisation of K25 with type II keratins within the inner root sheath (IRS) of the hair follicle and the medulla of the hair shaft. CONCLUSIONS: Our findings implicate a novel gene involved in human hair abnormality, and are consistent with the curled, fragile hair found in mice with Krt25 mutations, and further support the role of IRS-specific type I keratins in hair follicle development and maintenance of hair texture.