Patient reported outcome measures in Waldenström macroglobulinaemia: A real-world data analysis from the WMUK Rory Morrison Registry.

Waldenström macroglobulinaemia (WM) is an incurable chronic B-cell malignancy, but highly responsive to treatment. Treatments include fixed-duration chemotherapy and continuous oral chemoimmunotherapy. In this expanding field, it is important to have reliable information on the impact of the various therapies on patients' quality of life (QoL). Patient reported outcome measures (PROMs) are increasingly recognised as important to understand patient experience of disease beyond traditional clinical outcome measures. Four QoL questionnaires (EORTC QLQ-C30 [European Organisation for Research and Treatment of Cancer quality of life core questionnaire], BIPQ [Brief Illness Perception Questionnaire], HADS [Hospital Anxiety and Depression Scale], EQ-5D-5L [EuroQoL 5-dimensional descriptive system questionnaire]) are embedded in the UK national WM registry, the Rory Morrison Registry. We reviewed the results from a snapshot of PROMs. As of November 2021, 155 patients completed PROM data with 98% completion rate across all 58 questions. Complete clinical information was available for 52 patients. The majority of QoL questions (69%) failed to elicit a notable median response. Only four questions elicited statistically significant responses when comparing groups, and these were exclusively found in the EuroQoL-5D-5L and HADS questionnaires. Our data suggest that widely used questionnaires may not be suitable for patients with WM. We advocate the development of WM-specific outcome measures to overcome this.

Mastectomy Without Drains Reduces Cost with No Detriment to Patient Outcome.

Introduction  Use of drains after mastectomy remains highly variable. This study aimed to establish whether simple mastectomy managed without a drain would cost less than the same procedure managed with a drain and whether there would be any difference in complications. Methods  Prospective data were collected on all patients undergoing simple mastectomy ± sentinel lymph node biopsy over sixteen months. Surgeons decided intra-operatively whether to place a drain. Data included operative details, mastectomy weight, length of stay and postoperative complications. Costing data were identified by combining hospital finance costs for admission and follow-up appointments along with the cost of consumables. Results  One hundred and thirty mastectomies were performed on 119 patients. There was a significant difference in mastectomy weight between drain group patients (n=80, median: 730g) and no drain group patients (n=50, median: 424g) (p=<0.001). The mean cost for drain group patients was £639.77 whilst for the no drain group was £365.46, indicating a potential unit saving of £21944.93 over sixteen months. Length of stay was shorter in the no drain group (range: 1-2 days) than the drain group (range: 1-4 days). The presence or absence of drains did not influence complication rates, with no change in seroma interventions (p=0.803). Conclusions  Managing simple mastectomy patients without a drain resulted in no increase in complications or subsequent interventions for seroma. Significant cost savings to both the hospital and to the patient can be achieved by omitting drain use. Routine use of drains in patients undergoing simple mastectomy ± SNB may be unnecessary and costly.

Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology.

Patients with biallelic mutations for Huntington disease (HD) are rare. We present a 46-year-old female with two expanded Huntingtin (HTT) alleles with just one known affected parent. This is the first reported patient with molecular studies performed to exclude HTT uniparental disomy (UPD). The proband had biparental inheritance of HTT alleles (42/44 CAG repeats). Given the negative UPD results, the proband's unaffected mother either had a reduced penetrance allele that expanded into the full mutation range during transmission to our patient or an unknown full HTT mutation and died before symptom onset, unlikely given no family history of HD and asymptomatic at age 59. We made the novel observation in our literature review that most patients with biallelic HD did not have two full HTT mutations. Most had one HTT allele that was in the intermediate or reduced penetrance ranges or 40 CAG repeats, the lowest limit of the full mutation range. Although the number of patients is small, when an allele in these size ranges was present, generally the age of HD onset was in the 50s. If the second HTT allele had >45 repeats, then onset was typically 20s-30s. While similar ages of onset have been reported for patients with one or two HTT mutations, patients with biallelic mutations may have later onset if an expanded HTT allele has ≤40 CAG repeats. Finally, we propose that "biallelic mutations" or "compound heterozygosity" are more accurate descriptive terms than "homozygosity" when there are two non-identical expanded HTT alleles.

A European Competence Framework for Industrial Pharmacy Practice in Biotechnology.

The PHAR-IN ("Competences for industrial pharmacy practice in biotechnology") looked at whether there is a difference in how industrial employees and academics rank competences for practice in the biotechnological industry. A small expert panel consisting of the authors of this paper produced a biotechnology competence framework by drawing up an initial list of competences then ranking them in importance using a three-stage Delphi process. The framework was next evaluated and validated by a large expert panel of academics (n = 37) and industrial employees (n = 154). Results show that priorities for industrial employees and academics were similar. The competences for biotechnology practice that received the highest scores were mainly in: "Research and Development", '"Upstream" and "Downstream" Processing', "Product development and formulation", "Aseptic processing", "Analytical methodology", "Product stability", and "Regulation". The main area of disagreement was in the category "Ethics and drug safety" where academics ranked competences higher than did industrial employees.

Diagnosis and management of osteoporosis.

Osteoporosis is a common disorder with significant morbidity and mortality. Clinical risk factors can identify patients most likely to have osteoporosis. Patients who have decreased bone mass are candidates for calcium and vitamin D supplementation; those who have more severe bone loss should be screened for secondary causes and started on medical therapy. First-line therapy most often is a bisphosphonate. Estrogen reduces hip fractures in women. Recombinant parathyroid hormone is reserved for patients who have failed or are not candidates for bisphosphonate therapy. Follow-up dual-emission x-ray absorptiometry is reserved for when a change in bone mineral density will make a difference in therapy.

Screening tests for renal artery stenosis: a case-series from an Australian tertiary referral centre.

BACKGROUND: Renal artery stenosis is a common, correctable cause of hypertension and renal impairment, with multiple screening tests available to aid diagnosis. Data assessing the accuracy of screening tests are mostly derived from tight 'experimental' protocols and the application of these tests to large-scale clinical practice is not clear. Our aim was to investigate physician preferences and diagnostic accuracy of screening tests for renal artery stenosis when applied to clinical practice in a large, Australian tertiary referral centre. METHODS: We investigated all renal angiograms performed at our institution between September 2002 and September 2004, as referred by renal physicians. We accessed hospital and physician records of all patients to document demographics, clinical history, screening investigations, source of screening and angiogram results. The series involved 75 consecutive patients who had 79 screening investigations (four patients had two screening tests). RESULTS: The case series showed that 19 (24%) patients did not have any screening investigations prior to angiography. Duplex ultrasonography was the most utilised screening test, being used in 20 (33%) of the remaining 60 screening tests. Computed tomographic angiography (CTA) was used in 19 (32%), magnetic resonance imaging in 13 (22%) and renal scintigraphy was used in four (7%) screening procedures. Magnetic resonance angiography was the most accurate screening test with a positive predictive value of 92%, followed by duplex ultrasonography with 88% and CTA was relatively inaccurate, with a positive predictive value (PPV) of 58% (P = 0.036). Clinical suspicion alone was inaccurate with a PPV of 40%, except in previously treated renal artery stenosis (PPV 89%). CONCLUSION: Duplex ultrasonography was the most utilised screening investigation amongst the physicians of our referral base. Magnetic resonance angiography and duplex ultrasonography had good positive predictive values, while CTA may not be as reliable as previously reported when applied to a large, non-selective clinical practice.

Native American Y chromosomes in Polynesia: the genetic impact of the Polynesian slave trade.

Since Thor Heyerdahl asserted that Polynesia was first colonized from the Americas (Heyerdahl 1950), geneticists have sought--but have not found--any evidence to support his theories. Here, Native American Y chromosomes are detected on the Polynesian island of Rapa. However, this, together with other odd features of the island's Y-chromosomal gene pool, is best explained as the genetic impact of a 19th century Peruvian slave trade in Polynesia. These findings underscore the need to account for history before turning to prehistory and the value of archival research to understanding modern genetic diversity. Although the impact of the Atlantic slave trade on the distribution of modern genetic diversity has been well appreciated, this represents the first study investigating the impact of this underappreciated episode on genetic diversity in the Pacific.