2019

The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy (2019)

Posted on by

Type of publication:
Journal article

Author(s):
Jabbari E.; Woodside J.; Tan M.M.X.; Morris H.R.; Pavese N.; Bandmann O.; Ghosh B.C.P.; Massey L.A.; *Capps E.;Warner T.T.; Lees A.J.; Revesz T.; Holton J.L.; Williams N.M.; Grosset D.G.

Citation:
Movement Disorders; Sep 2019; vol. 34 (no. 9); p. 1307-1314

Abstract:
Background: Studies on early-onset presentations of progressive supranuclear palsy (PSP) have been limited to those where a rare monogenic cause has been identified. Here, we have defined early-onset PSP (EOPSP) and investigated its genetic and clinico-pathological profile in comparison with late-onset PSP (LOPSP) and Parkinson's disease (PD).
Method(s): We included subjects from the Queen Square Brain Bank, PROSPECT-UK study, and Tracking Parkinson's study. Group comparisons of data were made using Welch's t-test and Kruskal-Wallis analysis of variance. EOPSP was defined as the youngest decile of motor age at onset (<=55 years) in the Queen Square Brain Bank PSP case series.
Result(s): We identified 33 EOPSP, 328 LOPSP, and 2000 PD subjects. The early clinical features of EOPSP usually involve limb parkinsonism and gait freezing, with 50% of cases initially misdiagnosed as having PD. We found that an initial clinical diagnosis of EOPSP had lower diagnostic sensitivity (33%) and positive predictive value (38%) in comparison with LOPSP (80% and 76%) using a postmortem diagnosis of PSP as the gold standard. 3/33 (9%) of the EOPSP group had an underlying monogenic cause. Using a PSP genetic risk score (GRS), we showed that the genetic risk burden in the EOPSP (mean z-score, 0.59) and LOPSP (mean z-score, 0.48) groups was significantly higher (P < 0.05) when compared with the PD group (mean z-score, -0.08).
Conclusion(s): The initial clinical profile of EOPSP is often PD-like. At the group level, a PSP GRS was able to differentiate EOPSP from PD, and this may be helpful in future diagnostic algorithms.

Link to full-text [NHS OpenAthens account required]

Expanding the clinical spectrum of dermal hyperneury. Report of nine new cases and review of literature (2019)

Posted on by

Type of publication:
Journal article

Author(s):
Ieremia, Eleni; Marušić, Zlatko; Mudaliar, Vivek; *Kelly, Susan; Gonzalvo Rodriguez, Pablo; McNiff, Jennifer M; LeBoit, Philip E; Calonje, Eduardo

Citation:
Histopathology; Nov 2019; vol. 75 (no. 5); p. 738-745

Abstract:
AIMS Dermal hyperneury is defined as the hypertrophy of small nerves in the dermis. It has been described in a variety of settings. We present a series of nine new cases with distinctive clinical presentation and review the existing literature. The aim of the study is to summarise the clinical, histopathological and immunohistochemical findings in a case series of dermal hyperneury with unique clinical presentation. METHODS AND RESULTS Nine cases were identified from the referral practice of one of the authors. Clinical characteristics, including demographic details were collated. The histopathological features and novel immunohistochemical findings were analysed. Four cases presented with multiple skin lesions. Clinical evaluation revealed no associated syndromic stigmata. The histology in all cases was that of dermal hyperneury. Immunohistochemistry for phosphatase and tensin homolog (PTEN) and RET was supportive of the lack of syndromic association. CONCLUSION The presentation of dermal hyperneury with multiple cutaneous lesions and no syndromic associations is distinctive and the study with PTEN and RET immunohistochemistry is previously undescribed. Comparison to recent reports of multiple nonsyndromic mucocutaneous neuromas is discussed.

Link to full-text [NHS OpenAthens account required]

Altmetrics:

Preoperative anemia and outcomes in cardiovascular surgery: systematic review and meta-analysis (2019)

Posted on by

Type of publication:
Systematic Review

Author(s):
*Padmanabhan, Hari; Siau, Keith; *Curtis, Jason; Ng, Alex; Menon, Shyam; Luckraz, Heyman; Brookes, Matthew J

Citation:
The Annals of Thoracic Surgery. Dec 2019; vol. 108 (no. 6); p. 1840-1848

Abstract:
BACKGROUND Pre-operative anemia is common in patients scheduled for cardiac surgery. However, its effect on postoperative outcomes remains controversial. This meta-analysis aimed to clarify the impact of anemia on outcomes following cardiac surgery.METHODS A literature search was conducted on MEDLINE, Embase, Cochrane, and Web of Science databases. The primary outcome was 30-day postoperative or in-hospital mortality. Secondary outcomes included acute kidney injury (AKI), stroke, blood transfusion, and infection. A meta-analytic model was used to determine the differences in the above postoperative outcomes between anemic and non-anemic patients. RESULTS Out of 1103 studies screened, 22 met the inclusion criteria. A total of 23624 (20.6%) out of 114277 patients were anemic. Anemia was associated with increased mortality (odds ratio [OR] 2.74, 95% confidence interval [CI] 2.32-3.24; I2=69.6%; p<0?001), AKI (OR 3.13, 95% CI 2.37-4.12; I2=71.1%; p<0?001), stroke (OR 1.46, 95% CI 1.24-1.72; I2=21.6%; p<0?001), and infection (OR 2.65, 95% CI 1.98-3.55; I2=46.7%; p<0?001). More anemic patients were transfused than non-anemic (33.3 versus 11.9%). No statistically significant association was found between mortality and blood transfusion (OR 1.35, 95% CI 0.92-1.98; I2=83.7%; p=0.12) but we were not able to compare mortality with or without transfusion in those who were or were not anemic. CONCLUSIONS Preoperative anemia is associated with adverse outcomes following cardiac surgery. These findings support the addition of preoperative anemia to future risk prediction models, and as a target for risk modification.

Altmetrics

The prevalence of mild moderate distress in patients with end-stage renal disease: Results from a patient survey using the emotion thermometers in four hospital Trusts in the West Midlands, UK (2019)

Posted on by

Type of publication:
Journal article

Author(s):
Damery S.; Sein K.; Combes G.; Brown C.; *Nicholas J. ; Baharani J.

Citation:
BMJ Open; May 2019; vol. 9 (no. 5), e027982

Abstract:
Objectives To assess the prevalence of mild-To-moderate distress in patients with end-stage renal disease (ESRD) and determine the association between distress and patient characteristics. Design Cross-sectional survey using emotion thermometer and distress thermometer problem list. Setting Renal units in four hospital Trusts in the West Midlands, UK. Participants Adult patients with stage 5 chronic kidney disease who were: (1) On prerenal replacement therapy. (2) On dialysis for less than 2 years. (3) On dialysis for 2 years or more (4) With a functioning transplant. Outcomes The prevalence of mild-To-moderate distress, and the incidence of distress thermometer problems and patient support needs. Results In total, 1040/3730 surveys were returned (27.9%). A third of survey respondents met the criteria for mild-To-moderate distress (n=346; 33.3%). Prevalence was highest in patients on dialysis for 2 years or more (n=109/300; 36.3%) and lowest in transplant patients (n=118/404; 29.2%). Prevalence was significantly higher in younger versus older patients (chi 2 =14.33; p=0.0008), in women versus men (chi 2 =6.63; p=0.01) and in black and minority ethnic patients versus
patients of white ethnicity (chi 2 =10.36; p=0.013). Over 40% of patients (n=141) reported needing support. More than 95% of patients reported physical problems and 91.9% reported at least one emotional problem. Conclusions Mild-To-moderate distress is common in patients with ESRD, and there may be substantial unmet support needs. Regular screening could help identify patients whose distress may otherwise remain undetected. Further research into differences in distress prevalence over time and at specific transitional points
across the renal disease pathway is needed, as is work to determine how best to support patients requiring help.

Link to full-text [no password required]

Altmetrics

A rare case of unilateral hemifacial spasm and facial palsy associated with an abnormal anatomical variant of the posterior basilar circulation (2019)

Posted on by

Type of publication:
Journal article

Author(s):
*Chan J.; Bowyer D.J.; Jolly K.; *Darr A.

Citation:
Annals of the Royal College of Surgeons of England; Jun 2019, 101: e147–e149

Abstract:
Tortuous vertebral arteries are a rare anatomical variant. Mild tortuosity is usually asymptomatic whereas severe tortuosity may present with ischaemic symptoms or compressive symptoms (focal neurological deficit). While a resulting hemifacial spasm has been previously described, sparse literature exists for its association with facial palsy. We present a rare case of facial spasm along with facial palsy in a 67-year-old woman who was found to have an anatomical variant in the posterior basilar circulation with an ectatic basilar artery and significantly displaced posterior vertebral artery impinging on the facial nerve.

Link to full-text [NHS OpenAthens account required]

Real-world Effectiveness and Safety of Pazopanib in Patients With Intermediate Prognostic Risk Advanced Renal Cell Carcinoma (2019)

Posted on by

Type of publication:
Journal article

Author(s):
Procopio G.; Bamias A.; Schmidinger M.; Hawkins R.; Sanchez A.R.; Estevez S.V.; *Srihari N.; Kalofonos H.; Bono P.; Pisal C.B.; Hirschberg Y.; Dezzani L.; Ahmad Q.; Rodriguez C.S.; Jonasch E.

Citation:
Clinical Genitourinary Cancer; Jun 2019; vol. 17 (no. 3), p. e526-e533

Abstract:
Introduction: The objective of this study was to determine the effectiveness and safety of pazopanib in patients with intermediate-risk advanced/metastatic renal cell carcinoma in the PRINCIPAL study (NCT01649778).
Patients and Methods: Patients had clear-cell advanced/metastatic renal cell carcinoma and met intermediate risk International Metastatic Renal Cell Carcinoma Database Consortium (IMDC) and Memorial Sloan Kettering Cancer Center (MSKCC) criteria. Assessments included progression-free survival, overall survival, objective response rate, and safety. We also evaluated effectiveness based on number of risk factors, age, and performance status (PS), as well as safety in older and younger patients.
Result(s): Three hundred sixty three and 343 intermediate-risk MSKCC and IMDC patients were included, respectively. The median progression-free survival was 13.8 months (95% confidence interval [CI], 10.7-18.1 months) and 7.4 months (95% CI, 6.2-10.3 months) for patients with 1 and 2 MSKCC risk factors, respectively, and 13.1 months (95% CI, 10.7-18.1 months) and 8.1 months (95% CI, 6.4-10.7 months) for patients with 1 and 2 IMDC risk factors, respectively. The median overall survival was not reached and was 15.2 months (95% CI, 12.3-26.5 months) for patients with 1 and 2 MSKCC risk factors, respectively, and 33.9 months (95% CI, 33.9 months to not estimable) and 19.4 months (95% CI, 14.3 months to not estimable) with 1 and 2 IMDC risk factors, respectively. A lower overall response rate was observed with Eastern Cooperative Oncology Group PS >= 2 (vs. PS < 2). All-grade treatment-related adverse events occurred in approximately 63% of patients, and the safety profile among older and younger patients was similar.
Conclusion(s): Outcomes with pazopanib in intermediate-risk patients suggest that patients can be further stratified by number of risk factors (1 vs. 2) and Eastern Cooperative Oncology Group PS (< 2 vs. >= 2) to more accurately predict outcomes.Patients with intermediate-risk advanced renal cell carcinoma are a heterogeneous population, having either 1 or 2 risk factors. It is unclear whether all patients in this risk category should be treated similarly. A secondary analysis of the PRINCIPAL study of pazopanib found that
patients can be stratified by number of risk factors and Eastern Cooperative Oncology Group performance status to more accurately predict outcomes.

Failure of drip and suck in postoperative ileus: A faulty non-perforated NG tube (2019)

Posted on by

Type of publication:
Journal article

Author(s):
*Bristow D.; *Shaw J.

Citation:
BMJ Case Reports; Jun 2019; vol. 12 (no. 6)

Abstract:
A 55-year-old woman developed a postoperative ileus with associated nausea and vomiting following an
elective laparotomy. A wide bore nasogastric (NG) tube was inserted for gastric decompression and symptom
relief. Aspiration of the tube was unsuccessful and the patient continued to vomit. Imaging to investigate the
acute abdomen demonstrated the nasogastric tube to be correctly sited and within pooled gastric contents.
Gentle initial attempts were made to unblock the NG but to no avail and therefore it was removed. On
inspection it was discovered that the NG tube had no distal perforations to allow drainage, causing failure and
increasing the patient's risk of aspiration. The aim of this report is draw attention to the importance of
scrutinising all medical equipment prior to use to prevent avoidable and potentially serious patient harm.

Link to full-text [NHS OpenAthens account required]