Comparison of fatigue, pain and depression in patients with advanced kidney disease and cancer – symptom burden and clusters

While symptom clusters have been studied in the context of cancer, few data exist in chronic and end stage kidney disease (CKD/ESKD) patients.

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PC-FACS

Rojewska E, Wawrzczak-Bargiela A, Szucs E, et al. Alterations in the activity of spinal and thalamic opioid systems in a mice neuropathic pain model. Neuroscience. 2018;390:293-302.

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Authors’ Response

It is with great enthusiasm that we read the letter written by Nakagawa and Blinderman in response to our study "Pre-Ventricular Assist Device Palliative Care Consultation: A Qualitative Analysis." Our study concluded that one-time palliative care (PC) consultations prior to implantation of destination-therapy ventricular assist device do not lead to completion of preparedness planning or even general palliative care assessment at our institution. We suggested a number of potential explanations for this finding, including the short time between PC consultation and surgery, a lack of consensus among the PC and heart failure teams about the purpose of the PC consult and what preparedness planning should entail, and finally a lack of familiarity with LVAD related complications among members of the PC team.

https://ift.tt/2C7jaOO

Palliative Care Consultation Before Left Ventricular Assist Device Implantation

In a recent article published in the Journal of Pain and Symptom Management, Chuzi et al. 1 report on palliative care (PC) consultations prior to left ventricular assist devices (LVAD) implantation. The authors conclude that a one-time PC consultation immediately preimplantation is insufficient to complete preparedness planning and to delineate patients' preferences and goals. The authors pointed out several reasons for this finding. The first is that PC consultations were offered acutely prior to surgery.

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A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene

Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS), POLR3B‐related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann‐Pick disease type C1 and SYNE1‐related ataxia. Additionally, we found a novel homozygous MTCL1 loss of function variant p.(Lys407fs) in a 23‐year‐old patient with slowly progressive cerebellar ataxia, mild intellectual disability (ID), seizures in childhood and episodic pain in the lower limbs. The identified variant is predicted to truncate the protein after first 444 of 1586 amino acids. MTCL1 encodes a microtubule‐associated protein highly expressed in cerebellar Purkinje cells; its knockout in a mouse model causes ataxia. We propose MTCL1 as a candidate gene for autosomal recessive cerebellar ataxia in humans. Additionally, our study confirms the high diagnostic yield of NGS in early‐onset cerebellar ataxias, with at least 50% detection rate in our ataxia cohort.

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Editors' declarations of interest

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Genetic polymorphism of rs9564966 G > A on 13q22.1 predicts poor survival for Chinese patients with gastric cancer

We investigated the effects of rs9564966 G > A polymorphism on the clinical prognosis of 919 patients with gastric cancer in Chinese population. The results demonstrated that compared with GG genotype, patients with GA + AA genotypes had poorer outcomes, especially in the subgroups of tumor size >5 cm group, tumor site in Noncardia, tumor of intestinal type, T3/ T4 level depth of invasion, N1/N2/N3 level lymph node metastasis, no distant metastasis, III/IV level TNM stages , and no chemotherapy. Our findings suggested that the rs9564966 G > A polymorphism may be a potential biomarker to predict the prognosis of Chinese patients with gastric cancer.

Abstract

Two genomewide association studies on pancreatic cancer have identified a novel single‐nucleotide polymorphism of rs9564966 G > A on 13q22.1 region. However, the associations between the rs9564966 G > A polymorphism and the survival of Chinese patients with gastric cancer (GC) were unknown. In our present investigation, we adopted the Kaplan‐Meier plots, Cox regression analyses, and the log‐rank tests to explore the associations between rs9564966 G > A polymorphism and the prognosis of 911 Chinese patients with GC. Our results revealed that, compared with GG genotype, patients with GA + AA genotypes had poorer outcomes (HR = 1.348, 95% CI = 1.084‐1.675, P = 0.007), especially in the subgroups of age ≤60 years, male, nondrinker, tumor size >5 cm, tumor site in Noncardia, intestinal‐type tumor, T3/T4 level depth of invasion, N1/N2/N3 level lymph node metastasis, no distant metastasis, III/IV level TNM stages, and no chemotherapy. Our findings suggested that the rs9564966 G > A polymorphism may be a potential biomarker to predict the survival of Chinese patients with GC.

https://ift.tt/2Et2gMX