MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

Inherited thrombocytopenias: an updated guide for clinicians.

Purpose - Malnutrition is a very common problem in oncology patients and is associated with many negative consequences including poorer prognosis, quality of life and survival. However, malnutrition in oncology patients is often overlooked although there is growing evidence showing that it can be prevented or reduced through nutrition intervention. This paper aims to provide an updated review on the effectiveness of different nutrition intervention approaches on nutrition status outcomes in oncology patients.

Methods

 - Randomised controlled trials (RCTs) published between 1994 and 2014 which examined the effects of nutrition intervention approaches—in particular, nutrition counselling (NC), oral nutrition supplements (ONS) and tube feeding (TF)—on nutrition status outcomes of oncology patients were identified and reviewed.

Results

 - Thirteen papers from 11 RCTs with a total of 1077 participants were included. The intervention approaches included NC (four studies), NC + ONS (five studies), ONS (three studies) and TF (three studies). The various results suggest that NC with or without ONS was associated with consistent improvements in several nutrition status outcomes. On the other hand, ONS and TF were associated with inconsistent improvements in few aspects of nutrition status outcomes.

Conclusions

 - The referral of oncology patients for NC is recommended given the strong evidence of its beneficial effects on the prevention and reduction of malnutrition. Other forms of nutrition support including ONS and TF may then be included if deemed suitable and necessary for the individual.

Nutrition intervention approaches to reduce malnutrition in oncology patients: A systematic review

Congenital radioulnar synostosis (RUS) is a rare developmental abnormality involving fusion of the bones of the forearms (radius and ulna) preventing normal supination of the affected forearm and has been recognized in orthopaedic literature since the mid-1800s. It is apparent that there is a

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Objective:This article reports on the development, implementation, and evaluation of an integrative clinical oncology massage program for patients undergoing chemotherapy for breast cancer in a large academic medical center.Materials and Methods:We describe the development and implementation of an oncology massage program embedded into chemoinfusion suites. We used deidentified program evaluation data to identify specific reasons individuals refuse massage and to evaluate the immediate impact of massage treatments on patient-reported outcomes using a modified version of the Distress Thermometer delivered via iPad. We analyzed premassage and postmassage data from the Distress Thermometer using paired t test and derived qualitative data from participants who provided written feedback on their massage experiences.Results:Of the 1,090 massages offered, 692 (63%) were accepted. We observed a significant decrease in self-reported anxiety (from 3.9 to 1.7), nausea (from 2.5 to 1.2), pain (from 3.3 to 1.9), and f...

https://ascopubs.org/doi/pdf/10.1200/JOP.2016.015081

Integrating Oncology Massage Into Chemoinfusion Suites: A Program Evaluation.

Evidence regarding opinions on integrative modalities by patients and physicians is lacking. Methods. A survey study was conducted assessing how integrative modalities were valued among hematology/oncology patients and hematologists and oncologists at a major tertiary medical center. Results. 1008 patients and 55 physicians were surveyed. With the exception of support groups, patients valued nutrition services, exercise therapy, spiritual/religious counseling, supplement/herbal advice, support groups, music therapy, and other complimentary medicine services significantly more than physicians (P ≤ 0.05). Conclusion. With the exception of support groups, patients value integrative modalities more than physicians. Perhaps with increasing education, awareness, and acceptance by providers and traditional institutions, integrative modalities could be equally valued between patients and providers. It is possible that increased availability and utilization of integrative oncology modalities at tertiary hospital sites could improve patient satisfaction, quality of life, and other clinical endpoints.

/pdf/evaluation-of-how-integrative-oncology-services-are-valued-2y9li44j9d.pdf

Evaluation of How Integrative Oncology Services Are Valued between Hematology/Oncology Patients and Hematologists/Oncologists at a Tertiary Care Center.

Rare Case of Adult Onset DOCK8 Mutated Hyper Ige Syndrome

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder with variable
expressivity. We present a 62-year-old patient with a rare, late-onset disease course featuring a
novel mutation in ACVRL1, a signal transducer in the TGFβ/BMP pathway.

/pdf/novel-aclv1-mutation-identified-in-late-onset-hereditary-254tuzvtor.pdf

Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia

Genomic Medicine Program, Dr John T. Macdonald Foundation Department of Human Genetics, Division of Pediatric Hematology and Oncology, Department of Pediatrics, John P. Hussman Institute for Human Genomics and Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida, USA Correspondence to Mustafa Tekin, MD, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL 33136, USA Tel: + 1 305 243 2381; fax: + 1 305 243 2704; e-mail: mtekin@med.miami.edu

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.

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Evaluation of How Integrative Oncology Services Are Valued between Hematology/Oncology Patients and Hematologists/Oncologists at a Tertiary Care Center.

Rare Case of Adult Onset DOCK8 Mutated Hyper Ige Syndrome

Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.