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Journal of Clinical Neuromuscular... Dec 2019Whether asymptomatic hyper-CKemia (AHCE) should prompt a thorough work-up for muscle disease or not is controversially discussed. This review aims at summarizing and...
OBJECTIVES
Whether asymptomatic hyper-CKemia (AHCE) should prompt a thorough work-up for muscle disease or not is controversially discussed. This review aims at summarizing and discussing recent findings concerning the cause, frequency, evolution, and work-up of conditions manifesting as AHCE and normal or abnormal electromyography (EMG) respectively muscle biopsy.
METHODS
Systematic PubMed search.
RESULTS
There are numerous primary (hereditary) and acquired myopathies that manifest with permanent, recurrent, or temporary AHCE with/without myopathic EMG or muscle biopsy. AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, malignant hyperthermia susceptibility, Pompe disease, McArdle disease, myoadenylate deaminase-deficiency, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates. Most likely, other primary myopathies manifest with AHCE as well, without having been reported. Patients with AHCE should be taken seriously and repeated CK determination must be conducted. If hyper-CKemia is persisting or recurrent, these patients should undergo an EMG and eventually muscle biopsy. If noninformative, genetic work-up by a panel or whole exome sequencing should be initiated, irrespective of the family history. Patients with AHCE should avoid excessive exercise, require sufficient hydration, require counseling with regard to the risk of malignant hyperthermia, and should inform anesthesiologists and surgeons about their condition before elective surgery.
CONCLUSIONS
Recurrent AHCE should be taken seriously and managed with conventional work-up. If noninformative, genetic work-up should follow irrespective of the family history.
Topics: Creatine Kinase; Humans; Mass Screening; Mitochondrial Diseases; Muscular Diseases
PubMed: 31743252
DOI: 10.1097/CND.0000000000000269 -
European Respiratory Review : An... Sep 2019Debulking surgery and hyperthermic intrathoracic chemotherapy (HITHOC) has been successfully used in the treatment of thoracic tumours. Few authors report on the...
INTRODUCTION
Debulking surgery and hyperthermic intrathoracic chemotherapy (HITHOC) has been successfully used in the treatment of thoracic tumours. Few authors report on the feasibility of its use in patients with lung cancer and malignant pleural effusion. The aim of this study was to evaluate the efficacy and results of debulking surgery and HITHOC in the treatment of selected patients with nonsmall cell lung cancer (NSCLC) and malignant pleural effusion.
METHODS
A systematic review was conducted in MEDLINE in accordance with PRISMA guidelines. The word search included: "hyperthermic intrathoracic chemotherapy and/or HITHOC or hyperthermic intrapleural". Inclusion criteria were only those studies reporting a sufficient amount of data on HITHOC and surgery for lung cancer. Single case reports and review articles were excluded.
RESULTS
20 articles were selected as they related to the topic of HITHOC and lung cancer. Most were from China (n=8) and Japan (n=6). Only four out of the 20 articles had sufficient data for this review. In total, data for 21 patients were collected. Debulking surgery ranged from wedge resection to pneumonectomy and pleurectomy. Mean survival was 27 months and median survival was 18 months (range 1-74 months). 13 patients out of 21 (62%) were alive at 1 year and six (28.5%) were alive at 2 years. 10 patients were still alive at the time of the respective publication in the 21 patients included. Systemic toxicity and treatment-related mortality were nil. There were insufficient data to perform a meta-analysis.
CONCLUSION
Although reported survival in this systematic review is encouraging, available evidence concerning debulking surgery and HITHOC in N0-N1 NSCLC with malignant pleural effusion is weak. Better evidence in the form of a randomised controlled trial is mandatory.
Topics: Adult; Aged; Antineoplastic Agents; Carcinoma, Non-Small-Cell Lung; Cytoreduction Surgical Procedures; Female; Humans; Hyperthermia, Induced; Lung Neoplasms; Male; Middle Aged; Neoplasm Staging; Pleural Effusion, Malignant; Pneumonectomy; Risk Factors; Time Factors; Treatment Outcome
PubMed: 31366459
DOI: 10.1183/16000617.0018-2019