General Treatment Strategies Research Articles

Understanding the Initial Requirements Definition in Early Design Phases

AbstractThe definition of initial requirements in the early phase of product development is characterised as a decision process under highest uncertainties. Studies show that projects often deviate from their planned goals or even fail due to ill-defined requirements. Despite the importance and criticality of this task, a detailed description and risk-oriented explanation is missing in the product development literature. The goal of this paper is to develop an explanation model/frame which establishes a link between the development context and an appropriate procedure for the initial requirements definition based on general risk treatment strategies. In a first step, risk-driving context factors with high influence on this task are identified. Then two case studies are compared to analyse the interrelations between their context factors and the applied risk treatment strategies that are implemented in their procedures for defining initial requirements.

Surgical management and outcome of synovial sarcoma in the spine

BackgroundSynovial sarcoma (SS) is a soft tissue sarcoma that rarely occurs in the spine, and a minimal number of cases have been reported in the literature. Spinal SS is challenging in diagnosis and treatment and has a poor prognosis. The aim of this study was to summarize and analyse the clinical features and outcomes of patients with spinal SS.MethodsA total of 16 cases of patients with spinal SS admitted to our institution were reviewed retrospectively. General information, radiological findings and treatment strategies were collected. These patients were followed up regarding their continuing treatment, local or distant recurrence and survival.ResultsSpinal SS patients in this series ranged in age from 12 to 68 years (median, 33). Four en bloc resections and 12 piecemeal resections were performed. Improved Frankel (P = 0.002), visual analogue scale (P = 0.002) and Karnofsky Performance Status (P = 0.002) scores were seen postoperatively. The mean follow-up period was 35.9 ± 23.5 (median 31.5, range 4–87) months, with four local recurrences and three distant metastases detected. Eight patients (50.0%) died of disease by the last follow-up. The 1-, 3- and 5-year overall survival rates were 87.5%, 61.4% and 40.9%, respectively. Preoperative chemotherapy was used in three patients to facilitate surgical resection, and adjuvant chemotherapy and radiotherapy were used in six patients.ConclusionsSpinal SS has a relatively high risk of local recurrence and distant metastasis. Surgical intervention can improve the neurological function and relieve pain in these patients. En bloc excision is an effective treatment strategy to improve survival and prevent local recurrence. Management of spinal SS should be under the instruction of a multidisciplinary team.

Influence of the neural microenvironment on prostate cancer.

BackgroundNerves are key factors in prostate cancer (PCa), but the functional role of innervation in prostate cancer is poorly understood. PCa induced neurogenesis and perineural invasion (PNI), are associated with aggressive disease.MethodWe denervated rodent prostates chemically and physically, before orthotopically implanting cancer cells. We also performed a human neoadjuvant clinical trial using botulinum toxin type A (Botox) and saline in the same patient, before prostatectomy.ResultBilateral denervation resulted in reduced tumor incidence and size in mice. Botox treatment in humans resulted in increased apoptosis of cancer cells in the Botox treated side. A similar denervation gene array profile was identified in tumors arising in denervated rodent prostates, in spinal cord injury patients and in the Botox treated side of patients. Denervation induced exhibited a signature gene profile, indicating translation and bioenergetic shutdown. Nerves also regulate basic cellular functions of non‐neoplastic epithelial cells.ConclusionNerves play a role in the homeostasis of normal epithelial tissues and are involved in prostate cancer tumor survival. This study confirms that interactions between human cancer and nerves are essential to disease progression. This work may make a major impact in general cancer treatment strategies, as nerve/cancer interactions are likely important in other cancers as well. Targeting the neural microenvironment may represent a therapeutic approach for the treatment of human prostate cancer.

How to use the new 2017 Japanese guidelines for multiple sclerosis and neuromyelitis optica

AbstractNew guidelines for the management of multiple sclerosis and neuromyelitis optica were published in Japan in 2017 for doctors and nurses, as well as patients and their family members. They consist of three major parts. The first includes a general discussion regarding the diseases, including brief reviews of seven inflammatory demyelinating diseases of the central nervous system, along with recent advances shown in epidemiological and etiological studies of multiple sclerosis and neuromyelitis optica. That is followed by part I of the detailed discussion section, which describes symptoms, measurements of disability, tests for diagnosis, diagnostic criteria, clinical course and prognosis, and information regarding medical economics and social resources. Finally, part II of the detailed discussion focuses on general treatment strategies, acute stage treatment, disease‐modifying therapy and symptomatic treatment for sequelae after relapse. There are 110 clinical questions covered. Physicians and patients are advised to first read chapter 1 in order to understand the current situation regarding related diseases. For treatment of acute stage patients, a common algorithm is proposed. In order to prevent relapse and suppress progression of disability, proper disease‐modifying therapy must be chosen for individual patients. Physicians are advised to not jump to the portion where a specific drug is discussed, but rather should first read chapter 13 for unbiased facts regarding the whole body of evidence for disease‐modifying therapy. In chapter 11, an escalation therapy strategy starting with baseline drugs is proposed, while induction therapy is mentioned as a possibility for patients with highly active disease.

Treatment of retroperitoneal sarcoma in Germany : Results of asurvey of the German Society of General and Visceral Surgery, the German Interdisciplinary Sarcoma Study Group and the advocacy group Das Lebenshaus

Retroperitoneal sarcomas (RPSs) are rare cancers with some variability in clinical and histopathological presentation. In Germany, general treatment strategies of retroperitoneal sarcoma are unknown since centralized registries do not exist. The objective of this survey was to access the medical care of RPS patients in Germany. In cooperation with the German Society of General and Visceral surgery, the German Interdisciplinary Sarcoma Study Group and the patient advocacy group Das Lebenshaus we designed an online survey assessing diagnostic and treatment strategies (e. g. performance of tumor biopsies, administration of multimodal therapies and surgical strategy). All departments for general and visceral surgery in Germany were addressed (n= 976). Responses were received from 191 of 976 departments. Only 11surgical departments treat more than 10RPS patients per year. Amultidisciplinary sarcoma board exists in 19hospitals. Staging is generally performed by cross-sectional imaging. In 54% of the departments pretreatment tumor biopsy is astandard procedure. Surgery is performed as compartment resection in 85% of the departments. Asystematic lymph node dissection is done in 40%. Adjuvant radio- or chemotherapy is performed as astandard treatment in 27% and 22% departments, respectively. The survey demonstrates alarge heterogeneity in RPS diagnostic and treatment strategies. Dedicated education programs and centralized treatment strategies are warranted to improve the standard of care.

Bioconversion of non-steroidal anti-inflammatory drugs diclofenac and naproxen by chloroperoxidase

Non-steroidal anti-inflammatory drugs diclofenac and naproxen are widely used for the treatment of arthritis, ankylosing spondylitis, and acute muscle pain. However, most of them are usually not metabolized and simply pass through human body. These drugs are difficult to be decomposed by general waste treatment strategies and have caused serious environmental concerns. We report a rapid and efficient conversion of diclofenac and naproxen by chloroperoxidase-catalyzed H2O2-oxidation, a heme protein isolated from Caldarimyces fumago. Complete conversion of diclofenac and naproxen was achieved in only 9 and 7min respectively with 0.1mmolL−1H2O2 and nanomolar enzyme concentration at pH 3.0. The converted products were identified by HPLC–MS and NMR, suggesting involvement of multiple steps in CPO catalyzed conversion. Our work demonstrated that CPO treatment (with COD removal of 4.9%, 9.1% for diclofenac and naproxen, respectively) followed by existing bioremediation technologies (activated sludge) greatly improved the decontaminating these two drugs from waste water (COD removal was enhanced to 85% and 86%, respectively). The eco-toxicity evaluation according to the 72-h EC50 value using the green algae Chlorella Pyrenoidos as ecological indicators showed that the converted products of diclofenac and naproxen had lower toxicity than the original drugs.

The feasibility of integrating an evidence-based clinical guideline and the nursing information system for incontinence associated dermatitis patients in ICUs

Background: Incontinence associated dermatitis (IAD) occurs when urine or stool comes into contact with perineal or perigenital skin. IAD is a challenge for ICU nurses. There are several IAD care guidelines in the literature, but still remained in the paper stage. Objective: The aim of this study was to pilot test the feasibility of implementing the IAD clinical guidelines into the nursing information system (NIS) to improve prevention and care of IAD for ICU patients. Methods: A three stage designed research was conducted, in the first stage a systematic review was performed in accordance with the PRISMA and PICO guidelines to develop an evidence-based clinical guideline for IAD patients in ICU. Seven electronic databases were searched for clinical studies and guidelines, and the quality of included study was assessed using the Joanna Briggs Institutes’ appraisal tools. In the second stage, the research and nursing informatics team was formed and a computerized nursing record system was designed to integrate the guideline knowledge and NIS. In the third stage, evaluate the feasibility of the computerized nursing record system using a self-developed questionnaires based on the technology acceptance model for evaluating the nurses’ perception of the system, content validity was examined, and the reliability of the instrument was tested, and patients’ IAD prevalence rates was monitored. The participants in this stage were 4 adult ICU patients and nurses. Results: In stage one, 35 articles were reviewed by two independent reviewers, 12 articles met the inclusion criteria; 2 clinical guidelines, 4 randomized controlled trials, and 6 systematic reviews, data was extracted and synthesized by a research team. Based on the evidence combined with 2 stoma care experts’ opinions the draft recommendations and accompanying guideline was proposed. The draft document was reviewed and confirmed at 3 consensus meetings attended by 21 senior nurses from 4 ICUs. In this guideline included 4 domains that provided information about general information, assessment tools, severity, preventive and treatment strategies for IAD. In stage two, the system requirement analysis and design the IAD care flow based on the 5 steps of nursing process mainly included: (1) Perineal Risk Assessment Tool was used in the assessment stage (2) Incontinence Associated Dermatitis Severity (IADS) was used to analyse the IAD severity. (3) The linkage of severity stage in accordance with nursing care plan. (4) The preventive and treatment interventions in IAD nursing care plan were classified based on severity stages. (5) The outcome was evaluated using IADS. In stage three, after IRB approved, 63 ICU patients were recruited in this study, the prevalence rate was 17.4%. The nurses’ perception of the system was evaluated in 3 directions: (1) 79% nurses’ perceived the system were ease of use. (2) 85% nurses’ perceived the system were useful. (3) 88% nurses’ perceived the system were fit the task. Discussion/Conclusion: According to the results of this study, implementing the IAD clinical guidelines into (NIS) was practical to simplifying clinic working procedure and effective in communicating and documenting IAD nursing care information.

Drug-Induced Dyskinesia, Part 2: Treatment of Tardive Dyskinesia.

Dyskinesias encompass a variety of different hyperkinetic phenomenologies, particularly chorea, dystonia, stereotypies, and akathisia. The main types of drug-induced dyskinesias include levodopa-induced dyskinesia (LID) in patients with Parkinson's disease and tardive syndrome (TS), typically present in patients with psychiatric or gastrointenstinal disorders treated with dopamine receptor blocking drugs, also referred to as neuroleptics. Besides preventive measures (i.e., avoiding the use of the offending drugs), general treatment strategies include slow taper of the offending agent and use of dopamine-depleting agents like tetrabenazine. Botulinum toxin may be helpful for wearing off focal dystonia and some forms of tardive dystonia. Deep brain stimulation is usually reserved for patients with disabling motor fluctuations, LID, and for severe TS that cannot be managed medically.

Biosimilar Drugs and Pharmacovigilance

In the last 25-30 years, biotherapeutics became main part of the modern medicine and their occurrence in general treatment strategies is increasing day by day. Biotherapeutics are briefly defined by World Health Organization (WHO) as “A biological medicinal product with the indication of treating human diseases”. Biotherapeutics are the drugs that are derived from living organisms with complex processes.

Abstract 2377: Low frequency KRAS mutations in colorectal cancer patients and the presence of multiple mutations in oncogenic drivers in non-small cell lung cancer patients

Abstract Intratumor heterogeneity can confound the results of mutation analyses in oncodriver genes using traditional methods thereby challenging the application of targeted cancer therapy strategies for patients. Ultradeep sequencing can detect low frequency and expanded clonal mutations in primary tumors to better inform treatment decisions. KRAS coding exons in 61 treatment-naïve colorectal cancer (CRC) tumors and KRAS, EGFR, ALK, and MET in lung tumors from three Chinese non-small cell lung cancer (NSCLC) patients were sequenced using ultradeep sequencing methods. Forty-one percent of CRC patients (25/61) harbored mutations in the KRAS active domain, eight of which (13%) were not detected by Sanger sequencing. Three (of eight) had frequencies less than 10% and one patient harbored more than one mutation. Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were identified in one NSCLC patient. A second NSCLC patient showed an EML4-ALK fusion with ALK, EGFR, and MET mutations. A third NSCLC patient harbored multiple low frequency mutations in KRAS, EGFR, and MET as well as ALK gene copy number increases. Within the same patient, multiple low frequency mutations occurred within a gene. A complex pattern of intrinsic low frequency driver mutations in well-known tumor oncogenes may exist prior to treatment, resulting in resistance to targeted therapies. Current targeted cancer therapies usually lack durability and demonstrate limited overall efficacy in patients. The types of low frequency concurrent mutations in candidate oncogenes presented here suggest necessary modifications both to methods for detection of these variants and to general treatment strategies. To date, Sanger sequencing has been effectively used for detection of treatment-relevant somatic mutations. However, in a heterogeneous mixture of cancerous and normal tissue, Sanger sequencing will likely fail to detect low frequency mutations. More sensitive and cost-effective sequencing methods are required to systematically assess the mutation status within cancer pathway genes or at the whole genome level. Furthermore, because patients often develop resistance to targeted therapy over time that is due to the preexistence of low frequency mutations in oncogenes, treatment strategies based on combination therapy might prove to be the most optimal treatment approach for cancer patients. Ultradeep sequencing can characterize intratumor heterogeneity and identify such mutations to ultimately affect treatment decisions. Citation Format: Christopher Morehouse, Liyan Jiang, Jiagi Huang, Wei Zhu, Susana Korolevich, Xiaoxiao Ge, Kim Lehmann, Zheng Lui, Christine Kiefer, Meggan Czapiga, Xinying Su, Philip Brohawn, Yi Gu, Brandon Higgs, Yihong Yao. Low frequency KRAS mutations in colorectal cancer patients and the presence of multiple mutations in oncogenic drivers in non-small cell lung cancer patients. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 2377. doi:10.1158/1538-7445.AM2014-2377

Pharmacological Acute Migraine Treatment Strategies: Choosing the Right Drug for a Specific Patient

Background:In our targeted review (Section 2), 12 acute medications received a strong recommendation for use in acute migraine therapy while four received a weak recommendation for use. Strong recommendations were made to avoid use of two other medications, except for exceptional circumstances. Two anti-emetics received strong recommendations for use as needed.Objective:To organize the available acute migraine medications into acute migraine treatment strategies in order to assist the practitioner in choosing a specific medication(s) for an individual patient.Methods:Acute migraine treatment strategies were developed based on the targeted literature review used for the development of this guideline (Section 2), and a general literature review. Expert consensus groups were used to refine and validate these strategies.Results:Based on evidence for drug efficacy, drug side effects, migraine severity, and coexistent medical disorders, our analysis resulted in the formulation of eight general acute migraine treatment strategies. These could be grouped into four categories: 1) two mild-moderate attack strategies, 2) two moderate-severe attack or NSAID failure strategies, 3) three refractory migraine strategies, and 4) a vasoconstrictor unresponsive-contraindicated strategy. In addition, strategies were developed for menstrual migraine, migraine during pregnancy, and migraine during lactation. The eight general treatment strategies were coordinated with a “combined acute medication approach” to therapy which used features of both the “stratified” and the “step care across attacks” approaches to acute migraine management.Conclusions:The available medications for acute migraine treatment can be organized into a series of strategies based on patient clinical features. These strategies may help practitioners make appropriate acute medication choices for patients with migraine.

Pharmacological Acute Migraine Treatment Strategies: Choosing the Right Drug for a Specific Patient

ABSTRACT:Background:In our targeted review (Section 2), 12 acute medications received a strong recommendation for use in acute migraine therapy while four received a weak recommendation for use. Strong recommendations were made to avoid use of two other medications, except for exceptional circumstances. Two anti-emetics received strong recommendations for use as needed.Objective:To organize the available acute migraine medications into acute migraine treatment strategies in order to assist the practitioner in choosing a specific medication(s) for an individual patient.Methods:Acute migraine treatment strategies were developed based on the targeted literature review used for the development of this guideline (Section 2), and a general literature review. Expert consensus groups were used to refine and validate these strategies.Results:Based on evidence for drug efficacy, drug side effects, migraine severity, and coexistent medical disorders, our analysis resulted in the formulation of eight general acute migraine treatment strategies. These could be grouped into four categories: 1) two mild-moderate attack strategies, 2) two moderate-severe attack or NSAID failure strategies, 3) three refractory migraine strategies, and 4) a vasoconstrictor unresponsive-contraindicated strategy. In addition, strategies were developed for menstrual migraine, migraine during pregnancy, and migraine during lactation. The eight general treatment strategies were coordinated with a “combined acute medication approach” to therapy which used features of both the “stratified” and the “step care across attacks” approaches to acute migraine management.Conclusions:The available medications for acute migraine treatment can be organized into a series of strategies based on patient clinical features. These strategies may help practitioners make appropriate acute medication choices for patients with migraine.

Canadian Headache Society Guideline: Acute Drug Therapy for Migraine Headache

The primary objective of this guideline is to assist the practitioner in choosing an appropriate acute medication for an individual with migraine, based on current evidence in the medical literature and expert consensus. It is focused on patients with episodic migraine ( headache on ≤ 14 days a month). A detailed search strategy was used to find a relevant meta-analyses, systematic reviews and randomized double-blind controlled trials. Recommendations were graded with the Grading of Recommendations Assessment, Development and Evaluation (GRADE) Working Group, using a consensus group. In addition, a general literature review and expert consensus were used for aspects of acute therapy for which randomized controlled trials were not available. Twelve acute medications received a strong recommendation for use in acute migraine therapy (almotriptan, eletriptan, frovatriptan, naratriptan, rizatriptan, sumatriptan, zomitriptan, ASA, ibuprofen, naproxen sodium, diclofenac potassium, and acetaminophen). Four received a weak recommendation for use (dihydroergotamine, ergotamine, codeine-containing combination analgesics, and tramadol- containing medications). Three of these were NOT recommended for routine use (ergotamine and codeine- and tramadol- containing medications). Strong recommendations were made to avoid use of butorphanol and butalbital- containing medications. Metoclopramide and domperidone were strongly recommended for use when necessary. Our analysis also resulted in the formulation of eight general acute migraine management strategies. These were grouped into: 1) two mild-moderate attack strategies, 2) two moderate-severe attack or NSAID failure strategies, 3) three refractory migraine strategies, and 4) a vasoconstrictor unresponsive-contraindicated strategy. Additional were developed for menstrual migraine during pregnancy, and migraine during lactation. This guideline provides evidence-based advice on acute pharmacological migraine therapy, and should be helpful to both health professionals and patients, The available medications have been organized into a series of strategies based on patient clinical features. These strategies may help practitioners make appropriate acute medication choices for patients with migraine.

1421 – Outpatient depression treatment - comparative analysis of general practitioner's, psychiatrist's and psychotherapist's treatment strategies

Objective To analyze the status quo of outpatient treatment of depression from general practitioner's, psychiatrist's and psychotherapist's point of view. Method Pooled analysis of the outpatient treatment of depression of general practitioners (n = 180), psychiatrists (n = 71), and psychotherapists (n = 160). Survey performed to uncover the clinical process the clinical process, the perceived obstacles, and subjective responsibilities. Results The diagnosis of all three groups was based primarily on their clinical impression, rather than on formal diagnosis criteria. The cooperation with the medical-psychotherapeutic sector was assessed more favorably than cooperation with the psycho-social sector. Conclusions Needs for improvements particularly regarding diagnoses and an interdisciplinary cooperation.

Pathophysiology of Myocardial Ischemia Reperfusion Injury: A Review

Cardiovascular events are one of the leading causes of death in the world. Thrombolysis, percutaneous transluminal coronary angioplasty, and coronary bypass surgery are the general treatment strategies of cardiovascular events. All of these treatment strategies can cause a myocardial ischemia reperfusion (MI/R) injury, which is known to occur on the restoration of coronary blood flow after a period of myocardial infarction (MI). Although there is an only way to save the myocardium from necrotic and apoptotic damages, reperfusion achieved by the restoration of blood flow often aggravates cardiac dysfunction. It is believed that MI/R injury is related to the increased reactive oxygen species (ROS), calcium overloading, and the loss of membrane phospholipids especially during the reperfusion. The harmful effects of ROS on cardiac tissue during the MI/R can be prevented by endogenous antioxidant systems. Also, the complement system plays a crucial role in the inflammatory events of ischemic injury; thereupon it is important in the pathogenesis of the MI/R injury. Polymorphonuclear leukocytes in the reperfusion period are also associated with MI/R injury. Therefore these circumstances can increase the irreversible tissue damage. Although sometimes the reperfusion is provided, blood flow cannot be supplied to the myocardial tissue. This is called a no-reflow phenomenon. A lot of exogenous antioxidant agents can be used to prevent this process of injury. Due to these properties of antioxidants, a number of studies have been carried out and have been reported anywhere in the world. These studies demonstrated that these agents can be used in the MI/R-induced tissue damage and protect the heart against ROS-related myocardial injury.

Time-related effects of general functional training in spinal cord-injured rats

OBJECTIVES:This prospective, randomized, experimental study with rats aimed to investigate the influence of general treatment strategies on the motor recovery of Wistar rats with moderate contusive spinal cord injury.METHODS:A total of 51 Wistar rats were randomized into five groups: control, maze, ramp, runway, and sham (laminectomy only). The rats underwent spinal cord injury at the T9-T10 levels using the NYU-Impactor. Each group was trained for 12 minutes twice a week for two weeks before and five weeks after the spinal cord injury, except for the control group. Functional motor recovery was assessed with the Basso, Beattie, and Bresnahan Scale on the first postoperative day and then once a week for five weeks. The animals were euthanized, and the spinal cords were collected for histological analysis.RESULTS:Ramp and maze groups showed an earlier and greater functional improvement effect than the control and runway groups. However, over time, unexpectedly, all of the groups showed similar effects as the control group, with spontaneous recovery. There were no histological differences in the injured area between the trained and control groups.CONCLUSION:Short-term benefits can be associated with a specific training regime; however, the same training was ineffective at maintaining superior long-term recovery. These results might support new considerations before hospital discharge of patients with spinal cord injuries.

An Integrated Approach to Psychotherapy Techniques for Patients with Personality Disorder

Personality disordered patients present with multiple problem areas and potential targets of change. This complex clinical situation can be addressed by an integrated approach to the treatment by using treatment strategies and techniques from the various schools of therapy, sequenced and adapted to the individual patient. An optimal choice and sequencing of treatment techniques is organized around general treatment strategies (assessment and case formulation, treatment structuring, observing the therapeutic relationship, addressing problematic personality organization, and addressing sequential goals) with the severity of the personality disturbance in mind. The biggest threat to successful integration of the treatment is the reaction of severe personality disordered patients who lack an integrated sense of self and suffer from intense, fluctuating emotions that challenge an inexperienced, reactive therapist.

Hepatoblastoma: recent developments in research and treatment

Hepatoblastoma is the most common liver tumor of early childhood. According to recent studies its incidence seems to be increasing in North America and Europe. Since new histological variants have been described recently the formerly clear-cut distinction of hepatoblastoma and hepatocellular carcinoma may not be valid anymore and a new histological classification will be inaugurated by an international working group. Recent research identified prognostically relevant gene signatures as well as potential molecular targets for therapy of hepatoblastoma. The multicentric study groups in the USA, Europe and Japan recommend cisplatin based chemotherapy for neoadjuvant and adjuvant treatment. However, their risk stratification systems and general treatment strategies differ substantially. Therefore the four groups agreed to pool their patients' data for an analysis of prognostic criteria which can be used for defining common risk groups. While 90% of standard risk and 65% of high risk hepatoblastomas can be cured, the still dismal outcome of multifocal disseminated and metastasising tumors warrants the investigation of new cytotoxic drugs and substances against specific molecular targets.

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup

The Region 4 Genetics Collaborative has brought together metabolic clinicians and follow-up specialists from state departments of health in the region (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, and Wisconsin) in a workgroup to create a dynamic registry, the Inborn Errors of Metabolism Information System, to facilitate gathering information about long-term follow-up for individuals identified by newborn blood spot screening. With the concept that by developing a core series of agreed-on data elements and general treatment strategies, differences in treatment plans could yield evidence about optimal treatment choices, data elements for initial intake, and interval follow-up were selected based on a paradigm condition, medium-chain acyl-CoA dehydrogenase deficiency. Demographic elements that will be used as a common data set for all conditions were identified along with condition-specific elements and general information to be obtained at intervals. Subjects were enrolled after obtaining prospective informed consent; data entry began in January 2007. Additional conditions have had data sets defined and data entry initiated; 21 disorders as of July 2009. Web-based data entry has been employed using DocSite® as the platform for data entry. With continued collaboration among members of the workgroup, we hope to extend the intellectual questions that can be explored using this data, expand the spectrum of the registry and number of patients engaged, and integrate the registry into additional domains.

Isolated uvular angioedema: Quincke’s disease

A 39-year-old male patient was admitted to the emergency department with the complaints of difficulty swallowing, a sensation of something “stuck” in his throat and a swollen uvula that he had seen in the mirror while brushing his teeth. His complaints had started 1 day before with sore throat as well as difficulty and pain when eating and drinking. He denied any fever, cough or breathing difficulties. His vital signs were stabile with blood pressure 120/70 mmHg, heart rate 86/min, respiration rate 12/min and body temperature 36.6°C. On physical examination, his lung sounds were normal. No lymphadenopathy was noted, but his uvula was erythematous and edematous (Fig. 1). No tonsillar hypertrophy was seen. His laboratory tests showed no significant results; there was no leukocytosis or any alterations in the neutrophil, basophil or eosinophil counts. The postero-anterior chest x-ray was normal. A bedside nasopharyngeal scope revealed a normal epiglottis and vocal cords, with significant uvular edema. He had no medical history of trauma, known food or drug allergy, asthma or frequently repeating infections. The only remarkable point in his medical history was that 1 week before he had been prescribed oral pinaverium bromide 50 mg (Dicetel®) for irritable bowel syndrome. He was treated with intravenous pheniramine hydrogen maleate (Avil®) and dexamethasone (Dekort®) in the emergency department and prescribed oral antihistaminic tablets for the next 48 h. Fig. 1 Oropharyngeal examination of a 39-year-old patient: isolated uvular angioedema (the patient's consent was obtained for the photograph) Isolated uvular angioedema was first defined by Quincke in 1882 [1]. Isolated uvular angioedema, or Quincke's disease, is a relatively rare presentation of angioedema of the upper airway [2]. Several causes of uvular edema have been described, including hereditary angioedema, trauma, inhalation exposure, medication reactions and infectious causes [3, 4]. Isolated uvular angioedema is usually caused by a type I hypersensitivity reaction [2, 3]. This should be differentiated from uvulitis, which is infectious and frequently has concomitant epiglottitis. Direct visualization or a lateral neck plain radiograph should be considered to help rule out epiglottitis [3, 5]. In this situation, the primary strategy should invovle maintaining the airway. In spite of being a rare condition, uvular edema may cause obstructive respiratory distress and require immediate airway care. The general treatment strategies in the emergency department consist of intravenous H1 and H2 histamine blockers, corticosteroids and infrequently epinephrine [2]. Dexamethasone has been considered the medication of choice considering its potent anti-inflammatory properties and long half-life.