Presentation of Modern Genetic Diagnostics at the Interface between Neuro/Social Pediatrics and Human Genetics Based on Clinical Case Examples

2021 ◽  
Author(s):  
H. M. Büttel ◽  
B. Zirn
Keyword(s):  
Clinical Case ◽  
Human Genetics ◽  
Genetic Diagnostics ◽  
Case Examples ◽  
Social Pediatrics

Sleep across childhood during the COVID-19 pandemic: a narrative review of the literature and clinical case examples

2021 ◽  
pp. 1-23
Author(s):  
Melanie A. Stearns ◽  
Carolyn E. Ievers-Landis ◽  
Christina S. McCrae ◽  
Stacey L. Simon
Keyword(s):  
Clinical Case ◽  
Narrative Review ◽  
Review Of The Literature ◽  
Case Examples

Practical implementation of the German Genetic Diagnostics Act (GenDG) in Laboratory Medicine, the Human Genetics Laboratory and Genetic Counselling1)

2012 ◽  
Vol 35 (5) ◽  
pp. ---
Author(s):  
Matthias Orth ◽  
Imma Rost ◽  
Georg F. Hoffmann ◽  
Hanns-Georg Klein
Keyword(s):  
Human Genetics ◽  
State Of The Art ◽  
Personalised Medicine ◽  
Direct Analysis ◽  
Genetic Diagnostics ◽  
Practical Implementation ◽  
Gene Products ◽  
In Vitro Diagnostics ◽  
Current Version

Abstract The German Genetic Diagnostics Act (GenDG) in its current version, effective since February 2010, has far-reaching consequences for all physicians and also for many patients. After more than 1 year of experience working with the GenDG, much of the previous criticism has proved to be inadequate. From the beginning, experts complained that besides the direct analysis of germline DNA, gene products should not be included in the scope of the act – potentially having a very broad impact on the entire in vitro diagnostics field. Problems with applying the act range from the impossibility of distinguishing between genetic and non-genetic examinations to enormous bureaucratic hurdles, which in some areas interfere with an efficient, state-of-the-art patient care (i.e., newborn screening, treatment with blood products). The rapid progress in technology, which is currently revolutionizing genetic diagnostics worldwide, has been set with narrow boundaries by the German GenDG, while at the same time “personalised medicine”, applying exactly the same technologies, is being funded by government research grants. From the viewpoints of the concerned physicians and patients, there is an urgent need to amend the act itself, and efficient action should be taken by the committee on genetic diagnostics (GEKO), which was appointed to define guidelines for the practical use of the GenDG.

Clinical Case Examples

2018 ◽  
pp. 45-49
Author(s):  
Nicole A. Sciarrino ◽  
Tyler Elizabeth Hernandez ◽  
Jennifer Davidtz
Keyword(s):  
Clinical Case ◽  
Case Examples

The Unified Protocol for Eating Disorders

2017 ◽  
pp. 150-163
Author(s):  
Christina L. Boisseau ◽  
James F. Boswell
Keyword(s):  
Eating Disorders ◽  
Anorexia Nervosa ◽  
Eating Disorder ◽  
Bulimia Nervosa ◽  
Emotional Disorders ◽  
Clinical Case ◽  
Case Examples ◽  
Transdiagnostic Treatment ◽  
Unified Protocol ◽  
Outpatient Settings

This chapter describes the application of the Unified Protocol for Transdiagnostic Treatment of Emotional Disorders (UP) to eating disorders, including anorexia nervosa (AN), bulimia nervosa (BN), binge eating disorder, and other specified feeding or eating disorders. We focus on the five core treatment modules, highlighting aspects of each one that are particularly relevant to eating disorders and discuss the evidence supporting their use. Next, using clinical case examples from both residential and outpatient settings, we illustrate how each of these core modules can be applied to the treatment of eating disorders. Finally, we provide recommendations for future applications of the UP in this population.

Laser

2010 ◽  
pp. 568-585
Author(s):  
Peter O’Kane ◽  
Simon Redwood
Keyword(s):  
Balloon Angioplasty ◽  
Clinical Case ◽  
Laser Energy ◽  
Medical Application ◽  
Laser Angioplasty ◽  
Case Examples ◽  
Tissue Interactions ◽  
Percutaneous Coronary ◽  
Catheter Technology ◽  
Carbon Dioxide Co2

The first medical application of laser was reported by Dr Leon Goldman who, in 1962, reported the use of ruby and carbon dioxide (CO2) lasers in dermatology. In cardiovascular disease, early laser use was confined to cadaver vessels, animal models, and arteries located in freshly amputated limbs, until eventually work progressed to the use of laser energy to salvage an ischaemic limb in 1984. The concept of using laser to remove atherosclerotic material in coronary arteries developed as an alternative strategy to simply modifying the shape of an obstructed lumen as occurs with simple balloon angioplasty. Expectations grew that this new biomedical technology may overcome the low success rate and high complication rate of lesions considered non-ideal for balloon angioplasty. However, initial successful reports could not be replicated. Furthermore, underdeveloped catheter technology and limited appreciation of laser/tissue interactions meant that a cure for restenosis was not in fact discovered and laser coronary angioplasty became isolated to only a few centres in the world. However, more recently with advancement in both catheter technology and technique, excimer coronary laser angioplasty (ELCA) has been rediscovered for use in specific subsets of percutaneous coronary interventions (PCIs). This chapter outlines the basic principles of ELCA and important practical aspects for using the device in contemporary PCI. A discussion of the current indications for clinical use follows and these are highlighted by clinical case examples.

Consultation-Liaison Psychiatry

2018 ◽  
Author(s):  
Marta Herschkopf ◽  
John R. Peteet
Keyword(s):  
Medical Care ◽  
Clinical Case ◽  
Family Values ◽  
Clinical Team ◽  
Liaison Psychiatry ◽  
Medical Specialties ◽  
Case Examples ◽  
Ethical Conflicts ◽  
Consultation Liaison Psychiatry ◽  
Medical Care Team

Consultation-liaison psychiatrists, working at the interface between psychiatry and other medical specialties, frequently receive consultation requests reflecting tensions among the values of the clinical team, the patient, and the patient’s family. Yet little attention has been devoted to the religious and spiritual dimensions of these challenges. This chapter, using brief clinical case examples, reviews the relevance of religion/spirituality for ethical conflicts in several domains of consultation-liaison psychiatry. These areas of conflict include (1) the appropriate scope of the consulting psychiatrist’s role in diagnosis and treatment, (2) religious/spiritual aspects of capacity and candidacy evaluations, (3) patient and family values that conflict with those of the medical care team, and (4) a psychiatrist’s own values that conflict with the patient’s or society’s values. The chapter concludes by discussing in more depth a case involving several of these themes, analyzing it according to the Jonsen Four Quadrants Model.

scholarly journals Morphometric Comparison of the Pterional Trans-sylvian and the Pretemporal Transclinoidal Approaches to Posterior Communicating Artery Aneurysms: Anatomical Study

Neurosurgery ◽  
2019 ◽  
Vol 66 (Supplement_1) ◽  
Author(s):  
Jaafar Basma ◽  
Kenneth Moore ◽  
Tarek Abuelem ◽  
Khaled Krisht ◽  
L Madison Michael ◽  
...  
Keyword(s):  
Clinical Case ◽  
Internal Carotid ◽  
Focal Point ◽  
Anatomical Study ◽  
Pterional Approach ◽  
Case Examples ◽  
Pterional Craniotomy ◽  
Working Space ◽  
Area 5 ◽  
Ischemic Complications

Abstract INTRODUCTION Due to the advent of endovascular techniques, modern series of surgically treated posterior communicating (Pcom) aneurysms have shown a tendency towards higher complexity and more technical difficulties. The pretemporal approach was described as a valuable extension to the pterional approach in treating basilar apex aneurysms. Its use for clipping of ruptured Pcom aneurysms was associated with decreased ischemic complications. However, its anatomical advantages for Pcom aneurysm surgery have not been previously analyzed. METHODS Six cadaveric heads (12 sides) underwent a sequential dissection, starting with a pterional craniotomy, and then extended to a pretemporal transclinoidal approach. In each step, the following variables were measured, taking the origin of Pcom as a focal point: (1) exposed length of the internal carotid artery (ICA) proximal to the Pcom artery, (2) exposed angular circumference of ICA at the origin of Pcom, (3) deep working area between the optic nerve and tentorium/oculomotor nerve, (4) superficial working area, (5) depth of the exposure and the (6) fronto-temporal (superior posterolateral), and (7) orbito-sphenoidal (inferior anterolateral) angles of exposure. Clinical case examples are used to illustrate the advantages of the pretemporal approach. RESULTS Compared to the pterional craniotomy, the pretemporal transclinoidal approach increased the exposed length of the proximal ICA from 3.3 to 11.7 mm (P = .0001), and its circumference from 5.1 to 7.8 mm (P = .0003), allowing a 210-degree view of the ICA (vs 137.9). The deep and superficial working areas also significantly widened from 53.7 to 92.4 mm2 (P = .0048) and 252.8 to 418.2 mm2 (P = .0001), respectively; while the depth of the exposure was equivalent. The frontotemporal and the sphenosylvian angles increased on average by 17 (P = .0006) and 10 (P = .0037) degrees, respectively. The clinical case examples demonstrate the visual, technical and strategic advantages of the pretemporal approach as a consequence of its anatomical exposure. CONCLUSION The pretemporal approach can be useful for complex Pcom aneurysms by providing easier proximal control, wider working space, aneurysm visualization, and more versatile clipping angles. The enhanced exposure potentially results in a higher rate of complete aneurysm obliteration and complication avoidance.

Competence and consent to treatment in children and adolescents

2001 ◽  
Vol 7 (2) ◽  
pp. 150-159 ◽  
Author(s):  
Mike Shaw
Keyword(s):  
Children And Adolescents ◽  
Clinical Case ◽  
Research Evidence ◽  
Small Body ◽  
Good Practice ◽  
Parental Authority ◽  
Relevant Research ◽  
Case Examples ◽  
Legal Advice ◽  
Consent To Treatment

English law on young people's consent to treatment and competence is complex and can even appear contradictory. For example, competent minors can consent, but their refusal can be overruled by the consent of a person with parental authority or by the court. This paper is an attempt to make sense of the topic for clinicians. It includes a discussion of the law and the small body of relevant research evidence. There are clinical case examples, checklists and guidelines for good practice. However, it is not a substitute for legal advice, which should be sought wherever doubt remains.

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