Therapierefrakt?re Hypertonie

Sympathetic overexpression can be found in a majority of hypertensive patients. Resistant arterial hypertension requires a targeted diagnostic procedure in order to exclude secondary causes of hypertension which can be treated specifically with established therapies. If secondary reasons are not identified, the antihypertensive medication is already optimal and lifestyle changes have been realized, but still the goal of antihypertensive therapy cannot be achieved, alternative invasive therapy strategies such as renal sympathetic denervation and baroreflex activation have been developed to achieve blood pressure control. These therapies are restricted to specialized centers which treat well-defined patients with therapy-resistant hypertension. Little long-term data concerning safety and efficacy are available for the two strategies. However, they should preferably be used as an ultima-ratio and add-on pathway to conservative procedures when established medication fails to achieve blood pressure control. To date, the effectiveness of the interventional antihypertensive therapies has only been shown on patients with systolic blood pressure over 160?mmHg and a mean oral medication of five drugs.     

Therapierefraktäre Angina pectoris im Endstadium der koronaren Herzkrankheit Neuromodulation als Chance?

Zusammenfassung “Refrakt?re” Angina pectoris beschreibt ein chronisch viszerales Schmerzsyndrom, welches die Lebensqualit?t im besonderen Ma?e beeintr?chtigt. Nach meist extensiver medikament?ser, interventioneller und operativer Vorbehandlung kann die Symptomatik durch Intensivierung der medikament?sen Therapie, operative Myokardrevaskularisation oder Koronarangioplastie nicht weiter gebessert werden. Als weitere Behandlungskonzepte kommen daher verschiedene Therapieans?tze zur Anwendung, insbesondere die Neuromodulation, die Opiatapplikation, die zervikale bzw. zervikothorakale Sympathektomie, die myokardiale Laserbehandlung sowie die intermittierende Urokinasetherapie. Diese Fallbeschreibung beschreibt exemplarisch die epidurale Elektrostimulation des Rückenmarks (SCS) als effektive und minimal-invasive Behandlungsoption bei einem Patienten mit therapieresistenter Angina pectoris.     

Primäre ziliäre Dyskinesie

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective structure or function of normally motile cilia, leading to chronic upper and lower respiratory tract infections, fertility problems and organ site abnormalities. The PCD is a genetically heterogeneous condition entailing a broad range of different disease variants. Diagnosing these different PCD phenotypes requires a combined approach using complementary methods for detection of defects of ciliary function, ultrastructure and composition as well as low nasal nitric oxide values and biallelic genetic mutations. To date, mutations in 31 different genes have been linked to PCD permitting a genetic diagnosis in approximately 60?% of cases. Due to the lack of adequate trials evidence-based knowledge on the epidemiology, disease course and management of PCD is currently lacking. An international PCD registry has been developed to overcome these limitations (www.pcdregistry.eu) and is currently recruiting patients. Current treatment regimens have to rely on expert opinions and on experience gained from other respiratory diseases. The management of PCD includes surveillance of pulmonary function, culturing upper and lower airway secretions and diagnostic imaging. Daily airway clearance techniques as well as prompt antibiotic treatment of infections are the cornerstones of PCD treatment regimens.     

Primäre und sekundäre Neutropenie

Severe chronic neutropenia (SCN) comprises a heterogeneous group of disorders with a common hematological and clinical phenotype characterized by absolute neutrophil counts (ANC) below 0,5???10⁹/l and increased risk of severe bacterial infections. The differentiation between primary and secondary neutropenia and the identification of causative gene mutations is of great importance for the estimation of prognosis. During childhood primary autoimmune neutropenia is the most frequent diagnosis, while secondary neutropenia predominates in adulthood. Despite the rarity, congenital, genetic neutropenias are of great value for research on normal and pathological hematopoiesis and have a fundamental impact on the current knowledge on hematopoiesis. To date mutations in more than 10 genes have been described which are mainly associated with an increased risk for leukemia. The treatment with hematopoietic growth factors has improved the long-term prognosis of SCN patients dramatically: Bacterial infections can be prevented and a normal participation in everyday life is possible.     

Primäre und sekundäre Osteoporose

Bone metabolism as an important part of internal medicine is covered by endocrinologists, rheumatologists and nephrologists. Primary osteoporosis is an inheritable metabolic bone disease, which can be strongly modified by lifestyle, ageing and underlying diseases. Chronic inflammatory diseases, disorders of metabolism and nutritional deficits enhance the risk. Secondary osteoporosis is caused by endocrinological disorders and drugs such as glucocorticoids. It is the task of internists to clinically recognise and diagnose prominent individual risk factors for primary osteoporosis and underlying diseases for secondary osteoporosis. The key competence of internal medicine in metabolism, hormone-related disorders, malignant diseases and in handling complex medical treatment modalities represents an indispensable segment of an interdisciplinary network approach in patient care, research and teaching. This network includes orthopaedic surgery, paediatrics and gynaecology in addition to other specialities.     

Therapierefrakt?re Thrombozytopenie bei einem 28-j?hrigen Patienten

We report a case of a patient with thrombocytopenia. A sporadic MYH9-associated disease, May Hegglin anomaly, was identified by giant platelets, leucocyte inclusion bodies and the typical distribution of NMMHC-IIA in granulocytes in the absence of impaired renal function, cataract and hearing loss. MYH9-associated diseases are an underestimated differential diagnosis of idiopathic thrombocytopenia. The correct diagnosis is important to prevent unnecessary treatment of a patient with thrombocytopenia and to provide sufficient patient information and genetic counseling. Therefore, careful examination of the blood smear has to be the first diagnostic step in a case of unexplained thrombocytopenia.     

Sekundäre Diabetesformen

Other types of diabetes include diabetes forms which are induced by diseases of the pancreas or liver as well as drug-induced diabetes. In this context endocrine disorders as the cause of secondary diabetes are of special clinical interest: On the one hand a chronically insufficient metabolic control of diabetes can change endocrine parameters (e.g. thyroid hormone, growth hormone), while on the other hand acute imbalance of glucose control in diabetic patients could be induced by endocrine diseases. Hyperthyroidism in diabetics leads to increased insulin resistance and reduced insulin secretion, resulting in pronounced hyperglycemia. In contrast, hypothyroidism leads to increased insulin sensitivity and greater risk of hypoglycemia, especially in insulin-dependent diabetes. Pathologically increased growth hormone secretion and diseases of the adrenal gland may have pronounced effects on glucose metabolism. Given the known association between type 1 diabetes and other autoimmune endocrinopathies (polyglandular autoimmune syndrome, PAS), annual screening for these patients and their near relatives is recommended.     

Ventrikuläre Tachykardien

Dilative cardiomyopathy (DCM) has an incidence of 5–8/100,000 inhabitants, and hypertrophic cardiomyopathy an incidence of 1/500 inhabitants. Depending on specific risk factors both conditions have an increased risk for sudden cardiac death (SCD): in DCM reduced left ventricular ejection fraction and reduced physical capacity; and in HCM SCD in family members, left ventricular septum? >?30 mm, unclear syncope, non-sustained ventricular tachycardia (VT) on holter-ECG and inadequate blood pressure response on ergometer. Especially patients with intermediary risk factors are insufficiently classified, and the lifesaving implantation of a cardioverter-defibrillator (ICD) often leads to a significant number of device-related complications. In this area additional methods like late enhancement imaging with cardio MRI, identification of genetic variation and ECG characteristics could help improve risk stratification in these patients.     

Die Intimsphäre

Background

A fundamental aim of social science and for practitioners is the improvement of the quality of life of inpatients residing in long-term care homes. This research aims to determine aspects of their privacy in the context of quality of life from the residents’ perspective, which has long been neglected.

Materials and method

A total of 42 narrative interviews with nursing home residents were conducted and analyzed using the documentary method.

Results

Four dimensions of privacy were identified. Intimate areas concern personal hygiene and toilet matters, non-intimate areas included mainly eating and the residents’ private living area. Violations of privacy are associated with unpleasant feelings such as shame and disgust and are often subject to taboos. Respondents tended to be more open to talk about taboo subjects the less the topic referred to their own body.

Conclusion

Privacy is perceived as a significant aspect of the respondents’ quality of life. To be able to address inhibition thresholds and shameful topics, a good relationship between patient and personnel is required. This postulates that the caregivers are also aware of their own inhibition threshold and negative feelings.     

Hereditäre Nephropathien

Both thin basement membrane nephropathy and Alport syndrome are hereditary diseases affecting the glomerular basement membranes. The basic genetic defects of all cases with Alport syndrome and approximately 40% of thin basement membrane nephropathy cases are mutations in the α3, α4 or α5 chains of type IV collagen. Although the clinical course of both diseases is very different, the initial phase is characterized by glomerular hematuria. It is often not possible to make the distinction on clinical grounds. The diagnosis can be made by renal biopsy if electron microscopy is performed. Additional immunohistochemistry of the α3(IV) and α5(IV) chain is very helpful to make a definite diagnosis in up to 80% of Alport cases. In addition, female carriers of the X-linked form can be identified.     

Renovaskuläre Hypertonie

Zusammenfassung Die atherosklerotische Nierenarterienstenose ist die häufigste Ursache der renovaskulären Hypertonie (RVH). Klinische Merkmale lenken den Verdacht auf das Vorliegen einer RVH. Bei betroffenen Patienten können durch eine nichtinvasive Diagnostik mit Duplexsonographie, CT- oder MR-Angiographie Hinweise auf eine Nierenarterienstenose gefunden werden. Durch die intraarterielle Angiographie erfolgt dann die endgültige morphologische Sicherung der Stenose. Bisher gelingt es mit diesen Methoden jedoch nicht, die Auswirkungen revaskularisierender Maßnahmen auf den postinterventionellen Verlauf der Hypertonie zu prognostizieren. Hypertensive Patienten mit signifikanter Nierenarterienstenose können medikamentös und/oder durch interventionelle Maßnahmen behandelt werden (Angioplastie der Nierenarterie mit/ohne Stentimplantation; chirurgische Revaskularisation). Randomisierte Studien, die eine invasive oder medikamentöse Therapie vergleichen, belegen keine Überlegenheit eines der Therapieverfahren zur Behandlung von Hypertonie oder renalem Funktionsverlust. Die Indikation zum invasiven Vorgehen muss daher sehr kritisch gestellt werden.     

Arrhythmogene rechtsventrikuläre Kardiomyopathie

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disease and a major cause of sudden cardiac death and ventricular tachyarrhythmia in young, apparently healthy individuals and athletes. Patients affected by ARVC should be excluded from competitive sports and vigorous training. To provide optimal treatment, early diagnosis and risk stratification are mandatory and genetic counseling of families is recommended. Tailored treatment strategies aim at the prevention of ventricular tachyarrhythmia and sudden death as well as the preclusion of disease progression and symptomatic heart failure. Patients with a low risk of sudden death need either no specific treatment or can be treated with beta blockers or antiarrhythmic drugs, depending on the clinical manifestation of the arrhythmia. Catheter ablation in ARVC constitutes a symptom-oriented and palliative approach for frequently relapsing ventricular tachycardia refractory to antiarrhythmic medication. However, despite good acute results of catheter ablation, there is a high incidence of recurrence during long-term follow-up. In patients with ARVC at high risk of sudden death, implantation of an implantable cardioverter defibrillator (ICD) improves long-term survival by detection and termination of life-threatening ventricular arrhythmias. In the long term, however, the cumulative incidence of mainly lead-related complications of ICD therapy must be considered in the young population with ARVC, particularly when the indications are for primary prevention of sudden death or life-threatening arrhythmias. The proposed algorithm of therapeutic management in ARVC is under constant validation, development and refinement.     

Autoimmun polyglanduläre Syndrome

Zusammenfassung Autoimmune polyglanduläre Syndrome sind seltene Endokrinopathien, die auch in Kombination mit nicht endokrinen Autoimmunerkrankungen auftreten können. Man unterscheidet das autoimmun polyglanduläre Syndrom Typ 1 (Autoimmunes Polyendokrinopathie-Candidiasis-Ektodermales Dystrophie-Syndrom; APECED-Syndrom) vom autoimmun polyglandulären Syndrom Typ 2 (APS-2). Hauptkomponenten des APECED-Syndroms sind eine Nebennierenrindeninsuffizienz, ein Hypoparathyreoidismus und eine mukokutane Kandidiasis. Das APECED-Syndrom ist mit Mutationen des Autoimmunregulatorgens (AIRE) assoziiert und betrifft v. a. Kinder und Jugendliche bestimmter ethnischer Gruppen. Das APS-2-Syndrom ist durch das Auftreten einer Autoimmunthyreopathie, Nebennierenrindeninsuffizienz und/oder Diabetes mellitus Typ 1 charakterisiert. Das APS-2-Syndrom ist nicht AIRE-assoziiert und besitzt im Vergleich zum APECED-Syndrom eine höhere Inzidenz. Es betrifft v. a. erwachsene Frauen ohne Bevorzugung einer ethnischen Gruppe. Die Therapie beider Syndrome basiert derzeit hauptsächlich auf der Hormonsubstitution und Behandlung der Symptome. Beim APECED-Syndrom war in einzelnen Fällen eine immunsuppressive Therapie erfolgreich.     

Rechtsventrikuläre Tachyarrhythmien—

Ventricular tachyarrhythmias originating from the right ventricle frequently occur in young, apparently healthy patients with rare underlying cardiac diseases. Among these are arrhythmogenic right ventricular cardiomyopathy (ARVC), idiopathic right ventricular outflow-tract tachycardia (RVOVT), and Brugada syndrome (BrS). All harbor the risk of sudden cardiac death, whereas they differ substantially as to diagnosis, therapy and prognosis. This is the reason why detailed investigations are an essential prerequisite for further efficient individualized management strategies which are mainly directed to prevent sudden cardiac death and to minimize the risk of arrhythmia recurrences in affected patients, respectively. Both antiarrhythmic drug therapy, catheter ablation, and the implantation of an automatic cardioverter defibrillator may, therefore, be a first-line therapeutic option in tailored treatment regimens. This review is a summary of the available literature on pathogenesis, diagnosis, treatment, and prognosis of such diseases associated with right ventricular tachyarrhythmias.     

Das hypophysäre Koma

Pituitary coma is a rare case of emergency and primarily due to ACTH and TSH deficiency. Pituitary coma occurs more often in patients with well-known pituitary deficiency than in patients with intrasellar tumor. Clinical manifestations are hypotonia, bradycardia, decreased skin and nipple pigmentation, muscle weakness, vomitus, nausea, obstipation, hypothermia, and hypoventilation. A postpartal agalactia is often the first sign of Sheehan's syndrome. Unlike primary adrenal insufficiency (Addison's disease) ACTH deficiency does not cause hyperpigmentation, hyperkalemia, or salt loss. The suspicion of pituitary coma requires replacement with 100 mg hydrocortisone iv, 200 mg hydrocortisone iv/24 h, 500 micro g levothyroxine iv and fluid substitution. Since thyroxine accelerates the degradation of cortisol and can precipitate adrenal crisis in patients with limited pituitary reserve, hydrocortisone replacement should always precede levothyroxine therapy. ACTH stimulation test, CRH stimulation test and insulin tolerance test (optional) should be performed after therapeutic compensation to determine pituitary function.     

Das extramedulläre Plasmocytom

Ohne ZusammenfassungMit 5 Textabbildungen.Dissertation der Universität Zürich. Arbeit unter Leitung von P. D.Dr.Zuppinger.     

Arrhythmogene rechtsventrikuläre Kardiomyopathie

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary, genetically determined heart muscle disease and a major cause of ventricular tachyarrhythmia and sudden cardiac death in young, apparently healthy individuals and athletes. In ARVC, mutations in genes encoding for desmosomal cell contact proteins result in myocardial atrophy with subsequent fibrofatty replacement, predominantly affecting the right ventricular myocardium. Left ventricular involvement can also occur early in the disease process. The structural abnormalities lead to global and/or regional dysfunction of the right or both ventricles and to the dominant clinical manifestation with ventricular tachyarrhythmia. A primary manifestation of ARVC with clinically relevant signs and symptoms of heart failure is rare. Genetic counselling is indicated in all index patients with ARVC and their families. Genetic testing, however, is recommended only under particular circumstances (e.g. cascade screening). An early and correct diagnosis is crucial for risk stratification, treatment and prognosis of ARVC. The catalogue of diagnostic criteria (major and minor criteria) includes electrocardiogram (ECG) findings of depolarization and repolarization, arrhythmia, morphological and functional imaging, histopathology and genetics. These diagnostic criteria are currently under prospective validation in clinical studies and registries.     

Schwere therapierefraktäre Osteoporose

Systemic mastocytosis is defined as a clonal increase of mast cells. We report on four patients with severe osteoporosis and histologically confirmed systemic mastocytosis. In spite of antiresorptive therapy the patients developed further vertebral fractures and suffered from ostealgia. Systemic mastocytosis is an important differential diagnosis in patients with therapy refractive and unexplained osteoporosis. Skin involvement (urticaria pigmentosa) is a rare occurrence and in most cases an isolated involvement of bone marrow is present. Determination of serum tryptase can provide indications for systemic mastocytosis but the diagnosis is only confirmed by bone marrow biopsy. There is a high risk of vertebral fractures and patients should be treated in specialized centers. Zoledronic acid can be a therapeutic option for indolent osteoporosis associated with systemic mastocytosis.