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 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.     

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.     

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.     

Therapierefraktäre schwere Ileokolitis

The differential diagnosis of granulomatous intestinal diseases leads to recurrent false diagnoses. Our patient who was presenting with gastrointestinal complaints was first diagnosed as having Crohn's disease. Put on an immunosuppressive treatment, the symptoms deteriorated. Examination of sputum revealed acid-fast bacilli, later confirmed as M. tuberculosis in culture, and colonoscopy showed necrotizing granulomas, which lead us to the final diagnosis of abdominal tuberculosis. Our patient improved under an adequate tuberculostatic regime.     

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.     

Kardiovaskuläre Veränderungen bei Adipositas

BACKGROUND: Obesity is associated with a number of adaptations in the cardiovascular system like arterial hypertension, a hypervolemic circulation or left ventricular hypertrophy. PATHOBIOCHEMICAL MECHANISMS: The specific mechanisms underlying these sequelae of obesity are not fully understood. Metabolic factors like insulin-resistance or the elevated activation of the sympathetic and the renin-angiotensin-aldosteron system have effects on a number of vascular and cardiac parameters. In addition, elevated serum levels of proinflammatoric parameters like C-reactive protein, interleukin-6 and TNF-alpha are found in patients with obesity. The consequence is a drastic increase of cardiovascular mortality. CONCLUSION: Depending on the fat distribution and the relation between the increase of body fat mass and fat-free mass different effects on heart and vessels are reported. The most important obesity-associated implications on the cardiovascular system are discussed below.     

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.     

Kardiovaskuläre Prävention und Rehabilitation

The distinction between primary and secondary prevention has been abandoned in favor of cardiovascular prevention, mandating individual risk assessment. First, the individual cardiovascular risk of a person is determined by index diseases like myocardial infarction, peripheral arterial disease or other, or, if absent, by a score consisting of a number of conventional risk factors. According to current guidelines, cardiovascular prevention is indicated, as soon as the risk for fatal cardiovascular disease is > or = 5 %, equivalent to a risk for a major cardiovascular event of > or = 20 %. Non-pharmaceutical approaches are: refraining from smoking, mediterranean diet with fatty fish, physical activity and normal body weight. Blood pressure and diabetes mellitus are optimized. In addition, the following agents are used: platelet inhibitors, beta-blockers, ACE-inhibitors, statins and omega-3 fatty acids. A number of structural problems add to individual factors impeding optimal implementation of cardiovascular prevention in Germany.     

Die angeborene familiäre Hypoprokonvertinämie

Zusammenfassung Die Verfasser erläutern zwei Fälle von angeborener Hypoprokonvertinämie und die Blutgerinnungsuntersuchungen bei den Angehörigen, denen die Patienten entstammen.Sie geben eine Übersicht über alle bisher in der Fachliteratur veröffentlichten Fälle und bestimmen die wesentlichen klinischen und untersuchungstechnischen Merkmale der Krankheit, wie auch die angebrachten therapeutischen Maßnahmen. Außerdem geben sie einigen Hypothesen in der Frage des genetischen Verhaltens Ausdruck.     

Kardiovaskuläre Endorganschäden des Hochdrucks

Zusammenfassung Die arterielle Hypertonie ist die häufigste Form der Druckbelastung des linken Ventrikels. Bei länger bestehender arterieller Hypertonie entwickeln sich kardiovaskuläre Endorganschäden, die unter dem Begriff Hochdruckherz zusammengefasst werden. Dieser Begriff umfasst die stenosierende Makroangiopathie, koronare Mikroangiopathie, ischämische Kardiomyopathie, linksventrikuläre Hypertrophie, Störungen der Endothelfunktion, Fibrose des perivaskulären und interstitiellen Gewebes, einen erhöhten Sympathikotonus und degenerative Veränderungen der Aortenklappe. Als Frühveränderungen können eine diastolische Funktionsstörung und eine Einschränkung der Koronarreserve dokumentiert werden. Das klinische Bild des Patienten mit Hochdruckherz wird durch die Koronarinsuffizienz mit typischer Angina pectoris, aber auch Herzinsuffizienz (systolische und diastolische Dysfunktion) und Herzrhythmusstörungen bestimmt. Für die Erstdiagnostik und Verlaufskontrolle kommen unterschiedliche diagnostische Verfahren zum Einsatz. Primäres Therapieziel ist neben der effektiven Blutdrucknormalisierung die Rückführung der hypertensiv bedingten kardialen Veränderungen durch die Einleitung spezifischer Therapiemaßnahmen.