Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.

An amperometric enzyme biosensor has been applied for the detection of adrenaline. The adrenaline biosensor has been prepared by modification of an oxygen electrode with the enzyme laccase that operates at a broad pH range between pH 3.5 to pH 8. The enzyme molecules were immobilized via cross- linking with glutaraldehyde. The sensitivity of the developed adrenaline biosensor in different pH buffer solutions has been studied. (C) 2015 The Authors. Published by Elsevier Ltd.

Objective: Association of chronic adrenal insufficiency (AI) with reduced subjective health status and increased morbidity and mortality has been observed in retrospective analyses. We aimed to evaluate general morbidity and impairment in working life in a prospective study of patients with chronic primary and secondary AI (PAI/SAI).

Glucocorticoid receptor (GR) single nucleotide polymorphisms (SNP) may have an impact on clinical outcome parameters in patients with autoimmune Addison's disease (AAD). The GR-SNP rs6198 is associated with a relative GR-resistance to cortisol whereas the GR-SNP rs41423247 appears to increase sensitivity. Aim of this study was to determine the role of the GR-SNPs in German AAD patients in relation to daily Hydrocortisone (HC) -dose and Body mass index (BMI). AAD patients (n = 370, females (f)= 255, males (m)= 107) and healthy controls (HC; n = 372, f = 172, m = 200) were genotyped for rs6198 using real time PCR method and for rs41423247 by restriction fragment length polymorphism. Clinical parameters were collected by a questionnaire. Three groups were analyzed: HC dose < 20 mg low dose, 20 – 30 mg average dose, > 30 mg high dose; and BMI: < 18,5 underweight, 18,5 – 24,9 normal weight, 25 – 29.9 overweight, > 29.9 obesity. The case-control comparison showed no difference in both SNPs. However, in AAD patients with a low daily HC-dose the rs6198 homozygosity AA showed a trend to be more frequent than in HC while AG was found less frequently (pgenotype= 0.11). Beyond that the same AAD patients showed a trend to carry AA more frequently as well, compared to AAD patients with an average or high HCS-dose (pgenotype= 0.8). After subdividing AAD patients into males and females, male overweight AAD patients showed to be more frequently homozygous GG of rs41423247 HC (pgenotype= 0.03). The allele frequency G was carried more frequently in male overweight AAD patients than the allele C (pallele= 0.006) compared to HC. Our data suggest that the GR-SNP rs6198 may influence the sensitivity to HC-treatment in male AAD patients to gain weight. These observations extend the concept of pharmacogenomic variation under glucocorticoid treatment and may lead to individualized treatment strategies in AAD.

Bilateral adrenalectomy (blAdx) is a possible treatment of not controllable ACTH-dependent hypercortisolism. The follow-up is not standardized.

Context: Hashimoto's thyroiditis (HT) is a common autoimmune disease leading to thyroid destruction due to lymphocytic infiltration. Papillary thyroid carcinoma (PTC) on the other hand is the most common endocrine tumor. A bidirectional association of HT and PTC is described for a considerable time: (1) histological analyses of HT biopsies often show small PTCs; (2) PTC patients have a higher risk to develop autoimmune thyroiditis. As both disorders show lymphocytic infiltration as well as auto-antibodies directed against thyroglobulin (Tg) and thyroid peroxidase (TPO), the question raises whether there is an immune cross-reactivity in these diseases.

Patients with chronic adrenal insufficiency are at risk for adrenal crisis (AC). In AC rapid administration of parenteral glucocorticoids (GC) is key for survival. Our aim was to evaluate current management of AC and to establish time targets and limits for emergency treatment.

Aims: Adrenal cortical carcinomas (ACC) are rare endocrine neoplasm with poor prognosis. When diagnosed, ACCs are usually large and have invaded adjacent organs. Complete surgical resection remains the only potentially curative treatment for these patients. In this retrospective study we investigated the surgical outcome, disease free survival and overall survival of ACC patients treated at a single tertiary care hospital.

UNLABELLED HISTORY AND INITIAL FINDINGS: In a 75-year-old woman with unclear weight gain and typical signs of Cushing's syndrome, a pituitary microadenoma and hyperplasia of the left adrenal gland were diagnosed. She was referred for preoperative diagnostics. Her clinical appearance suggested hypercortisolism. INVESTIGATIONS The lab test suggested external glucocorticoid application. Basal ACTH and cortisol were low. DIAGNOSIS, TREATMENT AND FURTHER COURSE: The patients' phytotherapeutics received from a masseuse were analyzed in a special lab. The analysis showed that the pills were enriched with cortisone and hydrocortisone and were causal for the development of Cushing's syndrome and the symptoms of secondary adrenal insufficiency. CONCLUSION Symptoms of Cushing's syndrome develop during chronic exposure to glucocorticoids. The development of Cushing's syndrome depends on the patient's sensitivity and on the duration and dose of the glucocorticoid application. Clinical and laboratory studies precede imaging.

Autoimmune Addison's disease (AAD) results from the destruction of adrenal cells by an immune mediated inflammatory process. Autoantibodies (Abs) against 21-hydroxylase (21OH) are diagnostic markers present in 85 – 90% of newly diagnosed patients (pts). This rare disease is of poorly understood etiology, but genetic susceptibility is conferred by human leukocyte antigen (HLA) haplotypes DQ2 and DQ8. In many pts autoimmunity is not limited to adrenal cells, but extends to other hormone systems forming the autoimmune polyglandular syndrome type 2 (APS2). The aim of this study was to test, whether specific HLA alleles in combination with the 21OHAb status were associated with thyroid autoimmunity as detected by thyroid peroxidase autoantibodies (TPOAbs) in pts with AAD. German pts with AAD (n = 194) were genotyped for HLA by PCR. In addition, the TPOAbs were measured using an enzyme-linked immunosorbent assay and 21OHAbs with an in vitro transcription/translation method. The titers of Abs were quantified and defined as positive (pos) or negative (neg) [21OHAb> 48< Index; TPOAb> 100< UI/ml]. HLA high risk (R) alleles (DQ2and/orDQ8), 21OHAbpos and TPOAbpos were present in 71%, 86% and 36% of the AAD pts, respectively (resp.). Furthermore, in order to evaluate the effect of HLA/21OHAbs status on the production of TPOAbs the pts were divided into four groups (Gr):Gr1:HLAhigh-R/21OHAbneg; Gr2:HLAhigh-R/21OHAbpos; Gr3:HLAlow-R/21OHAbneg; Gr4:HLAlow-R/21OHAbpos. While the Gr2 and Gr4 had significantly higher concentration of TPOAbs in median (44.5 and 55 UI/ml) than Gr3 (1.3 UI/ml;p = 7.4 × 10-4 and 7.4 × 10-3, resp.) no difference was observed compared to Gr1. Also a correlation was found between 21OHAbs and TPOAbs titers (rho = 0.21, p = 0.01). Both the genetic background of AAD as detected by the HLA risk alleles DQ2/DQ8 and the status of the 21OHAbs are associated with thyroid autoimmunity in APS2. This combination may be an indicator of the enhanced risk of polyglandular destruction in AAD.

Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study

Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study

Zusammenfassung Anamnese und klinischer Befund: Bei einer 75-jährigen Patientin mit unklarer Gewichtszunahme und typischen Symptomen eines Cushing-Syndroms wurde ein Hypophysenmikroadenom sowie eine linksseitige Nebennierenrindenhyperplasie diagnostiziert. Sie stellte sich zur präoperativen Abklärung mit dem Verdacht auf Morbus Cushing vor. Das äußere Erscheinungsbild ließ einen Hypercortisolismus vermuten. Untersuchungen: Die laborchemische Analyse wies auf eine externe Glukokortikoidzufuhr hin. Die basalen Spiegel für ACTH und Cortisol waren niedrig. Diagnostik, Therapie und Verlauf: Von der Patientin mitgeführte, von einer Masseurin verabreichte Phytotherapeutika wurden im Speziallabor analysiert. Es stellte sich heraus, dass diese stark mit Cortison und Hydrocortison angereichert waren und bei der Patientin zu den typischen Problemen eines Cushing-Syndroms führten. Die Reduktion der Glukokortikoiddosis führte zu einem Glukokortikoidentzugs-Syndrom und den typischen Symptomen einer sekundären Nebennierenrindeninsuffizienz. Folgerung: Symptome eines Cushing-Syndroms entwickeln sich bei chronischer Exposition gegenüber Glukokortikoiden. Die Entwicklung eines Cushing-Syndroms ist neben der individuellen Sensitivität des Patienten abhängig von der Dauer und der Dosis der Glukokortikoidbelastung. Die Therapie orientiert sich nach klinischem und endokrinologischem Labor.

Graves' disease (GD) and Hashimoto's thyroiditis (HT) are the most common autoimmune thyroid diseases (AITDs) affecting up to 5% of the general population. In Caucasians HT has a prevalence of up to 4.60% and GD a prevalence of 1-2%. The aim of this study was to investigate the association between HLA-A2 and the AITDs GD and HT among Caucasians. HLA alleles of 33 patients with GD and 75 patients with HT were determined by serological typing. The frequency of HLA A2 was significantly reduced in GD (p=0.033) but not in HT (p=n.s.) as compared to control samples. In individuals positive for HLA-A2 odds ratio for protection from GD was found to be 2.8. This study supports the hypothesis that genetic predisposition to GD is not restricted to MHC class II molecules. The significant negative association between HLA A2 and GD supports the hypothesis that MHC class I genes may be relevant for the protection from GD. In contrast the nonsignificant results for HT indicate that this association may not apply to AITDs in general.

Drug Prescribing for Patients with Chronic Kidney Disease in General Practice: a Cross-Sectional Study