[An overview of porphyrias]. / Porphyrien ­ eine Übersicht.

Porphyrias are predominantly genetic metabolic disorders caused by dysregulation of specific enzymes in porphyrin-heme biosynthesis. The enzymatic dysfunction leads to formation and excretion of intermediate metabolic products in the form of porphyrins and/or their precursors δ­aminolevulinic acid and porphobilinogen, which have cyto- and tissue-toxic properties. Clinically, porphyrias are extremely diverse, with symptoms ranging from skin changes on light-exposed areas of the body to potentially life-threatening neurovisceral attacks. Biochemical tests in urine, blood and stool are used for diagnosis, which can be supplemented by molecular genetic analyses. Treatment of the various forms of porphyria is complex and often requires close interdisciplinary cooperation between different medical specialties.

Diagnostic spectrum and therapeutic efficiency in teledermatology-Results of the largest cohort study to date.

Timely and comprehensive dermatological care is a major challenge. Digitized medical consultation offers a possibility to overcome this problem. Here, we studied the diagnostic spectrum and treatment success in teledermatology in the largest cohort to date. Over 12 months, 21 725 individuals received a diagnosis and therapeutic advice using the asynchronous image-text method. In the context of quality management, 1802 individuals (~10%) of both sexes with a mean age of 33.7 years (SD 15.36) received a follow-up 3 months after the initial consultation to assess the treatment outcome. Of these, 81.2% did not require a face-to-face consultation. Therapeutic efficiency could be ascertained in 83.3% of the patients, whereas 10.9% did not improve, and 5.8% did not provide an information on the course of therapy. Teledermatology is a useful tool in digitalized medicine and complements the classical in-person dermatological examination, as shown by the high degree of treatment efficacy in this study. Although face-to-face consultations can not and should not be completely substituted by teledermatology it reflects a significant contribution to patient care and justifies the further expansion of digital structures in dermatological care.

Plasma Lipocalin 2 in Alzheimer's disease: potential utility in the differential diagnosis and relationship with other biomarkers.

BACKGROUND: Lipocalin-2 is a glycoprotein that is involved in various physiological and pathophysiological processes. In the brain, it is expressed in response to vascular and other brain injury, as well as in Alzheimer's disease in reactive microglia and astrocytes. Plasma Lipocalin-2 has been proposed as a biomarker for Alzheimer's disease but available data is scarce and inconsistent. Thus, we evaluated plasma Lipocalin-2 in the context of Alzheimer's disease, differential diagnoses, other biomarkers, and clinical data. METHODS: For this two-center case-control study, we analyzed Lipocalin-2 concentrations in plasma samples from a cohort of n = 407 individuals. The diagnostic groups comprised Alzheimer's disease (n = 74), vascular dementia (n = 28), other important differential diagnoses (n = 221), and healthy controls (n = 84). Main results were validated in an independent cohort with patients with Alzheimer's disease (n = 19), mild cognitive impairment (n = 27), and healthy individuals (n = 28). RESULTS: Plasma Lipocalin-2 was significantly lower in Alzheimer's disease compared to healthy controls (p < 0.001) and all other groups (p < 0.01) except for mixed dementia (vascular and Alzheimer's pathologic changes). Areas under the curve from receiver operation characteristics for the discrimination of Alzheimer's disease and healthy controls were 0.783 (95%CI: 0.712-0.855) in the study cohort and 0.766 (95%CI: 0.627-0.905) in the validation cohort. The area under the curve for Alzheimer's disease versus vascular dementia was 0.778 (95%CI: 0.667-0.890) in the study cohort. In Alzheimer's disease patients, plasma Lipocalin2 did not show significant correlation with cerebrospinal fluid biomarkers of neurodegeneration and AD-related pathology (total-tau, phosphorylated tau protein, and beta-amyloid 1-42), cognitive status (Mini Mental Status Examination scores), APOE genotype, or presence of white matter hyperintensities. Interestingly, Lipocalin 2 was lower in patients with rapid disease course compared to patients with non-rapidly progressive Alzheimer's disease (p = 0.013). CONCLUSIONS: Plasma Lipocalin-2 has potential as a diagnostic biomarker for Alzheimer's disease and seems to be independent from currently employed biomarkers.

Using bodily postures in the treatment of anorexia nervosa: Effects of power posing on interoception and affective states.

OBJECTIVE: Power posing involves the adoption of an expansive bodily posture. This study examined whether power posing could benefit individuals with anorexia nervosa (AN) and women with normal weight in regards to interoceptive ability and affective states. METHOD: Participants included 50 inpatients and outpatients with AN as well as 51 normal-weight women. Interoceptive accuracy (IAcc), measured by the heartbeat tracking task and interoceptive sensibility (IS), measured by confidence ratings, were assessed at baseline, after a single power posing session and after 1 week of daily training. Also, the short-term effects of power posing on subjective feelings of dominance, pleasantness, and arousal were investigated. RESULTS: Both groups increased in their IAcc after one power posing session. Also, there was a significant main effect of time on feelings of dominance and pleasantness in the short-term. Women with AN displayed lower levels of IS, dominance, and pleasantness as well as higher levels of arousal than women without AN. DISCUSSION: These findings suggest that power posing has the potential to increase IAcc, subjective feelings of power and pleasant affect in the short-term. Further research should investigate which mechanisms foster the effectiveness of this intervention to tailor it to the needs of women with AN.