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Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Peter Flüchter
Suicidality is a complex process with social, individual and medical aspects. Almost every doctor - regardless of discipline - must at some point treat and care for people in suicidal crises. It is important then, to assess the situation correctly and to recognize an acute suicidal risk. Below you will read what to look for and how you can help the patient the best in that difficult situation.
March 2018: Deutsche Medizinische Wochenschrift
Viola Andresen, Peter Layer
The irritable bowel syndrome (IBS) counts among the most prevalent chronic diseases. Clinically, the IBS is characterized by abdominal symptoms combined with irregular defecation, which are not explained by routine diagnostic tests. IBS is often triggered by enteric bacterial infections, and its pathogenesis involves disturbed enteric, gut-brain, and cerebral mechanisms. Diagnostic work-up must aim to establish a positive IBS diagnosis, and to exclude serious underlying differential diagnoses (such as neoplasia, inflammatory bowel disease, celiac disease and others)...
March 2018: Deutsche Medizinische Wochenschrift
Claudia Schadow, Hanna Schmidt, Alexander Schorcht, Frank Meyer
MEDICAL HISTORY AND CLINICAL FINDINGS:  A 43-year old male patient was admitted because of diffuse abdominal discomfort for two days, which had started in the upper abdomen; medical history, no previous surgical interventions at the abdomen. INVESTIGATIONS:  Gastroscopy and abdominal ultrasound revealed only a mild gastritis. Laboratory parameters: showed only a slight leucocytosis (10 610/µL). On the 1st day of the hospital stay, the patient developed a worsening of the abdominal symptoms with distended abdomen, sounding bowel movements and recurrent vomiting, which were interpreted as acute abdomen by the surgeon on call leading to the indication of a surgical intervention...
March 2018: Deutsche Medizinische Wochenschrift
Malte Milkau, Friedhelm Sayk
Thyroid storm and myxedema coma are the most severe clinical forms of thyroid dysfunction. While both hyper- and hypothyroidsm are common diseases, thyroid storm and myxedema coma are rare. Due to their unspecific signs and symptoms they are often difficult to diagnose. Both disorders are medical emergencies, which still show a significant mortality. The following article summarizes diagnostic tools and treatment options for these disorders.
March 2018: Deutsche Medizinische Wochenschrift
Gesine Meyer, Klaus Badenhoop
An adrenal crisis (Addisonian crisis) is an acute life-threatening complication of adrenal insufficiency. It occurs when hydrocortisone demand is not met by supplementation in the context of an infection - often gastrointestinal, fever, trauma, acute psychological or physical stress. Symptoms of weakness, nausea, muscle/joint pain and drowsiness may develop out of robust health within few hours. If overlooked, treated too late, with insufficient dose or route of application, there exists a considerable risk of mortality...
March 2018: Deutsche Medizinische Wochenschrift
Christina Schumann, Michael Faust
BACKGROUND:  Diabetic ketoacidosis and the hyperosmolar hyperglycemic state are the most serious diabetic emergencies. Before the discovery of insulin in 1921 by Banting and Best the diagnosis of type 1 diabetes was fatal ending in diabetic ketoacidosis equivalent to a torturous death. Today, mortality from diabetic ketoacidosis is low at approximately 2 %. But each death from these two acute metabolic complications of diabetes is potentially avoidable by improved patient and healthcare professional education...
March 2018: Deutsche Medizinische Wochenschrift
Dirk Skowasch, Johanna Klein, Rami Homsi, Carmen Pizarro
No abstract text is available yet for this article.
March 2018: Deutsche Medizinische Wochenschrift
Gerhard Hintze
No abstract text is available yet for this article.
March 2018: Deutsche Medizinische Wochenschrift
Martin Dübbers, Elena Nikolaou, Hans Fuchs, Janina Fischer, Hakan Alakus, Jessica Leers, Christiane Bruns, Grigore Cernaianu
BACKGROUND: Transumbilical laparoscopic-assisted appendectomy (TULAA) is fast and cost-effective since no endoloops, staplers or wound protection devices are used. We analyzed the effects of TULAA as first approach for perforated (PA) and non-perforated (NPA) appendicitis in children. PATIENTS: We performed a retrospective analysis of 181 children for whom TULAA was the first approach for appendicitis between October 2010 and March 2016. METHODS: Morbidity, additional laparoscopic instrument insertion (AI), conversions to open extraumbilical appendectomy (OC), and complications were evaluated...
March 15, 2018: Klinische Pädiatrie
Daniel Deimel
Clinical social work has established itself as a health-specific profession in Germany over the past 15 years. It refers to a bio-psycho-social health understanding and is particularly focused on hard-to-reach client groups. The concept of evidence-based practice is often criticized and rejected by parts of the profession and discipline of social work. The concepts of evidence-based medicine and clinical social work are associated with positive outcomes for clinical practice and professional development.
March 15, 2018: Das Gesundheitswesen
Clizia Guccione, Maria Camilla Bergonzi, Khaled M Awada, Vieri Piazzini, Anna Rita Bilia
The aim of this study was the development and characterization of lipid nanocarriers using food grade components for oral delivery of Serenoa repens CO2 extract, namely microemulsions (MEs) and self-microemulsifying drug delivery systems (SMEDDSs) to improve the oral absorption. A commercial blend (CB) containing 320 of S. repens CO2 extract plus the aqueous soluble extracts of nettle root and pineapple stem was formulated in two MEs and two SMEDDSs. The optimized ME loaded with the CB (CBM2) had a very low content of water (only 17...
March 15, 2018: Planta Medica
Sofia Vallila-Rohter, Laura Kasparian, Olga Kaminski, Megan Schliep, Semra Koymen
No abstract text is available yet for this article.
February 2018: Seminars in Speech and Language
Mohan Paudel, Sara Javanparast, Gouranga Dasvarma, Lareen Newman
OBJECTIVE AND THE CONTEXT: This paper examines the beliefs and experiences of women and their families in remote mountain villages of Nepal about perinatal sickness and death and considers the implications of these beliefs for future healthcare provision. METHODS: Two mountain villages were chosen for this qualitative study to provide diversity of context within a highly disadvantaged region. Individual in-depth interviews were conducted with 42 women of childbearing age and their family members, 15 health service providers, and 5 stakeholders...
2018: PloS One
Masaru Hiki, Hiroshi Iwata, Yuko Kawaguchi, Kazuhisa Takamura, Makoto Hiki, Tetsuro Miyazaki, Shinichiro Fujimoto, Atsushi Amano, Hiroyuki Daida
A giant right coronary artery aneurysm (60 × 70 mm in size) was incidentally found by chest X-ray as an abnormal right atrial enlargement, and it needed surgical resection. Although the majority of giant coronary artery aneurysms present with symptoms of coronary ischemia, this case presented without any specific symptom. This study indicates that when chest X-ray shows abnormal atrial enlargement, a differential diagnosis of giant coronary artery aneurysm may need to be considered.
March 15, 2018: Cardiology
Ines Marek, Robert Becker, Fabian B Fahlbusch, Carlos Menendez-Castro, Wolfgang Rascher, Christoph Daniel, Gudrun Volkert, Andrea Hartner
BACKGROUND/AIMS: Healing of mesangioproliferative glomerulonephritis involves degradation of excess extracellular matrix, resolution of hypercellularity by apoptosis and phagocytosis of apoptotic cells. Integrin receptors participate in the regulation of phagocytosis. In mice deficient for alpha8 integrin (Itga8-/-) healing of glomerulonephritis is delayed. As Itga8 is abundant in mesangial cells (MC) which are non-professional phagocytes, we hypothesized that Itga8 facilitates phagocytosis of apoptotic cells and matrix components by MC...
March 10, 2018: Cellular Physiology and Biochemistry
Michael Schmid, Claus Steinlein
A detailed cytogenetic study on the leaf litter frog Eleutherodactylus johnstonei from 14 different Caribbean islands and the mainlands of Venezuela and Guyana revealed the existence of multimorphic XY♂/XX♀ sex chromosomes 14. Their male sex determination and development depends either on the presence of 2 telocentric chromosomes 14 (XtYt), or on 1 submetacentric chromosome 14 (Xsm) plus 1 telocentric chromosome 14 (Yt), or on the presence of 2 submetacentric chromosomes 14 (XsmYsm). The female sex determination and development requires either the presence of 2 telocentric chromosomes 14 (XtXt) or 2 submetacentric chromosomes 14 (XsmXsm)...
March 16, 2018: Cytogenetic and Genome Research
Ali Abbara, Shakunthala Narayanaswamy, Chioma Izzi-Engbeaya, Alexander N Comninos, Sophie Clarke, Zainab Malik, Deborah Papadopoulou, Ailish Clobentz, Zubair Sarang, Paul Bassett, Channa Jayasena, Waljit S Dhillo
<br>Background: Male testosterone levels decline by 1% per year from the age of 40yrs. Whilst a primary testicular deficit occurs, hypothalamic or pituitary dysregulation may also coexist. This study aimed to compare the hypothalamic response to kisspeptin and the pituitary response to GnRH of older men with those of young men. METHODS: Following 1 hour of baseline sampling, healthy older men (n=5, mean age 59.3±2.9yrs) received a 3 hour intravenous infusion (IVI) of either: vehicle, kisspeptin-54 0...
March 15, 2018: Neuroendocrinology
Ni Zhu, Bing Yi, Zhifu Guo, Guanxin Zhang, Shengdong Huang, Yongwen Qin, Xianxian Zhao, Jianxin Sun
BACKGROUND/AIMS: Pim-1 is a serine/threonine kinase that is highly expressed in the heart, and exerts potent cardiac protective effects through enhancing survival, proliferation, and regeneration of cardiomyocytes. Its myocardial specific substrates, however, remain unknown. In the present study, we aim to investigate whether Pim-1 modulates myofilament activity through phosphorylation of cardiac troponin I (cTnI), a key component in regulating myofilament function in the heart. METHODS: Coimmunoprecipitation and immunofluorescent assays were employed to investigate the interaction of Pim-1 with cTnI in cardiomyocytes...
March 10, 2018: Cellular Physiology and Biochemistry
Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
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