Diagnostic challenges for a novel SH2D1A mutation associated with X‐linked lymphoproliferative disease

Mutations in SH2D1A, encoding the intracellular adaptor signaling lymphocyte activation molecule associated protein (SAP), are associated with X‐linked lymphoproliferative disease type 1 (XLP1). We identified a novel hemizygous SH2D1A c.49G > A (p.E17K) variant in a 21‐year‐old patient with fatal Epstein‐Barr virus infection–associated hemophagocytic lymphohistiocytosis. Cellular and biochemical assays revealed normal expression of the SAP variant protein, yet binding to phosphorylated CD244 receptor was reduced by >95%. Three healthy brothers carried the SH2D1A c.49G > A variant. Thus, data suggest that this variant represents a pathogenic mutation, but with variable expressivity. Importantly, our results highlight challenges in the clinical interpretation of SH2D1A variants and caution in using functional flow cytometry assays for the diagnosis of XLP1.     

Relationships that Heal: Beyond the Patient-Healer Dyad in Mayan Therapy

Biomedicine fosters particular styles of interaction and behaviors, with the therapeutic relationship seen as occurring between a doctor and patient. In contrast, where alternative modalities of healing are practiced, relationships go beyond a dyadic interaction and include wider social networks. In this article, we propose the existence of a ‘therapeutic unit’ in Maya healing practices in Guatemala that binds healer, wellness seeker, family, and community members, along with the spiritual and natural realms, into a coherent system requiring all of these elements to achieve success. Drawing on interviews with 67 Maya healers, we describe healers’ understanding of raxnaq’il nuk’aslemal (well-being), and show how these interactions activate wider networks that play crucial roles during treatments. We highlight how holism is expressed in relationships typical of indigenous healing systems, and how an appreciation of this is important for developing culturally appropriate health care provision systems.     

Sicherheit von Blut und Blutprodukten: Testmethoden zum Nachweis der Hepatitisviren B, C und E

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz - Infektionen mit den Hepatitisviren B, C und E (HBV, HCV, HEV) sind über das Blut übertragbar...     

Repair of Left Ventricular Assist Device Driveline Damage Directly at the Transcutaneous Exit Site

With increasing support duration of cardiac assist devices, transcutaneous drivelines remain a weak point of the therapy. First, they can be an entry point for infections, and second, cable lesions and even electrical failures due to material fatigue and eventual carelessness can occur. We report a case of a damaged outer sheath of a ventricular assist device driveline cable directly at the exit site, where the standard repair procedure with self‐fusing tape may lead to biocompatibility problems and irritation of the entrance through the skin. Therefore, a new procedure was developed using a special sleeve expander tool and a highly expandable latex tubing to stabilize the defect in a flexible and biocompatible manner. A patient experienced a fracture of the outer sheath of a HeartWare HVAD driveline directly at the skin entrance (approximately 15 mm long, 5 mm distal from the skin). The metal strands and the electrical functionality were yet not affected, therefore, a pump exchange was not indicated. After considering several conventional solutions for repair as not applicable, a new approach was developed: a sleeve expander tool was applied, which allowed radial stretching of the latex tubing. After preparations of the tool and the cable site, the pump was briefly disconnected, the tubing was moved over the connector and was released at the site of fracture. The problem could be solved by keeping the cable's flexibility and without additional risks to the skin. Within a still ongoing (5‐month) follow‐up, the skin entrance returned to perfect condition and no further intervention was necessary. In conclusion, this method allows a quick stabilization and repair of damaged driveline isolations even near the exit site, resulting in a biocompatible surface and consistent flexibility of the cable.     

Neurological Sequelae in Adults After E coli O104: H4 Infection-Induced Hemolytic-Uremic Syndrome

In an outbreak of shiga toxin-producing Escherichia coli infections and associated hemolytic-uremic syndrome (STEC O104:H4) in Germany in the year 2011 neurological complications in adult patients occurred unexpectedly frequent, ranging between 48% and 100% in different patient groups. Few is known about the long-term effects of such complications and so we performed follow-up exams on 44 of the patients treated for STEC-HUS at Hannover Medical Scool in this observational study. Standardized follow-up exams including neurological and neuropsychological assessments, laboratory testing, magnetic resonance imaging (MRI), and EEG were carried out. Subgroups were examined 2 (n = 34), 7 (n = 22), and 19 (n = 23) months after disease onset. Additionally, at the 19-month follow-up, quality of life, sleep quality, and possible fatigue were assessed.Nineteen months after disease onset 31 patients were reassessed, 22 of whom still suffered from symptoms such as fatigue, headache, and attention deficits. In the neuropsychological assessments only 39% of the patients performed normal, whereas 61% scored borderline pathological or lower. Upon reviewal, the follow-up data most prominently showed a secondary decline of cognitive function in about one-quarter of the patients. Outcome was not related to treatment or laboratory data in the acute phase of the disease nor length of hospitalization. Prognosis of STEC-HUS associated brain dysfunction in adults with regard to severity of symptoms is mostly good; some patients however still have not made a full recovery. Patients’ caretakers have to be aware of possible secondary decline of brain function as was observed in this study.