Deciding on Gender in Children with Intersex Conditions

Biologic factors such as genetic and hormonal influences contribute to gender identity, gender role behavior, and sexual orientation in humans, but this relationship is considerably modified by psychologic, social, and cultural factors. The recognition of biologically determined conditions leading to incongruity of genetically determined sex, somatic phenotype, and gender identity has led to growing interest in gender role development and gender identity in individuals with intersex conditions. Sex assignment of children with ambiguous genitalia remains a difficult decision for the families involved and subject to controversial discussion among professionals and self-help groups. Although systematic empirical data on outcomes of functioning and health-related quality of life are sparse, anecdotal evidence from case series and individual patients about their experiences in healthcare suggests traumatic experiences in some. This article reviews the earlier 'optimal gender policy' as well as the more recent 'full consent policy' and reviews published data on both surgical and psychosocial outcomes. The professional debate on deciding on sex assignment in children with intersex conditions is embedded in a much wider public discourse on gender as a social construction. Given that the empirical basis of our knowledge of the causes, treatment options, long-term outcomes, and patient preferences is insufficient, we suggest preliminary recommendations based on clinical experience, study of the literature, and interviews with affected individuals.     

Empfehlungen zu Ernährung und Bewegung von Kleinkindern

Monatsschrift Kinderheilkunde -     

Histone methyltransferase Suv39h1 deficiency prevents Myc‐induced chromosomal instability in murine myeloid leukemias

Suv39h1 mediates heterochromatin formation in pericentric and telomeric regions by trimethylation of lysine 9 of histone 3 (H3K9me3). Yet, its role in the induction of chromosomal instability is poorly understood. We established a leukemia model by retrovirally expressing Myc in wild‐type and histone methyltransferase Suv39h1‐deficient hematopoietic cells and characterized the resulting leukemias for chromosomal instability. All mice that received cells overexpressing Myc developed myeloid leukemia with a median survival of 44 days posttransplantation. Myc‐overexpressing wild‐type leukemias demonstrated clones with numerical chromosomal aberrations (5/16). In secondary transplantations of these leukemic cells, structural changes, mostly end‐to‐end fusions of chromosomes, appeared (10/12). In contrast, leukemic cells overexpressing Myc with reduced or no Suv39h1 expression had a normal karyotype in primary, secondary, and tertiary transplantations (16/16). Myc‐transduced Suv39h1‐deficient cells showed less critically short telomeres (P < 0.05) compared with Myc‐transduced wild‐type bone marrow cells. Gene expression analysis showed upregulation of genes involved in the alternative lengthening of telomeres (ALT) mechanism. Thus, we hypothesize that loss of Suv39h1 implies activation of the ALT mechanism, in turn ensuring telomere length and stability. Our data show for the first time that Suv39h1 deficiency may prevent chromosomal instability by more efficient telomere stabilization in hematopoietic bone marrow cells overexpressing Myc. © 2013 Wiley Periodicals, Inc.     

Three-dimensional,three-vector-component velocimetry of cilia-driven fluid flow using correlation-based approaches in optical coherence tomography

Microscale quantification of cilia-driven fluid flow is an emerging area in medical physiology, including pulmonary and central nervous system physiology. Cilia-driven fluid flow is most completely described by a three-dimensional, three-component (3D3C) vector field. Here, we generate 3D3C velocimetry measurements by synthesizing higher dimensional data from lower dimensional measurements obtained using two separate optical coherence tomography (OCT)-based approaches: digital particle image velocimetry (DPIV) and dynamic light scattering (DLS)-OCT. Building on previous work, we first demonstrate directional DLS-OCT for 1D2C velocimetry measurements in the sub-1 mm/s regime (sub-2.5 inch/minute regime) of cilia-driven fluid flow in Xenopus epithelium, an important animal model of the ciliated respiratory tract. We then extend our analysis toward 3D3C measurements in Xenopus using both DLS-OCT and DPIV. We demonstrate the use of DPIV-based approaches towards flow imaging of Xenopus cerebrospinal fluid and mouse trachea, two other important ciliary systems. Both of these flows typically fall in the sub-100 μm/s regime (sub-0.25 inch/minute regime). Lastly, we develop a framework for optimizing the signal-to-noise ratio of 3D3C flow velocity measurements synthesized from 2D2C measures in non-orthogonal planes. In all, 3D3C OCT-based velocimetry has the potential to comprehensively characterize the flow performance of biological ciliated surfaces.OCIS codes: (110.4500) Optical coherence tomography, (120.7250) Velocimetry, (170.3340) Laser Doppler velocimetry, (170.6480) Spectroscopy, speckle     

Successful Delivery of RRT in Ebola Virus Disease

AKI has been observed in cases of Ebola virus disease. We describe the protocol for the first known successful delivery of RRT with subsequent renal recovery in a patient with Ebola virus disease treated at Emory University Hospital, in Atlanta, Georgia. Providing RRT in Ebola virus disease is complex and requires meticulous attention to safety for the patient, healthcare workers, and the community. We specifically describe measures to decrease the risk of transmission of Ebola virus disease and report pilot data demonstrating no detectable Ebola virus genetic material in the spent RRT effluent waste. This article also proposes clinical practice guidelines for acute RRT in Ebola virus disease.     

Neue Optimierungswege der allgemeinärztlichen Betreuung bei Typ-2-Diabetes

Background

The care of diabetes patients is mostly undertaken by general practitioners. In order to achieve sufficient control of blood sugar levels and blood pressure in patients and thus to avoid complications and secondary diseases, a patient-centered disease management and support of patient self-management are essential. These functions can be partially delegated.

Aim

The DIANA study is an epidemiological physician-based prospective cohort study on new approaches for optimization of general practitioner care. The objectives were to investigate the current status of diabetes care as well as the consequences of a patient-centered treatment approach on the course of diabetes. Furthermore, the effectiveness of a supportive telephone counseling service over 12 months by trained medical practice personnel was investigated.

Material and methods

The DIANA study consists of a basic survey and an interventional study. A total of 38 general medical practices with 1,146 patients diagnosed with type 2 diabetes were included. For the basic survey standardized questionnaires were completed by the patients and their physicians. Furthermore, blood samples were taken from patients for determination of HbA1c levels in a certified laboratory. Patients with HbA1c levels >?7.5?% in the basic survey were eligible for inclusion in the interventional study. In this subpopulation of 204 patients the effectiveness of an intervention with telephone support by trained personnel from the medical practices in the study was investigated. The patients who agreed to participate were randomized to either the intervention group or the control group. The control group received usual care.

Results

Mean HbA1c was 6.9?% in this sample and thus within the target corridor of the new German clinical practice guidelines on type 2 diabetes of 6.5–7.5?%. Nevertheless, about one fifth of the patients’ values were above the corridor and thus in a dissatisfactory zone. In addition, participating patients had considerable comorbidities, such as hypertension, coronary heart disease, cardiac insufficiency, and depression. Another problem was medication adherence among patients. Self-reported medication adherence was associated with poor glycemic control, especially in men. Young, employed and unmarried patients and those with depression symptoms were particularly at risk. The intervention had only limited effects. The primary outcome HbA1c decreased likewise in both groups. A decrease of systolic blood pressure was observed in the intervention group, but which was not sustained after the end of the intervention. It was only after the end of the intervention that health-related quality of life improved in the intervention group.

Conclusion

There is a large problem group of diabetes patients with an unsatisfactory metabolic situation. General practitioners should concentrate on these patients and be aware that younger, employed and single as well as depressive patients are particularly affected. A long-term accompaniment by trained personnel could be useful.