Revisiting the radiographic assessment of osteoporosis-Osteopenia in children 0-2 years of age. A systematic review

Background Imaging for osteoporosis has two major aims, first, to identify the presence of low bone mass (osteopenia), and second, to quantify bone mass using semiquantitative (conventional radiography) or quantitative (densitometry) methods. In young children, densitometry is hampered by the lack of reference values, and high-quality radiographs still play a role although the evaluation of osteopenia as a marker for osteoporosis is subjective and based on personal experience. Medical experts questioned in court over child abuse, often refer to the literature and state that 20–40% loss of bone mass is warranted before osteopenia becomes evident on radiographs. In our systematic review, we aimed at identifying evidence underpinning this statement. A secondary outcome was identifying normal references for cortical thickness of the skeleton in infants born term, < 2 years of age. Methods We undertook systematic searches in Medline, Embase and Svemed+, covering 1946–2020. Unpublished material was searched in Clinical trials and International Clinical Trials Registry Platform (ICTRP). Both relevant subject headings and free text words were used for the following concepts: osteoporosis or osteopenia, radiography, children up to 6 years. Results A total 5592 publications were identified, of which none met the inclusion criteria for the primary outcome; the degree of bone loss warranted before osteopenia becomes visible radiographically. As for the secondary outcome, 21 studies were identified. None of the studies was true population based and none covered the pre-defined age range from 0–2 years. However, four studies of which three having a crossectional and one a longitudinal design, included newborns while one study included children 0–2 years. Conclusions Despite an extensive literature search, we did not find any studies supporting the assumption that a 20–40% bone loss is required before osteopenia becomes visible on radiographs. Reference values for cortical thickness were sparse. Further studies addressing this important topic are warranted.publishedVersio

Cellular localization of the potassium channel Kir7.1 in guinea pig and human kidney

Cellular localization of the potassium channel Kir7.1 in guinea pig and human kidney.BackgroundK+ channels have important functions in the kidney, such as maintenance of the membrane potential, volume regulation, recirculation, and secretion of potassium ions. The aim of this study was to obtain more information on the localization and possible functional role of the inwardly rectifying K+ channel, Kir7.1.MethodsKir7.1 cDNA (1114 bp) was isolated from guinea pig kidney (gpKir7.1), and its tissue distribution was analyzed by reverse transcriptase-polymerase chain reaction (RT-PCR). In addition, a genomic DNA fragment (6153 bp) was isolated from a genomic library. cRNA was expressed in Xenopus laevis oocytes for functional studies. Immunohistochemistry and RT-PCR were used to localize Kir7.1 in guinea pig and human kidney.ResultsThe expression of gpKir7.1 in Xenopus laevis oocytes revealed inwardly rectifying K+ currents. The reversal potential was strongly dependent on the extracellular K+ concentration, shifting from -14 mV at 96 mmol/L K+ to -90 mV at 1 mmol/L K+. gpKir7.1 showed a low affinity for Ba2+. Significant expression of gpKir7.1 was found in brain, kidney, and lung, but not in heart, skeletal muscle, liver, or spleen. Immunocytochemical detection in guinea pig identified the gpKir7.1 protein in the basolateral membrane of epithelial cells of the proximal tubule. RT-PCR analysis identified strong gpKir7.1 expression in the proximal tubule and weak expression in glomeruli and thick ascending limb. In isolated human tubule fragments, RT-PCR showed expression in proximal tubule and thick ascending limb.ConclusionOur results suggest that Kir7.1 may contribute to basolateral K+ recycling in the proximal tubule and in the thick ascending limb

Life within a limited radius: Investigating activity space in women with a history of child abuse using global positioning system tracking

Early experiences of childhood sexual or physical abuse are often associated with functional impairments, reduced well-being and interpersonal problems in adulthood. Prior studies have addressed whether the traumatic experience itself or adult psychopathology is linked to these limitations. To approach this question, individuals with posttraumatic stress disorder (PTSD) and healthy individuals with and without a history of child abuse were investigated. We used global positioning system (GPS) tracking to study temporal and spatial limitations in the participants’ real-life activity space over the course of one week. The sample consisted of 228 female participants: 150 women with PTSD and emotional instability with a history of child abuse, 35 mentally healthy women with a history of child abuse (healthy trauma controls, HTC) and 43 mentally healthy women without any traumatic experiences in their past (healthy controls, HC). Both traumatized groups—i.e. the PTSD and the HTC group—had smaller movement radii than the HC group on the weekends, but neither spent significantly less time away from home than HC. Some differences between PTSD and HC in movement radius seem to be related to correlates of PTSD psychopathology, like depression and physical health. Yet group differences between HTC and HC in movement radius remained even when contextual and individual health variables were included in the model, indicating specific effects of traumatic experiences on activity space. Experiences of child abuse could limit activity space later in life, regardless of whether PTSD develops.Peer Reviewe

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. Objective: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. Methods and Results: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10-10, OR=0.69 per C allele). SNP-based heritability analysis showed that 25% of variance in susceptibility to D-TGA may be explained by common variants. A genome-wide polygenic risk score derived from the discovery set was significantly associated to D-TGA in the replication set (P=4x10-5). The genome-wide significant locus (3p14.3) co-localizes with a putative regulatory element that interacts with the promoter of WNT5A, which encodes the Wnt Family Member 5A protein known for its role in cardiac development in mice. We show that this element drives reporter gene activity in the developing heart of mice and zebrafish and is bound by the developmental transcription factor TBX20. We further demonstrate that TBX20 attenuates Wnt5a expression levels in the developing mouse heart. Conclusions: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 near WNT5A. Genomic and functional data support a causal role of WNT5A at the locus

Abelhas-sem-ferrão amazônicas defendem meliponários contra saques de outras abelhas

Entre as abelhas eussociais, dois gêneros apresentam estratégia de vida cleptobiótica, obtendo recursos alimentares de ninhos de outras abelhas ao invés de coletá-los em flores. Entre as espécies atacadas existe um gradiente de suscetibilidade ao roubo variando desde espécies vulneráveis até altamente resistentes. Neste trabalho nós descrevemos um ataque de Lestrimelitta rufipes a um ninho de Scaptotrigona sp. em um meliponário na Amazônia central (Amazonas, Brazil). O ninho atacado foi transferido para um meliponário com espécies resistentes (Duckeola ghilianii e Melipona fulva) e as interações foram descritas. As abelhas resistentes contra-atacaram e afugentaram as ladras protegendo o ninho de Scaptotrigona sp.. A presença de comportamento defensivo em gêneros não proximamente relacionados sugere que ele tenha evoluído mais de uma vez entre os Meliponini. Considerando o comportamento descrito, sugerimos a criação de espécies nativas resistentes em meliponários de regiões onde elas forem nativas, devido ao potencial que elas tem na proteção

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10-10, OR=0.69 per C allele). SNP-based heritability analysis showed that 25% of variance in susceptibility to D-TGA may be explained by common variants. A genome-wide polygenic risk score derived from the discovery set was significantly associated to D-TGA in the replication set (P=4x10-5). The genome-wide significant locus (3p14.3) co-localizes with a putative regulatory element that interacts with the promoter of WNT5A, which encodes the Wnt Family Member 5A protein known for its role in cardiac development in mice. We show that this element drives reporter gene activity in the developing heart of mice and zebrafish and is bound by the developmental transcription factor TBX20. We further demonstrate that TBX20 attenuates Wnt5a expression levels in the developing mouse heart. CONCLUSIONS: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 near WNT5A. Genomic and functional data support a causal role of WNT5A at the locus

Endophytic fungi from the roots of horseradish (Armoracia rusticana) and their interactions with the defensive metabolites of the glucosinolate myrosinase – isothiocyanate system

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Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10 CONCLUSIONS: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 nea

Anaphylaxis in Elderly Patients-Data From the European Anaphylaxis Registry

Background: Elicitors and symptoms of anaphylaxis are age dependent. However, little is known about typical features of anaphylaxis in patients aged 65 years or more. Methods: The data from the Network for Online Registration of Anaphylaxis (NORA) considering patients aged ≥65 (elderly) in comparison to data from adults (18–64 years) regarding elicitors, symptoms, comorbidities, and treatment measures were analyzed. Results: We identified 1,123 elderly anaphylactic patients. Insect venoms were the most frequent elicitor in this group (p < 0.001), followed by drugs like analgesics and antibiotics. Food allergens elicited less frequently anaphylaxis (p < 0.001). Skin symptoms occurred less frequently in elderly patients (77%, p < 0.001). The clinical symptoms were more severe in the elderly (51% experiencing grade III/IV reactions), in particular when skin symptoms (p < 0.001) were absent. Most strikingly, a loss of consciousness (33%, p < 0.001) and preexisting cardiovascular comorbidity (59%, p < 0.001) were more prevalent in the elderly. Finally, adrenaline was used in 30% of the elderly (vs. 26% in the comparator group, p < 0.001) and hospitalization was more often required (60 vs. 50%, p < 0.001). Discussion and Conclusion: Anaphylaxis in the elderly is often caused by insect venoms and drugs. These patients suffer more often from cardiovascular symptoms, receive more frequently adrenaline and require more often hospitalization. The data indicate that anaphylaxis in the elderly tends to be more frequently life threatening and patients require intensified medical intervention. The data support the need to recognize anaphylaxis in this patient group, which is prone to be at a higher risk for a fatal outcome