We report on 2 sibs with cardiac and renal abnormalities. The first had hypoplastic left heart sequence and renal hypoplasia; the second had a complex congenital heart defect, renal agenesis, and cleft lip and palate. We suggest that these cases represent the first familial examples of the Holzgreve syndrome. As such, they demonstrate the phenotypic variability seen in sibs, and may serve to further delineate the syndrome.
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http://dx.doi.org/10.1002/ajmg.1320450621 | DOI Listing |
Nat Cancer
August 2024
Department of Medicine I, Medical Centre, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Cancer immunotherapy with chimeric antigen receptor (CAR) T cells can cause immune effector cell-associated neurotoxicity syndrome (ICANS). However, the molecular mechanisms leading to ICANS are not well understood. Here we examined the role of microglia using mouse models and cohorts of individuals with ICANS.
View Article and Find Full Text PDFJ Occup Med Toxicol
February 2024
Institute of Occupational Medicine, Social Medicine and Environmental Medicine, Goethe University Frankfurt, Theodor-Stern-Kai 7, Building 9a, 60596, Frankfurt am Main, Germany.
Background: Work-related forced postures, such as prolonged standing work, can lead to complaints in the lower back. Current research suggests that there is increased evidence of associations between patients with low back pain (LBP) and reduced lordosis in the lumbar spine and generally less spinal tilt in the sagittal plane. The aim of this study is to extend the influence of LBP to other parameters of upper body posture in standing, taking into account the rotational and frontal planes.
View Article and Find Full Text PDFClin Nucl Med
October 2023
From the Departments of Nuclear Medicine.
A 77-year-old man presented with progressive deterioration of physical capacity after successful percutaneous coronary intervention of known chronic coronary syndrome. Transthoracic echocardiography revealed hypertrophy of the left ventricle, and electrocardiogram showed low QRS voltage in all leads. 99m Tc-DPD scintigraphy was conducted to differentiate etiology such as amyloidosis and revealed increased cardiac tracer uptake in the left (grade 3) and right ventricle.
View Article and Find Full Text PDFBy implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS.
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