Publications by authors named "R H Hirtz"
Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome.
Orphanet J Rare Dis
November 2024
Background: Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in 26 BBS genes. It affects multiple organs, including the kidney and liver, with varying degrees regarding extent and time of first manifestation. Structural renal anomalies are an early feature and end-stage kidney disease (ESKD) cumulates to 25% in adulthood.
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- * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
- * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
Article Synopsis
- * Using Mendelian randomization, researchers analyzed data from the UK Biobank involving nearly 400,000 participants and found no significant association between testosterone levels and ADHD risk in sex-specific analyses.
- * In a combined analysis, there was a weak association between testosterone and ADHD, but further corrections indicated that this link could be influenced by other factors like body mass index (BMI), leading to the conclusion that there is no strong evidence supporting testosterone as a causal factor for ADHD risk.
Context: Reliable reference values for thyroid ultrasound measurements are essential to effectively guide individual diagnostics and direct population-level health care measures, such as iodine fortification programs. However, the latest reference values for total thyroid volume (Tvol) provided by the World Health Organization (WHO) in 2004 only apply to the 6- to 12-year-old age group and are limited to countries with a long history of iodine sufficiency, which does not reflect the situation in most European countries, including Germany.
Objective: This study aims to derive up-to-date thyroid volume ultrasound reference values in German children and adolescents.
Background: In males, the relationship between pubertal timing and depression is understudied and less consistent than in females, likely for reasons of unmeasured confounding. To clarify this relationship, a combined epidemiological and genetic approach was chosen to exploit the methodological advantages of both approaches.
Methods: Data from 2026 males from a nationwide, representative study were used to investigate the non-/linear relationship between pubertal timing defined by the age at voice break and depression, considering a multitude of potential confounders and their interactions with pubertal timing.