Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.

Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.

Growth modeling of the European grayling (Thymallus thymallus L.) in a large alpine river based on age-at-length, mark-recapture, and length-frequency data.

Animal growth is a fundamental component of population dynamics, which is closely tied to mortality, fecundity, and maturation. As a result, estimating growth often serves as the basis of population assessments. In fish, analysing growth typically involves fitting a growth model to age-at-length data derived from counting growth rings in calcified structures.

Gemcitabine and docetaxel for high-risk non-muscle-invasive bladder cancer: EuroGemDoce group results.

Objective: To evaluate the oncological efficacy and safety of sequential intravesical gemcitabine/docetaxel (Gem/Doce) therapy in a European cohort of patients with high-risk and very-high-risk non-muscle-invasive bladder cancer (NMIBC) after previous Bacillus Calmette-Guérin (BCG) treatment.

Materials And Methods: Data were retrospectively collected from 95 patients with NMIBC, treated with Gem/Doce at 12 European centres between 2021 and 2024. Patients previously treated with BCG who had completed a full induction course and received at least one follow-up evaluation were included.

Prospective Multicenter Evaluation of the MDS "Suggestive of PSP" Diagnostic Criteria.

Background: The recent Movement Disorders Society (MDS)-progressive supranuclear palsy (PSP) diagnostic criteria conceptualized three clinical diagnostic certainty levels: "suggestive of PSP" for sensitive early diagnosis based on subtle clinical signs, "possible PSP" balancing sensitivity and specificity, and "probable PSP" highly specific for PSP pathology.

Objective: The aim of this study was to prospectively validate the criteria against long-term clinical follow-up and characterize the diagnostic certainty increase over time.

Methods: Patients with "possible PSP" or "suggestive of PSP" diagnosis and clinical follow-up were recruited in two German multicenter longitudinal observational studies (ProPSP and DescribePSP).

Large Variations in Phenylalanine Concentrations Associate Adverse Cardiac Remodelling in Adult Patients With Phenylketonuria-A Long-Term CMR Study.

Background: Despite a phenylalanine (Phe) restrictive diet, most adult patients with 'classical' phenylketonuria (PKU) maintain life-long Phe concentrations above the normal range and receive tyrosine (Tyr) and protein-enriched diets to maintain acceptable concentrations and ensure normal development. While these interventions are highly successful in preventing adverse neuropsychiatric complications, their long- term consequences are incompletely explored. We observed early cardiomyopathic characteristics and associated hemodynamic changes in adult PKU patients and present here the results of a longitudinal evaluation of cardiac phenotype.

New Insights Into Hepatic Impairment (HI) Trials.

Hepatic impairment (HI) trials are traditionally part of the clinical pharmacology development to assess the need for dose adaptation in people with impaired metabolic capacity due to their diseased liver. This review aimed at looking into the data from dedicated HI studies, cluster these data into various categories and connect the effect by HI with reported pharmacokinetics (PK) properties in order to identify patterns that may allow waiver, extrapolations, or adapted HI study designs. Based on a ratio ≥ 2 or ≤ 0.

Self-Sustained Biophotocatalytic Nano-Organelle Reactors with Programmable DNA Switches for Combating Tumor Metastasis.

Metastasis, the leading cause of mortality in cancer patients, presents challenges for conventional photodynamic therapy (PDT) due to its reliance on localized light and oxygen application to tumors. To overcome these limitations, a self-sustained organelle-mimicking nanoreactor is developed here with programmable DNA switches that enables bio-chem-photocatalytic cascade-driven starvation-photodynamic synergistic therapy against tumor metastasis. Emulating the compartmentalization and positional assembly strategies found in living cells, this nano-organelle reactor allows quantitative co-compartmentalization of multiple functional modules for the designed self-illuminating chemiexcited PDT system.

A scoping review evaluating the current state of gut microbiota and its metabolites in valvular heart disease physiopathology.

Background: The human microbiome is crucial in regulating intestinal and systemic functions. While its role in cardiovascular disease is better understood, the link between intestinal microbiota and valvular heart diseases (VHD) remains largely unexplored.

Methods: Peer-reviewed studies on human, animal or cell models analysing gut microbiota profiles published up to April 2024 were included.

Polyproline-Polyornithine Diblock Copolymers with Inherent Mitochondria Tropism.

Mitochondria play critical roles in regulating cell fate, with dysfunction correlating with the development of multiple diseases, emphasizing the need for engineered nanomedicines that cross biological barriers. Said nanomedicines often target fluctuating mitochondrial properties and/or present inefficient/insufficient cytosolic delivery (resulting in poor overall activity), while many require complex synthetic procedures involving targeting residues (hindering clinical translation). The synthesis/characterization of polypeptide-based cell penetrating diblock copolymers of poly-L-ornithine (PLO) and polyproline (PLP) (PLO-PLP, n:m ratio 1:3) are described as mitochondria-targeting nanocarriers.

Socioeconomic Trends in Outcomes of Rehabilitation Among Patients With Systemic Connective Tissue Disorders in Germany: A Cross-Sectional Analysis of Routine Data.

Objective: Various demographic factors, including sex, socioeconomic status, and immigration status, have been linked to disparities in healthcare outcomes. Despite efforts by healthcare providers to address these inequities, interventions are not always effective. The present investigation provides empirical insights from Germany focusing on patients with systemic connective tissue disorders, highlighting the need for evaluated strategies to mitigate healthcare disparities.

Supine Traction vs Fulcrum Bending Radiographs in Preoperative Imaging of Scoliosis Patients Treated With Magnetically Controlled Growing Rods (MCGR) - which Technique is Better to Predict Surgical Correction of the Main Curve?

Study Design: Retrospective Cohort Study.

Objectives: Flexibility radiographs such as traction or bending radiographs are essential in preoperative imaging to assess for curve flexibility and to estimate the amount of operative correction in order to determine the type and length of instrumentation in growth-accompanying scoliosis treatment. Both traction and bending radiographs are controversially discussed in the literature.

Effect of Immunoadsorption on clinical presentation and immune alterations in COVID-19-induced and/or aggravated ME/CFS.

Autoreactive antibodies (AAB) are currently being investigated as causative or aggravating factors during post-COVID. In this study we analyze the effect of immunoadsorption therapy on symptom improvement and the relationship with immunological parameters in post-COVID patients exhibiting symptoms of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) induced or aggravated by an SARS-CoV-2 infection. This observational study includes 12 post-COVID patients exhibiting a predominance of ME/CFS symptoms alongside increased concentrations of autonomic nervous system receptors (ANSR) autoantibodies and neurological impairments.

Impact of Vision Defects on Tooth Shade Selection: A Comparative of Spectrophotometry and Shade Guides in a Cross-Sectional Clinical Study.

Tooth shade selection is a fundamental factor in the success of dental restorations, and visual impairment may adversely affect this process. The aim of this cross-sectional clinical study was to determine whether visual impairment influences shade selection using two methods: spectrophotometry and shade guides. : The sample consisted of 2796 maxillary and mandibular teeth, and shade selection was measured subjectively with a shade guide (VITA Classic, VITA Zahnfabrik) and objectively with a spectrophotometer (VITA Easyshade V, VITA Zahnfabrik, Bad Säckingen, Germany).

Macular Pigment Changes and Visual Recovery Following Successful Full-Thickness Macular Hole Closure Using the Inverted Flap Technique.

: This study aimed to assess the role of macular pigment optical density (MPOD) in patients with a full-thickness macular hole (FTMH) compared to healthy controls, evaluating postoperative changes in MPOD and exploring potential correlations with visual outcomes. : This prospective, cross-sectional, comparative study included 16 eyes from FTMH patients who achieved anatomical hole closure following pars plana vitrectomy with the inverted ILM flap technique. Each eye underwent a comprehensive ophthalmologic examination, including BCVA and intraocular pressure measurements, anterior segment evaluation, fundus examination, and macular assessment with Enhanced Depth Imaging Optical Coherence Tomography (EDI-OCT, Spectralis, Heidelberg Engineering Inc.

Comparative Analysis of Liposuction and Conservative Treatment in Lipedema Patients: A Modified Body-Q Questionnaire Study.

: Despite its estimated high prevalence among women and increasing awareness, lipedema remains under-investigated. Ignoring its debilitating nature, surgical treatment for this condition is frequently covered by health insurance only in advanced stages and after the exhaustion of conservative therapies. : A total of 1015 patients with lipedema were recruited via social media platforms.

Clinical and Topographic Screening for Scoliosis in Children Participating in Routine Sports: A Prevalence and Accuracy Study in a Spanish Population.

: Idiopathic scoliosis (IS) is a common spinal deformity affecting 0.5% to 5.2% of children worldwide, with a higher reported range in Spain (0.

Risk Factors and Impact of Intra-Articular Scarring After Open Reduction and Internal Fixation in Mandibular Condylar Head Fractures-A Prospective Analysis.

During the routine removal of osteosynthesis materials after surgical treatment (ORIF) of condylar head fractures (CHFs), as performed at our clinic, localised and sometimes pronounced intra-articular scarring were observed quite regularly. This prospective study therefore investigates the causes of intra-articular scarring and its impact on functionality after surgical treatment (ORIF) of condylar head fractures (CHFs). Moreover, 80/98 patients with 96/114 CHFs (ORIF between 2014 and 2024) were evaluated when performing hardware removal.

The Evidence-Based Medicine Management of Endometriosis Should Be Updated for the Limitations of Trial Evidence, the Multivariability of Decisions, Collective Experience, Heuristics, and Bayesian Thinking.

: The diagnosis and treatment of endometriosis should be based on the best available evidence. Emphasising the risk of bias, the pyramid of evidence has the double-blind, randomised controlled trial and its meta-analyses on top. After the grading of all evidence by a group of experts, clinical guidelines are formulated using well-defined rules.

Long-Term Outcomes of Endovascular Aortic Repair with Parallel Chimney or Periscope Stent Grafts for Ruptured Complex Abdominal Aortic Aneurysms.

: The parallel stent graft endovascular aortic repair (PGEVAR) technique is an off-the-shelf option used for elective complex abdominal aortic aneurysm repair with acceptable outcome results, as reported so far. The PGEVAR technique, using chimney or periscope parallel grafts, can also be used for patients with ruptured complex abdominal aortic aneurysms. However, only few data about the mid- to long-term outcomes are available.

Feasibility Testing of the Automatic Design of Three-Unit Implant Fixed Dental Prostheses with Different Dental CAD Software: A Pre-Clinical Pilot Trial.

The technical development of implant-supported fixed dental prostheses (iFDP) initially concentrated on the computer-aided manufacturing of prosthetic restorations (CAM). Advances in information technologies have shifted the focus for optimizing digital workflows to AI-based processes for design (CAD). This pre-clinical pilot trial investigated the feasibility of the automatic design of three-unit iFDPs using CAD software (Dental Manger 2021, 3Shape; DentalCAD 3.

Sex-Based Differences and Outcomes in Unselected Patients Undergoing Coronary Angiography.

: The study investigates sex-related differences and outcomes in unselected patients undergoing invasive coronary angiography (CA). Sex-based differences with regard to baseline characteristics and management of patients with cardiovascular disease have yet been demonstrated. However, their impact on long-term outcomes in unselected patients undergoing CA remains unknown.

Reply to Pennington, T.E.; Thompson, J.F. Sentinel Node Biopsy in Melanoma Remains a Valuable Clinical Tool. Comment on "Dixon et al. Primary Cutaneous Melanoma-Management in 2024. 2024, , 1607".

We note with interest the commentary by Pennington and Thompson (P&T) regarding our detailed update on the management of primary cutaneous melanoma in 2024 [...

The Spine Lengthens During Walking in Healthy Participants, with Age-Related Changes in Kinematic Parameters.

While the importance of the upper and lower limbs in locomotion is well understood, the kinematics of the trunk during walking remains largely unexplored. Two decades ago, a casual observation was reported indicating spine lengthening in a small sample of mostly children during walking, but this observation was never replicated. Objectives: This study aims to verify the preliminary observation that spine lengthening occurs during walking and to explore changes in spine kinematics across three different age groups.