First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.

Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in breakpoints and a complex clinical manifestation exist, with congenital heart defects being considered rare. We present the first case of hypoplastic left heart syndrome and minor dysmorphic features associated with 3p- syndrome.

Exploring the Activation of Atomically Precise [Pt(CO)(PPh)] Clusters: Mechanism and Energetics in Gas Phase and on an Inert Surface.

Atomically precise clusters such as [Pt(CO)(PPh)] ( = 1,2) (PPh is triphenylphosphine) are known as precursors for making oxidation catalysts. However, the changes occurring to the cluster upon thermal activation during the formation of the active catalyst are poorly understood. We have used a combination of hybrid mass spectrometry and surface science to map the thermal decomposition of [Pt(CO)(PPh)](NO).

What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication.

What is the definition of Syndrome? Since the beginning of studies in genetics, certain terminologies have been created and used to define groups of diseases or alterations. With the advancement of knowledge and the emergence of new technologies, the use of basic concepts is being done in a mistaken or often confusing way. Because of this, revisiting and readjusting the old terms becomes imminent.

Turner syndrome and neuropsychological abnormalities: a review and case series.

Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS).

Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases.

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.

Neural oscillations guiding action during effects imagery.

Goal-directed acting requires the integration of sensory information but can also be performed without direct sensory input. Examples of this can be found in sports and can be conceptualized by feedforward processes. There is, however, still a lack of understanding of the temporal neural dynamics and neuroanatomical structures involved in such processes.

The "fascia taco" for nasal septum perforation closure-A retrospective Cohort study on success rates and patient reported outcomes.

Objective: Nasal septum perforation (NSP) is a common condition affecting ~1.2% of the general population and is still considered challenging to treat. Therapeutic strategies range from conservative local treatments and septal button closures to over 40 different surgical approaches.

The Virtual Child.

We are building the world's first Virtual Child-a computer model of normal and cancerous human development at the level of each individual cell. The Virtual Child will "develop cancer" that we will subject to unlimited virtual clinical trials that pinpoint, predict, and prioritize potential new treatments, bringing forward the day when no child dies of cancer, giving each one the opportunity to lead a full and healthy life.

[How much digitization do ENT curricula need? : Opportunities and limits from the perspective of students and teachers].

Background: Digitalization has long been an integral part of students' everyday lives and increasingly also of their medical training. It seems to be an unwritten law that "digital natives" want as much digitalization as possible. This study aims to shed more light on how students in the clinical phase of medical studies perceive the increasing digitalization of teaching and what they need for good education.

Radiological and laboratory prognostic parameters for gastric dilation in rabbits (Oryctolagus cuniculus).

Background: The aim of this study was to evaluate the radiographical and laboratory findings in pet rabbits with gastric dilation (GD) and identify prognostic parameters.

Methods: One hundred and fifty-five rabbits with GD were included for the radiographical analyses and 75 for the laboratory analyses. A vertebral stomach score (VSS) was established to determine the extension of the stomach on lateral radiographs.

Delineating mouse β-cell identity during lifetime and in diabetes with a single cell atlas.

Although multiple pancreatic islet single-cell RNA-sequencing (scRNA-seq) datasets have been generated, a consensus on pancreatic cell states in development, homeostasis and diabetes as well as the value of preclinical animal models is missing. Here, we present an scRNA-seq cross-condition mouse islet atlas (MIA), a curated resource for interactive exploration and computational querying. We integrate over 300,000 cells from nine scRNA-seq datasets consisting of 56 samples, varying in age, sex and diabetes models, including an autoimmune type 1 diabetes model (NOD), a glucotoxicity/lipotoxicity type 2 diabetes model (db/db) and a chemical streptozotocin β-cell ablation model.

Pre-clinical evaluation of APrevent® VOIS for unilateral vocal fold paralysis medialization.

Objective: To evaluate the concept and efficacy of an adjustable implant (Prototype SH30: porcine implant and APrevent® VOIS: human concept) for treatment of unilateral vocal fold paralysis (UVFP) via in vivo mini-pig studies, human computed tomographic (CT) and magnetic resonance (MR) image analysis, ex-vivo aerodynamic and acoustic analysis.

Methods: Feasibility testing and prototype implantation were performed using in-vivo UVFP porcine model ( = 8), followed by a dimensional finding study using CT and MR scans of larynges ( = 75) for modification of the implant prototypes. Acoustic and aerodynamic measurements were recorded on excised canine ( = 7) larynges with simulated UVFP before and after medialization with VOIS-Implant.

The neurophysiology of continuous action monitoring.

Monitoring actions is essential for goal-directed behavior. However, as opposed to short-lasting, and regularly reinstating monitoring functions, the neural processes underlying continuous action monitoring are poorly understood. We investigate this using a pursuit-tracking paradigm.

A dissociable functional relevance of theta- and beta-band activities during complex sensorimotor integration.

Sensorimotor integration processes play a central role in daily life and require that different sources of sensory information become integrated: i.e. the information related to the object being under control of the agent (i.

Impaired DNA double-strand break repair and effective radiosensitization of HPV-negative HNSCC cell lines through combined inhibition of PARP and Wee1.

Objectives: In head and neck squamous cell carcinoma (HNSCC), tumors negative for Human Papillomavirus (HPV) remain a difficult to treat entity and the morbidity of current multimodal treatment is high. Radiotherapy in combination with molecular targeting could represent suitable, less toxic treatment options especially for cisplatin ineligible patients. Therefore, we tested dual targeting of PARP and the intra-S/G2 checkpoint through Wee1 inhibition for its radiosensitizing capacity in radioresistant HPV-negative HNSCC cells.

Lipidome Analysis of Oropharyngeal Tumor Tissues Using Nanosecond Infrared Laser (NIRL) Tissue Sampling and Subsequent Mass Spectrometry.

Ultrashort pulse infrared lasers can simultaneously sample and homogenize biological tissue using desorption by impulsive vibrational excitation (DIVE). With growing attention on alterations in lipid metabolism in malignant disease, mass spectrometry (MS)-based lipidomic analysis has become an emerging topic in cancer research. In this pilot study, we investigated the feasibility of tissue sampling with a nanosecond infrared laser (NIRL) for the subsequent lipidomic analysis of oropharyngeal tissues, and its potential to discriminate oropharyngeal squamous cell carcinoma (OPSCC) from non-tumorous oropharyngeal tissue.

Outcomes following oropharyngeal squamous cell carcinoma resection and bilateral neck dissection with or without contralateral postoperative radiotherapy of the pathologically node-negative neck.

Purpose: There are no consensus guidelines regarding the postoperative treatment of the contralateral pathologically node-negative neck in oropharyngeal squamous cell carcinoma. This study aimed to determine if omission of postoperative irradiation of the contralateral pathologically node-negative neck affects oncological outcomes.

Methods: We retrospectively identified 84 patients with primary surgical treatment including bilateral neck dissection and postoperative (chemo-)radiotherapy (PO(C)RT).

An Accessory Muscle Originating From the Hyoid Bone and Inserting Into the Sternocleidomastoid Muscle.

Irregular bellies and insertions into neck muscles have been described in the literature. To the best of our knowledge, a right accessory muscle originating from the hyoid bone and inserting into the sternocleidomastoid muscle has not been reported to date. Here, we report the case of a 72-year-old male patient with an irregular muscle originating from the lesser horn of the hyoid bone and inserting into sternocleidomastoid muscle fibers.

Hereditary head and neck paraganglioma: from basics to practical consequences.

Purpose Of Review: This review summarizes practical recommendations for screening, work-up, and management of hereditary head and neck paragangliomas based on the growing molecular and empirical understanding of this disease.

Recent Findings: The proportion of hereditary cases among head and neck paragangliomas is significant (∼33 to 50%), and specific genetic alterations may increase the risk of malignancy. Genotyping should be performed for each case, and patients carrying a pathological mutation should be regularly screened for new tumors.

TRACK-a new algorithm and open-source tool for the analysis of pursuit-tracking sensorimotor integration processes.

In daily life, sensorimotor integration processes are fundamental for many cognitive operations. The pursuit-tracking paradigm is an ecological and valid paradigm to examine sensorimotor integration processes in a more complex environment than many established tasks that assess simple motor responses. However, the analysis of pursuit-tracking performance is complicated, and parameters quantified to examine performance are sometimes ambiguous regarding their interpretation.

Is Vestibular Neuropathy Rather a Neuritis?

Background/objectives Vestibular neuritis (VN) is one of the most common causes of peripheral vestibular neuropathy. The goal of this study is to investigate the possible infectious causes of VN in a large cohort of patients. Material and methods In total, 98 consecutive VN patients were enrolled in this retrospective study over a four-year period (04/2015-04/2019).

[Comments on the term "drainage"].

Background: Use of the term "drainage" is inconsistent in clinical practice and the existing literature.

Objective: The aim of this study was to clarify the meaning of the term and to raise awareness of its proper use.

Materials And Methods: A selective literature search was performed.

A transcriptional cross species map of pancreatic islet cells.

Objective: Pancreatic islets of Langerhans secrete hormones to regulate systemic glucose levels. Emerging evidence suggests that islet cells are functionally heterogeneous to allow a fine-tuned and efficient endocrine response to physiological changes. A precise description of the molecular basis of this heterogeneity, in particular linking animal models to human islets, is an important step towards identifying the factors critical for endocrine cell function in physiological and pathophysiological conditions.

Musical Activity During Life Is Associated With Multi-Domain Cognitive and Brain Benefits in Older Adults.

Regular musical activity as a complex multimodal lifestyle activity is proposed to be protective against age-related cognitive decline and Alzheimer's disease. This cross-sectional study investigated the association and interplay between musical instrument playing during life, multi-domain cognitive abilities and brain morphology in older adults (OA) from the DZNE-Longitudinal Cognitive Impairment and Dementia Study (DELCODE) study. Participants reporting having played a musical instrument across three life periods ( = 70) were compared to controls without a history of musical instrument playing ( = 70), well-matched for reserve proxies of education, intelligence, socioeconomic status and physical activity.