klippel -trenaunay

BACKGROUND: Psychotic experiences (PEs) and social isolation (SI) seem related during early stages of psychosis, but the temporal dynamics between the two are not clear. Literature so far suggests a self-perpetuating cycle wherein momentary increases in PEs lead to social withdrawal, which, subsequently, triggers PEs at a next point in time, especially when SI is associated with increased distress. The current study investigated the daily-life temporal associations between SI and PEs, as well as the role of SI-related and general affective distress in individuals at clinical high risk (CHR) for psychosis...

Objective: To summarize the characteristics of multisystem deformities in patients with Klippel-Feil syndrome (KFS) combined with congenital scoliosis (CS). Methods: Within the framework of the "Deciphering Disorders Involving Scoliosis and Comorbidities (DISCO)" research collaboration, a retrospective analysis was conducted on patients diagnosed with KFS and CS at Peking Union Medical College Hospital between April 2005 and August 2022. Patient data, including imaging examinations and medical records, were collected to summarize the spinal and associated deformities...

Carnosine is composed of β-alanine and L-histidine and is considered to be an important neuroprotective agent with antioxidant, metal chelating, and antisenescence properties. However, children with serum carnosinase deficiency present increased circulating carnosine and severe neurological symptoms. We here investigated the in vitro effects of carnosine on redox and mitochondrial parameters in cultured cortical astrocytes from neonatal rats. Carnosine did not alter mitochondrial content or mitochondrial membrane potential...

BACKGROUND: Klippel-Feil syndrome is a rare condition described in 1912 by Maurice Klippel and André Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short neck, low posterior hairline, and limited range of movement. However, Klippel-Feil syndrome manifests with a vast spectrum of phenotypes, ranging from no symptoms to complete triad, with or without other associated malformations. Most commonly, CCF results from sporadic mutations, even though autosomal recessive, autosomal dominant, or even X-linked inheritance can be detected...

INTRODUCTION: Since the first description of os odontoideum in 1886, its origin has been debated. Numerous case series and reports show both a possible congenital origin and origin from the secondary to craniovertebral junction (CVJ) trauma. We conducted a detailed analysis of 260 surgically treated cases to document the initial symptoms, age groups, radiographic findings, and associated abnormalities, aiming to enhance the confirmation of the etiology. A literature search (1970-2022) was performed to correlate our findings...

Klippel-Feil syndrome-4 (KFS4), a rare autosomal recessive form of Klippel- Feil syndrome, is characterized by facial dysmorphism, nemaline myopathy, and short stature. Only 10 cases of KFS4 have been previously published in the literature. We report a novel case of a 1- month-old girl with known KFS4 and Robin Sequence (RS). At 2 months old, she underwent bilateral mandibular distraction osteogenesis to correct significant airway obstruction. Despite adequate mandibular advancement, the patient failed extubation twice and eventually required a tracheostomy...

Klippel-Feil syndrome (KFS) is a rare congenital cervical vertebrae fusion syndrome characterized by the clinical triad of low posterior hairline, limited head and neck range of motion, and short neck. The gene defects described with this syndrome are involved in the maturation and differentiation of bone during embryological development. As such, related defects seen in patients with KFS include genitourinary anomalies, cardiac defects, neurological abnormalities, and other musculoskeletal anomalies. Patients with this syndrome should be worked up for these related malformations, evaluated for risk of comorbidities, and educated on avoiding contact sports or activities that may put the cervical spine at risk for trauma...

The promise of immunotherapy to induce long-term durable responses in conventionally treatment resistant tumors like glioblastoma (GBM) has given hope for patients with a dismal prognosis. Yet, few patients have demonstrated a significant survival benefit despite multiple clinical trials designed to invigorate immune recognition and tumor eradication. Insights gathered over the last two decades have revealed numerous mechanisms by which glioma cells resist conventional therapy and evade immunological detection, underscoring the need for strategic combinatorial treatments as necessary to achieve appreciable therapeutic effects...

OBJECTIVE: To explore the clinical phenotype and genetic variant in a child with Verheij syndrome (VRJS). METHODS: A child who had presented at the Soochow University Affiliated Children's Hospital and Wujiang District Children's Hospital in July 2022 for "elevated scapula since early childhood" was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis...

The development of sustainable and environmentally friendly industrial processes is becoming very crucial and demanding for the rapid implementation of innovative bio-based technologies. Natural extreme environments harbor the potential for discovering and utilizing highly specific and efficient biocatalysts that are adapted to harsh conditions. This review focuses on extremophilic microorganisms and their enzymes (extremozymes) from various hot springs, shallow marine vents, and other geothermal habitats in Europe and the Caucasus region...

No abstract text is available yet for this article.

We report an exceedingly rare case of Klippel-Feil syndrome (KFS), compounded by ipsilateral absence of the vas deferens, renal agenesis, and diaphragmatic hernia. Unilateral absence of the vas deferens was found incidentally during orchidopexy. To the best of our knowledge, no case of unilateral absence of the kidney and vas deferens has been reported in children with KFS.

Patient-generated device data plays an important role in diabetes management. However, acquiring this data remains a challenge. This project aimed to understand whether implementing a dedicated "Technology Navigator" (TN) personnel at a large academic diabetes clinic could facilitate access to device data without increasing work for clinic staff. A sample of visits pre- and post-TN implementation (n=173) showed a 22% (41% vs 19%) increase in patients who successfully shared their data from home prior to their visit and a 52% (67% vs 15%) increase in visits where data was available to the provider for review prior to the appointment, while billing claims for CGM interpretation increased by 86% during the same period...

Protecting aquatic ecosystems requires comprehensive understanding and quantification of threats posed by invasive species to inform effective management strategy. In particular, aquatic invasive plants cause profound alterations to aquatic ecosystem composition, structure and productivity, however, monetary cost assessments have lacked at large scales. Here, for the first time, we synthesize the global economic impacts of aquatic and semi-aquatic invasive plants to describe the distributions of these costs across taxa, habitat types, environments, impacted sectors, cost typologies and geographic regions...

BACKGROUND: Chiari malformation type III (CM III), a rare hindbrain anomaly, often presents with various concurrent anomalies. This paper reports a unique case of CM III associated with Klippel-Feil syndrome (KFS), a condition previously unreported in Saudi Arabia and documented in only one other case globally in Turkey. This study aims to share insights into the unusual association between CM III and KFS, considering their close embryological development and involvement in the craniocervical junction...

A crucial step for validating the utility of an immersive virtual reality (iVR) buffet to study eating behavior is to determine whether variations in food characteristics such as portion size (PS) are relevant predictors of food selection in an iVR buffet. We tested whether manipulating PS in an iVR buffet affects the weight of food selected, and whether this response to PS is similar to participants' measured intake when PS varies at laboratory meals. In a randomized crossover design, 91 adults (18-71 y; 64 females; BMI = 25...

In photoacoustic computed tomography (PACT) with short-pulsed laser excitation, wideband acoustic signals are generated in biological tissues with frequencies related to the effective shapes and sizes of the optically absorbing targets. Low-frequency photoacoustic signal components correspond to slowly varying spatial features and are often omitted during imaging due to the limited detection bandwidth of the ultrasound transducer, or during image reconstruction as undesired background that degrades image contrast...

BACKGROUND: Little is known about whether and how contextual appraisals relate to emotion regulation (ER) strategy use across the ultra-high risk and first episode stages of psychosis. The present study extends previous research by investigating the extent to which different appraisal dimensions of the most negative and positive events of the day are associated with ER strategy use in individuals with ultra-high risk (UHR) and first-episode psychosis (FEP). METHOD: Sixty-eight UHR individuals and fifty-five FEP individuals filled out an experience sampling evening questionnaire for six consecutive days, in which their appraisal of intensity, importance and perceived control concerning the most negative or positive event of the day, and the ER strategies they deploy in response to these events were measured...

BACKGROUND: There are some cases of Klippel-Feil syndrome with spinal cord injury in clinical work. However, there is no literature report on Brown-Sequard syndrome after trauma. We report a case of Brown-Sequard syndrome following minor trauma in a patient with KFS type III. Her Brown-Sequard syndrome is caused by Klippel-Feil syndrome. CASE PRESENTATION: We found a 38-year-old female patient with KFS in our clinical work. She was unconscious on the spot following a minor traumatic episode...

BACKGROUND: Klippel-Feil syndrome (KFS) occurs in 1/40,000 individuals and is characterized by cervical fusion. Thirty percent of patients with KFS present with Sprengel deformity, leading to orthopedic problems and limited shoulder abduction. No reports exist regarding anesthetic procedures for pediatric scapular osteotomies. CASE PRESENTATION: We report a case of a 4-year-and-7-month-old boy (95.6 cm, 14.7 kg) who underwent left scapular osteotomy. At the age of 8 months, he also underwent a right lower lobectomy due to a congenital pulmonary airway malformation...