Publications by authors named "Mink J"

Approximately 20%-40% of individuals with Tourette syndrome (TS) have rage attacks (RAs), which are recurrent, explosive behavioral outbursts that can cause significant functional impairment. Despite the impact of RA in TS, there has been limited research on treatment, and most studies have focused on pharmacologic interventions. Nonpharmacologic interventions have the potential to improve symptoms with fewer side effects.

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Penile carcinoma exhibits significant geographic variation in incidence, ranking 30th globally among newly diagnosed cancers with an annual rate of 0.84 cases per 100,000 men. Particularly high incidence rates of up to 2.

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Background: Accurate classification is essential for addressing childhood movement disorders (MD), but the common coexistence of multiple MDs complicates this process.

Objective: The aim was to assess inter-rater agreement on classifying hyperkinetic MDs among pediatric neurologists with expertise in MDs.

Methods: Five pediatric neurologists were requested to examine 112 videos of 66 pediatric patients.

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Article Synopsis
  • Tourette syndrome (TS) is characterized by multiple motor tics and phonic tics lasting over a year, with some youth experiencing coprophenomena (obscene tics) and more psychiatric issues compared to those without it.
  • This study assessed the relationship between tic severity, co-occurring conditions, and the impact on individual and family functioning in youth with TS, focusing on those with and without coprophenomena.
  • Results indicated that youth with TS and coprophenomena had significantly higher tic severity and lower scores in global function, family functioning, and parent quality of life compared to those without coprophenomena.
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PeCa is a rare entity with rising incidence rates due to increased infections with human papillomaviruses (HPV). The distinct subtypes of PeCa with an individual pathogenesis demand biomarkers for a precise patient risk assessment regarding disease progression and therapeutic susceptibility. We recently identified promising candidates associated with an HPV-instructed tumor microenvironment (TME) using HPV-positive PeCa cell lines and tissue microarrays (TMA).

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Tourette disorder (TD) is a neurodevelopmental disorder characterized by childhood onset of tics lasting more than one year, with multiple motor tics and at least one phonic tic at some point during the course of the symptoms. Treatment of tics may include psychoeducation, non-pharmacologic treatment, or pharmacologic treatment. We review pharmacologic treatment here.

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Article Synopsis
  • The study investigates gender representation in leadership positions and award recipients within the Child Neurology Society (CNS) over a 50-year period, from 1972 to 2023.
  • Despite women making up the majority of child neurology trainees since 2007, they hold only 29% of board positions and 26% of post-training awards, indicating a persistent gender gap.
  • While the number of women in nonpresidential roles has increased, only 13% of CNS presidents have been women, highlighting significant underrepresentation in top leadership positions.
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Medical education is experiencing a paradigm shift towards more interactive and collaborative pedagogical approaches. Barcamps, also known as unconferences, offer an interactive, participant-driven learning approach. This study aims to evaluate the feasibility of using barcamps as an educational model in medical education.

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Youth with intellectual and developmental disabilities typically have higher rates of tics and stereotypies compared to children with otherwise typical development. Differentiating between these two pediatric movement disorders can be challenging due to overlapping clinical features, but is relevant due to distinct treatment modalities. The current study evaluated sensitivity and specificity of a tic screening measure, the Motor or Vocal Inventory of Tics (MOVeIT) in a pediatric sample enriched for stereotypy and tics.

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Objectives: Neuronal ceroid lipofuscinosis type 2 (CLN2-disease) is an inherited childhood-onset neurodegenerative condition, with classical early features of speech delay, epilepsy, myoclonus, ataxia, and motor regression. This study aimed to better characterize the spectrum of movement disorders in CLN2-disease in a cohort of children receiving enzyme replacement therapy (ERT).

Methods: A cohort of 18 children attending a single center for treatment with cerliponase alfa ERT was systematically assessed using a standardized structured history and a double-scored, video-recorded examination using the Unified Batten Disease Rating Scale (UBDRS) and Abnormal Involuntary Movement Scale.

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Introduction: Persistent Tic Disorders such as Tourette Syndrome are common neurodevelopmental disorders that are highly stigmatized. Many individuals with Persistent Tic Disorders experience peer rejection, loneliness, and self-stigma. Experiencing stigmatization during childhood can influence the persistence of moderate-to-severe tics later in life.

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Background: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population.

Methods: A retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022.

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Dystonia, typically characterized by slow repetitive involuntary movements, stiff abnormal postures, and hypertonia, is common among individuals with cerebral palsy (CP). Dystonia can interfere with activities and have considerable impact on motor function, pain/comfort, and ease of caregiving. Although pharmacological and neurosurgical approaches are used clinically in individuals with CP and dystonia that is causing interference, evidence to support these options is limited.

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Objective: To determine how physicians approach pharmacologic dystonia treatment in people with CP and assess physician readiness to participate in a randomized trial comparing existing pharmacologic dystonia treatments.

Methods: We administered a REDCap survey to physician members of the American Academy of Cerebral Palsy and Developmental Medicine and of the Child Neurology Society to assess which pharmacologic agents they use to treat dystonia in CP and their preferred indications and dosing.

Results: Of 479 physicians surveyed, 240 (50%) responded.

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Poorly selective mixed-metal cluster synthesis and separation yield reaction solutions of inseparable intermetalloid cluster mixtures, which are often discarded. High-resolution mass spectrometry, however, can provide precise compositional data of such product mixtures. Structure assignments can be achieved by advanced computational screening and consideration of the complete structural space.

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Background: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials.

Methods: We employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace.

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Persistent tic disorders (PTD) such as Tourette's syndrome (TS) are common childhood-onset neurodevelopmental disorders. Stigmatization of individuals with these disorders remains an ongoing problem. The purpose of this scoping review is to serve as an updated review of the research regarding stigmatization in youth with PTD since the publication of the original systematic review about this topic in 2016.

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Background: Advanced penile carcinoma is characterized by poor prognosis. Most data on prognostic factors are based on small study cohorts, and even meta-analyses are limited in patient numbers. Therefore, there is still a lack of evidence for clinical decisions.

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Introduction: Interprofessional training wards (IPTW) aim to improve undergraduates' interprofessional collaborative practice of care. Little is known about the effects of the different team tasks on IPTW as measured by external assessment. In Heidelberg, Germany, four nursing and four medical undergraduates (= one cohort) care for up to six patients undergoing general surgery during a four-week placement.

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Background: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing, a critical cue in speech perception. Given decrements in speech and language skills associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials.

Methods: We employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace.

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Background: Penile cancer is a rare but often lethal tumour disease, especially in the metastatic stage. Most data on prognostic factors for penile cancer are based on small patient cohorts, and even meta-analyses are mostly limited in terms of patient numbers. There is a lack of sufficient parameters to predict the metastatic risk of these tumours.

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Tics are unwanted, repetitive movements and sounds that frequently present during childhood. They are typically brief and purposeless, but can create significant distress for individuals, and often co-occur with other neuropsychiatric conditions. Thus, early identification of tics is warranted.

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Background: Tourette syndrome (TS) is associated with learning disabilities and educational impairment. Teacher knowledge about TS may have a positive impact on students with TS, but factors associated with teacher knowledge of TS are not known.

Methods: In this cross-sectional study, teachers of youth with TS and of a community control group completed a Teacher Understanding of Tourette Syndrome Survey (TUTS), a pilot questionnaire enquiring about self-perceived understanding, teacher knowledge, and sources of information.

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