We present a case of a 76-year-old man with right upper quadrant abdominal pain and weight loss,who was found to have an intraductal papillary neoplasm of the bile duct(IPNB)of the pancreaticobiliary ...subtype,deemed curatively resectable.The patient declined surgery and opted for endoscopic therapy.He underwent two sessions of endoscopic retrograde cholangiopancreatography(ERCP)-guided radiofrequency ablation(RFA).Ten months later,no evidence of recurrence was identified on repeat ERCP.To our knowledge,this is the first reported case of successful use of RFA as a primary treatment modality for resectable IPNB.
Spinocerebellar ataxia type 7 is a neurodegenerative polyglutamine disease characterized by ataxia and retinal degeneration. The longitudinal course is unknown, and relationships between repeat ...expansion, clinical manifestations, and neuropathology remain uncertain. We followed 16 affected individuals of a 61-member kindred over 27 years with electroretinograms, neurological examinations including the Brief Ataxia Rating Scale, neuroimaging in five, and autopsy in four cases. We identified four stages of the illness: Stage 0, gene-positive but phenotypically silent; Stage 1, no symptoms, but hyperreflexia and/or abnormal electroretinograms; Stage 2, symptoms and signs progress modestly; and Stage 3, rapid clinical progression. CAG repeat length correlated inversely with age of onset of visual or motor signs (
r
= −0.74,
p
= 0.002). Stage 3 rate of progression did not differ between cases (
p
= 0.18). Electroretinograms correlated with Brief Ataxia Rating Scale score and were a biomarker of disease onset and progression. All symptomatic patients developed gait ataxia, extremity dysmetria, dysarthria, dysrhythmia, and oculomotor abnormalities. Funduscopy revealed pale optic discs and pigmentary disturbances. Visual acuity declined to blindness in those with longer CAG expansions. Hyperreflexia was present from Stage 1 onwards. Restless legs syndrome and sensory impairment were common. Neuropathological hallmarks were neuronal loss in cerebellar cortex, deep cerebellar nuclei, inferior olive, and anterior horns of the spinal cord, and axonal loss in spinocerebellar tracts, dorsal nerve roots, and posterior columns. Retinal pathology included photoreceptor degeneration and disruption of retinal pigment epithelium. Spinocerebellar ataxia type 7 evolves through four clinical stages; neuropathological findings underlie the clinical presentation; electroretinograms are a potential biomarker of disease progression.
Seeing Signs HORTON, LAURA
Sign language studies,
07/2020, Letnik:
20, Številka:
4
Journal Article
Recenzirano
In Nebaj, Guatemala, deaf residents are born into a community with no established sign language and little contact with the national sign language of Guatemala, Guatemalan Sign Language (GSM). In ...spite of this, deaf individuals interact with hearing and deaf relatives, friends, and neighbors using their hands. They incorporate both recognizable gestural emblems, used throughout the hearing community, and iconic and deictic signs to engage with others in their communicative ecology. In this article, I explore how Lucia, a deaf woman from Nebaj, mobilizes a genre of interaction, which I refer to as price-checking, to facilitate her conversation with a hearing interlocutor. Both deaf and hearing residents of Nebaj share social and embodied experiences, even in the absence of shared linguistic codes. I argue that familiar, recognizable scripts or genres offer a pathway to mutual comprehension as intelligible interlocutors.
Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these ...diseases are difficult to diagnose. We have developed a targeted exome sequencing approach to improve our ability to properly diagnose mitochondrial diseases and apply it here to an individual patient. Our method targets mitochondrial DNA (mtDNA) and the exons of 1,600 nuclear genes involved in mitochondrial biology or Mendelian disorders with multi-system phenotypes, thereby allowing for simultaneous evaluation of multiple disease loci.
Targeted exome sequencing was performed on a patient initially suspected to have a mitochondrial disorder. The patient presented with diabetes mellitus, diffuse brain atrophy, autonomic neuropathy, optic nerve atrophy, and a severe amnestic syndrome. Further work-up revealed multiple heteroplasmic mtDNA deletions as well as profound thiamine deficiency without a clear nutritional cause. Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome.
This case demonstrates how clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders. Furthermore, the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology and thiamine metabolism that has implications for the clinical management of Wolfram syndrome patients.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Tablet computer-based screening may have the potential for detecting patients at risk for opioid abuse in the emergency department (ED). Study objectives were a) to determine if the revised Screener ...and Opioid Assessment for Patients with Pain (SOAPP®-R), a 24-question previously paper-based screening tool for opioid abuse potential, could be administered on a tablet computer to an ED patient population; b) to demonstrate that >90% of patients can complete the electronic screener without assistance in <5 minutes and; c) to determine patient ease of use with screening on a tablet computer.
This was a cross-sectional convenience sample study of patients seen in an urban academic ED. SOAPP®-R was programmed on a tablet computer by study investigators. Inclusion criteria were patients ages ≥18 years who were being considered for discharge with a prescription for an opioid analgesic. Exclusion criteria included inability to understand English or physical disability preventing use of the tablet.
93 patients were approached for inclusion and 82 (88%) provided consent. Fifty-two percent (n=43) of subjects were male; 46% (n=38) of subjects were between 18-35 years, and 54% (n=44) were >35 years. One hundred percent of subjects completed the screener. Median time to completion was 148 (interquartile range 117.5-184.3) seconds, and 95% (n=78) completed in <5 minutes. 93% (n=76) rated ease of completion as very easy.
It is feasible to administer a screening tool to a cohort of ED patients on a tablet computer. The screener administration time is minimal and patient ease of use with this modality is high.
The series is dedicated to the comparative study of sign languages around the world. Individual or collective works that systematically explore typological variation across sign languages are the ...focus of this series, with particular emphasis on undocumented, underdescribed and endangered sign languages. The scope of the series primarily includes cross-linguistic studies of grammatical domains across a larger or smaller sample of sign languages, but also encompasses the study of individual sign languages from a typological perspective and comparison between signed and spoken languages in terms of language modality, as well as theoretical and methodological contributions to sign language typology.
In this article, we describe how the funds of knowledge in a community in rural Northern Canada were actualized or leveraged in an early childhood classroom. We draw on a video recording of a First ...Nations elder demonstrating to the children (and early childhood educators) how to skin a marten, a historical cultural practice of the community. We argue that elders are an untapped source of knowledge that preschools and schools can call on to legitimize and bring to the forefront, Indigenous knowledge that has been ignored or undervalued by assimilationist and colonialist policies. We also argue that the elder’s demonstration is culturally congruent with First Nations traditions of sharing or passing on knowledge and that it is imperative that educators are aware of and implement culturally appropriate pedagogical practices. We conclude by sharing some ideas of how early childhood educators might facilitate through play, children’s taking up and appropriating cultural knowledge such as the elder shared in this case.
The use of musculoskeletal ultrasound in rheumatology clinical practice has rapidly increased over the past decade. Ultrasound has enabled rheumatologists to diagnose, prognosticate and monitor ...disease outcome. Although international standardization remains a concern still, the use of ultrasound in rheumatology is expected to grow further as costs fall and the opportunity to train in the technique improves. We present a review of value of ultrasound, focusing on major applications of ultrasound in rheumatologic diseases.
Languages carve up conceptual space in varying ways—for example, English uses the verb cut both for cutting with a knife and for cutting with scissors, but other languages use distinct verbs for ...these events. We asked whether, despite this variability, there are universal constraints on how languages categorize events involving tools (e.g., knife-cutting). We analyzed descriptions of tool events from two groups: (a) 43 hearing adult speakers of English, Spanish, and Chinese and (b) 10 deaf child homesigners ages 3 to 11 (each of whom has created a gestural language without input from a conventional language model) in five different countries (Guatemala, Nicaragua, United States, Taiwan, Turkey). We found alignment across these two groups—events that elicited tool-prominent language among the spoken-language users also elicited tool-prominent language among the homesigners. These results suggest ways of conceptualizing tool events that are so prominent as to constitute a universal constraint on how events are categorized in language.
Objective
To investigate whether sonographically determined subclinical enthesopathy in patients with moderate‐to‐severe psoriasis regresses with the use of ustekinumab therapy for skin disease.
...Methods
Seventy‐three patients with moderate‐to‐severe psoriasis, who were not treated with systemic therapy and did not have symptoms of psoriatic arthritis (PsA), and 23 healthy volunteers were screened by ultrasound for subclinical enthesitis. Subsequently, 23 patients with psoriasis whose ultrasound results showed inflammatory changes were treated with ustekinumab for 52 weeks. The evolution of sonographic abnormalities of the upper and lower limb entheses was assessed using an extensive gray‐scale and power Doppler (PD) ultrasound protocol at weeks 0, 12, 24, and 52. For each parameter, a gray‐scale or PD ultrasound score of >0 was determined to be abnormal, and a summative score based on the Glasgow Ultrasound Enthesitis Scoring System was calculated.
Results
Of all the patients with psoriasis screened using ultrasound, 49.3% had at least 1 inflammatory entheseal abnormality. Mean ± SD inflammation scores were higher in the patients with psoriasis compared with the healthy volunteers (9.9 ± 6.6 versus 1.0 ± 1.4). With treatment, the mean inflammation scores decreased significantly by 42.2% from week 0 to week 24 (–4.2 95% confidence interval –6.3, –2.1; P < 0.001) and by 47.5% by week 42 (–4.7 95% confidence interval –7.1, –2.3; P = 0.001). Entheseal structural abnormalities did not change significantly during treatment.
Conclusion
Within 12 weeks of treatment, interleukin‐12 (IL‐12)/IL‐23 inhibition for psoriasis appears to suppress subclinical enthesopathy, and the suppression is maintained through week 52. Further longitudinal studies are needed to determine whether therapy initiated for skin disease may prevent the development of PsA.
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