4 research outputs found
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis
No full textAbstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to describe the clinical phenotype and disturbance in VLCFA metabolism associated with variants in the ELOV1 gene. Methods The following methods were employed: Exome sequencing, clinical phenotyping, magnetic resonance imaging (MRI), metabolomics, liquid chromatography–tandem mass spectrometry, fatty acid elongation assay. Results We, here, describe seven patients with autosomal recessive variants in ELOVL1 . Common clinical features included ichthyosis (5/7), developmental delay (7/7), progressive spasticity (7/7), nystagmus (5/6), and a complex movement disorder characterized by pronounced head tremor (7/7), myoclonus (6/7), and dysarthria (6/6). Brain MRI revealed non‐progressive hypomyelination (6/6) and hypoplasia of the corpus callosum (5/6). Plasma VLCFA analysis in one patient showed reduced concentrations of C24:0 and C26:0. Biochemical analysis of fibroblasts from this patient revealed elongation defects in VLCFA synthesis and dysregulation of other ELOVL enzymes. Conclusions We show that biallelic variants in ELOVL1 are associated with a unique and recognizable phenotype of hypomyelinating leukodystrophy, ichthyosis, and a complex movement disorder including progressive spasticity, head tremor, and myoclonus. Biochemical analyses confirmed a defect in VLCFA synthesis. Variants in genes encoding enzymes involved in the elongation of VLCFAs are a novel group of metabolic disorders with overlapping symptoms. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
The Ministry of Utmost Happiness by Arundhati Roy: A Book Review
No full textArundhati Roy’s The Ministry of Utmost Happiness (2017) presents the story of a transgender woman, Anjum, who lives in a crumbling Delhi neighborhood. After a massacre in Gujarat, India’s current Prime Minister Narendra Modhi stands accused of complicity in the killings of Muslims in the same state in 2002, she flees to a cemetery and establishes a new life there full of colorful characters. Alongside this narrative is a wider perspective set in Kashmir. As she recently told the Guardian, these two sections become one book because, “geographically, Kashmir is riven through with borders, and everybody in the book has a border running through them,” she said. “So it’s a book about, how do you understand these borders?” Roy is scathing of India’s behavior in Kashmir, accusing the military of torture, extra-judicial killings and disappearances. Roy wants readers to understand that state-backed violence across India is central to economic benefits for the minority who have become enriched through destructive neo-liberal policies. One can’t happen without the other. This violence permeates the book because so many characters either suffer because of it or inflict it on the less fortunate. This could be physical or psychological and the author is often explicit in her descriptions. This is an India that’s far away from the glossy tourist brochures advertising a tranquil holiday at the Taj Mahal. This section could be written by any number of Indian critics about Roy herself, incensed that a citizen of their country dares to publicly shame the human rights abuses of the current and previous governments. Roy’s life is committed to those less fortunate than her, more marginalized and hated by the majority. It’s where the best writers should always be. It’s hard not to be transported to India with Roy’s love and revulsion of her birth country. The book isn’t a dry exercise in political culture but a rich and detailed look at a nation that overwhelms visitors and citizens. Roy is unforgiving of its mainstream leadership but embraces the myriad of characters she has created
International Nosocomial Infection Control Consortium report, data summary of 50 countries for 2010-2015: Device-associated module
No full text•We report INICC device-associated module data of 50 countries from 2010-2015.•We collected prospective data from 861,284 patients in 703 ICUs for 3,506,562 days.•DA-HAI rates and bacterial resistance were higher in the INICC ICUs than in CDC-NHSN's.•Device utilization ratio in the INICC ICUs was similar to CDC-NHSN's.
Background: We report the results of International Nosocomial Infection Control Consortium (INICC) surveillance study from January 2010-December 2015 in 703 intensive care units (ICUs) in Latin America, Europe, Eastern Mediterranean, Southeast Asia, and Western Pacific.
Methods: During the 6-year study period, using Centers for Disease Control and Prevention National Healthcare Safety Network (CDC-NHSN) definitions for device-associated health care-associated infection (DA-HAI), we collected prospective data from 861,284 patients hospitalized in INICC hospital ICUs for an aggregate of 3,506,562 days.
Results: Although device use in INICC ICUs was similar to that reported from CDC-NHSN ICUs, DA-HAI rates were higher in the INICC ICUs: in the INICC medical-surgical ICUs, the pooled rate of central line-associated bloodstream infection, 4.1 per 1,000 central line-days, was nearly 5-fold higher than the 0.8 per 1,000 central line-days reported from comparable US ICUs, the overall rate of ventilator-associated pneumonia was also higher, 13.1 versus 0.9 per 1,000 ventilator-days, as was the rate of catheter-associated urinary tract infection, 5.07 versus 1.7 per 1,000 catheter-days. From blood cultures samples, frequencies of resistance of Pseudomonas isolates to amikacin (29.87% vs 10%) and to imipenem (44.3% vs 26.1%), and of Klebsiella pneumoniae isolates to ceftazidime (73.2% vs 28.8%) and to imipenem (43.27% vs 12.8%) were also higher in the INICC ICUs compared with CDC-NHSN ICUs.
Conclusions: Although DA-HAIs in INICC ICU patients continue to be higher than the rates reported in CDC-NSHN ICUs representing the developed world, we have observed a significant trend toward the reduction of DA-HAI rates in INICC ICUs as shown in each international report. It is INICC's main goal to continue facilitating education, training, and basic and cost-effective tools and resources, such as standardized forms and an online platform, to tackle this problem effectively and systematically
International Nosocomial Infection Control Consortium report, data summary of 50 countries for 2010-2015: Device-associated module
No full textBackground: We report the results of International Nosocomial Infection Control Consortium (INICC) surveillance study from January 2010-December 2015 in 703 intensive care units (ICUs) in Latin America, Europe, Eastern Mediterranean, Southeast Asia, and Western Pacific
