Heterozygous pathogenic variants in DNM1 are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in DNM1 were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we investigated a singleton from a first-degree cousin marriage who presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. To identify the involvement of any likely genetic cause, diagnostic clinical exome sequencing was performed. Comprehensive filtering revealed a single plausible candidate variant in DNM1. Sanger sequencing of the trio, the patient, and her parents, confirmed the full segregation of the variant. The variant is a deletion leading to a premature stop codon and is predicted to cause a protein truncation. Structural modeling implicated a complete loss of function of the Dynamin 1 (DNM1). Such mutation is predicted to impair the nucleotide binding, dimer formation, and GTPase activity of DNM1. Our study expands the phenotypic spectrum of pathogenic homozygous loss-of-function variants in DNM1.

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We estimate the cost-effectiveness of plug-in electric vehicle (PEV) subsidies in reducing tailpipe-CO 2 emissions in China, the U.S., and nine European countries. We find that the per-tonne cost of tailpipe-CO 2 avoided increases linearly with the government-subsidized percentage of the PEV price. Costs are relatively higher in the Netherlands and Denmark, which subsidized high-priced PEVs including plug-in hybrids, and lower in the U.S., where PEVs replaced higher-emissions cars. Chinese PEV subsidies have a short-run static cost of up to $1,600 per tonne, far exceeding the social cost of carbon, suggesting that subsidies are more a part of China's industrial policy than its carbon policy. When subsidy-induced PEV sales and power generation emissions are considered, the ordering of countries based on the cost-effectiveness of subsidies changes. The long-run dynamic subsidy cost is expected to be lower, as current subsidies may drive future innovation and sales, and due to grid decarbonization.

Primary CNS vasculitis is an inflammatory brain disease commonly misdiagnosed affecting the medium and small vessels of the CNS. Due to its broad and non-specific clinical and radiological manifestations; Its diagnosis remains challenging. New diagnostic tools and biomarkers which increase specificity and facilitate the diagnosis for patients with suspected vasculitis are highly desirable to enable physicians to start therapy that can alter its potential aggressive course like immunosuppressant. This case report highlights the potential role of 18 F-choline PET/MRI as a novel imaging tool that might help in the right clinical scenario in the diagnosis of this disease. Furthermore, it speculates on its secondary role in monitoring the response to immunosuppressant therapy.

Eosinophilic gastrointestinal diseases (EGIDs) are a diverse group of intestinal diseases involving the infiltration of eosinophils into the bowel wall. EGID can present with a variety of clinical conditions, which are largely dependent on the location of eosinophils in the intestinal wall. We describe the first reported pediatric cases of EGID presenting with symptomatic partial bowel obstruction from intestinal masses due to isolated focal mural involvement. Both patients subsequently responded favorably to therapy with exclusive elemental nutrition in the first case and exclusive elemental nutrition with steroids in the second case. These cases reveal the wide-ranging clinical manifestations of EGID, expand on the differential diagnosis of focal intestinal masses, and provide guidance on the evaluation of ambiguous cases.