Metastatic neuroendocrine tumor masquerading as orbital cysticercosis

Orbital metastases secondary to neuroendocrine tumors are exceedingly rare. We present a unique case of a 30-year-old female initially presenting with fever, chills, periorbital swelling, and painful proptosis. CT orbits revealed two ovoid-shaped ring-enhancing lesions in the right lateral and superior rectus muscles and clear sinuses, atypical for infectious post-septal cellulitis. Further work-up included serologic analysis, auto-immune panel, and MRI. Further imaging showed pseudocystic orbital lesions mimicking orbital cysticercosis. Additionally, given the bilateral nature of the lesions and patient’s country of origin, this parasitic process was highly suspected. A course of albendazole and steroids led to resolution of symptoms. With a presentation at age 30, this is by far the youngest case reported in literature to date

Causes of Reduced Visual Quality of Life in Patients with Migraine

The purpose of the study is to determine the causes of reduced vision-specific quality of life (QOL) in patients with migraine. Our; group previously showed that visual QOL scores of patients with migraine are significantly reduced, and are similar to those with other neuro-ophthalmic disorders, such as multiple sclerosis and optic neuritis (1). Possible causes of reduced visual QOL are; photophobia, visual aura, and dry eye syndrome

Clinico-Radiological Correlation of Magnetic Resonance Imaging and Ocular Symptoms and Signs in Patients with Idiopathic Intracranial Hypertension

The purpose of this study was to correlate magnetic resonance imaging (MRI) findings in patients with idiopathic intracranial hypertension (IIH) to their presenting complaint, severity of vision loss, and laterality of ocular symptoms and signs

Strike a Chord (abstract)

A 26 year old woman presented in August 2016 with migraine over the last 4 years, getting worse over the last 2 weeks. She reported occasional "glittering" in her vision in both eyes. She had no constitutional symptoms. Her past medical history included migraine, idiopathic leukocytosis, and nephrolithiasis.Patient Care, Medical Knowledge, PBLI, SBP, Professionalism, IPCS, VBintracranialtumor

Strike a Chord (video)

A 26 year old woman presented in August 2016 with migraine over the last 4 years, getting worse over the last 2 weeks. She reported occasional "glittering" in her vision in both eyes. She had no constitutional symptoms. Her past medical history included migraine, idiopathic leukocytosis, and nephrolithiasis.Patient Care, Medical Knowledge, PBLI, SBP, Professionalism, IPCS, VBintracranialtumor

Strike a Chord (slideshow)

A 26 year old woman presented in August 2016 with migraine over the last 4 years, getting worse over the last 2 weeks. She reported occasional "glittering" in her vision in both eyes. She had no constitutional symptoms. Her past medical history included migraine, idiopathic leukocytosis, and nephrolithiasis.Patient Care, Medical Knowledge, PBLI, SBP, Professionalism, IPCS, VBintracranialtumor

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

BACKGROUND: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. METHODS: We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease. RESULTS: We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS. CONCLUSIONS: MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy

Rho1- and Pkc1-dependent phosphorylation of the F-BAR protein Syp1 contributes to septin ring assembly

International audienceIn many cell types, septins assemble into filaments and rings at the neck of cellular appendages and/or at the cleavage furrow to help compartmentalize the plasma membrane and support cytokinesis. How septin ring assembly is coordinated with membrane re-modeling and controlled by mechanical stress at these sites is unclear. Through a genetic screen, we uncovered an unanticipated link between the conserved Rho1 GTPase and its ef-fector protein kinase C (Pkc1) with septin ring stability in yeast. Both Rho1 and Pkc1 stabilize the septin ring, at least partly through phosphorylation of the membrane-associated F-BAR protein Syp1, which colocalizes asymmetrically with the septin ring at the bud neck. Syp1 is displaced from the bud neck upon Pkc1-dependent phosphorylation at two serines, thereby affecting the rigidity of the new-forming septin ring. We propose that Rho1 and Pkc1 coordinate septin ring assembly with membrane and cell wall remodeling partly by controlling Syp1 residence at the bud neck

\u3ci\u3eDrosophila\u3c/i\u3e Muller F Elements Maintain a Distinct Set of Genomic Properties Over 40 Million Years of Evolution

The Muller F element (4.2 Mb, ~80 protein-coding genes) is an unusual autosome of Drosophila melanogaster; it is mostly heterochromatic with a low recombination rate. To investigate how these properties impact the evolution of repeats and genes, we manually improved the sequence and annotated the genes on the D. erecta, D. mojavensis, and D. grimshawi F elements and euchromatic domains from the Muller D element. We find that F elements have greater transposon density (25–50%) than euchromatic reference regions (3–11%). Among the F elements, D. grimshawi has the lowest transposon density (particularly DINE-1: 2% vs. 11–27%). F element genes have larger coding spans, more coding exons, larger introns, and lower codon bias. Comparison of the Effective Number of Codons with the Codon Adaptation Index shows that, in contrast to the other species, codon bias in D. grimshawi F element genes can be attributed primarily to selection instead of mutational biases, suggesting that density and types of transposons affect the degree of local heterochromatin formation. F element genes have lower estimated DNA melting temperatures than D element genes, potentially facilitating transcription through heterochromatin. Most F element genes (~90%) have remained on that element, but the F element has smaller syntenic blocks than genome averages (3.4–3.6 vs. 8.4–8.8 genes per block), indicating greater rates of inversion despite lower rates of recombination. Overall, the F element has maintained characteristics that are distinct from other autosomes in the Drosophila lineage, illuminating the constraints imposed by a heterochromatic milieu