Porokeratosis: Two Faces, One Family

Porokeratosis is a disorder of keratinisation whose pathogenesis is yet unclear. It has been postulated that it results from the proliferation of an abnormal clone of keratinocytes, triggered by several factors, such as immunosuppression or prolonged ultraviolet exposure. Various clinical forms are recognized whose common denominator is a keratotic ring surrounding a central zone of atrophy. The histological hallmark is the cornoid lamella, a thin column of hyperproliferative abnormal keratinocytes. We describe two cases of porokeratosis. A 67-year-old woman with an erythematous purplish round plaque surrounded by a keratotic border that had appeared 6 years previously on the left sural region was diagnosed as ‘giant’ porokeratosis. A 49-year-old man presented with small papules coalescent in an erythematous oval plaque on the lateral side of the left foot consistent with linear porokeratosis

Refractory Coats’ Disease of Adult Onset

Purpose: We present the case of an 18-year-old Caucasian male with a unilateral macular star and retinal vascular anomalies compatible with adult onset Coats’ disease. Methods: Diagnosis was based on fundoscopic, fluorescein angiography and optical coherence tomography findings. Results: The patient presented to our emergency department with complaints of low vision in his left eye (LE) detected 10 days before. The best-corrected visual acuity in the LE was 20/50. Fundoscopy of the LE evidenced a complete macular star. Optical coherence tomography showed increased retinal thickness, infiltration of the retinal wall, and detachment of the neuroepithelium. Angiography revealed no appreciable diffusion in the macula. Above the superior temporal (ST) arcade, anomalies in the retinal vasculature were found, with interruption of the peripheral vessels and vessels which were ‘sausage’-like. After 1 month, the LE vision evolved to hand movements. Laser photocoagulation was performed in the ST quadrant. Intravitreal injection of bevacizumab 1.25 mg/0.05 ml and photodynamic therapy were performed without any significant changes, progression of ST serous detachment of the neuroepithelium, and finally progression to macular fibrosis. Discussion: Coats’ disease is usually diagnosed in childhood, but rare cases may occur in adults. Those cases usually have a more indolent course which was not observed in our patient. When there is macular involvement, prognosis is more guarded, despite treatment

Massive Upper Gastrointestinal Bleeding Secondary to Duodenal Metastasis of Transitional Cell Carcinoma of the Urinary Bladder

Acute upper gastrointestinal (UGI) bleeding is a common problem in our clinical practice and is often due to peptic ulcer diseases. Occasionally, malignancy may be implicated in these situations. Here we report a rare case of UGI bleeding secondary to metastatic transitional cell carcinoma (TCC) of the urinary bladder. A 62-year-old man with a history of stage IIIb TCC of the urinary bladder presented with hematemesis. Endoscopy showed a large tumor in the second stage of the duodenum that occupied 40% of the duodenal circumference, over 7 cm in length. Biopsies revealed a poorly differentiated malignant neoplasm consistent with metastasis from urothelial carcinoma that was identical to the previous surgical specimen of the urinary bladder. He was treated with supportive therapy and intravenous proton pump inhibitor and was discharged home 2 weeks later. Two weeks after discharge, the patient returned to the hospital with a painful swelling of the floor of his mouth. Biopsy again showed the same cancer type. He had unremitting bleeding from his mouth requiring multiple transfusions and a course of palliative radiation therapy. He progressively deteriorated in his cardiopulmonary and neurological functions and expired with cardiopulmonary arrest one month later

Identification of a gene for an ancient cytokine, interleukin 15-like, in mammals; interleukins 2 and 15 co-evolved with this third family member, all sharing binding motifs for IL-15Rα

Interleukins 2 and 15 (IL-2 and IL-15) are highly differentiated but related cytokines with overlapping, yet also distinct functions, and established benefits for medical drug use. The present study identified a gene for an ancient third IL-2/15 family member in reptiles and mammals, interleukin 15-like (IL-15L), which hitherto was only reported in fish. IL-15L genes with intact open reading frames (ORFs) and evidence of transcription, and a recent past of purifying selection, were found for cattle, horse, sheep, pig and rabbit. In human and mouse the IL-15L ORF is incapacitated. Although deduced IL-15L proteins share only ~21 % overall amino acid identity with IL-15, they share many of the IL-15 residues important for binding to receptor chain IL-15Rα, and recombinant bovine IL-15L was shown to interact with IL-15Rα indeed. Comparison of sequence motifs indicates that capacity for binding IL-15Rα is an ancestral characteristic of the IL-2/15/15L family, in accordance with a recent study which showed that in fish both IL-2 and IL-15 can bind IL-15Rα. Evidence reveals that the species lineage leading to mammals started out with three similar cytokines IL-2, IL-15 and IL-15L, and that later in evolution (1) IL-2 and IL-2Rα receptor chain acquired a new and specific binding mode and (2) IL-15L was lost in several but not all groups of mammals. The present study forms an important step forward in understanding this potent family of cytokines, and may help to improve future strategies for their application in veterinarian and human medicine

Deep Brain Stimulation of the Subthalamic Nucleus for Parkinson's Disease in a Patient with HIV Infection: Dual Clinical Benefit

As a result of the efficacy of highly active antiretroviral therapy (HAART), patients with human immunodeficiency virus (HIV) can survive longer and are thus naturally prone to ageing-related degenerative disorders such as Parkinson's disease (PD). Managing PD and HIV in the same patient may be challenging, as HAART and levodopa interact and may cause intolerable side effects. Concerns about the increased risk of hardware infection in immunocompromised patients submitted to deep brain stimulation of the subthalamic nucleus (STN-DBS) still persist. We report a PD patient with HIV infection who suffered peak-dose dyskinesias and intolerable gastrointestinal side effects while on HAART, prompting its suspension. STN-DBS allowed complete postoperative levodopa withdrawal and HAART restart, without infectious complications after 12 months of follow-up. STN-DBS seems to be a safe procedure in selected patients with both medically refractory PD and HIV infection, and may result in clinical optimization of both conditions

Fair Resource Sharing for Dynamic Scheduling of Workflows on Heterogeneous Systems

International audienceScheduling independent workflows on shared resources in a way that satisfy users Quality of Service is a significant challenge. In this study, we describe methodologies for off-line scheduling, where a schedule is generated for a set of knownworkflows, and on-line scheduling, where users can submit workflows at any moment in time. We consider the on-line scheduling problem in more detail and present performance comparisons of state-of-the-art algorithms for a realistic model of a heterogeneous system

Biogenic Nitrogen Gas Production at the Oxic–Anoxic Interface in the Cariaco Basin, Venezuela

Excess nitrogen gas (N2xs) was measured in samples collected at six locations in the eastern and western sub-basins of the Cariaco Basin, Venezuela, in September 2008 (non-upwelling conditions) and March 2009 (upwelling conditions). During both sampling periods, N2xs concentrations were below detection in surface waters, increasing to ~ 22 μmol N kg−1 at the oxic–anoxic interface ([O2] \u3c ~ 4 μmol kg−1, ~ 250 m). Below the oxic–anoxic interface (300–400 m), the average concentration of N2xs was 24.7 ± 1.9 μmol N kg−1 in September 2008 and 27.5 ± 2.0 μmol N kg−1 in March 2009, i.e., N2xs concentrations within this depth interval were ~ 3 μmol N kg−1 higher (p \u3c 0.001) during the upwelling season compared to the non-upwelling period. These results suggest that N-loss in the Cariaco Basin may vary seasonally in response to changes in the flux of sinking particulate organic matter. We attribute the increase in N2xs concentrations, or N-loss, observed during upwelling to: (1) higher availability of fixed nitrogen derived from suspended and sinking particles at the oxic–anoxic interface and/or (2) enhanced ventilation at the oxic–anoxic interface during upwelling

Rapid Screening of Complex DNA Samples by Single-Molecule Amplification and Sequencing

Microbial cloning makes Sanger sequencing of complex DNA samples possible but is labor intensive. We present a simple, rapid and robust method that enables laboratories without special equipment to perform single-molecule amplicon sequencing, although in a low-throughput manner, from sub-picogram quantities of DNA. The method can also be used for quick quality control of next-generation sequencing libraries, as was demonstrated for a metagenomic sample

Aquaporin-2 Promoter Is Synergistically Regulated by Nitric Oxide and Nuclear Factor of Activated T Cells

www.karger.com/nne This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License (www.karger.com/OA-license), applicable to the online version of the article only. Distribution for non-commercial purposes only