We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
Lipopolysaccharide (endotoxin) from the outer Gram-negative bacterial wall can induce a harmful immunologic response, involving hemodynamic deprivation, and is one important motor driving the septic cascade. The positively charged poly-imine ethylene layer on the oXiris membrane is capable of adsorbing negatively charged endotoxin molecules and removing them from the blood compartment. Endotoxin is detrimental and should be removed from blood.
The adsorbable endotoxin fraction in blood arises from a tight balance between seeding from an infectious focus and removal by an overwhelmed immune system. The net sum of remaining endotoxin in blood is available for an adsorption process in the oXiris filter. Endotoxin data from 2 patients with severe Gram-negative septic shock and endotoxemia in this case series, speaks for a considerable share of the adsorption of the oXiris filter in the endotoxin net removal over time. Key Messages: Analysis of combined in vitro and in vivo data speaks for an effect of the oXiris filter in lowering endotoxin.
Erysipelothrix rhusiopathiae is a zoonotic pathogen that causes erysipeloid and is most frequently associated with exposure to domestic swine. Infection of native and prosthetic joints is a rarely reported manifestation.
We describe a case of E. rhusiopathiae prosthetic joint infection in a woman with a history of exposure to wild animals in the Canadian Arctic. Patient management involved a 1-stage surgical revision exchange with an antibiotic impregnated cement spacer and 6 weeks of intravenous penicillin G followed by 6?weeks of oral amoxicillin. Ten previously reported cases of E. rhusiopathiae joint infection are reviewed. Recent increases in mortality due to infection with this organism among host animal populations in the Canadian Arctic have generated concern regarding a potential increase in human infections. However, whole genome sequencing (WGS) of the organism was unable to identify a zoonotic origin for this case.
Consideration should be given to E. rhusiopathiae as a cause of joint infections if the appropriate epidemiologic and host risk factors exist. Expanded use of WGS in other potential animal hosts and environmental sources may provide important epidemiologic information in determining the source of human infections.
Cold-induced peripheral neuropathy has been described in individuals exposed to severe cold resulting in pain, hypersensitivity to cold, hyperhidrosis, numbness, and skin changes. Nerve conduction studies and thermal detection thresholds are abnormal in symptomatic patients, and intraepidermal nerve fiber density (IENFD) in skin biopsies is reduced.
A 41-year-old male was included as a healthy subject in a study of the spontaneous variability of quantitative sensory testing (QST), nerve conduction studies (NCS), and IENFD. Unexpectedly, IENFD was significantly reduced, whereas the rest of the examination was normal except for reduced vibration detection threshold. The results were confirmed at follow-up examination. The subject had been repeatedly exposed to severe cold resulting in short lasting numbness and paresthesia while living in the eastern part of Greenland and the northern part of Norway.
Loss of intraepidermal nerve fibers caused by exposure to severe cold may be asymptomatic, and their function assessed by thermal detection thresholds may be preserved. This case illustrates that QST and IENFD are complementary tests and that subclinical cold-induced peripheral neuropathy may be prevalent in subjects living in or near polar regions which could have implications for the recruitment of healthy subjects.
The critically endangered population of Far Eastern leopards ( Panthera pardus orientalis) may number as few as 60 individuals and is at risk from stochastic processes such as infectious disease. During May 2015, a case of canine distemper virus (CDV) was diagnosed in a wild leopard exhibiting severe neurologic disease in the Russian territory of Primorskii Krai. Amplified sequences of the CDV hemagglutinin gene and phosphoprotein gene aligned within the Arctic-like clade of CDV, which includes viruses from elsewhere in Russia, China, Europe, and North America. Histologic examination of cerebral tissue revealed perivascular lymphoid cuffing and demyelination of the white matter consistent with CDV infection. Neutralizing antibodies against CDV were detected in archived serum from two wild Far Eastern leopards sampled during 1993-94, confirming previous exposure in the population. This leopard population is likely too small to maintain circulation of CDV, suggesting that infections arise from spillover from more-abundant domestic or wild carnivore reservoirs. Increasing the population size and establishment of additional populations of leopards would be important steps toward securing the future of this subspecies and reducing the risk posed by future outbreaks of CDV or other infectious diseases.
Phytophotodermatitis is caused by deposition of photosensitising compounds on the skin followed by ultraviolet exposure. We present an unusual case of a 29-year-old Australian male visiting Greenland who presented with severe itchy bullous eruption on his hands. The cause was a combination of exposure to lime fruit juice and prolonged sun exposure from the Arctic midnight sun.
For more than 200 years people in the Faroe Islands have supplemented their food by hunting different species of wild birds in the Faroe Islands. Traditionally, juvenile fulmars (Fulmarus glacialis) are caught at sea in late August. The fulmars may be infected or colonized with the bacterium Chlamydophila psittaci which may infect the hunter by the respiratory route and mostly presents as an atypical pneumonia, also called psittacosis or ornithosis or parrot fever. In the Faroe Islands it is called 'nátasjúka' meaning 'fulmar disease'. Historically, it has also been called 'September Pneumonia' in the Faroe Islands.
A case series with patients infected with Chlamydophila psittaci.
All four cases presented in this article occurred around the month of September. Improved hygiene measures during the last 50 years in handling the fulmar birds have led to a decline of verified psittacosis in the Faroe Islands. After the last two hunting seasons (2016-2017), four cases of psittacosis were diagnosed and treated in the Faroe Islands. Only nine cases of verified psittacosis have been reported to the Chief Medical Officer of the Faroe Islands during the last 27 years.
There is an association between catching and handling Fulmarus glacialis and human psittacosis disease in the Faroe Islands. Clinicians treating patients with contact with fulmars should be aware of this zoonotic disease.
The authors report clinical and laboratory data concerning a case of hemorrhagic dengue fever introduced to Ul’yanovsk by a tourist who had spent holiday in Vietnam. The clinical picture of the disease is described along with results of clinical and laboratory analyses. The approaches to the evaluation of the patient's health status during the period of primary examination and medical care as well as the problems that arose after the final diagnosis was established are discussed.