Supracubital perineurioma misdiagnosed as carpal tunnel syndrome: case report

BACKGROUND: Perineuriomas have been defined as tumorous lesions of the peripheral nerves which derive from perineurial cell proliferation and may be associated with abnormalities on chromosome 22. CASE PRESENTATION: Three years after a painful cubital vein procaine injection, a 33 year-old man developed a median nerve lesion, initially diagnosed as carpal tunnel syndrome. Symptoms progressed despite appropriate surgery. Clinical and electrophysiological re-evaluation revealed a fusiform mass at the distal upper arm, confirmed by MRI. Immunohistochemical studies classified the tumor as a mixed perineurioma and neuroma. CONCLUSIONS: Perineurioma mixed with neuroma may potentially caused by the previous trauma or cytotoxic effects of procaine

Hepatic mitochondrial dysfunction in Friedreich Ataxia

<p>Abstract</p> <p>Background</p> <p>Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.</p> <p>Methods</p> <p>We assessed hepatic mitochondrial function by ¹³C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.</p> <p>Results</p> <p>Patients exhaled significantly smaller amounts of ¹³CO₂over 90 minutes. Maximal exhaled percentage dose of ¹³CO₂recovery was reduced compared to controls.</p> <p>Conclusions</p> <p>¹³C-methionine-breath-test indicates subclinical hepatic mitochondrial dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.</p

Разработка схемы очистки сточных вод от нефтепродуктов

В дипломной работе рассмотрены происхождение, состав, показатели качества сточных вод, методы очистки сточных вод от нефтепродуктов. Проведены исследования качества сточных вод. Разработаны наиболее эффективные методы очистки сточных вод от нефтепродуктов.The thesis examines the origin, composition, quality indicators of wastewater, methods of wastewater treatment from petroleum products. Research wastewater quality water The most effective methods for treating wastewater from oil products have been developed

Management of anaphylaxis due to COVID-19 vaccines in the elderly

Older adults, especially men and/or those with diabetes, hypertension, and/or obesity, are prone to severe COVID-19. In some countries, older adults, particularly those residing in nursing homes, have been prioritized to receive COVID-19 vaccines due to high risk of death. In very rare instances, the COVID-19 vaccines can induce anaphylaxis, and the management of anaphylaxis in older people should be considered carefully. An ARIA-EAACI-EuGMS (Allergic Rhinitis and its Impact on Asthma, European Academy of Allergy and Clinical Immunology, and European Geriatric Medicine Society) Working Group has proposed some recommendations for older adults receiving the COVID-19 vaccines. Anaphylaxis to COVID-19 vaccines is extremely rare (from 1 per 100,000 to 5 per million injections). Symptoms are similar in younger and older adults but they tend to be more severe in the older patients. Adrenaline is the mainstay treatment and should be readily available. A flowchart is proposed to manage anaphylaxis in the older patients.Peer reviewe

Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.

Mutations in two genes, alpha-synuclein and parkin, have been identified as some rare causes for familial Parkinson's disease (PD). alpha-Synuclein and parkin protein have subsequently been identified in Lewy bodies (LB). To gain further insight into the pathogenesis of PD we investigated the role of neurofilament light (NF-L), another component of LB aggregation. A detailed mutation search of the NF-L gene in 328 sporadic and familial PD patients of German ancestry revealed three silent DNA changes (G163A, C224T, C487T) in three unrelated patients. Analysis of the promoter region of the NF-L gene identified a total of three base pair substitutions defining five haplotypes. Association studies based on these haplotypes revealed no significant differences between PD patients and 344 control individuals. Therefore, NF-L is unlikely to play a major role in the pathogenesis of PD

Polymorphisms in the interleukin-1 alpha and beta genes and the risk for Parkinson's disease.

Several lines of evidence indicate that immune mechanisms are involved in the pathogenesis of neurodegenerative disorders. Activated immunocompetent cells and inflammatory cytokines are present in affected brain regions in patients with Alzheimer's (AD) and Parkinson's disease (PD). For AD biochemical and pathological data are supported by genetic studies identifying risk alleles for polymorphisms in regulatory regions of the interleukin-1 alpha (IL-1 alpha-889) and interleukin-1 beta (IL-1 beta-511) gene, respectively. The partially overlapping pathology and inflammatory reaction pattern between AD and PD led us to investigate these polymorphisms in a large sample of 295 German PD patients and 270 healthy controls. We found T in position -511 in the IL-1 beta gene more frequent in patients compared to controls (chi(2)=4.44, P=0.034). For the IL-1 alpha-889 polymorphism no significant difference between patients and controls was observed

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

OBJECTIVE: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is caused by autosomal-dominantly inherited mutations in the colony stimulating factor 1 receptor (CSF1R) gene, and is clinically characterized by a progressive cognitive and motor decline leading to death within several years. METHODS: In a continuous series of 25 patients with adult-onset leukoencephalopathy of unknown cause, we genetically confirmed HDLS in 6 families. Affected and nonaffected individuals were examined clinically and by brain MRI studies. RESULTS: HDLS presented as prominent dementia and apraxia, often with extrapyramidal and pyramidal signs, rarely with ataxia. White matter MRI changes were detectable early in the disease course. Family history was negative in 4 of 6 index patients. In 2 of 6 index patients, we could confirm the occurrence of de novo mutations in the CSF1R gene. One family showed possible incomplete penetrance: the 69-year-old father of the index patient carried a CSF1R mutation but was clinically unaffected. In one family, the parents were apparently unaffected and not available for genetic testing. CONCLUSIONS: Typical clinical phenotype and early brain MRI alterations can help to guide the diagnosis of HDLS. Because we confirmed de novo mutations in one-third of patients with CSF1R mutations, this diagnosis should be considered even in the absence of a family history. Furthermore, we present evidence for reduced penetrance of a CSF1R mutation. These results have substantial impact for genetic counseling of asymptomatic individuals at risk and should foster research into disease-modifying factors