Neurological presentation of hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is an inflammatory disorder arising from defects in critical regulatory pathways responsible for termination of inflammatory response. We are presenting a case report of a 20-year-old male, admitted to the Department of Neurology because of left lower limb weakness and balance disturbances. After a few days of hospitalization, fever occurred. Laboratory tests revealed anemia, neutropenia, lymphopenia, and thrombocytopenia. The clinical course and laboratory tests results confirmed the diagnosis of HLH. In our opinion, the disorder in the presented case occurred due to severe chronic active Epstein–Barr virus infection syndrome. We are presenting the case of pure neurological onset of hemophagocytic lymphohistiocytosis in an adult patient. Hemophagocytic lymphohistiocytosis, initially presenting with neurological symptoms, can occur in adult patients with irrelevant family history. It is a life-threatening but potentially curable condition requiring proper diagnostic and treatment management

Neurological presentation of hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) is an inflammatory disorder arising from defects in critical regulatory pathways responsible for termination of inflammatory response. We are presenting a case report of a 20-year-old male, admitted to the Department of Neurology because of left lower limb weakness and balance disturbances. After a few days of hospitalization, fever occurred. Laboratory tests revealed anemia, neutropenia, lymphopenia, and thrombocytopenia. The clinical course and laboratory tests results confirmed the diagnosis of HLH. In our opinion, the disorder in the presented case occurred due to severe chronic active Epstein–Barr virus infection syndrome. We are presenting the case of pure neurological onset of hemophagocytic lymphohistiocytosis in an adult patient. Hemophagocytic lymphohistiocytosis, initially presenting with neurological symptoms, can occur in adult patients with irrelevant family history. It is a life-threatening but potentially curable condition requiring proper diagnostic and treatment management

Association between C677T polymorphism of MTHFR gene and risk of amyotrophic lateral sclerosis : polish population study and a meta-analysis

Objective: Genetic factors play a role in pathogenesis of amyotrophic lateral sclerosis (ALS). A few studies demonstrated that the TT genotype of C677T polymorphism of the 5,10- methylenetetrahydrofolate reductase (MTHFR) gene can increase the risk of sporadic ALS. The aim of our study was to determine the relationship between C677T polymorphism of MTHFR gene and the risk of sporadic ALS in Polish population and to perform the metaanalysis assessing the significance this polymorphism for the risk of ALS in Caucasian population. Methods: We included 251 patients with ALS and 500 control subjects recruited from Polish population and performed the meta-analysis of published data from Caucasian population. MTHFR C677T polymorphism was genotyped using a TaqMan assay and 7900HT Fast real Time PCR System. Results: The frequency of genotypes did not differ significantly between Polish ALS patients and control subjects (CC: 45.0 vs 45.8%, CT: 48.2 vs 45.0%, TT: 6.8 vs 9.2%, P = 0.46). The metaanalysis including 863 ALS patients and 1362 controls revealed that TT genotype increases the risk of sporadic ALS in Caucasian population. Conclusion: Although we did not find the association between C677T polymorphism of MTHRF gene and risk of ALS in Polish population, the results of meta-analysis suggest that the TT genotype can be a genetic risk factor for ALS in Caucasian population

Association between C677T polymorphism of MTHFR gene and risk of amyotrophic lateral sclerosis: Polish population study and a meta-analysis

Objective Genetic factors play a role in pathogenesis of amyotrophic lateral sclerosis (ALS). A few studies demonstrated that the TT genotype of C677T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene can increase the risk of sporadic ALS. The aim of our study was to determine the relationship between C677T polymorphism of MTHFR gene and the risk of sporadic ALS in Polish population and to perform the meta-analysis assessing the significance this polymorphism for the risk of ALS in Caucasian population. Methods We included 251 patients with ALS and 500 control subjects recruited from Polish population and performed the meta-analysis of published data from Caucasian population. MTHFR C677T polymorphism was genotyped using a TaqMan assay and 7900HT Fast real Time PCR System. Results The frequency of genotypes did not differ significantly between Polish ALS patients and control subjects (CC: 45.0 vs 45.8%, CT: 48.2 vs 45.0%, TT: 6.8 vs 9.2%, P=0.46). The meta-analysis including 863 ALS patients and 1362 controls revealed that TT genotype increases the risk of sporadic ALS in Caucasian population. Conclusion Although we did not find the association between C677T polymorphism of MTHRF gene and risk of ALS in Polish population, the results of meta-analysis suggest that the TT genotype can be a genetic risk factor for ALS in Caucasian population

Stwardnienie rozsiane o późnym początku. Dobór terapii w kontekście starzenia się układu immunologicznego

Stwardnienie rozsiane o późnym początku (LOMS, late onset multiple sclerosis) definiuje się jako zachorowanie występujące po 50. roku życia. Obraz kliniczny choroby oraz rokowanie znacząco się różnią od obrazu klasycznej postaci stwardnienia rozsianego. W doborze terapii immunomodulującej należy uwzględnić zmiany w układzie immunologicznym zachodzące w przebiegu jego starzenia. W badaniach klinicznych dostępnych terapii nie uwzględnia się oceny bezpieczeństwa oraz korzyści u osób po 55. roku życia. Ponadto ryzyko działań niepożądanych wynikających z kumulacji starzenia się układu immunologicznego oraz stosowanej immunomodulacji moż e być modyfikowane odpowiednią profilaktyką oraz szczepieniami ochronnymi