The balloon-based manometry evaluation of swallowing in patients with amyotrophic lateral sclerosis

The aim of the study was to analyse the disturbances of the oro-pharyngeal swallowing phase of dysphagia in amyotrophic lateral sclerosis (ALS) patients with the use of specific manometric measurements and to evaluate their plausible association with the duration of the disease. Seventeen patients with ALS were evaluated with manometric examinations of the oral and pharyngeal part of the gastrointestinal tract. Tests were carried out by using the oesophageal balloon-based method with four balloon transducers located 5 cm away from each other. The following manometric parameters were analysed: the base of tongue contraction (BTC) and the upper oesophageal sphincter pressure (UESP), and the hypopharyngeal suction pump (HSP) as well as the oro-pharyngeal, pharyngeal and hypopharyngeal transit time and average pharyngeal bolus velocity (oropharyngeal transit time (OTT), pharyngeal transit time (PTT), hypopharyngeal transit time (HTT) and average pharyngeal bolus velocity (APBV), respectively). Manomatric examinations during swallowing in patients with ALS showed significant weakness of BTC, a decrease of HSP and a decrease of the velocity of bolus transit inside the pharynx which were particularly marked between the first and the third examination. Manometric examinations of the oro-pharyngeal part of the gastrointestinal tract are useful and supportive methods in the analysis of swallowing disturbances in ALS patients

Polimorfizm –A162G genu PON1 jako czynnik ryzyka rozwoju sporadycznej postaci stwardnienia bocznego zanikowego

Background and purpose: Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the present study was to identify an association between the –A162G polymorphism of the promoter region of the human PON1 gene and the risk of sALS in a Polish population. Material and methods: We included 259 patients with a diagnosis of definite or probable sALS (76 bulbar onset, 183 limb onset) and 694 healthy controls matched for age and sex. The diagnosis of ALS was established according to El Escorial criteria. The polymorphism was studied by Single Nucleotide Polymorphism Real-Time Polymerase Chain Reaction analysis. Results: No overall difference in the PON1 –A162G geno - type and allele distribution was seen between cases and controls (all p > 0.05). There was, however, a difference in the A allele frequency when the bulbar onset group was compared to the controls (p = 0.03), but this significance disappeared after the Bonferroni correction. Conclusions: The results did not show that the –A162G polymorphism of the PON1 gene is a risk factor of sALS in a Polish population; it may affect, however, bulbar onset of the disease

Polimorfizm –A162G genu PON1 jako czynnik ryzyka rozwoju sporadycznej postaci stwardnienia bocznego zanikowego

Background and purpose Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the present study was to identify an association between the – A162G polymorphism of the promoter region of the human PON1 gene and the risk of sALS in a Polish population. Material and methods We included 259 patients with a diagnosis of definite or probable sALS (76 bulbar onset, 183 limb onset) and 694 healthy controls matched for age and sex. The diagnosis of ALS was established according to El Escorial criteria. The polymorphism was studied by Single Nucleotide Polymorphism Real-Time Polymerase Chain Reaction analysis. Results No overall difference in the PONI – A162G genotype and allele distribution was seen between cases and controls (all p > 0.05). There was, however, a difference in the A allele frequency when the bulbar onset group was compared to the controls (p = 0.03), but this significance disappeared after the Bonferroni correction. Conclusions The results did not show that the – A162G polymorphism of the PON1 gene is a risk factor of sALS in a Polish population; it may affect, however, bulbar onset of the disease.Wstęp i cel pracy Sporadyczna postać stwardnienia bocznego zanikowego (sSLA) jest chorobą zwyrodnieniową układu nerwowego, w której etiopatogenezie kluczową rolę odgrywają interakcje między czynnikami genetycznymi i środowiskowymi. Dotychczasowe badania wskazują na istnienie zależności między polimorfizmami genów PON1 i PON2 a ryzykiem wystąpienia sSLA. Celem pracy było zbadanie, czy istnieje związek między polimorfizmem – A162G miejsca promotorowego genu PON1 a ryzykiem wystąpienia sSLA w populacji polskiej. Materiał i metody Badanie przeprowadzono u 259 chorych, uktórych zgodnie z kryteriami El Escorial rozpoznano pewne lub prawdopodobne SLA (76 osób z postacią opuszkową, 183 osoby z postacią kończynową) oraz u 694 zdrowych ochotników, stanowiących grupę kontrolną dobraną pod względem wieku i płci. Polimorfizm genu PON1 był badany za pomocą reakcji łańcuchowej polimerazy DNA z analizą ilości produktu w czasie rzeczywistym. Wyniki Nie stwierdzono istotnych statystycznie różnic w rozkładzie genotypów i alleli genu PON1 między grupą chorych a grupą kontrolną (p > 0,05). Stwierdzono natomiast różnice w częstości występowania allela A między grupą chorych z postacią opuszkową w porównaniu z grupą kontrolną (p = 0,03), jednak po korekcie Bonferroniego wynik ten nie był już istotny statystycznie. Wnioski Wyniki naszego badania nie wykazały, aby polimorfizm – A162G genu PON1 był czynnikiem ryzyka sSLA w populacji polskiej, jednak sugerują, że może mieć znaczenie dla wystąpienia postaci opuszkowej tej choroby

Does apoptosis occur in amyotrophic lateral sclerosis? TUNEL experience from human Amyotrophic Lateral Sclerosis (ALS) tissues

The role that apoptosis plays in the pathogenesis of amyotrophic lateral sclerosis (ALS) is still unclear. From our autopsy samples, we have undertaken an effort to verify if apoptosis in ALS really occurs or if can at least be detected. The study was performed using TUNEL method for screening the apoptotic changes in the autopsy samples from 8 ALS cases compared with 16 control cases. No features of apoptosis (DNA cleavages) were noted in any of the investigated regions of the central nervous system in ALS cases as well as in controls. These preliminary results seem to support the reports, which deny the role of apoptosis in human ALS. The following investigations using additional methods will be performed for detection the apoptotic signals in ALS