V prispevku obravnavam odnos do ptičev na severovzhodni Islandiji v kontekstih, ko se te živali vpenjajo v razumevanje časovnosti in sezonskosti krajine. Ptice selivke s svojimi letnimi migracijskimi ...potmi in postanki v času gnezdilne sezone sodoločajo družbeno percipiranje letnega cikla, pa tudi vremena in podnebnih značilnosti ter vplivajo na nekatere nabiralske prakse. Pri tem izpostavljam predvsem vidika ptic kot znanilk pomladi ter (prevladujoče slušnega) zaznavanja ptic v kontekstu sezonskih ritmov in časovno zaznamovanih krajin. V družbeno življenje na severovzhodni Islandiji pa so vpete tudi ptice, ki ostajajo vse leto. Dotaknem se tudi sezonsko intoniranih dinamik, ki vključujejo relacije med več živalskimi vrstami. Različne razsežnosti percipiranja večvrstnega okolja se neposredno povezujejo s posameznikovim odnosom do krajine, hkrati pa pokažejo, da medvrstne odnose soustvarjajo tudi krajinsko in sezonsko niansirana znanja in izkušnje.
K nastanku tematske številke sta prispevali dve okoliščini. Prva je povečano antropološko zanimanje za življenjski prostor in druge vrste, ki bivajo v njem. Živali postajajo priljubljen medij in ...merilo človeških odnosov z naravnimi in družbenimi okolji. V zadnjih dveh desetletjih je izšla cela vrsta revij in zbornikov, posvečena vprašanjem pravic živali, njihovega umetniškega upodabljanja, reje in prehrane, organizacije vsakdanjega življenja, vzgoje ipd. Ontološki obrat je prinesel novo specializacijo – t. i. večvrstno etnografijo, ki preizprašuje osrednje mesto ljudi in predstavlja preučevanje neudomačenih (nekoristnih) ali neopaznih živalskih in rastlinskih vrst ter procesov. Izbrani naslov tematske številke revije Svetovi izpostavlja spremembe znanstvene paradigme in jih prenaša v slovensko in evropsko etnologijo ter socialno/kulturno antropologijo. Druga spodbuda za pričujočo tematsko številko je bila priložnostna in domača. V projektu Evropske noči raziskovalcev – Humanistika, to si ti!, ki ga na Univerzi v Ljubljani vodi Filozofska fakulteta, je leta 2022 osrednji tematski fokus povzemal slogan Človek, žival.
Background
Niemann Pick type C is an autosomal recessive lysosomal storage disorder caused by mutations in
NPC1
and
NPC2
genes. It is a neuro-visceral disease with a heterogeneous phenotype. Clinical ...features depend on the age at onset. Visceral manifestations are more prominent in the early onset (infantile) form, while neuro-psychiatric symptoms are more prominent in the late disease onset (juvenile and adult forms).
Methods
A total number of 150 patients have been screened for changes in
NPC1
and
NPC2
gene at the Neurology Clinic, University Clinical Centre of Serbia in the period 2012–2020. Clinical data were extracted for patients with biallelic mutations.
Results
Fifteen patients carried biallelic mutations in the
NPC1.
Out of eight different reported
NPC1
variants, four are novel (c.1204_1205TT>GC, p.F402A; c.2486T>G, p.L829R; c.2795+5 G>C; c.3722T>A, p.L1241*). The mean age at the disease onset was 20.3 ± 11.9 years with the average diagnostic delay of 7.7 ± 4.3 years. Movement disorders and psychiatric or cognitive disturbances were the most common initial symptoms (in 33% and 28% patients, respectively). The average age at the first neurological manifestation was 21 ± 12.0 years. At the last examination, eye movement abnormalities (vertical slow saccades or vertical supranuclear gaze palsy), and ataxia were present in all patients, while dystonia was common (in 78.6% of patients). Presence of c.2861C>T, p.S954L mutation in homozygous state was associated with older age at the neurological symptom onset.
Conclusions
Clinical findings were in line with the expected, but the diagnostic delay was common. We hypothesize that the presence of c.2861C>T, p.S954L mutation may contribute to the phenotype attenuation.
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by an expansion of CAG trinucleotide repeats in the HTT gene, which encodes the huntingtin protein KCI Citation ...Count: 0
Clinical-related risk factors to freezing of gait (FOG) in Parkinson's disease (PD) have been identified. Still, the influence of genetic variations on the FOG occurrence has been poorly studied thus ...far.
We aimed to evaluate the association of six selected polymorphisms of DRD2, ANKK1, and COMT genes with the FOG occurrence and explore the influence of ANNK1/DRD2 haplotypes on the onset of FOG in the group of PD patients.
PD patients (n = 234), treated with levodopa for at least two years, were genotyped for the rs4680 in COMT, rs6277, rs1076560, and rs2283265 in DRD2, and rs1800497 and rs2734849 polymorphisms in ANKK1 genes. FOG was evaluated by posing a direct question. In addition, a comprehensive set of clinical scales was applied to all patients.
FOG occurred in 132 (56.4%) PD patients in our cohort. Freezers were younger at PD onset, had longer disease duration, used higher levodopa daily doses and dopaminergic agents, and had higher motor and non-motor scales scores than non-freezers. FOG was more frequent among AA rs4680 COMT carriers than AG and GG rs4680 COMT carriers. Independent predictors of FOG were: disease duration of more than ten years, levodopa daily dose higher than 500 mg/day, motor status, and COMT AA genotype. AGGAA and GGAAA haplotypes were revealed as protective and vulnerability factors for FOG occurrence.
In addition to previously identified disease- and therapy-related risk factors, our results suggested a possible contribution of dopamine-related genes to the FOG occurrence.
•Clinical-related risk factors to freezing of gait (FOG) in Parkinson's disease (PD) have been identified.•The influence of genetic variations on the FOG occurrence has been poorly studied thus far.•Genetic variants in dopamine-related genes might play a role in the FOG occurrence.•AA rs4680 COMT might contribute to FOG development among PD patients.•AGGAA and GGAAA haplotypes could act as protective and vulnerability factors for FOG occurrence.
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