187,115 research outputs found
Protein Tyrosine phosphatase receptor type C (CD45) C77G mutation and susceptibility to multiple sclerosis, autoimmune and infectious diseases
No full textThe protein tyrosine phosphatase receptor type C (PTPRC), also known as CD45 molecule, is a glycoprotein expressed on the cell surface of all hematopoietic cells except erythrocytes. Functionally, PTPRC is an immunomodulatory gene required for the efficient development of the immune system where it is involved in antigen receptor signal transduction. Several single nucleotide polymorphisms of the PTPRC gene have been described. In humans, the most extensively reported PTPRC polymorphism is the C77G point mutation in exon 4, and this nucleotide transversion causes abnormal PTPRC splicing, thus resulting in an altered expression pattern of isoforms with enhanced expression of high-molecular-weight isoforms (CD45RA, CD45RB, and CD45RC) and decreased low-molecular-weight CD45RO molecules. This altered expression pattern of isoforms can have significant effects on immune function, autoimmunity, and viral infections. Previous epidemiological studies have investigated the relationship between the C77G variant and several diseases. An association between this polymorphism and susceptibility to multiple sclerosis (MS) has been reported in some research papers, thereby suggesting a possible etiologic role of PTPRC in the development of this disease. Subsequent studies performed in other populations, including family-based and case-control studies, could not replicate this relationship between MS and the C77G point mutation, thus suggesting that more statistically powered studies are needed to confirm such an association or not. Furthermore, C77G polymorphism has been suggested to contribute to the development of some infective or autoimmune disorders. As individuals with C77G polymorphism may have increased susceptibility to HIV-1 infection, the frequency of this variant has been investigated in hepatitis C, histiocytosis, and autoimmune diseases, with contrasting results. Although PTPRC represents one of the modifier genes of human autoimmunity, further studies are needed to explain the exact role of PTPRC gene C77G variant in the contribution to the alteration of immune responses in infectious and autoimmune diseases
Paraphilic behaviours in a parkinsonian patient with hedonistic homeostatic dysregulation
No full textHedonistic homeostatic dysregulation (HHD) is a well-known neuropsychiatric complication described in patients with Parkinson's disease (PD), characterized by misuse of and addiction to dopaminergic drugs (Giovannoni et al., 2000). Previous reports have indicated HHD in approximately 3.4% of PD patients, more frequently in males with early onset of the disease (Pezzella et al., 2005). Copyright © 2005 CINP
Portraits of Ludo Waltman, the Derek de Solla Price Medal Winner
No full textPortraits of Ludo Waltman, the Derek de Solla Price Medal Winner</p
Gender differences in olfactory dysfunctions in Sardinian patients affected by Parkinson’s disease
No full textIntroduction: In the last years, several studies have identified the presence of gender-related differences
in the burden of non-motor symptoms in patients affected by Parkinson’s disease (PD) [1-2]. In this
context, the role of specific gender-related patterns in olfactory dysfunctions of PD patients has not been
clearly investigated.
Objective: To investigated the presence of specific gender-related patterns in olfactory dysfunctions
among Sardinian PD patients, compared with age and sex-matched healthy controls.
Methods: Fifty-nine male and thirty-two female PD patients with a similar overall age and disease
characteristics were recruited. Olfactory function was evaluated with the odor detection threshold,
the discrimination, the identification tests of the Sniffin’ Sticks (a psychophysical tool developed by
Hummel in 1997 and widely validated) and their sum (TDI score). Cognition was evaluated with
Montreal Cognitive Assessment (MoCA). Modified Hoehn and Yahr scale and UPDRS were used to
assess motor symptoms. Forty-nine healthy controls matched for age were also enrolled.
Results: Male PD patients showed a significant greater impairment compared to female PD patients in
odor identification (7.4 ± 3.6 vs 9.1 ± 2,7; P ≤ 0.01) and TDI score (17.4 ± 7.7 vs 21.5 ± 6.0;P ≤ 0.01),
while a non significant reduction in male PD patients was noted also in the odor detection threshold
and the discrimination. MOCA mean values among male and female PD were similar (21.4± 5.2 vs
21.4 ± 5.9;P not significant). No gender differences were identified in male and female healthy controls
in any olfactory characteristic of the Sniffin’ Sticks.
Conclusions: We identified a specific gender difference in olfactory dysfunctions in PD patients, with
a more severe impairment in male PD patients with abnormal odor identification and decreased TDI
score. These findings highlighted the possible role of gender differences in the development of associated
PD non motor symptoms.
References
[1] Solla et al. J Neurol Sci. 2012 Dec 15;323(1-2):33-9
[2] Picillo et al. J Neurol. 2013 Nov;260(11):2849-
Fluctuating Cotard syndrome in a patient with advanced Parkinson disease
No full textIntroduction: Nonmotor fluctuations of psychiatric symptoms in patients suffering from Parkinson disease (PD) represent a very disabling condition, which may seriously interfere with the quality of life of patients and caregivers. In this regard, these disturbances are present with a higher frequency in advanced PD patients with associated motor complications and can appear both in "on" and in "off" period. Here we report on a case of fluctuating Cotard syndrome clearly related to "wearing-off" deterioration and responsive to levodopa treatment in a patient affected by advanced PD. Case Report: A 76-year-old woman presented with a 13-year history of PD. Her caregivers reported that, in the last 2 months, she has developed a sudden onset of nihilistic delusion (Cotard syndrome), mainly during the "wearing-off" condition and associated with end of dose dyskinesias and akathisia. As Cotard syndrome clearly improved with the administration of levodopa, the patient was successfully treated changing the levodopa schedule with the shortening of intervals between levodopa intakes in small doses. Conclusions: Both the appearance of the Cotard syndrome in this patient during the "off" state and the subsequent improvement of psychotic symptoms after levodopa administration strongly suggest an important correlation with the dopaminergic dysregulation. This finding suggests that dopaminergic deficit might play a key factor in the development of Cotard syndrome
Pazo Labrador (Alberto José), Santos Solla (José Manuel), 1990. — Bibliografîa de Xeografia de Galicia.
No full textBouhier Abel. Pazo Labrador (Alberto José), Santos Solla (José Manuel), 1990. — Bibliografîa de Xeografia de Galicia.. In: Norois, n°157, Janvier-Mars 1993. p. 192
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