Asperger syndrome - case report

W pracy opisano przypadek 29-letniej chorej leczonej w 2006 roku na psychiatrycznym oddziale dziennym, u której wstępnie rozpoznano wrodzoną encefalopatię i schizofrenię dziecięcą. Celem pracy jest opisanie dotychczasowej historii choroby pacjentki oraz badań, które doprowadziły do postawienia ostatecznej diagnozy zaburzeń z kręgu autyzmu, a ściślej - zespołu Aspergera. Zdaniem autorów artykułu, zespół ten - rzadko rozpoznawany w wieku dorosłym - jest godny uwagi i przypomnienia. Objawy tego zaburzenia zmieniają się wraz z wiekiem, ale na wszystkich etapach rozwoju jest widoczne upośledzenie komunikacji, socjalizacji i wyobraźni, najczęściej prowadzące do izolacji i osamotnienia [3]. U opisywanej pacjentki wymienione wyżej cechy występowały od dzieciństwa i nie można ich przypisać deterioracji po epizodzie psychozy.The paper presents a case of a 29-year-old female patient who was treated in 2006 at the psychiatric day-care department admitted with the diagnosis of inborn encephalopathy and childhood schizophrenia. The aim of this paper is to look over the patient’s history which lead to the alternation of the initial diagnosis to Asperger syndrome. Asperger syndrome which is an uncommon diagnosis in adulthood is considered by the authors as notable and worth remembering. The manifestation of this disorder alters across life, nevertheless, at all stages of individual ’s development the problems with communication, socialization and imagination are observed leading to isolation and loneliness. The described case exhibited those characteristic features from childhood and those traits cannot be considered as deterioration due to psychosis

HPV-pozytywny rak jamy ustnej - etiologia i czynniki ryzyka.

HPV oral infection is one of a etiological risk factors of oral and pharyngeal squamous cell carcinoma development. HPV-positive OSCC seems to have better prognostics and to be more susceptible to treatment than cancer with major a etiological factors being alcohol or tobacco. Therefore, qualifying a patient to an appropriate OSCC group is vital. The aim of this work is to present HPV infection risk factors, as well as the implications of such infection. This should facilitate creating awareness in this matter among the patients.Zakażenie wirusem HPV w jamie ustnej jest jednym z czynników etiologicznych rozwoju raka płaskonabłonkowego jamy ustnej (OSCC) oraz gardła środkowego. HPV (+) OSCC związany z obecnością zakażenia wirusem HPV w jamie ustnej wydaje się wiązać z lepszym rokowaniem i odpowiedzią na leczenie niż rak, którego głównymi czynnikami etiologicznymi są alkohol czy tytoń. Dlatego też bardzo istotna jest kwalifikacja pacjenta do odpowiedniej grupy. Celem tej pracy jest przedstawienie czynników ryzyka infekcji wirusem HPV oraz implikacji, jakie niesie ze sobą zakażenie. Wiedza ta ułatwi lekarzom zwiększanie świadomości pacjentów

PROMAZINE IN THE TREATMENT OF DELUSIONAL PARASITOSIS

Delusional parasitosis (DP) is an uncommon and complex to treat form of delusional disorder, somatic type. The syndrome may occur in association with a number of psychotic disorders, such as schizophrenia, organic mental disorder, or even in dementia with behavioral and psychological symptoms. Evidence of efficacy of treatment options is weak and there is little known about the specific use of typical and atypical antipsychotics. We report on a case of primary DP in a 75-year-old Caucasian woman with a 3-year-long history of dermatological consultations due to unspecified complains who responded to the typical antipsychotic promazine. This case is unique in pharmacological respect as it presents the first reported DP treatment with promazine. It also raises the issue of efficacy and safety of low-potency typical antipsychotics in the elderly population

The Impact of Acetyl-CoA and Aspartate Shortages on the N-Acetylaspartate Level in Different Models of Cholinergic Neurons

N-acetylaspartate is produced by neuronal aspartate N-acetyltransferase (NAT8L) from acetyl-CoA and aspartate. In cholinergic neurons, acetyl-CoA is also utilized in the mitochondrial tricarboxylic acid cycle and in acetylcholine production pathways. While aspartate has to be shared with the malate–aspartate shuttle, another mitochondrial machinery together with the tricarboxylic acid cycle supports the electron transport chain turnover. The main goal of this study was to establish the impact of toxic conditions on N-acetylaspartate production. SN56 cholinergic cells were exposed to either Zn2+ overload or Ca2+ homeostasis dysregulation and male adult Wistar rats’ brains were studied after 2 weeks of challenge with streptozotocin-induced hyperglycemia or daily theophylline treatment. Our results allow us to hypothesize that the cholinergic neurons from brain septum prioritized the acetylcholine over N-acetylaspartate production. This report provides the first direct evidence for Zn2+-dependent suppression of N-acetylaspartate synthesis leading to mitochondrial acetyl-CoA and aspartate shortages. Furthermore, Zn2+ is a direct concentration-dependent inhibitor of NAT8L activity, while Zn2+-triggered oxidative stress is unlikely to be significant in such suppression

Protective effects of voltage-gated calcium channel antagonists against zinc toxicity in SN56 neuroblastoma cholinergic cells

One of the pathological site effects in excitotoxic activation is Zn2+ overload to postsynaptic neurons. Such an effect is considered to be equivalent to the glutamate component of excitotoxicity. Excessive uptake of Zn2+ by active voltage-dependent transport systems in these neurons may lead to significant neurotoxicity. The aim of this study was to investigate whether and which antagonists of the voltage gated calcium channels (VGCC) might modify this Zn2+-induced neurotoxicity in neuronal cells. Our data demonstrates that depolarized SN56 neuronal cells may take up large amounts of Zn2+ and store these in cytoplasmic and mitochondrial sub-fractions. The mitochondrial Zn2+ excess suppressed pyruvate uptake and oxidation. Such suppression was caused by inhibition of pyruvate dehydrogenase complex, aconitase and NADP-isocitrate dehydrogenase activities, resulting in the yielding of acetyl-CoA and ATP shortages. Moreover, incoming Zn2+ increased both oxidized glutathione and malondialdehyde levels, known parameters of oxidative stress. In depolarized SN56 cells, nifedipine treatment (L-type VGCC antagonist) reduced Zn2+ uptake and oxidative stress. The treatment applied prevented the activities of PDHC, aconitase and NADP-IDH enzymes, and also yielded the maintenance of acetyl-CoA and ATP levels. Apart from suppression of oxidative stress, N- and P/Q-type VGCCs presented a similar, but weaker protective influence. In conclusion, our data shows that in the course of excitotoxity, impairment to calcium homeostasis is tightly linked with an excessive neuronal Zn2+ uptake. Hence, the VGCCs types L, N and P/Q share responsibility for neuronal Zn2+ overload followed by significant energy-dependent neurotoxicity. Moreover, Zn2+ affects the target tricarboxylic acid cycle enzymes, yields acetyl-CoA and energy deficits as well

Any Role of PIK3CA and PTEN Biomarkers in the Prognosis in Oral Squamous Cell Carcinoma?

Oral squamous cell carcinoma (OSCC) accounts for 95% of the lesions in the oral cavity. Despite development in OSCC management, the outcome is still unsatisfactory. Identification of new therapies in OSCC is urgently needed. One objective of such treatment may be a signaling pathway of phosphatidylinositol 3-kinase. The study group included 92 patients treated for OSCC at the University Clinical Centre in Gdańsk, Poland. Study was performed on formalin-fixed paraffin-embedded samples from primary OSCC. Phosphatidylinositol-4,5-bisphosphate 3-kinase (PIK3CA) and phosphatase and tensin homolog encoded on chromosome 10 (PTEN) protein expression was assessed by immunohistochemistry (IHC). PIK3CA gene copy number was analyzed using chromogenic and silver in situ hybridization where molecular probes are marked by chromogens and silver ions. PIK3CA IHC H-score ≥ 70 was found in 51.65% patients, and loss of PTEN protein was noticed in 31.46% cases. PIK3CA amplification was detected in 5 tumors. In the case of PTEN protein expression, there was an inverse correlation with the T stage of the primary tumor (r = −0.243) and positive correlation with a 5-year survival (r = 0.235). The number of copies of the PIK3CA gene was associated with the tumor grading (r = 0.208). The present study shows that loss of PTEN protein and the grading (p = 0.040), distant metastases (p = 0.033), smoking (p = 0.016), and alcohol abuse (p = 0.042) were prognostic factors for the survival of patients with OSCC. In contrast, the presence of amplification and OSCC on the floor of the mouth resulted in a nearly six-fold increase in the risk of shortening survival (p = 0.037). Our finding suggests a potential prognostic significance of PTEN loss and PIK3CA amplification in OSCC. Future studies are needed to confirm our results

VISTA H-Score Is Significantly Associated with a 5-Year DFS Rate in Oral Squamous Cell Carcinoma

Oral squamous cell carcinoma (OSCC) is the most common type of oral cancer in the world. Despite its prevalence, it is often recognized in advanced stages (III or IV) when it has already spread to local lymph nodes. In this study, we investigate the V-domain Ig suppressor of T cell activation (VISTA) as a potential prognostic factor in OSCC. Tissue samples were collected from 71 oral squamous cell carcinoma patients to determine protein expression levels (using immunochemistry and the semi-quantitative H-score method). Moreover, RT-qPCR was additionally performed in 35 patients. Clinical factors in our cohort study had no impact on VISTA expression. However, VISTA expression is largely correlated with Il-33 levels in tumor cells and lymphocytes and with PD-L1 in tumor cells. The impact of VISTA expression on overall survival (OS) is rather limited, but in the case of a 5-year survival rate, a significant association has been proven. VISTA seems to be a rather weak clinicopathological marker but needs further evaluation in the context of survival. In addition, the potential of VISTA combination with Il-33 or PD-L1 should be further investigated in OSCC