The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain.

Cerebral cavernous malformations (CCMs) are relatively common in the central nervous system. They occur in two forms, sporadic and familial (FCCMs). Three genes are recognized to be associated with FCCM, including CCM1, CCM2, and CCM3, the latter also called PDCD10. In this article, we describe a single-nucleotide variant in the PDCD10 gene in a 23-year-old Polish female with CCM. The NM_007217.4 (PDCD10): c.395+1G>A variant destroys the canonical splice donor site following exon 6. This is the first reported genetically characterized case of CCM (FCCM) in Poland.

HYPERAMMONAEMIA AND COGNITIVE IMPAIRMENT IN EPILEPSY PATIENTS TREATED WITH VALPROIC ACID - PRELIMINARY STUDY.

OBJECTIVE: The aim: To determine whether VPA pharmacotherapy, mainly in the group of patients using subtherapeutic doses of VPA, could contribute to the occurrence of cognitive impairment. PATIENTS AND METHODS: Materials and methods: The study involved 14 patients: six women and eight men, aged 24 - 77 years (mean SD ± - 52.36±13.71) diagnosed with epilepsy in accordance with the ILAE criteria (International League Against Epilepsy), in whom the main clinical complaint, in addition to poor control of epileptic seizures, were impaired concentration, attention and memory impairment. RESULTS: Results: Mild cognitive impairment - MCI was diagnosed in 4 patients (28.57%) (3 with elevated ammonia levels, 1 without), in 1 patient (7.14%) there was a mild level of dementia. In only one MCI case, elevated serum concentrations of valproic acid were also recorded. It is very important to highlight that cognitive impairment has never been diagnosed before (prior to VPA therapy) in this group. Of these 5 patients, in four cases, after discontinuation of the drug, an improvement in the clinical condition was achieved. In a patient with mild level dementia, the termination of therapy did not give a similar effect. This proves the possibility of other mechanisms responsible for generating these sometimes irreversible disorders. CONCLUSION: Conclusions: Regardless of the dose and concentration of ammonia in blood serum of patients diagnosed with epilepsy, VPA therapy may cause various, significant dysfunctions that significantly impair quality of life.

A case of reversible aphasia-type speech disorders after treatment with quetiapine. / Odwracalna afazja po leczeniu kwetiapina ­ opis przypadku.

The study presents a case of a 64-year-old patient with diagnosed Parkinson's disease and coexisting REM sleep disorders (RBD) confirmed in a polysomnographic examination. In this patient, the use of supplementary therapy - quetiapine (50mg/daily) - due to psychotic disorders, resulted in speech disorders with sensory-motor mixed aphasia type. Aphasia occurred on the fourth day after beginning the treatment with atypical neuroleptic. In MRI examination of the head, no "fresh" cerebral ischemia was found. No focal status epilepticus was reported in the video EEG trial. Results. Complete cure occurred after discontinuation of quetiapine administration. Conclusions. Due to the above, the side-effects of quetiapine treatment were assumed as the cause of focal neurological disorders.

Treatment of reverse obliquity intertrochanteric fractures.

BACKGROUND: Unstable intertrochanteric fractures of the hip, especially reverse oblique fractures are a serious problem in traumatology, as there is no standard method of treatment and inadequate treatment carries a significant complication rate. To assess the surgical treatment results of reverse oblique trochanteric fractures. MATERIAL/METHODS: Between 1997-2010, 389 patients with intertrochanteric fractures were treated. 28 (7.1%) of these fractures classified as reverse oblique. This group of patients consisted of 10 men and 18 women, aged 24 to 98 years. All patients underwent surgery. Following treatment options were used; dynamic hip screw (DHS)--10 patients, proximal femoral nail (PFN)--13 patients, dynamic condylar screw (DCS)--2 patients, angular plate--4 patients, UFN spiral blade--1 patient, bone plate--1 patient. Since 2000, all patients with reverse oblique fractures were treated with a PFN. RESULTS: Seventeen (60.7%) hips healed without complications. In three patients fixation was unsuccessful. The first patient, who was unhealed because of non-union, underwent three types of fixation (DHS, DCS and PFN) before finally receiving a total revision cement prosthesis. The second patient suffered a re-fracture following angular plate procedure and fixation was changed into a DHS. The third patient, treated with DCS, healed with a varus deformity. Twelve out of thirteen PFN-treated hips healed without complications. Six patients died a few years after surgery due to unrelated causes. CONCLUSIONS: The operative treatment of reverse oblique fractures using intramedullary fixation carries fewer complications than internal extramedullary fixation.