Tolosa-Hunt syndrome: a review of diagnostic criteria based on a case series.

Purpose: Tolosa-Hunt syndrome (THS) is a rare cause of painful ophtalmoplegia with different clinical manifestations. It is described as a unilateral periorbital headache with concomitant dysfunction of at least one out of the IIIrd, IVth and VIth cranial nerves due to the granulomatous inflammation of periorbital structures, but no underlying cause has been established. Case description: We present six patients referred to the Neurology Department due to a unilateral headache with ipsilateral paresis of at least one cranial nerve responsible for eye movements. The THS diagnostic criteria of the International Headache Disorders Classification (ICHD-3) were applied and analysed. Few patients had atypical clinical manifestations according to these criteria. Comment: Diagnosing THS may prove very challenging. There is a lack of specific markers for the disorder, whereas diagnostic criteria leave a wide area for misdiagnosis. The diagnostic approach should be focused on the exclusion of other pathologies because typical steroid therapy may prove fatal in otherwise benign cases.

The Microbiota-Gut-Brain Axis as a Key to Neuropsychiatric Disorders: A Mini Review.

The central nervous system (CNS) is closely related to the gastrointestinal tract, mainly through regulating its function and homeostasis. Simultaneously, the gut flora affects the CNS and plays an essential role in the pathogenesis of neurologic and neuropsychological disorders such as Parkinson's and Alzheimer's disease, multiple sclerosis, amyotrophic lateral sclerosis or autism spectrum disorder. The population of gut microorganisms contains more than one billion bacteria. The most common are six phyla: Proteobacteria, Actinomyces, Verucomicrobia, Fusobacteria, and dominant Bacteroides with Firmicutes. The microbiota-gut-brain axis is a bidirectional nervous, endocrine, and immune communication between these two organs. They are connected through a variety of pathways, including the vagus nerve, the immune system, microbial metabolites such as short-chain fatty acids (SCFAs), the enteric nervous system, and hormones. Age, diet, antibiotics influence the balance of gut microorganisms and probably lead to the development of neurodegenerative disorders. In this article, a review is presented and discussed, with a specific focus on the changes of gut microbiota, gut-brain axis, related disorders, and the factors that influence gut imbalance.

[Correlations between haplogroup membership and Y-STR haplotype as a potential measure of quality control in forensic examinations]. / Zaleznosci pomiedzy przynaleznoscia haplogrupowa a haplotypem Y-STR jako potencjalny element kontroli poprawnosci analiz w medycynie sadowej.

A correlation between particular Y-STR alleles from the so-called "minimal haplotype" and haplogroup membership of the Y chromosome was tested. We collected 146 Y chromosomes from haplogroups R1*, R1a1* and 1* and estimated the frequency of Y-STR alleles in each haplogroup. We then used different algorithms to assign a haplogroup to a haplotype, and tested their accuracy. Generally, a method based on calculation of haplotype similarity using the highest allele frequencies as modal values and assigning a score to each locus based on a ratio of allele frequencies turned out to give the most precise matches. However, using the same rules for Y chromosomes from other populations did not allow for precise estimation of their Y chromosome haplogroup frequencies. Possible explanations for this failure include interpopulation differences in haplotypes correlated with particular haplogroups, as well as a relatively small number of chromosomes analyzed. Potential uses for the presented method in forensics were also described.

[Phylogeographic approach in the interpretation of mitochondrial DNA sequencing results in forensics]. / Zastosowanie analizy filogeograficznej w interpretacji wyników sekwencjonowania mitochondrialnego DNA dla celów sadowych.

In recent years, forensic mitochondrial DNA analysis has been undertaken from an evolutionary perspective. In particular, the phylogeographic approach based on a phylogenetic analysis of the spatial distribution of mitochondrial haplotypes and haplogroups appears to be a useful tool in the interpretation of identification cases. In this study, the phylogeographic approach has been employed in the analysis of three difficult forensic cases, where single nucleotide, homoplasmic differences were found between the reference and evidentiary haplotypes. mtDNA sequence variation has been examined by the control region (HVS I and HVS II) direct sequencing. Additionally, in order to clarify the subhaplogroup status of the selected haplotypes, DNA sequences of entire mitochondrial genomes obtained from two samples representing J1b subclade have been analyzed.

Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay.

Many well-defined mutations in the gene for the catalytic subunit of polymerase gamma (POLG1) have been found to be associated with disease, whereas the status of several mutations remains unresolved due to the conflicting reports on their frequencies in populations of healthy individuals. Here, we have developed a highly sensitive, real-time allelic discrimination assay enabling detection of the Y831C mutation in the POLG1 gene. The Y831C mutation is present in the Polish population at a frequency of 2.25%. The new assay is well suited to both extensive population studies and molecular diagnostics of POLG1.