The hand is a unique structure in human body performing complex activities of daily life making it prone to injuries. While operating on zone VI extensor tendon injury, a surprising entity was observed. The extensor digitorum to the right index finger was absent. This is an extremely rare entity in the literature. Also, all previous studies on the extensor digitorum are cadaveric. Our findings are first of its kind intraoperative, incidental, and confirmed on MRI. Thus, it becomes a case report of special worth mentioning in literature.
- Klíčová slova
- extensor digitorum communis,
- MeSH
- anatomická variace MeSH
- dospělí MeSH
- lidé MeSH
- poranění prstů ruky * chirurgie diagnóza MeSH
- poranění šlachy chirurgie diagnóza MeSH
- prsty ruky abnormality chirurgie diagnostické zobrazování MeSH
- šlachy * abnormality chirurgie diagnostické zobrazování MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
PURPOSE: The accessory bones around the elbow are very rare variant structures, present in approximately 0.7% of cases. They can cause diagnostic problems and can be mistaken for pathological structures, especially when pain and limitation of elbow movements are present and a trauma can be traced in the patient's history. They are of different nature, either presenting within muscle tendons as sesamoids (brachialis and triceps brachii muscles) or presenting intra-articularly probably as separated or accessory ossification centres. The least common is the os supratrochleare anterius. METHODS: We present a case of a young male, featuring chronic blocking and 20° limited flexion of his right elbow, which bothered him during his occupation as a locksmith. In history, he suffered minor trauma to the elbow 20 years ago. X-ray and CT showed a large ossicle in the coronoid fossa of the humerus. RESULTS: The ossicle was surgically extracted in small pieces. The patient left satisfied with no mention of complaints. CONCLUSION: The os supratrochleare anterius is a very rare accessory bone of the elbow, located in the coronoid fossa of the humerus which can mimic many pathological states, and limit movements and causing pain around the elbow.
Awareness of unique path of the superficial branch of the radial nerve and its unusual sensory distribution can help avoid potential diagnostic confusion. We present a unique case encountered during a routine dissection of a Central European male cadaver. An unusual course of the superficial branch of the radial nerve was found in the right forearm, where the superficial branch of the radial nerve originated from the radial nerve distally, within the supinator canal, emerged between the extensor digitorum and abductor pollicis longus muscles and supplied the second and a radial half of the third digit, featuring communications with the lateral antebrachial cutaneous nerve and the dorsal branch of the ulnar nerve. Due to dorsal emerging of the superficial branch of the radial nerve the dorsal aspect of the thumb was innervated by the lateral antebrachial cutaneous nerve. To our best knowledge such variation of the superficial branch of the radial nerve has never been reported before. This variation dramatically changes aetiology and manifestation of possible entrapment syndromes which clinicians should be aware of.
- MeSH
- anatomická variace * MeSH
- disekce MeSH
- kosterní svaly * inervace abnormality MeSH
- lidé MeSH
- mrtvola * MeSH
- nervus radialis * anatomie a histologie abnormality MeSH
- předloktí * inervace abnormality MeSH
- prsty ruky * inervace MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
f-statistics have emerged as a first line of analysis for making inferences about demographic history from genome-wide data. Not only are they guaranteed to allow robust tests of the fits of proposed models of population history to data when analyzing full genome sequencing data-that is, all single nucleotide polymorphisms (SNPs) in the individuals being analyzed-but they are also guaranteed to allow robust tests of models for SNPs ascertained as polymorphic in a population that is an outgroup in a phylogenetic sense to all groups being analyzed. True "outgroup ascertainment" is in practice impossible in humans because our species has arisen from a substructured ancestral population that does not descend from a homogeneous ancestral population going back many hundreds of thousands of years into the past. However, initial studies suggested that non-outgroup-ascertainment schemes might produce robust enough results using f-statistics, and that motivated widespread fitting of models to data using non-outgroup-ascertained SNP panels such as the "Affymetrix Human Origins array" which has been genotyped on thousands of modern individuals from hundreds of populations, or the "1240k" in-solution enrichment reagent which has been the source of about 70% of published genome-wide data for ancient humans. In this study, we show that while analyses of population history using such panels work well for studies of relationships among non-African populations and one African outgroup, when co-modeling more than one sub-Saharan African and/or archaic human groups (Neanderthals and Denisovans), fitting of f-statistics to such SNP sets is expected to frequently lead to false rejection of true demographic histories, and failure to reject incorrect models. Analyzing panels of SNPs polymorphic in archaic humans, which has been suggested as a solution for the ascertainment problem, has limited statistical power and retains important biases. However, by carrying out simulations of diverse demographic histories, we show that bias in inferences based on f-statistics can be minimized by ascertaining on variants common in a union of diverse African groups; such ascertainment retains high statistical power while allowing co-analysis of archaic and modern groups.
- MeSH
- Afričané * genetika MeSH
- biologická variabilita populace genetika MeSH
- černoši genetika MeSH
- demografie * dějiny MeSH
- fylogeneze * MeSH
- genotyp MeSH
- jednonukleotidový polymorfismus * genetika MeSH
- lidé MeSH
- mapování chromozomů MeSH
- neandertálci genetika MeSH
- statistické modely MeSH
- zkreslení výsledků (epidemiologie) MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
BACKGROUND: Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-lethal but dominant cardiomyopathy. The genetic diagnostics of ATAD3A-related disorders is also challenging due to three paralogous genes in the ATAD3 locus, making it a difficult target for both sequencing and CNV analyses. RESULTS: Here we report four individuals from two families with compound heterozygous p.Leu77Val and exon 3-4 deletion in the ATAD3A gene. One of these patients was characterized as having combined OXPHOS deficiency based on decreased complex IV activities, decreased complex IV, I, and V holoenzyme content, as well as decreased levels of COX2 and ATP5A subunits and decreased rate of mitochondrial proteosynthesis. All four reported patients shared a strikingly similar clinical picture to a previously reported patient with the p.Leu77Val variant in combination with a null allele. They presented with a less severe course of the disease and a longer lifespan than in the case of biallelic loss-of-function variants. This consistency of the phenotype in otherwise clinically heterogenous disorder led us to the hypothesis that the severity of the phenotype could depend on the severity of variant impact. To follow this rationale, we reviewed the published cases and sorted the recessive variants according to their impact predicted by their type and the severity of the disease in the patients. CONCLUSION: The clinical picture and severity of ATAD3A-related disorders are homogenous in patients sharing the same combinations of variants. This knowledge enables deduction of variant impact severity based on known cases and allows more accurate prognosis estimation, as well as a better understanding of the ATAD3A function.
Práce stručně shrnuje výsledky studií pracovní skupiny EFLM o biologických variabilitách - EuBIVAS. Jsou popsány metody výpočtu intra a inter individuálních variabilit. Předmětem sdělení jsou dále aplikace biologických variabilit pro stanovení kritérií analytické kvality (kalkulace hodnot APS a nejistot měření) a pro stanovení hodnot významnosti změn dvou následných měření (RCV) jako kritéria schopnosti monitorovat průběh terapie u pacientů. Je popsána databáze EFLM biologických variabilit a trendy použití výsledků měření klinických laboratoří k personalizaci a individualizaci jejich interpretací (individuální referenční intervaly, přístupy machine learning).
The publication deals with a brief summarizing the results of a working group of EFLM for biological variation studies (Eu- BIVAS). There are described namely calculations of within- and between subject biological variation and their applications for calculation of analytical quality criteria (APS values) and for calculation of significance of reference changes values as potency for monitoring of the patient´s state. We described EFLM biological variation database. We also show the necessity of biological variation for personalized medicine and individualized approach to laboratory results (individual reference intervals, machine learning).
Wilt (Fusarium oxysporum f. sp. lentis; Fol) is one of the major diseases of lentil worldwide. Two hundred and thirty-five isolates of the pathogen collected from 8 states of India showed substantial variations in morphological characters such as colony texture and pattern, pigmentation and growth rate. The isolates were grouped as slow (47 isolates), medium (118 isolates) and fast (70 isolates) growing. The macroconidia and microconidia (3.0-77.5 × 1.3-8.8 μm for macroconidia and 1.8-22.5 × 0.8-8.0 μm for microconidia for length × width) were variable in size and considering the morphological features, the populations were grouped into 12 categories. Seventy representative isolates based on their morphological variability and place of origin were selected for further study. A set of 10 differential genotypes was identified for virulence analysis and based on virulence patterns on these 10 genotypes, 70 Fol isolates were grouped into 7 races. Random amplified polymorphic DNA (RAPD), universal rice primers (URPs), inter simple sequence repeats (ISSR) and sequence-related amplified polymorphism (SRAP) were used for genetic diversity analysis. URPs, ISSR and SRAP markers gave 100% polymorphism while RAPD gave 98.9% polymorphism. The isolates were grouped into seven clusters at genetic similarities ranging from 21 to 80% using unweighted paired group method with arithmetic average analysis. The major clusters include the populations from northern and central regions of India in distinct groups. All these three markers proved suitable for diversity analysis, but their combined use was better to resolve the area specific grouping of the isolates. The sequences of rDNA ITS and TEF-1α genes of the representative isolates were analysed. Phylogenetic analysis of ITS region grouped the isolates into two major clades representing various races. In TEF-1α analysis, the isolates were grouped into two major clades with 28 isolates into one clade and 4 remaining isolates in another clade. The molecular groups partially correspond to the lentil growing regions of the isolates and races of the pathogen.
In motor functional neurological disorders (mFND), relationships between interoception (a construct of high theoretical relevance to its pathophysiology) and neuroanatomy have not been previously investigated. This study characterized white matter in mFND patients compared to healthy controls (HCs), and investigated associations between fiber bundle integrity and cardiac interoception. Voxel-based analysis and tractography quantified fractional anisotropy (FA) in 38 mFND patients compared to 38 HCs. Secondary analyses compared functional seizures (FND-seiz; n = 21) or functional movement disorders (n = 17) to HCs. Network lesion mapping identified gray matter origins of implicated fiber bundles. Within-group mFND analyses investigated relationships between FA, heartbeat tracking accuracy and interoceptive trait prediction error (discrepancies between interoceptive accuracy and self-reported bodily awareness). Results were corrected for multiple comparisons, and all findings were adjusted for depression and trait anxiety. mFND and HCs did not show any between-group interoceptive accuracy or FA differences. However, the FND-seiz subgroup compared to HCs showed decreased integrity in right-lateralized tracts: extreme capsule/inferior fronto-occipital fasciculus, arcuate fasciculus, inferior longitudinal fasciculus, and thalamic/striatum to occipital cortex projections. These alterations originated predominantly from the right temporoparietal junction and inferior temporal gyrus. In mFND patients, individual differences in interoceptive accuracy and interoceptive trait prediction error correlated with fiber bundle integrity originating from the insula, temporoparietal junction, putamen and thalamus among other regions. In this first study investigating brain-interoception relationships in mFND, individual differences in interoceptive accuracy and trait prediction error mapped onto multimodal integration-related fiber bundles. Right-lateralized limbic and associative tract disruptions distinguished FND-seiz from HCs.
- MeSH
- bílá hmota * diagnostické zobrazování patologie patofyziologie MeSH
- biologická variabilita populace fyziologie MeSH
- dospělí MeSH
- interocepce fyziologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mozková kůra MeSH
- pohybové poruchy * diagnostické zobrazování patologie patofyziologie MeSH
- psychologická anticipace fyziologie MeSH
- šedá hmota * diagnostické zobrazování patologie patofyziologie MeSH
- srdeční frekvence fyziologie MeSH
- zobrazování difuzních tenzorů * MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
The pregnane X receptor (PXR, encoded by the NR1I2 gene) is a ligand-regulated transcription factor originally described as a master regulator of xenobiotic detoxification. Later, however, PXR was also shown to interact with endogenous metabolism and to be further associated with various pathological states. This review focuses predominantly on such aspects, currently less covered in literature, as the control of PXR expression per se in the context of inter-individual differences in drug metabolism. There is growing evidence that non-coding RNAs post-transcriptionally regulate PXR. Effects on PXR have especially been reported for microRNAs (miRNAs), which include miR-148a, miR-18a-5p, miR-140-3p, miR-30c-1-3p and miR-877-5p. Likewise, miRNAs control the expression of both transcription factors involved in PXR expression and regulators of PXR function. The impact of NR1I2 genetic polymorphisms on miRNA-mediated PXR regulation is also discussed. As revealed recently, long non-coding RNAs (lncRNAs) appear to interfere with PXR expression. Reciprocally, PXR activation regulates non-coding RNA expression, thus comprising another level of PXR action in addition to the direct transactivation of protein-coding genes. PXR expression is further controlled by several transcription factors (cross-regulation) giving rise to different PXR transcript variants. Controversies remain regarding the suggested role of feedback regulation (auto-regulation) of PXR expression. In this review, we comprehensively summarize the miRNA-mediated, lncRNA-mediated and transcriptional regulation of PXR expression, and we propose that deciphering the precise mechanisms of PXR expression may bridge our knowledge gap in inter-individual differences in drug metabolism and toxicity.
- MeSH
- biologická variabilita populace * MeSH
- biotransformace MeSH
- farmakogenetika MeSH
- farmakogenomické varianty * MeSH
- fenotyp MeSH
- genetická transkripce * MeSH
- genotyp MeSH
- lidé MeSH
- mikro RNA genetika metabolismus MeSH
- posttranskripční úpravy RNA * MeSH
- pregnanový X receptor genetika metabolismus MeSH
- RNA dlouhá nekódující genetika metabolismus MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
