Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this study was to identify copy number variants (CNVs) in genes known to cause CPHD and to determine their structure. We analyzed 70 CPHD patients from 64 families. Deletions were found in three Turkish families and one family from northern Iraq. In one family we identified a 4.96 kb deletion that comprises the first two exons of POU1F1. In three families a homozygous 15.9 kb deletion including complete PROP1 was discovered. Breakpoints map within highly homologous AluY sequences. Haplotype analysis revealed a shared haplotype of 350 kb among PROP1 deletion carriers. For the first time we were able to assign the boundaries of a previously reported PROP1 deletion. This gross deletion shows strong evidence to originate from a common ancestor in patients with Kurdish descent. No CNVs within LHX3, LHX4, HESX1, GH1 and GHRHR were found. Our data prove multiplex ligation-dependent probe amplification to be a valuable tool for the detection of CNVs as cause of pituitary insufficiencies and should be considered as an analytical method particularly in Kurdish patients.

• MeSH
• dítě MeSH
• dospělí MeSH
• haplotypy * MeSH
• homeodoménové proteiny genetika   MeSH
• hypopituitarismus genetika   MeSH
• lidé MeSH
• mladiství MeSH
• předškolní dítě MeSH
• rodokmen MeSH
• sekvenční delece * MeSH
• transkripční faktor Pit-1 genetika   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• homeodoménové proteiny MeSH
• POU1F1 protein, human MeSH Prohlížeč
• Prophet of Pit-1 protein MeSH Prohlížeč
• transkripční faktor Pit-1 MeSH

"Herniation pit" is a benign bone affection described first in 1982 by Michael J. Pitt et al. It is located typically in the proximal anterior and upper quadrant of the neck of the femur and develops as a result of the mechanical action of pressure of the adjacent articular capsule and synovialis. On the X-ray picture it is seen as a lighter spot which is relatively well defined, surrounded by a narrow margin of sclerotic bone; it is either round or oval and usually not more than 1 cm in diameter. In the authors' group of 100 patients selected at random from patients who had an X-ray picture of the hip joint taken during the last three years for different indications a herniation pit was found in six patients--4 women and 2 men. In one patient the finding was bilateral. This result is practically consistent with the 5% in the normal adult population, as reported in the world literature. In clinical practice the herniation pit is in the majority asymptomatic and is only an incidental finding during X-ray examination of patients with unexplained pain in the hip joint. Its importance is thus above all that it may be mistaken for other usually oncological bone affections such as osteoid, osteoma, Brodie's abscess, intraosseous ganglion or skeletal metastases of carcinoma.

• MeSH
• dospělí MeSH
• krček femuru diagnostické zobrazování   MeSH
• lidé MeSH
• nemoci kostí diagnostické zobrazování   MeSH
• radiografie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

An optic disc pit is a rare congenital anomaly of the optic nerve disc. It occurs rarely, and in case of its bilateral occurance, it can be caused by an autosomal dominant inheritance pattern. Ophthalmoscopically, the disc pit appears as an ovoid depression of the optic nerve disc. When identified unilaterally, the optic nerve disc is usually larger than the disc of the other healthy eye. Optic disc pits can be located anywhere in optic disc. Moreover, when located in the temporal margin, they can be accompanied by a maculopathy. The latest therapeutic possibilities include the retinal laser photocoagulation and pars plana vitrectomy, however the prognosis quoad visum neverthelles remains poor. This report deals with bilateral occurance of the optic disc pit in case of 9-year-old asymptomatic patient. The patient had been transferred to our ophthalmology department with suspected retinal detachment. Following the examination, the optic disc pit was diagnosed. The patient remains subject to further observation, however, owing to his current satisfactory vision without the need for a surgical intervention.

• Klíčová slova
• congenital anomaly, maculopathy, optic disc pit,
• MeSH
• abnormality očí * komplikace   MeSH
• discus nervi optici * patologie   MeSH
• dítě MeSH
• lidé MeSH
• macula lutea patologie   MeSH
• odchlípení sítnice * etiologie   MeSH
• optická koherentní tomografie MeSH
• vitrektomie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Fatalities due to gas intoxication are rare in routine forensic casework. The most common gas is carbon monoxide, with other gases (ammonia, methane, propane and butane, carbon dioxide, hydrogen sulfide) encountered only very rarely. In this report, we describe the accidental death of two maintenance workers who were found in the silage pit at a biogas plant. The autopsy revealed signs of asphyxia in both the deceased. Analysis of the gaseous mixtures in the tank using an infrared gas analyzer showed slightly elevated concentrations of carbon dioxide. Toxicological examination of the blood of both the deceased using gas chromatography with a flame ionization detector, spectrophotometry and liquid chromatography-mass spectrometry did not detect any toxicologically significant substance that would explain the sudden collapse. Both the autopsy and the toxicology analyses suggest CO2 intoxication as the most likely cause for the collapse of the two men, which then led to sudden asphyxia.

• Klíčová slova
• accidental death, carbon dioxide, drowning, forensic pathology, forensic science, hydrogen sulfide, infrared gas analyzer, silage pit,
• MeSH
• asfyxie etiologie   MeSH
• fatální výsledek MeSH
• karboxyhemoglobin analýza   MeSH
• látky znečišťující vzduch v pracovním prostředí otrava   MeSH
• lidé MeSH
• oxid uhličitý otrava   MeSH
• siláž toxicita   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• karboxyhemoglobin MeSH
• látky znečišťující vzduch v pracovním prostředí MeSH
• oxid uhličitý MeSH

The demand for lithium-ion batteries (LIBs) has dramatically increased in recent years due to their application in various electronic devices and electric vehicles (EVs). Great amount of LIB waste is generated, most of which ends up in landfills. LIB wastes contain substantial amounts of critical metals (such as Li, Co, Ni, Mn, and Cu) and can therefore serve as valuable secondary sources of these metals. Metal recovery from the black mass (shredded spent LIBs) can be achieved via bioleaching, a microbiology-based technology that is considered to be environmentally friendly, due to its lower costs and energy consumption compared to conventional pyrometallurgy or hydrometallurgy. However, the growth and metabolism of bioleaching microorganisms can be inhibited by dissolved metals. In this study, the indigenous acidophilic chemolithotrophs in a sediment from a highly acidic and metal-contaminated mine pit lake were enriched in a selective medium containing iron, sulfur, or both electron donors. The enriched culture with the highest growth and oxidation rate and the lowest microbial diversity (dominated by Acidithiobacillus and Alicyclobacillus spp. utilizing both electron donors) was then gradually adapted to increasing concentrations of Li+, Co2+, Ni2+, Mn2+, and Cu2+. Finally, up to 100% recovery rates of Li, Co, Ni, Mn, and Al were achieved via two-step bioleaching using the adapted culture, resulting in more effective metal extraction compared to bioleaching with a non-adapted culture and abiotic control.

• Klíčová slova
• acidic mine pit lake, bacterial adaptation, bioleaching, black mass, lithium-ion batteries, metal recovery, microbial enrichment,
• Publikační typ
• časopisecké články MeSH

A visual clinical gait analysis is useful, however, it may overlook small, but important, details about the movement, as well as differences between the normal and pathological locomotion. The branch of mechanics that describes the spatial and temporal components of motion is called kinematics, providing quantitative data regarding linear and angular motion. The objective of this study was to establish kinematic gait data of healthy American Pit Bull Terriers and to contribute to the understanding of the locomotion. We evaluated the articular and pelvic angles, and the spatiotemporal variables for walking and trotting from eleven dogs with no previous history of joint and musculoskeletal diseases. Twenty reflective markers were positioned at the anatomical points of interest. The animals walked and trotted in a linear space, led by the same researcher. The kinematic data were collected through optoelectronic cameras and analysed by motion analysis software. The movements analysed during the gait phases were the flexion, extension, range of motion (ROM), angle at the moment of the support phase, stride length and velocity. Comparing the angles between walking and trotting, there were more expressive differences for the pelvic limb joints. There was no difference between the left and right sides at all of the joint angles of the pelvic limbs during walking and trotting. Therefore, the movement of the pelvic limb is symmetrical in both trotting and walking. Our results present reference values for healthy American Pit Bull Terriers, having clinical relevance for studies of dogs with musculoskeletal diseases.

• Klíčová slova
• canine gait, joint angles, kinetics, musculoskeletal system,
• Publikační typ
• časopisecké články MeSH

PURPOSE: To evaluate OCT findings and long-term follow-up results in patient with optic disc pit (ODP) and associated maculopathy treated with pars plana vitrectomy (PPV). METHODS: Six eyes of 6 patients (3 females, 3 males) were included in a retrospective study. We excluded patients with ODP without maculopathy. Patients were followed in years 2008-2017. Mean age at the first examination was 40,3 years (15-70 years). Duration of worsening of the best corrected visual acuity (BCVA) ranged from 2 days to few years. In all patients we performed BCVA test at Early Treatment of Diabetic Retinopathy Study (ETDRS) optotype, examination of anterior and posterior segment and photo documentation of fundus. Optic disc, parapapillary region and macula were examined by optic coherence tomography (OCT). Four patients underwent 23-Ga PPV with active detachment of posterior hyaloid membrane and tamponade with perfluoropropan (16% C3F8). In 2 patients a sample of tissue from ODP was taken during PPV to histological examination. RESULTS: Mean BCVA at the first examination was 0,10 (ranging from 0,05 to 0,16). OCT findings proved macular schisis in outer retinal layers (RSE) in 2 eyes, in 1 of these eyes with additional presence of subretinal fluid. In 4 patients macular schisis in outer as well as inner retinal layers (RSI) was present, in 2 of them with additional subretinal fluid. In 5 eyes glial tissue and/or vitreous condensation was present in ODP. Four eyes with RSE and RSI improved both anatomically as well as functionally after vitrectomy. In 1 patient with previous communication between ODP and RSE this was closed after vitrectomy. Mean pre-operative BCVA was 0,11 (ranging from 0,05 to 0,16), mean final BVCA was 0,5 (ranging from 0,25 to 0,63), mean visual gain was +30 letters (ranging from +10 to +45). Mean follow-up after PPV was 59 months (36-96). CONCLUSION: Spectral OCT shows variability of morphological findings in patient with ODP associated with maculopathy. Traction of glial tissue and/or condensed vitreous in ODP together with adherent posterior vitreous membrane could be one of the factors causing macular retinoschisis and/or secondary serous macular detachment. Complete separation of vitreous from optic nerve head during the vitrectomy is an efficient treatment resulting in macular reattachment and improvement in visual functions. Key words: optic disc pit, intrapapillary proliferation, macular retinoschisis, optical coherence tomography, pars plana vitrectomy, posterior vitreous detachment.

• Klíčová slova
• intrapapillary proliferation, macular retinoschisis, optic disc pit, optical coherence tomography, pars plana vitrectomy, posterior vitreous detachment,
• MeSH
• discus nervi optici * MeSH
• lidé MeSH
• následné studie MeSH
• nemoci zrakového nervu * chirurgie   MeSH
• odchlípení sítnice * chirurgie   MeSH
• optická koherentní tomografie MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• vitrektomie * MeSH
• zraková ostrost MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Cicadidae is one of the most species-rich insect families today. However, compared to the number of extant species, fossil records of Cicadidae are extremely limited. Among singing cicadas, the tribe Platypleurini within the Cicadinae subfamily is notable for its broad geographic distribution, high species diversity, and distinctive features, but no reliable fossil records have been discovered to date. In this study, we report the first fossil record of the Platypleurini from the Eocene Messel Pit: a new genus and species, Eoplatypleura messelensis. This species not only represents one of the earliest known fossil crown-group Cicadidae from the Eurasian continent but also the oldest confirmed record of the subfamily Cicadinae worldwide to date. As the first described fossil singing cicada from the Eocene Messel Pit, this discovery enriches the species diversity of the Messel biota and fills a significant gap in the Eocene cicada fossil record. The discovery of E. messelensis gen. et sp. nov. will serve as a fossil calibration point for future molecular phylogenetic studies and provides new insights into the origins and dispersal patterns of Platypleurini. Based on the analysis of existing records, Cicadidae was once widely distributed in Germany and across Europe during the Cenozoic.

• MeSH
• fylogeneze MeSH
• Hemiptera * fyziologie   klasifikace   anatomie a histologie   MeSH
• vokalizace zvířat * fyziologie   MeSH
• zkameněliny * MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Německo MeSH

The aim of this study was to assess pit latrine samples from a peri-urban community in KwaZulu-Natal (South Africa) for the presence of multidrug-resistant (MDR) Staphylococcus spp. Standard procedures were used to isolate Staphylococcus spp. from pit latrine fecal sludge samples, with confirmation at genus level by polymerase chain reaction (PCR). Sixty-eight randomly selected pit latrine Staphylococcus spp. isolates were further characterized by using established disk diffusion procedures. An average Staphylococcus spp. count of 2.1 × 105 CFU per g fecal material was established using two randomly selected pit latrine samples. Of the 68-selected Staphylococcus spp. pit latrine isolates, 49% were identified as coagulase positive, 51% as coagulase negative and 65% (12 coagulase positive, 32 coagulase negative isolates) were categorized as MDR. The majority (66/68) of Staphylococcus spp. isolates displayed resistance to fusidic acid while only 5/68 isolates displayed resistance to chloramphenicol. The pit latrine samples analyzed in this study are a source of MDR Staphylococcus spp., highlighting the need for proper hygiene and sanitation regimes in rural communities using these facilities.

• MeSH
• antibakteriální látky farmakologie   MeSH
• bakteriální geny genetika   MeSH
• bakteriální proteiny metabolismus   MeSH
• DNA bakterií genetika   MeSH
• feces mikrobiologie   MeSH
• koagulasa metabolismus   MeSH
• mikrobiální testy citlivosti MeSH
• mikrobiální viabilita účinky léků   MeSH
• mnohočetná bakteriální léková rezistence * MeSH
• odpadní vody mikrobiologie   MeSH
• Staphylococcus účinky léků   enzymologie   genetika   izolace a purifikace   MeSH
• toalety * MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH
• Geografické názvy
• Jihoafrická republika MeSH
• Názvy látek
• antibakteriální látky MeSH
• bakteriální proteiny MeSH
• DNA bakterií MeSH
• koagulasa MeSH
• odpadní vody MeSH

Reward based learning is broadly acknowledged to underpin the development and maintenance of addictive behaviour although the mechanism in sexual compulsivity is less understood. Using a Pavlovian-to-Instrumental Transfer (PIT) task we tested whether the motivational aspect of conditioned Pavlovian conditioned stimulus invigorated instrumental responding in relation to specific compatible monetary rewards. Performance on the task was analysed between two groups of males based on Low (N = 38) and High (N = 41) self-report online sexual behaviour (OSB). Psychometric tests including sexual compulsivity scale and behavioural activation/behavioural inhibition (BIS/BAS) were also administered to determine the relationship between OSB and general reward sensitivity. We show clear evidence of acquisition in the Pavlovian and instrumental conditioning phases. Specific transfer effect was greater in the High-OSB group although the difference compared to the Low-OSB group was non-significant. OSB negatively correlated with both BIS and BAS indicative of introversion and low reward sensitivity. OSB positively correlated with sexual compulsivity although it is unclear whether individuals in the High-OSB group considered their behaviour either excessive or problematic. These findings contribute to the ongoing debate regarding the nature of problematic OSB. Fundamental differences in motivational characteristics and mechanism contributing to compulsive behaviour in relation to high-OSB might indicate incompatibility with behavioural addiction models. PIT was not enhanced in high-OSB by appetitive conditioning, although problematic OSB could stem from failure to inhibit actions. Further research should investigate whether aversive conditioning differentially affects responding in high-OSB individuals, potentially explaining perseverant behaviour despite negative consequences.

• MeSH
• klasické podmiňování fyziologie   MeSH
• lidé MeSH
• návykové chování * MeSH
• odměna MeSH
• operantní podmiňování fyziologie   MeSH
• přenos učení (psychologie) * fyziologie   MeSH
• sexuální chování MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH