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The aim of the study was to assess changes in the upper respiratory tract and sleep quality in patients who were suffering from midfacial hypoplasia and treated with the movement of underdeveloped middle segment of the face with an Le Fort III osteotomy and distraction. In this study patients aged 7–19, suffering from Crouzon syndrome, Apert syndrome, or other craniosynostosis were treated with Le Fort III osteotomy and midface distraction. Patients were subjected to radiological examination and polysomnography before and after the treatment. Typical anthropometric points were identified on lateral cephalograms, and were used to take linear and angular measurements. The surface and the volume of the upper respiratory tract were measured with the Dolphin Imaging software. Apnoea Hypopnea Index (AHI) was used to assess the sleep quality. In all 18 patients the analysis showed statistically significant changes of the AHI and in the linear, angular and volumetric measurements. Mean change of the volume of the upper respiratory tract was 12,4 ± 11,3cm3(p = 0,0001) and of the surface was 615 ± 521 mm2 (p = 0,0000000002). Mean improvement of AHI was 9 ± 6,2 (p = 0,00006). In three cases patients had tracheostomy prior to operation and none of them required tracheostomy after the operation. The use of distraction osteogenesis of the middle segment of the face combined with Le Fort III osteotomy results in dilation of the upper respiratory tract at the nasopharyngeal level and at the soft palate level resulting in elimination of sleep and respiration disorders. Further studies with polysomnography are necessary, as well as observation of patients over time and monitoring of treatment stability. [ABSTRACT FROM AUTHOR]

Wstęp Osteogeneza dystrakcyjna typu Le Fort III jest integralnym etapem w protokole leczenia dzieci z zespołowymi kraniosynostozami. Jest procedurą wykonywaną w przypadkach silnie nasilonej hipoplazji środkowego piętra twarzy z zajęciem dolnych części oczodołów. Wskazaniami do wykonywania wysunięcia środkowego piętra twarzy typu Le Fort III są: hipoplazja powodująca zaburzenia oddychania w postaci bezdechów obturacyjnych oraz wytrzeszcz gałek ocznych spowodowany hipoplazją oczodołów. Cel Celem pracy jest ocena skuteczności zastosowanego leczenia w odniesieniu do powiększenia górnych dróg oddechowych oraz analiza wieloetapowego postępowania leczniczego. Materiał i metody Materiał obejmuje 27 pacjentów w wieku od 3 do 21 lat leczonych z powodu: zespołu Crouzona, zespołu Aperta, hipoplazji twarzy, zespołu Rubinsteina-Taybiego, zespołu Bindera, achondroplazji, zespołu Pfeiffera. Zastosowano procedurę chirurgiczną - osteodystrakcja na poziomie Le Fort III i monoblok. Analizowano boczne cefalogramy przed leczeniem i 8 tygodni po zakończeniu osteogenezy dystrakcyjnej. Na zdjęciach mierzono odległości i kąty struktur kostnych twarzoczaszki. Wykonano trójwymiarową analizę górnych dróg oddechowych, porównując objętość i powierzchnię przed oraz po leczeniu. Oceniano współczynnik AHI w badaniu polisomnograficznym przed i po leczeniu. Analizowano wykonane dodatkowe procedury chirurgiczne. Wyniki W prezentowanej grupie osiągnięto wysunięcie średnio 11,6 mm oraz poprawę oddychania u każdego z pacjentów. Objętość górnych dróg oddechowych powiększyła się o 69%, a powierzchnia o 42%. Zanotowano średnią zmianę kąta􀀃􀒈S-N-SNA z 73±140 na 94±60, odległości B-PNS przed leczeniem 3,3±0,5 mm, po leczeniu 4,8±0,6 mm. Uzyskano poprawę współczynnika AHI, w jednym przypadku bez poprawy. W dwóch przypadkach usunięto rurkę tracheostomijną. Wnioski Zastosowanie osteogenezy dystrakcyjnej typu Le Fort III skutkuje: zmianą wymiarów przednio-tylnych struktur środkowego piętra twarzy, powiększeniem górnych dróg oddechowych na poziomie nosogardła i na poziomie podniebienia miękkiego, co przyczynia się do ustąpienia zaburzeń snu i oddychania. Leczenie koryguje wytrzeszcz gałek ocznych, poprawia wygląd twarzy pacjenta i koryguje wadę zgryzu. Leczenie deformacji twarzoczaszki w kraniosynostozach złożonych jest wieloetapowe i wymaga zastosowania dodatkowych procedur w celu osiągnięcia optymalnych efektów leczenia. [ABSTRACT FROM AUTHOR]

Purpose : The paper shows a preliminary study of the basic strength parameters of printed parts made of biocompatible polymers with ceramic layers applied to increase the strength of the tool cutting surface. Methods : The specimens were made from different materials and using different 3D printing technologies and the working surfaces that will eventually form the cutting element of the tool were coated with Al 2 O 3 . Gloss tests were conducted, properties of the coating, a scratch test of the coated surface, also evaluated surface to-pography. Results : Based on the conducted research, it was found that polymeric materials are characterized by sufficient strength and can be used for disposable tools, however, the use of thin layers of Al 2 O 3 significantly increases the surface strength parameters, which may have a significant impact on the reliability and durability of the tools. The polymer surface covered with an Al 2 O 3 layer is characterised by increased scratch resistance ranging from 24% to 75% depending on the core material and printing technology. The gloss of the surfaces is disproportionately low compared to currently used metal tools, which indicates that they can be used in endoscopic procedures. Conclusions : Based on the conducted research, it was found that the use of thin layers of Al 2 O 3 covering polymer 3D prints is an excellent way to increase strength parameters such as scratch resistance, tribological parameters and light reflections arising on the surface as a result of endoscopic lighting are disproportionately small compared to metallic biomaterials. This gives great hope for using polymer 3D prints for personalised neurosurgical tools., (© 2024 Arkadiusz Szarek et al., published by Sciendo.)

DNA methylation (leading to gene silencing) is one of the best-studied epigenetic mechanisms. It is also essential in regulating the dynamics of dopamine release in the synaptic cleft. This regulation relates to the expression of the dopamine transporter gene ( DAT1 ). We examined 137 people addicted to nicotine, 274 addicted subjects, 105 sports subjects and 290 people from the control group. After applying the Bonferroni correction, our results show that as many as 24 out of 33 examined CpG islands had statistically significantly higher methylation in the nicotine-dependent subjects and athletes groups compared to the control group. Analysis of total DAT1 methylation revealed a statistically significant increase in the number of total methylated CpG islands in addicted subjects (40.94%), nicotine-dependent subjects (62.84%) and sports subjects (65.71%) compared to controls (42.36%). The analysis of the methylation status of individual CpG sites revealed a new direction of research on the biological aspects of regulating dopamine release in people addicted to nicotine, people practicing sports and people addicted to psychoactive substances.

Frame-based stereotactic radiosurgery (SRS) has an established role in the treatment of tremor in patients with Parkinson's disease (PD). The low numbers of studies of frameless approaches led to our prospective phase 2 open-label single-arm clinical trial (NCT02406105), which aimed to evaluate the safety and efficacy of CyberKnife frameless SRS. Twenty-three PD patients were irradiated on the area of the thalamic ventral nuclei complex with gradually increasing doses of 70 to 105 Gy delivered in a single fraction. After SRS, patients were monitored for tremor severity and the toxicity of the treatment. Both subjective improvement and dose-dependent efficacy were analysed using standard statistical tests. The median follow-up was 23 months, and one patient died after COVID-19 infection. Another two patients were lost from follow-up. Hyper-response resulting in vascular toxicity and neurologic complications was observed in two patients irradiated with doses of 95 and 100 Gy, respectively. A reduction in tremor severity was observed in fifteen patients, and six experienced stagnation. A constant response during the whole follow-up was observed in 67% patients. A longer median response time was achieved in patients irradiated with doses equal to or less than 85 Gy. Only two patients declared no improvement after SRS. The efficacy of frameless SRS is high and could improve tremor control in a majority of patients. The complication rate is low, especially when doses below 90 Gy are applied. Frameless SRS could be offered as an alternative for patients ineligible for deep brain stimulation; however, studies regarding optimal dose are required.

The study aims at looking into associations between the polymorphism rs6276 that occurs in the putative miRNA target site in the 3'UTR region of the DRD2 gene in patients with substance use disorder (SUD) comorbid with a maniacal syndrome (SUD MANIA). In our study, we did not state any essential difference in DRD2 rs6276 genotype frequencies in the studied samples of SUD MANIA, SUD, and control subjects. A significant result was found for the SUD MANIA group vs. SUD vs. controls on the Neuroticism Scale of NEO FFI test, and DRD2 rs6276 ( p = 0.0320) accounted for 1.7% of the variance. The G/G homozygous variants were linked with lower results on the neuroticism scale in the SUD MANIA group because G/G alleles may serve a protective role in the expression of neuroticism in patients with SUD MANIA. So far, there have been no data in the literature on the relationship between the miRSNP rs6276 region in the DRD2 gene and neuroticism (personal traits) in patients with a diagnosis of substance use disorder comorbid with the affective, maniacal type disturbances related to SUD. This is the first report on this topic.

The neonate skull consists of several bony plates, connected by fibrous soft tissue called sutures. Premature fusion of sutures is a medical condition known as craniosynostosis. Sagittal synostosis, caused by premature fusion of the sagittal suture, is the most common form of this condition. The optimum management of this condition is an ongoing debate in the craniofacial community while aspects of the biomechanics and mechanobiology are not well understood. Here, we describe a computational framework that enables us to predict and compare the calvarial growth following different reconstruction techniques for the management of sagittal synostosis. Our results demonstrate how different reconstruction techniques interact with the increasing intracranial volume. The framework proposed here can be used to inform optimum management of different forms of craniosynostosis, minimising the risk of functional consequences and secondary surgery., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Cross, Khonsari, Patermoster, Arnaud, Larysz, Kölby, Johnson, Ventikos and Moazen.)

Adiponectin is a secretory protein of adipocytes that plays an important role in pathological processes by participation in modulating the immune and inflammatory responses. The pro-inflammatory effect of adiponectin is observed in rheumatoid arthritis (RA). In this study, we examined adiponectin plasma levels and the expression of adiponectin in bone marrow tissue samples, synovium samples, and infrapatellar fat pad samples from patients with osteoarthritis (OA) and RA. Additionally we examined the expression of adiponectin receptors AdipoR1 and AdipoR2 in synovium samples and infrapatellar fat pad samples from patients with OA and RA. We also assessed the correlations between adiponectin plasma concentrations, adiponectin expression in bone marrow, synovium, infrapatellar fat pad, and plasma levels of selected cytokines. We found increased expression of adiponectin in synovium samples and infrapatellar fat pad samples from patients with RA as compared to patients with OA. There were no statistically significant differences of adiponectin plasma levels and adiponectin expression in bone marrow tissue samples between OA and RA patients. There were no differences in the expression of AdipoR1 and AdipoR2 at the mRNA level in synovial tissue and the infrapatellar fat pad between RA and OA patients. However, in immunohistochemical analysis in samples of the synovial membrane from RA patients, we observed very strong expression of adiponectin in intima cells, macrophages, and subintimal fibroblasts, such as synoviocytes, vs. strong expression in OA samples. Very strong expression of adiponectin was also noted in adipocytes of Hoffa's fat pad of RA patients. Expression of AdipoR1 was stronger in RA tissue samples, while AdipoR2 expression was very similar in both RA and OA samples. Our results showed increased adiponectin expression in the synovial membrane and Hoffa's pad in RA patients compared to that of OA patients. However, there were no differences in plasma adiponectin concentrations and its expression in bone marrow. The results suggest that adiponectin is a component of the inflammatory cascade that is present in RA. Pro-inflammatory factors enhance the expression of adiponectin, especially in joint tissues-the synovial membrane and Hoffa's fat pad. In turn, adiponectin also increases the expression of further pro-inflammatory mediators.

The aim of this study was to carry out a retrospective multicentre study comparing the morphological outcome of 8 techniques used for the management of sagittal synostosis versus a large cohort of control patients. Computed tomographic (CT) images were obtained from children CT-scanned for non-craniosynostosis related events (n = 241) and SS patients at preoperative and postoperative follow-up stages (n = 101). No significant difference in morphological outcomes was observed between the techniques considered in this study. However, the majority of techniques showed a tendency for relapse. Further, the more invasive procedures at older ages seem to lead to larger intracranial volume compared to less invasive techniques at younger ages. This study can be a first step towards future multicentre studies, comparing surgical results and offering a possibility for objective benchmarking of outcomes between methods and centres., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Background: Craniosynostosis (CS) represents a highly heterogeneous genetic condition whose genetic background has not been yet revealed. The abnormality occurs either in isolated form or syndromic, as an element of hundreds of different inborn syndromes. Consequently, CS may often represent a challenging diagnostic issue. Methods: We investigated a three-tiered approach (karyotyping, Sanger sequencing, followed by custom gene panel/chromosomal microarray analysis, and exome sequencing), coupled with prioritization of variants based on dysmorphological assessment and description in terms of human phenotype ontology. In addition, we have also performed a statistical analysis of the obtained clinical data using the nonparametric test χ 2 . Results: We achieved a 43% diagnostic success rate and have demonstrated the complexity of mutations' type harbored by the patients, which were either chromosomal aberrations, copy number variations, or point mutations. The majority of pathogenic variants were found in the well-known CS genes, however, variants found in genes associated with chromatinopathies or RASopathies are of particular interest. Conclusion: We have critically summarized and then optimised a cost-effective diagnostic algorithm, which may be helpful in a daily diagnostic routine and future clinical research of various CS types. Moreover, we have pinpointed the possible underestimated co-occurrence of CS and intellectual disability, suggesting it may be overlooked when intellectual disability constitutes a primary clinical complaint. On the other hand, in any case of already detected syndromic CS and intellectual disability, the possible occurrence of clinical features suggestive for chromatinopathies or RASopathies should also be considered., Competing Interests: LG-B was employed by Celon Pharma S.A. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Bukowska-Olech, Sowińska-Seidler, Larysz, Gawliński, Koczyk, Popiel, Gurba-Bryśkiewicz, Materna-Kiryluk, Adamek, Szczepankiewicz, Dominiak, Glista, Matuszewska and Jamsheer.)

(1) Background: In this study, two types of implants were compared-a conventional hip stem and a femoral neck prosthesis. (2) Methods: The femoral neck prosthesis study group included 21 patients, while the conventional hip stem control group was 40 patients. The first examination was the pre-op check, while the next ones were performed 6 weeks, 1 year, and 3 years after surgery. The Harris Hip Score (HHS), Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), Oxford Hip Score (OHS), University of California at Los Angeles Activity Score (UCLA), and Visual Analog Scale EQ (VAS EQ) forms were completed at each clinical study visit. (3) Results: The HHS in the femoral neck prosthesis group and the conventional hip stem group 6 weeks after surgery was 68.8 ± 16.47 and 67.6 ± 8.92, respectively, and 1 year after surgery, this was 93 ± 5.58 vs. 90.6 ± 5.17, respectively. The OHS of the femoral neck prosthesis group was 34.8 points after 6 weeks, 45.5 points after 1 year, and 43.9 points after 3 years. The respective values in the conventional hip stem group were 35.5, 41.55, and 42.13 points. The WOMAC values for the femoral neck prosthesis group were 70.6, 92.7, and 86 points, respectively, while for the conventional hip stem group, they were 74, 88.1, and 86.1 points. The UCLA scores recorded in the conventional hip stem group ranged from 3.15 to 5.05 points, but a higher mean value of 5.33 points was obtained in the femoral neck prosthesis group. VAS EQ was equal to 84 points three years after the operation. (4) Conclusions: The study showed no significant differences in the functional scores of both groups, and the new type of cervical femoral stem could be the first choice in younger patients.

The use of 'new psychoactive substances' appears to be increasingly common. The aim of this study was to examine biological and personality determinants in individuals who choose to use these substances, which may help in the prevention and treatment of psychoactive substance use disorders. The study group consisted of 374 male volunteers; all were users of 'new psychoactive substances' (NPS). The NPS users were recruited after they had abstained-for at least 3 months-from any substance of abuse in addiction treatment facilities. The NPS patients and the control subjects were examined by a psychiatrist using the Mini-International Neuropsychiatric Interview (M.I.N.I.), the NEO Five-Factor Personality Inventory (NEO-FFI), and the State-Trait Anxiety Inventory (STAI) scales. The real-time PCR method was used for genotyping. When we compared the controls with the study group, statistically significant interactions were found between DAT1 polymorphism, neuroticism, and NPS use. NPS use and DAT1 polymorphism were associated with a higher level of neuroticism on the NEO-FFI scale. The study group of NPS users showed a higher severity of anxiety symptoms, both in terms of trait and state, compared to the control group. The results may support the idea that neuroticism and anxiety correlate strongly with coping motives for using NPS.

Sagittal synostosis is the most occurring form of craniosynostosis, resulting in calvarial deformation and possible long-term neurocognitive deficits. Several surgical techniques have been developed to correct these issues. Debates as to the most optimal approach are still ongoing. Finite element method is a computational tool that's shown to assist with the management of craniosynostosis. The aim of this study was to compare and predict the outcomes of three reconstruction methods for sagittal craniosynostosis. Here, a generic finite element model was developed based on a patient at 4 months of age and was virtually reconstructed under all three different techniques. Calvarial growth was simulated to predict the skull morphology and the impact of different reconstruction techniques on the brain growth up to 60 months of age. Predicted morphology was then compared with in vivo and literature data. Our results show a promising resemblance to morphological outcomes at follow up. Morphological characteristics between considered techniques were also captured in our predictions. Pressure outcomes across the brain highlight the potential impact that different techniques have on growth. This study lays the foundation for further investigation into additional reconstructive techniques for sagittal synostosis with the long-term vision of optimizing the management of craniosynostosis., (© 2021. The Author(s).)

Objective: Craniosynostosis (CS) is the premature fusion of the cranial sutures, occurring either in isolated or syndromic form. Syndromic CS, which was described in over 180 genetic syndromes, accounts for 15-30% of all CS cases and usually originates from mutations within the FGFR1, FGFR2, FGFR3, and TWIST1 genes. However, causative alterations in other genes, or rarely copy number variations (CNVs) were also reported. In this article, we describe a patient with Noonan-like facial dysmorphism accompanied by intellectual disability and compound CS, involving coronal, sagittal, and squamous sutures., Methods: We applied karyotyping, copy number variations analysis using array comparative genomic hybridization, and microarray-based genes expresion analysis., Results: We have shown that the index carried a large and rare heterozygous deletion, which encompassed 12.782 Mb and mapped to a chromosomal region of 7q32.3-q35 (HG38 - chr7:131837067-144607071). The aberration comprised 109 protein-coding genes, including BRAF, that encodes serine/threonine-protein kinase B-Raf, being a part of the RAS/MAPK signaling pathway., Discussion: The RAS/MAPK pathway plays an essential role in human development; hence, its dysregulation not surprisingly results in severe congenital anomalies, such as phenotypically overlapping syndromes termed RASopathies. To our best knowledge, we report here the first CNV causing haploinsufficiency of BRAF, resulting in dysregulation of the RAS/MAPK cascade, and consequently, in the phenotype observed in our patient. To conclude, with this report, we have pointed to the involvement of the RAS/MAPK signaling pathway in CS development. Moreover, we have shown that the molecular analysis based on both DNA and RNA profiling, undoubtedly constitutes a comprehensive diagnostic and research strategy for elucidating a cause of genetic diseases., (© 2020 Wiley Periodicals LLC.)

Obtaining reliable and high fidelity next-generation sequencing (NGS) data requires to choose a suitable sequencing platform and a library preparation approach, which both have their inherent assay-specific limitations. Here, we present the results of successful adaptation of SureSelect hybridisation-based target enrichment protocol for the sequencing on the Ion Torrent S5 platform, which is designed to work preferably with amplicon-based panels. In our study, we applied a custom NGS panel to screen a cohort of 16 unrelated patients affected by premature fusion of the cranial sutures, i.e. craniosynostosis (CS). CS occurs either as an isolated malformation or in a syndromic form, representing a genetically heterogeneous and clinically variable group of disorders. The approach presented here allowed us to achieve high quality NGS data and confirmed molecular diagnosis in 19% of cases, reaching the diagnostic yield similar to some of the published research reports. In conclusion, we demonstrated that an alternative enrichment strategy for library preparations can be successfully applied prior to sequencing on the Ion Torrent S5 platform. Also, we proved that the custom NGS panel designed by us represents a useful and effective tool in the molecular diagnostics of patients with CS.

Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic cases remains unknown. We performed exome sequencing of 12 syndromic CS cases and their parents, in whom previous genetic evaluations were unrevealing. Damaging de novo or transmitted loss of function (LOF) mutations were found in 8 genes that are highly intolerant to LOF mutation ( P = 4.0 × 10 -8 ); additionally, a rare damaging mutation in SOX11 , which has a lower level of intolerance, was identified. Four probands had rare damaging mutations (2 de novo) in TFAP2B , a transcription factor that orchestrates neural crest cell migration and differentiation; this mutation burden is highly significant ( P = 8.2 × 10 -12 ). Three probands had rare damaging mutations in GLI2 , SOX11 , or GPC4 , which function in the Hedgehog, BMP, and Wnt signaling pathways; other genes in these pathways have previously been implicated in syndromic CS. Similarly, damaging de novo mutations were identified in genes encoding the chromatin modifier KAT6A , and CTNNA1 , encoding catenin α-1. These findings establish TFAP2B as a CS gene, have implications for assessing risk to subsequent children in these families, and provide evidence implicating other genes in syndromic CS. This high yield indicates the value of performing exome sequencing of syndromic CS patients when sequencing of known disease loci is unrevealing., Competing Interests: The authors declare no conflict of interest., (Copyright © 2019 the Author(s). Published by PNAS.)

Purpose: To report the outcomes for 76 patients with penile cancer treated with high-dose-rate brachytherapy (HDR-BT) at a single institution., Methods: Seventy-six patients with penile cancer treated with HDR-BT in our department between October 1998 and September 2018 were analyzed. Seventy underwent interstitial HDR-BT (fractionation dose range of 3-3.5 Gy given twice a day with an interval of at least six hours between the fractions), and six underwent superficial treatment with mold applicators (fractionation dose range of 4-7 Gy given once or twice a week)., Results: Median follow-up was 76 months (7-204 months). In the whole group, 22/76 local failures (28.9%) were observed: 14/76 (18.4%) local recurrences and 8/76 (10.5%) cases of persistent disease. Median time to recurrence was 24 months (9-54 months). Inguinal lymph node metastases were observed in 18/76 cases (23.7%). Distant metastases occurred in 12/76 (15.8%) cases. Patients with local recurrence and persistent disease underwent salvage penectomies, except four who refused surgery and underwent a second course of interstitial HDR-BT. Five- and 10-year cause-specific survival were 85.0% and 77.8%, respectively. Local control at 5 and 10 years was 65.6%. Five- and 10-year penile preservation were 69.5% and 66.9%, respectively. There was no G3 or G4 acute toxicity. One urethral stenosis (1.3%) occurred in a patient with a T3 tumor and was treated successfully with dilatation., Conclusions: HDR-BT provides good local control of penile cancer and is a good option for penis preservation therapy and in our experience achieves a penile preservation rate at 10 years of 66.9%., (Copyright © 2019 American Brachytherapy Society. Published by Elsevier Inc. All rights reserved.)

Aims: To compare the differences in bone mineral density (BMD) at loaded and non-loaded skeletal sites in professional ballet dancers. We hypothesized that in both male and female elite ballet dancers, a significant difference in BMD will be observed between impact and non-impact sites., Methods: 44 elite ballet dancers, 22 men (age 26.4±5.9 yrs) and 22 women (age 24.9±5.3 yrs), were examined. BMD measurements were performed using dual-energy x-ray absorptiometry at three skeletal sites-forearm (FA), lumbar spine (LS), and femoral neck (FN)-and analyzed using t-tests, ANOVA, and linear regression models. Information about career duration, training volume, health habits, and menstrual disorders (women) was collected., Results: Z-scores for LS and FN were significantly higher in men than in women. However, Z-scores for FA were similar in men and women and fell below the expected range for age (<-2.0), and they were significantly lower than those for LS and FN. With longer career duration, a trend was observed towards lower Z-scores for FN in men and towards higher Z-scores for FA in women., Conclusion: In ballet dancers, FA mineralization is extremely low compared to loaded skeletal sites. Male dancers may have lowered forearm BMD despite the absence of risk factors present in female dancers (menstrual disorders). Professional ballet dancers may be at risk of local osteopenia due to the "local non-impact" characteristics of ballet dance, and use of the 33% distal radius region for the accurate assessment of bone mineral status should be investigated further in this population.

This article was originally published electronically on 29 May 2018 with incorrect copyright line in the Publisher's internet portal (currently SpringerLink). The copyright line of the article should be "© The Author (s) 2018".

Background: Craniosynostoses are congenital defects in the construction of the skull involving premature fusion of one or more cranial sutures. Premature fusion of sutures causes characteristic skull deformation(s). This affect the structure and thus the appearance of the entire head and face. The aim of this study was to analyze parents' subjective assessments of head and facial appearance in children with craniosynostoses before and after surgery. Parents also assessed the interpersonal relationship of their children with peers and adults (after surgery)., Methods: This study was conducted among parents of 230 children treated in Poland, in two multidisciplinary centers. Detailed statistical analysis was conducted among children who had undergone surgery. Independent variables were age (at survey) of the child (three years and less, four years, and five years and more) and type of craniosynostosis (isolated and syndromic). A chi-square independence test was used. Data was collected using surveys., Results: In the opinion of most parents, the appearance of their child's head and face after surgery did not differ or differed only slightly from that of their peers. The results of subjective assessment of appearance of children's face and head after reconstructive treatment remains comparable in three subgroups of patients according to the age. It seems that specific head shape according to the type of craniosynostosis does not have an impact on relations with peers and adults., Conclusion: Surgical treatment of children with craniosynostoses improves the appearance of their head and face. This improvement seems not to depend on the type of isolated craniosynostosis, and is constant over time.

Craniosynostosis (CS) refers to the group of craniofacial malformations characterized by the premature closure of one or more cranial sutures. The disorder is clinically and genetically heterogeneous and occurs usually as an isolated trait, but can also be syndromic. In 30-60% of patients, CS is caused by known genetic factors; however, in the rest of the cases, causative molecular lesions remain unknown. In this paper, we report on a sporadic male patient affected by complex CS (metopic and unilateral lambdoid synostosis), muscular hypotonia, psychomotor retardation, and facial dysmorphism. Since a subset of CS results from submicroscopic chromosomal aberrations, we performed array comparative genomic hybridization (array CGH) in order to identify possibly causative copy-number variation. Array CGH followed by breakpoint sequencing revealed a previously unreported de novo 1.26 Mb duplication at chromosome 1q22-q23.1 that encompassed two genes involved in osteoblast differentiation: BGLAP, encoding osteocalcin (OCN), and LMNA, encoding lamin A/C. OCN is a major component of bone extracellular matrix and a marker of osteogenesis, whereas mutations in LMNA cause several genetic disorders called laminopathies, including mandibuloacral dysostosis (MAD) that manifests with low bone mass, severe bone deformities, and delayed closure of the cranial sutures. Since LMNA and BGLAP overexpression promote osteoblast differentiation and calcification, phenotype of our patient may result from misexpression of the genes. Based on our findings, we hypothesize that both LMNA and BGLAP may be implicated in the pathogenesis of CS in humans. However, further studies are needed to establish the exact pathomechanism underlying development of this defect.

Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10.9-fold enrichment, P = 2.4 × 10 -11 ). SMAD6 had 4 de novo and 14 transmitted mutations; no other gene had more than 1. Four familial NSC kindreds had mutations in genes previously implicated in syndromic disease. Collectively, these mutations contribute to 10% of probands. Mutations are predominantly loss-of-function, implicating haploinsufficiency as a frequent mechanism. A common risk variant near BMP2 increased the penetrance of SMAD6 mutations and was overtransmitted to patients with de novo mutations in other genes in these pathways, supporting a frequent two-locus pathogenesis. These findings implicate new genes in NSC and demonstrate related pathophysiology of common non-syndromic and rare syndromic craniosynostoses. These findings have implications for diagnosis, risk of recurrence, and risk of adverse neurodevelopmental outcomes. Finally, the use of pathways identified in rare syndromic disease to find genes accounting for non-syndromic cases may prove broadly relevant to understanding other congenital disorders featuring high locus heterogeneity., Competing Interests: Conflict of interest statement: J.S. and R.P.L. were among 42 coauthors on a 2015 review article.

Introduction: The mechanism of pathogenesis of pituitary adenomas is still unknown, and it shows differences in pituitary cells of different origin. The aim of our study was to analyse the gene expression profile of pituitary hormones and their precursor genes: PRL, GH, POMC, TSHb, LHb, FSHb, and CGA by QPCR in particular types of pituitary adenomas, and to evaluate the results in the context of sample selection for microarray studies., Material and Methods: Analysis of the gene expression profile was performed in 84 samples of pituitary adenomas, by real-time quantitative PCR (QPCR)., Results: As expected, expression of GH gene was significantly higher in somatotropinomas than in prolactinomas (p < 0.05). For POMC gene we noticed lower expression in all pituitary adenomas, except adrenocorticotropinomas (p < 0.05). In the case of PRL gene, the highest expression was observed; PRL+ adenomas were in third place. LHb and FSHb genes showed the highest expression, respectively, in LH-producing and FSH-producing pituitary adenomas; however, our analysis did not show statistically significant differences between LH-producing and FSH-producing adenomas., Conclusions: Our study showed that GH is a characteristic gene for somatotropinomas. We drew a similar conclusion for POMC gene and adrenocorticotropinomas. However, the results that we obtained for PRL, TSHb, LHb, FSHb, and CGA genes indicate that evaluation of gene expression is not sufficient for classification of particular subtypes of pituitary adenomas.

Lymphorrhoea is a rare complication after orthopaedic surgeries. This paper presents a case of a patient who demonstrated cervical lymphorrhoea as an early complication of scalenotomy. The lymphorrhoea was success - fully stopped through VATS closure of the thoracic duct following initial ineffective conservative treatment.

Background and Purpose: The pathogenesis of cerebral aneurysms still raises some controversies. The aim of this study was to identify morphological, hemodynamic, and clinical independent risk factors for anterior communicating artery (ACoA) aneurysm development., Methods: Computed tomography angiography and transcranial color-coded sonography were performed in 77 patients with a nonbleeding ACoA aneurysm and in 73 controls. Symmetry of A1 segments of the anterior cerebral arteries, angles between A1 and A2 segments, tortuosity, diameter, mean velocity (Vm), pulsatility index, and volume flow rate in both A1 segments were determined. Moreover, all study participants completed a survey on their medical history. Multivariate backward stepwise logistic regression analysis was performed to identify independent risk factors for ACoA aneurysm development., Results: Smoking, hypertension, asymmetry of A1 segments, the angle between A1 and A2 segments, A1 segment diameter, Vm, pulsatility index, and volume flow rate turned out to be associated with the occurrence of ACoA aneurysms on univariate analysis. Multivariate analysis identified smoking (odds ratio, 2.036; 95% confidence interval, 1.277-3.245), asymmetry of A1 segments>40% (odds ratio, 2.524; 95% confidence interval, 1.275-4.996), pulsatility index (odds ratio, 0.004; 95% confidence interval, 0.000-0.124), and the angle between A1 and A2 segments≤100° (odds ratio, 4.665; 95% confidence interval, 2.247-9.687) as independent strong risk factors for ACoA aneurysm development., Conclusions: The risk of ACoA aneurysm formation is determined by several independent clinical, morphological, and hemodynamic factors. The strongest independent risk factors include smoking, asymmetry of A1 segments>40%, low blood flow pulsatility, and the angle between A1 and A2 segments≤100°., (© 2014 American Heart Association, Inc.)

Purpose: The aim of the study was to compare the radiological indicators of effectiveness for hydrocephalus treatment in children operated on under the third year of age with the use of shunt insertion (SI) and endoscopic third ventriculostomy (ETV). The effectiveness was considered in terms of postoperative neurodevelopment in correlation to pre- and postoperative radiological findings., Methods: The examined group consisted of 46 children operated on for hydrocephalus in the Division of Pediatric Neurosurgery in Katowice, Poland. There were 21 children treated with SI and 25 with ETV. The radiographic assessment was carried out on the basis of MRI and CT examinations with the use of a linear estimate known as frontal and occipital horn ratio (FOR). The FOR values were calculated for the entire group and in correlation to the treatment method and to the children neurodevelopment evaluated with The Denver Developmental Screening Test., Results: No differences were recognized between initial FOR value in terms of the postoperative children neurodevelopment. In the successful ETV-treated subgroup, the mean change in FOR was 0.05 and in the SI-treated subgroup, the mean change in FOR 0.13. The patients with BFOR >0.1, developed normally more often than those in whom BFOR was lower than 0.1., Conclusions: The initial FOR value probably does not affect the postoperative developmental outcome. Long-term change in ventricles size after surgery can correlate with psychomotor development of hydrocephalic children. Presumably, there are no differences between two treatment options according to initial FOR values and to changes in FOR values.

Craniosynostosis is a skull malformation because of premature fusing of one or more cranial sutures. The most common types of craniosynostosis are scaphocephaly (with the sagittal suture fused) and trigonocephaly (with the metopic suture fused). In this paper we describe and discuss how finite element analysis and three-dimensional modeling can be used for preoperative planning of the correction of craniosynostosis and for the postoperative evaluation of the treatment results. We used the engineering software MIMICS MATERIALISE to obtain three-dimensional geometry from computed tomography scans, and applied finite element method for the sake of biomechanical analysis. These simulations help to improve the surgical treatment, making it more accurate, safer, and faster., (Copyright © 2012 John Wiley & Sons, Ltd.)

Purpose: The aim of our study was to evaluate treatment results and toxicity of stereotactic irradiation for arteriovenous malformations (AVMs) in children., Methods: A group of ten consecutive children (four boys and six girls) irradiated between 2002 and 2010 at our institution was included into the study. The mean age at the time of treatment was 15.4 and ranged between 8 and 18 years. There were two Spetzler-Martin grade IV, four grade III, and four grade II lesions. Mean AVM volume was 13.2 cm(3) and varied from 0.6 to 36.8 cm(3). In five patients, the planned dose of 16-20 Gy was delivered in single fraction, in five the total dose of 16-24 Gy was delivered in two to three fractions. One patient was reirradiated with a dose of 15 Gy, 7 years after the initial treatment., Results: The median follow-up was 38.5 months. The treatment resulted in total obliteration in eight patients and partial in one. The median time to obliteration was 22 months; actuarial total obliteration rates were 20, 54, 54, and 83 % after 1, 2, 3, and 4 years of follow-up, respectively. No patient bled after the treatment. In one patient, new epileptic seizures developed after the treatment; in magnetic resonance imaging, focal necrosis was revealed. In five patients, asymptomatic imaging abnormalities were seen during follow-up., Conclusions: Stereotactic radiotherapy appears to be an effective method of treatment for pediatric AVMs, the patients however require meticulous follow-up because of relative high incidence of radiation-induced imaging abnormalities.

Background: The treatment of large arteriovenous malformations (AVMs) or AVMs involving eloquent regions of the brain remains a challenge. For inoperable lesions, observation, volume-staged radiosurgery or hypofractionated stereotactic radiotherapy (HFSRT) are proposed. The aim of our study was to assess the safety and efficiency of HFSRT for large AVMs located in eloquent areas of the brain., Materials and Methods: An analysis of records of 49 patients irradiated for cerebral AVMs with a mean dose of 19.9 Gy (12-28 Gy) delivered in 2-4 fractions with planned gap (at least one week) between fractions. Actuarial obliteration rates and annual bleeding hazard were calculated using Kaplan-Meier survival analysis and life tables., Results: Annual bleeding hazard rates were 4.5% and 1.6% after one and two years of the follow-up, respectively. Actuarial total obliteration rates were 7%, 11%, and 21% and total response rate (total and partial obliterations) 22%, 41%, and 55% after one, two and three years of the follow-up, respectively. There was a trend towards larger total obliteration rate in patients irradiated with fraction dose ≥ 8 Gy and total dose > 21 Gy for lesions of volume ≤ 8.18 cm(3) which was not observed in case of partial obliterations., Conclusions: HFSRT results with relatively low obliteration rate but is not associated with a significant risk of permanent neurological deficits if both total and fraction doses are adjusted to size and location of the lesion. Predictive factors for total and partial obliterations can be different; this observation, however, is not firmly supported and requires further studies.

Pituitary adenomas are primary, benign CNS tumors. Sporadically, they metastasize or become malignant. However, they can infiltrate adjacent structures even if they are benign and without hormonal activity. Moreover, by compressing adjacent tissues they cause their gradual degradation and, as a result, irreversible CNS damage. Pure endoscopic transnasal transsphenoidal approach enables minimally invasive resection of the aforementioned tumors. In most cases, standard total resection is sufficient but in some cases tumors could be recurrent. There are still unknown risk factors leading to recurrence and subsequent progression of these tumors. This is the reason why pituitary adenomas are a serious clinical and social problem in spite of their benign histology. Continuous development of immunohistochemical and proteomic examinations and application of advanced methods of functional genomics allow for better understanding of biology and pathogenesis of these tumors. In the paper authors discuss molecular etiopathogenesis of pituitary adenomas.