Clinical outcomes of pelvic bone marrow sparing radiotherapy for cervical cancer: A systematic review and meta-analysis of randomised controlled trials.

Background: Concurrent chemoradiotherapy (CRT) is the standard treatment for locally advanced cervical cancer. We investigated how additional bone marrow sparing (BMS) affects the clinical outcomes. Methods: We queried MEDLINE, Embase, Web of Science Core Collection, Google Scholar, Sinomed, CNKI, and Wanfang databases for articles published in English or Chinese between 2010/01/01 and 2023/10/31. Full-text manuscripts of prospective, randomised trials on BMS in cervical cancer patients treated with definitive or postoperative CRT were included. Risk of bias (RoB) was assessed using Cochrane Collaboration's RoB tool. Random-effects models were used for the meta-analysis. Results: A total of 17 trials encompassing 1297 patients were included. The majority were single-centre trials (n = 1268) performed in China (n = 1128). Most trials used CT-based anatomical BMS (n = 1076). There was a comparable representation of trials in the definitive (n = 655) and postoperative (n = 582) settings, and the remaining trials included both.Twelve studies reported data on G ≥ 3 (n = 782) and G ≥ 2 (n = 754) haematologic adverse events. Both G ≥ 3 (OR 0.39; 95 % CI 0.28-0.55; p < 0.001) and G ≥ 2 (OR 0.29; 95 % CI 0.18-0.46; p < 0.001) toxicity were significantly lowered, favouring BMS. Seven studies (n = 635) reported data on chemotherapy interruptions, defined as receiving less than five cycles of cisplatin, which were significantly less frequent in patients treated with BMS (OR 0.44; 95 % CI 0.24-0.81; p = 0.016). There was no evidence of increased gastrointestinal or genitourinary toxicity.There were no signs of significant heterogeneity. Four studies were assessed as high RoB; sensitivity analyses excluding these provided comparable results for main outcomes. The main limitations include heterogeneity in BMS methodology between studies, low representation of populations most affected by cervical cancer, and insufficient data to assess survival outcomes. Conclusions: The addition of BMS to definitive CRT in cervical cancer patients decreases hematologic toxicity and the frequency of interruptions in concurrent chemotherapy. However, data are insufficient to verify the impact on survival and disease control.

Investigation of doxycycline residues in bones after oral administration to broiler chickens.

Introduction: Chicken bones, a by-product of the poultry industry, can directly or indirectly enter the food chain. Bone meal and bone products could be sources of many contaminants. Considering the wide range of uses made of bones in the culinary and food industries, this material needs to be safe and antibiotic residue-free. To determine if such is the case, the concentration of doxycycline in chicken bones was investigated, this antimicrobial being one of the most commonly used in poultry production. Material and Methods: Ross 308 broilers were grouped into three experimental and one control group. Doxycycline was administered in drinking water at therapeutic and sub-therapeutic doses, as well as via spray treatment. The concentration of doxycycline in bones was determined post slaughter by ultra-high performance liquid chromatography-tandem mass spectrometry. Results: Doxycycline was quantified at 135 µg/kg 22 days after the last day of antibiotic administration at therapeutic doses; 2,285 µg/kg after sub-therapeutic treatment for 27 days and 9.62 µg/kg 22 days after the end of spray application. Conclusion: High concentrations and long persistence of doxycycline in bones were found in this study. Doxycycline can contaminate all bone-derived products in the food and fertiliser industries.

Investigating the biomechanical behaviour of tendon-loaded wrist joint using web-like kinematic network model.

The complexity of wrist anatomy and mechanics makes it challenging to develop standardized measurements and establish a normative reference database of wrist biomechanics despite being studied extensively. Moreover, heterogeneity factors in both demographic characteristics (e.g. gender) and physiological properties (e.g. ligament laxity) could lead to differences in biomechanical behaviour even within healthy groups. We investigated the kinematic behaviour of the carpal bones by creating a virtual web-like network between the bones using electromagnetic (EM) sensors. Our objective was to quantify the changes in the carpal bones' biomechanical relative motions and orientations during active wrist motion in the form of orb-web architecture. Models from five cadaveric specimens at different wrist positions: (1) Neutral to 30° Extension, (2) Neutral to 50° Flexion, (3) Neutral to 10° Radial Deviation, (4) Neutral to 20° Ulnar Deviation, and (5) Dart-Throw Motion - Extension (30° Extension/10° RD) to Dart-Throw Motion Flexion (50° Flexion/20° UD), in both neutral and pronated forearm have been analyzed. Quantification analyses were done by measuring the changes in the network thread length, as well as determining the correlation between the threads at different wrist positions. We observed similarities in the kinematic web-network patterns across all specimens, and the interactions between the network threads were aligned to the carpal bones' kinematic behaviour. Furthermore, analyzing the relative changes in the wrist web network has the potential to address the heterogeneity challenges and further facilitate the development of a 3D wrist biomechanics quantitative tool.

Lithium and the risk of fractures in patients with bipolar disorder: A population-based cohort study.

Lithium is considered to be the most effective mood stabilizer for bipolar disorder. Evolving evidence suggested lithium can also regulate bone metabolism which may reduce the risk of fractures. While there are concerns about fractures for antipsychotics and mood stabilizing antiepileptics, very little is known about the overall risk of fractures associated with specific treatments. This study aimed to compare the risk of fractures in patients with bipolar disorder prescribed lithium, antipsychotics or mood stabilizing antiepileptics (valproate, lamotrigine, carbamazepine). Among 40,697 patients with bipolar disorder from 1993 to 2019 identified from a primary care electronic health record database in the UK, 13,385 were new users of mood stabilizing agents (lithium:2339; non-lithium: 11,046). Lithium was associated with a lower risk of fractures compared with non-lithium treatments (HR 0.66, 95 % CI 0.44-0.98). The results were similar when comparing lithium with prolactin raising and sparing antipsychotics, and individual antiepileptics. Lithium use may lower fracture risk, a benefit that is particularly relevant for patients with serious mental illness who are more prone to falls due to their behaviors. Our findings could help inform better treatment decisions for bipolar disorder, and lithium's potential to prevent fractures should be considered for patients at high risk of fractures.

The effects of high-dose radiation therapy on bone: a scoping review.

PURPOSE: This scoping review presents the preclinical and clinical data on the effects of high-dose radiation therapy (RT) on bone structure and function. MATERIALS AND METHODS: An extensive PubMed search was performed for the relevant questions. The data were then synthesized into a comprehensive summary of the available relevant in-vitro, preclinical and clinical literature. RESULTS: In-vitro studies of high-dose RT on cell cultures show considerable damage in the viability and functional capacity of the primary cells of the bones; the osteoclasts, the osteoblasts, and the osteocytes. In-vivo animal models show that high-dose RT induces significant morphological changes to the bone, inhibits the ability of bone to repair damage, and increases the fragility of the bone. Clinical data show that there is an increasing risk over time of damage to the bone, such as fractures, after high-dose RT. CONCLUSION: These findings suggest that there may be a limit to the safe dose for single-fraction RT, and the long-term consequences of high-dose RT for the patients must be considered.

A Computed Tomography-Based Fracture Prediction Model With Images of Vertebral Bones and Muscles by Employing Deep Learning: Development and Validation Study.

BACKGROUND: With the progressive increase in aging populations, the use of opportunistic computed tomography (CT) scanning is increasing, which could be a valuable method for acquiring information on both muscles and bones of aging populations. OBJECTIVE: The aim of this study was to develop and externally validate opportunistic CT-based fracture prediction models by using images of vertebral bones and paravertebral muscles. METHODS: The models were developed based on a retrospective longitudinal cohort study of 1214 patients with abdominal CT images between 2010 and 2019. The models were externally validated in 495 patients. The primary outcome of this study was defined as the predictive accuracy for identifying vertebral fracture events within a 5-year follow-up. The image models were developed using an attention convolutional neural network-recurrent neural network model from images of the vertebral bone and paravertebral muscles. RESULTS: The mean ages of the patients in the development and validation sets were 73 years and 68 years, and 69.1% (839/1214) and 78.8% (390/495) of them were females, respectively. The areas under the receiver operator curve (AUROCs) for predicting vertebral fractures were superior in images of the vertebral bone and paravertebral muscles than those in the bone-only images in the external validation cohort (0.827, 95% CI 0.821-0.833 vs 0.815, 95% CI 0.806-0.824, respectively; P<.001). The AUROCs of these image models were higher than those of the fracture risk assessment models (0.810 for major osteoporotic risk, 0.780 for hip fracture risk). For the clinical model using age, sex, BMI, use of steroids, smoking, possible secondary osteoporosis, type 2 diabetes mellitus, HIV, hepatitis C, and renal failure, the AUROC value in the external validation cohort was 0.749 (95% CI 0.736-0.762), which was lower than that of the image model using vertebral bones and muscles (P<.001). CONCLUSIONS: The model using the images of the vertebral bone and paravertebral muscle showed better performance than that using the images of the bone-only or clinical variables. Opportunistic CT screening may contribute to identifying patients with a high fracture risk in the future.

An archaeozoological dataset for 3000 years of animal management in the Netherlands.

This paper presents an archaeozoological dataset listing numbers of identified fragments for domestic cattle, sheep/goat, pig and horse from archaeological sites in the Netherlands dating from the Bronze Age to the Early Medieval period (c. 2000 BC - AD 1050) [1]. In addition to fragment numbers per species, the geo-referenced dataset includes chronological information, site descriptions, and bibliographic references. Data were collected from tables listing numbers of bone fragments per animal species as found in published and unpublished reports. Number of identified bone fragments per animal species form the most basic archaeozoological information. They can be used to reconstruct animal husbandry and human dietary practices in the past. The dataset can therefore be used in spatio-temporal studies of animal use and management across c. 3000 years.

The Relationship between Structure of the Wrist and Function in a Japanese and Caucasian Population.

Background: Factors such as age and joint structure affect normal wrist motion. The midcarpal joint participates in flexion/extension, radial-ulnar/deviation (RUD), and since lunate/wrist type-2 is likely more stable than a lunate/wrist type-1, we suggest that midcarpal joint structure will affect wrist motion. Our purpose was to compare wrist motion in Caucasian and Japanese populations and to associate motion with midcarpal joint morphology. We hypothesised that radiographic structure would correlate with wrist motion. Methods: A total of 164 patients with normal wrist radiographs were included. Clinical measurements included wrist extension, flexion and RUD. Radiographic measurements included the radiocarpal joint: ulnar variance, radial height, radial inclination, volar inclination and carpal joint measurements: lunate type, capitate circumference and each of its joints contact measured and calculated as a proportion of capitate circumference. Results: The groups differed in wrist motion and in multiple radiographic measurements. When the two populations were analysed together, there were no significant associations between midcarpal joint type and wrist motion. The radiocarpal joint: ulnar variance was correlated with extension and radial deviation. Radial height was directly related to flexion, and both radial height and radial inclination were directly correlated with ulnar deviation. The intracarpal measurements: The main measurement affecting motion was the contact between the capitate and the scaphoid (as a proportion of capitate circumference) with lesser correlations of the contact of the capitate with the trapezoid and hamate. The most significant measurement associated with a lunate type-2 was scaphoid contact with the capitate p = 0.01. Logistic regression demonstrated that the measurements most associated with wrist motion were scaphoid contact with the capitate/capitate circumference and hamate contact with the capitate/capitate. Conclusions: This study supports discrepancies in wrist motion amongst different racial cohorts, and a relationship between bone/joint structure in the wrist and wrist motion. This can help treat wrist pathology. Level of Evidence: Level III (Diagnostic).

Correlation of Kennedy Osteitis Score with the Tissue and Peripheral Eosinophil Counts in Patients of Eosinophilic Chronic Rhinosinusitis.

Background: The presence of osteoid bone in chronic rhinosinusitis especially the eosinophilic subtype is commonly associated with recalcitrant illness. In practice, the radiological features of osteitis sinus alterations are frequently described, but the clinical and histopathologic implications are not well understood. Objective: This study was done to correlate the radiological and the clinico-histopathological aspects in patients of eosinophilic chronic rhinosinusitis. Methods: A cross-sectional study was done on sixty patients of chronic rhinosinusitis with nasal polyposis (CRSwNP) patients especially the eosinophilic subtype undergoing sinus surgery. Radiologically, osteitis was graded using standards that had already been published in the literature. Analysis was done on the relationships between CT documented osteitis, histopathological, and peripheral eosinophilic counts in patients of eosinophilic chronic rhinosinusitis. Results: The patients with higher tissue eosinophilia and higher peripheral eosinophils had higher osteitis score. Pearson's correlation coefficient between Tissue Eosinophils and KOS was highly significant with p-value <0.001 (0.891). R2 value for KOS versus Tissue Eosinophils was 79.44%,implying that 79.44% variations were explained by Tissue Eosinophils in KOS. And R2 value for KOS versus Peripheral Eosinophils was 74.26%, implying that 74.26% variations were explained by Peripheral Eosinophils in KOS. Thereby, showing a positive relationship between the variables that were studied. Conclusion: Kennedy Osteitis Score, histopathological and peripheral eosinophilia can be used as a marker to predict the disease severity in eosinophilic chronic rhinosinusitis.

Exploring the Interplay between Vitamin D, Insulin Resistance, Obesity and Skeletal Health.

Vitamin D (ViD), plays an important role in calcium absorption and bone mineralization, is associated with bone mineral density. Severe deficiency in ViD has long been linked to conditions such as rickets in children and osteomalacia in adults, revealing its substantial role in skeletal health. Additionally, investigations show an existing interconnection between ViD and insulin resistance (Ins-R), especially in patients with type 2 diabetes mellitus (T2DM). Obesity, in conjunction with Ins-R, may augment the risk of osteoporosis and deterioration of skeletal health. This review aims to examine recent studies on the interplay between ViD, Ins-R, obesity, and their impact on skeletal health, to offer insights into potential therapeutic strategies. Cochrane Library, Google Scholar, and Pubmed were searched to investigate relevant studies until December 2023. Current research demonstrates ViD's impact on pancreatic ß-cell function, systemic inflammation, and insulin action regulation. Our findings highlight an intricate association between ViD, Ins-R, obesity, and skeletal health, providing a perspective for the prevention and/or treatment of skeletal disorders in patients with obesity, Ins-R, and T2DM.

Ectrodactyly with Polydactyly in a Dog-Case Description and Description of Surgical Therapy with Resection and Fusion Podoplasty.

OBJECTIVE: To describe a rare congenital deformity of the phalanges and the surgical details and outcome in a dog with ectrodactyly combined with polydactyly. STUDY DESIGN: Single case report. ANIMAL: A 3.5-month-old male intact mixed breed dog with forelimb lameness and paw malformations. METHODS: Surgery was performed on a dog with a congenital limb deformity consisting of resection of the extra bone and soft tissue structure to prevent further subluxation of the remaining metacarpals. Stabilisation consisted of a cortical screw in compression and a K wire across the proximal metacarpals. RESULTS: Postoperative radiographs showed adequate implant positioning and good reduction of the proximal metacarpal row. At six weeks, the dog showed improvement in limb function and weight bearing. Major complications occurred at twelve weeks, and revision surgery with implant removal was required. At six months, the dog showed near normal range of motion and no lameness. CONCLUSIONS AND CLINICAL RELEVANCE: The decision to perform surgery on a dog with limb deformity resulted in an almost physiological gait, and the dog showed no abnormalities in daily life. This report adds to the literature on congenital limb deformities by describing the combination of ectrodactyly and polydactylism in a canine species, including the surgical approach and outcome. However, the optimal management of this heterogeneous condition is currently unclear.

Investigating gunshot wounds in charred bone with XRF spectroscopy: a technical note.

The analysis of traces of injuries can be difficult in cases of charred human remains since the alteration and fragmentation are high. The aim of this study is to explore the use of X-Ray Fluorescence (XRF) technique as a screening tool for detecting and analyzing gunshot residues (GSR) on cremated and highly fragmented materials, as it is a technique that allows for fast qualitative investigations without altering the sample or requiring sample preparation. The study was carried out on two steps: firstly, on completed skeletonized bones to verify if GSR survive to burning; secondly, we considered a more realistic situation, in which soft tissues were present before the shooting. To this aim, nine adult bovine ribs, four retaining soft tissue, five completely skeletonized, were subjected to a shooting test using two types of 9 mm projectiles (jacketed and unjacketed bullets). The ribs were then burnt until complete calcination in an electric furnace. The entry wound of each rib was analyzed using XRF, revealing traces of GSR. The XRF analysis showed that all samples, except for one, contain Pb and/or Sb near the lesion. Furthermore, the samples hit by unjacketed bullets had a more significant presence of Pb in macroscopic yellow areas, which persisted when moving away from the gunshot. These findings could pave the way for the use of XRF technology, mostly when a fast and immediate scan must be done on osteologic materials by a conservative method.

Effect of training on bone quality in rats with insulin resistance induce by fluoride consumption.

When large amounts of Fluoride are consumed produces insulin resistance, but exercise can reverse insulin resistance in rats, because of a high fluoride uptake by bone tissue. However, bone quality has not been studied in those experiments. Therefore, the aim of this work was to evaluate bone quality in rats treated with fluoride when performing exercise. Sprague-Dawley rats were divided into 3 groups (n=6 per group): Control (drinking water without fluoride), Fluoride (drinking water with fluoride 15 mg/L for 30 days) and Exercise (daily running on a treadmill and drinking water with fluoride 15 mg/L for 30 days).  Then, bone mineral density, mechanical and histological properties and bone fluoride level were measured. No effect of treatment on any bone parameters were observed. These results indicate that exercise normalizes glucose metabolism in insulin-resistant rats by bone fluoride uptake; however, this increase in bone fluoride does not manifest in bone deterioration.

Cuando se consumen grandes cantidades de fluoruro se produce resistencia a la insulina, pero la realización de ejercicio puede revertir dicho efecto en ratas, debido a una alta absorción de fluoruro por el tejido óseo. Sin embargo, la calidad ósea no ha sido estudiada. Por ello, el objetivo de este trabajo fue evaluar la calidad ósea en ratas tratadas con flúor que realizan ejercicio. Se trabajó con ratas Sprague-Dawley que se dividieron en 3 grupos (n=6 por grupo): Control (recibiron agua sin flúor), Flúor (recibieron agua con flúor 15 mg/L durante 30 días) y Ejercicio (realizaron ejercicio diariamente en cinta ergométrica y recibieron agua con fluoruro 15 mg/L por 30 días). Luego, se midieron la densidad mineral ósea, las propiedades biomecánicas e histológicas y el nivel de fluoruro óseo. No se observó ningún efecto del tratamiento sobre ningún parámetro óseo. Estos resultados indican que el ejercicio normaliza el metabolismo de la glucosa en ratas resistentes a la insulina mediante la captación ósea de fluoruro; sin embargo, este aumento del fluoruro óseo no se manifiesta en deterioro óseo.

Post-blast histological changes to three animal bones exposed to close-range chemical detonation.

A range of investigative practices to aid explosive-related death investigations currently exist, although the use of histopathological bone samples to diagnose blast exposure and the distance of individuals from the blast source has not been previously reported. Forensic histopathology has been used effectively on soft tissue samples to define blast-related injuries effectively, analysing human organs such as the lungs, brain, liver, and skeletal muscles, providing important and useful forensic pathology interpretations. However, no studies currently exist examining the post-blast histological changes in human or animal bones subjected to blasts for forensic pathology practice, despite the opportunity that hard tissue bone samples present, given their significantly lower rate of decomposition over soft tissue. This study presents the first evidence-based findings on the post-blast histological changes in three animal bones when exposed to close-range chemical detonation (C4). The study's qualitative findings highlight critical changes in the tissue architecture of three different animal bone sources due to blast effects with range from the blast source. This emphasises the potential use of histopathological bone sample analysis in future blast-related death investigations, while providing ideas to further explore this work using larger-scale experiments and post-blast case studies in aid of applying this work to human samples and forensic pathology practice.

Associations between Celiac Disease, Extra-Gastrointestinal Manifestations, and Gluten-Free Diet: A Narrative Overview.

Millions of children and adults worldwide suffer from undiagnosed and untreated celiac disease (CeD). The clinical picture of CeD is highly heterogeneous and comprises manifestations that can affect almost the whole body. This narrative overview is aimed at characterizing diseases and complaints that are associated with unrecognized CeD and that frequently involve sites other than the gastrointestinal (G.I.) tract, i.e., dental, otorhinolaryngological, and ocular complications; skin and hair abnormalities; afflictions of the bones, joints, and muscles; cardiovascular affectations; kidney diseases; neuro-psychiatric disorders; and gynecological-obstetrical manifestations. The association between CeD and extra-GI manifestations is frequently overlooked, which leads to a delay in diagnosis. Most CeD-mediated disorders can be treated with a strict gluten-free diet (GFD), but some of them are irreversible unless CeD is diagnosed in time. Some manifestations can be classified as risk factors for CeD, and CeD screening tests for affected patients should be selectively considered. Apart from gastroenterologists, specialists in other medical disciplines can play an important role in identifying people with unrecognized CeD and may help prevent its progress and long-term complications. Further comprehensive investigations are necessary to clarify the pathogenesis of extra-GI manifestations and the effect of a GFD.

Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome.

BACKGROUND: Neither radiological phenotypic characteristics nor reconstruction CT scan has been used to study the early anatomical disruption of the cranial bone in children with the so-called idiopathic type of West syndrome. MATERIAL AND METHODS: The basic diagnostic measures and the classical antiepileptic treatments were applied to these children in accordance with the conventional protocol of investigations and treatment for children with West syndrome. Boys from three unrelated families were given the diagnosis of the idiopathic type of West syndrome, aged 7, 10 and 12 years old. Parents underwent extensive clinical examinations. Three parents (age range of 28-41 year) were included in this study. All children showed a history of intellectual disabilities, cryptogenic epileptic spasms and fragmented hypsarrhythmia. These children and their parents were referred to our orthopedic departments because of variable skeletal deformities. Variable forms of skeletal deformities were the motive for the families to seek orthopedic advice. A constellation of flat foot, torticollis and early-onset osteoarthritis were observed by the family doctor. Apparently, and from the first clinical session in our practice, we felt that all these children are manifesting variable forms of abnormal craniofacial contour. Thereby, we immediately performed detailed cranial radiological phenotypic characterization of every affected child, as well as the siblings and parents, and all were enrolled in this study. All affected children underwent whole-exome sequence analysis. RESULTS: The craniofacial phenotype of all children revealed apparent developmental anatomical disruption of the cranial bones. Palpation of the skull bones showed unusual palpable bony ridges along different sutural locations. A 7-year-old child showed abnormal bulging over the sagittal suture, associated with bilateral bony ridges over the squamosal sutures. AP skull radiograph of a 7-year-old boy with West syndrome showed facial asymmetry with early closure of the metopic suture, and other sutures seemed ill-defined. A 3D reconstruction CT scan of the skull showed early closure of the metopic suture. Another 3D reconstruction CT scan of the skull while the patient was in flexion showed early closure of the squamosal sutures, pressing the brain contents upward, causing the development of a prominent bulge at the top of the mid-sagittal suture. A reformatted 3D reconstruction CT scan confirmed the bilateral closure of the squamosal suture. Examination of the parents revealed a similar skull radiographic abnormality in his mother. A 3D reformatted frontal cranial CT of a 35-year-old mother showed early closure of the metopic and sagittal sutures, causing a mid-sagittal bony bulge. A 10-year-old boy showed an extremely narrow frontal area, facial asymmetry and a well palpable ridge over the lambdoid sutures. A 3D axial reconstruction CT scan of a 10-year-old boy with West syndrome illustrated the asymmetry of the posterior cranial bones along the lambdoid sutures. Interestingly, his 28-year-old mother has been a client at the department of spine surgery since she was 14 years old. A 3D reconstruction CT scan of the mother showed a noticeable bony ridge extending from the metopic suture upwards to involve the sagittal suture (red arrow heads). The black arrow shows a well demarcated bony ridge over the squamosal suture. A 3D reconstruction CT scan of the skull and spine showed the thick bony ridge of the metopic and the anterior sagittal as well as bilateral involvement of the squamosal, causing apparent anterior narrowing of the craniofacial contour. Note the lumbar scoliosis. A 12-year-old boy showed brachycephaly. A lateral skull radiograph of a 12-year-old boy with West syndrome showed premature sutural fusion, begetting an abnormal growth pattern, resulting in cranial deformity. The nature of the deformity depends on which sutures are involved, the time of onset and the sequence in which individual sutures fuse. In this child, brachycephalic secondary to craniosynostosis, which occurred because of bilateral early ossification of the coronal sutures, led to bi-coronal craniosynostosis. Thickened frontal bones and an ossified interclinoid ligament of the sella turcica were encountered. The lateral skull radiograph of a 38-year-old mother with a history of poor schooling achievements showed a very similar cranial contour of brachycephaly, thickening of the frontal bones and massive ossification of the clinoid ligament of the sella turcica. Maternal history revealed a history of multiple spontaneous miscarriages in the first trimester of more than five times. Investigating his parents revealed a brachycephalic mother with borderline intelligence. We affirm that the pattern of inheritance in the three boys was compatible with the X-linked recessive pattern of inheritance. Whole-exome sequencing showed non-definite phenotype/genotype correlation. CONCLUSIONS: The aim of this study was sixfold: firstly, to refute the common usage of the term idiopathic; secondly, we feel that it could be possible that West syndrome is a symptom complex rather than a separate diagnostic entity; thirdly, to further detect the genetic carrier, we explored the connection between the cranial bones in children with West syndrome with what has been clinically observed in their parents; fourthly, the early life anatomical disruptions of the cranial bones among these children seem to be heterogeneous; fifthly, it shows that the progressive deceleration in the development of this group of children is highly connected to the progressive closure of the cranial sutures; sixthly, we affirm that our findings are novel.

Evaluation of a New DNA Extraction Method on Challenging Bone Samples Recovered from a WWII Mass Grave.

Bones and teeth represent a common finding in ancient DNA studies and in forensic casework, even after a long burial. Genetic typing is the gold standard for the personal identification of skeletal remains, but there are two main factors involved in the successful DNA typing of such samples: (1) the set-up of an efficient DNA extraction method; (2) the identification of the most suitable skeletal element for the downstream genetic analyses. In this paper, a protocol based on the processing of 0.5 g of bone powder decalcified using Na2EDTA proved to be suitable for a semi-automated DNA extraction workflow using the Maxwell® FSC DNA IQ™ Casework Kit (Promega, Madison, WI, USA). The performance of this method in terms of DNA recovery and quality was compared with a full demineralisation extraction protocol based on Qiagen technology and kits. No statistically significant differences were scored according to the DNA recovery and DNA degradation index (p-values ≥ 0.176; r ≥ 0.907). This new DNA extraction protocol was applied to 88 bone samples (41 femurs, 19 petrous bones, 12 metacarpals and 16 molars) allegedly belonging to 27 World War II Italian soldiers found in a mass grave on the isle of Cres (Croatia). The results of the qPCR performed by the Quantifiler Human DNA Quantification kit showed values above the lowest Limit of Quantification (lLOQ; 23 pg/µL) for all petrous bones, whereas other bone types showed, in most cases, lower amounts of DNA. Replicate STR-CE analyses showed successful typing (that is, >12 markers) in all tests on the petrous bones, followed by the metacarpals (83.3%), femurs (52.2%) and teeth (20.0%). Full profiles (22/22 autosomal markers) were achieved mainly in the petrous bones (84.2%), followed by the metacarpals (41.7%). Stochastic amplification artefacts such as drop-outs or drop-ins occurred with a frequency of 1.9% in the petrous bones, whereas they were higher when the DNA recovered from other bone elements was amplified (up to 13.9% in the femurs). Overall, the results of this study confirm that petrous bone outperforms other bone elements in terms of the quantity and quality of the recovered DNA; for this reason, if available, it should always be preferred for genetic testing. In addition, our results highlight the need for accurate planning of the DVI operation, which should be carried out by a multi-disciplinary team, and the tricky issue of identifying other suitable skeletal elements for genetic testing. Overall, the results presented in this paper support the need to adopt preanalytical strategies positively related to the successful genetic testing of aged skeletal remains in order to reduce costs and the time of analysis.

From slenderness to robustness: Understanding long bone shape in sigmodontine rodents.

The morphological evolution of the appendicular skeleton may reflect the selective pressures specific to different environments, phylogenetic inheritance, or allometry. Covariation in bone shapes enhances morphological integration in response to ecological specializations. In contrast to previous multivariate studies using classical linear morphometry, we use a geometric morphometric approach to explore the morphological diversity of long bones and examine relationships between ecological categories and morphological characters in a species-rich and ecomorphologically diverse group of rodents. We examined the humerus, ulna, femur, and tibiofibula of 19 sigmodontine species with different locomotor types (ambulatory, quadrupedal-saltatorial, natatorial, semifossorial and scansorial) to investigate the influence of locomotor type and phylogeny on limb bone shape and morphological integration of the appendicular skeleton. This study represents the most detailed examination of the morphological diversity of long bones in sigmodontines, employing geometric morphometrics within an ecomorphological framework. Our results indicate that functional demands and evolutionary history jointly influence the shape of forelimb and hindlimb bones. The main variation in bone shape is associated with a slenderness-robustness gradient observed across all ecological categories. Quadrupedal-saltatorial species, with their need for agility, possess slender and elongated limbs, while natatorial and semifossorial species exhibit shorter and more robust bone shapes, suited for their respective environments. This gradient also influences bone covariation within limbs, demonstrating interconnectedness between elements. We found functional covariation between the ulna-tibiofibula and humerus-tibiofibula, likely important for propulsion, and anatomical covariation between the humerus-ulna and femur-tibiofibula, potentially reflecting overall limb structure. This study demonstrates that the versatile morphology of long bones in sigmodontines plays a critical role in their remarkable ecological and phylogenetic diversification.

Maxillofacial Bone Involvement in Fibro-Osseous Lesions: Emphasizing the Significance of Differential Diagnosis.

The World Health Organization's (WHO) 2022 update on the classification of odontogenic and maxillofacial bone tumors has revolutionized diagnostic and treatment paradigms by integrating novel molecular insights. Fibro-osseous lesions of the maxillo-facial bones constitute a heterogeneous group encompassing fibrous dysplasia, Psammomatoid Ossifying Fibroma (PSOF), Juvenile Trabecular Ossifying Fibroma (JTOF), and other variants. Despite histological similarities, their distinct clinical manifestations and prognostic implications mandate precise differentiation. The intricacies of diagnosing fibro-osseous lesions pose challenges for pathologists, maxillofacial surgeons, dentists and oral surgeons, underscoring the importance of a systematic approach to ensure optimal patient management. Herein, we present two cases, fibrous dysplasia and Cemento-Ossifying Fibroma, detailing their clinical encounters and management strategies. Both patients provided informed consent for publishing their data and images, adhering to ethical guidelines.

Jawbone quality classification in dental implant planning and placement studies. A scoping review.

Aim: Cone beam computed tomography has become an attractive method for implant planning. However, in most cases, not all the information is taken advantage of and often the radiographic evaluation of bone quality is based on subjective assessment by the individual clinician. Therefore, the aim of this study was to examine classifications of bone tissue characteristics and methods for assessing them in dental implant planning and placement studies. Materials and Methods: Three databases (Pubmed, Scopus, Web of Science) were searched using specific index terms: "Bone quality, bone quantity, bone density, cone-beam CT and cone-beam computed tomography". Three reviewers selected titles and analyzed abstracts according to inclusion and exclusion criteria. Some descriptions of bone tissue characteristics (bone quality, density, and quantity) used before or during dental implant placement were selected and categorized. Results: The search yielded 442 titles. A total of 32 articles were selected and read in full text. Seventeen articles were considered relevant. Different classification systems were found to evaluate bone tissue characteristics as well as different examination protocols. Thirteen publications included in this review reported on bone quality and quantity using the Lekholm and Zarb classification. However, only four studies implemented and/or proposed modifications of the Lekholm and Zarb system. Four other publications described bone quality according to different classification systems such as Misch, University of California Los Angeles (UCLA), or Trisi and Rao. The assessment methods were often briefly described (or not described at all in one publication). Of the articles analyzed, five presented observer performance, whereas three presented diagnostic accuracy of the assessment method. Conclusion: Currently, there are different classification systems applied to dental implant planning and placement, particularly regarding whether bone quality or quantity affects treatment outcomes. However, most authors have not validated the diagnostic accuracy and reproducibility of the classification used. Therefore, it is necessary to develop a classification system consistent with characteristics of bone tissue, taking into consideration an adequate description of bone tissue assessment methods, their diagnostic accuracy, and observer performance.