Primary school mobile dental program in New South Wales, Australia: protocol for the evaluation of a state government oral health initiative.

BACKGROUND: Socioeconomically disadvantaged children are disproportionately affected by oral disease. Mobile dental services help underserved communities overcome barriers to accessing health care, including time, geography, and trust. The NSW Health Primary School Mobile Dental Program (PSMDP) is designed to provide diagnostic and preventive dental services to children at their schools. The PSMDP is mainly targeted toward high-risk children and priority populations. This study aims to evaluate the program's performance across five local health districts (LHDs) where the program is being implemented. METHODS: The evaluation will use routinely collected administrative data, along with other program-specific data sources, from the district public oral health services to conduct a statistical analysis that determines the reach and uptake of the program, its effectiveness, and the associated costs and cost-consequences. The PSMDP evaluation program utilises data from Electronic Dental Records (EDRs) and other data sources, including patient demographics, service mix, general health, oral health clinical data and risk factor information. The overall design includes cross-sectional and longitudinal components. The design combines comprehensive output monitoring across the five participating LHDs and investigates the associations between socio-demographic factors, service patterns and health outcomes. Time series analysis using difference-in-difference estimation will be conducted across the four years of the program, involving services, risk factors, and health outcomes. Comparison groups will be identified via propensity matching across the five participating LHDs. An economic analysis will estimate the costs and cost-consequences for children who participate in the program versus the comparison group. DISCUSSION: The use of EDRs for oral health services evaluation research is a relatively new approach, and the evaluation works within the limitations and strengths of utilising administrative datasets. The study will also provide avenues to improve the quality of data collected and system-level improvements to better enable future services to be aligned with disease prevalence and population needs.

Forest ecosystem services contribution to food security of vulnerable group: a case study from India.

The main objective of the study is to analyze the linkages between ecosystem services and food security of the Soliga tribes in India. This study mainly focuses on four dimensions of ecosystem services, (i) production and providing of wild food and water resources, (availability); (ii) rural livelihood, employment opportunities, and income generation (accessibility); and (iii) utilization of ecosystem services, persons are capable of increasing energy and nutrition from food (utilization); (iv) adequate and enough food is accessible, reachable, and utilizable on a dependable, sustainable basis (stability). This study has used primary data for analyzing the linkages between ecosystem services and food security of (Soligas tribe in Karnataka) 210 households were interviewed in South India. The results of the study is found that forest provisioning ecosystem services major role in their everyday food and nutrition. The main policy implication of the study is integrating ecosystem services and food security for sustainable agricultural production of tribal communities.

Economic value of regulating ecosystem services: a comprehensive at the global level review.

This study is the first meta-regression analysis of the economic value of regulating ecosystem services at the global level. Most of the regulating ecosystem services have not been properly estimated in terms of economic value and are also ignored in the everyday decision-making process. This study has reviewed 100 publications and included 275 economic value estimates. This study includes explanatory variables in the meta-analysis to account for these influences on the estimated economic value of regulating ecosystem services. This study has estimated the economic value of regulating ecosystem services at US$29.085 trillion for 2015. This study also has found that the values of climate and water regulations are the highest contributors to the total value of regulating ecosystem services. This study indicates that the results of meta-analysis might be helpful to decision-making with respect to three aspects: first, planning and management of urban green cover for sustainable cities; second, integration of the economic value of all the regulating ecosystem services; third, budget allocation for conservation and improvement of regulating ecosystem services for the present and future generations.

Effect of diosmin on apoptotic signaling molecules in N-nitrosodiethylamine-induced hepatocellular carcinoma in experimental rats.

The aim of the present study was to evaluate the antioxidant and chemopreventive efficiency of diosmin against N-nitrosodiethylamine (NDEA)-induced hepatocarcinogenesis in adult male rats. Rats were classified into four groups as follows: Group I: Control, Group II: NDEA-induced hepatocellular carcinogenic rats, Group III: Cancer-bearing animals treated with diosmin (200 mg/kg/body weight/day) orally for 28 days, Group IV: Control animals treated with diosmin (200 mg/kg/body weight/day) alone for 28 days. The model of NDEA-induced HCC rats elicited significant increases in alpha-fetoprotein (AFP), lipid peroxidation (LPO) and increase in anti-apoptotic proteins (Bcl-2, Bcl-xL and Mcl-1) with a concomitant significant decline in liver antioxidant enzymes, pro-apoptotic (Bax and Bad) and caspase-3 &-9 proteins. The oral administration of diosmin as a protective agent normalized the altered levels of AFP, LPO, antioxidant enzymes, pro- and anti-apoptotic proteins as well as caspase-3 and -9 proteins. Transmission electron microscopical studies also revealed that treatment of diosmin has a perspective anti-cancer activity by rearranging hepatic cell structure and its integrity. Results of this study suggest that diosmin may be one of a pharmacological and therapeutic representative against hepatocellular carcinoma.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients. OBJECTIVES: Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study. METHODS: Trio-based exome sequencing was performed on all 12 patients included in this study, which found a de novo truncating mutation in ASXL3. Detailed phenotypic information and patient images were collected and summarised as part of this study. RESULTS: By obtaining genotype:phenotype data, we have been able to demonstrate a second mutation cluster region within ASXL3. This report expands the phenotype of older patients with BRPS; common emerging features include severe intellectual disability (11/12), poor/ absent speech (12/12), autistic traits (9/12), distinct face (arched eyebrows, prominent forehead, high-arched palate, hypertelorism and downslanting palpebral fissures), (9/12), hypotonia (11/12) and significant feeding difficulties (9/12) when young. DISCUSSION: Similarities in the patients reported previously in comparison with this cohort included their distinctive craniofacial features, feeding problems, absent/limited speech and intellectual disability. Shared behavioural phenotypes include autistic traits, hand-flapping, rocking, aggressive behaviour and sleep disturbance. CONCLUSIONS: This series expands the phenotypic spectrum of this severe disorder and highlights its surprisingly high frequency. With the advent of advanced genomic screening, we are likely to identify more variants in this gene presenting with a variable phenotype, which this study will explore.

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened index fingers; hallux valgus; distinctive face; respiratory compromise. OBJECTIVES: To identify the genetic aetiology of Chitayat syndrome and identify a unifying cause for this specific form of hyperphalangism. METHODS: Through ongoing collaboration, we had collected patients with strikingly-similar phenotype. Trio-based exome sequencing was first performed in Patient 2 through Deciphering Developmental Disorders study. Proband-only exome sequencing had previously been independently performed in Patient 4. Following identification of a candidate gene variant in Patient 2, the same variant was subsequently confirmed from exome data in Patient 4. Sanger sequencing was used to validate this variant in Patients 1, 3; confirm paternal inheritance in Patient 5. RESULTS: A recurrent, novel variant NM_006494.2:c.266A>G p.(Tyr89Cys) in ERF was identified in five affected individuals: de novo (patient 1, 2 and 3) and inherited from an affected father (patient 4 and 5). p.Tyr89Cys is an aromatic polar neutral to polar neutral amino acid substitution, at a highly conserved position and lies within the functionally important ETS-domain of the protein. The recurrent ERF c.266A>C p.(Tyr89Cys) variant causes Chitayat syndrome. DISCUSSION: ERF variants have previously been associated with complex craniosynostosis. In contrast, none of the patients with the c.266A>G p.(Tyr89Cys) variant have craniosynostosis. CONCLUSIONS: We report the molecular aetiology of Chitayat syndrome and discuss potential mechanisms for this distinctive phenotype associated with the p.Tyr89Cys substitution in ERF.

2016 Comprehensive Update of the Banff Working Group on Liver Allograft Pathology: Introduction of Antibody-Mediated Rejection.

The Banff Working Group on Liver Allograft Pathology reviewed and discussed literature evidence regarding antibody-mediated liver allograft rejection at the 11th (Paris, France, June 5-10, 2011), 12th (Comandatuba, Brazil, August 19-23, 2013), and 13th (Vancouver, British Columbia, Canada, October 5-10, 2015) meetings of the Banff Conference on Allograft Pathology. Discussion continued online. The primary goal was to introduce guidelines and consensus criteria for the diagnosis of liver allograft antibody-mediated rejection and provide a comprehensive update of all Banff Schema recommendations. Included are new recommendations for complement component 4d tissue staining and interpretation, staging liver allograft fibrosis, and findings related to immunosuppression minimization. In an effort to create a single reference document, previous unchanged criteria are also included.

Local structure, composition, and crystallization mechanism of a model two-phase "composite nanoglass".

We report a detailed study of the local composition and structure of a model, bi-phasic nanoglass with nominal stoichiometry Cu55Nb45. Three dimensional atom probe data suggest a nanoscale-phase-separated glassy structure having well defined Cu-rich and Nb-rich regions with a characteristic length scale of ≈ 3 nm. However, extended x-ray absorption fine structure analysis indicates subtle differences in the local environments of Cu and Nb. While the Cu atoms displayed a strong tendency to cluster and negligible structural order beyond the first coordination shell, the Nb atoms had a larger fraction of unlike neighbors (higher chemical order) and a distinctly better-ordered structural environment (higher topological order). This provides the first experimental indication that metallic glass formation may occur due to frustration arising from the competition between chemical ordering and clustering. These observations are complemented by classical as well as ab initio molecular dynamics simulations. Our study indicates that these nanoscale phase-separated glasses are quite distinct from the single phase nanoglasses (studied by Gleiter and others) in the following three respects: (i) they contain at least two structurally and compositionally distinct, nanodispersed, glassy phases, (ii) these phases are separated by comparatively sharp inter-phase boundaries, and (iii) thermally induced crystallization occurs via a complex, multi-step mechanism. Such materials, therefore, appear to constitute a new class of disordered systems that may be called a composite nanoglass.

Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.

Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. Over 90% of patients with OI have a mutation in COL1A1/COL1A2, which shows an autosomal dominant pattern of inheritance. In-depth phenotyping and in particular, studies involving manifestations in the skin connective tissue have not previously been undertaken in OI. The aims of the study were to perform histological and ultrastructural examination of skin biopsies in a cohort of patients with OI; to identify common and distinguishing features in order to inform genotype-phenotype correlation; and to identify common and distinguishing features between the different subtypes of OI. As part of the RUDY (Rare Diseases in Bone, Joints and/or Blood Vessels) study, in collaboration with the NIHR Rare Diseases Translational Research Collaboration, we undertook a national study of skin biopsies in patients with OI. We studied the manifestations in the skin connective tissue and undertook in-depth clinical and molecular phenotyping of 16 patients with OI. We recruited 16 patients: analyses have shown that in type 1 collagen mutation positive patients (COL1A1/ COL1A2) (n-4/16) consistent findings included: variable collagen fibril diameter (CFD) and presence of collagen flowers. Histological examination in these patients showed an increase in elastic fibers that are frequently fragmented and clumped. These observations provide evidence that collagen flowers and CFD variability are consistent features in OI due to type 1 collagen defects and reinforce the need for accurate phenotyping in conjunction with genomic analyses.

Development of life story experience (LSE) scales for migrant dentists in Australia: a sequential qualitative-quantitative study.

INTRODUCTION: The integration of qualitative and quantitative approaches introduces new avenues to bridge strengths, and address weaknesses of both methods. OBJECTIVE: To develop measure(s) for migrant dentist experiences in Australia through a mixed methods approach. METHODS: The sequential qualitative-quantitative design involved first the harvesting of data items from qualitative study, followed by a national survey of migrant dentists in Australia. Statements representing unique experiences in migrant dentists' life stories were deployed the survey questionnaire, using a five-point Likert scale. Factor analysis was used to examine component factors. RESULTS: Eighty-two statements from 51 participants were harvested from the qualitative analysis. A total of 1,022 of 1,977 migrant dentists (response rate 54.5%) returned completed questionnaires. Factor analysis supported an initial eight-factor solution; further scale development and reliability analysis led to five scales with a final list of 38 life story experience (LSE) items. Three scales were based on home country events: health system and general lifestyle concerns (LSE1; 10 items), society and culture (LSE4; 4 items) and career development (LSE5; 4 items). Two scales included migrant experiences in Australia: appreciation towards Australian way of life (LSE2; 13 items) and settlement concerns (LSE3; 7 items). CONCLUSION: The five life story experience scales provided necessary conceptual clarity and empirical grounding to explore migrant dentist experiences in Australia. Being based on original migrant dentist narrations, these scales have the potential to offer in-depth insights for policy makers and support future research on dentist migration.

Structural studies of haemoglobin from pisces species shortfin mako shark (Isurus oxyrinchus) at 1.9 Å resolution.

Haemoglobin (Hb) is a tetrameric iron-containing protein that carries oxygen from the lungs to tissues and carbon dioxide from tissues back to the lungs. Pisces are the advanced aquatic vertebrates capable of surviving at wide depth ranges. The shortfin mako shark (SMS) is the pelagic, largest, fastest and most sophisticated species of the shark kingdom with well developed eyes. Mostly the pisces species are cold blooded in nature. Distinctly, the SMSs are warm-blooded animals with an advanced circulatory system. SMSs are capable of maintaining elevated muscle temperatures up to 33 K above the ambient water temperatures at a depth of 150-500 m. SMSs have a diverged air-breathing mechanism compared with other vertebrates. The haemoglobin molecule consists of four polypeptide chains, namely two α chains, each with 140 amino acids and two ß chains each having 136 amino acids. The SMS Hb was found to crystallize in monoclinic space group P21 using the hanging-drop vapour-diffusion method at room temperature. The crystal packing parameters for the SMS Hb structure contain one whole biological molecule in the asymmetric unit with a solvent content of 47%. The SMS Hb quaternary structural features interface-interface interactions and heme binding sites are discussed with different state Hbs and the results reveal that SMS Hb adopts an unliganded deoxy T state conformation.

In situ fabrication of cerium-incorporated hydroxyapatite/magnetite nanocomposite coatings with bone regeneration and osteosarcoma potential.

With the ultimate goal of providing a novel platform able to inhibit bacterial adhesion, biofilm formation, and anticancer properties, cerium-doped hydroxyapatite films enhanced with magnetite were developed via spin-coating. The unique aspect of the current study is the potential for creating cerium-doped hydroxyapatite/Fe3O4 coatings on a titanium support to enhance the functionality of bone implants. To assure an increase in the bioactivity of the titanium surface, alkali pretreatment was done before deposition of the apatite layer. Scanning electron microscopy (SEM) in conjunction with energy-dispersive X-ray (EDX) spectroscopy, X-ray diffraction (XRD) analysis, and Fourier transform-infrared (FTIR) spectroscopy were used to evaluate coatings. Coatings demonstrated good efficacy against Staphylococcus aureus and Escherichia coli, with the latter showing the highest efficacy. In vitro bioactivity in simulated body fluid solution showed this material to be proficient for bone-like apatite formation on the implant surface. Electrochemical impedance spectroscopy was undertaken on intact coatings to examine the barrier properties of composites. We found that spin-coating at 4000 rpm could greatly increase the total resistance. After seeding with osteoblastic populations, Ce-HAP/Fe3O4 materials the adhesion and proliferation of cells. The heating capacity of the Ce-HAP/Fe3O4 film was optimal at 45 °C at 15 s at a frequency of 318 kHz. Osseointegration depends on many more parameters than hydroxyapatite production, so these coatings have significant potential for use in bone healing and bone-cancer therapy.

Immigrants experience oral health care inequity: findings from Australia's National Study of Adult Oral Health.

BACKGROUND: Oral health service utilization contributes to positive oral health and indicates realised access to services. The study aimed to describe patterns of oral health service use among overseas-born and Australian-born populations and assess equity in access to services. METHODS: The study used data from Australia's National Study of Adult Oral Health 2017-2018 and was guided by the Aday and Andersen framework of access to health and Australia's National Oral Health Plan. Descriptive analyses of service use by perceived need, enabling and predisposing factors were compared between four groups: Australian-born and overseas-born who mainly speak English and Australian-born and overseas-born who mainly speak a language other than English. RESULTS: Overseas-born who mainly speak a language other than English experienced greater oral health care inequity, largely driven by financial difficulty (avoided care due to cost: 42% vs 27%-28%; avoided/delayed visiting due to cost: 48% vs. 37%-38%; cost prevented treatment: 32% vs. 18%-24%). The most favourable visiting patterns were among the Australian-born population who speak a language other than English. CONCLUSIONS: The study shows clear inequity experienced among immigrants in accessibility as measured through indicators of oral health care utilization and factors related to inequity, such as the ability to pay for services.

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties, and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome. This article describes seven previously unreported patients with deletions at 2q33.1, all partially overlapping the previously described critical region for the 2q33.1 microdeletion syndrome. The deletions ranged in size from 35 kb to 10.4 Mb, with the smallest deletion entirely within the SATB2 gene. Patients demonstrated significant developmental delay and challenging behaviour, a particular behavioural phenotype that seems to be emerging with more reported patients with this condition. One patient in this cohort has a deletion entirely within SATB2 and has a cleft palate, whereas several patients with larger deletions have a high arched palate. In addition, one other patient has significant orthopaedic problems with ligamentous laxity. Interestingly, this patient has a deletion that lies just distal to SATB2. The orthopaedic problems have not been reported previously and are possibly an additional feature of this syndrome. Overall, this report provides further evidence that the SATB2 gene is the critical gene in this microdeletion syndrome. In addition, because the individuals in this study range in age from 3-19 years, these patients will help define the natural progression of the phenotype in patients with this microdeletion.

Machine learning techniques for forecasting agricultural prices: A case of brinjal in Odisha, India.

BACKGROUND: Price forecasting of perishable crop like vegetables has importance implications to the farmers, traders as well as consumers. Timely and accurate forecast of the price helps the farmers switch between the alternative nearby markets to sale their produce and getting good prices. The farmers can use the information to make choices around the timing of marketing. For forecasting price of agricultural commodities, several statistical models have been applied in past but those models have their own limitations in terms of assumptions. METHODS: In recent times, Machine Learning (ML) techniques have been much successful in modeling time series data. Though, numerous empirical studies have shown that ML approaches outperform time series models in forecasting time series, but their application in forecasting vegetables prices in India is scared. In the present investigation, an attempt has been made to explore efficient ML algorithms e.g. Generalized Neural Network (GRNN), Support Vector Regression (SVR), Random Forest (RF) and Gradient Boosting Machine (GBM) for forecasting wholesale price of Brinjal in seventeen major markets of Odisha, India. RESULTS: An empirical comparison of the predictive accuracies of different models with that of the usual stochastic model i.e. Autoregressive integrated moving average (ARIMA) model is carried out and it is observed that ML techniques particularly GRNN performs better in most of the cases. The superiority of the models is established by means of Model Confidence Set (MCS), and other accuracy measures such as Mean Error (ME), Root Mean Square Error (RMSE), Mean Absolute Error (MAE) and Mean Absolute Prediction Error (MAPE). To this end, Diebold-Mariano test is performed to test for the significant differences in predictive accuracy of different models. CONCLUSIONS: Among the machine learning techniques, GRNN performs better in all the seventeen markets as compared to other techniques. RF performs at par with GRNN in four markets. The accuracies of other techniques such as SVR, GBM and ARIMA are not up to the mark.

Total-reflection inelastic X-ray scattering from a 10-nm thick La0.6Sr0.4CoO3 thin film.

To study equilibrium changes in composition, valence, and electronic structure near the surface and into the bulk, we demonstrate the use of a new approach, total-reflection inelastic x-ray scattering, as a sub-keV spectroscopy capable of depth profiling chemical changes in thin films with nanometer resolution. By comparing data acquired under total x-ray reflection and penetrating conditions, we are able to separate the O K-edge spectra from a 10 nm La0.6Sr0.4CoO3 thin film from that of the underlying SrTiO3 substrate. With a smaller wavelength probe than comparable soft x-ray absorption measurements, we also describe the ability to easily access dipole-forbidden final states, using the dramatic evolution of the La N4,5 edge with momentum transfer as an example.

Type II myosin regulatory light chain relieves auto-inhibition of myosin-heavy-chain function.

The F-actin based motor protein myosin II has a key role in cytokinesis. Here we show that the Schizosaccharomyces pombe regulatory light chain (RLC) protein Rlc1p binds to Myo2p in manner that is dependent on the IQ sequence motif (the RLC-binding site), and that Rlc1p is a component of the actomyosin ring. Rlc1p is important for cytokinesis at all growth temperatures and is essential for this process at lower temperatures. Interestingly, all deleterious phenotypes associated with the loss of Rlc1p function are suppressed by deletion of the RLC binding site on Myo2p. We conclude that the sole essential function of RLCs in fission yeast is to relieve the auto-inhibition of myosin II function, which is mediated by the RLC-binding site, on the myosin heavy chain (MHC).

Inhibitory effects of Indigofera aspalathoides on 20-methylcholanthrene-induced chemical carcinogenesis in rats.

BACKGROUND: The anticancer and antioxidant effects of the aqueous extract of Indigofera aspalathoides on 20-methylcholanthrene (20-MCA) induced fibrosarcoma were investigated in male albino rats. MATERIALS AND METHODS: The rats were divided into four different groups, each group consisting of six animals. Group I animals were served as normal control, Group II animals were fibrosarcoma-bearing animals after the incubation period, Group III animals were fibrosarcoma-bearing animals, treated with aqueous extract of I. aspalathoides intraperitoneally at a dose of 250 mg/kg b.w. for 30 days and Group IV animals were administered with the aqueous extract of I. aspalathoides alone, at a dose of 250 mg/kg b.w. for 30 days, served as drug control animals. After the experimental period, all the rats were weighed and killed by cervical decapitation. The serum was separated from the blood for analysis. The weights of the liver and the kidneys were noted. The fibrosarcoma was proved by pathological examinations. The liver and kidney tissues were excised and then homogenized in an ice-cold buffer. These tissues were used for biochemical analysis. RESULTS: The activities of antioxidant enzymes, e.g. catalase (CAT), glutathione peroxidase (GPx) and superoxide dismutase (SOD), in blood serum, liver, and kidney of control and experimental animals, respectively, have been reported. CONCLUSION: The present observations suggested that the aqueous extract of I. aspalathoides treatment enhanced the recovery from 20-MCA-induced fibrosarcoma due to its antioxidants and antineoplastic properties.

Electrical and magnetic properties of nanocrystalline BiFeO3 prepared by high energy ball milling and microwave sintering.

A new synthesis route with high energy ball milling and microwave sintering is used to obtain nanocrystalline BiFeO3 with improved dielectric and magnetic properties. Electrical and magnetic properties are compared with a conventionally sintered microcrystalline BiFeO3. It is found that the dielectric constant is increased more than one order of magnitude, electrical resistivity by six orders of magnitude and remnant polarization value is increased by 4-5 times for nanocrystalline BiFeO3 in comparison to conventionally sintered microcrystalline BiFeO3. Nanocrystalline BiFeO3 is seen to have ferromagnetic behavior whereas microcrystalline BiFeO3 is known to be antiferromagnetic.

High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.

OBJECTIVES: Osteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; extra-skeletal features in OI include blue sclerae, dentinogenesis imperfecta, skin laxity and joint hyper-extensibility. Most patients with OI are thought to have a low bone mass but contrary to expectations there are certain forms of OI with high bone mass which this study explores in further detail. METHOD: A cohort of n = 6 individuals with pathogenic variants in BMP1 and the C-propeptide cleavage variants in COL1A1 were included in this study. Detailed clinical and radiological phenotyping was done and correlated with genotype to identify patterns of clinical presentation and fracture history in this cohort of patients. This data was compared to previously reported literature in this group. RESULTS: 2 patients with BMP1 and 4 patients with pathogenic variants in C-propeptide region in COL1A1 were deep-phenotyped as part of this study and 1 patient with C-propeptide variant in COL1A1, showed low bone mineral density. In those with an elevated bone mineral density, this became even more apparent on bisphosphonate therapy. Patients in this cohort had variable clinical presentation ranging from antenatal presentation to more of an insidious course resulting in later confirmation of genetic diagnosis up to 19 years of age. CONCLUSIONS: Patients with pathogenic variants in the C-propeptide region of COL1A1/A2 and BMP1 appear to have a high bone mass phenotype with increased sensitivity to bisphosphonate therapy. It is important to closely monitor patients with these genotypes to assess their response to therapy and tailor their treatment regime accordingly.