Exploring the rise and diversity of health and societal issues that use a public health approach: A scoping review and narrative synthesis.

There is an increase in calls across diverse issues for a "public health approach" however, it is not clear whether there is any shared understanding in approach in its conceptualisation or implementation. Our aims were to (1) identify and categorise the issues which discuss a public health approach within published literature since 2010, (2) chart the descriptions and applications of public health approaches across and within four purposively sampled categories of issues, and (3) capture any evaluations conducted. A scoping review of published literature was undertaken; Seven leading databases were searched: AMED, APA PsycInfo, ASSIA, CINAHL complete, Cochrane Library (Review), Embase, and MEDLINE for articles published between 2010 and 2022 which have applied, described or called for a "public health approach" to address any issue.

Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation.

Background: Osteosclerotic metaphyseal dysplasia (OSMD, OMIM 615198) is an extremely rare autosomal recessive osteopetrosis disorder resulting in a distinctive pattern of osteosclerosis of the metaphyseal margins of long tubular bones. To date, only thirteen cases have been reported (eight molecularly confirmed). Five homozygous sequence variants in the leucine-rich repeat kinase 1 () gene have been identified to cause OSMD.

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing. We identified a homozygous missense mutation in SEC16B in a child with vertebral fractures, leg bowing, short stature, muscular hypotonia, and bone densitometric and histomorphometric features in keeping with OI with distinct ultrastructural features. In line with the putative function of SEC16B as a regulator of trafficking between the ER and the Golgi complex, we showed that patient fibroblasts accumulated type I procollagen in the ER and exhibited a general trafficking defect at the level of the ER.

Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.

Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab treatment in clinical practice, we convened with the objective of sharing these practice-based insights on the use of burosumab in children and adolescents with XLH. We attended two virtual meetings, then discussed key questions Within3, a virtual online platform.

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal dysplasia in three unrelated families with variable skeletal manifestations. The six affected individuals from three families had severe short stature with extreme shortening of forelimbs, short long-bones, and metatarsals, and brachydactyly (family 1); mild short stature, platyspondyly, and metaphyseal irregularities (family 2); or a prenatally lethal skeletal dysplasia with kidney features suggestive of a ciliopathy (family 3).

Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.

Background/objectives: In England, children (0-18 years) with severe, complex and atypical osteogenesis imperfecta (OI) are managed by four centres (Birmingham, Bristol, London, Sheffield) in a 'Highly Specialised Service' (HSS OI); affected children with a genetic origin for their disease that is not in or form the majority of the 'atypical' group, which has set criteria for entry into the service. We have used the data from the service to assess the range and frequency of non-collagen pathogenic variants resulting in OI in a single country.

Methods: Children with atypical OI were identified through the HSS OI service database.

Zoledronic Acid vs Placebo in Pediatric Glucocorticoid-induced Osteoporosis: A Randomized, Double-blind, Phase 3 Trial.

Context: Glucocorticoids (GCs) prescribed for chronic pediatric illnesses are associated with osteoporotic fractures.

Objective: This study aims to determine the efficacy and safety of intravenous (IV) zoledronic acid (ZA) compared with placebo to treat pediatric GC-induced osteoporosis (GIO).

Methods: Children aged 5 to 17 years with GIO were enrolled in this multinational, randomized, double-blind, placebo-controlled phase 3 trial (ClinicalTrials.

A Three-Year Longitudinal Study Comparing Bone Mass, Density, and Geometry Measured by DXA, pQCT, and Bone Turnover Markers in Children with PKU Taking L-Amino Acid or Glycomacropeptide Protein Substitutes.

Unlabelled: In patients with phenylketonuria (PKU), treated by diet therapy only, evidence suggests that areal bone mineral density (BMDa) is within the normal clinical reference range but is below the population norm.

Aims: To study longitudinal bone density, mass, and geometry over 36 months in children with PKU taking either amino acid (L-AA) or casein glycomacropeptide substitutes (CGMP-AA) as their main protein source.

Methodology: A total of 48 subjects completed the study, 19 subjects in the L-AA group (median age 11.

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Context: Growth hormone insensitivity (GHI) in children is characterized by short stature, functional insulin-like growth factor (IGF)-I deficiency, and normal or elevated serum growth hormone (GH) concentrations. The clinical and genetic etiology of GHI is expanding.

Objective: We undertook genetic characterization of short stature patients referred with suspected GHI and features which overlapped with known GH-IGF-I axis defects.

Neonatal Bone Disorders.

Neonatologists care for newborns with either an antenatal suspicion or postnatal diagnosis of bone disease. With improved ultrasound imaging techniques, more cases of neonatal bone disorders are identified antenatally and this requires further diagnostic/molecular testing either antenatally or soon after birth for confirmation of the diagnosis and facilitating subsequent management. Prompt diagnosis is vital in certain conditions where initiation of treatment is time critical and life saving.

Fifteen-minute consultation: Fractures in non-ambulant children with cerebral palsy.

Objective: To describe a safeguarding decision pathway for the assessment of osteopenic fractures in non-ambulant children with cerebral palsy.

Method: Literature review and consensus practice of a child safeguarding team, including clinicians and social workers.

Conclusion: Low-energy fractures of the lower limb in non-ambulant children with cerebral palsy are relatively common and explained by the presence of reduced bone strength, in the absence of any other unexplained injuries or safeguarding concerns.

Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD.

Objectives: X-Linked hypophosphataemic rickets (XLH) is a rare multi-systemic disease of mineral homeostasis that has a prominent skeletal phenotype. The aim of this study was to describe additional comorbidities in XLH patients compared with general population controls.

Methods: The Clinical Practice Research Datalink (CPRD) GOLD was used to identify a cohort of XLH patients (1995-2016), along with a non-XLH cohort matched (1 : 4) on age, sex and GP practice.

Nutritional rickets under 16 years: UK surveillance results.

Objective: The UK national incidence of nutritional rickets is unknown. We aimed to describe the incidence, presentation and clinical management of children under 16 years with nutritional rickets in the UK presenting to secondary care.

Methods: Prospective data were collected monthly between March 2015 and March 2017 from 3500 consultant paediatricians using British Paediatric Surveillance Unit methodology.

Investigation and management of hypocalcaemia.

Hypocalcaemia is a common clinical scenario in children with a range of aetiological causes. It will often present with common symptoms but may occasionally be identified in an asymptomatic child. An understanding of the physiological regulation of plasma calcium is important in understanding the potential cause of hypocalcaemia and its appropriate management.

Correction to: Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.

The original version of this article [1] unfortunately included an error to an author's name. Paul Arundel was inadvertently presented as Paul Arunde.

Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis.

Background: X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a prominent musculoskeletal phenotype. We aim here to improve understanding of the prevalence of XLH across the life course and of overall survival among people with XLH.

Methods: This was a population-based cohort study using a large primary care database in the United Kingdom (UK) from 1995 to 2016.

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.

Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments.

Bone density in children: what are we measuring?

The measurement of bone density is a frequent request in the assessment of children with concerns about bone health due to chronic disease or recurrent fractures. Dual energy X-ray absorptiometry (DXA) remains the recommended modality and is widely available. However, the interpretation and reporting of results in growing individuals needs to be undertaken by individuals who are familiar with scanning children and the potential pitfalls.

Growth hormone prescribing patterns in the UK, 2013-2016.

Introduction: Prescribing of recombinant human growth hormone (rhGH) for growth failure in UK children is based on guidance from the National Institute for Health and Care Excellence. In 2013, the British Society for Paediatric Endocrinology and Diabetes initiated a national audit of newly prescribed rhGH treatment for children and adolescents. In this review, we have examined prescribing practices between 2013 and 2016.

Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations.

Background: Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, seizures, premature tooth loss, and fractures. Data from patients with HPP and their healthcare resource utilization are lacking. We evaluated healthcare utilization for 3 patients with differing severities of HPP.

Cumulative radiation exposure from medical imaging and associated lifetime cancer risk in children with osteogenesis imperfecta.

Objectives: To estimate the cumulative effective dose of radiation (E) and additional lifetime attributable risk (LAR) of cancer from ionizing radiation in children with osteogenesis imperfecta (OI), who require frequent imaging for fractures and bone densitometry (DXA) surveillance. Also, to evaluate the pattern of long bone fractures.

Methods: We reviewed all imaging (x-rays, DXA and computed tomography [CT]) conducted in a cohort of children with OI with a minimum observation period of 5 years.

Rickets.

Rickets is a bone disease associated with abnormal serum calcium and phosphate levels. The clinical presentation is heterogeneous and depends on the age of onset and pathogenesis but includes bowing deformities of the legs, short stature and widening of joints. The disorder can be caused by nutritional deficiencies or genetic defects.