Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.

Kyphomelic dysplasia is a rare heterogenous group of skeletal dysplasia, characterized by bowing of the limbs, severely affecting femora with distinct facial features. Despite its first description nearly four decades ago, the precise molecular basis of this condition remained elusive until the recent discovery of de novo variants in the KIF5B-related kyphomelic dysplasia. We ascertained two unrelated consanguineous families with kyphomelic dysplasia.

Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report.

Case: We report a 15-year-old adolescent boy being followed up for 6 years with osteogenesis imperfecta (OI). Genetic testing of this child revealed a novel missense variant c.925C>T p.

Successful transport across continents of GMP-manufactured and cryopreserved culture-expanded human fetal liver-derived mesenchymal stem cells for use in a clinical trial.

Introduction: Cell therapy has been increasingly considered to treat diseases, but it has been proven difficult to manufacture the same product at multiple manufacturing sites. Thus, for a wider implementation an alternative is to have one manufacturing site with a wide distribution to clinical sites. To ensure administration of a good quality cell therapy product with maintained functional characteristics, several obstacles must be overcome, which includes for example transfer of knowledge, protocols and procedures, site assessment, transportation and preparation of the product.

Developing and transferring a children's surgical training program from India to Africa a south-to-south global initiative.

Purpose: The availability of children's surgical care in lower middle-income countries is lacking. The authors describe a hub and spoke global training initiative in children's surgery for adult teams from district hospitals (spokes) comprising general and orthopaedic surgeons, anaesthetists, and nurses and specialist children's surgical trainers from tertiary centres (hubs) in delivering the course.

Methods: The training course developed in Vellore, trained several sets of district hospital adult teams and trainer teams in India.

Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome.

Case: Bohring-Opitz syndrome is characterized by facial dysmorphism, intellectual disability, specific upper-limb posturing, and developmental delay. We report a case of 14-year-old girl with bilateral hip pain and loss of mobility. Clinical exome sequencing showed a proband with a heterozygous pathogenic nonsense variant in ASXL1 gene.

Remodeling of Rotational Malunion of Femoral Shaft in Children.

Background: The degree of expected rotational remodeling in femoral shaft fractures is poorly understood, partly because of the difficulty in accurately measuring rotational alignment radiographically before and after treatment. This study aimed to assess the degree of rotational remodeling in the short-term following post-traumatic fracture shaft of the femur with > 10° rotational malunion in children under 15 years.

Methodology: We carried out an observational study with a prospective follow-up on 18 children aged < 15 years with isolated, unilateral, oblique, or spiral, closed femur shaft fracture treated with closed reduction and immobilization with hip spica or internal fixation with elastic stable intramedullary nails or minimal invasive plate osteosynthesis.

Pediatric floating knee injuries: Clinical modifiers affecting sports and transfer outcomes.

Aim: This study assessed the functional outcome, and the clinical modifiers that influence them with the aim to assist the clinician plan a better management strategy in Paediatric Floating Knee (PFK) injuries.

Methods: A quasi-prospective, single-center observational study was designed to determine the functional and radiological outcomes in children ( View Article and Find Full Text PDF

gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.

gene variants lead to a severe type of osteogenesis imperfecta (OI) attributed to defects in the matrix mineralization. We present 18 patients with gene variants leading to severe progressive deforming OI, the largest series in the world to date. These patients were normal at birth and had the first fracture between 2 months to 9 years; progression of deformities was seen in 12 adolescents who became nonambulatory.

Clinical Spectrum and Microbial Etiology of Bone and Joint Infections in Children: A Retrospective Analysis from South India.

Acute infections of bone and joints are medical emergencies. Early diagnosis and treatment are essential for limb salvage and prevention of deformities. Data from developing countries are essential to develop region-specific treatment guidelines including choice of empiric antibiotics.

Special AT-rich sequence-binding protein 2 (SATB2) in the differential diagnosis of osteogenic and non-osteogenic bone and soft tissue tumors.

Background: The diagnosis of osteosarcoma (OSA) depends on clinicopathological and radiological correlation. A biopsy is considered the gold standard for OSA diagnosis. However, since OSA is a great histological mimicker, diagnostic challenges exist.

Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency.

Background: AICA (5-aminoimidazole-4-carboxamide) ribosiduria is an inborn error in purine biosynthesis caused due to biallelic pathogenic variants in the 5-aminoimidazole-4-carboxamide ribonucleotide-formyltransferase/imp cyclohydrolase (ATIC) gene located on chromosome 2q35. ATIC codes for a bifunctional enzyme, AICAR transformylase and inosine monophosphate (IMP) cyclohydrolase, which catalyse the last two steps of de novo purine synthesis. This disorder has been previously reported in only 4 cases worldwide, and herein, we report the first from India.

Comparing the chondrogenic potential of rabbit mesenchymal stem cells derived from the infrapatellar fat pad, periosteum & bone marrow.

Background & Objectives: Rabbit model is commonly used to demonstrate the proof of concept in cartilage tissue engineering. However, limited studies have attempted to find an ideal source of rabbit mesenchymal stem cells (MSCs) for cartilage repair. This study aimed to compare the in vitro chondrogenic potential of rabbit MSCs isolated from three sources namely infrapatellar fat pad (IFP), periosteum (P) and bone marrow (BM).

Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles.

Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease, in which soft connective tissue is converted into heterotopic bone through an endochondral ossification process. Patients succumb early as they gradually become trapped in a second skeleton of heterotopic bone. Although the underlying genetic defect is long known, the inherent complexity of the disease has hindered the discovery of effective preventions and treatments.

A Preliminary Survey of Women Orthopaedic Surgeons on Awareness of Radiation Safety Practice and Breast Cancer Risk in India.

Objectives: To assess women surgeons' awareness of radiation protection protocols, cumulative dose, safety measures, radiation exposure, and breast cancer risk in India.

Methods: The data were acquired through a survey monkey questionnaire circulated to women orthopaedic surgeons across the country through the WOICE group, e-mails and phone. The questionnaire assessed the respondents' awareness of radiation protection measures and level of exposure.

Elastic stable intramedullary nailing versus submuscular plating in pediatric diaphyseal femur fractures: a randomized controlled trial among children in South India.

Elastic stable intramedullary nailing (ESIN) is the current preferred method for treating diaphyseal femur fractures in children. Introduction of the submuscular locked plate (SMP) fixation construct has opened the debate on treatment options for pediatric diaphyseal femur fractures in the older children and adolescents. A randomized controlled trial (RCT) protocol was designed to compare ESIN and SMP for diaphyseal femur fractures in children.

Role of WNT Agonists, BMP and VEGF Antagonists in Rescuing Osteoarthritic Knee Cartilage in a Rat Model.

Introduction: The superficial zone of articular cartilage (AC) is vital for its function and biomechanics. The damaged AC gets vascularized and undergoes hypertrophy and ossification. Studies have highlighted these two as the major causative factors in osteoarthritis (OA).

Controlled Differentiation of Mesenchymal Stem Cells into Hyaline Cartilage in miR-140-Activated Collagen Hydrogel.

Objective: Hypertrophic cartilage formation is a major setback in mesenchymal stem cells (MSCs)-mediated cartilage repair, and overcoming it requires optimization of differentiation. Here, we tested the miR-140 activated collagen hydrogel for the chondrogenic differentiation of MSCs and to produce hyaline cartilage.

Methods: Bone marrow MSCs isolated from 3 patients were pretreated with miR-140 and then chondrogenic differentiated.

Radial shockwave treatment promotes chondrogenesis in human growth plate and longitudinal bone growth in rabbits.

Objective: The process of longitudinal bone growth occurs at the growth plate where the chondrocytes undergo apparent structural and molecular changes to promote growth. Recent reports suggest that radial shockwave treatment (rSWT) stimulates bone length in cultured fetal rat metatarsals. Therefore, we investigated if rSWT has similar growth promoting effects on cultured human growth plate fragments and addressed the same in a preclinical in vivo rabbit model by subjecting their growth plates to rSWT.

Long-Term Evaluation of Allogenic Chondrocyte-Loaded PVA-PCL IPN Scaffolds for Articular Cartilage Repair in Rabbits.

Objective: This study tested the long-term efficacy of two synthetic scaffolds for osteochondral defects and compare the outcomes with that of an established technique that uses monolayer cultured chondrocytes in a rabbit model.

Methods: Articular cartilage defect was created in both knees of 18 rabbits and divided into three groups of six in each. The defects in first group receiving cells loaded on Scaffold A (polyvinyl alcohol-polycaprolactone semi-interpenetrating polymer network (Monophasic, PVA-PCL semi-IPN), the second on Scaffold B (biphasic, PVA-PCL incorporated with bioglass as the lower layer), and the third group received chondrocytes alone.

Trophic effects of multiple administration of mesenchymal stem cells in children with osteogenesis imperfecta.

The safety of mesenchymal stem cell therapy for osteogenesis imperfecta has been demonstrated previously. However, it is unknown how the trophic effects are mediated by stem cells. In the present commentary, we bring to the attention of readers the recent report by Infante et al in the journal of clinical and translational medicine.

Online action planning forums to develop a roadmap to mitigate the impact of COVID-19 on the delivery of global children's surgical care.

Purpose: We aimed to understand the challenges facing children's surgical care providers globally and realistic interventions to mitigate the catastrophic impact of COVID-19 on children's surgery.

Methods: Two online Action Planning Forums (APFs) were organized by the Global Initiative for Children's Surgery (GICS) with a geographically diverse panel representing four children's surgical, anesthesia, and nursing subspecialties. Qualitative analysis was performed to identify codes, themes, and subthemes.

Modified Woodward's procedure confers functional improvement in Sprengel's deformity.

Modified Woodward's procedure improves shoulder movement and cosmesis. There is a paucity of literature reporting objective assessment of functional outcomes. We report cosmetic and functional outcomes in Sprengel's deformity treated with modified Woodward's procedure.