Intrafamilial Variability of the R694C Variant in BICD2 Presenting with Lethal Severe Arthrogryposis

Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition comprising congenital multiple joint contractures, and it is secondary to decreased fetal mobility following environmental/genetic abnormalities. BICD2 pathogenic variants have been associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED2). We report the case of a newborn with decreased fetal movements and ventriculomegaly diagnosed in utero, born with severe AMC, multiple bone fractures, congenital hip dislocation, and respiratory insufficiency that led to neonatal death. His mother had AMC diagnosis without established etiology. Her phenotype characterization was key to guide the genetic investigation. A BICD 2 heterozygous variant (NM_001003800.1; c.2080C > T; p. [Arg694Cys]) was detected both in the mother and the newborn. This variant had previously been reported in 3 cases, all having de novo severe SMALED-type 2B (MIM#618291) phenotype. This is the first report of this variant (p. [Arg694Cys]) presenting with an inherited, severe, and lethal phenotype associated to intrafamilial variability, suggesting a more complex phenotype-genotype correlation than previously stated.

Conservative treatment of scaphoid fracture: Protocol for a systematic review

The scaphoid is the most commonly fractured carpal bone. Fractures affecting this bone affect young and active patients between 15 and 40 years of age. Stable scaphoid fractures are treated conservatively by plaster cast immobilization or other type of orthosis for an average period of four to 12 weeks. Failure to treat scaphoid fractures may result in avascular necrosis, nonunion, and early secondary osteoarthritis, which may result in significant economic and social impact due to the affected population, formed by young people of productive age. The management of this type of fracture varies significantly between different Institutions and orthopedic surgeons. This article describes a protocol for a systematic review that aims to evaluate the effects (benefits and harms) of conservative interventions in the treatment of scaphoid fractures in adults.

A review on experimental and numerical investigations of cortical bone fracture

This paper comprehensively reviews the various experimental and numerical techniques, which were considered to determine the fracture characteristics of the cortical bone. This study also provides some recommendations along with the critical review, which would be beneficial for future research of fracture analysis of cortical bone. Cortical bone fractures due to sports activities, climbing, running, and engagement in transport or industrial accidents. Individuals having different diseases are also at high risk of cortical bone fracture. It has been observed that osteon orientation influences cortical bone fracture toughness and fracture mechanisms. Apart from this, recent studies indicate that fracture parameters of cortical bone also depend on many factors such as age, sex, temperature, osteoporosis, orientation, location, loading condition, strain rate, and storage facility, etc. The cortical bone regains its fracture toughness due to various toughening mechanisms. Owing to these factors, several experimental, clinical, and numerical investigations have been carried out to determine the fracture parameters of the cortical bone. Cortical bone is the dense outer surface of the bone and contributes to 80%–82% of the skeleton mass. Cortical bone experiences load far exceeding body weight due to muscle contraction and the dynamics of motion. It is very important to know the fracture pattern, direction of fracture, location of the fracture, and toughening mechanism of cortical bone. A basic understanding of the different factors that affect the fracture parameters and fracture mechanisms of the cortical bone is necessary to prevent the failure and fracture of cortical bone. This review has summarized the advancement considered in the various experimental techniques and numerical methods to get complete information about the fracture mechanisms of cortical bone.

Irisin and Secondary Osteoporosis in Humans

Irisin is a peptide secreted by skeletal muscle following exercise that plays an important role in bone metabolism. Numerous experiments in vitro and in mouse models have shown that the administration of recombinant irisin promotes osteogenesis, protects osteocytes from dexamethasone-induced apoptosis, prevents disuse-induced loss of bone and muscle mass, and accelerates fracture healing. Although some aspects still need to be elucidated, such as the dose- and frequency-dependent effects of irisin in cell cultures and mouse models, ample clinical evidence is emerging to support its physiological relevance on bone in humans. A reduction in serum irisin levels, associated with an increased risk of osteoporosis and bone fractures, was observed in postmenopausal women and in both men and women during aging, Recently, cohort studies of subjects with secondary osteoporosis showed that these patients have lower circulating levels of irisin, suggesting that this myokine could be a novel marker to monitor bone quality in this disease. Although there are still few studies, this review discusses the emerging data that are highlighting the involvement of irisin in some diseases that cause secondary osteoporosis.

Indigenous Knowledge On Medicinal Plants Practiced At Myagdi District, Nepal

Indigenous knowledge on medicinal plants and practices is outdistancing and vulnerable to loss if not properly documented. A survey on medicinal plants and their practices was carried in the Myagdi district. Around 40 tribal people from four different villages were interviewed using a semi-structured questionnaire. Documentation of the indigenous knowledge was done in written form and the pictures of available medicinal plants were taken. The study showed that 93.51% of the respondent has used medicinal plants and 87.20% found them effective in curing several diseases and injuries. They are commonly used to cure diseases like bone fractures, abdominal pain, fever, common cold, dysentery, eye opacity, scabies, worm infection, reproductive problems, mental disorder, and cardiovascular problems. As reported, with access to modern pharmaceuticals, the use of medicinal plants has been less practiced these days. The knowledge on medicinal plants and practices are restricted to older-aged groups of the community (76.32%) reflecting that valuable indigenous knowledge is on the wane. This study portrays the commonly used medicinal plants along with their preparation techniques practiced in the study area.

Management of Frontal Bone Fracture in a Tertiary Neurosurgical Care Center—A Retrospective Study

Aim We present our experience in the management of frontal bone fractures using the previously described radiologic classification of frontal bone fractures. Methodology A retrospective study was conducted, which reviewed the medical records and computed tomographic (CT) scan images of patients with frontal bone fracture from January 2016 to February 2019. Patients with complete medical records and a follow-up of minimum 1 year were included in the study. Demographic details, mechanism of injury, associated intracranial injuries, maxillofacial fractures, management, and complications were analyzed. CT scan images were used to classify the frontal bone fractures using the novel classification given by Garg et al (2014). The indications for surgical treatment were inner table frontal sinus fracture with cerebrospinal fluid (CSF) leak, intracranial hematoma with significant mass effect requiring surgical evacuation, and outer table comminuted fracture that is either causing nasofrontal duct obstruction or for cosmetic purpose. Results A total of 55 patients were included in the study. Road traffic accidents as the commonest cause of frontal bone fractures. The most common fracture pattern was type 1 followed by type 5 and depth B followed by depth A. Four patients presented with CSF rhinorrhea. CSF rhinorrhea was more frequent with fracture extension to the skull base (depth B, C, D), which was statistically significant (p < 0.001). Conclusion Frontal bone fracture management has to be tailor-made for each patient based on the extent of the fracture, presence of CSF leak, and associated intracranial and maxillofacial injuries.

Comparison of Previously Injured Body Regions in Elite Freestyle and Greco-Roman Wrestlers

The aim of this study was to compare the injured body regions that elite Freestyle and Greco-Roman wrestlers suffered from and to determine the importance of injuries. 41 Freestyle and 51 Greco-Roman wrestlers, who were practicing in Turkish National Wrestling Team camps, participated in this study. ‘Chi Square’ and student t tests were used in statistical analyses. When examined injury status and body regions distribution between Freestyle and Greco-Roman wrestlers, significant difference was found in head and trunk injuries according to wrestling styles (p<0.05). No difference was found in upper/lower extremities and lesion/scrape and friction burns status of the wrestlers according to wrestling style (p>0.05). There was significant difference in trunk and upper extremity injuries with respect to weight category (p<0.05 and p<0.001). Significant difference was also found in nose injuries according to wrestling styles (p<0.05). When examined wrestling style and upper extremity injuries according to the number of injuries, there was found significant difference between two styles in muscle injuries, finger and wrist injuries (p<0.05). The difference between toe injuries in respect to the wrestling style was statistically significant (p<0.05). Results: Greco-Roman wrestlers experienced more injuries in trunk, head and nose compared to Freestyle wrestlers. Trunk, lower and upper extremity injuries varied depending on weight categories. Neck, back, lumbar and chest injuries were more common in Greco-Roman wrestlers. Freestyle wrestlers were more vulnerable to muscle injuries while Greco-Roman wrestlers were more vulnerable to finger and wrist injuries. It is recommended to improve some abilities excellently such as aerobic power, strength, balance and neuro-motor coordination in wrestling. Techniques should be taught well to the wrestlers, most risky extremities for injury have to be applied extra training and these extremities should be protected from injuries by several tapes, bandages or gears during exercise. Freestyle wrestlers ought to be more careful in diving move. Using ear protector in addition to preventive measures can be recommended during training in order to prevent temporal bone fractures and swellings.

The Orthopedic Effects of Electronic Cigarettes: A Systematic Review and Pediatric Case Series

Electronic cigarette (EC) use is highly prevalent, especially in the adolescent population, where 29% of Canadian adolescents have used an EC in the past thirty days per national surveys. Our pediatric orthopedic referral centre observed a cluster of delayed unions of bone fractures in adolescents using ECs and present the case series here. We then asked whether electronic cigarettes impair bone healing or influence orthopedic outcomes. A PRISMA-compliant systematic review was carried out, which revealed no human clinical studies and a general paucity of evidence around ECs and musculoskeletal health. The existing experimental evidence relevant to orthopedics is summarized. The effect of ECs on the musculoskeletal system is poorly understood and is a target for further research.

Phytochemical and pharmacological investigation of the ethanol extract of Byttneria pilosa Roxb.

Background Traditionally, the herb Byttneria pilosa Roxb. is used for bone fractures, boils, scabies, rheumatalgia, snake bites, syphilis, elephantiasis, poisoning, and eye infection. Scientific reports suggest that it has significant anti-inflammatory, analgesic, anti-diarrheal, anxiolytic, locomotion, sedative and anti-obesity effects. This study aims at the investigation of the phytochemical and pharmacological properties of the ethanol extract of this herb. Methods Fresh whole plant was extracted with absolute ethanol. A preliminary phytochemical investigation was followed by the evaluation of thrombolytic, anti-inflammatory, and anti-nociceptive activities by applying human clotted blood lysis, egg albumin, and acetic acid-induced writhing models, respectively. Results Phytochemical investigation suggests that B. pilosa possesses alkaloids, flavonoids, glycosides, terpenoids, tannins, saponins, and reducing sugars. The extract exhibited clot lysis and anti-inflammatory effects in a concentration-dependent manner. B. pilosa extract at 250 and 500 mg/kg also showed significant (p < 0.05) dose-dependent anti-nociceptive activity in Swiss albino mice. Conclusion The B. pilosa ethanol extract contains many important secondary metabolites and has thrombolytic, anti-inflammatory, and anti-nociceptive activities. More research is necessary on this hopeful medicinal herb.