Pediatric seatbelt injuries: unusual Chance's fracture associated with intra-abdominal lesions in a child

The authors report the case of a 7-year-old child involved in a motor vehicle accident. She sustained an unusual flexion-distraction vertebral injury. This spinal injury was related to seatbelt use and was associated with intra-abdominal lesions. The spinal lesion consisted of a posterior ligamentous disruption with widening of the posterior intervertebral space at two adjacent lumbar levels. The purpose of this case report is to describe an atypical and perhaps often unrecognized spinal lesion and to explain our approach to diagnosis and treatmen

Benign fibrous histiocytoma of bone in a paediatric population: a report of 6 cases

Case records and radiological investigations of six children with benign fibrous histiocytoma were studied retrospectively. BFH occurred in the femur (n=2), tibia (n=2) and fibula (n=2). Clinically, patients reported pain from the lesion lasting several months (mean 6months). The pain was not associated with pathological fracture in any patient. On X-rays, the lesions appeared as lytic and sharply demarcated with a sclerotic rim and fine trabeculations. The reported cases were located in the metaphysis and the diaphysis of the long bones. The tumour was restricted to bone, without periosteal or soft tissue reaction. Treatment consisted of careful intralesional curettage of the lesion; the defect was thereafter filled with bone bank graft or injectable phosphocalcic cement. The length of follow-up ranged from 24months to 4.75years (mean 35.2months). One case presented with recurrence of the disease and required successful repeat intralesional curettage. Benign fibrous histiocytoma is probably underestimated among patients less than 20years of age. This diagnosis should be considered in any child or teenager who presents with a non-ossifying fibroma accompanied by unexplainable pain or a rapid growing. Surgery restricted to the osteolytic lesion seems sufficient to achieve bone healin

Clinical and financial impacts of flexible intramedullary nailing in pediatric diaphyseal forearm fractures: A case-control study.

Flexible intramedullary nailing is regularly applied for pediatric displaced unstable forearm fractures. When compared to closed reduction and casting (orthopedic treatment), flexible intramedullary nailing decreases malalignment, shortens immobilization time, and should decrease follow-up controls. Comparing flexible intramedullary nailing and orthopedic treatment in the clinical, radiological, and financial managements of these fractures was performed. Retrospective 5 years study of pediatric cases in two pediatric orthopedic university departments. Treatment method, post-operative course, and radiological follow-up were reviewed. Number of radiographs, follow-up controls, type and duration of immobilization, final bone angulation, and reported complications were compared. Extensive financial analysis was completed. Of 73 girls and 168 boys included in the study, 150 were treated by flexible intramedullary nailing and 91 by orthopedic treatment. No difference was noted with regard to total number of radiographs (7.3 vs 7.2, respectively). Total number of follow-ups was 6.4 and 5.5, respectively. Malalignment occurred in two flexible intramedullary nailing and sixteen orthopedic treatments. The least expensive cost was ambulatory orthopedic treatment. Flexible intramedullary nailing treated children had similar numbers of radiographs or follow-up consultation, but less malunion when compared to orthopedic treatment. Orthopedic management was systematically cheaper than flexible intramedullary nailing. Unless post-operative management guidelines decreasing the number of radiographs and follow-ups are implemented, flexible intramedullary nailing will remain a costly procedure when compared to conventional orthopedic treatment. level III case-control retrospective study

Paediatric musculoskeletal infections with Panton-Valentine leucocidin.

Paediatric musculoskeletal infections by Panton-Valentine leucocidin (PVL)-producing Staphylococcus aureus constitute a rare, but highly critical event. They are characterised by a rapid course of marked inflammation, worsening under conservative therapy and a high rate of recurrence. This study aimed to illustrate the importance of paediatric PVL-producing S. aureus musculoskeletal infections in western Switzerland. Case records, clinical parameters and biological assessments of children with musculoskeletal infections due to PVL-producing S. aureus who attended the University Hospitals of Lausanne and Geneva from 2008 to 2016 were studied retrospectively. Of the nine cases (seven male), four presented with haematogenous acute osteomyelitis, two with septic arthritis, and three with skin and soft tissue infections. Laboratory analysis revealed mean values for white blood cell count of 12,700/mm3, C-reactive protein (CRP) 171mg/l, erythrocyte sedimentation rate (ESR) 62 mm/h and platelet count 241,000/mm3. Notably, fever and laboratory values were higher for osteoarticular infections. PVL was produced by methicillin-sensitive S. aureus (MSSA) in eight cases and by community-acquired methicillin-resistant S. aureus (CA-MRSA) in one case. PVL was identified in blood cultures (six cases), operative samples (seven cases) and an oral swab (one case). Treatment relied on surgical procedures, endorsed by two-agent antimicrobial therapy for up to 9 weeks. Complications included recurrent infections (five cases), pathological fracture (one case) and growth arrest (two cases), as well as an important psychological impact (one case). The results of this study highlight the low prevalence of PVL-producing S. aureus musculoskeletal infections in the paediatric population in our region. Nevertheless, given the importance of complications, the recurrence rate and the duration of treatment, clinicians caring for children need to be especially well versed with the peculiarity of this entity. Retrospective case series. IV

Articular nodular fasciitis in the glenohumeral joint

We describe a case of multiple intra-articular masses in the glenohumeral joint of a 15-year-old patient. The patient was treated with arthroscopic excision of the masses and synovectomy. Histological and immunohistochemical studies were consistent with those of a nodular fasciitis. Follow-up examination did not reveal recurrence at 6months. In this article we report the first case of articular nodular fasciitis in the glenohumeral joint with unusual imaging finding

Obturator externus abscess in a 9-year-old child: A case report and literature review.

Obturator pyomyositis is a rare condition in children. Diagnosis is often delayed because of its rarity, and the vagaries of its presentation cause it to be easily be missed. Physicians should therefore familiarize themselves with this condition and consider it as a possible differential diagnosis in patients presenting with an acutely painful hip. Inflammatory syndrome is also frequent among sufferers and the MRI is a very sensitive diagnostic tool for obturator pyomyositis. Additionally, joint fluid aspirations and blood cultures are also useful in identifying the pathogen. The appropriate antibiotic therapy provides a rapid regression of symptoms during the early stage of pyomyositis. In cases of MRI-confirmed abscess, surgical treatment is indicated. Our report focuses on a case of obturator pyomyositis in a 9-year-old boy. The child was febrile for 5 days and could only manage to walk a few steps. His hip range of motion was restricted in all directions. In addition, the patient had presented pain and swelling of his right elbow for a day, with a restriction of motion in the joint. There was a clear inflammatory syndrome. A diagnosis of hip and elbow septic arthritis was suspected, and the child underwent joint aspiration of the both cited joints. The aspiration of the elbow returned pus. Conversely, no effusion was found in the hip aspiration. The administration of empiric intravenous antibiotherapy was started. An MRI revealed an osteomyelitis of the ischio-pubic area associated with a subperiosteal abscess. Subsequently, 3 days after elbow arthrotomy, a surgical treatment was performed on the patient's right hip in order to evacuate the subperiosteal abscess and muscular collection because of the persistence of the patient's symptoms and inflammatory syndrome despite susceptible intravenous antibiotics. Postsurgery the patient showed steady improvement. Such cases demonstrate how diagnosis can be difficult because pelvic pyomyositis is often mistaken for more common pathologies such as septic arthritis, osteomyelitis, or appendicitis. This may delay the diagnosis or refer misdiagnosis. We discuss this rare infection in light of the literature with particular reference to its incidence, clinical features, bacteriological etiology, biological, and radiological presentation, and above all, its treatment

Foreign bodies in the upper airways: the experience of two Italian hospitals

OBJECTIVE: To study the pattern of foreign bodies in the upper airways as emerging from the hospital records in the Bologna and Siena hospitals in Italy 1997-2002. METHODS: A retrospective review of hospital records was performed using a standardized protocol. All injuries with ICD9 (International Classification of Diseases, 9'h revision) codes ranging from 931 to 934 which occurred in children age 0-14 were considered for the database. RESULTS: One hundred ninety seven patients were included in the database with a diagnosis of Foreign Bodies (FB) over the study period, 78 with ICD931, 105 with ICD932, 12 with ICD933 and 2 with ICD934 discharge diagnosis. Of the 197 patients, 51.90% of the patients were males and the 48.10% were female. Median age was 4 (2, 6). At the moment of the injury, the child was eating (11%), playing (83%) or studying (4%) or cleaning ears (2%). The child was supervised by an adult in doing his/her activities at the moment of injury in the 84.2% of the cases. The child reached the hospital using always private transport (100%), never by using an emergency transport (0%). Most commonly, FB were extracted in ambulatory (95.4%), more rarely using an endoscopic procedure (4.1%), and never using surgery. Hospitalization was required in the 0.5% of cases (1). CONCLUSIONS: Our study showed the substantial epidemiological similarity of the Italian data with the experience of other center in the world. The burden of chocking was very limited in our country, as proven by the limited access to emergency and more invasive procedures. Nevertheless, some consideration can be made from the preventive point of view. Quite surprisingly, the majority of injuries occurred under the supervision of an adult in playing or recreational activities

Foreign bodies in the upper airways: the experience of two Italian hospitals

OBJECTIVE: To study the pattern of foreign bodies in the upper airways as emerging from the hospital records in the Bologna and Siena hospitals in Italy 1997-2002. METHODS: A retrospective review of hospital records was performed using a standardized protocol. All injuries with ICD9 (International Classification of Diseases, 9'h revision) codes ranging from 931 to 934 which occurred in children age 0-14 were considered for the database. RESULTS: One hundred ninety seven patients were included in the database with a diagnosis of Foreign Bodies (FB) over the study period, 78 with ICD931, 105 with ICD932, 12 with ICD933 and 2 with ICD934 discharge diagnosis. Of the 197 patients, 51.90% of the patients were males and the 48.10% were female. Median age was 4 (2, 6). At the moment of the injury, the child was eating (11%), playing (83%) or studying (4%) or cleaning ears (2%). The child was supervised by an adult in doing his/her activities at the moment of injury in the 84.2% of the cases. The child reached the hospital using always private transport (100%), never by using an emergency transport (0%). Most commonly, FB were extracted in ambulatory (95.4%), more rarely using an endoscopic procedure (4.1%), and never using surgery. Hospitalization was required in the 0.5% of cases (1). CONCLUSIONS: Our study showed the substantial epidemiological similarity of the Italian data with the experience of other center in the world. The burden of chocking was very limited in our country, as proven by the limited access to emergency and more invasive procedures. Nevertheless, some consideration can be made from the preventive point of view. Quite surprisingly, the majority of injuries occurred under the supervision of an adult in playing or recreational activities

A CTNNA3 compound heterozygous deletion implicates a role for \u3b1T-catenin in susceptibility to autism spectrum disorder.

Autism spectrum disorder (ASD) is a highly heritable, neurodevelopmental condition showing extreme genetic heterogeneity. While it is well established that rare genetic variation, both de novo and inherited, plays an important role in ASD risk, recent studies also support a rare recessive contribution. METHODS: We identified a compound heterozygous deletion intersecting the CTNNA3 gene, encoding \u3b1T-catenin, in a proband with ASD and moderate intellectual disability. The deletion breakpoints were mapped at base-pair resolution, and segregation analysis was performed. We compared the frequency of CTNNA3 exonic deletions in 2,147 ASD cases from the Autism Genome Project (AGP) study versus the frequency in 6,639 controls. Western blot analysis was performed to get a quantitative characterisation of Ctnna3 expression during early brain development in mouse. RESULTS: The CTNNA3 compound heterozygous deletion includes a coding exon, leading to a putative frameshift and premature stop codon. Segregation analysis in the family showed that the unaffected sister is heterozygote for the deletion, having only inherited the paternal deletion. While the frequency of CTNNA3 exonic deletions is not significantly different between ASD cases and controls, no homozygous or compound heterozygous exonic deletions were found in a sample of over 6,000 controls. Expression analysis of Ctnna3 in the mouse cortex and hippocampus (P0-P90) provided support for its role in the early stage of brain development. CONCLUSION: The finding of a rare compound heterozygous CTNNA3 exonic deletion segregating with ASD, the absence of CTNNA3 homozygous exonic deletions in controls and the high expression of Ctnna3 in both brain areas analysed implicate CTNNA3 in ASD susceptibility

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to cosegregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort of 258 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We identifed a novel 1bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma. This variant is located in the coding region of all nine YAP1 spliceforms, and results in a frameshift and subsequent premature termination codon in each. The variant is predicted to result in the loss of part of the transactivation domain of YAP1, and sequencing of cDNA from the patient shows it does not result in nonsense mediated decay. To investigate the role of YAP1 in human eye development, we performed in situ hybridisation utilising human embryonic tissue, and observed expression in the developing eye, neural tube, brain and kidney. These fndings help confrm the role of YAP1 and the Hippo developmental pathway in human eye development and its associated anomalies and demonstrate its expression during development in afected organ systems