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"Bone Juvenile literature."
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Bone by bone : comparing animal skeletons
\"This picture book will keep you guessing as you read about how human skeletons are like--and unlike--those of other animals\"--Dust jacket flap.
Book
A rare association of osteogenesis imperfecta and juvenile idiopathic arthritis: case reports and literature review
Background. Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. The combination of OI and inflammatory arthritis is rare. Our literature review identified 5 cases of OI-related inflammatory arthritis, but only 2 of these cases have been reported in children. Case Report. We present 3 cases diagnosed with OI and juvenile idiopathic arthritis (JIA). Two were diagnosed with enthesitis-associated arthritis, and one was diagnosed with oligoarticular JIA with laboratory findings and a magnetic resonance imaging examination. Only one of the patients had a previously diagnosed OI. For the others, whole gene sequence analysis was performed, and a mutation in the collagen type I alpha 1 (COL1A1) gene was detected. Identifying and treating inflammatory arthritis in our patients with OI improved their joint pain. Conclusion. Musculoskeletal pain is a common issue in individuals with OI and JIA. Considering children with OI may also develop arthritis, early diagnosis, and accurate treatment may be crucial. Recognizing the rare association between JIA and OI is important, as investigating this relationship could help alleviate the disease burden. Thorough evaluation and prompt diagnosis of JIA in patients with OI can significantly reduce the impact of the disease.
Journal Article
Management of juvenile and aneurysmal bone cysts: a systematic literature review with meta-analysis
PurposeNumerous approaches to the management of juvenile and aneurysmal bone cysts (ABC) are described in the specialist literature together with discussion of the associated healing and recurrence rates. Since there is currently no evidence-based treatment standard for these conditions, the aim of this systematic literature review with meta-analysis was to examine the different management approaches, evaluate the corresponding clinical outcomes and, as appropriate, to formulate a valid treatment recommendation.MethodsA systematic search on OVID Medline® based on a pre-existing search strategy returned 1333 publications. Having defined inclusion and exclusion criteria and analysis of the relevant full texts, 167 publications were included in the descriptive analysis and 163 in the meta-analysis. For this purpose, different subgroups were created, based on the type of cyst and the therapeutic procedure. Those subgroups were then analysed in relation to their healing rates, the number of recurrences and complication rates.ResultsFor aneurysmal bone cysts, both surgical removal and Doxycycline injection lead to excellent outcomes (98% healing) and low recurrence rates (6% and 11% resp.). Curettage (91% healing), including its combination with autologous cancellous bone graft (96% healing), showed very good healing rates but higher recurrence rates (22% and 15%, resp.), which were however improved by preoperative selective arterial embolization. A critical view must be taken of radiotherapy (90% healing) and the injection of alcohol (92% healing) because of their high complication rates (0.43/cyst and 0.42/cyst, resp.). In the management of juvenile bone cysts, surgical interventions like curettage and cancellous bone graft (87% healing) are far superior to non-surgical approaches (51% healing), furthermore, the application of autologous cancellous bone graft reduced the recurrence rate (3% recurrence) compared to curettage alone (20% recurrence). In subgroup analysis, treatment by ESIN was found to produce excellent outcomes (100% healing), though the patient collectives were small.ConclusionSurgical procedures to treat aneurysmal bone cysts appear to be the method of choice whereby Doxycycline injection may be an alternative. A surgical approach should be preferred in the treatment of juvenile bone cysts.
Journal Article
Intra- and Juxta-Articular Osteoid Osteoma Mimicking Arthritis: Case Series and Literature Review
Background: Intra- and juxta-articular osteoid osteomas are rare, representing less than 10% of all osteomas. Compared to the classic diaphyseal or metaphyseal site of long bones, they often have an atypical onset, a longest diagnostic delay, and frequent initial misdiagnoses, with pictures that can mimic inflammatory monoarthritis. We aimed to describe a case series, and to provide a literature review of this uncommon and misleading tumor location. Methods: We performed a retrospective analysis of patients referred to three pediatric rheumatology centers, with a final diagnosis of articular osteoid osteoma. A review of the literature was additionally conducted. Results: We included 10 patients with a mean age of 14 years. All patients with unusual sites (olecranon fossa, lumbar vertebra, distal phalanx of the toe, fibula) had a misdiagnosis, and cases with initial suspicion of monoarthritis had the longest diagnostic delay, up to 24 months. The literature review confirms the significant risk of misdiagnosis, and an average time from symptom onset to diagnosis ranging from 0.4 to 1.8 years. Conclusions: Articular osteoid osteoma may mimic arthritis, especially in adolescence. Knowledge of the atypical forms of presentation, and of the clinical and radiological pitfalls, reduces the risk of diagnostic error.
Journal Article
Phenotypic variability in a child with Felty’s syndrome: a case report
Background
Felty’s syndrome (FS) is characterized by the triad of rheumatoid arthritis (RA), splenomegaly and neutropenia. The arthritis is typically severe and virtually always associated with high-titer rheumatoid factor. The presence of persistent neutropenia is generally required to make the diagnosis. Most patients diagnosed with FS are aged 50–70 years and have had RA for more than 10 years. It is rarely seen in patients with juvenile idiopathic arthritis (JIA), with only five cases having been reported throughout the world.
Case presentation
The present study describes the case of a 14-year-old female with a seven-year history of polyarticular JIA, presenting with splenomegaly, hepatomegaly, cholestasis and thrombocytopenia. However, she occasionally developed neutropenia. Titers of rheumatoid factor and anti-CCP were persistently high, and the antinuclear antibody titer was 1:320, while the antibody results for anti-dsDNA and anti-Sm were negative. Serum levels of IgA, IgG, IgM and IgE were all persistently elevated, and the ratio of CD19
+
lymphocytes in the subgroups of lymphocytes was persistently high. The level of complements was normal. No STAT3 and STAT5B mutations were found by next-generation sequencing. The patient did not respond to methotrexate, prednisolone, hydroxychloroquine (HCQ), sulfasalazine and etanercept but was responsive to rituximab.
Conclusions
JIA, thrombocytopenia and splenomegaly are the most common and important features in six children with FS, while persistent neutropenia is not seen in all these patients. No complement deficiency has been found in children with FS so far. Manifestations of FS without neutropenia may be extremely rare. There are differences between adults and children in the clinical and laboratory features of FS.
Journal Article
Neonatal systemic juvenile Xanthogranuloma with Hydrops diagnosed by Purpura skin biopsy: a case report and literature review
Background
Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of congenital neonatal systemic juvenile xanthogranuloma with atypical skin appearance that made the diagnosis difficult.
Case presentation
A preterm Japanese female neonate with prenatally diagnosed fetal hydrops in-utero was born with purpuric lesions involving the trunk and face. Since birth, she had hypoxemic respiratory failure, splenomegaly, anemia, thrombocytopenia, coagulopathy, and was transfusion dependent for red blood cells, fresh frozen plasma, and platelets. Multiple cystic lesions in her liver, part of them with vascular, were detected by ultrasound. A liver biopsy was inconclusive. A skin lesion on her face similar to purpura gradually changed to a firm and solid enlarged non-yellow nodule. Technically, the typical finding on skin biopsy would have been histiocytic infiltration (without Touton Giant cells) and immunohistochemistry results which then would be consistent with a diagnosis of systemic juvenile xanthogranuloma, and chemotherapy improved her general condition.
Conclusions
This case report shows that skin biopsies are necessary to detect neonatal systemic juvenile xanthogranuloma when there are organ symptoms and skin eruption, even if the skin lesion does not have a typical appearance of yellow papules or nodules.
Journal Article
Skeletal fractures resulting from fatal falls: A review of the literature
•Falls are unique events which produce unique and complex skeletal blunt force trauma.•Fracture patterns and morphologies are poorly understood in forensic anthropology.•Forensic anthropology, forensic pathology and clinical medicine literature reviewed.•Currently, skeletal trauma detail is typically generalised to anatomical regions.•Greater understanding of skeletal BFT is necessary for medico-legal investigations.
To investigate what is currently known about skeletal blunt force trauma (BFT) resulting from falls, and how valuable that research is in contributing to forensic anthropology investigations and interpretations of circumstances of death, a comprehensive review of forensic anthropology, forensic pathology and clinical medicine literature was performed. Forensic anthropology literature identified that establishing the type of fall from the analysis of BFT is difficult given the uniqueness of each fall event, the complexities involved with identify BFT and, in particular, the limited available research documenting fracture patterning and morphologies. Comparatively, skeletal BFT resulting from fatal falls is well documented in the forensic pathology and clinical medicine literature. These disciplines cover a wide range of fall types (free falls, falls in juveniles, specific fractures produced from falls, falls down staircases, falls resulting in impalements, and ‘other’ fall types), provide details on how the nature of the fall influences the skeletal fracturing, and documents the anatomical regions susceptible to fracturing. Whilst these contributions may assist forensic anthropologists, they provide limited details of fracture patterns and morphologies and thus further research investigating the details of skeletal BFT resulting from fatal falls is required.
Journal Article
Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review
Background
Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. Due to its rarity and complex clinical manifestation, misdiagnosis often occurs in clinical practice.
Case presentation
A 42-year-old man with multiple pedunculated colorectal polyps and concomitant rectal adenocarcinoma was admitted to our hospital. His mother had died of colon cancer. He was diagnosed with familial adenomatous polyposis (FAP) and underwent total proctocolectomy and ileal pouch anal anastomosis. Two polyps were selected for pathological examination. One polyp had cystically dilated glands with slight dysplasia. The other polyp displayed severe dysplasia and was diagnosed as adenoma. Three years later, his 21-year-old son underwent a colonoscopy that revealed more than 50 pedunculated colorectal juvenile polyps. Both patients harbored a germline pathogenic mutation in
BMPR1A
. Endoscopic resection of all polyps was attempted but failed. Finally, the son received endoscopic resection of polyps in the rectum and sigmoid colon, and laparoscopic subtotal colectomy. Ten polyps were selected for pathological examination. All were revealed to be typical juvenile polyps, with cystically dilated glands filled with mucus. Thus, the diagnosis of JPS was confirmed in the son. A review of the literatures revealed that patients with JPS can sometimes have adenomatous change. Most polyps in patients with JPS are benign hamartomatous polyps with no dysplasia. A review of 767 colorectal JPS polyps demonstrated that 8.5% of the polyps contained mild to moderate dysplasia, and only 0.3% had severe dysplasia or cancer. It is difficult to differentiate juvenile polyps with dysplasia from adenoma, which could explain why juvenile polyps have been reported to have adenomatous changes in patients with JPS. Therefore, patients with JPS, especially those with concomitant dysplasia and adenocarcinoma, might be easily diagnosed as FAP in clinical practice.
Conclusions
Juvenile polyp with dysplasia is often diagnosed as adenoma, which might lead to the misdiagnosis of JPS as FAP. The differential diagnosis of JPS versus FAP, should be based on comprehensive evaluation of clinical presentation, endoscopic appearance and genetic investigations; not on the presence or absence of adenoma.
Journal Article
Juvenile ossifying fibroma: case report and literature review. Management and differential diagnosis
Introduction:
Juvenile ossifying fibroma (JOF) is a rare neoplasm characterized by the replacement of the normal bone matrix with osteo-fibrous tissue. It has the tendency to be locally aggressive despite its benign character and to have a strong tendency for recurrence.
Observation:
In this case report, the patient is a young man, aged 16, with rapidly advancing maxillary swelling. We describe the diagnostic procedure, the surgical procedure and the differential diagnosis to be eliminated.
Discussion:
The clinical presentation of JOF, and its rapid growth, can cause fear of other pathologies such as osteosarcoma. The radiological characteristics should reassure the practitioner and a histological examination confirmed the diagnosis.
Conclusion:
JOF is a benign tumor. It should be operated on at an early stage because of its rapid growth. In its clinical and histological presentation, its trabecular form may mimic an osteosarcoma.
Journal Article
Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review
The ‘vanishing bone’ syndrome multicentric osteolysis with nodulosis and arthropathy (MONA) is a rare chronic skeleton disorder caused by matrix metalloproteinase 2 (MMP2) deficiency, mimicking erosive polyarticular juvenile idiopathic arthritis. MONA is characterised by facial dysmorphism, subcutaneous fibrocollagenous nodules, carpal and tarsal osteolysis and interphalangeal joint erosions. We present the case of a 5-year-old boy with double outlet right ventricle, ventricular septal defect, coarctation of the aorta and MONA. Previously, a total of 24 cases of MONA have been reported of which six also had congenital cardiac malformations. Despite treatment attempts of our patient with methotrexate, eternacept and prednisolone, serial X-ray studies documented continuous severe bone degeneration.
Conclusion
: The case documents the natural history of MONA and establishes a link between MMP2 deficiency and heart development, and given the recurring cardiac association, we suggest that all MONA patients be examined for possible cardiac defects.
Journal Article