Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia

We report the first case of the assessment and treatment of a spontaneous patellar fracture in a patient with Goltz syndrome-a rare dermal hypoplasia. This case illustrates the non-straightforward presentation of a spontaneous patellar fracture in seemingly osteoporotic bone stock further complicated by the inability to rule out osteomyelitis. In this confusing presentation, a high index of suspicion for patella fracture should be maintained for patients with knee pain and osteoporosis on x-ray with a dysplastic syndrome.     

27 year survival of Maney Watt unicondylar hemi knee replacement for fixation of a lateral tibial plateau fracture — a case report

We report the case of a 62-year-old gentleman who underwent a novel treatment for a lateral tibial plateau fracture 27 years ago. The patient presented to an elective knee outpatient clinic with new onset knee pain.Further investigation revealed that this was a Maney Watt prosthesis (Zimmer UK) for use in the management of unicompartmental osteoarthritis. This mode of fixation gave this patient over 20 years of good functional outcome. Following revision, the patient was followed up at 5 years, reporting a satisfactory outcome.     

Involvement of the proximal tibiofibular joint in osteoarthritis of the knee

This study was performed to evaluate the possible involvement of the proximal tibiofibular joint in primary osteoarthritis of the knee. A total of 40 patients with primary osteoarthritis of the knee who had magnetic resonance imaging scans were reexamined for proximal tibiofibular joint involvement. The patient was questioned if pain was present in the proximal tibiofibular joint while at rest, when walking and climbing stairs. Symptoms were evaluated by applying moderate compression over the proximal tibiofibular joint during active ankle and knee motions. Magnetic resonance imaging scans were reexamined by two radiologists. Three of the 40 patients had minimal or moderate pain in the proximal tibiofibular joint during stair-climbing and on clinical examination. Magnetic resonance imaging scans of these three patients revealed osteophyte or subchondral cyst formation, or both. Degenerative changes in the proximal tibiofibular joint may be evident in association with osteoarthritis of the knee and may result in lateral-sided pain at the knee.     

Clinical and economic consequences of the treatment gap in knee osteoarthritis management

Osteoarthritis affects 27 million American adults of all ages and is a leading cause of disability in middle-aged and older adults. Initial management of knee osteoarthritis symptoms utilizes conservative care although long-term efficacy is poor. Arthroplasty and high tibial osteotomy may be considered for patients with severe pain or disability. We hypothesize that a distinct treatment gap exists for the patient with symptomatic knee osteoarthritis who is unresponsive to conservative care (including simple surgical treatments) yet refuses to undergo or is not an appropriate candidate for more invasive surgical procedures. This treatment gap represents a protracted period in which the patient experiences debilitating pain, reduced quality of life, and a significant financial burden. Approximately 3.6 million Americans linger in the knee osteoarthritis treatment gap and this number will grow to about 5 million people by 2025. The typical knee osteoarthritis treatment gap extends 20 years although the younger osteoarthritis patient is faced with the treatment gap throughout the majority of their adult life. There is great need for a safe, effective, and cost effective treatment option for patients with moderate to severe osteoarthritis that enjoys high patient acceptance.     

Total knee arthroplasty and Crigler–Najjar syndrome: A case report

Crigler–Najjar (CN) syndrome is a rare genetic disease characterized by hyperbilirubinemia due to a deficiency in the hepatic enzyme UDP-glucuronosyl-transferase. We describe the first case of total knee arthroplasty in a patient with CN syndrome (type II). This procedure was complicated by kernicterus 1 week after hospital discharge. He also developed Klebsiella bacteremia and sepsis, requiring a brief ICU stay. He was discharged in good condition 2 months later. It is evident that physicians involved in the care of patients with CN syndrome in the peri-operative period need to have a high index of suspicion for the development of severe hyperbilirubinemia and kernicterus in order to appropriately manage and, possibly, prevent this complication. A literature review and intra-operative observations provide insight into the possible relationship between hyperbilirubinemia and osteoarthritis as well as the peri-operative considerations to be made for this group of patients.     

膝骨关节炎患者的临床表现及相关影响因素

背景：目前膝骨关节炎的确切病因及发病机制尚不完全清楚。 目的：调查膝骨关节炎患者的临床表现,分析其相关影响因素。 方法：收集2007-07/2009-11青岛某医院住院治疗的315例膝骨关节炎患者的一般情况、现病史、既往史、体格检查、X 射线片检查、疾病诊断和实验室检查等资料,采用SPSS 13.0软件进行χ2检验,分析膝骨关节炎发病的影响因素。 结果与结论：①左膝骨关节疼痛占21.6%,右膝疼痛占29.5%,总体上右膝关节疼痛检出率高于左膝(P  < 0.01)。单膝疼痛占51.1%,双膝疼痛占48.9%,单双膝差异无显著性意义(P > 0.05)。②女性临床膝骨关节炎检出率高于男性(P   < 0.01)。男女检出率均与年龄有关,且随年龄的增加发病率升高。③肥胖人群的膝骨关节炎检出率较非肥胖人群高(P  < 0.01),不同性别差异无显著性意义。④不同劳动强度人群膝骨关节炎检出率差异具有显著性意义(P  < 0.01),劳动强度越大检出率越高。⑤绝经女性膝骨关节炎检出率较未绝经女性检出率高(P  < 0.05),绝经情况分布年龄范围为45~60岁(60岁以上被调查者均已绝经)。提示性别、年龄、体质量指数、职业(工人、家务)、遗传因素等是中老年膝骨关节炎发病的危险因素,其中以年龄因素危险度最高。     

Total knee arthroplasty in a pseudoachondroplastic dwarfism patient with bilateral patellar dislocation

Late presentation of congenital patellar dislocation with advanced osteoarthritis is rare. This article presents a case of a 59-year-old man with underlying pseudoachondroplastic dwarfism. Advanced osteoarthritis due to bilateral neglected congenital patellar dislocation was treated with total knee arthroplasty without patella relocation surgery. Two years later, the patient had an improvement in Knee Society scores, painless function, and stability.     

Spontaneous rupture of a left gastroepiploic artery aneurysm

Gastroepiploic aneurysms are extremely rare. They occur mainly in elderly men and in 90% of cases are ruptured at presentation. Visceral aneurysms though rare should be borne in mind in cases of unexplained haemorrhagic shock. We present a case of a 79-year-old man who presented with abdominal pain, hypotension and anaemia but no obvious source of bleeding. He had undergone a prior aorto-bifemoral graft. The patient refused an operation and died the following day.     

Oxford单髁置换术治疗老年膝内侧间室骨性关节炎早中期临床疗效

目的 探讨Oxford单髁置换术治疗老年膝内侧间室骨性关节炎早中期的临床疗效.方法 回顾性分析2015年7月至2019年7月在禹城市人民医院骨科行Oxford单髁置换术治疗老年膝内侧间室骨性关节炎52例患者资料,采用术前和术后膝关节功能(KSS)评分、视觉模拟疼痛(VAS)评分、膝关节活动度(ROM)评价疗效.结果 患...     

The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.

The features of three babies with perinatal lethal osteogenesis imperfecta (OI II) resulting from substitutions of glycine by valine in the triple helical domain of the alpha 1(I) chain of type I collagen were studied. The babies were heterozygous for this substitution at residue 1006 in case 1 (OI35), 973 in case 2 (OI59), and 256 in case 3 (OI7B). OI35 had the most severe clinical form, OI IIC, with premature rupture of membranes, severe antepartum haemorrhage, stillbirth, severe short limbed dwarfism, and extreme osteoporosis. OI59 was a better formed baby but was also born prematurely as a result of premature rupture of membranes and severe antepartum haemorrhage. She had the radiographic features of OI IIA. OI7B was born at term and also had the radiographic features of OI IIA. Pathological examination of the skeletons of OI35 and OI59 showed grossly deficient intramembranous and endochondral ossification. Trabecular bone was sparse in the long bones and vertebrae. The trabeculae contained a cartilage core and an overlying layer of woven bone or osteoid. The diaphyses lacked cortical bone. The periosteal fibroblasts of OI35 contained grossly distended rough endoplasmic reticulum consistent with the 53% reduction in collagen secretion by cultured dermal fibroblasts. The aorta, skin, and lungs were hypoplastic in OI35 and OI59. The findings in this study show that glycine substitutions by valine in Gly-X-Y triplets, from glycine 256 to glycine 1006, of the triple helical domain of alpha 1(I) chains produce the OI II phenotype. The phenotype was most severe in the baby with the most carboxy-terminal substitution.     

Labelling chronic illness in primary care: a good or a bad thing?

Traditionally the management of any chronic condition starts with its diagnosis. The labelling of disease can be beneficial in terms of defining appropriate treatment such as in coronary artery disease. However, sometimes it may be detrimental such as when x-rays are used to diagnose lumbar spondylosis leading to patients inappropriately limiting their activity. Chronic knee pain in the elderly is another example where applying labels is problematical. A common diagnosis in this situation is osteoarthritis, but this label can be applied in two ways: as a radiological diagnosis, or as a clinical one. The x-ray diagnosis, however, does not equate with the clinical syndrome, and vice versa. In addition, diagnosing knee pain as osteoarthritis does not necessarily help in management, since a patient's debility is more dependent upon their clinical signs and symptoms than the presence of radiographic osteoarthritis, and by the same token its clinical counterpart. GPs are consistent in their management of knee pain, but in attempting to diagnose the pain as osteoarthritis, these plans can alter and become more dependent on the actual diagnosis than the clinical picture. As a result management may well diverge from what the current best evidence supports. Diagnosis for diagnosis sake, should therefore be discouraged, and chronic knee pain gives us one example of why this is the case. GPs would be better placed to manage this condition if it was considered more as a regional pain syndrome, perhaps defining it simply as 'chronic knee pain in older people'. This example suggests that there is a pressing need in primary care to carefully consider in chronic disease when it is appropriate to be definitive in diagnosis such that when using disease specific labels, there is definite benefit for the patient and doctor.     

Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan

Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased bone fragility and susceptibility for fractures. Only few studies have compared the management for femoral fractures in children with OI. Nevertheless, no cohort studies have described the treatment for femoral fractures in adults with OI in Taiwan. This study aimed to investigate and compare the incidence of union and non-union femoral fractures and the best treatment options to avoid non-union fractures.Methods: We enrolled 72 patients with OI who were older than 18 years at MacKay Memorial Hospital between January 2010 and December 2018. Femoral fracture incidence, non-union rate, and treatment modality were analyzed.Results: Of 72 patients with OI, 11 patients had femoral fractures and 4 patients of them had >1 femoral fracture. The incidence for all types of femoral fractures was 651 fractures per 100,000 person-years annually. In 15 total fractures, 4 fractures resulted in non-union, and patients with type 4 OI mostly had shaft fractures. The best outcomes for non-union shaft fracture is achieved by surgical treatment.Conclusion: Adults with OI tended to develop femoral fractures and non-unions. Adults with type 4 OI were particularly at high risk for non-unions in shaft fractures with conservative treatment.     

Primary total knee arthroplasty with condylar allograft and MCL reconstruction for a comminuted medial condyle fracture in an arthritic knee--a case report

Fractures of the distal femur in the elderly are usually due to low energy ground level fall onto a flexed knee. Pre-existing osteoarthritis and juxta-articular osteopenia in this age group result in high levels of comminution and articular damage at the time of injury, which challenges the management and treatment outcome. Preservation of knee function and early weight bearing should be the objectives of management in the geriatric population. We present in this case report of an elderly patient with comminuted medial condyle fracture with arthritic changes who had primary total knee arthroplasty utilizing condylar allograft and MCL reconstruction as an alternative to internal fixation.     

Fracture sacrum

An extremely rare case of combined transverse and vertical fracture of sacrum with neurological deficit is reported here with a six month follow-up. The patient also had an L1 compression fracture. The patient has recovered significantly with conservative management.     

Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literature

Many pathologic fractures, lumps on the head, elevated serum alkaline phosphatase (ALP) levels, and dental caries are the main characteristics of the rare autosomal dominantly inherited calvarial "doughnut lesions" (MIM 126550). We report the sporadic case of a 16-year-old patient who has had 10 pathologic fractures between age 6 weeks and 15 years. An elevated serum ALP level was found at age 11 and skull lumps at age 15; radiography showed frontal and parietal round radiolucencies surrounded by sclerotic bone comparable to doughnuts. Magnetic resonance imaging (MRI) showed skull lesions at an early stage. Because the findings are reminiscent of osteogenesis imperfecta (OI), collagen types I, III, and V were analyzed in fibroblasts and shown to be normal in terms of quantities, proportions, electrophoretic mobility, and thermostability. Thus, this rare syndrome can be distinguished from OI by collagen analysis and MRI of the skull at an early stage, even before palpable skull lesions appear.     

Spontaneous rupture of the spleen associated with pneumonia

Spontaneous rupture of the spleen is a rare and life-threatening complication of bacterial pneumonia, only six properly documented cases having been reported to date. A case of spontaneous splenic rupture associated with pneumonia caused byLegionella pneumophila is presented, together with a review of the literature. Most of the patients were aged over 50, but none had predisposing conditions. Left lung involvement predominated. Legionellosis and Q fever were the most frequent etiologic diagnoses. Empiric antibiotic therapy was adequate in all but two patients. One patient died; he had not undergone laparotomy. Spontaneous rupture of the spleen is an extremely rare complication of bacterial pneumonia that endangers the patient's life if surgery is not performed immediately. This complication should be borne in mind in patients with atypical pneumonia who have left quadrant pain and a falling hematocrit, even in the absence of prior splenomegaly.     

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

To evaluate if laboratory testing for osteogenesis imperfecta (OI) identifies children unrecognised by clinical examination in instances where non-accidental injury (NAI) is suspected as the likely cause of fracture, we carried out a retrospective review of available medical records and biochemical test results from 262 patients. Cultured fibroblasts were received for biochemical testing for OI from children in whom the diagnosis of NAI was suspected. Eleven of the samples had alterations in the amount or structure of type I collagen synthesised, consistent with the diagnosis of OI, and in 11 others we could not exclude OI. Referring physicians correctly identified children with OI in six of the 11 instances established by biochemical studies, did not identify OI by clinical examination in three, and there was inadequate clinical information to know in two others. Biochemical testing was inconclusive in 11 infants in whom the diagnosis of OI could not be excluded, none of whom were thought to be affected by the referring clinicians. Four children believed to have OI by clinical examination had normal biochemical studies, a false positive clinical diagnosis attributed, in large part, to the use of scleral hue (a feature that is age dependent) as a major diagnostic criterion.

Given the inability to identify all children with OI by clinical examination in situations of suspected NAI, laboratory testing for OI (and other genetic predispositions for fractures) is a valuable adjunct in discerning the basis for fractures and may identify a small group of children with previously undiagnosed OI.

     

Maturation of tissue engineered cartilage implanted in injured and osteoarthritic human knees

The regeneration of damaged organs requires that engineered tissues mature when implanted at sites of injury or disease. We have used new analytic techniques to determine the extent of tissue regeneration after treatment of knee injury patients with a novel cartilage tissue engineering therapy and the effect of pre-existing osteoarthritis on the regeneration process. We treated 23 patients, with a mean age of 35.6 years, presenting with knee articular cartilage defects 1.5 cm2 to 11.25 cm2 (mean, 5.0 cm2) in area. Nine of the patients had X-ray evidence of osteoarthritis. Chondrocytes were isolated from healthy cartilage removed at arthroscopy. The cells were cultured for 14 days, seeded onto esterified hyaluronic acid scaffolds (Hyalograft C), and grown for a further 14 days before implantation. A second-look biopsy was taken from each patient after 6 to 30 months (mean, 16 months). After standard histological analysis, uncut tissue was further analyzed using a newly developed biochemical protocol involving digestion with trypsin and specific, quantitative assays for type II collagen, type I collagen, and proteoglycan, as well as mature and immature collagen crosslinks. Cartilage regeneration was observed as early as 11 months after implantation and in 10 out of 23 patients. Tissue regeneration was found even when implants were placed in joints that had already progressed to osteoarthrosis. Cartilage injuries can be effectively repaired using tissue engineering, and osteoarthritis does not inhibit the regeneration process.     

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. Although OI generally results from mutations in the type I collagen genes, COL1A1 and COL1A2, the relationship between genotype and phenotype is not yet well understood. To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease. We identified 61 distinct heterozygous mutations in type I collagen, including five non-synonymous rare variants of unknown significance, of which 43 had not been seen previously. In addition, we found 60 SNPs in COL1A1, of which 17 were not reported previously, and 82 in COL1A2, of which 18 are novel. In three samples without collagen mutations, we found inactivating mutations in CRTAP and LEPRE1, suggesting a frequency of these recessive mutations of approximately 5% in OI type II. A computational model that predicts the outcome of substitutions for glycine within the triple helical domain of collagen alpha1(I) chains predicted lethality with approximately 90% accuracy. The results contribute to the understanding of the etiology of OI by providing data to evaluate and refine current models relating genotype to phenotype and by providing an unbiased indication of the relative frequency of mutations in OI-associated genes.     

Calvarial “doughnut lesions”: Clinical spectrum of the syndrome,report on a case,and review of the literature

Many pathologic fractures, lumps on the head, elevated serum alkaline phosphatase (ALP) levels, and dental caries are the main characteristics of the rare autosomal dominantly inherited calvarial “doughnut lesions” (MIM 126550). We report the sporadic case of a 16‐year‐old patient who has had 10 pathologic fractures between age 6 weeks and 15 years. An elevated serum ALP level was found at age 11 and skull lumps at age 15; radiography showed frontal and parietal round radiolucencies surrounded by sclerotic bone comparable to doughnuts. Magnetic resonance imaging (MRI) showed skull lesions at an early stage. Because the findings are reminiscent of osteogenesis imperfecta (OI), collagen types I, III, and V were analyzed in fibroblasts and shown to be normal in terms of quantities, proportions, electrophoretic mobility, and thermostability. Thus, this rare syndrome can be distinguished from OI by collagen analysis and MRI of the skull at an early stage, even before palpable skull lesions appear. © 2001 Wiley‐Liss. Inc.