Genotypic detection of ß-lactamase-producing Escherichia coli isolates obtained from Seven Crater Lakes of San Pablo, Laguna, Philippines.

The extended-spectrum ß-lactamase (ESBL)-producing Escherichia coli is becoming a global public health concern. More comprehensive surveillance of ß-lactam resistance in E. coli would improve monitoring strategies and control resistance transmission in contaminated environments. This study investigated the prevalence of ß-lactamase genes in E. coli isolated from the Seven Crater Lakes in San Pablo, Laguna, Philippines. Water samples from lakes were collected for the isolation of E. coli (n = 846) and molecular characterization by detecting the presence of the uidA gene. The isolates were then tested for the presence of ß-lactamase genes using PCR. Among the screened genes, blaAmpC was the most dominant (91%). Other ß-lactamase genes such as blaTEM, blaSHV, and blaCTXM were also detected with percentage occurrence of 34, 5, and 1%, respectively. Multiple genes within individual isolates were also observed, wherein blaTEM/AmpC was the most prevalent gene combination. Moreover, a significant negative correlation between blaAmpC with blaSHV and blaCTXM was depicted in this study. Overall, these findings demonstrate the presence of ß-lactamase genes in E. coli in the Seven Crater Lakes of San Pablo and can be used in developing effective strategies to control antibiotic resistance in environmental waters.

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.

PURPOSE: Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum. Immunodeficiency is of concern in most cases. Although patients exhibit orthopaedic problems, the orthopaedic literature on CHH patients is scant at best. The objective of this study was to characterize the orthopaedic manifestations of CHH based on the authors' unique access to the largest collection of CHH patients ever reported. METHODS: The authors examined charts and/or radiographs in 135 cases of CHH. We analyzed the orthopaedic manifestations to better characterize and further understand the orthopaedic surgeon's role in this disorder. In addition to describing the clinical characteristics, we report on our surgical experience in caring for CHH patients. RESULTS: Genu varum, with or without knee pain, is the most common reason a patient with CHH will seek orthopaedic consultation. Of the cases reviewed, 32 patients had undergone surgery, most commonly to correct genu varum. CONCLUSION: This paper characterizes the orthopaedic manifestations of CHH. Characterizing this condition in the orthopaedic literature will likely assist orthopaedic surgeons in establishing a correct diagnosis and appreciating the orthopaedic manifestations. It is important that the accompanying medical conditions are appreciated and evaluated.

An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome.

BACKGROUND: The genu valgum deformity seen in the Ellis-van Creveld syndrome is one of the most severe angular deformities seen in any orthopaedic condition. It is likely a combination of a primary genetic-based dysplasia of the lateral portion of the tibial plateau combined with severe soft-tissue contractures that tether the tibia into valgus deformations. Progressive weight-bearing induces changes, accumulating with growth, acting on the initially distorted and valgus-angulated proximal tibia, worsening the deformity with skeletal maturation. The purpose of this study is to present a relatively large case series of a very rare condition that describes a surgical technique to correct the severe valgus deformity in the Ellis-van Creveld syndrome by combining extensive soft-tissue release with bony realignment. METHODS: A retrospective review examined 23 limbs in 13 patients with Ellis-van Creveld syndrome that were surgically corrected by two different surgeons from 1982 to 2011. Seven additional patients were identified, but excluded due to insufficient chart or radiographic data. A successful correction was defined as 10° or less of genu valgum at the time of surgical correction. Although not an outcomes study, maintenance of 20° or less of genu valgum was considered desirable. Average age at surgery was 14.7 years (range 7-25 years). Clinical follow-up is still ongoing, but averages 5.0 years (range 2 months to 18 years). Charts and radiographs were reviewed for complications, radiographic alignment, and surgical technique. The surgical procedure was customized to each patient's deformity, consisting of the following steps: 1. Complete proximal to distal surgical decompression of the peroneal nerve 2. Radical release and mobilization of the severe quadriceps contracture and iliotibial band contracture 3. Distal lateral hamstring lengthening/tenotomy and lateral collateral ligament release 4. Proximal and distal realignment of the subluxed/dislocated patella, medial and lateral retinacular release, vastus medialis advancement, patellar chondroplasty, medial patellofemoral ligament plication, and distal patellar realignment by Roux-Goldthwait technique or patellar tendon transfer with tibial tubercle relocation 5. Proximal tibial varus osteotomy with partial fibulectomy and anterior compartment release 6. Occasionally, distal femoral osteotomy RESULTS: In all cases, the combination of radical soft-tissue release, patellar realignment and bony osteotomy resulted in 10° or less of genu valgum at the time of surgical correction. Complications of surgery included three patients (five limbs) with knee stiffness that was successfully manipulated, one peroneal nerve palsy, one wound slough and hematoma requiring a skin graft, and one pseudoarthrosis requiring removal of hardware and repeat fixation. At last follow-up, radiographic correction of no more than 20° of genu valgum was maintained in all but four patients (four limbs). Two patients (three limbs) had or currently require revision surgery due to recurrence of the deformity. CONCLUSION: The operative approach presented in this study has resulted in correction of the severe genu valgum deformity in Ellis-van Creveld syndrome to 10° or less of genu valgum at the time of surgery. Although not an outcomes study, a correction of no more than 20° genu valgum has been maintained in many of the cases included in the study. Further clinical follow-up is still warranted. LEVEL OF EVIDENCE: IV.

Management of the rigid cavus foot in children and adolescents.

This article reviews historical approaches to the various osteotomies in the treatment of rigid cavus feet in children, with an emphasis on the biplanar nature of historical osteotomies. The Akron dome midfoot osteotomy is performed at the apex of the rigid cavus deformity and allows for maximum correction in any plane, and for varus, valgus, dorsal, plantar, and rotational correction. In that regard, the Akron dome midfoot osteotomy provides the greatest amount of multiplanar correction. It does not, however, provide correction of hindfoot deformities or deformity distal to the neck of the metatarsal.

Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome.

BACKGROUND: Ellis-van Creveld is a dwarfing syndrome transmitted as an autosomal recessive trait. The constant features of the condition include acromelic-micromelic dwarfism, ectodermal dysplasia involving the nails, teeth and gums, postaxial polydactyly of the hands and congenital heart disease. Congenital heart disease affects 50-60 % of all patients and nearly 50 % of patients die by 18 months of age from cardiopulmonary complications. This study is intended to characterise the orthopaedic manifestations of Ellis-van Creveld based on the authors' unique opportunity to interview and examine the largest group of patients to date in the literature. METHODS: Detailed interviews, physical examinations and/or radiographs were available on 71 cases of Ellis-van Creveld syndrome. Data were collected from physical examinations, radiographs, computed tomography (CT) reconstruction and magnetic resonance imaging (MRI) of the knee. Pathoanatomy of the knee was reinforced by the direct surgical observation of 25 limbs surgically managed during adolescence and puberty. RESULTS: A number of interesting clinical and radiographic abnormalities were noted in the upper extremities and lower extremities, but by far the most significant orthopaedic finding was a severe and relentlessly progressive valgus deformity of the knee. Although many patients had difficulties making a "fist" with the hand, no patient reported any functional disability. The severe valgus deformity of the knee is the result of a combination of profound contractures of the iliotibial band, lateral quadriceps, lateral hamstrings and lateral collateral ligament, leading to lateral patellar subluxation and dislocation. The lateral portion of the upper tibial plateau presents with cupping and progressive depression of the lateral plateau, along with severe valgus angulation of the proximal tibia and fibula. A proximal medial tibial exostosis is seen in nearly all cases. CONCLUSION: This is the largest group of Ellis-van Creveld syndrome patients identified in the literature. An understanding of the orthopaedic pathoanatomy of the knee deformity is critical to determining the appropriate surgical management. This paper characterises the orthopaedic manifestations of Ellis-van Creveld syndrome and especially identifies the pathoanatomy of the severe and progressive valgus knee deformity. LEVEL OF EVIDENCE: Level II.

The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia.

PURPOSE: Surgical correction of the hip and knee in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy of both the bone and soft tissues. The objective of this study is to provide a 3-dimensional model and carefully and extensively describe the pathoanatomy of the diastrophic hip and knee. METHODS: Three-dimensional computer model reconstructions were developed based on clinical, radiographic, and surgical observations performed "meticulously" by a single surgeon on 110 hips in 55 patients. An additional 13 patients seen by another surgeon were also reviewed. In addition to the clinical and radiographic evaluations, 10 computed tomographic scans were performed of the pelvis and hip areas and 53 arthrograms were done in 13 patients. Sixty-six patients underwent a myriad of operative procedures on the hip and proximal femur. RESULTS: The typical pathoanatomy seen in cases of diastrophic dysplasia reflects the severe and rampantly progressive flexion deformity of the hip and knee with time, and the anatomical aberrations of development of the proximal femur and the knee joint, which are highlighted in our computer model. Replacement arthroplasty at the hip and knee may hold the only solution to adolescents and adults with advanced disease; however, the unavailability of long-term data precludes a reasonable management recommendation. CONCLUSIONS: The disturbed pathoanatomy of the diastrophic dysplasia hip and knee reflects the difficulties in achieving any substantial surgical correction even with customization. This report provides the most extensive 3-dimensional pathoanatomical observations as yet presented in the literature. LEVEL OF EVIDENCE: Level II.

The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia.

BACKGROUND: Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult secondary to the markedly distorted pathoanatomy. Several authors have described superficially some of the clinical and radiographic findings typical of the foot and ankle with diastrophic dysplasia; however, no description of the specific osseous deformities has been described in the literature. The purpose of this article was to provide such a model, detailing the nature of deformity of each of the bones and joints in the foot and ankle and their relationship to each other from a pathoanatomical standpoint. METHODS: A 3-dimensional sculpted model and detailed drawings were developed based on radiographs, computed tomography reconstructions, and direct observation both in and out of surgery. Fifty-three patients representing 106 feet formed the basis of this analysis (age, 3 days to 32 years). An additional 12 feet of the senior author's cases provided further confirmation of these deformities. RESULTS: Superficially, the apparent deformity most closely resembles a Z-type foot or serpentine foot. The overall deformity bears no true resemblance to the idiopathic clubfoot. Typically, the hindfoot is in severe equinus with the subtalar joint being deformed into valgus and moving more posteriorly. In contrast to the idiopathic clubfoot, the navicular was markedly angulated laterally on the talus. The medial cuneiform was deviated medially on the navicular articulation. The forefoot was foreshortened and in marked varus positioning with varus of the entire metatarsals. The second to fifth metatarsals bend and curve near their bases as they tilt toward the first metatarsal. CONCLUSION: The disturbed pathoanatomy of the diastrophic dysplasia foot and ankle reflects the difficulties in achieving any substantial surgical correction without customization. Surgical management of the foot and ankle in diastrophic dysplasia must be individualized and based on a clear understanding of the unique segmental malalignment of the foot and ankle.