Positive outcomes following Autologous Matrix-Induced Chondrogenesis (AMIC) in the treatment of retropatellar chondral lesions: a retrospective analysis of a patient registry.

BACKGROUND: The patellofemoral joint is a challenging environment for treating chondral defects. Among the surgical options for the treatment of chondral defects, the single-stage Autologous Matrix-Induced Chondrogenesis (AMIC) procedure uses a porcine collagen I/III membrane to enhance bone-marrow stimulation. However, longer term outcomes data are rare for this specific indication. In order to provide real-world information, an ongoing registry has been established to record patient data and outcomes when AMIC is used to treat chondral and osteochondral lesions. METHODS: Patient data were retrieved from an ongoing, prospective, multisite registry of patients who had undergone AMIC treatment of chondral defects. We identified 64 patients who had undergone AMIC for patellofemoral chondral defects and for whom pre-operative and at least 1 post-operative score were available were included in this retrospective data analysis. Outcomes were assessed via the KOOS, VAS pain, and the Lysholm scores. Outcomes at the post-operative time-points were analysed using a factorial ANOVA with post-hoc testing while linear regression was used to assess associations between the change in the Lysholm score and lesion size. RESULTS: There was a significant improvement in Lysholm, VAS pain, and KOOS scores from pre-operative to the 1st year post-operative (p < 0.001), and this was maintained during the follow-up. CONCLUSIONS: The forces exerted on the patellofemoral joint make this a challenging scenario for chondral repair. Our data demonstrates that the AMIC procedure with a collagen I/III membrane is an effective treatment for retropatellar cartilage lesions, and provides reliable results, with decreased pain and improved function. Importantly, these improvements were maintained through the follow-up period.

Comparison of hamstring and quadriceps tendon autografts in anterior cruciate ligament reconstruction with gait analysis and surface electromyography.

BACKGROUND: Anterior cruciate ligament (ACL) tear is the most frequent ligamentous injury of the knee joint. Autografts of hamstring (HS) or quadriceps tendons (QT) are used for primary ACL reconstruction. In this study, we planned to examine whether harvesting an HS graft is related to a deficit in dynamic knee stabilisation and strength revealed by dynamic valgus as compared with QT graft or the uninjured leg. Furthermore, if this deficit exists, is it compensated by higher neuromuscular activity of the quadriceps muscle? MATERIALS AND METHODS: Adult patients who had undergone ACL reconstruction with QT or HS autografts were included in this two-armed cohort study. Clinical outcome was assessed by clinical data analysis, physical examination and the Lysholm Score and Knee Injury and Osteoarthritis Score (KOOS). In addition, gait analysis and non-invasive surface electromyography were performed. RESULTS: A complete data set of 25 patients (QT: N = 8, HS: N = 17) was analysed. There was no significant demographic difference between the groups. Time between surgery and follow-up was significantly longer for the QT group. Significant differences regarding clinical outcome were not found between the treated and untreated leg or between the two groups, with excellent scores at the time of follow-up. Gait analysis revealed no significant differences of varus-valgus angles. Significant differences in surface electromyography were only found in the QT group with increased vastus medialis obliquus activity of the treated legs (p < 0.01). CONCLUSIONS: Our results suggest that harvesting of HS grafts for primary ACL reconstruction will not lead to a medial collapse and consequently impaired medial stabilisation of the knee when compared with QT grafts. LEVEL OF EVIDENCE: IV.

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.

Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31 years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30 years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. Among BRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, the TP53 mutation frequency was < 1% (2/233). Taking into consideration that TP53 mutation prevalence was comparable or even higher in some studies selecting patients with breast cancer onset at older ages or HER2-positive breast cancers, raises the question of whether a very early age of onset is an appropriate single TP53 genetic testing criterion.

Mid-term outcome of arthroscopic AMIC for the treatment of articular cartilage defects in the knee joint is equivalent to mini-open procedures.

INTRODUCTION: We present the first retrospective study that compares two various autologous matrix-induced chondrogenesis (AMIC) surgical interventions to repair grade III-IV cartilage defects in the knee. Patients who underwent minimally invasive (arthroscopy) or open (mini-arthrotomy) AMIC were followed up to 2 years to investigate if minimally invasive AMIC is superior to open procedures. MATERIALS AND METHODS: Overall n = 50 patients with focal and contained grade III-IV articular cartilage defects in the knee joint were followed in a consecutive cohort study. 20 patients were treated arthroscopically (female 7, male 13; age: mean 38.2 years, range 18-70 years; BMI: mean 27.0, range 18.7-34.7; defect size: mean 3.1 cm2, range 1.0-6.0 cm2), and 30 patients via mini-arthrotomy (female 13, male 17; age: mean 34.4 years, range 14-53 years, BMI: mean 23.9, range 18.4-28.7; defect size: mean 3.4 cm2, range 1.5-12.0 cm2). The primary defect localization was the medial femoral condyle. RESULTS: AMIC led to a significant improvement of VAS pain, KOOS and Lysholm scoring for up to 2 years compared to pre-op. Outcome analysis revealed no significant differences between the two different surgical approaches. CONCLUSIONS: Our results suggest that mini-open AMIC is equivalent to the arthroscopic procedure. The anticipatory hypothesis that minimally invasive approaches bring greater patient benefit per se could not be confirmed. Therefore, we recommend to perform AMIC where indicated and suggest that the surgeon's personal skills profile guide the choice of surgical approach. LEVEL OF EVIDENCE: III.

[Management and Outcome of Surgery in Patients with Severe Pulmonary Hypertension--A Single-Center Experience]. / Management und postoperatives Überleben bei chirurgischen Eingriffen an Patienten mit schwerer pulmonaler Hypertonie--etrospektive Analyse eines Zentrums.

BACKGROUND: Patients with pulmonary hypertension (PH) are at high risk when undergoing surgery. Up to one-third of patients suffer complications; recent studies report a mortality rate of 1 to 7%. Frequent events are deterioration of right heart function and infectious or bleeding complications. METHODS: Data of patients (age ≥ 18) with precapillary PH who need to undergo elective surgery between January 2006 and March 2015 were included in this retrospective analysis. All patients who were planned for surgery underwent the same procedure. First, patients were evaluated in the PH center. Thereafter, PH-relevant data were discussed with the surgeon/anesthesiologist team for risk-adapted planning of anesthesia and intervention. The present analysis comprises patient characteristics and information about surgery and post-interventional course. RESULTS: This study analyzes 31 surgical procedures carried out in PH patients (male: n = 8; PH-group I: n = 23, group III: n = 3, group IV: n = 5, mean age: 59.5 ± 15.3 years). Patients were characterized by compromised hemodynamics and exercise capacity: pulmonary vascular resistance: 805.4 ± 328.5 dyn*s*cm(-5), mean pulmonary arterial pressure: 46.3 ± 9.3 mmHg, 6-minute walking distance: 350.3 ± 123.3 m.The majority of interventions were performed under general anesthesia (n = 24). In 25 cases, the intraoperative monitoring was complemented with right heart catheterization.Eight interventions were associated with complications, three of which were serious. One patient died postoperatively owing to sepsis and right heart failure. CONCLUSION: A careful and structured planning of surgical interventions in patients with PH and the choice of surgical procedure and anesthesia adapted to the conditions of PH might help avoid complications. Further multicentric studies are needed.

Arthroscopic-assisted treatment of a reversed hill-sachs lesion: description of a new technique using cerament.

Purpose. Impaction fractures of the anterior aspect of the humeral head, the reversed Hill-Sachs lesion, are common in posterior shoulder dislocation. We present a new technique to address these lesions arthroscopic-assisted with the use of a bone substitute. Methods. We report the case of a 45-year-old male with a reversed Hill-Sachs lesion after posterior shoulder dislocation. Initially a glenohumeral arthroscopy is performed to address concomitant intra-articular injuries. Guided by the k-wire a cannulated sizer was inserted for reduction of the fracture under arthroscopic visualization. For reduction of the impacted part of the humeral head the subcortical defect was filled with an injectable bone substitute (Cerament) to prevent secondary dislocation. Results. X-ray at follow-up 6 months after the index procedure documents the bony remodeling of the bone substitute. At that time the patient was pain-free (VAS 0) and satisfied with the outcome (Constant score: 78, Rand-36 score: 84, Rowe score: 81) with a good ROM. Conclusions. In conclusion, arthroscopic-assisted reconstruction of reversed Hill-Sachs lesions with an injectable bone substitute is feasible and may provide patients with all the benefits of an anatomic reconstruction with decreased risks related to open surgery.

Cost-effectiveness of newborn screening for cystic fibrosis determined with real-life data.

BACKGROUND: Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival. METHODS: We used primary data to compare cost-effectiveness of four screening strategies for NBSCF, i.e. immunoreactive trypsinogen-testing followed by pancreatitis-associated protein-testing (IRT-PAP), IRT-DNA, IRT-DNA-sequencing, and IRT-PAP-DNA-sequencing, each compared to no-screening. A previously developed decision analysis model for NBSCF was fed with model parameters mainly based on a study evaluating two novel screening strategies among 145,499 newborns in The Netherlands. RESULTS: The four screening strategies had cost-effectiveness ratios varying from €23,600 to €29,200 per life-year gained. IRT-PAP had the most favourable cost-effectiveness ratio. Additional life-years can be gained by IRT-DNA but against higher costs. When treatment costs reduce with 5% due to early diagnosis, screening will lead to financial savings. CONCLUSION: NBSCF is as an economically justifiable public health initiative. Of the four strategies tested IRT-PAP is the most economic and this finding should be included in any decision making model, when considering implementation of newborn screening for CF.

[The clinical outcome after occipitocervical fusion due to metastases of the upper cervical spine: a consecutive case series and a systematic review of the literature]. / Das klinische Outcome okzipitozervikaler Stabilisierungen bei Metastasen der oberen Halswirbelsäule: Eine konsekutive Fallserie mit systematischem Review der Literatur.

BACKGROUND: Increasing incidences of osseous metastatic malignancies and higher life expectancy in patients are resulting in a raise of occipitocervical metastases. Those patients with infaust prognosis have a significantly reduced quality of life. In Germany, between 800 and 1680 new cases per year are expected. Treatment algorithms include the evaluation of the general condition, the operability of visceral metastases, the tumor localization, the sensitivity to chemo-/radiotherapy, the fracture risk and the extent of neurological deficits and myelopathies. MATERIAL/METHODS: A systematic review on clinical studies or case series in posterior occipitocervical fusions due to metastases to the craniocervical transition yielded nine publications with 48 patients without neurological deficit. The mean survival time in the given follow-up was 6.44 months (n = 26; SD: 5,28; 95 % CI: 4.3-8.57). When measured, the clinical outcome was improved towards the VAS, the DENIS Pain Scale and the quality of life through the activities of daily living (ADL). We searched our clinical database for occipitocervical stabilizations in patients with craniocervical metastases. The prospectively collected data included the preoperative Tokuhashi score, SIN score, neurological status, length of hospitalization, perioperative course/loss of blood/complication rate, as well as the Karnofsky- index and pain measured by VAS preoperatively and in follow-up. RESULTS: Six patients were treated in this consecutive case series. The median age was 72 years (min./max.: 65/82), the average BMI 31.75 (min./max.: 19.3/38.1). The mean preoperative Karnofsky-index was 35 % (min./max.: 23.99/46.01; 95 % CI: 8.39) the mean preoperative Tokuhashi-score 7 (min./max.: 4/10), the mean preoperative VAS7 (min./max.: 4.8/9.2; 95 % CI: 1.68). There were no perioperative complications. In the follow-up, one patient showed a loosening of the screws in the osteolytic massae laterales and one patient suffered from a construct failure after fall. DISCUSSION: Metastases of the craniocervical transition are rare. The initial treatment of instability includes the application of a rigid Miami-J-collar or a Halo fixator. The decision for an operative procedure must accurately assess the individual patient characteristics to provide him a balanced concept between operational risk and clinical benefit. The assessment should be based on the life expectation and the expected quality of life in dependency of the respective therapeutic concept and its risks. The sole posterior stabilization of craniocervical instability through occipitocervical fusion leads to a reduction of pain, has a low perioperative risk, and may prevent a hospitalization. It is justified for selected patients to receive this treatment to help alleviate pain and to improve their quality of life. From our experience, rare cases of pain without instability should undergo conservative treatment in the first line. Due to the low availability of data on the manifestation and the clinical course of craniocervical metastases, there is a need for the collection of both the descriptive patient data include the radiographic findings as well as the clinical outcome and socio-economic factors using appropriate scoring systems.

Refixation of osteochondral fractures by ultrasound-activated, resorbable pins: An ovine in vivo study.

OBJECTIVES: Osteochondral injuries, if not treated adequately, often lead to severe osteoarthritis. Possible treatment options include refixation of the fragment or replacement therapies such as Pridie drilling, microfracture or osteochondral grafts, all of which have certain disadvantages. Only refixation of the fragment can produce a smooth and resilient joint surface. The aim of this study was the evaluation of an ultrasound-activated bioresorbable pin for the refixation of osteochondral fragments under physiological conditions. METHODS: In 16 Merino sheep, specific osteochondral fragments of the medial femoral condyle were produced and refixed with one of conventional bioresorbable pins, titanium screws or ultrasound-activated pins. Macro- and microscopic scoring was undertaken after three months. RESULTS: The healing ratio with ultrasound-activated pins was higher than with conventional pins. No negative heat effect on cartilage has been shown. CONCLUSION: As the material is bioresorbable, no further surgery is required to remove the implant. MRI imaging is not compromised, as it is with implanted screws. The use of bioresorbable pins using ultrasound is a promising technology for the refixation of osteochondral fractures.

Outcome of Autologous Matrix Induced Chondrogenesis (AMIC) in cartilage knee surgery: data of the AMIC Registry.

INTRODUCTION: Autologous Matrix-Induced Chondrogenesis (AMIC) is an innovative treatment for localized full-thickness cartilage defects combining the well-known microfracturing with collagen I/III scaffold. The purpose of this analysis was to evaluate the medium-term results of this enhanced microfracture technique for the treatment of chondral lesions of the knee. METHODS AND MATERIALS: Patients treated with AMIC (Chondro-Gide, Geistlich Pharma, Switzerland) were followed using the AMIC Registry, an internet-based tool to longitudinally track changes in function and symptoms by the Lysholm score and VAS. RESULTS: A series of 57 patients was enrolled. The average age of patients (19 females, 38 males) was 37.3 years (range 17-61 years). The mean defect size of the chondral lesions was 3.4 cm(2) (range 1.0-12.0 cm(2)). All defects were classified as grade III (n = 20) or IV (n = 37) according to the Outerbridge classification. Defects were localized at the medial (n = 32) or lateral (n = 6) condyle, at the trochlea (n = 4) and at the patella (n = 15). The follow-up period was 2 years. The majority of patients were satisfied with the postoperative outcome, reporting a significant decrease of pain (mean VAS preop = 7.0; 1 year postop = 2.7; 2 years postop = 2.0). Significant improvement of the mean Lysholm score was observed as early as 1 year after AMIC and further increased values were noted up to 2 years postoperatively (preop. 50.1, 1 year postop. 79.9, 2 year postop. 85.2). CONCLUSIONS: AMIC is an effective and safe method of treating symptomatic chondral defects of the knee. However, further studies with long-term follow-up are needed to determine if the grafted area will maintain structural and functional integrity over time. LEVEL OF EVIDENCE: Prognostic study, Level IV.

Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition caused by germline FLCN mutations, and characterised by fibrofolliculomas, pneumothorax and renal cancer. The renal cancer risk, cancer phenotype and pneumothorax risk of BHD have not yet been fully clarified. The main focus of this study was to assess the risk of renal cancer, the histological subtypes of renal tumours and the pneumothorax risk in BHD. METHODS: In this study we present the clinical data of 115 FLCN mutation carriers from 35 BHD families. RESULTS: Among 14 FLCN mutation carriers who developed renal cancer 7 were <50 years at onset and/or had multifocal/bilateral tumours. Five symptomatic patients developed metastatic disease. Two early-stage cases were diagnosed by surveillance. The majority of tumours showed characteristics of both eosinophilic variants of clear cell and chromophobe carcinoma. The estimated penetrance for renal cancer and pneumothorax was 16% (95% minimal confidence interval: 6-26%) and 29% (95% minimal confidence interval: 9-49%) at 70 years of age, respectively. The most frequent diagnosis in families without identified FLCN mutations was familial multiple discoid fibromas. CONCLUSION: We confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16% for FLCN mutation carriers. The tumours were metastatic in 5 out of 14 patients and tumour histology was not specific for BHD. We found a pneumothorax risk of 29%. We discuss the implications of our findings for diagnosis and management of BHD.

Peroxisome proliferator activated receptor-α agonists suppress transforming growth factor-α-induced matrix metalloproteinase-9 expression in human keratinocytes.

The peroxisome proliferator-activated receptors (PPARs), PPARα, PPARδ, and PPARγ, are nuclear ligand-activated transcription factors that are best known as regulators of glucose and lipid metabolism. PPARα agonists have been shown to have profound anti-inflammatory and antiproliferative effects on human keratinocytes, and are important for maintaining homeostasis of the skin. To better characterize the mechanisms underlying these phenomena, we analysed the effects of PPARα agonists on transforming growth factor (TGF)-α-induced expression of matrix metalloproteinase (MMP)-9. MMP-9 expression in keratinocytes has previously been linked to inflammatory skin diseases, regenerative skin mechanisms, and tumour development and metastasis. We found that PPARα agonists effectively inhibited TGF-α-induced MMP-9 expression in human keratinocytes via a post-transcriptional mechanism, revealing a novel and important aspect of the anti-inflammatory and anticarcinogenic action of these compounds.

Mid-term results after operative treatment of rockwood grade III-V acromioclavicular joint dislocations with an AC-hook-plate.

Acromioclavicular joint dislocations often occur in athletic, young patients after blunt force to the shoulder. Several static and dynamic operative procedures with or without primary ligament replacement have been described. Between February 2003 and March 2009 we treated 313 patients suffering from Rockwood III-V lesions of the AC joint with an AC-hook plate. 225 (72 %) of these patients could be followed up. Mean operation time was 42 minutes in the conventional group and 47 minutes in the minimal invasive group. The postoperative pain on a scale from 1 to 10 (VAS-scale) was rated 2.7 in the conventional group and 2.2 in the minimal invasive group. Taft score showed very good and good results in 189 patients (84%). Constant score showed an average of 92.4 of 100 possible points with 89 % excellent and good results and 11 % satisfying results. All patients had some degree of pain or discomfort with the hook-plate in place. These symptoms were relieved after removal of the plate. The overall complication rate was 10.6 %. There were 6 superficial soft tissue infections, 1 fracture of the acromion, 7 redislocations after removal of the hook-plate. We observed 4 broken hooks which could be removed at the time of plate removal, 4 seromas and 2 cases of lateral clavicle bone infection, which required early removal of the plate. We can conclude that clavicle hook plate is a convenient device for the surgical treatment of Rockwood Grade III-V dislocations, giving good mid-term results with a low overall complication rate compared to the literature. Early functional therapy is possible and can avoid limitations in postoperative shoulder function.

PALB2 analysis in BRCA2-like families.

BRCA2 and PALB2 function together in the Fanconi anemia (FA)-Breast Cancer (BRCA) pathway. Mono-allelic and bi-allelic BRCA2 and PALB2 mutation carriers share many clinical characteristics. Mono-allelic germline mutations of BRCA2 and PALB2 are risk alleles of female breast cancer and have also been reported in familial pancreatic cancer, and bi-allelic mutations cause a severe form of Fanconi anemia. In view of these similarities, we investigated whether the prevalence of PALB2 mutations was increased in breast cancer families with the occurrence of BRCA2 associated tumours other than female breast cancer. PALB2 mutation analysis was performed in 110 non-BRCA1/2 cancer patients: (a) 53 ovarian cancer patients from female breast-and/or ovarian cancer families; (b) 45 breast cancer patients with a first or second degree relative with pancreatic cancer; and (c) 12 male breast cancer patients from female breast cancer families. One truncating PALB2 mutation, c.509_510delGA, resulting in p.Arg170X, was found in a male breast cancer patient. We conclude that germline mutations of PALB2 do not significantly contribute to cancer risk in non-BRCA1/2 cancer families with at least one patient with ovarian cancer, male breast cancer, and/or pancreatic cancer.

Posttraumatic severe infection of the ankle joint - long term results of the treatment with resection arthrodesis in 133 cases.

Although there is a clear trend toward internal fixation for ankle arthrodesis, there is general consensus that external fixation is required for cases of posttraumatic infection. We retrospectively evaluated the technique and clinical long term results of external fixation in a triangular frame for cases of posttraumatic infection of the ankle. From 1993 to 2006 a consecutive series of 155 patients with an infection of the ankle was included in our study. 133 cases of the advanced "Gächter" stage III and IV were treated with arthrodesis. We treated the patients with a two step treatment plan. After radical debridement and sequestrectomy the malleoli and the joint surfaces were resected. An AO fixator was applied with two Steinmann-nails inserted in the tibia and in the calcaneus and the gap was temporary filled with gentamicin beads as the first step. In the second step we performed an autologous bone graft after a period of four weeks. The case notes were evaluated regarding trauma history, medical complaints, further injuries and illnesses, walking and pain status and occupational issues. Mean age at the index procedure was 49.7 years (18-82), 104 patients were male (67.1%). Follow up examination after mean 4.5 years included a standardised questionnaire and a clinical examination including the criteria of the AOFAS-Score and radiographs. 92.7% of the cases lead to a stable arthrodesis. In 5 patients the arthrodesis was found partly-stable. In six patients (4,5%) the infection was not controllable during the treatment process. These patients had to be treated with a below knee amputation. The mean AOFAS score at follow up was 63.7 (53-92). Overall there is a high degree of remaining disability. The complication rate and the reduced patient comfort reserve this method mainly for infection. Joint salvage is possible in the majority of cases with an earlier stage I and II infection.

Mid-term results of Autologous Matrix-Induced Chondrogenesis for treatment of focal cartilage defects in the knee.

Articular cartilage defects heal poorly. Autologous Matrix-Induced Chondrogenesis (AMIC) is an innovative treatment for localized full-thickness cartilage defects combining the well-known microfracturing with collagen scaffold and fibrin glue. The purpose of this prospective study was to evaluate the medium-term results of this enhanced microfracture technique for the treatment of chondral lesions of the knee. Thirty-two chondral lesions in 27 patients were treated with AMIC. Within the context of clinical follow-up, these patients were evaluated for up to 5 years after the intervention. Five different scores (Meyer score, Tegner score, Lysholm score, ICRS score, Cincinnati score) as well as radiographs were used for outcome analysis. Articular resurfacing was assessed by magnetic resonance imaging (MRI). The average age of patients (11 females, 16 males; mean body mass index 26, range 20-32) was 37 years (range 16-50 years). The mean defect size of the chondral lesions was 4.2 cm(2) (range 1.3-8.8 cm(2)). All defects were classified as grade IV according to the Outerbridge classification. The follow-up period was between 24 and 62 months with a mean of 37 months. Twenty out of 23 individuals (87%) questioned were subjectively highly satisfied with the results after surgery. Significant improvement (P < 0.05) of all scores was observed as early as 12 months after AMIC, and further increased values were notable up to 24 months postoperatively. MRI analysis showed moderate to complete filling with a normal to incidentally hyperintense signal in most cases. Results did not show a clinical impact of patient's age at the time of operation, body mass index and number of previous operations (n.s.). In contrast, males showed significant higher values in the ICRS score compared to their female counterparts. AMIC is an effective and safe method of treating symptomatic full-thickness chondral defects of the knee in appropriately selected cases. However, further studies with long-term follow-up are needed to determine whether the grafted area will maintain structural and functional integrity over time.

[Single bundle anterior cruciate ligament reconstruction using quadriceps tendon autografts]. / Autologe Ersatzplastik bei vorderer Kreuzbandruptur mittels freier Quadrizepssehne.

AIM: The purpose of this study was to evaluate postoperative outcome and functional scores after single bundle anterior cruciate ligament (ACL) reconstruction with the use of quadriceps tendon autografts after a 16 (12-24) month follow-up. METHOD: 54 patients (9 women, 45 men, body mass index [BMI] 25.3 [18.1-36.3 kg/m (2)]) were included in this prospective series, treated between January 2004 and December 2005. Ligament stability was assessed with the Lachmann and pivot-shift tests and a KT 1000 arthrometer. Tegner index, Lysholm-Gilquist score and the International Knee Documentation Committee (IKDC) were employed to evaluate the functional outcomes. In addition, the single leg hop test was performed. RESULTS: Ligament arthrometry using the KT 1000 arthrometer demonstrated a mean side-to-side difference of 1.53 mm (0.2-4.1 mm). Regarding the Lachmann test, 17 patients (32%) showed 1+ laxity and no patient had an abnormal pivot-shift. The mean Tegner activity score was 4.22 (1-10), the mean Lysholm score was 80.8 (20-100) and the mean IKDC score 68.1 (29-87). Results of the single leg hop test revealed a mean decline of the treated leg to 87.7% (70-100%) of the contralateral side. The mean extension was reduced by 1.7 degrees (0-10 degrees) on the treated knee and the flexion by 2.1 degrees (0-10 degrees), compared to the contralateral knee. CONCLUSION: Single bundle anterior cruciate ligament reconstruction using quadriceps tendon demonstrates highly satisfactory results. Due to a moderate donor site morbidity and preservation of the medial stabilizing structures of the knee a wider use in primary cruciate ligament reconstruction may arise in the future.

Early Weight Bearing of Calcaneal Fractures Treated by Intraoperative 3D-Fluoroscopy and Locked-Screw Plate Fixation.

Operative therapy of intraarticular fractures of the calcaneus is an established surgical standard. The aim is an accurate reduction of the fracture with reconstruction of Boehler's angle, length, axis and subtalar joint surface. Intraoperative 3D-fluoroscopy with the Siremobil Iso-C 3D(R) mobile C-arm system is a valuable assistant for accurate reconstruction of these anatomical structures. Remaining incongruities can be recognized and corrected intraoperatively. The achieved reduction can be fixed by the advantages of an internal fixator (locked-screw plate interface). In the period of October 2002 until April 2007 we operated 136 patients with intraarticular fractures of the calcaneus by means of anatomical reduction, and internal plate fixator under intraoperative control of 3D-fluoroscopy. All patients were supplied with an orthesis after the operation which allowed weight bearing of 10 kg for 12 weeks for the patients operated between October 2002 and October 2004 (Group A). Transient local osteoporosis was observed in all X-Rays at follow-up after an average of 8,6 months. Therefore we changed our postoperative treatment plan for the patients operated between November 2004 and April 2007 (Group B). Weight bearing started with 20 KG after 6 weeks, was increased to 40 KG after 8 weeks and full weight bearing was allowed after 10 weeks for these patients. In no case a secondary dislocation of the fracture was seen. No bone graft was used. At follow up the average American Foot and Ankle Society Score (AOFAS) were 81 for Group_A, compared to 84 for Group B, treated with earlier weight bearing. Autologous bone graft was not necessary even if weight bearing was started after a period of six weeks postoperatively. The combination of 3D-fluoroscopy with locked internal fixation showed promising results. If the rate of patients developing subtalar arthrosis will decrease by this management will have to be shown in long term follow up.

Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome.

Birt-Hogg-Dubé syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation.

Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene.

BACKGROUND: Inability to produce surfactant protein (SP)-B causes fatal neonatal respiratory disease. Homozygosity for a frameshift mutation (121ins2) in the gene encoding SP-B (SFTPB) is the predominant but not the exclusive cause of disease. OBJECTIVES: To report a novel mutation in the SFTB gene. METHODS: We analyzed tracheal aspirates, lung tissue obtained by in vivo lung biopsy and DNA from a newborn infant with lethal respiratory failure. RESULTS: DNA analysis revealed a large homozygous genomic deletion encompassing exon 7 and 8 of SFTPB gene, a mutation we described as c.673-1248del2959. The parents were both heterozygous carriers. Analysis of the SP profile in tracheal aspirates and lung tissue by immunohistochemistry, routine and electron microscopy supported the diagnosis of SP-B deficiency and suggested that this large mutation might lead to abnormal routing and processing of proSP-B and proSP-C. CONCLUSIONS: This report shows that SP-B deficiency can also be caused by a multi exon deletion in the SFTPB gene and this finding emphasizes the importance of using modern DNA analysis techniques capable of detecting multi exon deletions.