The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical picture in women, the diagnosis of FD has typically been delayed for more than a decade, and the optimal time to initiate treatment remains controversial.

A Comparative Study Using Fluorescent Confocal Microscopy and Flow Cytometry to Evaluate Chondrocyte Viability in Human Osteochondral Allografts.

The preservation conditions of fresh osteochondral allografts for clinical applications are critical due their objective: to transplant mature hyaline cartilage containing viable chondrocytes, maintaining their metabolic activity and also preserving the structural and functional characteristics of the extracellular matrix. The aim of the present study was to compare fluorescence confocal microscopy and flow cytometry techniques to evaluate the viability of the chondrocytes present in the osteochondral tissue, in order to determine their effectiveness and thus ensure reproducibility and robustness of the analysis. To this end, osteochondral allografts from human cadaveric donors were preserved at 4 °C for 3 weeks in a preservation medium supplemented with antibiotic and antifungal agents.

Breath analysis using electronic nose and gas chromatography-mass spectrometry: A pilot study on bronchial infections in bronchiectasis.

Background And Aims: In this work, breath samples from clinically stable bronchiectasis patients with and without bronchial infections by Pseudomonas Aeruginosa- PA) were collected and chemically analysed to determine if they have clinical value in the monitoring of these patients.

Materials And Methods: A cohort was recruited inviting bronchiectasis patients (25) and controls (9). Among the former group, 12 members were suffering PA infection.

Isolated reconstruction of medial patellofemoral ligament with an elastic femoral fixation leads to excellent clinical results.

Purpose: The primary objective was to compare the functional outcomes after an isolated MPFL reconstruction using either a quasi-anatomical technique (group A) or an anatomical MPFL reconstruction (group B). The secondary objectives were to compare the rates of redislocation, range-of-motion and subjective patellar instability (Smillie test).

Methods: A multicenter longitudinal prospective comparative study was performed.

Molecular and clinicopathologic characterization of intravenous leiomyomatosis.

Intravenous leiomyomatosis (IVL) is an unusual uterine smooth muscle proliferation that can be associated with aggressive clinical behavior despite a histologically benign appearance. It has some overlapping molecular characteristics with both uterine leiomyoma and leiomyosarcoma based on limited genetic data. In this study, we assessed the clinical and morphological characteristics of 28 IVL and their correlation with molecular features and protein expression, using array comparative genomic hybridization (aCGH) and Cyclin D1, p16, phosphorylated-Rb, SMARCB1, SOX10, CAIX, SDHB and FH immunohistochemistry.

Evaluating for Tunnel Convergence in Anterior Cruciate Ligament Reconstruction With Modified Lemaire Tenodesis: What Is the Best Tunnel Angle to Decrease Risk?

Purpose: The purpose of this study was to analyze postoperative computed tomography (CT) scan evaluations of patients who had undergone a combined anterior cruciate ligament (ACL) reconstruction and modified Lemaire anterolateral tenodesis (ALT) with femoral fixation through a bony tunnel.

Methods: Postoperative CT scans of 52 patients who had undergone combined ACL and ALT were prospectively evaluated. ACL femoral tunnels were drilled through an anteromedial portal in the center of the native footprint.

Internal Fixation of Osteochondritis Dissecans of the Knee Leads to Good Long-Term Outcomes and High Degree of Healing without Differences between Fixation Devices.

The aim of the present study is to describe results at long-term follow-up of internal fixation of unstable Osteochondritis Dissecans (OCD) achieved with three different fixation devices in skeletally mature knees. A retrospective cohort study was performed at 5 to 19 years follow-up. Patient-reported questionnaires were collected at the final follow-up.

Selective bundle reconstruction in partial ACL tears leads to excellent long-term functional outcomes and a low percentage of failures.

Background: The optimal treatment of partial anterior cruciate ligament (ACL) tears continues to be debatable. Short-term results of selective bundle reconstruction have already been widely shown. The purpose of this study was to assess functional outcomes, subjective satisfaction and the failure rate of selective bundle reconstructions for partial ACL tears over a five to nine year follow-up period.

Biplane opening wedge high tibial osteotomy with a distal tuberosity osteotomy, radiological and clinical analysis with minimum follow-up of 2 years.

Background: High tibial osteotomy is an established and helpful treatment for unicompatimental osteoarthritis associated with varus deformity. However, asupratubercle high tibial osteotomy leads to a decrease in patellar height making the technique not suitable in case of concomitant patella baja. Moreover, this kind of osteotomy can change in situ forces at patellofemoral joint and the lateral patellar tilt.

Posterolateral corner of the knee: an expert consensus statement on diagnosis, classification, treatment, and rehabilitation.

Purpose: To develop a statement on the diagnosis, classification, treatment, and rehabilitation concepts of posterolateral corner (PLC) injuries of the knee using a modified Delphi technique.

Methods: A working group of three individuals generated a list of statements relating to the diagnosis, classification, treatment, and rehabilitation of PLC injuries to form the basis of an initial survey for rating by an international group of experts. The PLC expert group (composed of 27 experts throughout the world) was surveyed on three occasions to establish consensus on the inclusion/exclusion of each item.

Fresh Osteochondral and Meniscus Allografting for Post-traumatic Tibial Plateau Defects.

Large post-traumatic osteochondral defects of the proximal tibia in young active patients can be challenging because total or partial arthroplasties are to be avoided. The use of a fresh osteochondral allograft including its meniscus is one of the few options to biologically treat these injuries. Although the use of a fresh allograft is not easily accessible in some places and carries considerable logistical limitations, it is an alternative that provides viable chondrocytes to the defect.

Fresh Osteochondral Patellar Allograft Resurfacing.

The treatment of articular cartilage lesions in young patients is certainly a complex matter and subject of continuous research, particularly for those located at the patellofemoral joint, given its peculiar biomechanical characteristics. Osteochondral grafts can be of relatively small size when the defect is focal and in an area that allows good stability and consequently the graft's integration. In case of large or multifocal lesions, it is possible to consider an osteochondral transplantation of the entire articular surface of the patella.

Capsulodesis Versus Bone Trough Technique in Lateral Meniscal Allograft Transplantation: Graft Extrusion and Functional Results.

Purpose: To compare the radiographic results (in terms of graft extrusion) and the functional results of lateral meniscus allograft transplantations (MAT) performed with a bony fixation technique or with a soft tissue fixation technique after capsulodesis.

Methods: A prospective series of 29 consecutive lateral MAT was analyzed. The inclusion criterion for MAT was lateral joint line pain due to a previous meniscectomy.

Reconstruction of the Medial Patellofemoral Ligament.

Patellar instability has been shown to be associated with different major factors. However, studies have demonstrated that soft tissue reconstructions are adequate enough to reestablish patellar constraint. In recent years, the medial patellofemoral ligament has been recognized as the primary passive restraint for lateral translation of the patella.

Open-Wedge Valgus High Tibial Osteotomy Technique With Inverted L-Shaped Configuration.

High tibial osteotomy (HTO) is a useful alternative in the treatment of symptomatic varus malalignment. However, among its drawbacks is the tendency to decrease patellar height and increase the posterior tibial slope. The increased tibial slope increases anterior cruciate ligament tension and may compromise its function.

Predictors, Prognosis, and Management of New Clinically Important Atrial Fibrillation After Noncardiac Surgery: A Prospective Cohort Study.

Background: Despite the frequency of new clinically important atrial fibrillation (AF) after noncardiac surgery and its increased association with the risk of stroke at 30 days, there are limited data informing their prediction, association with outcomes, and management.

Methods: We used the data from the PeriOperative ISchemic Evaluation trial to determine, in patients undergoing noncardiac surgery, the association of new clinically important AF with 30-day outcomes, and to assess management of these patients. We also aimed to derive a clinical prediction rule for new clinically important AF in this population.

Lateral Capsular Fixation: An Implant-Free Technique to Prevent Meniscal Allograft Extrusion.

Although several surgical techniques have been described to perform meniscal allograft transplantation with good clinical results and although different methods of capsular stabilization can be found in the literature, there is no standard surgical technique to prevent a common complication in the most of series: the tendency to a radial displacement or extrusion of the transplanted menisci. We present a simple, reproducible, and implant-free technique to perform a lateral capsular fixation (capsulodesis) at the time of only the soft-tissue fixation technique of meniscal allograft transplantation in an effort to reduce or prevent the risk of graft extrusion. Using a minimum of two 2.

Pulmonary hypertension and congenital heart disease: An insight from the REHAP National Registry.

Background: Pulmonary arterial hypertension (PAH) is common in patients with congenital heart disease (CHD). Although Eisenmenger syndrome may be on decline, other types of PAH-CHD are increasing and little is known on long-term outcome of this population. We report the PAH-CHD population of Spain via a national registry with focus on long-term survival.

Update on heart failure, heart transplant, congenital heart disease, and clinical cardiology.

In the year 2012, 3 scientific sections-heart failure and transplant, congenital heart disease, and clinical cardiology-are presented together in the same article. The most relevant development in the area of heart failure and transplantation is the 2012 publication of the European guidelines for heart failure. These describe new possibilities for some drugs (eplerenone and ivabradine); expand the criteria for resynchronization, ventricular assist, and peritoneal dialysis; and cover possibilities of percutaneous repair of the mitral valve (MitraClip(®)).

The antinociceptive effects of JWH-015 in chronic inflammatory pain are produced by nitric oxide-cGMP-PKG-KATP pathway activation mediated by opioids.

Background: Cannabinoid 2 receptor (CB2R) agonists attenuate inflammatory pain but the precise mechanism implicated in these effects is not completely elucidated. We investigated if the peripheral nitric oxide-cGMP-protein kinase G (PKG)-ATP-sensitive K(+) (KATP) channels signaling pathway triggered by the neuronal nitric oxide synthase (NOS1) and modulated by opioids, participates in the local antinociceptive effects produced by a CB2R agonist (JWH-015) during chronic inflammatory pain.

Methodology/principal Findings: In wild type (WT) and NOS1 knockout (NOS1-KO) mice, at 10 days after the subplantar administration of complete Freund's adjuvant (CFA), we evaluated the antiallodynic (von Frey filaments) and antihyperalgesic (plantar test) effects produced by the subplantar administration of JWH-015 and the reversion of their effects by the local co-administration with CB2R (AM630), peripheral opioid receptor (naloxone methiodide, NX-ME) or CB1R (AM251) antagonists.

Peripheral effects of morphine and expression of μ-opioid receptors in the dorsal root ganglia during neuropathic pain: nitric oxide signaling.

Background: The local administration of μ-opioid receptor (MOR) agonists attenuates neuropathic pain but the precise mechanism implicated in this effect is not completely elucidated. We investigated if nitric oxide synthesized by neuronal (NOS1) or inducible (NOS2) nitric oxide synthases could modulate the local antiallodynic effects of morphine through the peripheral nitric oxide-cGMP-protein kinase G (PKG)-ATP-sensitive K+ (KATP) channels signaling pathway activation and affect the dorsal root ganglia MOR expression during neuropathic pain.

Results: In wild type (WT) mice, the subplantar administration of morphine dose-dependently decreased the mechanical and thermal allodynia induced by the chronic constriction of the sciatic nerve (CCI), which effects were significantly diminished after their co-administration with different subanalgesic doses of a selective NOS1 (N-[(4S)-4-amino-5-[(2-aminoethyl)amino]pentyl]-N'-nitroguanidine tris(trifluoroacetate) salt; NANT), NOS2 (L-N(6)-(1-iminoethyl)-lysine; L-NIL), L-guanylate cyclase (1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one; ODQ), PKG ((Rp)-8-(para-chlorophenylthio)guanosine-3',5'-cyclic monophosphorothioate; Rp-8-pCPT-cGMPs) inhibitor or a KATP channel blocker (glibenclamide).

The spinal cord expression of neuronal and inducible nitric oxide synthases and their contribution in the maintenance of neuropathic pain in mice.

Background: Nitric oxide generated by neuronal (NOS1), inducible (NOS2) or endothelial (NOS3) nitric oxide synthases contributes to pain processing, but the exact role of NOS1 and NOS2 in the maintenance of chronic peripheral neuropathic pain as well as the possible compensatory changes in their expression in the spinal cord of wild type (WT) and NOS knockout (KO) mice at 21 days after total sciatic nerve ligation remains unknown.

Methodology/principal Findings: The mechanical and thermal allodynia as well as thermal hyperalgesia induced by sciatic nerve injury was evaluated in WT, NOS1-KO and NOS2-KO mice from 1 to 21 days after surgery. The mRNA and protein levels of NOS1, NOS2 and NOS3 in the spinal cord of WT and KO mice, at 21 days after surgery, were also assessed.