Revision Hip Arthroplasty in Patient with Acetabulum Migration into Subperitoneal Space-A Case Report.

Revision hip arthroplasty procedures have been extensively discussed in the literature. At the same time, discussions of the management of acetabular component protrusion into the pelvic cavity, and, more specifically, the subperitoneal space, necessitating an additional abdominal approach for the revision arthroplasty, have only been published as case reports and descriptions of transperitoneal approaches have been even rarer. This paper presents the case of a 63-year-old female patient in whom a peritoneal approach was necessary to access a migrated acetabular component. The outcome of the treatment, which represented a complex orthopedic and general surgical problem, was good. We believe that the complexity of revision hip arthroplasty in patients with protrusion of the acetabular component together with the head and proximal part of the stem of the implant into subperitoneal space calls for a careful re-analysis of the category of Type III bony acetabulum defects according to Paprosky, where the recognition of two subtypes would facilitate analysis of such cases.

Restoration of Five Digit Hand in Type III B & C Thumb Hypoplasia-A Game Changer in Surgical Management.

Background Hypoplasia of thumb is the second common congenital difference of the thumb, next only to duplication. It may occur as an isolated hand difference or as a part of radial longitudinal deficiency. In approximately 60% of these children, the radius shows hypoplasia. The incidence of thumb hypoplasia is one in 100,000 live births. In 50% of these children, the other hand will also have similar deficiency, although variable in severity. Hypoplasia of thumb has been classified into five major categories, according to the increasing severity of hypoplasia. Type III hypoplasia of thumb is characterized by skeletal hypoplasia involving the first metacarpal and carpometacarpal joint, absent intrinsic muscles and rudimentary extrinsic muscles. It was further subclassified into types A, B & C. Type III B, described by Manske and McCarroll, involves extensive deficiency of extrinsic and intrinsic musculature with aplasia of the metacarpal base. Type III C, described by Buck-Gramcko, has hypoplastic metacarpal head. Methods It is widely believed that reconstruction of Type III B & C hypoplastic thumb will not be functionally useful, and they are often included in the indications for pollicization in thumb hypoplasia. In India, we frequently come across parents, who are not willing to remove the hypoplastic digit. This forced us to find out a way to reconstruct the hypoplastic thumb into a functionally useful digit. We describe our surgical technique of reconstruction of hypoplastic thumbs and our experience in utilization of the technique in five children with Type III B & C hypoplasia of thumb. Carpometacarpal joint of thumb was reconstructed and stabilized with a toe phalangeal transfer in the first stage and an opponensplasty was done in the second stage to improve movement. Results In all the five operated children, our surgical technique yielded a stable thumb which was functional. The donor site morbidity was acceptable. The parents were satisfied with the appearance and functional improvement. Conclusion Surgical reconstruction of hypoplastic thumbs of Type III B & C is possible, and conversion of these poorly developed remnants into a useful digit by our surgical technique is a gamechanger in the management of thumb hypoplasia.

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.

OBJECTIVE: To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease. STUDY DESIGN: A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements. RESULTS: Nineteen patients aged 1.6-31.7 years were enrolled. Over 12 months, cognition, adaptive behavior, and cortical gray matter volume (GMV) declined in most patients. For patients diagnosed at <6 years, although there was no overall mean change over 12 months, there were 10%-48%, 3%-66%, and 1%-14% decreases in cognitive development quotient score, Vineland Adaptive Behavior Scales, Second Edition development quotient score, and cortical GMV in 8/12, 9/11, and 10/11 patients, respectively. Mean urine GAG and cerebrospinal fluid heparan sulfate levels were stable, but patients diagnosed at <6 years (n = 14) had higher levels than those ≥6 years at diagnosis (n = 4), which was likely associated with age as they also were generally younger. CONCLUSIONS: Cognition, adaptive behavior, and cortical GMV measures sensitively tracked deterioration in patients with mucopolysaccharidosis type IIIB aged ≤8.6 years. Biomarkers may have prognostic value, but their sensitivity to disease progression requires further investigation. These findings should help evaluate enzyme replacement and gene therapy agents for this rare, devastating, neurodegenerative disease. TRIAL REGISTRATION: ClinicalTrials.gov: NCT01509768.

Type III B endoleak leading to aortic rupture after endovascular repair: analysis of errors in follow up and treatment.

BACKGROUND: The aim of this paper is to describe the case of a patient with a type III endoleak which was misdiagnosed and treated without success as a type I-II endoleak. An incorrect endoleak diagnosis lead to aortic rupture, which could be avoided with a correct diagnosis. Type III B endoleaks presents some diagnostic difficulties, in the case we describe, they were increased by late presentation and poor follow up. CASE PRESENTATION: We revised this 89 years old patient history, he underwent EVAR 11 years before, a control scan six month after surgery, showed a type I-II endoleak which was still present after first intervention. He was treated with proximal cuff positioning and embolization coils. Eight years after first intervention, a Computed Tomography Angiography (CTA) showed persisting type I-II endoleak so same problem was suspected and patient was treated with another proximal cuff and right iliac extension. A Magnetic Resonance Imaging (MRI) control, six months later, showed an increase of the aneurysm sac size of 12 mm. Two years later patient presented at emergency room at our hospital with malaise, sweating and abdominal pain. Computed Tomography (CT-scan) showed increased abdominal aortic diameter (140 × 130 mm) with rupture and hemoperitoneum. He was treated in urgent fashion with endograft removal and aortic-iliac Dacron graft reconstruction. During surgery three large tears on endograft fabric and a stent suture rupture were observed. After surgery patient was admitted in intensive care unit and died on second postoperative day due to multiorgan failure. CONCLUSIONS: Type III endoleak is an uncommon complication: a correct and prompt diagnosis is mandatory for appropriate treatment After EVAR, and especially in those cases of known endoleak, a correct follow-up is mandatory and in case of diagnostic doubts correct imaging should be performed. Media contrast allergies should not be neglected and should not represent a CTA limitation.

Preferred transduction with AAV8 and AAV9 via thalamic administration in the MPS IIIB model: A comparison of four rAAV serotypes.

Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disease caused by a deficiency of N-acetyl-glucosaminidase (NAGLU) activity. Since early therapeutic intervention is likely to yield the most efficacious results, we sought to determine the possible therapeutic utility of rAAV in early gene therapy based interventions. Currently, the application of recombinant adeno-associated virus (AAV) vectors is one of the most widely used gene transfer systems, and represents a promising approach in the treatment of MPS IIIB. From a translational standpoint, a minimally invasive, yet highly efficient method of vector administration is ideal. The thalamus is thought to be the switchboard for signal relay in the central nervous system (CNS) and therefore represents an attractive target. To identify an optimal AAV vector for early therapeutic intervention, and establish whether thalamic administration represents a feasible therapeutic approach, we performed a comprehensive assessment of transduction and biodistribution profiles of four green fluorescent protein (GFP) bearing rAAV serotypes, -5, -8, -9 and -rh10, administered bilaterally into the thalamus. Of the four serotypes compared, AAV8 and -9 proved superior to AAV5 and -rh10 both in biodistribution and transduction efficiency profiles. Genotype differences in transduction efficiency and biodistribution patterns were also observed. Importantly, we conclude that AAV8 and to a lesser extent, AAV9 represent preferable candidates for early gene therapy based intervention in the treatment of MPS IIIB. We also highlight the feasibility of thalamic rAAV administration, and conclude that this method results in moderate rAAV biodistribution with limited treatment capacity, thus suggesting a need for alternate methods of vector delivery.