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The utilization of nerve transfer procedures in the upper extremity following brachial plexus injury, trauma, spinal cord injury, tumors, infection or other etiologies are well established. Nerve injuries in the lower extremity pose several additional challenges, including longer distance to target motor end plates, far-proximal injuries in the lumbar plexus or pelvis, delayed presentation, and concomitant limb trauma. Nerve transfers in the lower extremity have the potential to provide functional (sensory or motor) recovery distally after direct surgical coaptation of a functional donor nerve to a non-functional recipient nerve. In addition, the ability to perform pure motor or sensory fascicular transfers allows for focused recovery while limiting donor morbidity. Indications for nerve transfers in the lower extremity are evolving, but have been utilized for non-recovering peroneal, obturator, femoral or tibial nerve palsies, to provide protective sensation to the plantar aspect of the of foot, as well as for painful neuropathies/neuromas. There is a paucity of orthopaedic literature on this topic and our review aims to highlight the current state of lower extremity nerve transfers as they relate to the practicing orthopaedist, including future directions in the field.

Proximal femur varus derotation osteotomy (VDRO) is the primary component of hip reconstruction surgery for the management of hip subluxation/dislocation in patients with neuromuscular dysplasia. Understanding the pathophysiology and abnormal proximal femur geometry is crucial to performing a successful surgery and dosing the surgical correction accurately. Children with neuromuscular hip dysplasia experience increased coxa valga, femoral anteversion and variable degrees of acetabular dysplasia. Understanding the relationship between these three anatomic aberrations can be difficult with standard two-dimension plain radiography. In this paper, we will review our novel three-dimensional imaging protocol to assess the pathologic anatomy of the proximal femur and acetabulum in children undergoing neuromuscular hip reconstruction. Understanding the anatomic relationship between the neck shaft angle, anteversion and acetabular dysplasia aids in the planning and execution of effective VDRO and hip reconstruction surgery.

Acute flaccid myelitis (AFM) is a disabling, polio-like illness mainly affecting children. Outbreaks of AFM have occurred across multiple global regions since 2012, and the disease appears to be caused by non-polio enterovirus infection, posing a major public health challenge. The clinical presentation of flaccid and often profound muscle weakness (which can invoke respiratory failure and other critical complications) can mimic several other acute neurological illnesses. There is no single sensitive and specific test for AFM, and the diagnosis relies on identification of several important clinical, neuroimaging, and cerebrospinal fluid characteristics. Following the acute phase of AFM, patients typically have substantial residual disability and unique long-term rehabilitation needs. In this Review we describe the epidemiology, clinical features, course, and outcomes of AFM to help to guide diagnosis, management, and rehabilitation. Future research directions include further studies evaluating host and pathogen factors, including investigations into genetic, viral, and immunological features of affected patients, host-virus interactions, and investigations of targeted therapeutic approaches to improve the long-term outcomes in this population.

Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single-gene disorders is under-characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP.We performed comprehensive phenotyping and WES on a prospective cohort of individuals with cryptogenic CP (who meet criteria for CP; have no risk factors), non-cryptogenic CP (who meet criteria for CP; have at least one risk factor), and CP masqueraders (who could be diagnosed with CP, but have regression/progressive symptoms). We characterized motor phenotypes, ascertained medical comorbidities, and classified brain MRIs. We analyzed WES data using an institutional pipeline.We included 50 probands in this analysis (20 females, 30 males). Twenty-four had cryptogenic CP, 20 had non-cryptogenic CP, five had CP masquerader classification, and one had unknown classification. Hypotonic-ataxic subtype showed a difference in prevalence across the classification groups (p = 0.01). Twenty-six percent of participants (13/50) had a pathogenic/likely pathogenic variant in 13 unique genes (ECHS1, SATB2, ZMYM2, ADAT3, COL4A1, THOC2, SLC16A2, SPAST, POLR2A, GNAO1, PDHX, ACADM, ATL1), including one patient with two genetic disorders (ACADM, PDHX) and two patients with a SPAST-related disorder. The CP masquerader category had the highest diagnostic yield (n = 3/5, 60%), followed by the cryptogenic CP category (n = 7/24, 29%). Fifteen percent of patients with non-cryptogenic CP (n = 3/20) had a Mendelian disorder on WES.WES demonstrated a significant prevalence of Mendelian disorders in individuals clinically diagnosed with CP, including in individuals with known CP risk factors.

BackgroundRecent studies have sought to describe HIV infection and transmission characteristics around the world. Identification of early HIV-1 infection is essential to proper surveillance and description of regional transmission trends. In this study we compare people recently infected (RI) with HIV-1, as defined by Serologic Testing Algorithm for Recent HIV Seroconversion (STARHS), to those with chronic infection.Methodology/principal findingsSubjects were identified from 2002-2004 at four testing sites in São Paulo. Of 485 HIV-1-positive subjects, 57 (12%) were defined as RI. Of the participants, 165 (34.0%) were aware of their serostatus at the time of HIV-1 testing. This proportion was statistically larger (p59 years-old age strata (pConclusions/significanceIn this study, we evaluated RI individuals and discovered that HIV-1 has been spreading among younger individuals in São Paulo and preventive approaches should, therefore, target this age stratum.