Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.

Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family. All exhibited perinatal fractures, and thus, a skeletal dysplasia was considered as possibly contributing to the phenotype. However, whole exome sequencing revealed a homozygous, loss-of-function pathogenic variant in LMOD3, which has recently been associated with nemaline myopathy and, in a subset of patients, perinatal fractures. This case demonstrates the importance of considering congenital neuromuscular disorders in the differential diagnosis of perinatal fractures.

Reduction of burn progression with topical delivery of (antitumor necrosis factor-α)-hyaluronic acid conjugates.

In this study, we explored whether topical application of antibodies targeting tumor necrosis factor-α (TNF-α) or interleukin-6 (IL-6) conjugated to hyaluronic acid (HA) could reduce the extension of necrosis by modulating inflammation locally in a partial-thickness rat burn model. Partial-thickness to deep partial-thickness burn injuries present significant challenges in healing, as these burns often progress following the initial thermal insult, resulting in necrotic expansion and increased likelihood of secondary complications. Necrotic expansion is driven by a microenvironment with elevated levels of pro-inflammatory mediators, and local neutralization of these using antibody conjugates could reduce burn progression. Trichrome-stained tissue sections indicated the least necrotic tissue in (anti-TNF-α)-HA-treated sites, while (anti-IL-6)-HA-treated sites displayed similar outcomes to saline controls. This was confirmed by vimentin immunostaining, which demonstrated that HA treatment alone reduced burn progression by nearly 30%, but (anti-TNF-α)-HA reduced it by approximately 70%. At all time points, (anti-TNF-α)-HA-treated sites showed reduced tissue levels of IL-1ß compared to controls, suggesting inhibition of a downstream mediator of inflammation. Decreased macrophage infiltration in (anti-TNF-α)-HA-treated sites compared to controls was elucidated by immunohistochemical staining of macrophages, suggesting a reduction in overall inflammation in all time points. These results suggest that local targeting of TNF-α may be an effective strategy for preventing progression of partial-thickness burns.

Finesse in Mastopexy and Augmentation Mastopexy.

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Describe surgical techniques associated with mastopexy and mastopexy augmentation. 2. Understand the evolution of mastopexy and augmentation mastopexy. 3. Address patient goals. 4. Achieve a favorable cosmetic outcome. SUMMARY: The surgical techniques associated with mastopexy and mastopexy augmentation have continued to evolve. Traditional mastopexy techniques have included periareolar, circumvertical, and inverted-T patterns; however, adjuncts to these have included the use of various surgical mesh materials, implants, and fat grafting. This evidence-based article reviews how the techniques of mastopexy and augmentation mastopexy have evolved to best address patient goals and provide a favorable cosmetic outcome.

Late Bleed after Deep Inferior Epigastric Perforator Flap Breast Reconstruction.

Late bleed following deep inferior epigastric perforator (DIEP) flap breast reconstruction is an uncommon event. In this case report, the authors describe a case of late bleed 7 months following the index operation. This occurred in the setting of strenuous exercise. No specific etiology was determined and the condition resolved without treatment.

Non-crosslinked porcine acellular dermal matrix in pediatric abdominal wall reconstruction: a case series.

INTRODUCTION: The use of biologic mesh where native tissue deficiencies limit reconstructive options has been well documented in the adult population, with increasing use to address the special requirements of complex abdominal wall reconstruction. There is, however, little documented evidence as to the safety and efficacy of these products in the pediatric population. METHODS: This retrospective case series details 5 pediatric cases of complicated abdominal hernia repair with Strattice®, a non-crosslinked porcine acellular dermal matrix. Outcomes measured include recurrence, infection, seroma formation, symptomatic bulging, and need for mesh removal. Defect size, mesh size, and history of prior abdominal operations and infection were also recorded. RESULTS: Patients received Strattice® with an average area of 132.2 (24-250)cm2 and primary closure was achieved over a mesh underlay in three (60%) patients, while the remaining required a bridging approach secondary to lateral defects. Complications included suture extrusion, requiring suture removal, hernia recurrence without bulge, noted incidentally, and seroma formation, requiring placement of drains. DISCUSSION/CONCLUSIONS: In conclusion, the use of porcine ADM in pediatric patients appears to be potentially safe and efficacious in the context of complex abdominal wall defects, including those with substantial contamination. Our small series builds on previous reports in this difficult patient population. Although additional study, with larger subject pools, would assist in solidifying the observations seen in this and other series, initial findings suggest that porcine ADM is a valuable tool in the treatment of these complex patients. LEVEL OF EVIDENCE: Case series: Treatment study, Level IV.

Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.

Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome. Here, we describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre Robin sequence (but without cleft palate) and hyperphalangy, and we compare his phenotype with the seven previously described patients with pathogenic variants in TGDS. Our patient is on the severe end of the phenotypic spectrum, presenting with respiratory complications and failure to thrive. Furthermore, our finding of a homozygous p.Ala100Ser pathogenic variant in our patient supports that it is a common mutation in Catel-Manzke syndrome.