Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute compartment syndrome of the lower leg and foot is a not widely reported, but serious, potential complication that can develop after fractures, crush injuries, or high-velocity trauma of the lower extremity. Early recognition and treatment are critical in preventing morbidity and permanent complications. Although compartment syndrome of the lower leg and foot has been well-studied and documented in adults, its occurrence in the pediatric population is rare. We performed a systematic review of the published data and present the case of the youngest patient with isolated ACS of the foot. A high index of suspicion is warranted in pediatric patients with a traumatic injury to the lower extremity for compartment syndrome. Inconclusive radiographic findings owing to skeletal immaturity and the inability to verbalize symptoms place young children at high risk of undiagnosed compartment syndrome. Clinicians should have a very low threshold for fasciotomy to prevent long-term sequelae associated with undiagnosed compartment syndrome.
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PMID:Acute Traumatic Compartment Syndrome in Pediatric Foot: A Systematic Review and Case Report. 2706 1

Male infertility is a multifactorial condition. Unexplained male infertility is often caused by spermatogenesis dysfunction. Knockout of Pin1, an important regulator of cell proliferation and differentiation, produces male infertility phenotypes such as testicular immaturity and azoospermia with spermatogonia depletion and blood-testis barrier (BTB) dysfunction. Gene therapy has been clinically considered for the treatment of male infertility, but it is not preferred because of the risks of adverse effects in germ cells. Direct intracellular protein delivery using nanoparticles is considered an effective alternative to gene therapy; however, in vivo testicular protein delivery remains a pressing challenge. Here, we investigated the direct intracellular protein delivery strategy using a fibroin nanoparticle-encapsulated cationic lipid complex (Fibroplex) to restore intratesticular PIN1. Local intratesticular delivery of PIN1 via Fibroplex in Pin1 knockout testes produced fertile mice, achieving recovery from the infertile phenotypes. Mechanistically, PIN1-loaded Fibroplex was successfully delivered into testicular cells, including spermatogonial cells and Sertoli cells, and the sustained release of PIN1 restored the gene expression required for the proliferation of spermatogonial cells and BTB integrity in Pin1 knockout testes. Collectively, testicular PIN1 protein delivery using Fibroplex might be an effective strategy for treating male infertility.
ACS Nano 2020 10 27
PMID:Intratesticular Peptidyl Prolyl Isomerase 1 Protein Delivery Using Cationic Lipid-Coated Fibroin Nanoparticle Complexes Rescues Male Infertility in Mice. 3296 47