Effects of Bipolar Radiofrequency on Collagen Synthesis from Patients with Brachial Ptosis.

Radiofrequency is frequently used for skin rejuvenation, localized fat elimination and cellulite treatment. It prompts the expression of thermal shock proteins that lead to dermal thickening as a result of collagen synthesis. The authors report a histological and clinical analysis of the arm subdermal changes before and after bipolar radiofrequency treatment plus liposuction to determine their benefits for arm contouring. Methods: Inclusion criteria included patients with stage 1, 2a, and 2b brachial ptosis (Duncan classification) and upper limb fat deposits who were considered candidates for third-generation ultrasound-assisted liposculpture plus radiofrequency-assisted lipolysis/skin tightening. Arm subdermal tissue samples (5 mm³) were analyzed before and after the intervention. We used 10% formaldehyde for tissue fixation and stained each sample with hematoxylin/eosin, Masson trichrome, and antibody markers against the cell cycle Ki-67 protein. Results: We analyzed a total of 12 biopsies from six patients who meet the inclusion/exclusion criteria. Histological findings with hematoxylin/eosin revealed hyperplastic and metaplastic changes with focal distribution within the papillary and reticular dermis. Masson trichrome staining showed an increase of the characteristic basophilia of thin type-I and type-III collagen fibers. In contrast, molecular analysis reported an increase in fibroblast activity mediated by the activation of the heat shock protein HSP47. Conclusion: Radiofrequency may be a great alternative to improve skin retraction in patients with mild to moderate brachial dermatochalasis through the activation of HSP47 heat shock protein and the production of type-I and type-III collagen.

Osteogenesis Imperfecta: A Case Series and Literature Review.

Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue characterized by the loss of bone density and mass, which increases the fragility of the bones, thus presenting multiple fractures throughout the years followed by bone deformity and articular instability. This condition has various clinical presentations. We present four cases of OI, one case with type I, two cases with type II, and one case with type III. The clinical diagnosis in most of the cases was clinical; only one of them was confirmed with genomic sequence. The treatment of these cases was based on medication, orthopedic surgery, and recovery and physical therapy. The evolution was torpid in these cases but with prolonged life expectancy despite the severity and type of OI. It is important to highlight that the patients did not have a neurocognitive compromise. Early diagnosis and multidisciplinary medical management are crucial in obtaining better outcomes for this disease, improving the quality of life, and avoiding complications.

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.

BACKGROUND: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These mutations may cause nonsense-mediated mRNA decay, defective secretion or the phenomenon of biologically inactive leptin, but typically lead to an absence of circulating leptin, resulting in a rare type of monogenic extreme obesity with intense hyperphagia, and serious metabolic abnormalities. METHODS: We present two severely obese sisters from Colombia, members of the same lineal consanguinity. Their serum leptin was measured by MicroELISA. DNA sequencing was performed on MiSeq equipment (Illumina) of a next-generation sequencing (NGS) panel involving genes related to severe obesity, including LEP. RESULTS: Direct sequencing of the coding region of LEP gene in the sisters revealed a novel homozygous missense mutation in exon 3 [NM_002303.3], C350G>T [p.C117F]. Detailed information and clinical measurements of these sisters were also collected. Their serum leptin levels were undetectable despite their markedly elevated fat mass. CONCLUSIONS: The mutation of LEP, absence of detectable leptin, and the severe obesity found in these sisters provide the first evidence of monogenic leptin deficiency reported in the continents of North and South America.