New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving regulatory elements.

Background: Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations. To date, pathogenic variants have been identified in three genes involved in the EDN1-DLX5/6 pathway (, and ) and some cases remain unsolved. Here we studied a large unsolved four-generation family.

Subfascial versus Subglandular Breast Augmentation: A Randomized Prospective Evaluation Considering a 5-Year Follow-Up.

Background: Subfascial breast augmentation is becoming popular because of a better understanding of breast anatomy. However, because the subglandular approach is also another popular method, it is critical to assess the influence of the superficial fascia of the pectoralis major muscle on the subfascial and subglandular pockets to determine if one method is superior to another. This study investigated whether there are clinical/radiological differences between subfascial and subglandular pockets following primary breast augmentation.

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of .

Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in which females are more severely affected than males. Severe male phenotypes are associated with mosaicism, supporting cellular interference for sex bias in this disease. Although many variants have been found in the coding region of , only 2 pathogenic variants have been identified in the same nucleotide in 5'UTR, disrupting the stop codon of an upstream open reading frame (uORF).

Relationship between Tamoxifen and the Absorption of Subfascial Autologous Fat Grafts.

Background: In the lipofilling procedures used in breast reconstruction, there is an unpredictability in the rate of reabsorption of the grafted fat. The objective of this study was to analyze the effect of tamoxifen, a medication commonly prescribed for patients with breast cancer, as a possible alternative to reduce the rate of autologous fat graft resorption.

Methods: The fatty cushion of the inguinal region of 20 female adult Wistar rats was removed and then autografted, using a standard volume of 0.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome.

Acute abdomen after abdominoplasty: differential diagnosis.

Unlabelled: Abdominoplasty is a very common elective procedure in plastic surgery. Surgical accidents can lead to serious complications that result in an acute surgical abdomen, but in rare cases, an acute surgical abdomen not related to the procedure develops. This report discusses the diagnostic approach for patients with an acute abdomen after abdominoplasty and presents a case of appendicitis in the immediate postoperative period.

Influence of leukotriene inhibitor montelukast on wound contraction and cutaneous healing process in rats.

Background: Wound contractures can cause severe deformities and disabilities. Recent studies have suggested that leukotriene receptor antagonists have an inhibitory effect on the healing contraction process. This study aimed to evaluate the influence of the leukotriene inhibitor montelukast on the cutaneous healing process and the wound contraction phenomenon in rats.