Nuove strategie chirurgiche combinate per il trattamento del linfedema: lembi microchirurgici linfonodali associati a liposuzione selettiva degli arti

Contesto dello studio: Il linfedema è una patologia cronica del sistema linfatico con esiti invalidanti. Nuovi trattamenti chirurgici sperimentali sono stati proposti di recente. L’efficacia di tali trattamenti è ancora dibattuta e al riguardo, in letteratura, vi sono pochi studi, spesso retrospettivi e basati su piccole coorti di pazienti. Il nostro studio prospettico valuta l’efficacia di un nuovo protocollo microchirurgico combinato per il trattamento del linfedema. Pazienti e metodi: Tra gennaio 2017 e dicembre 2019, 173 pazienti con diagnosi di linfedema sono stati trattati nel nostro centro. 94 pazienti con linfedema di stadio IIb-III degli arti superiori o inferiori sono stati arruolati nello studio e trattati con lembo microchirurgico linfonodale gastroepiploico seguito da liposuzione selettiva degli arti. I pazienti sono stati seguiti prospetticamente con valutazioni cliniche e strumentali. Obiettivo primario dello studio è stata la valutazione della riduzione della circonferenza degli arti. Risultati: Tra i pazienti arruolati nello studio 83 erano affetti da linfedema degli arti inferiori e 11 erano affetti da linfedema degli arti superiori. Il follow-up medio è stato di 3±0,8 anni. Nel gruppo di pazienti con linfedema degli arti inferiori, i tassi medi di riduzione della circonferenza (CRR) erano rispettivamente di 60,4, 56,9, 29,6 e 55,4% sopra e sotto il ginocchio, sopra la caviglia e a livello del piede. Una differenza statisticamente significativa tra le misurazioni preoperatorie e postoperatorie è stata notata a tutti i livelli (p<0.05), con l’eccezione della misurazione effettuata al di sopra della caviglia (p=0.059). Per quanto riguarda il gruppo di pazienti con linfedema dell’arto superiore, la riduzione della circonferenza media era rispettivamente di 80,7, 60,7, 65,0 e 49,6% sopra e sotto il gomito, al polso e a metà mano. Una riduzione della circonferenza dell’arto affetto è stata riportata a tutti i livelli, ma non è stata notata alcuna differenza statistica tra i valori misurati nel preoperatorio e nel postoperatorio. Il numero di episodi di cellulite è diminuito in modo significativo dopo il trattamento chirurgico (p<0.05). Conclusioni: Questo studio presenta la più vasta casistica della letteratura di pazienti con linfedema trattati con lembi linfonodali microchirurgici e liposuzione. I nostri risultati supportano l'uso del protocollo chirurgico combinato nel linfedema di grado IIb-III, con importanti implicazioni nella la pratica clinica e nella validazione della chirurgia del linfedema.

Clinical significance of the buccal fat pad: how to determine the correct surgical indications based on preoperative analysis

Background: Despite the multitude of clinical and aesthetic uses, the correct surgical indications for buccal fat pad (BFP) removal have yet to be fully elucidated. Although the procedure is widely performed and promoted for aesthetic purpose, literature lacks of studies accounting for a proper evaluation of patients undergoing BFP removal. Methods: Between 2012 and 2016 patients seeking an improvement of the malar contour by reduction of the submalar prominence have been visited at the Department of Plastic Surgery of the Institution. A preoperative MRI was requested in order to correctly identify the volume of the BFP and the presence of a masseter muscle (MM) hypertrophy. Results: According to clinical examination and the results of the preoperative imaging, patients were offered different treatment options: patients with BFP hypertrophy underwent BFP removal through an itraoral approach; patients with MM hypertrophy received injection of 50 UI of botulinum toxin (BTX). No complications were observed in the postoperative period and all patients were satisfied with the results. Conclusions: According to the experience, midface contouring procedures should take account of both surgeons’ experience, patients’ expectations and anatomical evaluation. As such, there is no given approach suitable for all cases. Suggested visual criteria, clinical examination and imaging analysis are useful in establishing patient’s condition and determining the appropriate methods of treatment to enhance the facial profile

Acquired ptosis associated with oculomotor and contralateral facial nerve synkinesis: the first reported case

Evidence of oculomotor nerve (ON) synkinesis is a common occurrence following both acquired and congenital III nerve palsy. It is generally accepted that aberrant regeneration is the likely aetiology of synkinesis in acquired III nerve palsy, following intracranial aneurysm, trauma, compressive neoplasms, cavernous sinus thrombosis and basilar meningitis

The round-the-clock technique for correction of gynecomastia

Background Gynecomastia is a common condition that can cause severe emotional and physical distress in both young and older men. Patients in whom symptomatic recalcitrant gynecomastia persists for a long time are potential candidates for surgery. Methods From January 2014 to January 2016, 15 patients underwent correction of gynecomastia through a single 3-mm incision at our institution. Only patients with true gynecomastia underwent surgery with this new technique. Through the small incision, sharp dissection was performed in a clockwise and counterclockwise direction describing two half-circles. Health-related quality of life and aesthetic outcomes were evaluated using a modified version of the Breast Evaluation Questionnaire (BEQ). Results The patients’ average age was 23.5 years (range, 18–28 years), and their average body mass index was 23.2 kg/m2 (range, 19.2–25.3 kg/m2). One case was unilateral and 14 cases were bilateral. The weight of glandular tissue resected from each breast ranged from 80 to 170 g. No excess skin was excised. Bleeding was minimal. The mean operating time was 25 minutes (range, 21–40 minutes). No complications were recorded. All lesions were histologically benign. The patients’ average score was 3.5 (on a 5-point Likert scale) in all domains of the BEQ for themselves and their partners. Conclusions In this study, we demonstrated the safety and reliability of a new technique that allows mastectomy through an imperceptible 3-mm incision. We obtained high patient satisfaction scores using our surgical technique, and patients reported considerable improvement in their social, physical, and psychological well-being after surgery

Genetic diversity and signature of divergence in the genome of grapevine clones of Southern Italy varieties

Sexual reproduction has contributed to a significant degree of variability in cultivated grapevine populations. However, the additional influence of spontaneous somatic mutations has played a pivotal role in shaping the diverse landscape of grapevine agrobiodiversity. These naturally occurring selections, termed 'clones,' represent a vast reservoir of potentially valuable traits and alleles that hold promise for enhancing grape quality and bolstering plant resilience against environmental and biotic challenges. Despite their potential, many of these clones remain largely untapped.In light of this context, this study aims to delve into the population structure, genetic diversity, and distinctive genetic loci within a collection of 138 clones derived from six Campanian and Apulian grapevine varieties, known for their desirable attributes in viticulture and winemaking. Employing two reduced representation sequencing methods, we extracted Single-Nucleotide Polymorphism (SNP) markers. Population structure analysis and fixation index (FST) calculations were conducted both between populations and at individual loci. Notably, varieties originating from the same geographical region exhibited pronounced genetic similarity.The resulting SNP dataset facilitated the identification of approximately two hundred loci featuring divergent markers (FST ≥ 0.80) within annotated exons. Several of these loci exhibited associations with essential traits like phenotypic adaptability and environmental responsiveness, offering compelling opportunities for grapevine breeding initiatives. By shedding light on the genetic variability inherent in these treasured traditional grapevines, our study contributes to the broader understanding of their potential. Importantly, it underscores the urgency of preserving and characterizing these valuable genetic resources to safeguard their intra-varietal diversity and foster future advancements in grapevine cultivation

Lipoaspirate fluid proteome: A preliminary investigation by LC-MS top-down/bottom-up integrated platform of a high potential biofluid in regenerative medicine.

The lipoaspirate fluid (LAF) has recently emerged as a potentially valuable source in regenerative medicine. In particular, our group recently demonstrated that it is able to exert osteoinductive properties in vitro. This original observation stimulated the investigation of the proteomic component of LAF, by means of LC-ESI-LTQ-Orbitrap-MS top-down/bottom-up integrated approach, which represents the object of the present study. Top-down analyses required the optimization of sample pretreatment procedures to enable the correct investigation of the intact proteome. Bottom-up analyses have been directly applied to untreated samples after monodimensional SDS-PAGE separation. The analysis of the acid-soluble fraction of LAF by top-down approach allowed demonstrating the presence of albumin and haemoglobin fragments (i.e. VV- and LVV-hemorphin-7), thymosins β4 and β10 peptides, ubiquitin and acyl-CoA binding protein; adipogenesis regulatory factor, perilipin-1 fragments, and S100A6, along with their PTMs. Part of the bottom-up proteomic profile was reproducibly found in both tested samples. The bottom-up approach allowed demonstrating the presence of proteins, listed among the components of adipose tissue, and/or are comprised within the ASCs intracellular content and secreted proteome. Our data provide a first glance on the LAF molecular profile, which is consistent with its tissue environment. LAF appeared to contain bioactive proteins, peptides and paracrine factors, suggesting its potential translational exploitation

Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Background and aims: We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on the presence of the typical features of FH, such as physical sings of cholesterol accumulation and personal or family history of premature cardiovascular disease or hypercholesterolemia, comparing their prevalence in the adult and paediatric FH population, and to illustrate how additional information can lead to a more effective diagnosis of FH at a younger age.Methods: From the Italian LIPIGEN cohort, we selected 1188 (>= 18 years) and 708 (<18 years) genetically-confirmed heterozygous FH, with no missing personal FH features. The prevalence of personal and familial FH features was compared between the two groups. For a sub-group of the paediatric cohort (N = 374), data about premature coronary heart disease (CHD) in second-degree family members were also included in the evaluation.Results: The lower prevalence of typical FH features in children/adolescents vs adults was confirmed: the prevalence of tendon xanthoma was 2.1% vs 13.1%, and arcus cornealis was present in 1.6% vs 11.2% of the cohorts, respectively. No children presented clinical history of premature CHD or cerebral/peripheral vascular disease compared to 8.8% and 5.6% of adults, respectively. The prevalence of premature CHD in first-degree relatives was significantly higher in adults compared to children/adolescents (38.9% vs 19.7%). In the sub-cohort analysis, a premature CHD event in parents was reported in 63 out of 374 subjects (16.8%), but the percentage increased to 54.0% extending the evaluation also to second-degree relatives.Conclusions: In children, the typical FH features are clearly less informative than in adults. A more thorough data collection, adding information about second-degree relatives, could improve the diagnosis of FH at younger age

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major candidate genes for monogenic hypercholesterolemia (LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1). Results A total of 213 variants were detected in 1076 subjects. About 90% of them had a pathogenic or likely pathogenic variants. More than 94% of patients carried pathogenic variants in LDLR gene, 27 of which were novel. Pathogenic variants in APOB and PCSK9 were exceedingly rare. We found 4 true homozygotes and 5 putative compound heterozygotes for pathogenic variants in LDLR gene, as well as 5 double heterozygotes for LDLR/APOB pathogenic variants. Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. One patient was found to be heterozygous for the ApoE variant p.(Leu167del), known to confer an FH phenotype. Conclusions This study shows the molecular characteristics of the FH patients identified in Italy over the last two years. Full phenotypic characterization of these patients and cascade screening of family members is now in progress

Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

: Background Evidence suggests that LPA risk genotypes are a possible contributor to the clinical diagnosis of familial hypercholesterolemia (FH). This study aimed at determining the prevalence of LPA risk variants in adult individuals with FH enrolled in the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) study, with (FH/M+) or without (FH/M-) a causative genetic variant. Methods and Results An lp(a) [lipoprotein(a)] genetic score was calculated by summing the number risk-increasing alleles inherited at rs3798220 and rs10455872 variants. Overall, in the 4.6% of 1695 patients with clinically diagnosed FH, the phenotype was not explained by a monogenic or polygenic cause but by genotype associated with high lp(a) levels. Among 765 subjects with FH/M- and 930 subjects with FH/M+, 133 (17.4%) and 95 (10.2%) were characterized by 1 copy of either rs10455872 or rs3798220 or 2 copies of either rs10455872 or rs3798220 (lp(a) score ≥1). Subjects with FH/M- also had lower mean levels of pretreatment low-density lipoprotein cholesterol than individuals with FH/M+ (t test for difference in means between FH/M- and FH/M+ groups <0.0001); however, subjects with FH/M- and lp(a) score ≥1 had higher mean (SD) pretreatment low-density lipoprotein cholesterol levels (223.47 [50.40] mg/dL) compared with subjects with FH/M- and lp(a) score=0 (219.38 [54.54] mg/dL for), although not statistically significant. The adjustment of low-density lipoprotein cholesterol levels based on lp(a) concentration reduced from 68% to 42% the proportion of subjects with low-density lipoprotein cholesterol level ≥190 mg/dL (or from 68% to 50%, considering a more conservative formula). Conclusions Our study supports the importance of measuring lp(a) to perform the diagnosis of FH appropriately and to exclude that the observed phenotype is driven by elevated levels of lp(a) before performing the genetic test for FH