Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in SETX have been described in AOA2 patients. OBJECTIVE: To describe the clinical features of AOA2 and to identify the SETX mutations in 10 patients from four Italian families. METHODS: The patients underwent clinical examination, routine laboratory tests, nerve conduction studies, sural nerve biopsy, and brain MRI. All were screened for SETX mutations. RESULTS: All the patients had cerebellar features, including limb and truncal ataxia, and slurred speech. OMA was observed in two patients, extrapyramidal symptoms in two, and mental impairment in three. High serum AFP levels, motor and sensory axonal neuropathy, and marked cerebellar atrophy on MRI were detected in all the patients who underwent these examinations. Sural nerve biopsy revealed a severe depletion of large myelinated fibers in one patient, and both large and small myelinated fibers in another. Postmortem findings are also reported in one of the patients. Four different homozygous SETX mutations were found (a large-scale deletion, a missense change, a single-base deletion, and a splice-site mutation). CONCLUSIONS: The clinical phenotype of oculomotor apraxia type 2 is fairly homogeneous, showing only subtle intrafamilial variability. OMA is an inconstant finding. The identification of new mutations expands the array of SETX variants, and the finding of a missense change outside the helicase domain suggests the existence of at least one more functional region in the N-terminus of senataxin

Autosomal recessive cerebellar ataxias

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2–4/100,000), ataxia-telangiectasia (1–2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, α-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia

BREAST REDUCTION: A CASE SERIES ANALYSIS

Reduction mammoplasty is one of the most common procedures performed by plastic surgeons. Surgeons select the technique that best suits each patient based on the surgeon’s experience, specific patient characteristics and requirements. The purpose of this article is to report the complications that occurred in patients who underwent reduction mammoplasty at our institution, and to compare our data to the current literature. We studied the postoperative complications from 82 breast reductions (41 patients), which used superior pedicle (n = 6), inferior pedicle (n = 36), medial pedicle (n = 10) or Thorek (n = 30) techniques. The most common postoperative complications were hematoma (7%), seroma (2.5%), delayed wound healing (14%), partial nipple loss (4.8%), infection (10%) and asymmetry (12%). We observed complications in 64% of patients that underwent inferior pedicle breast reduction with an inverted T scar. One possible explanation for this complication rate is that inferior pedicle Wise-pattern mammoplasty is usually performed for breasts with sternal notch-tonipple distances greater than 32 cm, or for symptomatic macromastia, and greater amounts of resected tissue are known to be associated with higher complication rates. Nevertheless, this technique is associated with excellent patient satisfaction. Indeed, complications are quite frequent and may occur even in the most suitable candidates, but do not compromise the final result

Minimally invasive dorsal sympathicotomies for the treatment of hyperhidrosis: palmar microcirculatory assessment as an intraoperative-aid

Background: Endoscopic transthoracic sympathicotomy has proven to be an effective and durable surgical treatment for severe primary hyperhidrosis. Anyhow, in some cases, especially in overweight patients, a thick overlying subpleural fat may obscure the sympathetic chain, precluding access to the ganglia and partial or total completion of the procedure. The aim of this study was to assess the value of palmar laser Doppler flowmetry (LDF) as an intraoperative-aid during minimally invasive dorsal sympathicotomies (T3) for the treatment of primary palmar hyperhidrosis. Methods: The method was tested during 40 upper dorsal video-assisted minimally invasive sympathicotomies in 20 patients with bilateral palmar primary hyperhidrosis. Results: The mean baseline LDF values were 36.05 pU (SD = 21.85 pU). The mean immediate postoperative LDF values were 75.94 pU (SD = 37.89 pU). A statistically significant difference was observed between preoperative and immediate (about 5 s after the sympathicotomies) postoperative values (p = 0.00000009). Conclusions: According to our data, LDF allowed to obtain reliable and fast intraoperative evidence of a correct section of T3 ganglia. As such, we recommend LDF as a useful intraoperative tool when dealing with dorsal sympathicotomies for the treatment of palmar hyperhidrosis, both for the unexperienced surgeon and when the sympathetic chain is not clearly visualized. Level of Evidence: Level IV, therapeutic study

A journey through liposuction and liposculture: Review

Introduction: Nowadays, liposuction is the most frequently performed aesthetic surgery procedure in Western Countries. This technique has had rapid development since the 1970s, when it was experimented for the first time by A. and G. Fischer. It is currently widely used in clinical practice for many different situations in aesthetic, reconstructive and functional fields. Materials and methods: This review aims to describe the historical evolution of liposuction by analyzing the transformation of the method in function of the introduction of innovative ideas or instruments. We have also focused on reporting the major clinical applications of this surgical technique, applicable to almost the entire body surface. We finally analyzed the complications, both major and minor, associated with this surgical technique. Results: Liposuction is mainly used to correct deep and superficial fat accumulations and remodel the body contour. It has become an essential complementary technique to enhance the aesthetic result of many other aesthetic procedures such as reduction mammoplasty, abdominoplasty, brachioplasty, thigh lift and post bariatric body contouring. However, it can be largely used for the treatment of innumerable pathologies in reconstructive surgery such as lipomas, lipedema, lipodystrophies, pneudogynecomastia and gynecomastia, macromastia e gigantomastia, lymphedema and many others. The complication rate is very low, especially when compared with conventional excisional surgery and the major, complications are generally associated with improper performance of the technique and poor patient management before and after surgery. Conclusion: Liposuction is a safe, simple and effective method of body contouring. It has enormous potential for its application in ablative and reconstructive surgery, far from the most common aesthetic processes with a very low complication rate

The science behind autologous fat grafting

Introduction: Adipose grafting has undergone significant changes over time. Many different techniques have been followed by trying to improve the quality of the lipoaspirate and the survival of the fat graft after implantation. Material and methods: The purpose of this review is to analyse the historical evolution of the surgical harvesting and implant technique, describing the changes that have brought significant improvements, revolutionizing the aesthetic and functional results obtainable. Results: A standard fat grafting technique is commonly performed in three stages: harvesting of adipose tissue from a suitable donor site; processing of the lipoaspirate to eliminate cellular debris, acellular oil and excess of infiltrated solution, reinjection of the purified adipose tissue. The most widely used surgical technique was described by Coleman. He modified and corrected the methods and results of his predecessors and proposed an atraumatic protocol for the treatment of adipose tissue. He reported that the key to successful fat grafting lies in the technique. In addition, he noticed that adipose tissue was not only a good filler, but improved the quality of the skin. In fact, fat grafts demonstrated to have not only dermal filler properties but also regenerative potential owing to the presence of stem cells in fat tissue. Conclusion: Adipose tissue, actually, is the closest to the ideal filler because it is readily available; easily obtainable, with low donor-site morbidity; repeatable; inexpensive; versatile; and biocompatible. There is an abundance of literature supporting the efficacy of fat grafting in both aesthetic and reconstructive cases. Recent studies have shown the utility of adipose-derived stem cells in the improvement of wound healing, describing their ability to regenerate soft tissues and their remodelling capacity provided by their unique cytokine and growth factor profiles. Despite ongoing concerns about survival and longevity of fat grafts after implantation and unpredictability of long-term outcome, fat has been successfully used as a filler in many differ clinic situation

La liposuzione quale fonte di cellule staminali

none4LIPECTO MY AS A SOURCE OF STEM CELLS Over the last few years, interest in adipose tissue as the ideal source of mesenchymal stem cells (MSCs) has considerably grown. MSCs represent the future of regenerative medicine, both for their multipotent capabilities and for their ability to excretion of pro-regenerative cytokines. Mesenchymal stem cells derived from adipose tissue (ASC) have become important in regenerative medicine due their abundance in adipose tissue and ease of liposuction extraction. To obtain adipose tissue, several harvesting techniques exist. Liposuction is a safe and reliable aesthetic surgical technique to obtaining ASC in large quantities, but few studies have highlighted the effects of different liposuction techniques on ASC regeneration capacity and their ASC functionality. Several studies have been considered that have assessed whether the various liposuction approaches could have influenced the vitality of ASCs. We also reported our ASC withdrawal and isolation techniques, which allowed us to isolate a quantity of 9.06 ×105 ASC from 100 mL of adipose tissue, with ASC yield of 25.9% of the pellet. The use of mesenchymal stem cells (MSC) in clinical research and applications has continued in recent decades. By comparing the various liposuction techniques in literature, we concluded that standard aspiration-assisted liposuction remains the most effective and least traumatic ASC extraction method.noneGrieco, Michele P.; Simonacci, Francesco; Bertozzi, Nicolò; Raposio, EdoardoGrieco, Michele P.; Simonacci, Francesco; Bertozzi, Nicolò; Raposio, Edoard

Stem cells derived from adipose tissue: Possible uses and clinical applications

none4In the past adipose tissue was considered only as the energy storage of our body, today we can talk about adipose organ, an active and dynamic tissue from which multipotent stem cells can be obtained. The aim of our study was to focus on the properties and possible uses of stem cells derived from adipose tissue (ASCs) in regenerative medicine based on the major scientific studies reported in international literature. Referring to current scientific literature, we have described the main properties of ASCs by focus on the sources from which they can obtained, isolation procedures, clinical applications and the current legislation on their use. ASCs are multipotent stem cells with paracrine, immunomodulatory, chemotactic and differentiating activity that promote their use in various fields of regenerative medicine and tissue engineering. Currently there is no universally recognized protocol regarding the isolation procedure. Under current European legislation, ASCs can only be used if autologous, non-cultivated, mechanically isolated and transferred at the level of a homologous tissue. To date, clinical protocols that do not comply with these guidelines are considered off-lable. Today, there is a growing need for a protocol shared by the international scientific community on the stem cells isolation procedure from adipose tissue and on their clinical applications in compliance with current legislation.noneSImonacci, Francesco; Bertozzi, Nicolò; Grieco, Michele P.; Raposio, EdoardoSimonacci, Francesco; Bertozzi, Nicolò; Grieco, Michele P.; Raposio, Edoard

Nose defects reconstruction with the Zitelli bilobed flap

none4The skin Cancers of the head and neck district are localized mostly on the nose, which, by being in the center of the mid-face, has an important aesthetic role. Therefore, many reconstructive techniques have been studied; among them regional skin fiaps appeared the most suitable since they guaranteed the oncological radicality as well as a good aesthetic outcome. In this paper, we present our experience with the use of the Zitelli bilobed flap, which is defined as a double transposition flap for the reconstruction of the nose defects. From 2008 to 2012, we have treated 86 patients (56 men and 30 women, aged between 47 and 83 years) for skin Cancer of the nose (72% basal-cell Carcinoma, 28% squamous cell Carcinoma); for all patients, the nose defects' reconstruction was performed by means of the modified Zitelli bilobed flap. The results were evaluated by short- and long-term follow-up; no infections or major complication were reported, while high preservation of the patient's facial characteristics and normal functions of the nose were observed. In 12 cases, little distortions of the alar rim were recorded although these patients still evaluated the cosmetic outcome as good. In our experience, the Zitelli bilobed flap remains a robust and reliable tool for the reconstruction of the nose defects, since it preserves its function, while ensuring a good aesthetic result.noneGrieco, Michele P.; Bertozzi, Nicolò; Grignaffini, Eugenio; Raposio, EdoardoGrieco, Michele P.; Bertozzi, Nicolò; Grignaffini, Eugenio; Raposio, Edoard

Effects of Topic Simvastatin for the Treatment of Chronic Vascular Cutaneous Ulcers: A Pilot Study

none5Recent research suggests that statins might be useful in the process of wound healing, playing a positive immune-modulatory role, improving microvascular function and reducing oxidative stress. The aim of this pilot study was to evaluate the efficacy of topic application of Simvastatin-based cream in the treatment of chronic vascular cutaneous ulcers, comparing this type of treatment to a collagen-based dressing, proven to be effective for ulcer treatment. A total of 20 ulcers were studied in 2 Groups of randomly-chosen patients for a period of one month. In the first Group a 0.5% Simvastatin-based cream was topically administered, while the second Group (control) was treated with an absorbable type I bovine collagen-based medication. Each week, wound healing progress was observed in both Groups, and the ulcers photographed. Wound healing rate was calculated by considering the absolute change in area and by the formula “healing ratio (%) = [(Area0 − Areat4)/Area0] × 100,” both sets of data being related to the days comprised in the study in order to calculate healing rate per day. Statistical analysis was performed by Student t test. Study endpoint equaling the time-course changes of ulcer areas. At the end of the study, when considering absolute change in area, the experimental Group appeared to heal better and faster than the control Group although differences between the Groups were not statistically significant. Conversely, rates of wound healing in the experimental and control Groups were 46.88% and 64% respectively, revealing statistically significant differences. (P < 0.05). In conclusion, topic application of a simvastatin-based cream proved to be well- tolerated but not effective in the management of vascular leg ulcers in a 4 week-period.noneRAPOSIO, Edoardo; Libondi, Guido; Bertozzi, Nicolò; GRIGNAFFINI, Eugenio; GRIECO, Michele PioRaposio, Edoardo; Libondi, Guido; Bertozzi, Nicolò; Grignaffini, Eugenio; Grieco, Michele Pi