RESUMO
Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, c.121G > T (p.Gly41Cys) in GJA4, which encodes a transmembrane protein that is a component of gap junctions and hemichannels in the vascular system, in OCVM tissues from 25/26 (96.2%) individuals with OCVM. GJA4 expression was detected in OCVM tissue including endothelial cells and the stroma, through immunohistochemistry. Within OCVM tissue, the mutation allele frequency was higher in endothelial cell-enriched fractions obtained using magnetic-activated cell sorting. Whole-cell voltage clamp analysis in Xenopus oocytes revealed that GJA4 c.121G > T (p.Gly41Cys) is a gain-of-function mutation that leads to the formation of a hyperactive hemichannel. Overexpression of the mutant protein in human umbilical vein endothelial cells led to a loss of cellular integrity, which was rescued by carbenoxolone, a non-specific gap junction/hemichannel inhibitor. Our data suggest that GJA4 c.121G > T (p.Gly41Cys) is a potential driver gene mutation for OCVM. We propose that hyperactive hemichannel plays a role in the development of this vascular phenotype.
Assuntos
Mutação com Ganho de Função , Malformações Vasculares , Humanos , Células Endoteliais , Junções Comunicantes/genética , Mutação , Veias , Malformações Vasculares/metabolismoRESUMO
BACKGROUND: Lymphatic venous anastomosis (LVA) is a widely accepted surgical procedure for lymphedema. To obtain the best outcomes, surgeons should be well trained. A recent study introduced an LVA training model using pig trotters for their utility and structural similarity to human tissues. However, details regarding the utilization of anastomosis models, such as feasible points for training based on vessel anatomy, have not been clarified. Therefore, we assessed the anatomical details of lymphatic vessels and veins of trotters to establish a practical training model of LVA. METHODS: Ten frozen trotters were used. After thawing at room temperature, indocyanine green fluorescent lymphography was used to visualize the lymphatic course. To dissect the lymphatic vessels and veins from the distal to the proximal end, whole skins were detached thoroughly from the plantar side. Data from the lymphatic vessels and veins were collected based on their courses, diameters, and layouts to clarify adjacent points feasible for LVA training. RESULTS: Both lymphatic vessels and veins were classified into four major courses: dorsal, medial, lateral, and plantar. The majority were dorsal vessels, both lymphatic vessels and veins. The adjacent points were always found in the distal dorsum center and were especially concentrated between the metacarpophalangeal (MP) joint and central interphalangeal crease, followed by the medial and lateral sides. CONCLUSION: The most relevant point for LVA surgical training in the trotter was the dorsal center distal to the MP joint, where parallel vessels of similar sizes were found in all cases. This practical LVA surgical model would improve surgeon skills in not only anastomosis but also preoperative fluorescent lymphography.
Assuntos
Vasos Linfáticos , Linfedema , Anastomose Cirúrgica , Animais , Verde de Indocianina , Vasos Linfáticos/diagnóstico por imagem , Vasos Linfáticos/cirurgia , Linfedema/cirurgia , Linfografia , Microcirurgia , SuínosRESUMO
Frontonasal dysplasia (FND) is a congenital malformation of the central portion of the face, including the eyes, nose, and forehead. Owing to its rarity and wide spectrum of phenotypes, the optimal timing and technique of surgery remain controversial. Here, we report a case of a patient with FND, who presented with respiratory distress. The deformed nostrils were so small that the patient could not normally breathe through the nose immediately after birth. Rhinoplasty using a costochondral graft was performed at 16 months of age. After surgery, the nostrils enlarged and the appearance of the nose improved. Although congenital nasal deformity is frequently corrected during adolescence, surgery at an early stage can be considered when important issues are noted, such as inability to breathe through the nose.
Assuntos
Cartilagem/transplante , Anormalidades Craniofaciais/cirurgia , Face/anormalidades , Nariz/cirurgia , Rinoplastia/métodos , Cartilagem/cirurgia , Face/cirurgia , Humanos , LactenteRESUMO
Nipple adenoma is an uncommon proliferative process of the breast and predominantly occurs in women aged 40-50. Its incidence is extremely low in men, and it has not been reported in a boy. Although nipple adenoma is rare and benign, being familiar with it is important because it clinically resembles Paget disease and histologically adenocarcinoma. We report a case of nipple adenoma in a boy.
Assuntos
Adenoma/patologia , Neoplasias da Mama Masculina/patologia , Mamilos/patologia , Adenoma/cirurgia , Neoplasias da Mama Masculina/cirurgia , Pré-Escolar , Diagnóstico Diferencial , Humanos , Masculino , Mamilos/cirurgiaRESUMO
Free flap reconstruction of the foot and ankle can be challenging in that it must fulfill functional and esthetic demands. Injury of this region is often associated with fractures, and muscle flaps are sometimes preferred. Here we present a case of the use of superficial circumflex iliac artery (SCIA) chimeric flap for reconstruction of ankle complex wound. A 78-year-old lady sustained open fractures of the left distal tibia, fibula, and talus, with a 10 × 6 cm2 soft-tissue defect over the lateral aspect of her left ankle due to an automobile accident. A 7 × 3 cm2 sartorius muscle component was inset to cover the exposed left ankle joint capsule, and a 5 × 10 cm2 SCIP skin paddle was used for coverage of the defect. The postoperative course was uneventful, and the sartorius muscle component and the SCIP skin paddle survived completely. Six months after the reconstruction, the flap and the donor site showed pleasing cosmesis, and the patient could ambulate with a supple ankle without crutches. The sartorius muscle component was elevated based on the deep branch of the SCIA, and was chimerically combined with a SCIP skin paddle for reconstruction of a complex ankle injury. © 2015 Wiley Periodicals, Inc. Microsurgery 37:421-425, 2017.
Assuntos
Traumatismos do Tornozelo/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos/cirurgia , Idoso , Feminino , Humanos , Artéria Ilíaca/cirurgia , Músculo Esquelético/cirurgia , Retalhos Cirúrgicos/irrigação sanguíneaRESUMO
Indocyanine green lymphography has recently been used to assess lymphatic vessel function in lymphedema patients. Postoperative collateral lymphatic vessels toward ipsilateral axillary lymph nodes are rarely seen above the umbilical level in lower lymphedema patients. Between January 2012 and December 2014, we performed indocyanine green lymphography of 192 limbs in 96 lower extremity lymphedema cases. As a result, dermal back flow appeared in 95 cases, with 38 in the lower abdominal area and 31 in the genital area. We confirmed 3 cases of superficial lymphatic collateral ways extending above the umbilical level to the axillary lymph nodes. All 3 cases had similarity in lower abdominal edema, so excessive lymphatic fluid in the lower abdomen was assumed to be the cause. Lymphatic collateral ways from abdomen to axillary lymph nodes in this study was likely to be designed to prevent the progress of lymphedema.
Assuntos
Extremidade Inferior/fisiopatologia , Excisão de Linfonodo , Linfangiogênese/fisiologia , Vasos Linfáticos/fisiopatologia , Linfedema/fisiopatologia , Neoplasias/cirurgia , Complicações Pós-Operatórias/fisiopatologia , Abdome , Adulto , Idoso , Idoso de 80 Anos ou mais , Axila , Feminino , Corantes Fluorescentes , Humanos , Verde de Indocianina , Extremidade Inferior/diagnóstico por imagem , Vasos Linfáticos/diagnóstico por imagem , Linfedema/diagnóstico por imagem , Linfedema/etiologia , Linfografia/métodos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico por imagemRESUMO
BACKGROUND: The pharyngeal flap (PF) is useful for reconstruction of soft palate defects, but effective arrangements of PF for various types of soft palate defects are controversial. Here, we classify three types of soft palate defects and discuss the arrangements of PF and their functional prognosis. METHODS: Reconstruction was performed based on the classification of the defects. Clinical details were collected, and postoperative function was analyzed. RESULTS: Eight patients were included in the study. The defect sizes ranged from 25 (width) × 40 (depth) to 40 × 60 mm. Six patients underwent pharyngeal flap reconstruction with free-flap reconstruction, and two underwent pharyngeal flap reconstruction. The pharyngeal flap was harvested at the maximum width of the posterior pharyngeal wall, ranging from 25 to 40 mm in length. Eating and speaking functions were maintained in all patients. CONCLUSIONS: Good postoperative function can be maintained by narrowing the velopharyngeal space with a pharyngeal flap.
Assuntos
Palato Mole , Faringe , Procedimentos de Cirurgia Plástica , Retalhos Cirúrgicos , Humanos , Palato Mole/cirurgia , Masculino , Pessoa de Meia-Idade , Feminino , Procedimentos de Cirurgia Plástica/métodos , Faringe/cirurgia , Idoso , Adulto , Neoplasias Palatinas/cirurgia , Retalhos de Tecido Biológico , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Central lymphatic diseases such as intractable chylothorax can be fatal. Lymphatic venous anastomosis at the venous angle level is expected to give a direct therapeutic effect because it opens the obstructed outlet of the main lymphatic vessels. However, the original methods resulted in some important issues, such as the potential for venous reflux. In the present case, we modified the original anastomosis method by interposing a vein graft with venous valves to increase the distance and prevent venous reflux. Collecting the lymphatic flow resulted in termination of the chylothorax with preserved postoperative patency for years, without any complications, including at the graft-harvested extremity.
RESUMO
The adeno-associated virus (AAV) is a potent vector for in vivo gene transduction and local therapeutic applications of AAVs, such as for skin ulcers, are expected. Localization of gene expression is important for the safety and efficiency of genetic therapies. We hypothesized that gene expression could be localized by designing biomaterials using poly(ethylene glycol) (PEG) as a carrier. Here we show one of the designed PEG carriers effectively localized gene expression on the ulcer surface and reduced off-target effects in the deep skin layer and the liver, as a representative organ to assess distant off-target effects, using a mouse skin ulcer model. The dissolution dynamics resulted in localization of the AAV gene transduction. The designed PEG carrier may be useful for in vivo gene therapies using AAVs, especially for localized expression.
Assuntos
Dependovirus , Polietilenoglicóis , Dependovirus/genética , Dependovirus/metabolismo , Vetores Genéticos/genética , Terapia Genética/métodos , Materiais BiocompatíveisRESUMO
Four-armed poly(ethylene glycol) (PEG)s are essential hydrophilic polymers extensively utilized to prepare PEG hydrogels, which are valuable tissue scaffolds. When hydrogels are used in vivo, they eventually dissociate due to cleavage of the backbone structure. When the cleavage occurs at the cross-linking point, the hydrogel elutes as an original polymer unit, i.e., four-armed PEG. Although four-armed PEGs have been utilized as subcutaneously implanted biomaterials, the diffusion, biodistribution, and clearance behavior of four-armed PEG from the skin are not fully understood. This paper investigates time-wise diffusion from the skin, biodistribution to distant organs, and clearance of fluorescence-labeled four-armed PEGs with molecular weight (Mw) ranging from 5-40 kg/mol subcutaneously injected into the back of mice. Changes over time indicated that the fate of subcutaneously injected PEGs is Mw-dependent. Four-armed PEGs with Mw ≤ 10 kg/mol gradually diffused to deep adipose tissue beneath the injection site and distributed dominantly to distant organs, such as the kidney. PEGs with Mw ≥ 20 kg/mol stagnated in the skin and deep adipose tissue and were mainly delivered to the heart, lung, and liver. The fundamental understanding of the Mw-dependent behavior of four-armed PEGs is beneficial for preparing biomaterials using PEGs, providing a reference in the field of tissue engineering.
Assuntos
Polietilenoglicóis , Polímeros , Camundongos , Animais , Polietilenoglicóis/química , Distribuição Tecidual , Peso Molecular , Hidrogéis/química , Materiais BiocompatíveisRESUMO
Even in NSTI patients with many comorbidities, it is possible to save both the life and the limb by thorough debridement and suitable reconstruction. SCIP-ICAP compound flap can be versatile for a massive defect of an upper extremity. A Case of a Supercharged Compound Flap for Necrotizing Soft Tissue Infection.
RESUMO
Head and neck reconstructive surgery involving tissue flaps is often complex requiring the development of an individualized anesthetic plan. The following case report describes the anesthetic management of an 87-year-old man considered at high risk for postoperative delirium due to advanced age and blindness undergoing general anesthesia for resection of squamous cell carcinoma of the right side of the nose and reconstructive surgery with a scalping forehead flap. Ultrasound-guided local anesthetic maxillary and supraorbital nerve blocks were successfully used perioperatively to reduce the need for alternative analgesics associated with higher risks of complications such as postoperative nausea, vomiting, and delirium.
Assuntos
Bloqueio Nervoso , Procedimentos Cirúrgicos Bucais , Procedimentos de Cirurgia Plástica , Idoso de 80 Anos ou mais , Anestésicos Locais , Testa/cirurgia , Humanos , Masculino , Dor Pós-Operatória , Ultrassonografia de IntervençãoRESUMO
Lymphatic malformation (LM) can occur in the head and neck regions and cause cosmetic problems in adults. Sclerotherapy and surgical resection have been frequently applied; however, both are far from being minimally invasive in terms of aesthetic satisfaction, including the aesthetic downtime. We performed a less-invasive treatment using the venous anastomosis technique, named the lymphatic malformation-venous anastomosis (LMVA), mainly in pediatric patients with intractable microcystic lesions, in whom general anesthesia was required because the pediatric patients could not remain still. Here, we report the case of a 35-year-old man with a cystic submandibular LM successfully treated with LMVA under local anesthesia. He presented with a gradually enlarging LM on the neck. For improving aesthetics, LMVA was planned under local anesthesia. Lymphography by injecting indocyanine green revealed no inflow or outflow connection to the malformation; thus, we created an outflow bypass using the sidewall of the LMVA technique. The patient was discharged on the following day of the operation without any postoperative complications. A volumetric analysis 6 months later showed a 43.5% reduction of the malformation, with the patient being completely satisfied with the result. To the best of our knowledge, there has been no previous report on performing LMVA under local anesthesia in an adult. LMVA can be a novel treatment of choice when other options are less feasible.
RESUMO
BACKGROUND: Lymphatic malformation is a congenital lymphatic disorder. Although a few lymphangiographic and lymphoscintigraphic studies of lymphatic malformation exist, its lymphatic flow has not been fully assessed, and a classification system has not yet been established. However, indocyanine green lymphography has been developed to safely provide a fine assessment of lymph flow in the treatment of lymphedema. In addition, indocyanine green lymphography has been shown to be helpful in detecting the lymphatic malformation inflow for the treatment of refractory microcystic type lymphatic malformation using the venous anastomosis technique. Therefore, the authors aimed to reveal the in vivo lymph flow around the lymphatic malformation using indocyanine green lymphography, and to design a classification system according to the observed patterns. METHODS: Indocyanine green lymphography was performed in 20 sequential pediatric patients with lymphatic malformation (aged 11 months to 10 years). Most of the cases were intractable, with microcystic or mixed-type lymphatic malformation. RESULTS: All patients successfully completed lymphography with clear observations. The flow patterns were classified into four types: type 1 had a strong detectable inflow; type 2 had multiple small observable inflows; type 3 had a superficial lymph flow over the lesion; and type 4 had a flow around the lymphatic malformation, without any connections to the lesion. CONCLUSION: The proposed classification system may aid in the further development of surgical treatments for lymphatic malformation.
Assuntos
Corantes Fluorescentes/administração & dosagem , Anormalidades Linfáticas/diagnóstico por imagem , Vasos Linfáticos/diagnóstico por imagem , Linfografia/métodos , Imagem Óptica/métodos , Anastomose Cirúrgica/métodos , Criança , Pré-Escolar , Feminino , Humanos , Verde de Indocianina/administração & dosagem , Lactente , Anormalidades Linfáticas/cirurgia , Vasos Linfáticos/anormalidades , Vasos Linfáticos/cirurgia , Masculino , Veias/cirurgiaRESUMO
Less-invasive surgeries, such as lymphaticovenular anastomosis (LVA), are the widely accepted intervention for lymphedema. This study aimed to assess the outcomes of flow-oriented LVA modification on lymphatic malformation (LM). METHODS: We included 19 patients diagnosed with LM mixed type or microcystic type, who came to our clinic from June 2015 to December 2017. Under general anesthesia, all patients were administered an indocyanine green lymphography injection subcutaneously. In the case of a strong inflow, the patient underwent afferent lymph vessel of LM to venous anastomosis (LMVA). Otherwise, the side wall of LMVA was performed to the cysts. Outcomes were classified into the following groups based on the size changes: treatment effect (TE) 4 = >80% reduction rate; TE 3 = 50%-80% reduction rate; TE 2 = 20%-50% reduction rate; and TE 1 = 0%-20% reduction rate. RESULTS: All cases underwent surgery, with no case having an increased size. The results were as follows: TE 4 = 4 (21%) patients; TE 3 = 6 (32%) patients; TE 2 = 5 (26%) patients; and TE 1 = 4 (21%) patients. No case required study termination due to disease progression. Minor complication occurred in 3 cases. One vesicle increased at the labial mucosa and one wound dehiscence that epithelized within 1 month. CONCLUSION: LMVA could be a novel, minimally invasive lymph flow-oriented surgical method for intractable LM.
RESUMO
BACKGROUND: Superficial circumflex iliac artery (SCIA) perforator flap is one of the demanding flaps. However, little is known about SCIA anatomy, which is crucial for successful SCIA perforator flap elevation, in children. We assessed the efficacy of our incision design to detect the superficial branch of the SCIA in vivo. METHODS: Eleven consecutive pediatric patients who required harvesting (eg, skin grafts or vascularized lymph node transfer) were assessed. All possible congenital vascular malformation cases were excluded. To reduce potential bias, all groin procedures were performed on the contralateral side of malformations. After inguinal area mapping, 1.5-cm skin incision was made. From the window opened by the skin incision, tiny perforation to the skin surface was detected for further dissection. Following the tiny branch, the main trunk of the superficial circumflex vascular bundle was dissected. The whole vascular bundle, artery, and major vein from the bundle were dissected and their sizes were measured. RESULTS: Of the 11 patients, 4 were boys; the age range was 5 months to 14 years (mean age: 3.2 years). Vessel bundle size was 0.7-1.5 (mean: 1.1 mm). In all cases, the bundle was detected within 5 min (1-5, mean: 2.5 min). No vascular damage was observed, and all arteries pulsated well, without requiring additional skin incision. The superficial branch of the SCIA was mainly detected right below the initial skin incision. CONCLUSIONS: Our skin incision design can effectively detect the SCIA in pediatric patients and may be used in adult patients.
RESUMO
The management of lymphatic malformations (LMs) is challenging, particularly for large and complex lesions involving anatomical structures in the adjacent tissue. While lymphovenous anastomosis (LVA) has been reported as an effective treatment for lymphedema, it has hardly been described as a treatment for LM. Virtual reality has the ability to visualize human structures in three dimensions and can be used for the preoperative planning of complex cases. Here, we describe the first case of the management of an LM by LVA preoperatively planned with virtual reality. A young woman presented with an LM previously treated by gross excision. Following persistent complaints of swelling, a minimally invasive microsurgical intervention was planned. The results of the single photon emission tomography with computed tomography (SPECT-CT) and lymphoscintigraphy were analyzed using a virtual reality program, and a 3D patient-specific model was constructed. Based on the combined findings of this 3D model and lymphography with a fluorescent marker, a precise skin incision could be determined and one lymph vessel was anastomosed to a nearby vein. The swelling of the thigh reduced and the discomfort disappeared. Although more reports are needed to confirm its efficacy, LVA planned with virtual reality constructed images appears to be a valuable treatment option for complex lesions, including LMs.
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BACKGROUND: Super-microsurgery has widely spread due to the improvement of high magnification microscopes. The cost of multiple microscopes is high. Furthermore, the microscope heads are too large to fit in multiple surgical fields for pediatric patients. We adapted a 2-dimensional magnification system for performing lymphatic venous anastomosis on pediatric lymphedema cases. METHODS: We attached a close-up lens filter to the suspended camera (CHZ-1,360-PTR camera, Carina system, Tokyo, Japan) in the operative field. This was done to achieve 26× magnification using a small camera head, making it possible to perform super-micro anastomoses. Anastomoses time, scar length, and lymph vessel diameters were measured, and the outcomes were statistically analyzed and compared with the contralateral side. RESULTS: Four pediatric lymphedema patients underwent the aforementioned technique, using the multisite microscopic approach. All anastomoses were completed within 20 minutes. The results were not significantly different from the conventional microscopic lymphatic venous anastomosis. CONCLUSION: This system is advantageous because (1) it has less costly initial investments; (2) it requires a small camera head, which provides available space for the multisite microscopic approach even for pediatric patients; and (3) it allows for a wider surgical working space.