Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations.

Recent studies have shown that the PI3K signaling pathway plays an important role in the pathogenesis of slow-flow vascular malformations (SFVMs). Analysis of genetic mutations has advanced our understanding of the mechanisms involved in SFVM pathogenesis and may identify new therapeutic targets. We screened for somatic variants in a cohort of patients with SFVMs using targeted next-generation sequencing. Targeted next-generation sequencing of 29 candidate genes associated with vascular anomalies or with the PI3K signaling pathway was performed on affected tissues from patients with SFVMs. Fifty-nine patients with SFVMs (venous malformations n = 21, lymphatic malformations n = 27, lymphatic venous malformations n = 1, and Klippel-Trenaunay syndrome n = 10) were included in the study. TEK and PIK3CA were the most commonly mutated genes in the study. We detected eight TEK pathogenic variants in 10 samples (16.9%) and three PIK3CA pathogenic variants in 28 samples (47.5%). In total, 37 of 59 patients (62.7%) with SFVMs harbored pathogenic variants in these three genes involved in the PI3K signaling pathway. Inhibitors of this pathway may prove useful as molecular targeted therapies for SFVMs.

[A case of splenic injury after colonoscopy].

An 81-year-old woman lost consciousness and was taken to our hospital 3 days after colonoscopy was performed as a follow-up of endoscopic mucosal resection done 1 year ago for early sigmoid colon cancer detection. She had left hypochondrial pain. Based on abdominal contrast-enhanced computed tomography (CT) findings, she was diagnosed with abdominal bleeding due to injury to the lower splenic pole, and an urgent splenectomy was performed. In this case, there was no abdominal trauma to cause splenic injury. Injury to the lower splenic pole during colonoscopy was considered due to the adhesion found in the abdominal cavity. It is possible that the hemorrhage did not stop because she was taking antiplatelet drugs.

Progress report for intractable ulcer and osteomyelitis cases using autologous micrografts.

Intractable ulcers often occur following primary diseases and have a significant impact on the quality of life of affected subjects. The medical treatments now available include compression and continuous debridement or additional interventions such as advanced wound dressings, local or systemic antibiotics with a mild benefit for the patients in the long term. In this report, we describe the use of autologous micrografts obtained by Rigenera® procedure in the management of two cases of intractable ulcers showing good outcomes for both patients approximately after 30 days from intervention. In the first case, a 74-year-old male with a diagnosis of Fournier's gangrene who underwent several interventions showed a rapid wound epithelization after micrografts application. In the second case, a 63-year-old male affected by a left hallux ulcer with a diagnosis of chronic osteomyelitis also showed a gradual reduction in the ulcer approximately after 1 month from micrografts application.

Fascicular turnover flap in the reconstruction of facial nerve defects: an experimental study in rats.

The purpose of this study was to assess the utility of a fascicular turnover flap for facial nerve repair and to investigate its possible application in the field of facial nerve repair using a rat model of facial paralysis. Twenty-four Wistar rats were used in this study. A left vibrissal muscle palsy model was established via excision of the buccal and marginal branches through a periauricular incision. In Group 1, the nerve gap was not reconstructed. In Group 2, the nerve gap of the marginal mandibular branch was reconstructed using an autograft, and in Group 3, the gap was reconstructed using a fascicular turnover flap. At 12 weeks after the operation, the nerve regeneration was assessed based on clinical, histopathological and electrophysiological evaluations. The functional recovery of the vibrissal muscle was observed with a fascicular turnover flap. The functional recovery of whisker movement was almost same between Groups 2 and 3 (p = .57). The histopathological examinations almost same result between Groups 2 and 3 (p = .17). The compound muscle action potential after reconstruction was also almost same between Groups 2 and 3 (p = .99). We found that the fascicular turnover flap could be applied to facial nerve gap reconstruction. However, further evaluations will be necessary to clarify its indication and mechanism in human.

Patient with inguinal hernia containing the urinary bladder complicated by bladder stones.

INTRODUCTION: We encountered a patient in whom bladder inguinal hernia complicated by bladder stones was incidentally diagnosed. Bladder inguinal hernia containing stones in the prolapsed bladder is rare and only two cases have been reported. CASE PRESENTATION: The patient was an 82-year-old male in whom ascending colon cancer and inguinal hernia containing the urinary bladder were diagnosed based on abdominal computed tomography performed to examine anemia. The urinary bladder contained several small stones. Radical surgery for the hernia and lithotripsy of the urinary bladder were concomitantly performed with right colectomy. On stone analysis, the stones were found to be uric acid calculi. CONCLUSION: In the three patients with inguinal hernia containing the urinary bladder complicated by stones, including our patient, two-stage urination, organic lower urinary tract obstruction, and prolapse of the urinary bladder reaching the scrotum were noted in all patients.

Diagnosis and Treatment of Keloids and Hypertrophic Scars-Japan Scar Workshop Consensus Document 2018.

There has been a long-standing need for guidelines on the diagnosis and treatment of keloids and hypertrophic scars that are based on an understanding of the pathomechanisms that underlie these skin fibrotic diseases. This is particularly true for clinicians who deal with Asian and African patients because these ethnicities are highly prone to these diseases. By contrast, Caucasians are less likely to develop keloids and hypertrophic scars, and if they do, the scars tend not to be severe. This ethnic disparity also means that countries vary in terms of their differential diagnostic algorithms. The lack of clear treatment guidelines also means that primary care physicians are currently applying a hotchpotch of treatments, with uneven outcomes. To overcome these issues, the Japan Scar Workshop (JSW) has created a tool that allows clinicians to objectively diagnose and distinguish between keloids, hypertrophic scars, and mature scars. This tool is called the JSW Scar Scale (JSS) and it involves scoring the risk factors of the individual patients and the affected areas. The tool is simple and easy to use. As a result, even physicians who are not accustomed to keloids and hypertrophic scars can easily diagnose them and judge their severity. The JSW has also established a committee that, in cooperation with outside experts in various fields, has prepared a Consensus Document on keloid and hypertrophic scar treatment guidelines. These guidelines are simple and will allow even inexperienced clinicians to choose the most appropriate treatment strategy. The Consensus Document is provided in this article. It describes (1) the diagnostic algorithm for pathological scars and how to differentiate them from clinically similar benign and malignant tumors, (2) the general treatment algorithms for keloids and hypertrophic scars at different medical facilities, (3) the rationale behind each treatment for keloids and hypertrophic scars, and (4) the body site-specific treatment protocols for these scars. We believe that this Consensus Document will be helpful for physicians from all over the world who treat keloids and hypertrophic scars.

Evaluation of the effects of a polyglycolic acid-collagen tube in the regeneration of facial nerve defects in rats.

PURPOSE: The purpose of this study was to assess the utility of a polyglycolic acid-collagen tube and to investigate its possible application in the field of facial nerve reconstruction. METHODS: Wistar rats were used in this study. In the operation, a periauricular incision was made to expose the buccal and marginal branches of the facial nerve. Gaps of 10 mm were created by resection of a part of the nerve into the marginal branches and the buccal branch of the left facial nerve. The left marginal branch gap was bridged with a 10-mm polyglycolic acid-collagen tube or an autograft. At 12 weeks after the operation, nerve regeneration was assessed based on clinical, histopathological, and electrophysiological evaluations. RESULT: The functional recovery of the vibrissal muscle was observed with the polyglycolic acid-collagen tube. However, the functional recovery obtained with the use of the polyglycolic acid-collagen tube was inferior to that obtained with an autograft. CONCLUSION: We found that polyglycolic acid-collagen tubes could be applied in facial nerve gap reconstruction. However, further improvements will be necessary to achieve results that are equivalent to those obtained with autografts.

High incidence of other primary malignancies in patients with synchronous multiple gastric cancers "a multi-center retrospective cohort study".

This study evaluated the relationship between synchronous multiple gastric cancer and other primary malignancies. During 2002-2013, 1094 consecutive surgically treated gastric cancer patients were enrolled. Preoperatively, we performed total colonoscopy and whole-body computed tomography. When malignancies in other organs were suspected, detailed organ-specific examinations were performed. Synchronous multiple gastric cancer occurred in 102 patients (9.3%)which was frequently observed in patients with preoperative other primary malignancies (p < 0.001). Preoperative other primary malignancy was an independent risk factor for synchronous multiple gastric cancer (p = 0.001; hazard ratio: 2.145, 95% confidence interval: 1.354-3.399) and an independent prognostic factor of overall survival in patients undergoing gastrectomy with curative intent (p = 0.021; hazard ratio: 1.481, 95% confidence interval: 1.060-2.070). Thus, patients with preoperative other primary malignancies have a high risk of synchronous multiple gastric cancer. Careful preoperative examination is recommended to improve survival.

[Significance of Thoraco-laparoscopic Observation in Repairing Diaphragmatic Injury by the Penetrating Trauma].

A 53-year-old man with a penetrating trauma was admitted to our hospital. Thoracoabdominal computed tomography (CT) on admission showed left diaphragmatic injury and peritoneal fat in the left thoracic cavity. Under a diagnosis of the traumatic diaphragmatic injury, an emergency operation was performed, and the left diaphragm was repaired. No other injuries were found in the thoracic and abdominal organs by thoraco-laparoscopic observation. The postoperative course was uneventful, and the patient left hospital on the 14th day after surgery. In case of the diaphragm injury, it is important to confirm the probable injuries of other organs by thoraco-laparoscopic observation.

The Distal Stump of the Intramuscular Motor Branch of the Obturator Nerve Is Useful for the Reconstruction of Long-Standing Facial Paralysis Using a Double-Powered Free Gracilis Muscle Flap Transfer.

BACKGROUND: Double innervation of the transferred muscle with the contralateral facial nerve and the ipsilateral masseteric nerve has recently been reported by some authors. The aim of this study was to assess the utility of our procedure of double innervation of free gracilis muscle for reconstruction of long-standing facial palsy. PATIENTS AND METHODS: In our department, 6 cases of long-standing facial paralysis (4 cases of complete palsy and 2 of incomplete palsy) were reconstructed using a free gracilis muscle double innervated with the masseteric and contralateral facial nerves. The patient age ranged from 37 to 79 years (average 56.7 ±â€Š15.7). In our procedure, the intramuscular motor branch of the transferred muscle was identified and sutured to the ipsilateral masseteric nerve in an end-to-end fashion, and the obturator nerve of the transferred muscle was sutured to the cross-facial nerve graft, which was coapted with the contralateral facial nerve by end-to-end suturing. RESULTS: All patients were followed up for >18 months and recovered their smiling function. The voluntary movement of the transferred muscle with teeth clenching was observed at approximately 4.7 months, and this movement combined with contralateral mouth angle elevation was observed at approximately 9.5 months after the surgery. CONCLUSIONS: Our experience suggests that the distal stump of the intramuscular motor branch of the obturator nerve may be useful for facial reanimation via double-powered free gracilis muscle flap transfer.

Three-dimensional visualization of the human face using DICOM data and its application to facial contouring surgery using free anterolateral thigh flap transfer.

One of the main challenges faced by surgeons performing reconstructive surgery in cases of facial asymmetry due to hemifacial atrophy or tumor surgery is the restoration of the natural contour of the face. Soft-tissue augmentation using free-flap transfer is one of the most commonly used methods for facial reconstruction. The most important part of a successful reconstruction is the preoperative assessment of the volume, position, and shape of the flap to be transplanted. This study focuses on three cases of facial deformity due to hemifacial progressive atrophy or tumor excision. For the preoperative assessment, digital imaging and communications in medicine (DICOM) data obtained from computed tomography was used and applied to a three-dimensional (3D) picture software program (ZedView, LEXI, Tokyo, Japan). Using computer simulation, a mirror image of the unaffected side of the face was applied to the affected side, and 3D visualization was performed. Using this procedure, a postoperative image of the face and precise shape, position, and amount of the flap that was going to be transferred was simulated preoperatively. In all cases, the postoperative shape of the face was acceptable, and a natural shape of the face could be obtained. Preoperative 3D visualization using computer simulation was helpful for estimating the reconstructive procedure and postoperative shape of the face. Using free-flap transfer, this procedure facilitates the natural shape after reconstruction of the face in facial contouring surgery.

Comparative analysis of mamushi (Gloydius blomhoffii) bite patients indicates that creatinine kinase levels/white blood cell count trends reflect severity.

Aim: There has been no indicator that allows an early quantitative evaluation of the severity of a mamushi snake (Gloydius blomhoffii) bite. Because the number of severe mamushi bite cases is much fewer than non-severe cases, a formal case-control study is difficult. Therefore, we tried to generate a preliminary quantitative, real-time index for its severity by referring to published reports of severe mamushi bite cases. Methods: We enrolled patients who presented with a mamushi bite and visited our outpatient clinic. Severe cases were collected from published works. Creatinine kinase levels and white blood cell counts of non-severe and severe cases were compared and analyzed. Results: There was a lag time of 10 h before the creatinine kinase level began to rise. The speed of the increase was higher in severe cases than in non-severe cases, and severe cases were recognized as those showing speeds of above 250 IU/L/h. White blood cell counts increased earlier than creatinine kinase levels without any lag time. Severe cases were recognized as those with the counts of over 1,000 × (h) + 6,000 [/µL] before 5 h and 300 × (h) + 10,000 [/µL] after 5 h. Conclusion: We herein present the creatinine kinase level and white blood cell count trends and demonstrate preliminary cut-off equations. The trends for both parameters serve as quantitative indicators of the severity of a mamushi bite until a large scale case-control study is achieved.

Results of second-stage screening for skin cancers in Oita Prefecture, Japan.

We performed skin cancer screenings for 2 or 3 days annually from 2006 through 2013 in Oita Prefecture, Japan. Screening of approximately 3000 people in total allowed us to identify and treat several skin cancers, including five cases of malignant melanoma, four of squamous cell carcinoma, 16 of basal cell carcinoma, 11 of Bowen's disease, 17 of actinic keratosis, one of extramammary Paget's disease and one of metastatic breast carcinoma. The sensitivity and specificity for the category defined by an identified lesion associated with risk of cancer and requiring further examination (category C) were 92.7% and 95%, respectively. We cannot estimate the outcome of our skin cancer screenings in terms of cancer mortality because of the small number of subjects examined and the brief follow-up period. However, we did estimate the effectiveness of these screenings in terms of stages or sizes of cancerous lesions. The relative numbers of subjects with malignant melanoma at various clinical stages, identified during skin cancer screenings and during a routine visit to our hospital, were significantly different. We also compared, statistically, the sizes of lesions in Bowen's disease that were found during cancer screenings and during a direct visit to our hospital. The former lesions were smaller than the latter. Our data suggest the benefits of our skin cancer screenings and the importance of campaigns and education to encourage people to visit dermatologists for the detection of skin cancers at an early stage.

Postoperative complications in elderly patients with gastric cancer.

BACKGROUND: Elderly patients undergoing gastrectomy are expected to be at high risk of postoperative complications. This retrospective multicenter cohort study assessed complications and long-term outcomes after gastrectomy for gastric cancer (GC). METHODS: A total of 993 patients with GC who had undergone gastrectomy were included, comprising 186 elderly patients (age ≥ 80 y, E group) and 807 nonelderly patients (age ≤ 79 y, NE group). Preoperative comorbidities, operative results, postoperative complications, and clinical outcomes were compared between the groups. RESULTS: Clavien-Dindo grade ≥1 postoperative complications, pneumonia (P = 0.02), delirium (P < 0.001), and urinary tract infection (P < 0.001) were more common in the E group. Postoperative pneumonia was associated with mortality in this group (P < 0.001). Three patients (1.6%) died after surgery, each of whom had pneumonia. Severe postoperative complication was independently prognostic of overall (hazard ratio, 4.69; 95% confidence interval, 2.40-9.14; P < 0.001) and disease-specific (hazard ratio, 6.41; 95% confidence interval 2.92-14.1; P < 0.001) survival in the E group. CONCLUSIONS: In elderly patients with GC, clinical outcomes are strongly associated with severe postoperative complications. Preventing such complications may improve survival.

Effect of concurrent mental nerve reconstruction at the same time as mandibular reconstruction using a fibula osteoseptocutaneous flap.

The damage of inferior alveolar nerve causes some functional problem including numbness of lower lip and drooling. During segmental mandibulectomy, inferior alveolar nerve commonly resected, therefore, it is ideal to reconstruct the nerve to get better functional result. Sensory recovery was assessed after mandibular reconstruction using free fibula osteoseptocutaneous flap in thirteen cases. In six cases, the mental nerve reconstruction was performed simultaneously, and in seven cases, the mental nerve reconstruction was not performed. In the case that the mental nerve was reconstructed simultaneously, unilateral mental nerve reconstruction was performed in five cases, and bilateral mental nerve reconstruction was performed in one cases. More than one year after the reconstruction, sensory recovery was assessed and compared between the group that the mental nerve was reconstructed and the group that was not reconstructed. Our results showed almost a normal sensory recovery of the lips on the reconstructed side more than one year after the reconstruction in reconstructed group. In contrast, sensory recovery was poor in non-reconstructed group and non-reconstructed side. These results showed that mental nerve reconstruction at the same time as mandibular reconstruction affects the postoperative mandibular function. The sural nerve can be harvested from the same donor site of the free fibula osteoseptocutaneous flap and such mental nerve reconstruction with nerve grafting can be completed within an hour. Most cases of mandibular reconstruction using a free fibula osteoseptocutaneous flap transfer can therefore be candidates for mental nerve reconstruction at the time of mandibular reconstruction.