Search

Volar locking plate fixation for distal radius fractures (DRFs) is a technically demanding procedure with a risk of distal screw penetration through the dorsal cortex or the articular surface. This study aimed to investigate the incidence and details of distal screw penetration after volar locking plate fixation for intra-articular DRFs using a CT scan and to evaluate the relationship between the incidence of screw penetration and fracture comminution severity and the clinical complications of screw penetration. This was a retrospective case series of 91 adult patients (mean age, 63 years; 27 men) who underwent volar locking plate fixation for intra-articular DRFs from 2015 to 2018. The positioning of the distal screws was evaluated using a postoperative CT scan, and radiological outcomes were compared between the AO C1 and C3 groups. At the final follow-up, tendon rupture and arthritis severity were assessed as clinical complications of dorsal and intra-articular screw penetration. Distal screw penetration was observed in 44 wrists (48%), dorsal cortex screw penetration in 34, intra-articular screw penetration in 13, and both dorsal cortex and intra-articular screw penetration in three. The incidence of intra-articular screw penetration was significantly higher in the C3 group than in the C1 group. No tendon rupture was observed. Multivariable analysis revealed that intra-articular screw penetration was significantly related to high severity of arthritis. Approximately half of the study patients with intra-articular DRFs had distal screw penetration. The incidence of intra-articular screw penetration was associated with the severity of fracture comminution, and the intra-articular screw penetration was associated with the incidence of early radiocarpal arthritis. Intra-articularly penetrating screws should be replaced as soon as they are discovered, regardless of the length of penetrated screw or absence of patients' subjective symptoms. Therapeutic IV. [ABSTRACT FROM AUTHOR]

Background: Intra-articular fibromembranous septum in the radiocarpal joint can cause wrist contracture after distal radial fracture, but the mechanism underlying the formation of the septum is unknown. This study examined the clinical outcomes in patients treated with arthroscopic excision of the septum and the factors associated with formation of the septum in patients with and without a septum.Methods: Fifty-three patients (22 with septum and 31 without septum) treated for intra-articular distal radial fracture with arthroscopy using a volar locking plate and secondary removal of the plate were included. Clinical outcomes and radiological assessments were analyzed.Results: In patients with a septum, the range of wrist flexion and total wrist arc before the second operation were significantly more limited than in those without a septum (p < 0.01 and p = 0.03, respectively). The improvement rate (improvement in wrist arc divided by the wrist arc of the healthy side) after arthroscopic excision of the septum and plate removal was greater in patients with a septum than in those without a septum (6.1% vs. 2.0%, p = 0.08). The significant factors affecting formation of the septum were the residual articular gap and the height of the midradial ridge on computed tomography images.Conclusions: Intra-articular fibromembranous septum after surgically treated intra-articular distal radial fracture affects limited range of motion and secondary arthroscopic excision of the septum improves the wrist range of motion. Anatomical reduction and maintenance of the articular fragment, as well as anatomical characteristics might be causes of septum formation. [ABSTRACT FROM AUTHOR]

• Gallbladder involvement by lymphoma is extremely rare, and only 68 cases have been reported in the English literature so far. • We experienced a case of diffuse large B-cell lymphoma (DLBCL) of the gallbladder arising 8 years after DLBCL of the right testis. • We compiled and analysed reported cases in terms of background, symptoms, imaging findings, and prognosis. • DLBCL was significantly more involved in other organs simultaneously or heterochronously in contrast of MALT lymphoma (p = 0.004). • Gallbladder lymphoma should be added to the differential diagnosis of gallbladder tumours. Gallbladder involvement in lymphoma is extremely rare, and only 68 cases have been reported in the English literature so far. We experienced a case of diffuse large B-cell lymphoma (DLBCL) of the gallbladder arising 8 years after DLBCL of the right testis. A 68-year-old man underwent orchiectomy for malignant lymphoma of the right testis pathologically diagnosed as DLBCL 8 years ago. Systemic surveillance incidentally revealed a gallbladder tumour, and elective resection of the gallbladder bed of the liver was performed under a preoperative diagnosis of gallbladder cancer. The histopathological examination revealed DLBCL. At re-evaluation 3 months after surgery, he was diagnosed as having DLBCL involving the stomach. There had been no recurrence for 39 months after chemotherapy and radiation, but he suffered from a poor general condition due to protein-losing enteropathy and died of infection. We compiled and analysed reported cases of malignant lymphomas involving the gallbladder in terms of background, symptoms, imaging findings, and prognosis. Compared to MALT lymphoma, DLBCL was significantly more involved in other organs simultaneously or heterochronously (p = 0.004). Gallbladder lymphoma should be added to the differential diagnosis of gallbladder tumours, especially when clinical findings are not consistent with the typical course of gallbladder carcinoma and cholecystitis. [ABSTRACT FROM AUTHOR]

Replantation of multidigit amputations is difficult to perform due to severe damage to the digits, prolonged operative time, and ischemia. This study aimed to report the clinical results of multidigit replantation. A retrospective case series of 34 digits belonging to 12 consecutive patients who underwent multidigit replantation was conducted. Patients with injury in at least one or more amputated fingers proximal to the insertion of the flexor digitorum superficialis tendon were included. The mean follow-up duration was 18.1 months. The number of amputated digits, mechanism and zone of injury, survival rate, and clinical outcomes, including the range of motion, grip strength, and sensory recovery, at the final follow-up were reviewed and analyzed. The mean number of amputated digits per patient was 2.8. Complete survival was achieved in 27 of 31 digits (87.1%). The mean final percentage of total active motion of injured digits was 47.0%, and the mean percentage of grip strength was 45.9% of the contralateral uninjured side. The comparison between patients with two and three amputated digits showed that there was no significant difference in both survival rates and functional outcomes. The results showed that both the survival rates and functional outcomes of multidigit replantation were as good as those of single-digit replantation, and there was no significant difference for outcomes between patients with two and three amputated digits. These results suggested that all multidigit replantations should be performed regardless of the number of injured digits or amputation zones. [ABSTRACT FROM AUTHOR]

Highlights • In case of cholangiocarcinoma invading hilar vessels, adequate simulations and expert skills are required to achieve R0 resection. Abstract Introduction The present case report demonstrated the successfully radical operation (R0) for the highly advanced cholangiocarcinoma involving hilar hepatic arteries and portal vein, The careful preoperative diagnosis to define the adequate resection area and the expert operation was achieved without postoperative severe complications. Presentation of case A 55-year-old male was admitted to our hospital with obstructive jaundice, and the perihilar cholangiocarcinoma (PC) was found. At the time of finding PC, enhanced computed tomography showed the widely extension and involved the surrounding right hepatic artery (RHA) and bilateral portal veins (PV). According to extension of PC, left trisectionectomy combined resection of RHA and PV trunk was scheduled. By supporting plastic surgeon's procedure, the scheduled R0 operation could be achieved and the patient was discharged without any severe complication but delayed intrahepatic abscess formation. After abscess drainage, he could immediately recovered and tumor relapse was not observed for a couple of months. By carefully preoperative examination, a complicated operation was successfully completed. Discussion The major hepatectomy with arterio-portal resections and anastomosis for advanced has been challenged at the high-volume center and the improvement of survival seemed to be obtained and, however, operative risk is still remained. This operation could be achieved by the expert surgeons under precise planning or management. Conclusion The role of HBP surgeons is to challenge aggressive surgery even for patients with highly advanced local extension of PC. [ABSTRACT FROM AUTHOR]

Highlights • Patients undergoing poly surgery have been increased due to improvement of postoperative managements. • We experienced a patient with widely spreading cholangiocarcinoma who had previously undergone polysurgery. • Even though the complicated prior surgery in the abdomen, the R0 operation can be safely completed by expert surgeons. Abstract Introduction: This case report describes a successful radical operation for a patient with extensive advanced cholangiocarcinoma who had previously undergone intra-abdominal poly-surgery for advanced gall bladder carcinoma. Careful diagnosis to define the adequate division of the right hepatic duct was performed, and the operation was completed without postoperative complications. Case presentation: A 61-year-old woman was admitted to a hospital for obstructive jaundice, and extra-hepatic cholangiocarcinoma was found. Seven years prior, she underwent poly-surgery, which included cholecystectomy, gastrectomy, and colectomy, for advanced gall bladder carcinoma. Although she did not receive adjuvant chemotherapy, she had no tumor relapse. She was recommended chemo-radiation therapy to treat the cholangiocarcinoma; however, she visited our hospital to inquire the possibility of receiving radical operation. Enhanced computed tomography showed extensive cholangiocarcinoma without distant metastases, which was confirmed by endoscopic biopsy. Since the transected bile duct was without cancer-invasion, which was confirmed by a negative biopsy result, we were able to perform radical left hepatectomy and pancreaticoduodenectomy (HPD). The patient was discharged without any complications. Careful preoperative examination allowed for a complex operation to be successfully completed. Discussion: Complex surgery for advanced hepato-biliary-pancreatic malignancies after poly-surgery is difficult and requires expertise and intensive postoperative care. Conclusion: HPB surgeons should adopt an aggressive policy to treat patients who have undergone previous major abdominal surgery. [ABSTRACT FROM AUTHOR]

Introduction This case report aims to inform pancreatic surgeons about our perioperative management of intrahepatic portal vein thrombosis caused by an obstruction of hepaticojejunostomy (HJ) after pancreaticoduodenectomy (PD). Case presentation A 65-year-old woman was diagnosed with pancreas head carcinoma involving the superior mesenteric vein (SMV). Pancreaticoduodenectomy combined with SMV resection was followed by HJ. Twisting or narrowing was not evident during anastomosis. Total bilirubin values progressively increased to 13 mg/dL on day 5. At that time, we suspected anastomotic occlusion and found complete portal thrombosis of the left liver. Therefore, emergency re-anastomosis of the HJ was followed by thrombectomy, which was not completely successful and did not completely recover initial portal flow. Thrombolytic drugs improved obstructive jaundice, eradicated the organized thrombosis and recovered the portal flow by day 30. The post-operative course was uneventful. Discussion A thrombosis immediately formed in the portal vein due to biliary obstruction of an anastomotic site. We speculated that biliary dilation and related inflammation caused a relative increase in arterial flow and decreased portal flow at the localized part of the umbilical portion. Although early surgical thrombectomy was attempted soon after the primary operation, the organized thrombosis persisted. However, thrombolytic therapy eradicated the thrombosis. Conclusion Careful anastomosis of HJ during PD was necessary to avoid postoperative biliary stricture. This type of complication affects intrahepatic blood flow, particularly via the portal vein. Although immediate re-anastomosis or thrombectomy is applied, organized thrombosis cannot always be surgically removed. [ABSTRACT FROM AUTHOR]

Introduction This is a case report on the advances in preoperative endoscopic-guided fine-needle-aspiration (FNA) diagnosis for pancreatic carcinoma to achieve a curative operation even in patients who have a history of total gastrectomy. Case presentation A 65-year-old man, who underwent total gastrectomy for gastric cancer 13 years ago, had discomfort in the left lateral abdomen. A 3-cm hypovascular mass accompanying a large distal pseudocyst in the pancreatic tail was observed on computed tomography. Endoscopic ultrasonography via elevation of the jejunal loop on esophago-jejunostomy also revealed similar lesions, and FNA for the proximal-side hypoechoic mass was successful. The cytological diagnosis with immunohistochemistry was acinar cell carcinoma of the pancreas. Distal pancreatectomy with splenectomy was successfully performed. Histology of the resected specimen also showed the acinar cell carcinoma, similar with preoperative cytology, which involved the splenic vein and had extra-pancreatic extension but no lymph node metastasis. The tumor stage was IIA by the 2009 UICC classification. He had no tumor relapse on imaging follow-up until 12 months after the operation. Discussion There have been marked technical advancements in endoscopic ultrasonography-guided diagnosis, including FNA, even in patients with prior digestive tract surgery. However, the risk of complication is still a concern. Accurate histological diagnosis is useful in the field of pancreatic surgery, especially in cases of rare or small malignant lesions. Conclusion Curative pancreatectomy was possible in a case of acinar cell carcinoma, a rare pancreatic malignancy, which was diagnosed by preoperative endoscopic FNA diagnosis via esophago-jejunostomy after previous total gastrectomy. [ABSTRACT FROM AUTHOR]

Summary Condensins load onto DNA to organize chromosomes. Smc-ScpAB clearly loads onto the parS sites bound by Spo0J, but other loading site(s) must operate independently of parS . In this study, we asked where and how Smc-ScpAB normally selects its loading site. Our results suggest that rDNA is also a loading site. A pull-down assay revealed that Smc-ScpAB preferentially loads onto rDNA in the wild-type cell and even in a Δ spo0J mutant but not in a Δ smc mutant. Moreover, we showed that deletion mutants of rDNAs cause a defect in nucleoid separation, and at least two rDNAs near oriC are essential for separation. Full-length rDNA, including promoters, is required for loading and nucleoid separation. A synthetic defect by deletions of both rDNA and spo0J resulted in more aberrant nucleoid separation. We propose that a single-stranded segment of DNA that is exposed at highly transcribed rRNA operons would become a target for Smc-ScpAB loading. [ABSTRACT FROM AUTHOR]

Background: The efficacy of autologous bone grafting in repairing nonunion fractures, large bone defects and spinal instability is widely accepted. However, the cellular and molecular mechanisms underlying new bone formation in bone grafting have yet to be fully elucidated. The purpose of this study was to clarify the fate, origin and the contribution of the cells within the grafted bone. Methods: This study was designed to investigate the role and fate of cells contained in the grafted bone and their contribution to new bone formation in the graft in an animal model. Middiaphyseal cylindrical bone samples obtained from green fluorescent protein (GFP) transgenic and wild-type rats were transplanted into the back muscle of wild-type and GFP rats, respectively. The transplanted bones were evaluated by immunohistochemistry, in situ hybridization and quantitative reverse transcription polymerase chain reaction. Results: Immunohistochemical analyses showed that all the cells in the newly formed bone originated from the grafted bone, and osteoblasts were gradually replaced by host cells. Conversely, osteoclasts were immediately replaced by host cells 2 weeks after the bone graft. In addition, expression of bone morphogenetic protein (Bmp)- 4, Bmp receptors and Noggin in the grafted bone was significantly upregulated before new bone formation occurred, indicating that the grafted cells might contribute to the recruitment of mesenchymal cells into the graft bed. Conclusion: This study revealed the possible molecular mechanisms of the contribution of cells contained in grafted bone to facilitate new bone formation. [ABSTRACT FROM AUTHOR]

Acinar cell carcinoma (ACC) of the pancreas is a rare pancreatic cancer subtype (incidence, 0.5–2%) with unclear epidemiology and prognosis. Sometimes, repeat resection including total pancreatectomy is required for recurrence. We report a case of ACC recurring in the remnant pancreatic head after distal pancreatectomy that was successfully cured by remnant pancreatic resection following combination therapy with nab-paclitaxel (nab-PTX) and gemcitabine (GEM). A 64-year-old woman was referred for pancreatic tumour treatment. CT revealed a 46-mm tumour in the pancreatic body, and endoscopic ultrasonography-guided fine needle aspiration (EUS-FNA) indicated ACC. Distal pancreatectomy was performed, and the final diagnosis was ACC. CT 18 months later showed a 34-mm tumour in the remnant pancreatic head revealed as ACC by EUS-FNA. Portal vein invasion was apparent, so neoadjuvant chemotherapy with nab-PTX and GEM was administered, and remnant pancreatic resection (total pancreatectomy) was performed. No recurrence or distant metastasis was present more than 6 months later. Mean survival time for ACC is 18–47 months, and prognosis is good compared with pancreatic ductal adenocarcinoma (PDAC). ACC tends to extend and grow along the main pancreatic duct, which increases the recurrence rate to 50–60%. EUS and EUS-FNA were useful for evaluating tumour extension and diagnosis. Repeat pancreatic resection that included total pancreatectomy was feasible and could be performed safely. ACC has a better prognosis than PDAC but with a higher recurrence rate. Aggressive surgical resection that included remnant total pancreatotomy with chemotherapy was useful in treating ACC. • Acinar cell carcinoma (ACC) of the pancreas is a rare type of pancreatic tumour. • ACC has good prognosis compared with pancreatic ductal adenocarcinoma, but the recurrence rate is high. • Surgical resection that includes remnant pancreatic resection is useful for pancreatic tumours. • Neoadjuvant and adjuvant chemotherapy are useful in treating ACC. [ABSTRACT FROM AUTHOR]

Background: Currently, regenerative repair of large bone defects that result from bone tumor resection or severe trauma is a challenging issue because of the limited regenerative potential of bone and treatment modalities. The aim of this study was to achieve repair of large bone defects to the original three-dimensional (3D) anatomical state by combining computer-aided technologies and local delivery of bone morphogenetic protein (BMP) in a canine model. Methods: Computed tomography (CT) images of the pelvic bone of each dog were obtained, and an imaginary spherical malignant bone tumor of 15-mm diameter was placed in the left ilium of a canine on the 3D CT image. Resection of the whole tumor with a 10-mm margin of healthy bone was planned preoperatively by using computer-aided design (CAD) software. In addition, an image of the implant to be used to fill the resulting bone defect was constructed on the computer image. A porous hydroxyapatite (HA) implant identical to the imaged bone defect was made by shaving a tetragonal porous apatite block (40 × 20 × 10 mm) with a computer-aided manufacturing system operated by using the CT-image data of the bone defect obtained from the CAD system. To resect the iliac bone as planned preoperatively on the 3D CT image, computer-aided surgery was performed using the CT data. The defect was filled with the HA implant fabricated as described and coated with a putty carrier either with BMP-2 (BMP group, n = 6) or without BMP-2 (control group, n = 6). Results: In the BMP group, new bone formation was noted around each implant on CT images at 3 weeks after surgery and was remodeled to restore the original anatomy of the ilium on serial CT images. At 12 weeks, the implant was enclosed within new bone, and histological analysis revealed bone formation on and within the implant. Little bone formation was noted in the control group. Conclusions: This new method may enable efficacious and precise regenerative repair of large bone defects without bone grafting. [ABSTRACT FROM AUTHOR]

Background: Massive frozen stocked allogeneic bone grafts are often used to reconstruct large bone defects caused by trauma or tumor resections. However, the long-term failure rate of such massive allografts was reported to be 25% because of infection, fracture, and nonunion. In this study, we evaluated the ability of a recombinant human bone morphogenetic protein (rhBMP)-2-retaining paste to promote the osteogenic potential of frozen stocked allogeneic bone grafts to repair intercalated femoral shaft defects in a rat model. Methods: After confirming the transplantation intolerance between two rat strains (Wistar and Lewis) by skin transplantation from Lewis rats to Wistar rats, an 8-mm-long bone segment was removed from the Wistar rats, and a frozen stocked allograft coated with the rhBMP-2-retaining paste from the Lewis rats was placed into the defect and subjected to intramedullary fixation with an 18-gauge injection needle pin. The allografted femurs were evaluated by radiographic, histologic, and biomechanical examinations at specified time points. Results: The results revealed successful repair of critical-size cortical bone defects by implanting frozen stocked allografts coated with the rhBMP-2-retaining synthetic biodegradable carrier paste from an immunologically intolerant host. Conclusions: This experimental study suggest that allogeneic bone grafting in combination with rhBMP-2 and its local delivery system may represent an innovative approach to the reconstruction of bone defects. [ABSTRACT FROM AUTHOR]

Nodular fasciitis, a benign soft tissue tumor, occurs most frequently in the forearm and is generally divided into subcutaneous, intramuscular, and fascial types. Intraneural nodular fasciitis has been reported in only 5 patients previously. We present the case of a 79-year-old woman with nodular fasciitis within the median nerve at the proximal forearm. Carpal tunnel syndrome was suspected at the initial visit, but high median nerve palsy and a mass at the proximal forearm were found a few months later. Subtotal resection of the tumor within the median nerve was performed and histological diagnosis indicated nodular fasciitis. There was no evidence of recurrence at follow-up 1 year and 3 months after surgery. Motor weakness had resolved but sensation was compromised. [ABSTRACT FROM AUTHOR]

Duodenal adenocarcinoma is a rare malignancy; recently, it has been found to be accompanied by operative indications. Nine consecutive rare cases were diagnosed with duodenal carcinoma (DC), in which clinicopathological characteristics were retrospectively examined. Age was ranged over middle-aged males and females. No clinical onset with severe symptoms was observed, and the specific treatment for accompanied diseases or habits was not found. One case of two T1 stage DCs that underwent pancreas-sparing duodenectomy. Stage II DC was diagnosed in three cases, and stage III DC was diagnosed in four cases. Pancreaticoduodenectomy (PD) mainly occurred in seven patients, and duodenectomy was limited in two patients. All operations were safely performed, and the postoperative course showed no severe morbidity. Histological findings showed R0 resection in eight cases and R1 at the retroperitoneal dissecting part in one case. Five patients with advanced-stage DC underwent adjuvant chemotherapy; however, four patients showed tumor recurrence within 12 months. With additional strong chemotherapy, eight patients survived up to 84 months, and one died of liver metastasis at 43 months after surgery. Three representative cases of mucosal invasion with widespread pancreas-sparing duodenectomy and advanced-stage DC cases undergoing duodenectomy or PD are shown. In the field of upper digestive tract surgery, duodenal adenocarcinoma and various applications of surgery or adjuvant chemotherapy for long-term survival are important. • Duodenal cancer used to be rare disease and, however, we have increasingly experienced surgical intervention for duodenal cancers because it might be due to development of duodenal endoscopic examination. • For early cancers, duodenal resection preserved surrounding organs such as a pancreas can be indicated, otherwise pancreaticoduodenectomy is necessary for advanced stage duodenal cancer located up to 3rd portion of duodenum. • Patient prognosis can be expected by the novel adjuvant chemotherapy after curative duodenectomy. [ABSTRACT FROM AUTHOR]

Ocular metastasis in patients with esophageal cancer is quite rare. Several cases have been reported in the literature, but no successful treatments for such metastases have ever been described. We herein report a case of esophageal cancer in which the ocular metastasis was controlled by systemic chemotherapy. [Copyright &y& Elsevier]

Isolated coronal shear fracture of the trochlea is a rare injury. Isolated fractures of the humeral trochlea have all been reported in adults. We present the case of a 7-year-old boy with pain and swelling of the elbow joint. Magnetic resonance imaging and arthrogram revealed an isolated osteochondral fracture of the trochlea in the coronal plane. Ossification of the trochlea had not yet occurred. An anterior approach was used for reduction and fixation of the fragment. A good clinical outcome was achieved with no signs of bony or chondral necrosis of the fragment 1 year after surgery. [ABSTRACT FROM AUTHOR]

Purpose: Early diagnosis of attritional wear of the flexor pollicis longus (FPL) tendon is essential in preventing subsequent tendon rupture. There are currently few objective methods of assessing FPL attrition. We hypothesized that color Doppler imaging could visibly detect FPL tendon attrition, and analyzed our results.Methods: We evaluated ultrasound imaging of the contact between the FPL tendon and a volar locking plate using the real-time B-mode and Doppler waveforms of the FPL tendon using the continuous Doppler wave mode in 40 patients who underwent fixation of the distal volar locking plate for distal radius fracture. Twenty out of 40 patients underwent plate removal surgery after ultrasound evaluation. We also assessed the relationship between the Doppler waveforms and attrition of the FPL tendon in these 20 patients.Results: Based on the ultrasound findings (n = 40), we divided Doppler waveforms of the FPL tendon into three categories: type 1, spindle wave; type 2, spindle wave with spike; and type 3, spike wave. There were 23, 11, and six patients with type 1, 2, and 3 waveforms in the affected hand, respectively. There were 37 patients with type 1, three with type 2, and no patient with type 3 waveforms in the contralateral wrist. Of the 20 patients who underwent plate removal, five had type 3 waveforms. We found tendon fraying or partial tears in three of these five patients. In addition, all five patients showed changes to type 1 or 2 waveforms after plate removal. None of the other 15 patients with type 1 or 2 waveforms had any tendon injuries during plate removal.Conclusions: Spike Doppler waveform can indicate abnormal findings, and may be a useful method to predict tendon attrition, because of its visibility.Diagnostic Study: Level III evidence. [ABSTRACT FROM AUTHOR]

Background: We evaluated trigger fingers ultrasonographically and clarified differences between fingers with and without continuous locking or snapping symptoms according to the thicknesses of the A1 pulley, flexor tendon and volar plate.Methods: We evaluated 26 trigger fingers, divided into two groups: Group 1, 14 fingers with locking or snapping; and Group 2, 12 fingers without such symptoms. We also evaluated 26 contralateral fingers as controls (Control 1 and 2 groups). We compared each group to the respective control group according to thickness of the A1 pulley and volar plate, and cross-sectional area of the flexor tendon. In addition, nine fingers with locking or snapping and treated using corticosteroid injection were evaluated according to symptoms and sonographic findings 3-4 weeks after treatment.Results: Thickness of the A1 pulley and cross-sectional area of the flexor tendon were greater in both Groups 1 and 2 than in controls. Thickness of the volar plate was greater in Group 1 than in Control 1, although no significant difference was seen between Group 2 and Control 2. In Group 1, eight of the nine fingers showed an alleviation of locking or snapping symptoms with corticosteroid injection, and sonographic findings showed that thickness of the volar plate was significantly decreased with corticosteroid injection, in addition to reduced thickness of the A1 pulley.Conclusion: In addition to thickening of the A1 pulley, thickening of the volar plate may represent an important contributor to continuous snapping or locking symptoms. [ABSTRACT FROM AUTHOR]

This study examined Mycobacterium tuberculosis (MTB)-secreted MPT64 as a surrogate of bacterial viability for the diagnosis of active pulmonary TB (PTB) and for follow-up treatment. In this proof-of-concept prospective study, 50 PTB patients in the Tokyo metropolitan region, between 2017 and 2018, were consecutively included and 30 healthy individuals were also included. Each PTB patient submitted sputum on days 0, 14 and 28 for diagnosis and follow-up, and each healthy individual submitted one sputum sample. The following were performed: smear microscopy, Xpert MTB/RIF, MGIT and solid culture, and MPT64 detection on the sputum samples. Ultrasensitive ELISA (usELISA) was used to detect MPT64. The receiver operating characteristic analyses for diagnosis and follow-up revealed the optimal cut-off value of MPT64 absorbance for detecting culture positivity at multiple intervals. The sensitivity of MPT64 for diagnosing PTB was 88.0% (95% CI 75.7–95.5) and the specificity was 96.7% (95% CI 82.8–99.9). The specificity of MPT64 for predicting negative culture results on day 14 was 89.5% (95% CI 66.9–98.7). The sensitivity of MPT64 for predicting positive culture results on day 28 was 81.0% (95% CI 58.1–94.6). This study revealed that MPT64 is useful for diagnosing active PTB in patients and predicting treatment efficacy at follow-up. [ABSTRACT FROM AUTHOR]

Biallelic neuroblastoma amplified sequence (NBAS) gene mutations have recently been identified to cause a reduction in its protein expression and a broad phenotypic spectrum, from isolated short stature, optic nerve atrophy, and Pelger–Huët anomaly (SOPH) syndrome or infantile liver failure syndrome 2 to a combined, multi-systemic disease including skeletal dysplasia and immunological and neurological abnormalities. Herein, we report a 34-year-old patient with a range of phenotypes for NBAS deficiency due to compound heterozygous variants; one is a SOPH-specific variant, p.Arg1914His, and the other is a novel splice site variant, c.6433-2A>G. The patient experienced recurrent acute liver failure until early childhood. Hypogammaglobulinemia, a decrease in natural killer cells, and optic nerve atrophy were evident from infancy to childhood. In adulthood, the patient exhibited novel phenotypic features such as hepatic cirrhosis complicated by portal hypertension and autoimmune hemolytic anemia. The patient also suffered from childhood-onset insulin-requiring diabetes with progressive beta cell dysfunction. The patient had severe short stature and exhibited dysmorphic features compatible with SOPH, intellectual disability, and epilepsy. NBAS protein expression in the patient's fibroblasts was severely low. RNA expression analysis for the c.6433-2A>G variant showed that this variant activated two cryptic splice sites in intron 49 and exon 50, for which the predicted consequences at the protein level were an in-frame deletion/insertion, p.(Ile2199_Asn2202delins16), and a premature termination codon, p.(Ile2199Tyrfs*17), respectively. These findings indicate that NBAS deficiency is a multi-systemic progressive disease. The results of this study extend the spectrum of clinical and genetic findings related to NBAS deficiency. [ABSTRACT FROM AUTHOR]