Sara Negrello, Arrigo Pellacani, M. Di Bartolomeo, G. Pollastri, A. Anesi
Bone xanthoma is a rare benign primary bone lesion histologically characterized by sheets of foamy cells which are macrophages with a cytoplasm filled with droplets of fat. It is usually associated with endocrine or metabolic diseases, in the absence of which the lesion is called primary xanthoma. Because of the lack of pathognomonic radiologic and clinical features, they require a differential diagnosis with a broad spectrum of lesions with a varying degree of malignant potential. We describe a case of primary mandibular xanthoma of a 16-year-old girl without typical cutaneous manifestations and alterations in lipid values. The temporomandibular joint involvement at the mandibular condyle is peculiar in the case described here. We present even a qualitative systematic review of the literature on primary xanthoma of the jaws in others to draw up treatment guidelines.
{"title":"Primary Mandibular Condyle Xanthoma: Case Report and Literature Review","authors":"Sara Negrello, Arrigo Pellacani, M. Di Bartolomeo, G. Pollastri, A. Anesi","doi":"10.3390/reports6010006","DOIUrl":"https://doi.org/10.3390/reports6010006","url":null,"abstract":"Bone xanthoma is a rare benign primary bone lesion histologically characterized by sheets of foamy cells which are macrophages with a cytoplasm filled with droplets of fat. It is usually associated with endocrine or metabolic diseases, in the absence of which the lesion is called primary xanthoma. Because of the lack of pathognomonic radiologic and clinical features, they require a differential diagnosis with a broad spectrum of lesions with a varying degree of malignant potential. We describe a case of primary mandibular xanthoma of a 16-year-old girl without typical cutaneous manifestations and alterations in lipid values. The temporomandibular joint involvement at the mandibular condyle is peculiar in the case described here. We present even a qualitative systematic review of the literature on primary xanthoma of the jaws in others to draw up treatment guidelines.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42169605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hyung Keun Cha, J. Lim, Wookyung Ryu, L. Kim, J. Ryu
The major sites of metastasis in non-small cell lung cancer (NSCLC) are bones, the brain, adrenal glands, the liver, the contralateral lung, and distant lymph nodes. Solitary metastasis in an uncommon site is very rare; therefore, it has not often been reported. Identifying whether a solitary lesion is a metastatic lesion is important because it decisively influences the stage and treatment decisions. We report a series of cases of NSCLC diagnosis with uncommon solitary metastasis. (1) A 71-year-old man was diagnosed with poorly differentiated NSCLC after a bronchoscopic biopsy of a tumor in the bronchus of the right middle lobe. A hypermetabolic lesion was observed in the tail of the pancreas using positron emission tomography/computed tomography (PET/CT), and metastasis of NSCLC was confirmed using endoscopic ultrasound fine-needle aspiration (EUS-FNA). (2) A 77-year-old man was diagnosed with squamous cell carcinoma after a bronchoscopic biopsy of a tumor in the bronchus of the left upper lobe. A hypermetabolic lesion was observed in the bilateral lobes of the thyroid gland using PET/CT, and metastasis of the squamous cell carcinoma was confirmed by FNA and cytology. (3) A 79-year-old woman was diagnosed with adenocarcinoma by brushing cytology performed on the apicoposterior segmental bronchus of the left upper lobe. Hypermetabolic lesions were observed using PET/CT in the subcutaneous layer of the right back and the left breast, and metastases of adenocarcinoma were confirmed by biopsies in each lesion. These three patients were treated with platinum-based chemotherapy for stage IV lung cancer. With this case series, we recommend that, when a solitary lesion is observed in NSCLC patients, a tissue biopsy should be performed, even if the lesion is located in an organ where lung cancer metastasis is uncommon.
{"title":"Solitary Uncommon Metastasis in Non-Small Cell Lung Cancer","authors":"Hyung Keun Cha, J. Lim, Wookyung Ryu, L. Kim, J. Ryu","doi":"10.3390/reports6010008","DOIUrl":"https://doi.org/10.3390/reports6010008","url":null,"abstract":"The major sites of metastasis in non-small cell lung cancer (NSCLC) are bones, the brain, adrenal glands, the liver, the contralateral lung, and distant lymph nodes. Solitary metastasis in an uncommon site is very rare; therefore, it has not often been reported. Identifying whether a solitary lesion is a metastatic lesion is important because it decisively influences the stage and treatment decisions. We report a series of cases of NSCLC diagnosis with uncommon solitary metastasis. (1) A 71-year-old man was diagnosed with poorly differentiated NSCLC after a bronchoscopic biopsy of a tumor in the bronchus of the right middle lobe. A hypermetabolic lesion was observed in the tail of the pancreas using positron emission tomography/computed tomography (PET/CT), and metastasis of NSCLC was confirmed using endoscopic ultrasound fine-needle aspiration (EUS-FNA). (2) A 77-year-old man was diagnosed with squamous cell carcinoma after a bronchoscopic biopsy of a tumor in the bronchus of the left upper lobe. A hypermetabolic lesion was observed in the bilateral lobes of the thyroid gland using PET/CT, and metastasis of the squamous cell carcinoma was confirmed by FNA and cytology. (3) A 79-year-old woman was diagnosed with adenocarcinoma by brushing cytology performed on the apicoposterior segmental bronchus of the left upper lobe. Hypermetabolic lesions were observed using PET/CT in the subcutaneous layer of the right back and the left breast, and metastases of adenocarcinoma were confirmed by biopsies in each lesion. These three patients were treated with platinum-based chemotherapy for stage IV lung cancer. With this case series, we recommend that, when a solitary lesion is observed in NSCLC patients, a tissue biopsy should be performed, even if the lesion is located in an organ where lung cancer metastasis is uncommon.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48924376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Labouchère, Cécile De Sandre, M. Broome, A. Reinhard, A. Louvrier
Glomangiopericytomas are a rare type of sinonasal tumors with high relapse rates. Endoscopic sinus surgery is the classical technique to remove such tumors. Here we report a case of sinonasal glomangiopericytoma with orbital extension, infrequently described in the literature. A 50 year-old woman was referred to our hospital because of a right paranasal painless swelling, which appeared 9 months ago and was slowly increasing in size since her first visit. A Magnetic Resonance Imaging (MRI) revealed a tumor (18 × 25 × 37 mm) centered on the right ethmoidal cells, with adjacent nasal bone erosion and a right orbital invasion. The tumor was removed with a combined surgical approach (endoscopic and trans-sinusal frontal approach) after pre-surgical embolization. Based on the results of the histopathological examination, the diagnosis of a glomangiopericytoma was confirmed. The patient was discharged after one week, and an uneventful long-term follow-up.
{"title":"A Combined Surgical Approach for the Treatment of a Sino-Naso-Orbital Glomangiopericytoma","authors":"A. Labouchère, Cécile De Sandre, M. Broome, A. Reinhard, A. Louvrier","doi":"10.3390/reports6010007","DOIUrl":"https://doi.org/10.3390/reports6010007","url":null,"abstract":"Glomangiopericytomas are a rare type of sinonasal tumors with high relapse rates. Endoscopic sinus surgery is the classical technique to remove such tumors. Here we report a case of sinonasal glomangiopericytoma with orbital extension, infrequently described in the literature. A 50 year-old woman was referred to our hospital because of a right paranasal painless swelling, which appeared 9 months ago and was slowly increasing in size since her first visit. A Magnetic Resonance Imaging (MRI) revealed a tumor (18 × 25 × 37 mm) centered on the right ethmoidal cells, with adjacent nasal bone erosion and a right orbital invasion. The tumor was removed with a combined surgical approach (endoscopic and trans-sinusal frontal approach) after pre-surgical embolization. Based on the results of the histopathological examination, the diagnosis of a glomangiopericytoma was confirmed. The patient was discharged after one week, and an uneventful long-term follow-up.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41545627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Predicting the short-term prognosis of patients with terminal cancer is important for treatment decisions and improving patients’ quality of life. Recently, it has been reported that the Barthel Index (BI) can predict short-term prognosis. This study aimed to distinguish the BI items that can more accurately predict the short-term prognosis of terminal cancer patients from among the other BI items. This study compared the accuracy of predicting the 1-, 2-, and 3-week prognosis of BI and individual BI items in 158 cancer patients who died between January 2018 and June 2020 at the Onomichi Municipal Hospital in Japan. For predicting the 1- and 2-week prognosis, the BI item “feeding” scores of 0/5 and 10 showed higher accuracies (0.766 and 0.715, respectively) than BI scores between 0–15 and 20–100. For predicting a 3-week prognosis, the BI item “mobility” scores of 0, 5/10, 15 and the BI item “grooming” scores between 0–5 showed higher accuracies (0.627 and 0.614, respectively) than BI scores between 0–35 and 40–100. BI and individual BI items may be an option for prognostic prediction in terminal cancer patients.
{"title":"The Relationship between the Items of the Barthel Index and Short-Term Prognosis in Terminal Cancer Patients","authors":"Shinya Okamoto, Kazuko Okazaki, Masahiro Okada, F. Murakami, Hiroki Sugihara, Yoshinori Hoshino, Yuka Ogawa, Kengo Banshoya, Eisuke Takei, Shuso Takeda, N. Sugihara","doi":"10.3390/reports6010005","DOIUrl":"https://doi.org/10.3390/reports6010005","url":null,"abstract":"Predicting the short-term prognosis of patients with terminal cancer is important for treatment decisions and improving patients’ quality of life. Recently, it has been reported that the Barthel Index (BI) can predict short-term prognosis. This study aimed to distinguish the BI items that can more accurately predict the short-term prognosis of terminal cancer patients from among the other BI items. This study compared the accuracy of predicting the 1-, 2-, and 3-week prognosis of BI and individual BI items in 158 cancer patients who died between January 2018 and June 2020 at the Onomichi Municipal Hospital in Japan. For predicting the 1- and 2-week prognosis, the BI item “feeding” scores of 0/5 and 10 showed higher accuracies (0.766 and 0.715, respectively) than BI scores between 0–15 and 20–100. For predicting a 3-week prognosis, the BI item “mobility” scores of 0, 5/10, 15 and the BI item “grooming” scores between 0–5 showed higher accuracies (0.627 and 0.614, respectively) than BI scores between 0–35 and 40–100. BI and individual BI items may be an option for prognostic prediction in terminal cancer patients.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47791459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Di Bartolomeo, I. Lusetti, M. Pinelli, Sara Negrello, Arrigo Pellacani, S. Angelini, L. Chiarini, R. Nocini, G. De Santis, A. Anesi
Reconstruction of defects of the jaws is mainly performed via free fibula flap. An incidence of 2–21% of overall flap failure is still described. We investigated the roles of volume, length and number of fibula flap segments on flap survival using novel three-dimensional segmentation tools. We also analyzed the role of other possible risk factors. Seventy-one consecutive patients with a follow up of at least three months and who underwent free fibula flap reconstruction in a single center between 2002 and 2022 have been evaluated. A total of 166 fibula segments were analyzed. Malignancies were the main reason of resection (45.1%). In 69% of the cases a reconstruction of the mandible was performed. The flaps were mainly divided in two segments (39%) (range 1–4), with a mean length of 2.52 cm and a mean volume was 3.37 cm3. Total flap failure (TFF) occurred in 12 cases, (16.9%), while partial flap failure (PFF) appeared in 3 patients (4.2%). Volume, length and number of fibula flap segments did not seem to influence flap failure incidence in uni- and multivariate analysis. Reconstruction of the maxilla and use of a recipient vessel different from the facial artery seemed to significantly impact on flap failure. Smoking and previous surgeries showed a higher trend to flap failure, but they did not reach statistical significance. Prospective and multicentric analysis on a wider population should be assessed.
{"title":"An Analysis of Volume, Length and Segmentation of Free Fibula Flap in Reconstruction of the Jaws: Investigation of Their Role on Flap Failure","authors":"M. Di Bartolomeo, I. Lusetti, M. Pinelli, Sara Negrello, Arrigo Pellacani, S. Angelini, L. Chiarini, R. Nocini, G. De Santis, A. Anesi","doi":"10.3390/reports6010004","DOIUrl":"https://doi.org/10.3390/reports6010004","url":null,"abstract":"Reconstruction of defects of the jaws is mainly performed via free fibula flap. An incidence of 2–21% of overall flap failure is still described. We investigated the roles of volume, length and number of fibula flap segments on flap survival using novel three-dimensional segmentation tools. We also analyzed the role of other possible risk factors. Seventy-one consecutive patients with a follow up of at least three months and who underwent free fibula flap reconstruction in a single center between 2002 and 2022 have been evaluated. A total of 166 fibula segments were analyzed. Malignancies were the main reason of resection (45.1%). In 69% of the cases a reconstruction of the mandible was performed. The flaps were mainly divided in two segments (39%) (range 1–4), with a mean length of 2.52 cm and a mean volume was 3.37 cm3. Total flap failure (TFF) occurred in 12 cases, (16.9%), while partial flap failure (PFF) appeared in 3 patients (4.2%). Volume, length and number of fibula flap segments did not seem to influence flap failure incidence in uni- and multivariate analysis. Reconstruction of the maxilla and use of a recipient vessel different from the facial artery seemed to significantly impact on flap failure. Smoking and previous surgeries showed a higher trend to flap failure, but they did not reach statistical significance. Prospective and multicentric analysis on a wider population should be assessed.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69816889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
High-quality academic publishing is built on rigorous peer review [...]
高质量的学术出版建立在严格的同行评审基础上〔…〕
{"title":"Acknowledgment to the Reviewers of Reports in 2022","authors":"","doi":"10.3390/reports6010002","DOIUrl":"https://doi.org/10.3390/reports6010002","url":null,"abstract":"High-quality academic publishing is built on rigorous peer review [...]","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49542442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Teodoru, Maria-Emilia Cerghedean-Florea, C. Tănăsescu, H. Dura, R. Fleacă, M. Munteanu, H. Stanca, F. Popescu, M. Roman, G. Z. Nicula, H. Matei, M. Vică
Background: The aim of this study was to highlight the structural changes in patients with cataract following surgery and the repercussions on the anterior pole. Methods: A total of 83 patients diagnosed with cataract who underwent uneventful phacoemulsification was included. Every patient was examined one week prior to and two weeks after the surgery. Pre- and postoperative assessment included examination of the anterior and posterior segment, keratometry, and optical biometry. Results: The pre- vs. postoperative axial length (AL) mean difference was 0.07 ± 0.18 mm (p < 0.001).The mean difference of the postoperative anterior chamber depth (ACD) vs. preoperative ACD values (1.11 ± 0.50 mm) was also statistically significant (p < 0.001). The linear regression function postoperative central corneal thickness (CCT) = 0.9004 × (preoperative CCT) + 0.0668, where it characterized a reduced positive correlation (R2) of 68.89% between the postoperative CCT and preoperative CCT. The mean pre-/post-operative differences in the K1 values were 0.08 ± 0.38 D, with a statistically significant difference between the two datasets (p = 0.0152). The mean pre/postoperative difference in the K2 values was 0.002 ± 0.58 D (p = 0.4854). Conclusions: ACD deepened significantly postoperatively. Regarding AL, there was a decrease after surgery, and a very good positive correlation between the post and preoperative values. The CCT values decreased with age. The 2.2-mm corneal incision during cataract surgery resulted in a relatively small postoperative residual astigmatism.
{"title":"Evaluation of Ocular Biometric Parameters Following Cataract Surgery","authors":"C. Teodoru, Maria-Emilia Cerghedean-Florea, C. Tănăsescu, H. Dura, R. Fleacă, M. Munteanu, H. Stanca, F. Popescu, M. Roman, G. Z. Nicula, H. Matei, M. Vică","doi":"10.3390/reports6010003","DOIUrl":"https://doi.org/10.3390/reports6010003","url":null,"abstract":"Background: The aim of this study was to highlight the structural changes in patients with cataract following surgery and the repercussions on the anterior pole. Methods: A total of 83 patients diagnosed with cataract who underwent uneventful phacoemulsification was included. Every patient was examined one week prior to and two weeks after the surgery. Pre- and postoperative assessment included examination of the anterior and posterior segment, keratometry, and optical biometry. Results: The pre- vs. postoperative axial length (AL) mean difference was 0.07 ± 0.18 mm (p < 0.001).The mean difference of the postoperative anterior chamber depth (ACD) vs. preoperative ACD values (1.11 ± 0.50 mm) was also statistically significant (p < 0.001). The linear regression function postoperative central corneal thickness (CCT) = 0.9004 × (preoperative CCT) + 0.0668, where it characterized a reduced positive correlation (R2) of 68.89% between the postoperative CCT and preoperative CCT. The mean pre-/post-operative differences in the K1 values were 0.08 ± 0.38 D, with a statistically significant difference between the two datasets (p = 0.0152). The mean pre/postoperative difference in the K2 values was 0.002 ± 0.58 D (p = 0.4854). Conclusions: ACD deepened significantly postoperatively. Regarding AL, there was a decrease after surgery, and a very good positive correlation between the post and preoperative values. The CCT values decreased with age. The 2.2-mm corneal incision during cataract surgery resulted in a relatively small postoperative residual astigmatism.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44386343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Eiko Sakurai, Kazunori Nakaoka, S. Yamada, Naoe Goto, A. Tomita, Y. Hirooka, T. Tsukamoto
Extramedullary plasmacytoma (EMP) is a rare disease consisting of the presence of monoclonal plasma cells in tissues other than the bone. Most EMPs are located in the head and neck region. We present an extremely rare case of an EMP originating from the biliary tract in a 76-year-old male. This is the fifth report of a primary EMP arising from the biliary tract. He was diagnosed with jaundice, and he was referred for an additional examination. Abdominal ultrasonography revealed a tumor in the gallbladder and bile ducts, and a bile duct biopsy was performed via endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). The pathological and immunohistochemical examination revealed that the tumor was a plasmacytoma originating in the biliary tract. Although endoscopic biliary drainage was performed, the bile duct infection was not well controlled due to obstructive jaundice caused by the tumor. Furthermore, the bleeding from the tumor during chemotherapy was uncontrolled. Pancreaticoduodenectomy and cholecystectomy were performed to control the infection and bleeding. Although chemotherapy was continued after surgery, the tumor of the intrahepatic bile duct enlarged. He died seven months after the diagnosis because of the treatment-resistant tumor.
{"title":"A Case of Extramedullary Plasmacytoma of the Biliary Tract with a Poor Prognosis","authors":"Eiko Sakurai, Kazunori Nakaoka, S. Yamada, Naoe Goto, A. Tomita, Y. Hirooka, T. Tsukamoto","doi":"10.3390/reports6010001","DOIUrl":"https://doi.org/10.3390/reports6010001","url":null,"abstract":"Extramedullary plasmacytoma (EMP) is a rare disease consisting of the presence of monoclonal plasma cells in tissues other than the bone. Most EMPs are located in the head and neck region. We present an extremely rare case of an EMP originating from the biliary tract in a 76-year-old male. This is the fifth report of a primary EMP arising from the biliary tract. He was diagnosed with jaundice, and he was referred for an additional examination. Abdominal ultrasonography revealed a tumor in the gallbladder and bile ducts, and a bile duct biopsy was performed via endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). The pathological and immunohistochemical examination revealed that the tumor was a plasmacytoma originating in the biliary tract. Although endoscopic biliary drainage was performed, the bile duct infection was not well controlled due to obstructive jaundice caused by the tumor. Furthermore, the bleeding from the tumor during chemotherapy was uncontrolled. Pancreaticoduodenectomy and cholecystectomy were performed to control the infection and bleeding. Although chemotherapy was continued after surgery, the tumor of the intrahepatic bile duct enlarged. He died seven months after the diagnosis because of the treatment-resistant tumor.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44428911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dent disease is a rare renal tubular disorder that appears almost exclusively in males. The diagnosis is still challenging, and therefore Dent disease is occasionally misdiagnosed. We report a case of a 45-year-old man with Dent disease who developed renal failure. Since the age of 7 months, he persistently exhibited proteinuria. At the age of 24 years, he underwent kidney biopsy, which revealed focal segmental glomerulosclerosis. The patient’s brother was found to have proteinuria since he was 2 years old. At the age of 45 years, the patient was transferred to a tertiary care nephrologist, and Dent disease was suspected. Genetic testing revealed a CLCN5 mutation. We highlight the broad spectrum of clinical manifestations in Dent disease and the importance of having a high clinical suspicion to attain a definitive diagnosis. Furthermore, future research regarding the clinical course of the disease, prognosis, and effective treatment options is needed.
{"title":"Dent Disease Type 1: Still an Under-Recognized Renal Proximal Tubulopathy: A Case Report","authors":"M. Vitkauskaitė, A. Čerkauskaitė, M. Miglinas","doi":"10.3390/reports5040050","DOIUrl":"https://doi.org/10.3390/reports5040050","url":null,"abstract":"Dent disease is a rare renal tubular disorder that appears almost exclusively in males. The diagnosis is still challenging, and therefore Dent disease is occasionally misdiagnosed. We report a case of a 45-year-old man with Dent disease who developed renal failure. Since the age of 7 months, he persistently exhibited proteinuria. At the age of 24 years, he underwent kidney biopsy, which revealed focal segmental glomerulosclerosis. The patient’s brother was found to have proteinuria since he was 2 years old. At the age of 45 years, the patient was transferred to a tertiary care nephrologist, and Dent disease was suspected. Genetic testing revealed a CLCN5 mutation. We highlight the broad spectrum of clinical manifestations in Dent disease and the importance of having a high clinical suspicion to attain a definitive diagnosis. Furthermore, future research regarding the clinical course of the disease, prognosis, and effective treatment options is needed.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47509362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tatsuo Kanda, Naoki Matsumoto, Tomotaka Ishii, Shuhei Arima, Shinji Shibuya, Masayuki Honda, Reina Sasaki-Tanaka, R. Masuzaki, Shini Kanezawa, M. Ogawa, S. Yamazaki, O. Aramaki, H. Kogure, Y. Okamura
Through living-donor liver transplantation (LDLT) from a human leukocyte antigen (HLA)-matched sibling donor, it may be possible to stop the use of immunosuppressants. It is possible that acute antibody-mediated rejection and chronic active antibody-mediated rejection through the positivity of donor-specific anti-HLA antibodies and/or T cell-mediated rejection may affect the prognosis of liver transplantation. The etiologies of liver diseases of the recipient may also affect the post-transplantation course. Herein, we report on the successful re-treatment with direct-acting antiviral (DAA) therapy against hepatitis C virus (HCV) infection in a patient who underwent a LDLT from HLA-matched sibling donor. After liver transplantation for HCV-related liver diseases, it is easy for HCV to re-infect the graft liver under a lack of immunosuppressants. DAA therapy against HCV re-infection immediately after transplantation should be commenced, and it is important to eradicate HCV for better prognosis of the recipients in LDLT for HCV-related liver diseases.
{"title":"Liver Transplantation from a Human Leukocyte Antigen-Matched Sibling Donor: Effectiveness of Direct-Acting Antiviral Therapy against Hepatitis C Virus Infection","authors":"Tatsuo Kanda, Naoki Matsumoto, Tomotaka Ishii, Shuhei Arima, Shinji Shibuya, Masayuki Honda, Reina Sasaki-Tanaka, R. Masuzaki, Shini Kanezawa, M. Ogawa, S. Yamazaki, O. Aramaki, H. Kogure, Y. Okamura","doi":"10.3390/reports5040049","DOIUrl":"https://doi.org/10.3390/reports5040049","url":null,"abstract":"Through living-donor liver transplantation (LDLT) from a human leukocyte antigen (HLA)-matched sibling donor, it may be possible to stop the use of immunosuppressants. It is possible that acute antibody-mediated rejection and chronic active antibody-mediated rejection through the positivity of donor-specific anti-HLA antibodies and/or T cell-mediated rejection may affect the prognosis of liver transplantation. The etiologies of liver diseases of the recipient may also affect the post-transplantation course. Herein, we report on the successful re-treatment with direct-acting antiviral (DAA) therapy against hepatitis C virus (HCV) infection in a patient who underwent a LDLT from HLA-matched sibling donor. After liver transplantation for HCV-related liver diseases, it is easy for HCV to re-infect the graft liver under a lack of immunosuppressants. DAA therapy against HCV re-infection immediately after transplantation should be commenced, and it is important to eradicate HCV for better prognosis of the recipients in LDLT for HCV-related liver diseases.","PeriodicalId":74664,"journal":{"name":"Reports (MDPI)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41403037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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