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MYH9 nephropathy

  • Oh, Taehoon;Seo, Hyun Jung;Lee, Kyu Taek;Kim, Han Jo;Kim, Hwi Jun;Lee, Ji-Hye;Cheong, Hae Il;Lee, Eun Young
    • Kidney Research and Clinical Practice
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    • v.34 no.1
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    • pp.53-56
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    • 2015
  • MYH9-related disorder is an autosomal dominant disease caused by a mutation in the MYH9 gene, which encodes nonmuscle myosin heavy chain IIA (NMMHC-IIA). This disease is characterized by giant platelets, thrombocytopenia, granulocyte inclusion bodies, proteinuria, and high-pitch sensorineural deafness. Nephropathy has been observed in 30% of patients with MYH9-related disorder. The characteristic features are early onset proteinuria and rapidly progressing renal disorder. However, the prognosis of MYH9 nephropathy remains unclear. Herein, we describe a 36-year-old woman who presented with proteinuria and was diagnosed with MYH9 nephropathy via renal biopsy and gene analysis. Her proteinuria improved after administration of an angiotensin II receptor blocker, but was aggravated after changing to a calcium channel blocker.

A Case of Long-term Survival in a Patient with Primary Primitive Neuroectodermal Tumor of the Lung

  • Kang, Lae Hyung;Kim, Hyeong Jin;Jang, Jin Ho;Kim, Jun Hyun;Choi, Kyoung Un;Jeon, Doosoo
    • Kosin Medical Journal
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    • v.33 no.2
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    • pp.263-270
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    • 2018
  • Primitive neuroectodermal tumor (PNET) arising primarily in the lung is an extremely rare and aggressive malignancy with poor chances of patient survival. We present a case of long-term survival by a 29-year-old woman with PNET diagnosed after a hertological and immunohertochemical examination of a biopsy specimen obtained by performing video-assisted thoracic surgery. The patient underwent a left lower lung lobe lobectomy and 6 cycles of adjuvant chemotherapy. The patient has been free of any symptoms of the recurrence of the disease for 6 years after treatment completion.

Coronavirus Disease (COVID-19) Outbreak and Its Impact on Spinal Daily Practice : Preliminary Report from a Single (Regional) University Hospital in Republic of Korea

  • Ham, Chang Hwa;Moon, Hong Joo;Kim, Joo Han;Park, Youn-Kwan;Lee, Tae Hoon;Kwon, Woo-Keun
    • Journal of Korean Neurosurgical Society
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    • v.63 no.4
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    • pp.407-414
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    • 2020
  • Objective : Since the first discovery of the 2019 novel coronavirus (COVID-19), rapid and wide spread of the disease has been reported and the World Health Organization announced that a 'pandemic' has started. Up to date there is little known regarding the impact of this outbreak on spinal specialists' daily clinical practice. We intended to evaluate how COVID-19 has affected the number of spinal disease patients we meet and operate in daily practice. Methods : The de-identified data regarding number of patients visiting the spine clinic at a tertiary referral hospital and a secondary level hospital from January, February and March of 2017 to 2020 were retrospectively reviewed. The number of out-patient department (OPD) visits, number of emergency room (ER) visits as well as number of surgeries performed during the reviewed period were collected and analyzed, comparing 2020 to the previous 3 years. Results : The number of daily OPD visits showed a steady decrease starting from January, and presented a statistically significant decrease by early March 2020, compared to the previous 3 years. During the same period, decrease in number of daily ER visits was statistically significant as well. The number of elective surgeries or number of surgeries for patients admitted via ER during COVID-19 outbreak remained similar to that of 2017-2019 suggesting, despite the decrease of patients visiting the hospital for spinal diseases, those whom required surgery still visited the hospital. The results were consistant among other hospital level. Conclusion : The outbreak of COVID-19 affected our daily practice as OPD and ER visits reduced but did not affect the number of surgeries. We believe that this report will be informative to spinal specialists worldwide fighting the COVID-19 pandemic.

Utilization of End-of-Life Care Rooms by Patients Who Died in a Single Hospice Unit at a National University Hospital in South Korea

  • Gyu Lee Kim;Seung Hun Lee;Yun Jin Kim;Jeong Gyu Lee;Yu Hyeon Yi;Young Jin Tak;Young Jin Ra;Sang Yeoup Lee;Young Hye Cho;Eun Ju Park;Young In Lee;Jung In Choi;Sae Rom Lee;Ryuk Jun Kwon;Soo Min Son
    • Journal of Hospice and Palliative Care
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    • v.26 no.2
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    • pp.60-68
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    • 2023
  • Purpose: For the dignity of patients nearing the end of their lives, it is essential to provide end-of-life (EoL) care in a separate, dedicated space. This study investigated the utilization of specialized rooms for dying patients within a hospice unit. Methods: This retrospective study examined patients who died in a single hospice unit between January 1, 2017, and December 31, 2021. Utilizing medical records, we analyzed the circumstances surrounding death, the employment of specialized rooms for terminally ill patients, and the characteristics of those who received EoL care in a shared room. Results: During the 1,825-day survey period, deaths occurred on 632 days, and 799 patients died. Of these patients, 496 (62.1%) received EoL care in a dedicated room. The average duration of using this dedicated space was 1.08 days. Meanwhile, 188 patients (23.5%) died in a shared room. Logistic regression analysis revealed that a longer stay in the hospice unit was associated with a lower risk of receiving EoL care in a shared room (odds ratio [OR]=0.98, 95% confidence interval [CI] 0.97~0.99; P=0.002). Furthermore, a higher number of deaths on the day a patient died was associated with a greater risk of receiving EoL care in a shared room (OR=1.66, 95% CI 1.33~2.08; P<0.001). Conclusion: To ensure that more patients receive EoL care for an adequate duration in a private setting, additional research is necessary to increase the number of dedicated rooms and incorporate them into the hospice unit at an early stage.

The Clinical Characteristic and Management of Patients with Nocardiosis in a Tertiary Hospital in China

  • Peilin Liu;Zhiqian Wang;Zijuan Jian;Xuan Liu;Yanming Li;Qun Yan;Baiyun Zhong;Mengting Liao;Xianghui Liang;Wenen Liu
    • Journal of Microbiology and Biotechnology
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    • v.33 no.5
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    • pp.574-581
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    • 2023
  • Nocardiosis is an uncommon opportunistic bacterial infection which becomes a significant health problem due to its increasing incidence and high mortality rate. However, many nocardiosis patients are underdiagnosed by physicians. To summarize the clinical characteristics and management of nocardiosis would help with better diagnosis and prognosis of nocardiosis. This retrospective study was conducted based on the medical records of nocardiosis patients between January 2015 and December 2021 in a tertiary hospital in China. Overall, 44 nocardiosis patients with 54 specimens were included. The patients consisted of 26 males and 18 females with a mean age of 50.4 ± 13.2 years. Among 44 patients, 26 (59.1%) were previously given immunosuppressive therapy. Connective tissue diseases (CTDs) were the most common underlying disease (16/44). The most frequent infection sites were the lungs (17/44) and skin or soft tissues (8/44). Common symptoms included cough (23/44), expectoration (18/44), fever (15/44), and subcutaneous abscesses (15/44). Forty-five out of 54 specimens (83.3%) required over 48 hours of culture time for nocardiosis detection. Thirty-six patients were cured or improved, 5 patients were discharged from the hospital due to poor prognosis, and 1 patient died. The average diagnosis time of poor prognosis cases was 19.7 days, which was significantly longer than those of improved or cured patients (7.3 days). Immunosuppressed patients comprise a large part of nocardiosis cases, which is worth attention in clinical practice. Early diagnosis, specifically through prolonged cultivation time of specimen, could help achieve better prognosis of nocardiosis patients.

Midfacial degloving approach for management of the maxillary fibrous dysplasia: a case report

  • Kang, Miju;Jee, Yu-jin;Lee, Deok won;Jung, Sang-pil;Kim, Se-won;Yang, Sunin;Ryu, Dong-mok
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.40
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    • pp.38.1-38.9
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    • 2018
  • Background: Fibrous dysplasia (FD) is a benign bone lesion characterized by the progressive replacement of normal bone with fibro-osseous connective tissue. The maxilla is the most commonly affected area of facial bone, resulting in facial asymmetry and functional disorders. Surgery is an effective management option and involves removing the diseased bone via an intraoral approach: conservative bone shaving or radical excision and reconstruction. Case presentation: This case report describes a monostotic fibrous dysplasia in which the patient's right midface had a prominent appearance. The asymmetric maxillary area was surgically recontoured via the midfacial degloving approach under general anesthesia. Follow-up photography and radiographic imaging after surgery showed the structures were in a stable state without recurrence of the FD lesion. Furthermore, there were no visible scars or functional disability, and the patient reported no postoperative discomfort. Conclusions: In conclusion, the midfacial degloving approach for treatment of maxillary fibrous dysplasia is a reliable and successful treatment option. Without visible scars and virtually free of postoperative functional disability, this approach offers good exposure of the middle third of the face for treatment of maxillary fibrous dysplasia with excellent cosmetic outcomes.

Gleason's Grading of Prostatic Adenocarcinoma: Inter-Observer Variation Among Seven Pathologists at a Tertiary Care Center in Oman

  • Qureshi, Asim;Lakhtakia, Ritu;Bahri, Maiya AL;Haddabi, Ibrahim Al;Saparamadu, Anna;Shalaby, Asem;Riyami, Marwa Al;Rizvi, Gauhar
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.11
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    • pp.4867-4868
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    • 2016
  • Prostatic adenocarcinoma is the commonest solid malignancy seen in Omani elderly males 60-80 years of age. The Gleason grade is the most widely used grading system for prostatic carcinoma and is recommended by the World Health Organization. A peer review was carried out at the Pathology Department of Sultan Qaboos University Hospital (SQUH), Oman, to assess the quality of reporting at the center. The aim of this study was to determine inter-observer variation among 7 pathologists working at a tertiary care center in Oman. A total of 47 consecutive prostatic biopsies were interdependently reviewed by seven pathologists and the results obtained were compared with each other and the original diagnosis. This peer review indicated a fair inter-observer agreement (0.482) among 7 pathologists in the department, with fair to moderate agreement when the results were compared to the reported diagnosis, comparable to the published literature. Dual and sub-specialty reporting are being instituted to improve the performance in this vital aspect of pathology.