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术后顽固性疼痛是全髋关节置换术 (THA) 后常见并发症, 常难得到有效缓解。常规西医止痛 不良反应多且易产生药物依赖性。祖国传统医学历史悠久, 治疗方法丰富多样, 具有不良反应小、成本低、治疗 范围广等优势被广泛用于各种术后疼痛的治疗。现报道 1 例高龄复杂 THA 后顽固性疼痛患者以针药治疗为 主辅以康复锻炼, 疗效显著, 未出现不良反应, 体现了中国传统医学治疗术后顽固性疼痛的优势, 为临床治疗该 病提供参考, 值得深入研究。 [ABSTRACT FROM AUTHOR]

2023年3月22日重庆市武隆区人民医院收治1例药物中毒伴意识障碍的患者, 在医院外因意 识障碍, 双手指、双足交叉卧床约11h, 双手指关节及双足(足背、足外踝)长时间处于受压状态, 导致压力性损 伤的发生。双手指关节及双足均出现 2 期压力性损伤。主要护理方法为医护协作联合伤口造口小组成员采用 评估-管理-治疗干预方案模式, 全面评估患者疾病及皮肤损伤情况, 运用湿性愈合理念联合使用水胶体敷料、生 长因子、体位管理等方法积极处理。经过8d的精心治疗和护理, 患者双手指关节及双足(足背、足外踝)伤口创 面明显好转, 治愈出院。 [ABSTRACT FROM AUTHOR]

肺动静脉瘘是肺动脉和肺静脉之间直接相通所致的血流短路, 其发病较为罕见, 主要分为先天 性和获得性, 其中先天性较为常见。病态窦房结综合征是一类以窦房结症状性功能障碍为特点的症候群。 2023年6月1日杭州市第一人民医院收治1例患有冠心病基础同时发现肺动静脉瘘又合并病态窦房结综合征 患者, 三者可表现为相同的症状, 使其较难鉴别, 进行检验检查, 以及采取及时、有效的治疗措施, 对患者良好的 预后十分必要。 [ABSTRACT FROM AUTHOR]

采用流行病学方法提取受种者、疫苗生产企业和接种方相关资料, 对接种重组带状疱疹 (HZ) 疫苗(CHO 细胞) 后出现的1例 HZ性神经痛(PHN) 病例开展调查, 评估PHN 与疫苗接种的因果关系, 并为防 止类似事件提供科学依据。根据疫苗接种与临床表现的时间和因果关联等确定所患 PHN 与疫苗无因果关系, 不属于预防接种异常反应, 属偶合症。重组 HZ疫苗是目前预防 HZ安全、有效的手段。 [ABSTRACT FROM AUTHOR]

A case of pregnancy complicated with hemophagocytic syndrome (HPS) with fever combined with anemia as the first symptom was admitted to our hospital. The patient was 26 years old, 31+5 weeks pregnant, 3 pregnancies and 2 births.The patient experienced unexplained fever, anemia, and thrombocytopenia. After admission, extensive tests confirmed a diagnosis of secondary HPS, and she was treated with dexamethasone and intravenous immunoglobulin. Following consultations with the departments of hematology, obstetrics, and neonatology, it was determined that fetal lung maturation was complete. The patient underwent a lower segment cesarean section. Both the patient and the newborn were in good general condition postoperatively. The patient was then transferred to the hematology department for further treatment of HPS and underwent one course of treatment with dexamethasone and etoposide. A follow-up examination of her bone marrow, coagulation profile, and complete blood count showed good recovery, and she was discharged. The patient remained well at a two-week post-discharge outpatient follow-up. [ABSTRACT FROM AUTHOR]

Nocardia is a rare opportunistic pathogen. The number of reported cases of infections caused by this bacterium is increasing, associated with the rising prevalence of organ transplantation, cancer, as well as improvements in clinical diagnostics and laboratory techniques. However, pulmonary infections caused by Nocardia Darsonwierii are rarely reported. Lung cancer combined with Nocardia Darsonwierii pulmonary infection is even more uncommon. Due to its nonspecific clinical manifestations and imaging features, and the difficulty in culturing the bacterium, such infections are prone to being overlooked or misdiagnosed, and the prognosis for affected patients is often poor. The First Affiliated Hospital of Dali University treated a patient with lung cancer and a concurrent Nocardia Darsonwierii pulmonary infection. The patient′s condition improved following chemotherapy combined with antimicrobial treatment using sulfamethoxazole/trimethoprim and moxifloxacin. A review of relevant literature was conducted to enhance clinical awareness of this condition. [ABSTRACT FROM AUTHOR]

回顾性分析安徽中医药大学附属铜陵市中医医院成功诊治的1例乙肝肝硬化患者误服土三七 致合并肝窦阻塞综合征 (HSOS) 的病例, 通过对该病例的诊断及中西医结合治疗进行分析, 以期提高医务人员 对 HSOS的认识及为临床治疗提供参考, 做到早诊断、早治疗, 以免漏诊漏治。 [ABSTRACT FROM AUTHOR]

This paper reports the clinical data of a 53-year-old middle-aged female patient who was admitted to the hospital with dizziness, fatigue, nausea, vomiting for 3 days and diarrhea. The Clinical examination showed that the patient had a variety of autoimmune and non-immune manifestations, accompanied by a variety of complications. The main disease are oral candida infection, type I diabetes, Hashimoto thyroiditis hypothyroidism, and moderate to severe non-segmental vitiligo. At the same time, it was found that the patient had metabolic syndrome, including high-density lipoprotein deficiency, hypertension grade 1 (very high risk group) and diabetic ketoacidosis, diabetic peripheral neuropathy, diabetic nephropathy (stage G2A1), and diabetic peripheral vasculopathy. In addition, the patient had multiple complications such as hypoproteinemia. subclavian artery plaque, common carotid artery plaque, depressive status, and osteoporosis, and was clinically diagnosed as type I autoimmune polyendocrine syndrome. The patient recovered well after comprehensive treatment during hospitalization and continued to take medication after discharge. [ABSTRACT FROM AUTHOR]

This paper reported one case patient with sarcomatoid intrahepatic cholangiocarcinoma who was treated with hepatic arterial chemoembolization(TACE) in Zhuhai Hospital Affiliated to Jinan University. After the first TACE treatment the tumor progression was evaluated and then the treatment plan was adjusted to TACE combined with PD-1 inhibitor. Currently, the patient is still under regular follow-up. For the treatment of sarcomatoid intrahepatic cholangiocarcinoma, regular follow-up and multidisciplinary treatment are still effective means to improve the prognosis. [ABSTRACT FROM AUTHOR]

Objective: To analyze the intraoperative hemodynamic management by hypotension prediction index (HPI) in one patient underwent robot-assisted laparoscopic cystectomy, and to provide the reference for anesthesia monitoring and hemodynamic management in the similar major surgery. Methods: The clinical data, intraoperative hemodynamic data, usage and dosage of vasoactive drugs, and clinical outcomes of one patient underwent robot-assisted laparoscopic cystectomy with HPI-guided intraoperative hemodynamic management were retrospectively analyzed, and the relevant literatures were reviewed. Results: The patient, a 72-year-old female, was admitted due to macroscopic hematuria for 5 months accompanied by dysuria for 3 months. The cystoscope results showed a 7 cm×7 cm×5 cm mass on the right side of the bladder trigone and a 4 cm×3 cm×3 cm mass near the bladder neck. The positron emission tomography/computed tomography (PET/CT) results showed thickening of the right posterior bladder wall with high metabolism, and the preliminary diagnosis was bladder malignancy. After preoperative anesthesia evaluation, the robot-assisted laparoscopic cystectomy was planned. After entering the operating room, the routine monitoring was conducted, and the monitor equipped with HPI software was used to guide intraoperative hemodynamic management. After routine anesthesia induction, the tracheal intubation was performed by video laryngoscope. The patient experienced intraoperative hypotension (IOH) for six times, the cumulative time of mean arterial pressure (MAP)<65 mmHg was 13. 7 min, accounting for 4. 40% of the anesthesia duration, and the time-weighted average of MAP< 65 mmHg was 0. 28 mmHg. The time range with HPI≥85 roughly overlapped with and included the period of MAP<65 mmHg. At 146 time points with HPI≥85, the MAP remained greater than 65 mmHg at 68. 5% (100/146) of the points. At 47 time points with MAP<65 mmHg, HPI≥85 occurred at 97. 9% (46/47) of the points. On the first postoperative day, the patient’s hypersensitive cardiac troponin I was <0. 01 μg·L-1, and no perioperative adverse events occurred. The patient was discharged on the eighth day. Conclusion: HPI can promptly and accurately predict the occurrence of IOH in the patients undergoing robot-assisted laparoscopic cystectomy. The use of HPI-based hypotension correction strategies during surgery can maintain the time-weighted average of MAP<65 mmHg at a lower level. [ABSTRACT FROM AUTHOR]

Only a few cases of inflammatory myofibroblastic tumor (IMT) occurring in epididymis were reported, and all of them were single tumors. We reported a case of multiple IMT of epididymis. The patient found a mass in the right scrotum for a year, and the mass increased progressively. Ultrasonography showed multiple solid nodules in the right scrotum. Right scrotal exploration and resection of mass were performed. Multiple round pleniform masses were found in the right epididymis during the operation. The pathology of the masses was IMT. No recurrence of the masses was found after 6 months of postoperative follow-up. By reviewing the literature, we supposed that IMT of the epididymis had similar clinical symptoms to other masses occurring in the epididymis. It was generally difficult to clarify the IMT before surgery. The tumor would grow progressively and had low malignant potential, so it was recommended to remove the tumor surgically. The patients did not need other special treatment after surgery, because the IMT would not recur generally. However, the regular review was required. [ABSTRACT FROM AUTHOR]

The clinical incidence of ovarian pregnancy is low, and its prognosis is poor once it ruptures. Most ovarian pregnancies rupture in the early stage of pregnancy, leading to massive bleeding in the abdominal cavity and shock. Preoperative diagnosis of ovarian pregnancy rupture is often misdiagnosed as tubal pregnancy rupture or ovarian corpus luteum rupture. Careful exploration during surgery can lead to a clear diagnosis. Therefore, early diagnosis and treatment of ovarian pregnancy are crucial. We reported three cases of ovarian pregnancy. Among them, two cases presented with hemorrhagic shock before surgery, and a case presented with intensified abdominal pain. All patients underwent emergency surgical treatment, and intraoperative exploration confirmed ovarian pregnancy rupture. The treatment of ovarian pregnancy includes drug therapy and surgical treatment. Once rupture occurs, emergency surgical treatment is required. In clinical practice, ovarian pregnancy should be considered in patients with ectopic pregnancy, to achieve early diagnosis and treatment, and to avoid serious complications. [ABSTRACT FROM AUTHOR]

Lipoleiomyoma is relatively rare, and even rarer to appear in the uterus and extrauterine at the same time. We report a case of multiple lipoleiomyoma of uterine and extrauterine. The patient was suggested the possibility of a teratoma of the right ovary, and recommended laparoscopic exploratoration. A right posterior uterine wall inter teratoma muscular exophytic nodule, a solid mass at the end of the appendix and a solid peritoneal mass in the posterior wall of the bladder were found during operation. Postoperative histological pathology and immunohistochemistry showed the lipoleiomyoma. Lipoleiomyoma is a rare benign tumor, mostly in the uterus. The occurrence of extrauterine lipoleiomyoma may be attributed to implantation after gynecological surgery. Clinical symptoms of uterine and extrauterine lipoleiomyoma are atypical. As the fat within the mass can be detected on imaging examination, especially when the mass is adjacent to the adnexal, it is more likely to be misdiagnosed as ovarian teratoma. MRI should be performed if necessary, to improve the detection rate. The treatment of uterine and extrauterine lipoleiomyoma is mainly surgical resection, with a good prognosis. There is a risk of malignant transformation or coexistence with other gynecological malignancies, so the long-term postoperative follow-up is required. [ABSTRACT FROM AUTHOR]

恶性黑色素瘤(MM)是一类来源于人类黑色素细胞的恶性肿瘤, 可遍及于身体各个部位, 最常 见于皮肤和黏膜. 皮肤型 MM 较多见, 大约为80%, 黏膜型黑色素瘤约占20%. MM 患者预后较差, 常经周围 淋巴结转移至胸腹部脏器, 转移器官多见于肺, 脑, 肝, 骨等. 而该例患者因术前完善相关检查并未发现明显代 谢异常增高的淋巴结及病灶, 先后经肺部占位及面部病损切除后最终确诊为皮肤 MM 肺转移. 通过对该例患 者诊治过程的回顾及文献复习, 或能提高对该类疾病认识, 使临床医生重视身体各部位不明原因出现色素沉着 及皮损的情况, 做到病史采集及体格检查详尽仔细, 能够早发现和诊断疾病, 尽早开始系统治疗, 或许能够有效 改善患者远期预后. [ABSTRACT FROM AUTHOR]

该文总结1例慢性难愈性创面(CW)持续渗液患者的护理经验。 采取分阶段皮损辨证中医外治 法联合负压引流、新型敷料、缠缚疗法等促进伤口愈合,管理伤口渗液;辨证施膳,个体化疼痛护理,生活起居及 心理护理等措施,患者于92 d后创面痊愈、患肢无痛出院。随访2周,患者康复良好。中医药辨证外治法联合 新型敷料治疗CW 值得推广。 [ABSTRACT FROM AUTHOR]

该文报道1例妊娠中期瘢痕子宫伴不全纵隔子宫行依沙吖啶引产时不全子宫破裂患者的保守 治疗过程。该患者为2次剖宫产史合并纵隔子宫, 因胎儿发育畸形于孕中期引产, 引产方案为口服米非司酮+ 羊膜腔注射依沙吖啶。引产过程中患者因宫缩痛给予硬膜外分娩镇痛, 1 h后诉右侧下腹部压痛, 阴道出血60 mL, 色鲜红, 急查床边彩色多普勒超声(彩超), 考虑子宫破裂。内诊查宫口已近开全, 因胎儿孕周21周, 在宫 颈内口可触及胎儿肢体, 在充分开放静脉通路的同时给予钳取死胎(胎重700 g), 产后产妇生命体征平稳, 24 h 阴道出血量350 mL, 严密监测产妇生命体征、腹痛及阴道出血情况, 结合实验室检查及彩超结果给予抗炎、促 子宫收缩治疗, 6 d后产妇子宫复旧可, 少量恶露排出, 给予办理出院;47 d后门诊复查彩超子宫破裂长度较前 明显变小。 [ABSTRACT FROM AUTHOR]

Amyotrophic lateral sclerosis (ALS) is one of the rare neuronal diseases in clinic. The pathogenesis of hyperparathyroidism (HPT) remains to be further studied. Therefore, ALS combined with HPT is more rare, and the rate of missed diagnosis and misdiagnosis is very high, which is easy to delay the patient's condition. This article reported the clinical diagnosis and treatment of one patient with ALS combined with HPT, reviewed the relevant literature, analyzed the common points and easy mixing points between the two diseases, and provided a reference for the clinical diagnosis and treatment of such diseases in the future. [ABSTRACT FROM AUTHOR]

外周血嗜酸粒细胞绝对计数大于0.5×109 L-1 称为嗜酸粒细胞增多症,外周血嗜酸粒细胞持 续大于或等于1.5×109 L-1 称为高嗜酸粒细胞增多症 (HE),并常伴有组织器官损伤,依据引起嗜酸粒细胞增 多的原因 HE可分为继发性、原发性、遗传性和特发性 HE。重庆医科大学附属第一医院收治的 2 例原发性 HE 患者,介绍其诊疗情况以进一步认识不同原因 HE的区别,增强临床医生对该病的鉴别及诊治能力。 [ABSTRACT FROM AUTHOR]

该院收治1例晚期肺腺癌合并重症肺炎、呼吸衰竭患者,应用程序性死亡受体1抑制剂治疗过 程中出现重症肺炎、呼吸衰竭,给予气管插管、呼吸机辅助呼吸等抢救治疗后收入急诊重症监护病房,应用多种 抗生素疗效不佳,经肿瘤科会诊后考虑为免疫相关性肺炎,给予糖皮质激素治疗,肺炎明显好转。近年来,随着 以免疫检查点抑制剂为代表的免疫治疗在晚期肿瘤的临床应用越来越广泛,其产生的不良反应,尤其是免疫相 关肺炎也越来越多见。重症患者可出现呼吸衰竭,乃至危及生命。急诊及重症医学科医生在对急性呼吸衰竭 的诊疗过程中应在常见肺部感染、气道病变、心血管病变等鉴别诊断同时考虑此类免疫治疗相关性肺炎的可 能,从而避免漏、误诊。 [ABSTRACT FROM AUTHOR]

2022年8月该院对1例多重障碍儿童进行了行为异常矫治及语言训练,探究了训练方法的有 效性。康复训练过程分为 2 个周期:第1周期为期1个月;第2周期为期半年余。2 个周期的训练呈递增关系。 在行为问题方面,第1周期解决了患儿的“攻击性”行为问题;第2周期患儿习得简单的社会准则“使用礼貌用 语”。在语言问题方面,第1周期解决了患儿发声问题;第 2 周期患儿言语清晰度得到了提升。通过对患儿 2 个 周期的训练,在行为及语言方面均有所提升,为今后应对类似状况提供了康复经验。 [ABSTRACT FROM AUTHOR]

2019 年 10 月 12 日宁波大学附属第一医院妇产科收治1例反复胎盘植入产后大出血均予介入 栓塞治疗患者。其于 2014 年足月顺产一女婴,当时因胎盘植入引起产后大出血,予输血和数字减影血管造影 行子宫动脉栓塞术治疗。2019 年再次妊娠,孕期及产前 B超检查均未提示胎盘植入。于 2019 年 10 月 12 日顺 产一女婴后出现产后大出血,胎盘不能自娩,探查发现宫腔子宫前壁有约直径 7cm 胎盘与宫壁肌层不能分离, 考虑胎盘植入,予原位保留。结合患者拒绝切除子宫、强烈要求保守治疗的意愿再次给予介入栓塞治疗,术中 行双侧子宫动脉栓塞术、髂内动脉栓塞术、髂外动脉的子宫动脉分支栓塞术联合股总动脉的子宫动脉分支栓塞 术,并给予其他对症治疗,术后恢复良好,随访未发生晚期产后出血及感染,双下肢活动良好。但至产后3个月 胎盘仍未能自行排出,行宫腔镜手术,电切除机化组织,手术经过顺利。产后6个月患者月经恢复。 [ABSTRACT FROM AUTHOR]

Abdominal pregnancy is relatively rare in clinical practice, and can be divided into secondary abdominal pregnancy and primary abdominal pregnancy. The primary abdominal pregnancy is rarer than the secondary abdominal pregnancy. This paper reports a case of primary abdominal pregnancy with intraperitoneal hemorrhage. After an emergency laparoscopic exploration, it was found that the pregnancy tissue was implanted in the uterine sacral ligaments. The pregnancy tissue was removed under laparoscopy, and the level of ẞ-human chorionic gonadotropin (β-hCG) reduced well after surgery. Clinical diagnosis of abdominal pregnancy is generally combined with the medical history, the level of B-hCG and gynecologic ultrasound, and can be combined with magnetic resonance imaging as a assisted method if necessary. It is worth noting that the diagnosis of ectopic pregnancy in this special site is difficult, and that abdominal pregnancy is often accompanied by intraperitoneal hemorrhage. The key method of definite diagnosis is laparoscopic exploration, and the key treatment of abdominal pregnancy is also mainly relied on surgical exploration, early detection and thorough removal of intra-abdominal pregnancy lesions to prevent the occurrence of secondary abdominal pregnancy. If necessary, low-dose methotrexate as a combined treatment can be added. To stop bleeding actively can prevent serious complications during the operation. [ABSTRACT FROM AUTHOR]

To summarize and analyze the practice experience of home hospice care for a patient with end-stage chronic obstructive pulmonary disease under the four-way linkage model involving hospital-community health services-community-residents. Based on the new model of the four-way linkage model in health care and the establishment of an Internet-based home care platform, the practice promotes physical comfort for the patient through oxygen therapy, rest and activity guidance, dietary advice, and medication guidance. Utilizing multidisciplinary cooperation, the approach incorporates traditional Chinese medicine music therapy,supportive psychological care with empathy, life review with companionship, advance directives, and grief counseling to provide spiritual care for both the patient and their family members. After over six months of home care, the patient passed away 7 peacefully with their family by their side, and the family members managed to move through the grieving process calmly, achieving peace with life and death, resulting in a satisfactory nursing outcome. [ABSTRACT FROM AUTHOR]

通过分析2例福沙匹坦双葡甲胺引起的过敏性休克, 对福沙匹坦双葡甲胺引起全身过敏反应 的时间、机制及转归等进行文献回顾. 福沙匹坦双葡甲胺可能在用药后数分钟内引起过敏反应, 其可能与辅料 里面聚山梨酯80有关. 过敏反应在停药及对症处理后预后较良好. [ABSTRACT FROM AUTHOR]

子宫恶性中胚叶混合瘤(MMMT)恶性程度极高,预后较差,辅助检查可以预估病变范围、浸润 深度及淋巴转移,确诊主要依靠术后病理检查。以手术治疗为主,术后辅助放化疗,但术后易复发。该文报道1 例以腹痛、腹部包块为主要表现、术后3年复发的子宫 MMMT,并结合文献探讨复发子宫 MMMT 的诊断及治 疗进展。提高临床医生对复发 MMMT 的认识,争取早诊断、早治疗,提高患者生存率。 [ABSTRACT FROM AUTHOR]

惠普尔病(WD)是由惠普尔养障体(TW)感染引起的一种罕见慢性多系统感染性疾病,发病率 较低,好发于卫生状况较差的人群,临床症状不典型,易漏诊、误诊。近年来,随着分子医学检测技术的发展和 宏基因组二代测序(mNGS)辅助诊断技术的应用,WD误诊率下降。该文报道了1例肺 WD患者,经 mNGS在 肺泡灌洗液中检测出 TW 诊断为肺 WD。提示临床医师对不明原因感染应尽早行 mNGS以明确诊断。 [ABSTRACT FROM AUTHOR]

Pleomorphic hyalinizing angiectatic tumor (PHAT) is a very rare low-grade neoplasm of un- certain behavior which tends to occur in connective or other soft tissue. At present there are very few reports on it and due to the rarity its lineage has not been fully elucidated. The purpose of this study was to observe the clinical data, pathological general, microscopic morphology and immunohisto chemical staining results of PHAT in one case of gastroomental soft tissue and to make differential diagnosis, and to retrospectively analyze the relevant literature to improve the further understanding of the disease. [ABSTRACT FROM AUTHOR]

Hyperornithinemia-hyperammonia-hypercitrullinuria syndrome (HHH syndrome) is a rare autosomal recessive urea cycle disorder. A patient with HHH syndrome was admitted to the hospital with severe picky eating, anorexia of high-protein foods and exercise regression. Multiple laboratory tests showed high transaminase, elevated blood ammonia and abnormal coagulation function. The whole exon gene test showed that the child carried a homozygous mutation of SLC25A15 gene c. 521C>G(p. S174x). Both parents carried the heterozygous mutation of the gene, and the child improved after liver transplantation. For these patients, early hematuria genetic metabolism and gene detection are recommended to save lives and improve quality of life [ABSTRACT FROM AUTHOR]

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder of female reproductive development, resulting in vaginal aplasia and uterine hypoplasia. Patients with MRKH syndrome are at the risk of pelvic complications. Due to the low incidence and limited treatment experience, MRKH syndrome is prone to be misdiagnosed. A case of MRKH syndrome complicated with giant ovarian plasma papillary carcinoma was presented. The patient with MRKH syndrome usually has normal structure of ovary, that is why gynecologists should be more alerted to the risk of ovarian pathology. Preoperative MRI can improve the diagnostic sensitivity, and laparoscopic surgery can clarify the pelvis and reduce surgical injuries. In young patients with ovarian cancer, preservation of the healthy ovary can be considered to ensure endogenous hormones, while resection of the stumpy uterus can be recommended to reduce the risk of lesions. In this case, the liver function after operation was obviously abnormal, and noladex was finally given to inhibit the ovarian function in order to initiate chemotherapy at an elective stage. The chemotherapy regimen for ovarian cancer should be still applicable and the follow-up results be satisfactory in this case. This case report with literature review will increase the awareness and alertness of gynecologists to pelvic comorbidities in patients with MRKH syndrome. [ABSTRACT FROM AUTHOR]

Limb -girdle type muscular dystrophy is a group of muscle myopathies with the progressive muscle change mainly in the pelvic girdle and shoulder girdle. It often occurs in childhood with obvious genetic heterogeneity. We reported a case of limb-girdle type muscular dystrophy that a child was diagnosed firstly as bronchopneumonia. The whole exome sequencing technology was used to screen the variant sites of related genes, Sanger sequencing technology was used to analyze and verify the suspected variant sites. The child was found to have the compound heterozygous mutations of DYSF gene (NM_003494), a c.2974T>C(p.W992R) mutation in exon 12 and a c.1169A>G (p.D390G) mutation in exon 28. The locus c.2974T>C (p.W992R) was inherited from the father, and the locus c.1169A>G (p.D390G) from the mother. Both variants were the truncating variants (PVS1). They were not included in the gene database of normal population, so they were rare variants (PM2_Supporting). Therefore, both variants were assessed as the likely pathogenic variants. The validation results of Sanger sequencing were consistent with the results of whole exome sequencing. Accordingly, the child was finally diagnosed as limb-girdle muscular dystrophy type 2B. Whole exome sequencing technology can provide genetic analysis and prenatal diagnosis for limb-girdle type muscular dystrophy, and has key value in clinical decision-making, genetic counseling and re-pregnancy planning. [ABSTRACT FROM AUTHOR]

We report a case in which prune belly syndrome (PBS) was detected by ultrasound examination at 13 weeks of gestation. The woman was pregnant for the first time and had no related genetic history in her family. No obvious abnormality was found by examination before 12 weeks of gestation. The fetal bladder was enlarged and protruded in the abdominal wall detected by ultrasound examination at 12 weeks of gestation. After 2 weeks, the fetal heart beat disappeared and the labor was induced. At present, the etiology and pathogenesis of PBS have not been specifically clarified. It is mostly considered that PBS could be caused by severe bladder outlet obstruction or mesoderm developmental defects secondary to 6 to 10 weeks of pregnancy. This case was analyzed and relevant literatures were reviewed in this paper. To discuss the etiology, pathogenesis, clinical manifestations and treatment of PBS will provide us more references for the clinical understanding, multidisciplinary management and individualized treatment of PBS. [ABSTRACT FROM AUTHOR]

Objective To explore the treatment method of massive idiopathic calcidosis of scrotum for better understand of this disease. Methods The clinical data of a patient with massive idiopathic calcidosis of scrotum were reported. The pathogenesis, clinical features and diagnosis and treatment of the disease were discussed in conjunction with literature. A 38-year-old male patient was admitted to the hospital due to multiple skin nodules in the scrotum for 8 years and slight local itching. Initially the size of soybeans in these years the nodules had increased in size and spread throughout the scrotum. Physical examination: About 3/5 of the scrotum was covered with peanut sized, soft to hard nodules, with poor activity and no tenderness. After admission, relevant preparations were made for excision of multiple hard noduless of scrotum under lumbar anesthesia, and the defect of scrotum skin was repaied by scrotal pedicled flap. Results Pathological findings of postoperative gross specimens were consistent with idiopathic calcium deposition of scrotum. After operation, the patient was given symptomatic treatment of anti-inflammatory fluid replacement. Stitches were removed one week after operation, and grade A healing of surgical incision was found. Postoperative follow-up was 3 months.The scrotal shape of the patient was satisfactory. Conclusion This disease is rare and often, occurs in children or young people. It is a painless hard nodule, located at the dermis. Laser, electrocautery, freezing and other methods can be used for small nodule. For patients with large area and large skin defect resection, pedicled flap scrotal shape can be used to restore the aesthetic perspective of the scrotum and improve patient satisfaction. [ABSTRACT FROM AUTHOR]

Objective To analyze the clinical presentations, radiographic features, operative findings, and pathological characteristics of one patients with unilateral maxillary and mandibular simple bone cysts (SBC), and to enhance the clinicians’ recognition and treatment of this condition. Methods The clinical data, radiographic features, operative findings, pathological characteristics, clinical diagnosis, and treatment of a case with right-sided maxillary and mandibular SBC were collected,and the relevant literatures were reviewed. Results The patient, an 11-year-old male, presented with a clearly demarcated low-density image within the right maxillary and mandibular bones on panoramic tomography. There was no history of trauma, no subjective symptoms or facial asymmetry before treatment, and no positive signs of the specialist examination. The patient was diagnosed with right-sided maxillary and mandibular SBC based on the operative exploration and pathological diagnosis. The patient received the conventional curettage treatment and recovered well postoperatively without significant discomfort. A 6-month follow-up results showed good intraoral wound healing without swelling. The cone beam computed tomography (CBCT) results showed a smaller bone cavity with visible new bone trabeculae, indicating good osteogenesis. The patient was currently the under regular follow-up. Conclusion Unilateral maxillary and mandibular SBC do not present with characteristic clinical signs and radiographic features, which can be easily confused with the common maxillofacial diseases. A definitive diagnosis should be made by combining radiographic examination with surgical and pathological findings. [ABSTRACT FROM AUTHOR]

内蒙古自治区人民医院收治1例伴冠心病的成人 DiGeorge 综合征患者, 因胸闷就诊时意外发 现低钙血症, 期间间断手足搐搦, 但甲状旁腺激素始终处于正常范围, 一直未确诊, 经低深度全基因组测序及相 关检查后最终确诊为 DiGeorge 综合征。应用维生素 D及钙剂后血钙水平升高, 手足搐搦明显缓解。提示低钙 血症、甲状旁腺激素在正常范围的情况下首先将其考虑为甲状旁腺功能减退症, 避免误诊及漏诊;低钙血症伴 冠心病、特殊面容等表现的患者需进一步筛查遗传相关原因。 [ABSTRACT FROM AUTHOR]

对严重的成人骨性Ⅱ类伴下颌偏斜畸形患者-般采用术前正畸去代偿, 手术矫正颌骨畸形, 术 后采用正畸精细调整咬合关系的正畸正颌联合治疗方式。湖南省长沙市口腔医院收治 1 例成人骨性Ⅱ类伴下 颌偏斜患者, 给予正畸正颌联合治疗后, 患者面型、咬合关系均改善, 取得了满意的效果。对下颌偏斜患者治疗 前综合评估其下颌偏斜的严重程度、形成机制和患者的主诉, 并对患者进行个性化的治疗设计是治疗成功的 关键。 [ABSTRACT FROM AUTHOR]

正中弓状韧带压迫综合征（MALS）是临床少见的一类综合征, 仅有1%的正中弓状韧带（MAL）压迫出现临床症状, 患者以慢性腹痛最多见, 其他少见的有恶心呕吐、体重下降等表现。作者于2021年2月至2023年6月接诊了3例以腹痛就诊的MALS患者, 结合相关文献, 进行回顾性总结MALS的发病机制、影像学表现、临床表现、治疗, 以提高临床医生对该病的认识, 减少漏诊和误诊。 [ABSTRACT FROM AUTHOR]

探讨肺移植术后患者新型冠状病毒感染（新冠感染）的药物治疗方案及治疗过程, 为患者制定个体化给药方案提供经验。以1例肺移植合并新冠感染患者的治疗为例, 分析治疗方案的合理性, 及时关注治疗过程中药物的相互作用和不良反应, 制定该患者的治疗方案。药师通过分析药物可能的相互作用和不良反应及时优化治疗方案, 结合患者病情和特点, 制定个体化给药方案。药师在参与患者治疗过程中为其提供个体化给药方案, 体现了药师在患者促进合理用药、保证用药安全性、有效性方面的积极作用。 [ABSTRACT FROM AUTHOR]

肝性脊髓病（HM）是由多种肝病导致门静脉高及门腔静脉分流, 并引起颈髓以下脊髓侧索脱髓鞘病变, 临床表现为肢体缓慢进行性对称性痉挛性瘫痪。HM和肝性脑病均是以神经系统症状为突出表现的终末期肝病较为严重的并发症, 但其发病机制和临床症状不尽相同。但目前临床医务工作者, 尤其是基层医院的临床医务工作者对上述2种并发症, 尤其是HM的认识不足, 容易导致漏诊和延误治疗。该院消化内科收治并使用利福昔明周期性使用联合门冬氨酸鸟氨酸治疗HM患者1例, 结合相关文献对诊治经验及思路进行讨论, 旨在提高临床医务工作者对HM的认识。 [ABSTRACT FROM AUTHOR]

Giant cervical polyps are very rare in clinic, and only a few cases have been reported in the literature. The morphology of polyps varies, may present as malignant, and some cases occur in unmarried women without a history of sexual activity, which limits the accuracy of clinical diagnosis. While most cervical polyps are benign, there is a certain probability of malignant transformation, which should be differentiated from rare malignant lesions that manifest as cervical polyps. Hysteroscopic surgery is an important method for the treatment of this disease, and small hysteroscopy is particularly recommended for patients without sexual history. This paper reports a case of unmarried woman with huge excrescence of vaginal orifice, which was confirmed as cervical polyp by hysteroscopy and pathological examination, in order to enrich the understanding of giant cervical polyps and provide guidance for clinical diagnosis and therapy [ABSTRACT FROM AUTHOR]

Pelvic tuberculosis is a form of female pelvic inflammation caused by Mycobacterium tuberculosis, which is a common cause of chronic pelvic inflammation and infertility. The characteristics of abdominal and pelvic blunt pain and abdominal distension caused by pelvic tuberculosis are similar to those of advanced epithelial ovarian cancer. And there are no specific clinical or imaging manifestations of extrapulmonary tuberculosis. The above reasons lead to pelvic peritoneal tuberculosis easily confused with peritoneal carcinoma and advanced epithelial ovarian cancer. In this paper, we analyzed a case of advanced epithelial ovarian cancer. Because no tumor cells were found in ovarian space lesion tissue puncture pathology and ascites exfoliative cytology, examination of tuberculosis was performed. The patient was misdiagnosed as pelvic tuberculosis based on positive tuberculin test and Mycobacterium tuberculosis interferon-γ, but later pathology confirmed the presence of epithelial ovarian cancer. We summarized the diagnosis and treatment process of this case in order to accumulate experiences for the clinical diagnosis and treatment of advanced epithelial ovarian cancer and pelvic tuberculosis. [ABSTRACT FROM AUTHOR]

Primary bronchial lung cancer, commonly known as lung cancer, is one of the malignant tumors with high morbidity and mortality in the world. In recent years, the incidence of lung cancer in women has increased, and most of them are lung adenocarcinoma. Because the early symptoms of lung cancer are occult, it is often detected when metastasis has already occurred. We report a case of endometrial metastasis of lung adenocarcinoma. The patient presented with abnormal vaginal bleeding, and the pathology after curettage indicated adenocarcinoma. After immunohistochemical examination and imaging examination were combined to exclude the possibility of tumor origin in other sites, the diagnosis was confirmed as lung adenocarcinoma metastasis to the endometrium. Metastasis of lung cancer to the endometrium is extremely rare and is likely to be missed or misdiagnosed. In this paper, the data of a case of endometrial metastasis of lung adenocarcinoma were retrospectively analyzed and the relevant literatures were reviewed in order to enhance the clinical vigilance of endometrial metastasis of lung adenocarcinoma. [ABSTRACT FROM AUTHOR]

由于颈部复杂的解剖和重要的血管神经结构,咽旁间隙肿瘤(PPST)的切除及手术方式的选择 对耳鼻咽喉科医生仍是一个很大的挑战。该院收治1例发生于中年男性咽旁间隙恶性肿瘤并发淋巴结转移患 者,因颈部淋巴结巨大,穿刺活检简单、风险小,且患者家属对术前明确肿瘤性质要求强烈,故术前给予 B超引 导下颈部淋巴结细针穿刺细胞学检查,该检查对 PPST 的诊断有很大帮助,但应注意细胞学和病理学的差异。 磁共振检查有助于缩小鉴别诊断范围,区分良性和恶性病变。 [ABSTRACT FROM AUTHOR]

惠普尔病是由惠普尔养障体引起的、罕见的全身性疾病,可累及多器官。惠普尔养障体是一种 革兰阳性杆菌,该文报道1例人类免疫缺陷病毒合并惠普尔养障体感染的案例,经治疗后好转出院,希望为惠 普尔病的诊疗提供经验。 [ABSTRACT FROM AUTHOR]

总结该院收治的1例以高钙血症为主要表现的儿童白血病的临床特点,并复习相关文献。该 例患儿高钙血症原因不明,多学科会诊后,完善骨髓检查,最终明确诊断为急性淋巴细胞白血病。对血常规无 异常、无典型骨痛及肝脾大的高钙血症患儿,应考虑恶性肿瘤,如白血病、淋巴瘤的可能。 [ABSTRACT FROM AUTHOR]

Two cases of rare α thalassemia gene mutation were reported. The results of blood routine showed the decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), and the normal hemoglobin (Hb). Hemoglobin electrophoresis showed that the first patient had normal HbA2 and elevated HbF, and the second patient had normal HbA2 and HbF. Common mutations of α and β thalassemia gene were not detected in both patients. Because the blood phenotype and genotype did not match, the α thalassemia carriers were suspected. Three rare α thalassemia types, including--THAI, -α27.6 and -α21.9, were further detected by GapPCR. However, the results did not show abnormality. Sanger sequencing method was then used to directly sequence the DNA of the study subjects. It was found that the two patients carried rare mutations of α globin gene, namely CD26 (GCG>GGG) heterozygous mutation and CD104 (TGC>TAC) heterozygous mutation, respectively. In this study, two rare α thalassemia gene mutations were reported, which enriched the gene mutation spectrum of the Chinese population, with a guiding significance for the screening diagnosis and genetic counseling of the disease. [ABSTRACT FROM AUTHOR]

该院 201 9年 10 月 31 日收治1例服用大剂量六味地黄丸后出现心, 肾功能损害患者,应用临床 药学专业知识, 从六味地黄丸的成分及患者所患基础疾病方面进行分析, 表明六味地黄丸成分中的泽泻具有肾 毒性, 酒萸肉含有机酸,大剂量服用可能出现中毒. 六味地黄丸并不是人们所认为的安全, 无毒, 临床应用中应 告知患者避免随意服用,提高公众对六味地黄丸安全性的认识,避免不良事件的发生. [ABSTRACT FROM AUTHOR]

该院收治1例早期胃癌术后伤口反复出现皮下脓肿患者,通过脓液培养及飞行质谱检测,最后 确定为偶发分枝杆菌感染,选择耐药更低的利奈唑胺治疗,并经包括病房卫生消毒、心理护理、饮食护理、伤口 护理(伤口处理原则及方法、敷料的选择)、个体化用药原则及医疗废物处理等精细化护理,取得了较好的疗效, 患者伤口完全愈合。 [ABSTRACT FROM AUTHOR]

回顾性分析1例运用茵陈蒿汤联合大柴胡汤辨证加减治疗远端胆管占位合并梗阻性黄疸引起 的皮肤黄染、消化道不良及乏力等全身症状。运用茵陈蒿汤联合大柴胡汤体现了中医治疗黄疸之阳黄以“和解 少阳、内泻热结、清湿利腑”为基本治则;疾病中后期在原方基础上加上鸡内金、焦三仙、白术等健脾行气之品, 兼顾肝脾两脏,注重“肝病调脾、固护脾胃”;疾病全程关注“胆腑不和”之证,以“和法”贯穿始终,最终取得了良 好疗效。 [ABSTRACT FROM AUTHOR]

视神经脊髓炎谱系疾病(NMOSD)是一种主要累及视神经和脊髓的中枢神经系统脱髓鞘疾病, 极后区综合征患者临床表现为频繁恶心、呕吐和顽固性呃逆,尤其是在不伴其他神经系统症状而单独出现时, 早期易被误诊为消化道疾病和其他疾病,延误诊治。该文报道 1 例以频繁恶心、呕吐起病伴顽固性低钾低钠血 症的水通道蛋白4阳性 NMOSD,以提高对该病的认识,做到早诊断、早治疗,减少误、漏诊,从而改善患者预后。 [ABSTRACT FROM AUTHOR]

该院收治1例误用沙葛籽煲汤,大量进食后出现中毒的重症患者,主要表现为意识障碍、呼吸 循环衰竭、严重代谢性酸中毒及顽固性高乳酸血症,合并肺部感染及脓毒症休克。经血液净化联合持续静脉泵 注硫代硫酸钠及抗感染等抢救措施后救治成功。总结取得较好疗效可能原因是在综合治疗基础上早期联合使 用血液灌流及持续血液滤过,并且持续泵注硫代硫酸钠纠正细胞内呼吸抑制、改善微循环及炎症反应,为诊治 该类患者提供借鉴。 [ABSTRACT FROM AUTHOR]