Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports

BACKGROUNDTurner syndrome (TS) has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma.CASE SUMMARYIn this case report, we report two cases of TS with different karyotypes and gonadal dysgenesis. Patient 1 had obvious virilization, and was positive for the SRY gene, but her karyotype in peripheral blood lymphocytes was 45X. Patient 2 had a mosaic karyotype, 45X/46X, dic (Y:Y) (p11.3:p11.2), and the proportion of Y-bearing cells was 50% in peripheral blood lymphocytes, but the patient had normal female external genitalia and streaky gonads, with no genital virilism. Different tissues in the same TS individual may exhibit different ratios of mosaicism. The gonadal determination and differentiation of mosaic TS are primarily dependent on the predominant cell line in the gonads. CONCLUSIONIn TS patients with virilization, it is necessary to test at least two to three tissues to search for cryptic Y material.     

神经肌肉电刺激结合功能训练改善脑卒中后吞咽障碍的临床疗效观察

目的观察神经肌肉电刺激结合功能训练治疗脑卒中后吞咽障碍的临床疗效。方法将60例脑卒中后吞咽障碍患者随机分为神经肌肉电刺激治疗组（电刺激组）20例、冰刺激治疗组（冰刺激组）20例和单纯药物治疗组（药物组）20例，3组患者均接受常规药物治疗和肢体功能运动训练，电刺激组患者同时应用VitalStim电刺激仪给予神经肌肉电刺激治疗并进行口一颜面肌功能训练，冰刺激组同时用冰棉签刺激其咽部并进行口一颜面肌功能训练。采用标准吞咽功能评估（SSA）和血氧饱和度（SaO2）测定评定患者治疗前、后的吞咽情况。结果3组患者治疗前的SSA评分和SaO2降低值比较，差异均无统计学意义（P〉0．05）；治疗后，电刺激组和冰刺激组SSA评分和SaO2降低值均较治疗前明显下降，差异有统计学意义（P〈0．05），且电刺激组SSA评分和SaO2降低值均较冰刺激组下降更为明显，2组比较差异有统计学意义（P〈0．05）。结论神经肌肉电刺激或冰刺激结合功能训练均可改善脑卒中后吞咽障碍患者的吞咽功能，且神经肌肉电刺激治疗的临床效果优于冰刺激。     

Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports

BACKGROUND Crumbs homolog 2 (CRB2) is a recently discovered gene that is closely related to the maintenance of normal polarity in podocytes; mutations can directly lead to steroid-resistant nephrotic syndrome (SRNS). However, the characteristics of nephrotic syndrome (NS) caused by CRB2 mutations have not been described.CASE SUMMARYWe report a novel compound heterozygous mutation of the CRB2 gene in two siblings with SRNS. The two siblings had edema, proteinuria, hypoproteinemia and hyperlipidemia. Both their father and mother had normal phenotypes (no history of NS). Whole exon sequencing (WES) of the family showed a novel compound heterozygous mutation, c.2290 (exon 8) C > T and c.3613 (exon 12) G > A. Glucocorticoid therapy (methylprednisolone pulse therapy or oral prednisone) and immunosuppressive agents (tacrolimus) had no effect. During a 3-year follow-up after genetic diagnosis by WES, proteinuria persisted, but the patient was healthy.CONCLUSION CRB2 mutations related to SRNS often occur in exons 7, 10, and 12. Clinical manifestations of SRNS caused by CRB2 mutations are often less severe than in other forms of SRNS.     

神经肌肉电刺激对脑卒中后吞咽障碍患者吞咽功能及生活质量的影响

目的：探讨吞咽神经和肌肉电刺激对脑卒中后吞咽障碍患者吞咽功能及生活质量的影响。方法：选取脑卒中后吞咽障碍患者126例作为研究对象,将其随机分为观察组和对照组各63例,对照组给予常规吞咽功能训练,观察组在对照组基础上给予吞咽神经和肌肉电刺激,治疗2周后对两组患者的吞咽功能及生活质量进行比较。结果：与治疗前比较,治疗后两组患者洼田饮水试验评分均有不同程度下降,且观察组明显低于对照组（P＜0.05）;两组患者电视透视检查（VFSS）评分及总分均有不同程度的升高,且观察组明显高于对照组（P＜0.05）;两组患者生存质量各个维度评分及总分均有不同程度升高,且观察组明显高于对照组（P＜0.05）;观察组患者治疗总有效率高于对照组（P＜0.05）。结论:吞咽神经和肌肉电刺激可有效促进脑卒中吞咽功能障碍患者吞咽功能恢复,提高其生活质量。     

Diagnostic value of bone marrow cell morphology in visceral leishmaniasis-associated hemophagocytic syndrome: Two case reports

BACKGROUNDVisceral leishmaniasis related-hemophagocytic lymphohistiocytosis (VL-HLH) is a hemophagocytic syndrome caused by Leishmania infection. VL-HLH is rare, especially in nonendemic areas where the disease is severe, and mortality rates are high. The key to diagnosing VL-HLH is to find the pathogen; therefore, the Leishmania must be accurately identified for timely clinical treatment.CASE SUMMARYWe retrospectively analyzed the clinical data, laboratory examination results, and bone marrow cell morphology of two children with VL-HLH diagnosed via bone marrow cell morphology at Kunming Children’s Hospital of Yunnan, China. Both cases suspected of having malignant tumors at other hospitals and who were unresponsive to treatment were transferred to Kunming Children’s Hospital. They are Han Chinese girls, one was 2 years old and the other one is 9 mo old. They had repeated fevers, pancytopenia, hepatosplenomegaly, hypertriglyceridemia, and hypofibrinogenemia over a long period and met the HLH-2004 criteria. Their HLH genetic test results were negative. Both children underwent chemotherapy as per the HLH-2004 chemotherapy regimen, but it was ineffective and accompanied by serious infections. We found Leishmania amastigotes in their bone marrow via morphological examination of their bone marrow cells, which showed hemophagocytic cells; thus, the children were diagnosed with VL-HLH. After being transferred to a specialty hospital for treatment, the condition was well-controlled.CONCLUSIONMorphological examination of bone marrow cells plays an important role in diagnosing VL-HLH. When clinically diagnosing secondary HLH, VL-HLH should be considered in addition to common pathogens, especially in patients for whom HLH-2004 chemotherapy regimens are ineffective. For infants and young children, bone marrow cytology examinations should be performed several times and as early as possible to find the pathogens to reduce potential misdiagnoses.     

Special type of Wernekink syndrome in midbrain infarction: Four case reports

BACKGROUNDWernekink commissural syndrome (WCS) is a distinct midbrain syndrome that involves the caudal tegmentum of the midbrain and selectively damages the Wernekink commissure involved in the decussation of the superior cerebellar peduncle in midbrain. The aim of the study was to explore the clinical manifestations, imaging characteristics, and differential diagnosis of WCS in midbrain infarction to provide reference for clinicians in the diagnosis of WCS.CASE SUMMARYThe clinical data of 4 patients with WCS with midbrain infarction were analyzed retrospectively. WCS is a rare syndrome that can be diagnosed based on its characteristic symptoms and imaging findings of magnetic resonance imaging. CONCLUSIONClinicians should look for this syndrome in cases of bilateral cerebellar dysfunction and eye movement disorders.     

Treatment of gastric cancer with dermatomyositis as the initial symptom: Two case reports and review of literature

BACKGROUNDDermatomyositis (DM) is a rare autoimmune disease involving the connective tissue. The association between DM and gastric cancer remains unclear. Patients with DM have an increased risk of cancer and higher mortality. It requires immunosuppressive therapy, heightened surveillance, and immunologic response to internal malignancy.CASE SUMMARYTwo cases of gastric cancer with DM as the first symptom in Zhongshan Hospital, Fudan University (Shanghai, China) were reported. Two patients had a typical skin rash. The rash in the first patient involved mainly bilateral upper limbs and neck, while the second patient manifested rash associated mainly with the face, neck, and back. Both manifested muscle weakness in the extremities and elevated serum creatine kinase. Radical resection of the tumor dramatically improved DM-related symptoms in the two patients. The literature review showed that gastric cancer is more commonly associated with DM in middle-aged and older male populations.CONCLUSIONThe findings suggest the need for comprehensive screening for malignant tumors in patients with DM refractory to long-term pharmacotherapy or hormone manipulation.     

Combining transcranial direct current stimulation and peripheral electrical stimulation to improve upper limb function in a patient with acute central cord syndrome: a case report

We report the immediate improvement of weakened muscles after combined treatment with transcranial direct current stimulation (tDCS) and peripheral electrical stimulation (PES) in a patient with acute central cord syndrome (CCS) who presented with severe upper limb motor dysfunction. A 70-year-old man sustained CCS with severe motor deficits in the left upper limb, which did not improve with conventional training until 6 days after injury. On the seventh day after the injury, the left upper limb was targeted with combined tDCS (1 mA for 20 minutes/day, anode on the right, cathode on the left) and PES (deltoid and wrist extensors, 20 minutes/day at the motor threshold), and his performance score immediately improved from 0 to 6 on the Box and Block test. After four sessions, the left upper limb function improved to 32 on the Box and Block test, and manual muscle test scores of the stimulated deltoid and wrist extensors improved from 1 to 2. This improvement of the left upper limb led to improved self-care activities such as eating and changing clothes. Exercise combined with tDCS and PES may be a novel treatment for upper limb movement deficits after acute CCS.     

Uterine rupture in patients with a history of multiple curettages: Two case reports

BACKGROUNDUterine rupture is a serious obstetric emergency, a severe event, and a serious threat to maternal and fetal life. It is a rare and not well characterized by the fact that multiple operations of uterine cavities contribute to uterine rupture during pregnancy. Atypical uterine rupture is easily misdiagnosed as other obstetric or surgical diseases. In current guidelines, abdominocentesis is a contraindication for late pregnancy. Therefore, the cases presented in this report provide new ideas for clinical diagnosis and treatment of uterine rupture.CASE SUMMARYCase 1, a 34-year-old woman (gravida 5, para 2), 32 wk and 4 d of gestation, presented with acute upper abdominal pain for 8 h with nausea and vomiting. Computed tomography (CT) revealed pelvic and abdominal effusion. We extracted 3 mL unclotted blood from her abdominal cavity. An emergency caesarean section was performed. A uterine rupture was found, and the fimbrial portion of the left fallopian tube was completely adhered to the rupture. The prognosis of both the mother and the infant was good. Case 2, a 39-year-old woman (gravida 10, para 1) at 34 wk and 3 d of gestation complained of persistent lower abdominal pain for half a day. Her vital signs were normal. CT revealed a high probability of pelvic and abdominal hemoperitoneum. We extracted 4 mL dark red blood without coagulation. An emergency laparotomy was performed. Uterine rupture was identified during the operation. Postoperative course in both the mother and infant was uneventful.CONCLUSIONFor pregnant women in the second or the third trimester with persistent abdominal pain, abdominal effusion, fetal distress and even fetal death, the possibility of uterine rupture should be highly suspected. CT can identify acute abdominal surgical or gynecological and obstetric diseases. Abdominocentesis is helpful for diagnosing and clarifying the nature of effusion, but its clinical value need to be confirmed by further clinical studies.     

Prolonged use of bedaquiline in two patients with pulmonary extensively drug-resistant tuberculosis: Two case reports

BACKGROUNDBedaquiline is among the prioritized drugs recommended by the World Health Organization for the treatment of extensively drug-resistant tuberculosis (XDR-TB). Many patients have not achieved better clinical improvement after bedaquiline is stopped at 24 wk. However, there is no recommendation or guideline on bedaquiline administration beyond 24 wk, which is an important consideration when balancing the benefit of prognosis for XDR-TB against the uncertain safety concerning the newer antibiotics. CASE SUMMARYThis paper reported 2 patients with XDR-TB (a female of 58 years of age and a female of 18 years of age) who received bedaquiline for 36 wk, as local experience to be shared. The 2 cases had negative cultures after 24 wk of treatment, but lung imaging was still positive. After discussion among experts, the consensus was made to bedaquiline prolongation by another 12 wk. The 36-wk prolonged use of bedaquiline in both cases achieved a favorable response without increasing the risk of cardiac events or new safety signals.CONCLUSIONLonger regimen, including 36-wk bedaquiline treatment, might be an option for patients with XDR-TB. More studies are needed to explore the effectiveness and safety of prolonged use of bedaquiline for 36 wk vs standard 24 wk in the treatment of multidrug-resistant/XDR-TB or to investigate further the biomarkers and criteria indicative for extension of bedaquline to facilitate clinical use of this novel drug.     

延髓背外侧综合征所致吞咽障碍的特点及相关机制

目的观察延髓背外侧综合征造成机体吞咽障碍的特点，并探讨其相关机制。方法采取横断面方式研究，对12例延髓背外侧综合征患者的吞咽功能进行临床评估及电视透视检查，观察其临床表现及电视透视下吞咽生理改变特点；同时记录患者出院及随访3个月时的吞咽功能恢复情况。结果12例患者临床吞咽障碍包括饮水、进食咽下困难、咳嗽及清嗓动作，急性期不能经口进食，需要鼻饲摄入营养；口期吞咽损伤者7例，仅表现为软腭上抬减弱，剩余患者未见明显口期损伤；12例患者咽期均有明显异常，10例患者喉上提幅度降低及无效吞咽，8例患者吞咽启动延迟。电视透视检查显示，患者口期吞咽均未见明显损伤，9例患者喉结构上抬幅度明显减弱，10例患者环咽肌打开不能，2例患者打开不全，12例患者喉穿透等。经系统吞咽康复治疗后，共有11例患者经平均治疗36d（13～50d）后拔除鼻饲导管恢复经口进食；3个月后饮食习惯与发病前一致。本研究中，病史为3年的患者经治疗后未能恢复经口进食。结论延髓背外侧综合征造成的吞咽困难多数（9／12）以喉上提明显减弱为主要特征，致使环咽肌打开不全／不能；少数患者（3／12）以环咽肌顺应性降低为主要特征，喉上提幅度尚充分。延髓背外侧综合征患者经早期康复治疗可获得良好预后，如延误治疗时机则疗效欠佳。