Journal of International Medical Research最新文献

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the MECP2 gene, potentially disrupting lipid metabolism and leading to dyslipidemia (DLD) and steatotic liver disease (SLD). Although SLD has been described in RTT mouse models, it remains undocumented in humans. We herein describe a 24-year-old woman with RTT who was evaluated for abnormal liver enzymes. Imaging revealed hepatic steatosis, and transient elastography showed a controlled attenuation parameter of 342 dB/m and stiffness of 7.1 kPa. Laboratory investigations excluded secondary causes, including insulin resistance, metabolic syndrome, alcohol use, and new medications. Her Homeostatic Model Assessment for Insulin Resistance score was 1.8, her hemoglobin A1c concentration was 4.8%, and her lipid profile showed elevated triglycerides and low-density lipoprotein, consistent with DLD. Liver biopsy confirmed SLD. This case supports the hypothesis that MECP2 mutations in RTT disrupt lipid metabolism through a unique pathophysiologic mechanism, increasing the risk of DLD and SLD independently of traditional metabolic syndrome factors. It highlights the importance of early screening for liver disease in patients with RTT, despite their young age, to prevent complications. Additionally, it validates MECP2-null mouse models as reliable tools for investigating future therapeutic strategies in RTT.

Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure. During the treatment process, her response was limited, and her recovery was slow. A subsequent head computed tomography (CT) scan showed abnormalities consistent with the diagnosis of comorbid DWM. We believe that this is the first reported case of a patient with SMS combined with DWM. By reporting this case, we aim to offer clinicians valuable insights into these rare diseases and provide a framework for future clinical diagnosis and treatment.

We report the case of a woman in her early 30 s who was diagnosed with Robert's uterus. She had been experiencing progressive dysmenorrhea for a decade and sought treatment for infertility at our hospital. Preoperative ultrasound imaging resulted in a misdiagnosis of a complete uterine septum with an accompanying ovarian cyst. However, intraoperative ultrasound-guided laparoscopy and hysteroscopy confirmed the presence of an asymmetric mediastinal uterus with a blind cavity, consistent with Robert's uterus, along with endometriosis. We performed a combined hysteroscopy and laparoscopy to excise the septum and endometrial cyst in the uterine cavity, and we inserted a uterine cavity stent to prevent postoperative intrauterine adhesions. Subsequent evaluations confirmed the success of the surgical and postoperative treatment strategies. The findings in this case suggest that despite the risk of a misdiagnosis before surgery, accurate assessment and effective surgical intervention for Robert's uterus can be achieved by the combined application of hysteroscopy and laparoscopy, with guidance by ultrasound. Furthermore, our findings highlight the importance of addressing concurrent conditions in the management of Robert's uterus.

Objective: In patients with primary hypertension (PH), left ventricular hypertrophy (LVH) is a critical predictor of cardiovascular events. We aimed to identify clinical and laboratory predictors of LVH in patients with PH.

Methods: This retrospective cohort study included 2321 patients with PH at the Fifth Affiliated Hospital of Xinjiang Medical University from December 2022 to January 2024. Patients were classified into LVH and non-LVH groups; LVH was defined as left ventricular mass index (LVMI) >115 g/m² for men and >95 g/m² for women. Univariate and multivariate logistic analysis were used to identify risk factors for LVH.

Results: Univariate analysis revealed significant differences between the LVH and non-LVH groups in age, sex, smoking, systolic blood pressure (SBP), neutrophil-to-lymphocyte ratio (NLR), body mass index, serum creatinine (SCr), lymphocyte count, and hypertension duration. Multivariate analysis identified age, sex, SBP, SCr, and NLR as independent risk factors for LVH. A combined receiver operating characteristic (ROC) model had an area under the ROC curve of 0.711 (95% CI: 0.68-0.74), with 75.3% sensitivity and 59.2% specificity.

Conclusion: Age, sex, SBP, SCr, and NLR were independent predictors for LVH in patients with PH. Our combined diagnostic model provides valuable insight for early LVH screening, aiding timely clinical intervention.

Objective: To evaluate the effect of preoperative intravenous mannitol on the capsulorhexis process and intraoperative complications in patients with primary angle-closure glaucoma (PACG).

Methods: In this prospective randomized controlled trial, 65 PACG eyes were randomized into the mannitol and control groups. The capsulorhexis duration, number of forceps grasps, need for viscoelastic re-injection, and intraoperative complications were recorded.

Results: The mannitol group had a significantly shorter capsulorhexis duration and fewer forceps grasps of the capsule. All intraoperative complications (18.2%) occurred in the control group. The patients with intraoperative complications had significantly higher intraocular pressure and lower best-corrected visual acuity than those without complications after surgery. Multivariate analysis found that intravenous mannitol (odds ratio [OR] = -14.263; 95% confidence interval [CI] =-26.713 to -1.813) reduced the capsulorhexis duration, whereas zonulopathy (OR = 14.477, 95% CI = 2.622-26.331) prolonged the duration.

Conclusion: Preoperative intravenous mannitol can reduce the risk of intraoperative complications and improve postoperative outcomes in patients with PACG. Factors including anterior chamber depth, incision location and method, and the zonule status significantly influence the capsulorhexis process.

Monopolar electrocautery is usually a safe and effective technique used in laparoscopic cholecystectomy and bile duct surgery, but it may lead to adverse consequences, even ventricular fibrillation (VF). Amiodarone is an effective antiarrhythmic drug commonly used in practice to treat ventricular and atrial arrhythmias, but it may induce tachyarrhythmia or even VF. We report a case of VF occurring twice during cholecystectomy. The first VF was caused by low-frequency leakage current of the monopolar electrocautery. The second VF was due to amiodarone causing further prolongation of the corrected QT interval. By performing cardiopulmonary resuscitation and defibrillation, the patient recovered and was eventually discharged in good condition. In cholecystectomy surgery, especially when separating adhesive tissue from liver, caution should be exercised when using a monopolar electrotome, which is recommended to stop bleeding in the bipolar mode. After cardiopulmonary resuscitation, caution should be exercised when using amiodarone to prevent arrhythmia, even if prolongation of the corrected QT interval does not reach the diagnostic indicators of 470 ms for men and 480 ms for women. In addition, defibrillators should be in standby mode during the perioperative period.

Objective: To evaluate whether there is an association between maternal mental health, purchase of psychotropic drugs, socioeconomic status and major congenital anomalies in offspring.

Methods: A register-based cohort study of 6189 Finnish primiparous women who had a singleton delivery between 2009 and 2015. Data on pregnancy and delivery outcomes, psychiatric diagnosis, prescription drug purchases and offspring congenital anomalies were obtained from Finnish national registers.

Results: Severe depressive disorders were diagnosed in 2.0% of women and severe anxiety disorders in 1.1%. During pregnancy, 9.6% of women purchased psychotropic drugs. Of these women, 5.7% delivered an offspring with a major congenital anomaly. Women who purchased psychotropic drugs in pregnancy had an increased risk of delivering a child with major congenital anomalies compared with women who did not purchase psychotropic drugs. Multivariate regression analysis showed that purchase of benzodiazepines increased the risk of major congenital anomalies (odds ratio 2.11 [95% confidence interval 1.17 to 3.81]). Pregnant women purchasing psychotropic drugs more often lived alone and smoked, had higher body mass index, and had lower annual income and educational attainment than women not purchasing psychotropic drugs.

Conclusions: Benzodiazepine use, but not socioeconomic status, may be associated with major congenital abnormalities in offspring.

Uterine inversion is a rare condition that refers to the collapse of the fundus into the uterine cavity and occurs in puerperal and non-puerperal conditions. Non-puerperal uterine inversion is particularly infrequent. Diagnosing non-puerperal uterine inversion is often challenging because it resembles vaginal or cervical tumors and pelvic organ prolapse. Furthermore, this condition alters the anatomical structure of pelvic organs, thereby complicating diagnosis and treatment, and potentially leading to misdiagnosis with grave consequences. We report a case of a postmenopausal woman who presented with irregular vaginal bleeding and dysuria for 2 months. Preoperative enhanced pelvic magnetic resonance imaging suggested a benign tumor combined with uterine inversion, which was subsequently confirmed during surgery. A laparoscopic attempt to reposition the uterus failed, leading to successful repositioning via an abdominal incision and subsequent total abdominal hysterectomy with bilateral salpingo-oophorectomy. A histopathological examination showed a submucosal leiomyoma, which was smaller than that typically reported in other cases. We also conducted a review of previous cases to offer empirical guidance for the diagnosis and treatment of this rare condition.

Paraneoplastic chronic intestinal pseudo-obstruction (CIPO) is a rare manifestation associated with small cell lung carcinoma and other malignancies. In this report, we present a challenging case involving a 60-year-old man with small cell lung carcinoma who developed symptoms of intestinal pseudo-obstruction, including abdominal distention, pain, and obstipation. Despite receiving extensive treatment with intravenous gamma globulin and glucocorticoids, the patient's symptoms did not improve, ultimately resulting in irreversible nervous system damage. Through a comprehensive literature review, we explore the underlying mechanisms of paraneoplastic CIPO and discuss its diagnostic and therapeutic approaches. We emphasize the significance of timely detection of related antibodies for early diagnosis and treatment of CIPO to improve patient outcomes.

Nirmatrelvir/ritonavir is a novel drug combination authorized by the US Food and Drug Administration for the treatment of coronavirus disease 2019 (COVID-19). This report describes the case of a patient with a prior history of kidney transplantation who received nirmatrelvir/ritonavir. In this case, sirolimus use was successfully stopped before nirmatrelvir/ritonavir treatment, and the nirmatrelvir/ritonavir trough concentration was determined. During nirmatrelvir/ritonavir treatment, the sirolimus trough concentration remained stable. This case highlights the risk associated with the concomitant administration of sirolimus and nirmatrelvir/ritonavir. Providers should therefore be cautious when prescribing nirmatrelvir/ritonavir to kidney transplant recipients currently receiving sirolimus, with caution exercised based on creatinine clearance.