Volume 105 · Issue 05 · 2025

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene, affecting approximately 1 in 3 000 newborns worldwide. Plexiform neurofibroma (PNF) is one of the common clinical manifestations of NF1. PNF can lead to a range of clinical symptoms, with a high rate of disability and teratogenesis; furthermore, there is a risk for malignant transformation that poses significant threats to the life and health of patients. Currently, there is no unified standard regarding the definition, diagnosis, evaluation, monitoring, or treatment strategies for PNF. In order to further standardize the clinical diagnosis and treatment of PNF, initiated by the Group of Neurofibromatosis, Plastic and Reconstructive Surgery Society of Chinese Medical Association, the experts and scholars from various disciplines within the NF1 field across China were organized. Finally, based on existing evidence-based medicine evidence, a total of 18 recommendations have been proposed for the diagnosis, screening, surgical treatment, pharmacological treatment, disease monitoring, as well as patient education and psychological support related to PNF, aiming to serve as a reference for the standardized clinical diagnosis and treatment of PNF.

Neurobrucellosis is a neurological disorder caused by Brucella infection. It typically occurs as part of the multisystem involvement of brucellosis, or may also present as brucellosis. The existing clinical practice guidelines and expert consensus on human brucellosis are outdated and provide limited guidance specific to the diagnosis and management of neurobrucellosis, failing to meet the evolving needs of healthcare providers and patients. To comprehensively improve the diagnostic and therapeutic capabilities for neurobrucellosis in China, as well as to standardize clinical practice of diagnosis and treatment for neurobrucellosis, the Tuberculous Meningitis Subcommittee of the Tuberculosis Branch of the Chinese Medical Association established the Expert Consensus Development Working Group for Neurobrucellosis. Following rigorous methodologies for clinical practice guideline and consensus formulation, Expert consensus on the diagnosis and treatment of neurobrucellosis (2025 edition) was developed. This consensus outlines 12 recommendations in 9 aspects: epidemiological history, clinical manifestations, cerebrospinal fluid analysis, immunological testing, pathogen identification, imaging and electrophysiological assessments, diagnosis and differential diagnosis, therapeutic strategies, and prognostic evaluation. Based on these recommendations, the diagnostic criteria and diagnosis and treatment process for Chinese neuroblastoma have been developed.

To explore the changes and significance of resolvin D1 (RvD1) in the treatment of systemic lupus erythematosus (SLE) with Belimumab.

The clinical data from patients with moderate to severe disease activity SLE who received oral stable doses of glucocorticoids (≤10 mg/d) and/or immunosuppressants for more than 3 months at the outpatient or inpatient department of the First Affiliated Hospital of Soochow University from January 2022 to November, 2023 were retrospectively collected. All patients were treated with 10 mg/kg intravenous infusion of Belimumab. The medication was administered once on the 1st, 15th, and 29th days, and then every 4 weeks for a total of 24 weeks and 8 doses. Peripheral blood plasma before and after treatment were collected, and RvD1 levels before and after treatment were detected using enzyme-linked immunosorbent assay (ELISA). According to the guidelines, SLE patients were divided into kidney involvement group and kidney non-involvement group; the patients were further divided into a blood system involvement group and a blood system non-involvement group; according to the SLE Disease Activity Index (SLEDAI), the patients were divided into moderate activity group and severe activity group. After 24 weeks of treatment, the patients were divided into complete remission group, low disease activity group, and no remission group according the treatment effects. The changes in plasma RvD1 levels in each group before and after treatment with Belimumab were analyzed, and their correlation with various activity indicators of SLE was checked too.

A total of 81 patients were included, of which 15 were male and 66 were female, with an average age of (33.14±8.27) years. At baseline, plasma RvD1 levels in SLE patients were negatively correlated with SLEDAI scores (r=-0.642, P<0.001) and anti dsDNA antibody levels (r=-0.623, P=0.012). There was no significant difference in plasma RvD1 level [M(Q₁, Q₃)] between SLE patients with renal involvement (n=50) and those without renal involvement (n=31) [73.27 (45.16, 122.12) ng/L vs 58.32 (32.29, 94.33) ng/L, P=0.365]. There was no significant difference in plasma RvD1 level between SLE patients with hematological involvement (n=40) and those without hematological involvement (n=41) [74.78 (47.01, 121.67) ng/L vs 42.88 (30.05, 76.76) ng/L, P=0.277]. The plasma RvD1 level in the moderate activity group (n=51) was significantly higher than that in the severe activity group (n=30) [104.76 (65.65, 135.34) ng/L vs 55.86 (37.53, 81.35) ng/L, P=0.002]. After 24 weeks of treatment with Belimumab, plasma RvD1 levels in the complete remission group (n=10) were both significantly higher than those in the low disease activity group (n=61) and the non-remission group (n=10) [196.48 (123.08, 236.33) ng/L vs 98.87 (63.35, 110.23) ng/L and 77.68 (41.73, 128.55) ng/L, respectively, P=0.001]. After the treatment, the plasma RvD1 levels in both the complete remission group and the low disease activity group increased significantly when compared to those before the treatment [98.23 (40.45, 107.19) ng/L vs 176.48 (123.08, 226.33) ng/L and 65.27 (31.76, 94.35) ng/L vs 98.87 (63.35, 110.23) ng/L, both P<0.05]. Further analysis revealed that all the patients of complete remission group after treatment were from the moderate disease activity group before treatment, and the plasma RvD1 level in the complete remission group was significantly higher than that in the low disease activity group before the treatment [98.23 (40.45, 127.19) vs 65.27 (31.76, 94.35) ng/L] (P=0.022).

The plasma RvD1 level significantly increased after treatment with Belimumab in SLE patients, patients with higher plasma RvD1 level before treatment have better efficacy with Belimumab.

To investigate the efficacy of dual kidney transplantation (DKT) from adult donors.

Clinical data of adult DKT donors and recipients in the Institute of Organ Transplantation, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from March 2015 to June 2024 were retrospectively analyzed. The patients were followed up until September 2024. The clinical data of donor and recipient, donor kidney, surgical techniques, complications, and follow-up were collected. Transplant renal function and recipient/graft survival rates within 5 years were analyzed.

A total of 102 pairs of DKT donors and recipients were included. Among the donors, 83 were male and 19 were female, with age of (57.8±11.1) years and body mass index (BMI) of (23.1±3.2) kg/m². Among the recipients, 95 were male and 7 were female, with age of (42.0±11.0) years and BMI of (22.1±3.1) kg/m². The postoperative hospitalization and follow-up duration [M (Q₁, Q₃)] for recipients were [20.0 (15.0, 27.0)] days and [30.0 (12.5, 49.0)] months, respectively. China Class Ⅱ donation accounted for 64.7% (66/102) of donor categories. The pre-procurement serum creatinine (Scr) level of donors was [97.0 (66.5, 144.5)] μmol/L, and the hypothermic machine perfusion utilization rate was 52% (53/102). The warm ischemia time was (5.5±1.7) minutes, and the mean cold ischemia time was (8.7±3.8) hours. The Remuzzi scores for the left and right kidneys before transplantation were (4.8±1.3) and (5.1±1.4) scores, respectively. The glomerulosclerosis rates for the left and right kidneys were 34.0%±16.2% and 35.3%±16.7%, respectively. The primary nephropathy was unknown in 80.3% (82/102) of recipients, and IgA nephropathy was diagnosed in 8.8% (9/102) of the recipients. Bilateral kidneys were implanted ipsilaterally in 94.1% (96/102) of recipients, with operative time of (5.3±1.4) hours. Lymphocyte-depleting induction therapy was administered to 74.5% (76/102) of recipients. One recipient experienced primary graft non-function after surgery. The incidences of delayed graft function and rejection were 30.4% (31/102) and 9.8% (10/102), respectively. The overall incidence of surgical complications was 10.8% (11/102). The 1, 3, and 5-year recipient survival rates were 100.0%, 98.3%, and 98.3%, respectively. The 1, 3, and 6-month and 1, 3, and 5-year graft survival rates were 97.1%, 96.1%, 95.0%, and 94.0%, 89.3%, 85.6%, respectively. The recipient′s kidney function remains stable for 5 years after transplantation. At 5 years, the recipient median Scr level and mean estimated glomerular filtration rate (eGFR) were 153.0 (120.0, 232.0) μmol/L and (42.1±17.1) ml^-1·min^-1·(1.73 m²)^-1, respectively.

Adult donor DKT demonstrates favorable short-term and 5-year clinical efficacy.

To investigate the changes in thyroid morphology and function in mice with thyroid-specific knockout of the clock gene Bmal1 under high-fat diet (HFD), and to examine its effects on glycolipid metabolism in mice.

Construct a mouse model with specific knockout of the Bmal1 gene in the thyroid (T-Bmal1^-/-) (knockout group, n=10), and use Bmal1^flox/flox mice without thyroid peroxidase-cyclization recombination enzyme (T-Bmal1^+/+) as the control group (non-knockout group, n=10). The mice were fed until 6 weeks (body weight 20-23 g), and then use the random number table method to evenly divide each group of mice into two subgroups. They were then fed either with normal diet (ND) or (HFD), resulting in four final groups: ND non-knockout group, HFD non-knockout group, ND knockout group, and HFD knockout group, with 5 mice in each group. From the 6th week onwards, the body weights of the mice were measured for 10 consecutive weeks. On the first day of the 14th week, the intraperitoneal glucose tolerance test (IPGTT) was conducted, and on the first day of the 15th week, the intraperitoneal insulin tolerance test (IPITT) was performed. On the first day of the 16th week after the mice were born, blood samples (0.2 ml) were taken from the eyes under anesthesia at 7∶00, 13:00, 19:00, and 1∶00 the next day, and the thyroid, liver, kidneys, spleen, inguinal white adipose tissue, and scapular brown adipose tissue were rapidly removed. Thyroid tissue morphology, thyroid function indexes, thyroid clock genes and thyroid hormone synthesis and secretion related genes expression, body weight, IPGTT and IPITT area under the curve (AUC) and lipid levels were detected and compared among all groups.

There was no significant difference in the number of thyroid follicles, the area of thyroid follicles and the height of thyroid follicle cavity between ND knockout group and ND non-knockout group (all P>0.05), but the height of thyroid follicle cavity in HFD knockout group was lower than that in HFD knockout group [(25.8±1.6) vs (54.4±9.5) μm, P=0.002]. The level of serum T4 in knockout group after ND or HFD feeding was higher than that in non-knockout group (all P<0.05). There was no significant difference in the mRNA expression level of sodium iodine transporter between ND knockout group and ND non-knockout group (P=0.550), but the mRNA expression level of sodium iodine transporter in HFD knockout group was higher than that in HFD non-knockout group [0.67±0.27 vs 0.20±0.09, P=0.006].There was no significant difference in weight gain and groin white fat weight between ND knockout group and ND non-knockout group (both P>0.05), but weight gain and groin white fat tissue weight in HFD knockout group were lower than those in HFD knockout group (both P<0.05). The IPGTT results showed no statistically significant difference in AUC between the ND knockout and ND non-knockout groups (P=0.226), but the HFD knockout group had a smaller AUC than the HFD non-knockout group (P=0.008). The IPITT revealed that the AUC of the ND knockout group was smaller than that of the ND non-knockout group (P=0.047). Lipid profiles were similar between the ND knockout and ND non-knockout groups (all P>0.05), but the HFD knockout group had lower levels of total cholesterol and high-density lipoprotein cholesterol than the HFD non-knockout group (both P<0.05).

Thyroid-specific knockout of the clock gene Bmal1 can affect thyroid hormone levels and glycolipid metabolism in mice, with more pronounced effects after HFD feeding.

To investigate the effects of long non-coding RNA KLHL7-AS1 (LncRNA KLHL7-AS1) on the proliferation and apoptosis of nucleus pulposus cells under oxidative stress and its mechanisms.

Human nucleus pulposus cells (HUM-iCell-s012) were divided into 4 groups, and unoxidized nucleus pulposus cells were transfected with an empty pcDNA vector (pcDNA-control) to serve as the blank control group. Based on previous studies on oxidative stress-induced nucleus pulposus cell senescence and preliminary experiments, oxidative stress was induced by treating nucleus pulposus cells with 400 μmol/L H₂O₂. Oxidized nucleus pulposus cells were transfected with pcDNA-control, KLHL7-AS1 interfering RNA (siRNA-KLHL7-AS1), or KLHL7-AS1 overexpression plasmid (pcDNA-KLHL7-AS1), forming the model control group (H₂O₂+pcDNA-control), the model silencing group (H₂O₂+siRNA-KLHL7-AS1), and the model overexpression group (H₂O₂+pcDNA-KLHL7-AS1), respectively. Following these treatments, KLHL7-AS1 expression levels, cell proliferation, cell apoptosis were measured and compared among the groups, and the expression levels of B-cell lymphoma 2 (BCL-2) and BCL-2-associated X protein (BAX) in the groups of cells were compared too (n=3).

The expression of KLHL7-AS1 in the model control group was significantly higher than that in the blank control group (7.716±0.851 vs 0.996±0.086, P<0.001). Furthermore, the expression of KLHL7-AS1 in the model overexpression group was markedly higher than that in the model silencing group (19.592±1.747 vs 4.222±0.039, P<0.001). Compared to the blank control group, the model silencing group showed no significant change in cell viability (0.125±0.006 vs 0.127±0.010, P=0.390), an increased apoptosis rate (17.2%±1.7% vs 11.5%±1.0%, P<0.05), elevated BCL-2 protein expression (0.897±0.025 vs 0.730±0.026, P<0.05), and reduced BAX protein expression (0.250±0.030 vs 0.523±0.015, P<0.05). In comparison to the model control group, the model silencing group exhibited increased cell viability (0.125±0.006 vs 0.076±0.008), reduced apoptosis rates (17.2%±1.7% vs 30.7%±2.3%), elevated BCL-2 protein expression (0.730±0.026 vs 0.440±0.036), and decreased BAX protein expression (0.523±0.015 vs 0.723±0.021) (all P<0.001). In comparison to the model silencing group, the model overexpression group showed reduced cell viability (0.125±0.006 vs 0.039±0.006), increased apoptosis rates (43.1%±1.9% vs 17.2%±1.7%), decreased BCL-2 protein expression (0.227±0.021 vs 0.730±0.026), and increased BAX protein expression (1.147±0.035 vs 0.523±0.015) (all P<0.001).

Downregulation of KLHL7-AS1 expression promotes the proliferation of nucleus pulposus cells and inhibits their apoptosis, it may involve the regulation of BCL-2 and BAX protein synthesis, potentially delays the progression of intervertebral disc degeneration.

A total of 7 patients with type 1 infratentorial superficial siderosis(iSS-1)in Memory Clinic at Huashan Hospital, Fudan University from March 2019 to March 2023 were respectively collected to analyze the clinical characteristics and treatment, and followed up for 12 months. There were 7 patients, 2 males and 5 females, aged 56 (49-60) years. The 4 patients who underwent cognitive assessment had varying degree of cognitive impairment, with 2 patients exhibiting severe executive function impairment. Magnetic resonance myelography imaging was used to screen the etiology of iSS-1 patients. Four patients had clear dural defects, 3 of whom accepted autologous blood patch treatment. And all 3 patients were relieved from postural headache and dizziness within 3 months after treatment; symptoms such as hearing loss, unstable walking, ataxia and cognitive impairment remained stable, and 1 patient showed significant improvement in cognitive assessment scores. The efficacy and safety of autologous blood patch treatment still need to be further confirmed by RCT studies of expanded samples.

To explore the safety of application of ambulatory surgery management mode in total laparoscopic ileostomy reversal surgery. A retrospective analysis of clinical data was conducted on patients who had undergone total laparoscopic ileostomy reversal surgery at the First Affiliated Hospital of China Medical University from May 1, 2023, to March 31, 2024. A total of 34 patients were included in the study, comprising 22 males and 12 females, with the age of (60.6±12.4) years. They were divided into ambulatory laparoscopic surgery group (n=13) and original laparoscopic surgery group (n=21) according to the perioperative management mode. No statistically significant differences were observed between the two groups in terms of operative time, intraoperative blood loss and the time to first flatus after surgery (all P>0.05). The ambulatory surgery group experienced no complications, while the original surgery group encountered 2 cases of complications (1 case of incision infection and 1 case of intestinal obstruction), and there was no significant difference in the incidence of complications between the two groups [0 vs 9.5%(2/21), P=0.211]. It is safe to perform total laparoscopic ileostomy reversal surgery under ambulatory surgery mode.

This paper reports a 17-year-old female patient with hyperandrogenemia as the main clinical manifestation. Physical examination showed scattered facial acne, small whiskers on the lips, increased vellus hair, and increased testosterone level in laboratory. Gynecological ultrasound and enhanced abdominopelvic CT examination showed right ovary occupying space, and thyroid nodules in thyroid ultrasound. Laparoscopic right adnexectomy was performed and pathology showed ovarian sertoli-mesenchymal cell tumor. The whole exon gene detection result was DICER1: NM_177438.3: exon23: c.5032A>T: p.K1678* variant. The serum testosterone level decreased to 1.77 nmol/L and menstrual cramps resumed after 3 months of follow-up. Sertoli-mesenchymal cell tumors of ovary need to be highly vigilant against DICER1 germline mutations, screening for other related tumors, and performing genetic testing to confirm the diagnosis if necessary.

The patient, a 7-day-old girl, was admitted to Guangdong Provincial People's Hospital on June 1, 2024 due to "shortness of breath for 7 days and systemic edema for 1 day". The child was born with asphyxia, hypoglycemia and hypocalcemia. Diabetic mother-infant syndrome was considered at admission. The child developed severe malfeeding during hospitalization, and cardiac ultrasound revealed severe left ventricular outflow tract stenosis, myocardial hypertrophy, and continuous aggravation. Human exome + mitochondrial genome testing revealed heterozygous variants at the c.1528C>G (p.G1n510G1u) locus of PTPN11 gene, and diagnosed as diabetic mother-infant syndrome with Noonan syndrome. By using rapamycin to delay the progression of myocardial hypertrophy, the child was successfully discharged from hospital.

Epilepsy is a common chronic neurological disease. Existing anti-epileptic seizure drugs (ASMs) are mainly anti-epileptic seizures, but cannot prevent the occurrence and development of epilepsy pathology. Therefore, it is an important strategy for epilepsy prevention and treatment to find new targets and mechanisms for the occurrence and development of epilepsy pathology, and realize the transformation from anti-epileptic seizures to anti-epileptic occurrence (AEG) and disease modification therapy (DMT). It is also an important goal of future clinical and preclinical research. Recent studies have found that NADPH oxidase (NOX) may be the main source of reactive oxygen species (ROS) production in the nervous system, further aggravating neuronal damage and accelerating the occurrence and development of epilepsy pathology. This review emphasizes the role of NOX in the pathogenesis and development of epilepsy, and that polyphenol compounds prevent the pathogenesis and development of epilepsy by inhibiting NOX, which provides new ideas for disease-modifying treatment of epilepsy.

Medical quality (safety) adverse events refer to the harm to the patient's health caused by medical intervention, rather than the patient's own disease. The statistical methods of adverse events have their own advantages and disadvantages. At present, the gold standards for statistics are medical record review [including comprehensive trigger tool (GTT)] and prospective clinical surveillance (PCS). Compared with other countries, the incidence of adverse events in our country is significantly lower. This review is mainly based on foreign research results in the field of medical safety, and discusses the background and related concepts of medical adverse events research, statistical methods of medical adverse events, difficulties faced by medical adverse events statistics, and the current situation of medical adverse events statistics in China. On this basis, it puts forward specific measures and suggestions to improve the current situation of medical adverse events statistics in China, so as to promote medical safety.

The patient was a 32-year-old female, Han nationality. He was admitted to Linyi Maternal and Child Health Hospital (the First Affiliated Hospital of Shandong Medical College) due to "repeated dizziness for more than 10 years and 2 days again". Past history: history of repeated "urinary tract infections"; Deny history of hypertension and diabetes; Family history denied. Physical examination and laboratory tests showed no significant abnormalities. Cranial MR: No normal MCA shape was seen in the running area of the right middle cerebral artery (MCA), and there were multiple tortuous plexiform small vessels (Figure 1); There were no abnormalities in the left internal carotid artery and MCA (Figure 2). DSA: The main trunk of M1 segment of right MCA was replaced by plexiform and reticular small vessels, and the distal vessels of M2 segment were roughly normal (Figure 3), and no extracranial-intracranial compensated blood supply was observed; There were no abnormalities in the left internal carotid artery and MCA, and the anterior communicating artery was open. According to young women, cerebral angiography showed: (1) right MCA occlusion; (2) The proximal end of right M1 is replaced by a plexiform vascular network, and the abnormal blood vessel is located in the subarachnoid space and runs parallel to M1; (3) The lenticulostriate artery originates from the plexiform vascular network; (4) The M2 segment is roughly normal in the form of distal vessels, with anterior blood flow and normal cortical branches; (5) The blood flow at the distal end of MCA is reduced, the anterior cerebral artery and posterior cerebral artery are compensated by meningeal branches, and there are no extracranial-intracranial collaterals. Diagnosis: shoot-like/reticular MCA (grade II). There were no changes in 2-year MRA follow-up and no cerebrovascular events. Shoot-like/reticular MCA is rare, and it is important to differentiate shoot-like/reticular MCA from moyamoya disease (MMD) when occlusive changes in MCA are found on MRA and CTA, or abnormal compensatory vessels are found on DSA, so as to avoid unnecessary interventional or surgical treatment.