Adenoid cystic carcinoma is a malignant tumor of the head and neck, this article reports a case of a large adenoid cystic carcinoma of the skull base, with the lesion involving the sphenoid sinus, sphenoid bone wings, pterygopalatine fossa, nfratemporal fossa, hard palate, and other structures. The treatment plan consisted of surgical excision, primary reconstrction of the surgical defect,and postoperative radiotherapy, resulting in a favorable prognosis for the patient.
Humans ; Carcinoma, Adenoid Cystic/surgery* ; Maxillary Sinus/surgery* ; Maxillary Sinus Neoplasms/surgery* ; Palate, Hard/surgery* ; Skull Base Neoplasms/surgery* ; Surgical Flaps

Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.

Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.

Objective:To analyze the distribution characteristics of special types of diabetes in China, in order to provide a theoretical basis for the diagnosis and treatment of special types of diabetes.Methods:Pubmed, CNKI, and WanFang Data were searched for the case reports and clinical studies of special types of diabetes in China from 2011 to 2021. After independent literature screening by 2 researchers according to the inclusion and exclusion criteria, diseases and the number of corresponding cases included were extracted for statistics. The etiological composition and disease characteristics of three subtypes of special type diabetes were analyzed.Results:A total of 613 articles(7 377 patients)were included and roughly divided into eight subtypes of special type diabetes according to etiological classification for disease composition analysis. The results by ratio in descending order were as follows: mono-genetic gene defects in islet β-cell function, pancreatogenic diabetes, diabetes induced by drugs or chemicals, endocrine disease, mono-genetic gene defects in insulin action, other genetic syndromes associated with diabetes, infection, and uncommon immune-mediated diabetes. The disease composition of the three subtypes of special types of diabetes that we focused on were mono-genetic gene defects in islet β-cell function(50.21%), pancreatogenic diabetes(35.65%), and mono-genetic gene defects in insulin action(1.56%). The composition analysis of the special types of diabetes in each subtype showed that neonatal diabetes mellitus(NDM, n=1 749, 23.71%)and maturity onset diabetes in young(MODY, n=1 554, 21.07%)accounted for the largest proportions. According to the composition analysis of each subtype of MODY patients, the top three subtypes were MODY2(50.89%), MODY3(16.03%), and MODYX(8.91%). In addition, taking MODY as an example, patients with de novo mutations(DNMs)and(or)new mutation sites were summarized and analyzed. The results revealed 31 MODY patients with DNMs(1.99%) and 339 MODY patients with new mutation sites(21.81%). Conclusions:According to the literature analysis, NDM and MODY represent the largest proportion of patients with special type diabetes in China. MODY2 patients make up the largest proportion of MODY patients. In addition, diabetic patients carrying DNMs and(or)new mutation sites should be taken seriously.

Objective:To summarize the clinical features, radiological characteristics, therapy, and outcome of patients with spontaneous intracranial hypotension (SIH).Methods:The general information, clinical manifestations, auxiliary examinations, treatment, and outcomes in consecutive patients of SIH hospitalized in the Xuanwu Hospital, Capital Medical University from November 2018 to October 2022 were analyzed.Results:A total of 118 patients with a female-to-male ratio of 5∶4 were included and the ages were 17.00-71.00[39.00(34.00,46.75)]years with a preponderance in the age of 30-49 years. Almost all patients had orthostatic headaches (117/118, 99.2%), accompanied by nausea (90/118, 76.3%), vomiting (70/118, 59.3%), neck stiffness (88/118, 74.6%), tinnitus (57/118, 48.3%), and ear fullness (57/118, 48.3%). Brain magnetic resonance imaging (MRI) showed dural enhancement (97/113, 85.8%), enlarged venous sinus (88/113, 77.9%), subdural fluid collection (46/113, 40.7%), decreased suprasellar cistern (86/113, 76.1%), effacement of the prepontine cistern (86/113, 76.1%), diminished mamillopontine distance (80/113, 70.8%). The cerebrospinal fluid (CSF) leaks were detected in 90.7% (107/118) of the patients by magnetic resonance myelography but 54.3% (25/46) and 52.6% (20/38) by CT myelography and magnetic resonance myelography with gadolinium. Lumber puncture found CSF pressure<60 mmH 2O (1 mmH 2O=0.009 8 kPa) in 18.4% (19/103) of patients, increased CSF red blood cell counts in 50.6% (44/87) of patients, CSF pleocytosis in 44.8% (39/87) of patients, increased CSF protein concentrations in 57.5% (50/87) of patients. The headache completely disappeared after conservative treatment in 24.6% (31/118) of patients and after a single targeted epidural blood patch in 89.7% (78/87) of patients. A rebound headache after epidural blood patch treatment occurred in 66.0% (58/87) of patients. Conclusions:The patients with SIH almost manifested with orthostatic headache, and brain MRI and magnetic resonance myelography were suggested in those patients instead of CSF pressure by lumber puncture. Targeted epidural blood patch was effective and safe in SIH patients.

AIM: To observe the analgesic effect of esketamine in patients with thoracoscopic lobectomy. METHODS: Sixty patients scheduled with thoracoscopic lobectomy were randomly divided into group esketamine (ESK, n =30) and group saline (SAL, n = 30). Esketamine in ESK group was given 0.2 mg/kg at induction and 0.12 mg • kg

Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.

Objective To set up a warning diagnostic model by using the commonly used clinical indicators in an attempt to provide a basis for the early,fast and accurate diagnosis of posttraumatic sepsis.Methods Based on the presence of sepsis,165 patients were grouped into sepsis group (n =45) and non-sepsis group (n =120).Body temperature,respiration,heart rate,C-reactive protein(CRP),white blood cell,blood platelet count(PLT),activated partial thromboplastin time (APTT),acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) score and sepsis-related organ failure assessment(SOFA) score were tested to identify the independent predictors of sepsis.Warning diagnostic models of unweighted score (unwScore) and weighted score (wScore) for posttraumatic sepsis were constructed by combining the independent variables.Receiver operation characteristic curve (ROC) was used to evaluate the independent predictor and warning diagnostic models for posttraumatic sepsis.Results Body temperature,respiration,heart rate,CRP,APACHE Ⅱ score and SOFA score were significantly different between the two groups(P ＜ 0.05).Multiple analysis showed body temperature,CRP and APACHE Ⅱ score were independently associated with sepsis.With the ROC analysis,areal under the curve (AUC),sensitivity,specificity,positive predictive value and negative predictive value of unwScore (0.915,0.87,0.85,69.64％ and 94.50％) and wScore (0.931,0.96,0.78,63.24％ and 97.85％) were better than these of body temperature (0.855,0.84,0.78,59.38％ and 93.07％),CRP (0.761,0.64,0.80,55.77％ and 85.84％) and APACHE Ⅱ (0.884,0.84,0.82,64.41％ and 93.40％).Conclusions Body temperature,CRP and APACHE Ⅱ score are independent predictors of sepsis.Models combining body temperature,CRP and APACHE Ⅱ score demonstrate high performance in diagnosing sepsis in trauma patients.

Objective To investigate the effects of mannitol on the activity of erythrncyte aldose reduclase (AR),plasma nitric oxide(NO)and malondialdehyde(MDA)concentrations in patients undergoing hepatolobectomy.Methods Forty ASA Ⅰ or Ⅱ patients(aged 24-63 yr and weighing 50-68 kg),receiving combined general and epidural anesthesia and undergoing selective hepatolobectomy,were randomly assigned into a mannitol group (group M)and a normal saline group(group C).During hepatic portal occlusion,normal saline 1.5 ml/kg and 20％ mannitol 1.5 ml/kg were intravenously infused in groups C and M respectively for 30 min.Venous blood samples were collected to measure the erythrocyte AR activity and plasma NO and MDA concentrations at the following time points:before anesthesia induction(T0),at the end of hepatic portal occlusion(T1),at the end of operation(T2),one day after operation(T3)and three days after operation(T4),respectively.Results Compared with group C at T1,2,the erythrocyte AR and plasma MDA concentration decreased while plasma NO concentration increased in group M(P ＜ 0.05).Conclusion Mannitol can reduce hepatic ischemia and reperfusion injury in patients undergoing hepatolobectomy,which may be related to the mechanism of mannitol removing oxygenderived free radicals and inhibiting lipid peroxidation.

Objective Transesophageal echocardiography (TEE) guided, minimally invasive perventricular device occlusion of ventricular septal defects ( VSDs) without cardiopulmonary bypass ( CPB) has been applied in multiple centers. We reported experiences and the mid-term results. Methods Four hundred and thirty-two cases from 4 cardiac centers were involved in the study. There were 235 males and 197 females, aged from 3 months to 15 years, with a body weight varying from 4.0 to 26.0 kg. Three hundred and fifty-one patients had perimembranous VSDs, 57 had intracristal or supracristal VSDs and 24 had muscular VSDs (17 had multiple muscular VSDs). The diameter of the VSD ranged from 3 to 12 (5.3 ±1.6 ) mm.For those with perimembranous or muscular VSDs, a 3 to 5 cm inferior sternotomy was made, but for those with intracristal or supracristal VSDs, a 2 to 3 cm incision was made parastemally through the left third intercostal space. Being monitored and guided with TEE, the device was deployed to occlude the VSD through the puncture at the free wall of the right ventricle. TEE was used for assessing the residual shunting, the left and right ventricular outlet tracts, valvular function and for detecting any arrhythmia, The devices would be released if the heart rhythm was normal, as well as the residual shunting and valvular regurgilalion were not detected. Results The procedure was completed successfully in 417 cases(96.5% ) and converted to traditional surgical closure with CPB in the other 15 cases(3.5% ). Concentric devices were used in 238 cases(57.1% )and eccentric devices were used in 179 patients(42.9% ). Successful procedures finished in less than 90 minutes, and the deployment and evaluation of the devices were completed in 5 to 60 (18. 2 ± 8.6) minutes. No residual shunt and detectable aortic or tricuspid insufficiency and arrhythmia was observed. Patients were extubated within 2 hours and discharged 3 to 5 days after the operation. During fellow-up period from 3 months to 2 years, no clinically significant complications occurred. Conclusion The minimally invasive device closure of VSD under TEE guidance without CPB is proved to be a simple, safe and effective treatment for a considerable number of children with VSD. Its use in the clinical practice should be encouraged.