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Objective: To explore the genetic etiology of pediatric intensive care unit (PICU) mortality cases and summarize their clinical characteristics. Methods: This was a retrospective cohort study. The study population consisted of 234 children who died within 7 d after admitted to the PICU of Children's Hospital of Fudan University from January 2017 to December 2021. The clinical diagnoses, laboratory test results, and genetic testing results were collected. These patients were divided into the pathogenic gene variation positive (PGVP) group and the pathogenic gene variation negative (PGVN) group according to the results of genetic testing. The Mann-Whitney U test and Pearson's chi-square test or Fisher's exact probability method were used to compare the clinical characteristics between the groups. Results: A total of 234 cases were enrolled, including 139 (59.4%) males and 95 (40.6%) females. The age at death was 1.0 (0.4, 3.7) years old and the length of PICU stay was 16 (6, 33) days. There were 62 cases (26.5%) PGVP, and the mutated pathogenic genes included immune genes (23 cases (37.1%)), metabolic genes (11 cases (17.7%)), neuromuscular genes (11 cases (17.7%)), cardiovascular genes (4 cases (6.5%)), and genes of other systems (13 cases (21.0%)). The age at death in PGVP cases was significantly lower than in PGVN cases (0.6 (0.3, 1.4) vs. 1.3(0.5, 4.3) years old, Z=3.85, P<0.001). Compared with the PGVN group, the PGVP group had a higher incidence of family history and chronic complex conditions (CCC) than the PGVN group (6.5% (4/62) vs. 0.6% (1/172) and 93.5% (58/62) vs. 76.2% (131/172), χ2=8.87, P=0.018 and 0.003, respectively). Children in the PGVP group were admitted with higher incidence of severe infection, decreased consciousness or coma, moderate-to-severe anemia, thrombocytopenia, protracted diarrhea, and abnormalities in muscle strength or tone than those in the PGVN group (74.2%(46/62) vs. 45.9%(79/172), 50.0%(31/62) vs. 35.5%(61/172), 32.3%(20/62) vs. 18.0%(31/172), 21.0%(13/62) vs. 10.5%(18/172), 25.8%(16/62) vs. 4.1%(7/172), 16.1%(10/62) vs. 5.2%(9/172), χ2=14.63, 4.04, 5.41, 4.37, 24.30, 7.25, all P<0.05). Pathogenic genes that occurred more than twice included IL2RG (5 cases), SMN1 (4 cases), and SH2D1A (3 cases, including 2 single gene varients and 1 copy number varient). Conclusions: Among the deceased cases in the PICU, the main genetic causes are immune-related, metabolic, and neuromuscular genetic disorders. Critically ill children with a family history, CCC, and early features such as severe infections, decreased consciousness or coma, moderate to severe anemia, thrombocytopenia, protracted diarrhea, or abnormalities in muscle strength or tone should be closely monitored and undergo early genetic testing.
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Enfermedades Genéticas Congénitas , Unidades de Cuidado Intensivo Pediátrico , Humanos , Masculino , Femenino , Estudios Retrospectivos , Preescolar , Lactante , Enfermedades Genéticas Congénitas/mortalidad , Enfermedades Genéticas Congénitas/genética , Mutación , Pruebas Genéticas , Niño , Tiempo de Internación , Mortalidad HospitalariaRESUMEN
Objective: To compare the effects of general anesthesia between remimazolam and propofol in pediatric patients undergoing binocular strabismus day surgery. Methods: Prospectively, 60 pediatric patients, American Society of Anesthesiologists (ASA) grade â -â ¡, scheduled to undergo binocular strabismus daytime surgery in Beijing Tongren Hospital under general anesthesia with laryngeal mask airway from December 2021 to May 2022 were selected. They were randomly divided into Remimazolam group and Propofol group with 30 cases in each group, according to the ratio of 1â¶1 by SPSS program. Patients in Remimazolam group were induced by remimazolam, remifentanil and micuronium chloride, and maintained by remimazolam and remifentanil. Patients in Propofol group were induced by propofol, remifentanil and micuronium chloride, and maintained by propofol and remifentanil. Patients in Remimazolam group were given 0.1 mg of flumazenil for antagonism 3 minutes after operation, while children in Propofol group waited for natural awakening. The primary outcome was the time from drug withdrawal to laryngeal mask removal after operation. The secondary outcomes included the time for consciousness loss during induction, intraoperative hemodynamic data [mean arterial pressure (MAP) and heart rate], the success rate of sedation, the awareness rate during operation, and the incidence of adverse events after admission to postanesthesia care unit(PACU). Results: The Remimazolam group included 12 males and 18 females, aged (5.0±1.4) years. There were 14 males and 16 females in the Propofol group, aged (5.3±1.3) years. The time from drug withdrawal to laryngeal mask removal in Remimazolam group was (6.5±1.2) min, which was shorter than that in Propofol group of (10.7±1.9) min (P<0.001). The time for consciousness loss during induction was (38.1±4.8) s in Remimazolam group, which was longer than that in Propofol group of (31.6±4.9) s (P<0.001). The variability of MAP and heart rate of patients during operation in Remimazolam group was lower than that in Propofol group (all P<0.05). There was no significant difference in sedation success rate, intraoperative awareness and adverse reactions in PACU between the two groups (all P>0.05). Conclusion: In pediatric patients with binocular strabismus during daytime surgery, general anesthesia with remimazolam can shorten the time from drug withdrawal to laryngeal mask removal after operation without increasing the incidence of postoperative adverse reactions and can provide more stable hemodynamics.
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Anestesia General , Propofol , Estrabismo , Humanos , Propofol/administración & dosificación , Estrabismo/cirugía , Niño , Estudios Prospectivos , Masculino , Femenino , Preescolar , Benzodiazepinas/uso terapéutico , Periodo de Recuperación de la Anestesia , Anestésicos Intravenosos/administración & dosificaciónRESUMEN
This study was to investigate the relationship between spring pollen distribution concentration, species and the detection results of air-borne pollen allergens in Taiyuan City, Shanxi Province during March to May 2022 and March to May 2023.A retrospective study was conducted in the Otorhinolaryngology Head and Neck Surgery Clinic of the First Hospital of Shanxi Medical University.Pollen particles will be monitored by gravity sedimentation method on the roof of the outpatient department of the First Hospital of Shanxi Medical University in downtown Taiyuan from March to May 2022-2023, and pollen species and quantity will be observed and recorded under an optical microscope.The air-borne pollen allergen detection results of all allergic rhinitis patients in the otolaryngology Head and Neck surgery Department of the First Hospital of Shanxi Medical University were extracted from the relevant outpatient system. SPSS software and Pearson correlation analysis were used to compare the correlation between the allergens and the dominant air-borne pollen monitoring results. Results are as follows: (1)A total of 18 species of spring pollen in Taiyuan City were monitored in 2022-2023, with 101 177.5 grains, and the dominant airborne pollen was poplar (16.69%) and pine (29.06%) pollen. The pollen of poplar (11.96%), elm (7.89%) and cypress (8.68%) were dominant in early spring; Pine (25.16%) pollen predominated in late spring. The two peaks of pollen dispersal in Taiyuan were in late March (15 479 grains) and early and mid May (15 094/15 343 grains).(2) The positive rates of allergens in serum specific IgE detection were: wormwood (46%, 248/541 cases), tree combination (26%, 143/541 cases), ragweed (19%, 101/541 cases), humulus scandens (9%, 49/541 cases).(3)There was a linear positive correlation between the positive rate of air-borne pollen allergens in allergic rhinitis patients in the Department of Otolaryngology Head and Neck Surgery in the First Hospital of Shanxi Medical University and the dominant air-borne pollen concentration in the same period (P<0.05, r=0.999). In conclusion, two spring pollen dispersal peaks were formed in late March and early to mid May in Taiyuan City, and the dominant air-borne pollens were poplar and pine pollens. The positive rate of air borne pollen allergen sIgE showed that wormwood allergy was the highest.There was a positive correlation between the concentration of air-borne pollen and the positive rate of air-borne pollen allergens in patients with allergic rhinitis in the Department of otorhinolaryngology and head and neck surgery in Taiyuan in 2022 and 2023.The monitoring of pollen distribution in spring can provide an important scientific basis for clinical workers to formulate prevention and treatment plans for patients with allergic rhinitis in the season, and provide data reference for the epidemiological investigation of allergic diseases in Taiyuan in the future.
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Alérgenos , Polen , Humanos , China , Estudios Retrospectivos , Inmunoglobulina E/sangre , Estaciones del Año , Rinitis Alérgica , Rinitis Alérgica EstacionalRESUMEN
Pyridaben is a broad-spectrum acaricide widely used in agriculture, accidental or self-administration of large doses of pyridaben can cause multiple organ failure in patients. Due to its damage to multiple organs and no specific antidote, the mortality rate is high. This paper reports two patients who took a large amount of pyridaben, developed severe metabolic acidosis, hyperlactatemia, toxic encephalopathy, and liver, kidney, heart and digestive tract damage. After timely gastric lavage, catharsis, organ support andblood purification treatment, the condition improved and discharged. It is expected to provide clinical ideas for the treatment of pyridaben poisoning.
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Piridazinas , Humanos , Hemoperfusión/métodos , Piridazinas/envenenamientoRESUMEN
Interleukin-(IL) 22 production by intestinal group 3 innate lymphoid cells (ILC3) is critical to maintain gut homeostasis. However, IL-22 needs to be tightly controlled; reduced IL-22 expression is associated with intestinal epithelial barrier defect while its overexpression promotes tumor development. Here, using a single-cell ribonucleic acid sequencing approach, we identified a core set of genes associated with increased IL-22 production by ILC3. Among these genes, programmed cell death 1 (PD-1), extensively studied in the context of cancer and chronic infection, was constitutively expressed on a subset of ILC3. These cells, found in the crypt of the small intestine and colon, displayed superior capacity to produce IL-22. PD-1 expression on ILC3 was dependent on the microbiota and was induced during inflammation in response to IL-23 but, conversely, was reduced in the presence of Notch ligand. PD-1+ ILC3 exhibited distinct metabolic activity with increased glycolytic, lipid, and polyamine synthesis associated with augmented proliferation compared with their PD-1- counterparts. Further, PD-1+ ILC3 showed increased expression of mitochondrial antioxidant proteins which enable the cells to maintain their levels of reactive oxygen species. Loss of PD-1 signaling in ILC3 led to reduced IL-22 production in a cell-intrinsic manner. During inflammation, PD-1 expression was increased on natural cytotoxicity receptor (NCR)- ILC3 while deficiency in PD-1 expression resulted in increased susceptibility to experimental colitis and failure to maintain gut barrier integrity. Collectively, our findings uncover a new function of the PD-1 and highlight the role of PD-1 signaling in the maintenance of gut homeostasis mediated by ILC3 in mice.
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Homeostasis , Inmunidad Innata , Interleucina-22 , Interleucinas , Linfocitos , Ratones Noqueados , Receptor de Muerte Celular Programada 1 , Animales , Ratones , Receptor de Muerte Celular Programada 1/metabolismo , Receptor de Muerte Celular Programada 1/genética , Linfocitos/inmunología , Linfocitos/metabolismo , Interleucinas/metabolismo , Mucosa Intestinal/inmunología , Mucosa Intestinal/metabolismo , Transducción de Señal , Colitis/inmunología , Intestinos/inmunología , Ratones Endogámicos C57BL , Humanos , Modelos Animales de EnfermedadRESUMEN
Objective: To explore the standardized performance of a FISH probe before clinical detection. Methods: The probe sensitivity and specificity of ETV6/RUNX1 were analyzed via interphase and metaphase FISH in 20 discarded healthy bone marrow samples. The threshold system of the probe was established using an inverse beta distribution, and an interpretation standard was established. Finally, a parallel-controlled polymerase chain reaction detection study was conducted on 286 bone marrow samples from patients at our hospital. The clinical sensitivity, specificity, and diagnostic coincidence rate of ETV6/RUNX1 FISH detection were analyzed, and the diagnostic consistency of the two methods was analyzed by the kappa test. Results: The probe sensitivity and specificity of the ETV6/RUNX1 probe were 98.47% and 100%, respectively. When 50, 100, and 200 cells were counted, the typical positive signal pattern cutoffs were 5.81%, 2.95%, and 1.49%, respectively, and the atypical positive signal pattern cutoffs were 13.98%, 9.75%, and 6.26%, respectively. The clinical sensitivity of FISH was 96.1%, clinical specificity was 99.6%, diagnostic coincidence rate was 99.00%, diagnostic consistency test kappa value was 0.964, and P value was <0.001. Conclusion: For FISH probes without a national medical device registration certificate, standardized performance verification and methodology performance verification can be performed using laboratory developed test verification standards to ensure a reliable and accurate reference basis for clinical diagnosis and treatment.
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Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Hibridación Fluorescente in Situ , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Sensibilidad y EspecificidadRESUMEN
Objective: To analyze the status of respiratory pathogen detection and the clinical features in children with Mycoplasma pneumoniae pneumonia (MPP). Methods: A prospective, multicenter study was conducted to collect clinical data, including medical history, laboratory examinations and multiplex PCR tests of children diagnosed with MPP from 4 hospitals in China between November 15th and December 20th, 2023. The multiplex PCR results and clinical characteristics of MPP children in different regions were analyzed. The children were divided into severe and mild groups according to the severity of the disease. Patients in the severe group were further divided into Mycoplasma pneumoniae (MP) alone and Multi-pathogen co-detection groups based on whether other pathogens were detected besides MP, to analyze the influence of respiratory pathogen co-detection rate on the severity of the disease. Mann-Whitney rank sum test and Chi-square test were used to compare data between independent groups. Results: A total of 298 children, 136 males and 162 females, were enrolled in this study, including 204 children in the severe group with an onset age of 7.0 (6.0, 8.0) years, and 94 children in the mild group with an onset age of 6.5 (4.0, 7.8) years. The level of C-reactive protein, D-dimer, lactic dehydrogenase (LDH) were significantly higher (10.0 (5.0, 18.0) vs. 5.0 (5.0, 7.5) mg/L, 0.6 (0.4, 1.1) vs. 0.5 (0.3, 0.6) mg/L, 337 (286, 431) vs. 314 (271, 393) U/L, Z=2.02, 2.50, 3.05, all P<0.05), and the length of hospitalization was significantly longer in the severe group compared with those in mild group (6.0 (6.0, 7.0) vs. 5.0 (4.0, 6.0) d, Z=4.37, P<0.05). The time from onset to admission in severe MPP children was significantly shorter than that in mild MPP children (6.0 (5.0, 9.5) vs. 9.0 (7.0, 13.0) d, Z=2.23, P=0.026). All patients completed the multiplex PCR test, with 142 cases (47.7%) MPP children detected with 21 pathogens including adenovirus 25 cases (8.4%), human coronavirus 23 cases (7.7%), rhinovirus 21 cases (7.0%), Streptococcus pneumoniae 21 cases (7.0%), influenza A virus 18 cases (6.0%). The pathogens with the highest detection rates in Tianjin, Shanghai, Wenzhou and Chengdu were Staphylococcus aureus at 10.7% (8/75), adenovirus at 13.0% (10/77), adenovirus at 15.3% (9/59), and both rhinovirus and Haemophilus influenzae at 11.5% (10/87) each. The multi-pathogen co-detection rate in severe MPP children was significantly higher than that in mild MPP group (52.9% (108/204) vs. 36.2% (34/94), χ²=10.62,P=0.005). Among severe MPP children, there are 89 cases in the multi-pathogen co-detection group and 73 cases in the simple MPP group. The levels of LDH, D-dimer and neutrophil counts in the multi-pathogen co-detection group were significantly higher than those in the simple MPP group (348 (284, 422) vs. 307 (270, 358) U/L, 0.8 (0.5, 1.5) vs. 0.6 (0.4, 1.0) mg/L, 4.99 (3.66, 6.89)×109 vs. 4.06 (2.91, 5.65)×109/L, Z=5.17, 4.99, 6.11, all P<0.05). Conclusions: The co-detection rate of respiratory pathogens, LDH and D-dimer in children with severe MPP were higher than those with mild MPP. Among severe MPP children the stress response of children in co-detection group was more serious than that of children with simple MPP.
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Mycoplasma pneumoniae , Neumonía por Mycoplasma , Niño , Masculino , Femenino , Humanos , Mycoplasma pneumoniae/genética , Estudios Prospectivos , China/epidemiología , Neumonía por Mycoplasma/diagnóstico , Hospitalización , Estudios RetrospectivosRESUMEN
Objective: To observe the clinical efficacy of a 3D printed self-stable zero-profile artificial vertebral body for anterior cervical corpectomy decompression and fusion in the treatment of ossification of the posterior longitudinal ligament (OPLL) of the cervical spine. Methods: In this prospective randomized controlled trial, patients diagnosed with OPLL in Luohe Central Hospital from January to July 2022 were divided into a zero-profile group (3D printed self-stable zero-profile artificial vertebral body was used for internal fixation and fusion after anterior cervical subtotal decompression,) and titanium-mesh group (titanium-mesh and titanium plate were used for internal fixation and fusion after anterior cervical subtotal decompression) according to envelope random method. Operation time, intraoperative blood loss, Japanese Orthopaedic Association (JOA) score and improvement rate, incidence of postoperative prosthesis subsidence, and bone graft fusion were recorded and compared between the two groups. Results: Finally, 21 patients in the zero notch group and 20 patients in the titanium mesh group were included in the study and were followed-up. In the zero-profile group, there were 16 males and 5 females, aged (48.0±12.7) years. In the titanium-mesh group, there were 14 males and 6 females, aged (49.8±10.2) years. All the 41 patients successfully completed the operation. In the zero-profile group, the surgical time was (50.04±8.45) minutes, the blood loss was (95.38±26.07) ml and the hospitalization cost was (42.32±6.12) thousand yuan. In the titanium-mesh group, the surgical time was (59.20±11.95) minutes, the blood loss was (93.10±27.86) ml and the hospitalization cost was (42.10±6.71) thousand yuan. The surgical time in the zero-profile group was shorter than that in the titanium-mesh group (P=0.007), and there was no statistically significant difference in blood loss and hospitalization costs between the two groups (both P>0.05). The 41 patients were followed-up for (14.29±1.45) months. Four cases (20.0%) in the titanium mesh group experienced swallowing difficulties and 0 cases in the zero incision group, the difference between the two groups was statistically significant (P=0.048). No intraoperative hematoma, spinal cord nerve recompression, airway crisis, incision infection complications, and no steel plate or screw breakage or displacement occurred after surgery. At the last follow-up, all cases had bone fusion. At the follow-up of 12 months after surgery, the JOA score of the zero incision group increased from preoperative (10.33±1.71) points to (15.47±0.81) points, with an improvement rate of 76.1%±15.7%; the JOA score of the titanium mesh group increased from (10.30±1.75) points to (15.30±0.92) points, with an improvement rate of 73.2%±16.7%; there was no statistically significant difference in improvement rate between the two groups (P=0.580). At the follow-up of 12 months after surgery, 1 case (4.8%) in the zero incision group and 8 cases (40.0%) in the titanium mesh group experienced implant sinking, and the difference between the two groups was statistically significant (P=0.009). Conclusion: Compared with titanium-mesh, 3D printed self-stable zero-profile artificial vertebral body for the treatment of OPLL of the cervical spine can achieve good surgical efficacy, shorter surgical time, lower incidence of postoperative chronic swallowing discomfort, and can provide a better bone material bonding interface and be less prone to prosthesis settlement.
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Osificación del Ligamento Longitudinal Posterior , Fusión Vertebral , Masculino , Femenino , Humanos , Ligamentos Longitudinales , Titanio , Osteogénesis , Estudios Prospectivos , Cuerpo Vertebral , Vértebras Cervicales/cirugía , Resultado del Tratamiento , Fusión Vertebral/métodos , Impresión Tridimensional , Estudios Retrospectivos , Osificación del Ligamento Longitudinal Posterior/cirugíaRESUMEN
Antibody-secreting plasma cells (PCs) are generated in secondary lymphoid organs but are reported to reside in an emerging range of anatomical sites. Analysis of the transcriptome of different tissue-resident (Tr)PC populations revealed that they each have their own transcriptional signature indicative of functional adaptation to the host tissue environment. In contrast to expectation, all TrPCs were extremely long-lived, regardless of their organ of residence, with longevity influenced by intrinsic factors like the immunoglobulin isotype. Analysis at single-cell resolution revealed that the bone marrow is unique in housing a compendium of PCs generated all over the body that retain aspects of the transcriptional program indicative of their tissue of origin. This study reveals that extreme longevity is an intrinsic property of TrPCs whose transcriptome is imprinted by signals received both at the site of induction and within the tissue of residence.
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Médula Ósea , Células Plasmáticas , Células de la Médula ÓseaRESUMEN
In this article, we reported a 28-year-old female patient who presented with intermittent hemoptysis, cough, and sputum production. Laboratory tests showed no abnormalities in the blood counts or inflammatory markers, and the sputum cultures were negative. A chest computed tomography scan showed bronchiectasis associated with infection in the middle and lower lobes of the right lung and right pleural thickening. We performed bronchoalveolar lavage by bronchoscopy in the dorsal segment of the right lower lobe and found Mycobacterium avium intracellulare complex (MAC) by Next Generation Sequencing (NGS) of bronchoalveolar lavage fluid (BALF). The patient's symptoms improved significantly after anti-mycobacterium treatment and the extent of infection was reduced on imaging. To further identify the cause of bronchiectasis, the patient is tall and thin, with slender limbs. Cardiac color ultrasound showed the widening of aortic sinus. Her genetic testing of blood samples revealed the gene mutation in the FBN1 gene (c.4349G>A). Based on these results, she was diagnosed with Marfan syndrome.
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Bronquiectasia , Síndrome de Marfan , Infección por Mycobacterium avium-intracellulare , Humanos , Femenino , Adulto , Infección por Mycobacterium avium-intracellulare/diagnóstico , Síndrome de Marfan/complicaciones , Esputo/microbiología , Bronquiectasia/microbiología , Complejo Mycobacterium aviumRESUMEN
The initial clinical manifestations of pulmonary artery involvement in Takayasu arteritis were complicated and non-specific, making early diagnosis difficult. Three cases of Takayasu arteritis with pulmonary artery involvement (TA-PAI) initially presenting as community-acquired pneumonia (CAP) were reported. The clinical characteristics and lab test results of the three cases were summarized, and the relevant literature on TA-PAI mimicking CAP was concomitantly reviewed. It might be helpful in the early recognition and diagnosis of such patients.
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Objective: To analyze probability of prodromal Parkinson's disease (pPD) and assess the association between global cognitive function and cognitive domain function and probability of pPD in ≥55 years old middle-aged and elderly people in Hebei, Zhejiang, Shaanxi and Hunan Provinces in China. Methods: Data were collected from dataset of the Community-based Cohort Study on Nervous System Disease 2020. We selected 4 634 Alzheimer disease and Parkinson's disease free persons aged ≥55 years with completed information on demographics, disease history, cognitive test, and risk factors of Parkinson's disease for this study. Cognitive function was assessed using Montreal Cognitive Assessment Scale (Chinese version). Calculation of probability of pPD and assessment of possible/probable pPD were performed according to the criteria published by the International Parkinson and Movement Disorder Society. Multivariate linear regression model was used to analyze the association between cognitive function and probability of pPD. Results: The M (Q1,Q3) of global cognitive function and cognitive domains in terms of memory, execution, visuospatial function, language, attention and orientation were 25 (20, 30), 13 (11, 15), 10 (7, 12), 6 (4, 7), 5 (4, 6), 15 (12, 18) and 6 (6, 6) points, respectively. The M(Q1,Q3) of probability of pPD was 0.42% (0.80%, 1.73%), and the proportion of the study subjects with possible/probable pPD was 0.4%. Differences in the distribution of probability of pPD were significant among groups by total cognitive score quartiles (P<0.001), and the difference in proportions of study subjects with possible/probable pPD was significant and showed decline trend (P=0.001). After adjusted for confounders, the results of multivariate linear regression analyses showed that probability of pPD in the Q2, Q3 and Q4 group decreased by 23.4%, 31.2% and 20.1% compared with Q1 group, and corresponding ß values were 0.766 (95%CI: 0.702-0.836), 0.688 (95%CI: 0.631-0.751) and 0.799 (95%CI: 0.730-0.875), respectively, the trend was significant (P<0.001). Higher index scores of execution, visuospatial function, language, attention and orientation were highly related to lower probability of pPD (P<0.001). Conclusion: Declines in global cognitive function and cognitive domains of execution, visuospatial function, language, attention and orientation might increase the probability of pPD in middle-aged and elderly people, suggesting the importance of cognitive intervention in early stage for pPD prevention.
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Enfermedad de Parkinson , Anciano , Humanos , Persona de Mediana Edad , Estudios de Cohortes , Enfermedad de Parkinson/epidemiología , China/epidemiología , Cognición , Factores de RiesgoRESUMEN
Objective: To explore the characteristics of pulmonary blood flow perfusion imaging of single photo emission computer tomography/computer tomography (SPECT/CT) in chronic pulmonary vascular Stenosis (CPVS) caused by different etiological factors. Methods: This is a retropective study. Present study screened 50 consecutive cases diagnosed with chronic pulmonary vascular stenosis from January 2019 to January 2020 in the department of cardiology of Gansu Provincial Hospital and underwent SPECT/CT pulmonary blood flow perfusion examination. Thirteen patients were excluded because of pulmonary vascular lesions with a disease course of less than 3 months and poor image quality. According to the etiology, patients were divided into fibrosing mediastinitis (FM) group, Takyasu's arteritis (PTA) group, and chronic thromboembolic pulmonary hypertension/chronic thromboembolic pulmonary disease (CTEPH/CTED) group. The severity of pulmonary blood flow perfusion was evaluated in accordance with the Begic scoring principle in the three groups. The overall Begic score, lung lobe scores among three groups were compared. CT signs of lung SPECT/CT, such as enlargement of hilar lymph node, atelectasis, bronchial stenosis, were also analyzed in three groups. Results: A total of 37 patients with chronic pulmonary vascular stenosis were finally enrolled (18 in the FM group, 5 in the PTA group, and 14 in the CTEPH/CTED group). The total Begic score of pulmonary perfusions was similar among the three groups (F=0.657,P>0.05). There was a statistically significant difference in the left upper lobe Begic score among the three groups (H=4.081, P<0.05). The left upper lobe Begic score was higher in the FM group than in the PTA group (3.44±2.50 vs. 1.60±0.55, P<0.05). As compared to other two groups, patients in FM group were featured with CT signs of higher percent of hilar enlargement (FM group vs. PTA group: 16/18 vs. 1/5, P=0.008; FM group vs. CTEPH/CTED group: 16/18 vs. 3/14, P=0.000 2), enlargement of the pulmonary hilum lymph nodes (FM group vs. PTA group: 14/18 vs. 1/5, P=0.033; FM group vs. CTEPH/CTED group: 14/18 vs. 2/14, P=0.001), and calcification of mediastinal soft tissue (FM group vs. PTA group: 11/18 to 0/5, P=0.037; FM group vs. CTEPH/CTED group: 11/18 vs. 1/14, P=0.003). The proportion of CT signs of bronchial stenosis (9/18 vs. 0/14, P=0.002) and atelectasis (9/18 vs. 1/14, P=0.002) was also higher in the FM group than in the CTEPH/CTED group. In case of abnormal pulmonary blood flow perfusion, the diagnostic accuracy of CT signs hilar enlargement, hilar lymph node enlargement, mediastinal soft tissue calcification, bronchial stenosis, and atelectasis for the diagnosis of FM were 81.1%, 83.8%, 78.4%, 75.7%, and 73.0%, respectively. Conclusion: There is no significant difference in the Begic score of SPECT/CT pulmonary blood flow perfusion imagines among the three groups of patients. Impaired pulmonary blood flow perfusion combined with typical CT signs is useful for identifying patients with FM.
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Calcinosis , Mediastinitis , Atelectasia Pulmonar , Humanos , Constricción Patológica/diagnóstico por imagen , Perfusión , Pulmón/diagnóstico por imagen , Tomografía Computarizada de Emisión de Fotón Único , Tomografía Computarizada por Rayos XRESUMEN
Objectives: To explore obesity prevalence and its association with dietary patterns among Tibetan pastoralists during the urbanization transition in Qinghai Province. Methods: Using an open cohort study design, 1 003 subjects were enrolled at baseline in 2018, 599 were followed up, and 1 012 were newly recruited in 2022. A total of 1 913 adults over 18 years were included in the study, and a questionnaire survey and health examination were conducted. Factor analysis was used to identify dietary patterns, and a mixed-effects model was used to analyze the association between dietary patterns and obesity. Results: From 2018 to 2022, the prevalence rates of overweight, obesity, and central obesity were 27.6%, 33.8%, and 54.6%, respectively. Age-sex-standardized prevalence of obesity and central obesity increased. Three dietary patterns were identified: the modern pattern was characterized by frequent consumption of pork, poultry, processed meat, fresh fruits, sugary drinks, salty snacks, etcetera; the urban pattern was characterized by frequent consumption of refined carbohydrates, beef and mutton, vegetables and eggs, etcetera; and pastoral pattern featured frequent consumption of tsamba, Tibetan cheese, buttered/milk tea, and whole-fat dairy products. After adjusting for demographic characteristics, socioeconomic status, and lifestyle factors, compared with the T1, subjects in the T3 of urban pattern scores were more likely to be overweight (OR=2.09, 95%CI: 1.10-3.95) and overweight/obese (OR=1.23, 95%CI: 1.00-1.51), whereas those in the T3 of pastoral pattern scores had a lower risk of overweight (OR=0.45, 95%CI: 0.24-0.84), obesity (OR=0.81, 95%CI: 0.69-0.95), overweight/obesity (OR=0.75, 95%CI: 0.61-0.91) and central obesity (OR=0.58, 95%CI: 0.38-0.89). Conclusions: Prevalence of obesity and central obesity was high among Tibetan pastoralists during the urbanization transition. Urban dietary pattern was a risk factor for overweight and overweight/obesity, whereas pastoral dietary pattern was a protective factor for overweight, obesity, overweight/obesity, and central obesity. Tailored interventions are needed to improve local people's health.
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Obesidad Abdominal , Sobrepeso , Adulto , Bovinos , Animales , Humanos , Sobrepeso/epidemiología , Estudios de Cohortes , Prevalencia , Tibet/epidemiología , Obesidad/epidemiología , Proyectos de InvestigaciónRESUMEN
Objective: To evaluate the effect of compound chamomile and lidocaine hydrochloride gel on oropharyngeal complications after the use of laryngeal mask airway with positive pressure ventilation. Methods: A total of 64 patients undergoing elective surgery under general anesthesia using laryngeal mask airway (LMA) with positive pressure ventilation in Beijing Tongren Hospital Affiliated to Capital Medical University From January to March 2023 were prospectively selected and divided into two groups by the random number table method: normal saline group (n=32), with 18 males and 14 females, aged 28-64 (48.4±10.6) years, and the compound chamomile and lidocaine hydrochloride gel group (chamomile gel group, n=32), with 18 males and 14 females, aged 24-64 (46.3±10.8) years. Patients in both groups received total intravenous anesthesia. Before LMA placement, the front, shoulder and back of LMA were lubricated with normal saline and compound chamomile and lidocaine hydrochloride gel in the normal saline group and the chamomile gel group, respectively. The main outcome measure was the incidence of postoperative oropharyngeal mucosal inflammation at different time points after the removal of the laryngeal mask. Secondary outcome measures included oropharyngeal mucositis score, sore throat score, hoarse voice score, cough score and throat dryness score at different time points after LMA removal, the number of LMA insertion times, time of successful insertion and leakage pressure, as well as stress reactions such as cough and agitation before and after LMA removal, and adverse reactions such as tongue numbness and protective pharyngeal reflex limitation during recovery. Results: The incidence of oropharyngeal mucositis in the chamomile gel group was 25.0% (8/32), 31.3% (10/32), 28.1% (9/32) and 3.1% (1/32) at 0.5, 3, 6 and 24 h after LMA removal, respectively, which were lower than those of normal saline group [53.1% (17/32), 59.4% (19/32), 59.4% (19/32) and 21.9% (7/32)] (all P<0.05). The oropharyngeal mucositis scores of patients in the chamomile gel group were 0 (0, 0.8), 0 (0, 1.0), 0 (0, 1.0) and 0 (0, 0) respectively at 0.5, 3, 6 and 24 h after LMA removal, which were lower than those in the saline group [1.0 (1.0, 1.8), 1.0 (0, 2.0), 1.0 (0, 2.0) and 0 (0, 0)] (all P<0.05). The cough score of the patients in the chamomile gel group was 0 (0, 0) and 0 (0, 0) at 3, 6 h after LMA removal, which were lower than those of the normal saline group [(0, 0) and 0 (0, 0)] (both P<0.05). The throat dryness score of the patients in the chamomile gel group was 0 (0, 1.0) at 3 h after LMA removal, which was lower than that of the normal saline group [1.0 (0.3, 1.0)] (P=0.019). The time of successful LMA insertion in the chamomile gel group was 25.0 (20.3, 29.8) s, which was shorter than that in the saline group [29.0 (25.0, 32.0) s] (P=0.016). There were no significant differences in the number of LMA insertion, leakage pressure, postoperative sore throat and hoarse voice scores between the two groups (all P>0.05). Likewise, there were no stress reactions such as cough and agitation before and after LMA removal, and no adverse reactions such as tongue numbness and limited protective pharyngeal reflex during recovery. Conclusion: Compound chamomile and hydrochloride lidocaine gel can reduce the incidence of postoperative oropharyngeal mucositis, relieve the symptoms of postoperative oropharyngeal mucositis, pharyngeal dryness and cough, and improve the postoperative comfort of patients using the laryngeal mask airway with positive pressure ventilation.
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Máscaras Laríngeas , Mucositis , Femenino , Masculino , Humanos , Lidocaína/uso terapéutico , Atragantamiento , Manzanilla , Tos , Hipoestesia , Solución Salina , Respiración con Presión Positiva , DolorRESUMEN
Objective: To investigate the combined effects of patatin-like phospholipase domain containing 3 (PNPLA3) rs738409 (C > G) and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) rs10929303 (C > T) on nonalcoholic fatty liver disease (NAFLD) in children and adolescents so as to provide scientific evidence for NAFLD genetic research. Methods: 1 027 children and adolescents aged 7-18 were selected as the research subjects. The general situation, past medical history, height and body weight measurements, and B- mode ultrasound test of the liver were investigated by dedicated full-time personnel. In addition, the morning fasting venous blood was collected to measure the blood biochemical indicators. DNA was extracted and genotyped for PNPLA3 rs738409 and UGT1A1 rs10929303. Logistic regression analysis was used to analyze the association and combined effect of the two gene polymorphisms and NAFLD. Statistical analysis was performed by t-test, Mann-Whitney U test, or c2 test according to different data. Results: The GG genotype of PNPLA3 rs738409 and the CC genotype of UGT1A1 rs10929303 were associated with an increased risk of developing NAFLD in children by 89% (OR = 1.89, 95% CI: 1.11-3.23, P = 0.019) and 96% (OR = 1.96, 95% CI: 1.21-3.17, P = 0.006), respectively, while the concurrent risk of NAFLD in those who carried the above two genotypes increased by 306% compared with those who did not carry both genotypes (OR = 4.06, 95% CI: 1.90 ~ 8.66, P < 0.001). Conclusion: The combined effect of PNPLA3 and UGT1A1 gene polymorphisms can significantly increase the risk of NAFLD in children, providing new evidence for elucidating the genetic susceptibility to NAFLD.
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Objective: To explore the molecular features of chronic myelomonocytic leukemia (CMML) . Methods: According to 2022 World Health Organization (WHO 2022) classification, 113 CMML patients and 840 myelodysplastic syndrome (MDS) patients from March 2016 to October 2021 were reclassified, and the clinical and molecular features of CMML patients were analyzed. Results: Among 113 CMML patients, 23 (20.4%) were re-diagnosed as acute myeloid leukemia (AML), including 18 AML with NPM1 mutation, 3 AML with KMT2A rearrangement, and 2 AML with MECOM rearrangement. The remaining 90 patients met the WHO 2022 CMML criteria. In addition, 19 of 840 (2.3%) MDS patients met the WHO 2022 CMML criteria. At least one gene mutation was detected in 99% of CMML patients, and the median number of mutations was 4. The genes with mutation frequency ≥ 10% were: ASXL1 (48%), NRAS (34%), RUNX1 (33%), TET2 (28%), U2AF1 (23%), SRSF2 (21.1%), SETBP1 (20%), KRAS (17%), CBL (15.6%) and DNMT3A (11%). Paired analysis showed that SRSF2 was frequently co-mutated with ASXL1 (OR=4.129, 95% CI 1.481-11.510, Q=0.007) and TET2 (OR=5.276, 95% CI 1.979-14.065, Q=0.001). SRSF2 and TET2 frequently occurred in elderly (≥60 years) patients with myeloproliferative CMML (MP-CMML). U2AF1 mutations were often mutually exclusive with TET2 (OR=0.174, 95% CI 0.038-0.791, Q=0.024), and were common in younger (<60 years) patients with myelodysplastic CMML (MD-CMML). Compared with patients with absolute monocyte count (AMoC) ≥1×10(9)/L and <1×10(9)/L, the former had a higher median age of onset (60 years old vs 47 years old, P<0.001), white blood cell count (15.9×10(9)/L vs 4.4×10(9)/L, P<0.001), proportion of monocytes (21.5% vs 15%, P=0.001), and hemoglobin level (86 g/L vs 74 g/L, P=0.014). TET2 mutations (P=0.021) and SRSF2 mutations (P=0.011) were more common in patients with AMoC≥1×10(9)/L, whereas U2AF1 mutations (P<0.001) were more common in patients with AMoC<1×10(9)/L. There was no significant difference in the frequency of other gene mutations between the two groups. Conclusion: According to WHO 2022 classification, nearly 20% of CMML patients had AMoC<1×10(9)/L at the time of diagnosis, and MD-CMML and MP-CMML had different molecular features.
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Leucemia Mieloide Aguda , Leucemia Mielomonocítica Crónica , Síndromes Mielodisplásicos , Humanos , Anciano , Persona de Mediana Edad , Leucemia Mielomonocítica Crónica/genética , Pronóstico , Factor de Empalme U2AF/genética , Mutación , Síndromes Mielodisplásicos/genética , Leucemia Mieloide Aguda/genéticaRESUMEN
Objective: To analyze the clinicopathological characteristics of 11 cases of chronic lymphocytic leukemia (CLL) with t (14;19) (q32;q13) . Methods: The case data of 11 patients with CLL with t (14;19) (q32;q13) in the chromosome karyotype analysis results of the Blood Diseases Hospital, Chinese Academy of Medical Sciences from January 1, 2018, to July 30, 2022, were retrospectively analyzed. Results: In all 11 patients, t (14;19) (q32;q13) involved IGH::BCL3 gene rearrangement, and most of them were accompanied by +12 or complex karyotype. An immunophenotypic score of 4-5 was found in 7 patients and 3 in 4 cases. We demonstrated that CLLs with t (14;19) (q32;q13) had a mutational pattern with recurrent mutations in NOTCH1 (3/7), FBXW7 (3/7), and KMT2D (2/7). The very-high-risk, high-risk, intermediate-risk, and low-risk groups consisted of 1, 1, 6, and 3 cases, respectively. Two patients died, 8 survived, and 2 were lost in follow-up. Four patients had disease progression or relapse during treatment. The median time to the first therapy was 1 month. Conclusion: t (14;19) (q32;q13), involving IGH::BCL3 gene rearrangement, is a rare recurrent cytogenetic abnormality in CLL, which is associated with a poor prognosis.