Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.

Objective:To explore the phenotypic heterogeneity among patients harboring identical pathogenic variants in the dystrophin ( DMD) gene by analyzing clinical and imaging data from 7 pairs of male twins with dystrophinopathy. Methods:Clinical and laboratory data of 14 (7 pairs) male twins diagnosed with dystrophinopathy through genetic testing among 1 767 patients at Peking University First Hospital from January 2017 to October 2024 were collected. Eleven patients underwent thigh muscle magnetic resonance imaging (MRI), and muscle biopsies were performed in at least 1 case of each pair.Results:Among the 7 pairs of twin patients, 2 pairs had Duchenne muscular dystrophy, and 5 pairs had Becker muscular dystrophy. In terms of variant types, 4 pairs had in-frame deletions, while the remaining 3 pairs had duplication variants, frameshift variants, and nonsense variants, respectively. Clinically, 6 individuals had asymptomatic hypercreatine kinasemia, and 8 had varying degrees of limb weakness. Among the 5 pairs of symptomatic twins, there were differences in the degree of limb weakness. Four individuals showed no significant abnormalities in thigh muscle MRI, 7 showed fat infiltration mainly in the bilateral gluteus maximus and adductor magnus muscles, and 2 pairs of twins had obvious differences in the degree of fat infiltration in muscle MRI. Muscle biopsies revealed dystrophic or mild myopathic pathological changes, with 2 individuals showing severe loss of dystrophin, while the others had partial loss.Conclusions:Dystrophinopathy exhibits significant individual differences. Even among individuals with highly similar genetic background, clinical and imaging manifestations caused by the same pathogenic variant also vary.

Allergic asthma is a complex，polygenic disease characterized by chronic inflammation and airway hyperresponsiveness. Fungus and dust mites are the most important inhaled allergens of allergic asthma，and often exist in the form of mixed allergens. In recent years，genetic studies have shown that several genes are associated with allergic asthma attacks. This article reviews the studies on the genes related to allergic asthma caused by dust mites and fungus，such as a disintegrin and metalloproteinase 33（ADAM33），interleukin-4（IL-4），glycoprotein A repetitions predominant（GARP），toll like receptor 3（TLR3），mannose-binding lectin 2（MBL2），chemokine（C-C motif）ligand 17（CCL17）and other genes .

H 1-antihistamines are widely used in the treatment of various allergic diseases, but there are still many challenges in the safe and rational use of H 1-antihistamines in pediatrics, and there is a lack of guidance on the prescription review of H 1-antihistamines for children.In this paper, suggestions are put forward from the indications, dosage, route of administration, pathophysiological characteristics of children with individual difference and drug interactions, so as to provide reference for clinicians and pharmacists.

Enterotoxigenic Escherichia coli（ETEC）infection can induce watery diarrhea，leading to dehydration，electrolyte disturbance，and even death in severe cases. Recombinant B subunit/inactivated whole-cell cholera（rBS/WC）vaccine is effective in preventing ETEC infectious diarrhea. On the basis of the latest evidence on etiology and epidemiology of ETEC，as well as the effectiveness，safety，and health economics of rBS/WC vaccine，National Clinical Research Center for Child Health（The Children’s Hospital，Zhejiang University School of Medicine）and Zhejiang Provincial Center for Disease Control and Prevention invited experts to develop expert consensus on rBS/WC vaccine in prevention of ETEC infectious diarrhea. It aims to provide the clinicians and vaccination professionals with guidelines on using rBS/WC vaccine to reduce the incidence of ETEC infectious diarrhea.

Objective:To investigate the prognostic value of colony forming unit-granulocyte and macrophage (CFU-GM) in allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods:Seventy-three patients who received allo-HSCT in Hebei Yanda Lu Daopei Hospital from February 2015 to January 2017 were selected. According to the level of CFU-GM from bone marrow (BM) culture at the time of allo-HSCT, the patients were fit into high CFU-GM group and low CFU-GM group. The overall survival rate (OS) and relapse-free mortality rate (NRM) of patients after transplantation were tested by χ2 test after a follow-up of 37.0 (12.5, 50.5) months. Kaplan-Meier method was used to compare OS and event-free survival (EFS) of patients with different CFU-GM levels. Logistic regression model was used to analyze the prognostic factors. Cox regression model was used to further analyze the prognostic risk of patients.Results:Compared with the low CFU-GM group, the high CFU-GM group had a higher OS (81.40% vs 60.00%, χ2=4.067, P=0.044) and a lower NRM (11.63% vs 36.67%, χ2=6.474, P=0.011). Compared with the low CFU-GM group, the mean OS time (57.6 and 37.1 months, respectively, P=0.039) and the mean EFS time (61.7 and 38.5 months, respectively, P=0.011) were significantly higher in the high CFU-GM group. Logistic regression analysis showed that both the level of CFU-GM and BM MNC were significant influencing factors of OS ( OR=2.917, 95% CI 1.011-8.418, P=0.048 and OR=1.510, 95% CI 1.058-2.154, P=0.023, respectively) and EFS ( OR=4.400, 95% CI 1.336-14.492, P=0.015 and OR=1.447, 95% CI 1.002-2.090, P=0.049, respectively)after transplantation. The level of CFU-GM was an independent risk factor for evaluating EFS ( HR=0.279, 95% CI 0.097-0.805, P=0.018). BM MNC was an independent risk factor for OS ( HR=1.345, 95% CI 1.052-1.720, P=0.018). Conclusion:The level of CFU-GM and BM MNC were related to the prognosis of allo-HSCT. The patients in the high CFU-GM group had higher EFS.

Hypoxemia is a common complication of pneumonia, asthma, and bronchopulmonary dysplasia in children.Rapid identification of hypoxemia is of great significance for the disposal and management of critical children.Pulse oximetry is recognized by the World Health Organization as the best way to monitor hypoxemia in children, and it can monitor pulse oxygen saturation noninvasively and continuously.Based on the related literature at home and abroad, combined with the clinical needs of pediatrics, the " Expert consensus on clinical application of pulse oximetry in children" is formulated to improve the understanding of pediatricians and nurses on the application in pediatric clinical practice, principle, operation techniques, and limitations of pulse oximetry.

Kidney cancer usually requires multidisciplinary individualized treatments. No matter what kind of treatment, drugs are essential. According to the "six-step process" (prescription legitimacy review, patient basic information evaluation review, treatment protocol review, organ function and laboratory index review, pretreatment review, and unconventional prescription review) in prescription review proposed by the anti-tumor drug prescription review expert group and referring to domestic and foreign kidney cancer guidelines and drug instructions in recent years, this consensus selects 9 targeted drugs and 4 immunotherapeutic drugs that are currently commonly used in China and elaborates the key review points in patient basic information evaluation review, treatment protocol review, and organ function and laboratory index review of kidney cancer drug treatment, in order to provide reference for clinical front-line pharmacists to review prescriptions of kidney cancer patients and promote rational drug use in clinic.

Kidney cancer usually requires multidisciplinary individualized treatments. No matter what kind of treatment, drugs are essential. According to the "six-step process" (prescription legitimacy review, patient basic information evaluation review, treatment protocol review, organ function and laboratory index review, pretreatment review, and unconventional prescription review) in prescription review proposed by the anti-tumor drug prescription review expert group and referring to domestic and foreign kidney cancer guidelines and drug instructions in recent years, this consensus selects 9 targeted drugs and 4 immunotherapeutic drugs that are currently commonly used in China and elaborates the key review points in patient basic information evaluation review, treatment protocol review, and organ function and laboratory index review of kidney cancer drug treatment, in order to provide reference for clinical front-line pharmacists to review prescriptions of kidney cancer patients and promote rational drug use in clinic.

Objective:To observe the relationship between dynamic blood pressure variability (BPV) and left ventric‐ular diastolic function in patients with essential hypertension (EH) .Methods :A total of 140 newly diagnosed EH pa‐tients were selected .According to total coefficient of variation (CV) of 24h systolic blood pressure BPV ,they were divided into high CV group (n=70 ,CV>12.16% ) and low CV group (n=70 ,CV≤12.16% ) .Another 70 healthy subjects with corresponding gender and age were enrolled as healthy control group simultaneously .Echocardiography was used to measure mitral early diastolic peak flow velocity (E) ,late diastolic peak flow velocity (A) and decelera‐tion time of E peak (DT);meanwhile ,tissue Doppler mode was used to record early diastolic peak velocity (Em) and late diastolic peak velocity (Am) .All above indexes were compared among all groups .Results:Compared with healthy control group ,BPV significantly rose in EH patients (P<0.05 or < 0.01) .All BPV indexes in high CV group were significantly higher than those of low CV group except daytime mean diastolic blood pressure variability (dDBP‐BPV) and nighttime mean diastolic blood pressure variability (nDBP‐BPV) , P<0.05 all .Compared with healthy control group ,there were significant reductions in E and Em/Am ,and significant rise in DT and E/Em in EH patients ,P<0.05 or <0.01 ;compared with low CV group ,there was significant rise in E/Em [(10.32 ± 3.20) vs .(14.22 ± 2.20) ,P=0.033] in high CV group .Conclusion:Left ventricular diastolic dysfunction is more severe in hypertensive patients with higher dynamic blood pressure variability .