Niemann-Pick disease type B and heterogeneous manifestations of its liver involvement： A case report / 临床肝胆病杂志

This article reports a case with the chief complaint of “hepatosplenomegaly to be investigated” and a confirmed diagnosis of Niemann-Pick disease type B after various tests， and a literature review was conducted to summarize the heterogeneous manifestations of liver involvement in type B Niemann-Pick disease， in order to improve the clinical management of difficult and rare liver diseases.

Enfermedad invasiva por Haemophilus influenzae: reporte de 14 casos luego de un año de iniciada la pandemia por COVID-19 / Invasive Haemophilus influenzae disease: A report of 14 cases one year after the COVID-19 pandemic outbreak

El Haemophilus influenzae (Hi) causa enfermedad invasiva (EI). Se distinguen cepas capsuladas, como el serotipo b (Hib), y cepas no tipificables (HNT). Al año de declarada la pandemia por COVID-19, observamos un aumento de casos. Se describen las características clínico-epidemiológicas de niños con EI por Hi internados en el hospital (julio 2021-julio 2022). Hubo 14 casos; 12 previamente sanos. Aislamientos: Hib (n = 6), Hi serotipo a (n = 2), HNT (n = 5), 1 no se tipificó. Mediana de edad: 8,5 meses (RIC 4-21). Manifestaciones: meningitis (n = 5), neumonía (n = 6), celulitis (n = 2), artritis (n = 1). Nueve presentaron vacunación incompleta para Hib. Observamos un incremento de EI por Hi de 2,5 veces respecto a años previos. Estos datos sugieren el resurgimiento de Hib por la caída de las coberturas de vacunación y porque otras cepas de Hi no b están en aumento.

Haemophilus influenzae (Hi) causes invasive disease. There are encapsulated strains, such as serotype b (Hib), and non-typeable strains (NTHi). One year after the outbreak of the COVID-19 pandemic, the number of cases increased. In this report we describe the clinical and epidemiological characteristics of children hospitalized with invasive Hi disease (July 2021-July 2022). There were 14 cases; 12 were previously healthy children. Isolations: Hib (n = 6), Hi serotype a (n = 2), NTHi (n = 5); 1 case was not typified. Median age: 8.5 months (IQR: 4­21). Manifestations: meningitis (n = 5), pneumonia (n = 6), cellulitis (n = 2), arthritis (n = 1). Incomplete Hib immunization was observed in 9 children. Invasive Hi disease increased 2.5 times from previous years. These data suggest the reemergence of Hib due to a decline in vaccination coverage and an increase in other non-b-type Hi serotypes.

Laboratory surveillance of invasive Haemophilus influenzae disease in Argentina, 2011-2019

Abstract The incorporation of Haemophilus influenzae type b (Hib) vaccine into the Argentine National Immunization Program in 1998 resulted in a dramatic decrease in the incidence of invasive disease due to this serotype. We assessed 1405 H. influenzae (Hi) isolates causing invasive infections referred to the National Reference Laboratory between 2011 and 2019. Non-encapsulated Hi were the most common strains (44.5%), followed by types b (41.1%) and a (10.0%). Significant increase in the proportion of type b was observed, from 31.2% in 2011, to 50% in 2015, correlating with the peak incidence rate, later decreasing to 33.6% by 2019. We compared the genetic relationship between clones circulating during the period of increased Hib incidence (2011-2015) and those of the prevaccination-transition period (1997-1998). Four pulsotypes predominated in both periods, G, M, P and K, G being the most common. Multilocus sequence typing revealed that the 4 pulsotypes belonged to ST6, or one of its simple or double locus variants. Isolates from fully vaccinated individuals did not differ from those of the rest of the population studied. After ruling out aspects associated with emergence of specific clones, we concluded that factors such as low booster coverage rates, delayed vaccination schedules and use of different vaccines may have contributed to the reemergence of Hib infections.

Resumen La introducción de la vacuna contra Haemophilus influenzae tipo b (Hib) en el Programa Nacional de Inmunización de Argentina en 1998 produjo una drástica disminución de la incidencia de enfermedad invasiva causada por este serotipo. En el Laboratorio Nacional de Referencia se estudiaron 1405 aislamientos de H. influenzae causantes de enfermedad invasiva recibidos en el período 2011-2019. H. influenzae no capsulado fue el más frecuente (44,5%), seguido por los tipos b (41,1%) y a (10,0%). Se observó un aumento significativo de la proporción del tipo b, de 31,2% en 2011 a 50% en 2015, que se correlacionó con un pico de incidencia en ese mismo año. Hacia 2019, descendió a 33,6%. Con el objetivo de evaluar los clones circulantes durante el incremento de la proporción de Hib y comparar con el período prevacunal-transición, se determinó la relación genética de una selección de aislamientos de los períodos 1997-1998 y 2011-2015. El análisis por PFGE mostró 4 pulsotipos predominantes en los 2 períodos, G, M, P y K, y el pulsotipo G fue mayoritario en ambos períodos. Por MLST se demostró que los 4 pulsotipos pertenecieron al ST6 o sus variantes (simple o doble locus). Entre los aislamientos de pacientes con vacunación completa no se hallaron clones diferentes respecto del resto de la población. Se postula que las coberturas de vacunación no satisfactorias en las dosis de refuerzo, los esquemas atrasados y el uso de diferentes vacunas pudieron haber contribuido a la reemergencia de Hib.

Identification of B(A) subtype and analysis of bood transfusion strategiaes / 中国输血杂志

【Objective】 To investigate the serology and genotype identification method of B (A) subtype patients. 【Methods】 Test tube method (serology) was used to confirm the clinically difficult ABO blood group samples of 3 patients with ABO blood group; ABO blood group was genotyped by real-time PCR, and the ABO gene exon 1-7 was sequenced to determine the genotype. 【Results】 The forward and reverse blood typing result of three patients was B (A) subtype all with ABO genotype B/O2 and c.640A> G mutation on B allele of exon 7, which meets the characteristics of ABO * BA.04 genotype. 【Conclusion】 The combination of serological and genetic testing could identify difficult blood types such as ABO subtypes accurately and ensure the safety of clinical blood use.

Comparison of curative effect and cost between domestic and imported covered stents in the treatment of non-complex Stanford type B aortic dissection / 国际外科学杂志

Objective:To compare the curative effect and cost of domestic and imported covered stents in the treatment of non-complex Stanford type B aortic dissection.Methods:A retrospective case-control study was used to analyze the clinical data of 93 patients with non-complex Stanford B aortic dissection who underwent thoracic endovascular aortic repair (TEVAR) in Taizhou Second People's Hospital from September 2016 to September 2021.Ninty-three patients were divided into two groups according to the use of different covered stents during the operation, of which 47 patients were treated with domestic covered stents (observation group) and 46 patients were treated with imported covered stents (control group). Overall response rate, rate of complication, treatment cost and cost-effectiveness ratio of the two groups were compared and sensitivity analysis was performed in the two groups.The measurement datas conforming to the normal distribution were expressed as mean ± standard deviation( ± s), and the inter-group comparison was conducted by t test.The comparison of counting datas between groups was conducted by Chi-square test or Fisher exact probability method. Results:The overall response rate of the observation group and the control group were 93.62% and 97.83%, with no significant difference ( P>0.05); The incidence of complications was 6.38% and 2.17%, with no significant difference ( P>0.05). The cost of covered stent [(62 155.49±10 231.08) yuan] and the total cost of treatment [(95 063.66±20 042.34) yuan] in the observation group were lower than those in the control group [(93 825.37±16 577.04) yuan and (126 035.89±26 186.18) yuan]( P<0.05). There was no significant difference in other direct costs between the observation group [(32 908.17±9 811.26) yuan] and the control group [(32 210.52±9 609.14) yuan] ( P >0.05). The cost-effectiveness ratio of the observation group and the control group were 1 015.42 and 1 288.31, and the incremental cost-effectiveness ratio of the control group was 7 356.82. After the cost-effectiveness sensitivity analysis and adjusting the cost of the covered stent to decrease by 10% of the two groups, the cost-effectiveness ratio of the observation group and the control group were 949.03 and 1 192.41, and the incremental cost-effectiveness ratio of control group was 6 604.61. Conclusions:Both domestic and imported covered stents are effective in the treatment of non-complex Stanford type B aortic dissection with fewer complications. Compared with the imported covered stent, the domestic covered stent has lower treatment cost and more advantages of cost-effectiveness, which is more in line with diagnosis related groups reform.

Comparative analysis of clinical characteristics and short-term prognosis between type A and type B male patients with alcohol dependence / 中华行为医学与脑科学杂志

Objective:To explore the differences in clinical characteristics and treatment outcomes between patients with type A and type B alcohol dependence, and to find the independent risk factors of relapse.Methods:Alcohol-dependent male patients attending the Addiction Medicine Center of Beijing Huilongguan Hospital from January 2018 to December 2020 were selected for the study and divided into type A alcohol-dependent group ( n=77) and type B alcohol-dependent group ( n=87). All patients were given acute detoxification treatment and were followed up after treatment on relapse to drinking. Differences in demographic and clinical data were compared between the two groups, and differences in treatment outcomes between the two groups at different time points over 3 months were compared. Patients were divided into relapse group and non-relapse group according to whether they drank again after 3 months. Logistic regression model was established to screen the risk factors of relapse of alcohol-dependent patients by SPSS 25.0 software. Results:There was no significant difference between the two types of patients in years of education, marital status, smoking status and working status(all P>0.05), but the proportion of co-residents( χ2=5.69, P=0.017) and the proportion of positive family history of alcoholism were significant difference between the two type of patients( χ2=13.32, P<0.001). There were statistically significant differences between the two types of patients in the onset time( t=-7.28, P<0.001), the first drinking age( t=-2.36, P=0.020), the proportion of drinking in the morning( χ2=7.83, P=0.005), psychotic symptoms( χ2=4.31, P=0.038), convulsions after withdrawal( χ2=5.30, P=0.021), and alcohol use disorder identification test(AUDIT) score( t=4.30, P<0.001). At the 4th and 8th weekend of the follow-up, there were statistically significant differences in drinking frequency(0(0, 3), 0(0, 0), Z=-4.13, P<0.001; 3(0, 3), 0(0, 3), Z=-4.42, P<0.001) and relapse rate (40(45.98%), 9(11.69%), χ2=22.92, P<0.001; 61(70.11%), 24(31.17%), χ2=24.82, P<0.001) between the two types of alcohol dependence patients after drinking again. After 12-week follow-up, there were statistically significant differences between the two types of alcohol-dependent patients in the interval of first drinking(20(7, 30)d, 88(38, 90)d, Z=-7.83, P<0.001), the cumulative duration of abstinence(4(0, 8)weeks, 12(4, 12)weeks, Z=-5.13, P<0.001), the cumulative rate of abstinence(71(81.60%), 25(32.47%), χ2=40.62, P<0.001), the frequency of drinking after abstinence(3(3, 3), 0(0, 3), Z=-5.54, P<0.001), and the reduction of daily average alcohol consumption( t=3.36, P<0.001). Logistic regression model showed that type B alcohol dependence ( OR=3.121, P=0.03, 95% CI: 1.12-8.72) and AUDIT score ( OR=1.498, P<0.01, 95% CI: 1.29-1.74) were the risk factors for relapse of alcohol-dependent patients. Conclusions:Patients with type A and type B alcohol dependence have obvious differences in clinical characteristics and treatment outcomes, and type B alcohol dependence is independent risk factor for relapse to drinking in alcohol-dependent patients, which validate the rationality and necessity of alcohol dependence subtypes.

Quantitative determination of cyanide residues in polysaccharide-protein conjugate vaccines based on flow injection analysis(FIA) with amperometric detector / 中国生物制品学杂志

@#Objective To develop and verify a method for determination of cyanide residues in polysaccharide-protein conjugate vaccines based on flow injection analysis(FIA)with amperometric detector.Methods After removing macromolecular substances in the samples by ultrafiltration,the cyanide residues were determined by a 3700 automatic chemical analyzer with the injection time of 35 s,injection volume of 200 μL,pump speed of 40%,sample cycle time of 140 s,ultraviolet wavelength of 312 nm and an Ampere detector.The developed method was verified for the specificity,matrix effect,linear range,limit of detection(LOD),limit of quantitation(LOQ),accuracy,presicion and stability.The cyanide residues in the polysaccharide derivative bulk(13 batches)and conjugate bulk(21 batches)of Haemophilus influenzae type b conjugate vaccine and group A and C meningococcal conjugate vaccine produced by 5 manufacturers were determined by the developed method.Results Blank samples showed no interference to detection;The recoveries of the matrix effector solution of Haemophilus influenzae type b conjugate vaccine polysaccharide derivative and conjugate bulk,group A and C meningococcal conjugate vaccine polysaccharide derivative and conjugate bulk were 97.4%,102.4%,96.8% and 99.8% respectively,with all CV values less than 15%;In the range of 0.312 5 ～ 80 ng/mL,cyanogroup concentration showed a good linear relationship with peak height with a regression equation of y = 133.13 x + 57.556,R2= 0.999 1;The LOD was 0.2 ng/mL,and the LOQ was 0.6 ng/mL.The average recoveries of the control solution were 108.9%,106.5%,103.5% respectively with RSD value of 6.4% in the groups added with 5,10 and 20 ng/mL of cyanogroup and the CV values of precision verification were all less than 15%;The average concentrations of the control solution injected 20 times continuously were 76,38,18and 5 ng/mL with all CV values less than 15%,when cyanogroup concentration was 80,40,20 and 5 ng/mL,respectively.Cyanide residues were detected in 13 batches of derivative bulk samples,while not in 2 batches of 21 batches of polysaccharide conjugate bulk samples,and were detected in the others.Conclusion The developed method had good accuracy,precision and stability,which might be applied to the quantitative determination of cyanide residues in polysaccharideprotein conjugate vaccines.

Niveles de protección contra Haemophilus influenzae tipo b en niños, adolescentes y adultos cubanos / Levels of protection against Haemophilus influenzae type b in Cuban children, adolescents and adults

La concentración de los anticuerpos contra el polisacárido capsular polirribosilribitol fosfato del Haemophilus influenzae tipo b se considera un buen indicador serológico para evaluar protección contra la enfermedad invasiva. Existen pocos reportes que estudien la inmunidad serológica en Cuba. El objetivo general de este estudio fue determinar los niveles de protección séricos contra Haemophilus influenzae tipo b en niños, adolescentes y adultos cubanos, en una muestra de 575 individuos. Se cuantificó la concentración de IgG anti-polirribosilribitol fosfato de Haemophilus influenzae tipo b mediante un inmunoensayo enzimático estandarizado y validado en el laboratorio de inmunología del Centro Nacional de Genética Médica, La Habana, Cuba. Se determinaron las concentraciones medias geométricas de anticuerpos y los niveles de protección frente a la enfermedad invasiva por Haemophilus influenzae tipo b. La concentración media geométrica de IgG anti-polirribosilribitol fosfato fue de 1,94 μg/mL (IC95 por ciento 1,80; 2,08) y fue mayor en el grupo de 16 a 22 años. El porcentaje con protección de larga duración fue mayor para el sexo femenino que para el masculino (82,2 por ciento vs 71,4 por ciento; p=0,0339) entre los que poseían inmunidad natural. El grupo de sujetos nacidos en el periodo en que se vacunó con la vacuna conjugada cubana QUIMI-HIB® presentó concentraciones medias geométricas superiores (2,75 μg/mL, IC95 por ciento 2,00; 3,79). El 99,1 por ciento de los participantes presentó protección frente a la enfermedad invasiva por Haemophilus influenzae tipo b, el 19,8 por ciento a corto plazo y el 79,3 por ciento protección de larga duración. El inmunoensayo validado para la cuantificación de IgG anti-polirribosilribitol fosfato podría emplearse en estudios de seroprevalencia. En los sujetos estudiados, se encontró un predominio de elevadas concentraciones de IgG anti- polirribosilribitol fosfato del Haemophilus influenzae tipo b que confieren protección de larga duración(AU)

The levels of antibodies directed against the capsular polysaccharide polyribosylribitol phosphate of Haemophilus influenzae type b are considered a good serological indicator to assess the immunity against invasive disease. In Cuba, there are few reports that study serological immunity. The general objective was to determine serum protection levels against Haemophilus influenzae type b in Cuban children, adolescents and adults, in a sample of 575 Cuban individuals. The concentration of IgG against Haemophilus influenzae type b was quantified by means of an indirect ELISA standardized and validated in the immunology laboratory of the National Center of Medical Genetics, Havana, Cuba. The geometric mean concentration of IgG anti- polyribosylribitol phosphate and the levels of protection against invasive Haemophilus influenzae type b disease were determined. The geometric mean concentration of IgG anti- polyribosylribitol phosphate was 1.94 μg/mL (95percentCI 1.80;2.08) and the group from 16 to 22 years old presented the highest. Among those with natural immunity, the percentage with long-term protection was higher for females vs. males (82.2percent vs. 71.4percent; p=0.0339). The group of subjects born in the period in which they were vaccinated with the Cuban conjugate vaccine QUIMI-HIB® presented higher geometric mean concentration (2.75 μg/mL, CI95percent 2.00; 3.79). The 99.1percent of the participants had protection against invasive Haemophilus influenzae type b disease, 19.8percent short-term and 79.3percent long-term protection. The ELISA for the quantification of anti- Haemophilus influenzae type b IgG antibodies, developed and validated, could be used in seroprevalence studies. In the subjects studied, there was a predominance of high IgG anti- Haemophilus influenzae type b polyribosylribitol phosphate concentration values that confer long-term protection(AU)

Isolated intestinal neuronal dysplasia- type B of ileum: A rare occurrence

Intestinal neuronal dysplasia type B in the gastrointestinal tract is a rare occurrence and may occur alone or in combination with Hirschsprung disease. Distal colon seems to be a frequent site for isolated IND-B cases; however, small bowel involvement is scarcely reported. We report a case of 9 years old boy presenting with features of intestinal pseudo-obstruction for 5 years. Exploratory laparotomy revealed narrowed distal ileum with huge proximal dilatation. Histopathology of the resected terminal ileum revealed giant submucosal ganglion, hyperplastic submucosal nerves, and ectopic ganglion cells in the lamina propria suggestive of IND-B. Although IND-B involving ileum in isolation is a rare occurrence, suspicion should be kept in cases of intestinal obstruction with minimal response to conventional treatment.

Caracterización del polirribosilribitol fosfato por cromatografía de exclusión molecular de alta eficacia con detección ultravioleta / Characterization of polyribosylribitol phosphate by high efficiency size exclusion chromatography with ultraviolet detection

Haemophilus influenzae tipo b es un importante patógeno del hombre causante de varias de las enfermedades invasivas en niños menores de cinco años, contra el cual fueron autorizadas las vacunas glicoconjugadas a partir del polirribosilribitol fosfato. Quimi-Hib® es la primera y única vacuna contra este patógeno que utiliza el polisacárido obtenido por síntesis química. El Ingrediente Farmacéutico Activo es producido por el Centro de Ingeniería Genética y Biotecnología y se obtiene a partir de su conjugación al toxoide tetánico. En el presente reporte se hizo una caracterización del polirribosilribitol fosfato mediante la técnica de cromatografía de exclusión molecular de alta eficacia con detección ultravioleta a 215 nm. En el estudio se evaluaron tres lotes y se determinó el perfil de elución en una columna SuperdexTM 75 10/300 GL Increase con un porciento de pureza de 77,42 ± 8,97 y una masa molar promedio de 7.381 Da ± 210,93. La principal impureza presente en el polirribosilribitol fosfato es el dimetilsulfóxido, disolvente utilizado en la reacción de activación con el éster N-hidroxisuccinimidilo del ácido β-maleimidopropiónico. El polirribosilribitol fosfato se purificó por filtración con un Amicon Ultra-15 de 2.000 Da hasta una pureza de 99,1 por ciento y se conjugó al toxoide tetánico. El rendimiento de la reacción de conjugación con el polisacárido purificado fue de 30,0 por ciento 1,77 el cual no muestra diferencias significativas con el control que fue 33,7 por ciento ± 3,57 demostrándose que el dimetilsulfóxido no afecta el desempeño de la reacción de conjugación(AU)

Haemophilus influenzae type b is an important human pathogen causing some invasive diseases in children less than five years of age. Glycoconjugate vaccines based on polyribosylribitol phosphate have been licensed against this bacterium. Quimi-Hib® is the first and only vaccine against this pathogen using the chemically synthesized polysaccharide. The Active Pharmaceutical Ingredient is produced by the Center for Genetic Engineering and Biotechnology and is obtained from its conjugation to tetanus toxoid. In the present report a characterization of polyribosylribitol phosphate was performed by high performance molecular exclusion chromatography with ultraviolet detection at 215 nm. Three batches were evaluated in the study and the elution profile was determined on a SuperdexTM 75 10/300 GL Increase column with a purity percentage of 77.42 ± 8.97 and an average molecular weight of 7,381 Da ± 210.93. The main impurity present in polyribosylribitol phosphate was dimethylsulfoxide, the solvent used in the activation reaction with N-hydroxysuccinimidyl ester of β-maleimidopropionic acid. Polyribosylribitol phosphate was purified by filtration using a 2,000 Da cut-off Amicon Ultra-15 to a purity of 99.1 percent and conjugated to tetanus toxoid. The yield of the conjugation reaction with the purified polysaccharide was 30.0 percent ± 1.77 which shows no significant difference with the control which was 33.7 percent ± 3.57 demonstrating that dimethylsulfoxide does not affect the performance of the conjugation reaction(AU)

Hemodynamic Analysis of Redissection after Endovascular Repair for One Stanford Type B Aortic Dissection Case / 医用生物力学

Objective Based on hemodynamic analysis, to investigate the cause of distal re-entry tear in Stanford type B aortic dissection after thoracic endovascular aortic repair (TEVAR).Methods A patient with type B aortic dissection was reexamined regularly with computed tomography angiography (CTA) at 1st month, 6th month, 12th month and 24th month after TEVAR. Based on the CTA images in each period, three-dimensional (3D) aorta models were reconstructed to perform morphological analysis and hemodynamic simulation.Results Compared with the diameter at 1st month after TEVAR, the diameter of true lumen at 12 months after TEVAR increased by 1.8 times and the global distortion of aorta increased by 16.67%. At postoperative 1st, 6th and 12th month, the maximum blood velocities at the new entry tear in systole were 69.6%, 33.7% and 92.1% higher than the average ones at distal landing zone, and the maximum wall shear stresses (WSSs) were 2.52, 2.32 and 3.52 times of the average WSSs respectively. In addition, the maximum time-averaged WSS (TAWSS) at 1st, 6th and 12th month after TEVAR were 1.88, 2.53 and 3.62 times of the mean TAWSS respectively.ConclusionsThe morphology of the aorta remodeled after TEVAR, and a sudden change in the diameter of true lumen occurred at distal anchoring zone and continued to increase. As a result, the blood flow velocity in this area accelerated, and the intima was continuously exposed to high WSS, leading to the redissection.

Thoracic Endovascular Aortic Repair Following Axillo-Femoral Bypass in a Patient with Stanford B Acute Aortic Dissection Accompanied by Renal Ischemia / 日本心臓血管外科学会雑誌

A 71-year-old male was admitted to our institution because of right leg pain and paleness, accompanied by sudden chest-back pain. The right femoral artery was not palpable. The reticulated cyanosis appeared on the right leg. Contrast enhanced computed tomography (CT) revealed an acute type B aortic dissection (TBAD) extending from the descending thoracic aorta to the left common iliac artery and right external iliac artery. The intimal tear was located at thoraco-abdominal aorta. There was a severe stenosis of the true lumen at bilateral common iliac arteries because of the dynamic compression caused by the extended false lumen. Blood to the right leg was not supplied from the dissected iliac artery, the peripheral circulation was maintained by collateral flow. The patient was diagnosed acute TBAD complicated with lower limb ischemia. An emergent right axillary artery-bifemoral arteries bypass was carried out for malperfusion of lower extremities. The symptoms in the lower limbs disappeared immediately. The bilateral femoral arteries were well palpated. However, 4 days later, uncontrollable severe hypertension and anuria appeared suddenly. Contrast enhanced CT revealed the stenosis of true lumen at bilateral renal arteries and an exacerbation of stenosis of true lumen at abdominal aorta. Emergent thoracic endovascular aortic repair (TEVAR) for entry closure was performed to improve the renal function and prevent mesenteric ischemia. Postoperative contrast enhanced CT revealed the complete closure of the entry tear and dilatation of the true lumen at the descending and abdominal aorta. At the bilateral renal arteries, the blood flow improved. The renal function recovered and mesenteric ischemia did not occurred. In this report, we presented a case of acute TBAD complicated with lower limbs ischemia and late onset acute ischemic renal failure. We first performed the right axillary artery-bifemoral arteries bypass grafting, after that we had to perform TEVAR to close the entry tear. One-stage emergent TEVAR should be considered for acute TBAD with the dynamic compression at the level of abdominal aorta in future.

Accuracy and influencing factors of type B2 vessels for predicting the invasion depth of superficial esophageal squamous cell carcinoma under narrow band imaging-magnifying endoscopy / 中华消化内镜杂志

Objective:To evaluate type B2 vessels for predicting the invasion depth of superficial esophageal squamous cell carcinoma (SESCC) under narrow band imaging-magnifying endoscopy (NBI-ME), and to analyse the influencing factors of over-prediction and under-prediction.Methods:A total of 86 SESCC patients with 86 lesions confirmed by postoperative pathology, who underwent NBI-ME to evaluate the invasion depth of esophageal tumor and were observed for type B2 vessels in Department of Digestive Endoscopy of Fujian Provincial Hospital from January 2015 to April 2020, were included in the case-control study. According to the postoperative pathological results, the patients were divided into the correct prediction group ( n=25) and the wrong prediction group ( n=61), and the accuracy of prediction was calculated. The wrong prediction group was further divided into the over-prediction group ( n=49) and the under-prediction group ( n=12) to find the influencing factors of over-prediction and under-prediction, respectively. Further, multivariate Logistic analysis was performed to explore the independent influential factors for the prediction. Results:The accuracy of type B2 vessels under NBI-ME for predicting the invasion depth of SESCC was only 29.07% (25/86), and the over-prediction rate and under-prediction rates were 56.98% (49/86) and 13.95% (12/86), respectively. Univariate analysis showed that the classification of type B2 area ( χ2=36.25, P<0.001), the distinct endoscopic features (nodules, thickening and obvious depression, χ2=22.90, P<0.001), and inflammation around type B2 vessels ( χ2=9.54, P=0.004) were related to the over-prediction of the invasion depth of SESCC, and the distinct endoscopic features were related to the under-prediction of the invasion depth ( P=0.016). Multivariate Logistic regression analysis showed that B2-narrow (type B2 area ≤5 mm) ( P<0.001, OR=241.988,95% CI:15.229-3 845.252) and inflammation around type B2 vessels ( P=0.033, OR=12.801, 95% CI: 1.226-133.713) were independent risk factors for over-predicting the invasion depth of SESCC, while the distinct endoscopic features were independent protective factors for over-prediction ( P<0.001, OR=0.012, 95% CI: 0.001-0.150). The distinct endoscopic feature was an independent risk factor for under-predicting invasion depth of SESCC with type B2 vessels ( P=0.027, OR=7.899, 95% CI: 1.259-49.565). Conclusion:The accuracy of predicting the invasion depth of SESCC is low only based on type B2 vessels in NBI-ME, and over-prediction is prone to occur. B2-narrow, inflammation around type B2 vessels and without nodules, thickening and obvious depression are closely related to the over-prediction of invasion depth of SESCC by type B2 in NBI-ME, and nodules, thickening and obvious depression are closely associated with the under-prediction. However, whether the combined assessment of type B2 vessels under NBI-ME and endoscopic manifestation can improve the accuracy of prediction needs to be confirmed by further studies.

The influence of hematopoietic stem cell transplant on pulmonary involvement in pediatric type B Niemann-Pick disease: high resolution CT findings / 中华放射学杂志

Objective:To analyze the pulmonary high resolution CT (HRCT) images before and after hematopoietic stem cell transplantation (HSCT) in 6 children with Niemann-Pick disease(NPD) type B, and to investigate the effect of HSCT on lung lesions.Methods:Data of 6 children who were diagnosed with NPD type B and underwent HSCT treatment in Children′s Hospital Affiliated to Capital Institute of Pediatric from March 2019 to June 2021 were retrospectively enrolled, including 5 males and 1 female, with ages ranging from 1 year and 2 months to 5 years, and a median age of 2 years and 1month. The follow-up time of HRCT after HSCT was 7-20.5 months, the median time was 5 months, and the number of follow-up was 2-7 per patients, a total of 27 times. The pulmonary lesions (including interstitial lung disease, airway lesions and alveolar lesions) on aortic arch level, tracheal carina level and right diaphragmatic surface level were evaluated and scored respectively by two experienced pediatric radiologists, and the average score between them would be the final score. The Kruskal-Wallis H test was used to compare the scores of the three kinds of lung lesions before HSCT. The linear regression method was used to analyze the impact of HSCT duration on the degree of different lesions. To control possible confounding factors in the study, a generalized linear mixed model was used to evaluate the effects of HSCT duration, age, gender and whether co-infection on different types of lesions after HSCT. Results:Before HSCT treatment, all of the 6 children had different degree of airway, interstitial and alveolar lesions, with a median score of 3.0, 14.0 and 5.8 points, respectively (χ2=11.95, P=0.003). Interstitial disease was the most extensive and serious lesion among those three pulmonary involvements in pediatric NPD type B. After HSCT treatment, the scores of interstitial and airway lesions in all of the 6 children reduced, in varying degree, with the increase of time after HSCT. Except case 4, the alveolar lesion in 5 patients also showed a decreasing trend over time. The linear regression equation between the score of airway, interstitial, alveolar lesions and the HSCT duration was: airway lesion, Y=1.94-0.15X; interstitial lesion, Y=12.73-0.78X; and alveolar lesion, Y=3.31-0.27X. The results of the generalized linear mixed model showed that the main effect of HSCT duration significantly affected on the three kinds of lung lesions, and the scores of interstitial lesions, airway lesions and alveolar lesions were decreased by 0.688, 0.245, and 0.338 points for each 1 month increase of HSCT duration (all P<0.05). The alveolar lesion score decreased by 1.135 points for each 1 year increase in age at presentation ( P=0.012). The main effects of gender and co-infection were not statistically significant in all of the pulmonary lesions (both P>0.05). Conclusion:HSCT alleviates pulmonary lesions of children with NPD type B significantly and consistently, with interstitial lesions were the most prominent.

Mutación novel en el Síndrome Sanfilippo B. Presentación de un caso / A novel mutation in Sanfilippo Syndrome type B. Case report

Introducción: El Síndrome Sanfilippo B es un error innato en el metabolismo lisosomal, con herencia autosómica recesiva. Se caracteriza por facie ligeramente tosca, deterioro neurológico progresivo y poca repercusión somática, provocado por mutaciones en el gen NAGLU, cuyo locus es 17q21.2. La incidencia internacionalmente es muy baja y en Cuba solo se han diagnosticado siete pacientes desde 1985. Objetivo: Describir las manifestaciones clínicas, bioquímicas y moleculares de un paciente cubano diagnosticado con Síndrome Sanfilippo B. Presentación de Caso: Se describió un paciente de 13 años, cuyas principales manifestaciones clínicas fueron: facie ligeramente tosca, sinofris, alteraciones de conducta y deterioro neurológico progresivo. El trastorno del sueño fue ocasional y frecuente las infecciones respiratorias. Se demostró la presencia de colitis ulcerativa y pólipo intestinal. Se confirmó excreción aumentada de heparán sulfato y disminución de la actividad enzimática N-acetil αD-glucosaminidasa. Se identificó la mutación c.640dupC en el gen NAGLU en homocigosis en el paciente y ambos padres resultaron ser portadores. Conclusiones: Predominaron las alteraciones de conducta, deterioro neurológico progresivo e infecciones respiratorias en el caso reportado; siendo la colitis ulcerativa y el pólipo intestinal un hallazgo no descrito anteriormente para esta enfermedad. Los estudios cromatográficos y enzimáticos resultaron positivos para Sanfilippo B. El genotipo de este paciente resultó ser homocigótico para una nueva variante alélica patogénica en el gen NAGLU. Se demostró la segregación mendeliana de la mutación en la familia(AU)

Introduction: Sanfilippo syndrome type B is an autosomal recessive lysosomal storage disease. The frequent clinical manifestations include slightly coarse facial features, progressive neurodegeneration and mild somatic repercussion caused by mutations in the NAGLU gene, whose locus is 17q21.2. The worldwide incidence is very low and only seven patients have been diagnosed in Cuba since 1985. Objective: To describe clinical, biochemical and molecular characteristics of a Cuban patient with the diagnosis of Sanfilippo Syndrome type B. Case presentation: A 13 years old patient was described. The main clinical manifestations included mild coarse facie, synophrys, behavior disturbances, and progressive neurologic deterioration. Intermittent sleep disturbance and frequent upper respiratory infections were identified. Ulcerative colitis and intestinal polyp were demonstrated. Increased excretion of heparan sulfate and very low N-acetyl α-Dglucosaminidase activity were confirmed. In addition, the presence of mutation c.640dupC in NAGLU gene was identified. The patient had homozygous genotype and both parents were heterozygous. Conclusions: Behavioral alterations, progressive neurological deterioration and respiratory infections predominated in the reported case. Other findings such as ulcerative colitis and intestinal polyps were not previously described in this disease. The chromatographic and enzymatic studies were positive for Sanfilippo type B. This patient's genotype was found to be homozygous for a novel pathogenic allelic variant in the NAGLU gene. Mendelian segregation of the mutation in the family was demonstrated(AU)

Endovascular Aortic Repair for Type B Acute Aortic Dissection with Leg Malperfusion / 日本心臓血管外科学会雑誌

Leg malperfusion accompanied with type B acute aortic dissection (AAD) is reported to be an independent predictor for mortality. In such a case, though aortic replacement, extra anatomical arterial bypass or endovascular aortic repair (EVAR) can be selected, an appropriate treatment strategy has not been established yet. A 53-year-old woman was urgently hospitalized with sudden low back pain and right leg weakness, despite the right popliteal and anterior tibial arteries being palpable. Computed tomography (CT) revealed a type B AAD, and antihypertensive therapy was initiated. She complained of intermittent claudication during rehabilitation, and right leg ischemia with decreased ankle brachial pressure index (ABPI) was detected. The follow-up CT revealed the narrow true lumen of the right common iliac artery compressed by the thrombosed false lumen and the large entry of the aortic dissection in the terminal aorta. At the subacute phase of the aortic dissection, EVAR was performed. To expand the true lumen and exclude the entry, Y-shaped stent-grafts were implanted in the infra-renal aorta and the bilateral common iliac arteries. The postoperative course was uneventful. Postoperative ABPI returned to the normal range, and the intermittent claudication disappeared. In conclusion, EVAR should be considered in patients with type B AAD complicated with leg malperfusion.

A Case of Staged Hybrid Repair for Subacute Type B Aortic Dissection in a Patient with Shaggy Aorta / 日本心臓血管外科学会雑誌

In aortic surgery involving shaggy aorta, surgical strategy to avoid embolism is crucial for each case. We applied the frozen elephant trunk technique to a patient with shaggy aorta. A 79-year-old man was admitted to our hospital for conservative treatment of acute Type B aortic dissection. Dissecting aneurysms of the aortic arch and descending aorta were shown to have rapidly dilated according to CT three weeks later. Preoperative contrast CT showed an ulcerated shaggy aorta from the aortic arch to the mid portion of the descending aorta. To utilize the benefit of the stent compared with the classical elephant trunk technique, we proposed that the frozen elephant trunk technique would be helpful in prevention of embolism. We therefore planned total arch replacement with the frozen elephant trunk technique and performed thoracic endovascular aortic repair. We employed the frozen elephant trunk technique in the first operation and balloon protection of the superior mesenteric artery and the renal artery in the second operation. The patient had an uneventful postoperative course without thromboembolism. The frozen elephant trunk technique may be helpful for patients with shaggy aorta to avoid thromboembolic events.

Analysis of clinical characteristics and prognostic risk factors in patients with Stanford type B aortic dissection complicated with hypertension / 中华危重病急救医学

Objective:To investigate the clinical characteristics as well as short-term and long-term prognostic factors of patients with Stanford type B aortic dissection (TBAD) with hypertension.Methods:Patients with TBAD who received thoracic endovascular aortic repair (TEVAR) admitted to Xiangyang Central Hospital from January 2014 to December 2018 were enrolled. The baseline data of patients admitted to the hospital were collected through the case management system, including gender, age, underlying diseases (hypertension, diabetes, coronary heart disease), smoking history, drinking history, duration of pain, vital signs at admission [heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP)], laboratory results [white blood cell count (WBC), platelet count (PLT), neutrophil/lymphocyte ratio (NLR), serum creatinine (SCr), C-reactive protein (CRP), D-dimer, ascending aorta diameter], etc. The clinical characteristics of TBAD patients with hypertension were analyzed. Logistic regression model and Cox proportional risk model were used to analyze the impact of hypertension on the short-term and long-term all-cause deaths after TEVAR in TBAD patients.Results:Among 227 TBAD patients, 160 cases (70.5%) were complicated with hypertension, while 67 cases (29.5%) were not. The average age, the proportion of diabetes and coronary heart disease, and the level of SBP, DBP and SCr at admission of TBAD patients with hypertension were higher than those of TBAD without hypertension [age (years old): 53.1±11.9 vs. 42.8±14.1, combined with diabetes: 8.8% vs. 1.5%, combined with coronary heart disease: 6.3% vs. 0%, SBP (mmHg, 1 mmHg = 0.133 kPa): 147.9±18.1 vs. 136.9±15.2, DBP (mmHg): 93.9±11.9 vs. 89.1±13.8, SCr (μmol/L): 97.8±25.4 vs. 89.8±23.6, all P < 0.05]. The short-term mortality of TBAD with hypertension group was significantly higher than that of TBAD without hypertension group [6.3% (10/160) vs. 0% (0/67), χ2 = 4.386, P = 0.036]. 227 patients with TBAD were followed up for 3-66 months, with a median follow-up time of 25 months. There was no significant difference in long-term mortality between TBAD patients with and without hypertensive during discharge follow-up [13.1% (21/160) vs. 9.0% (6/67), χ2 = 0.784, P = 0.376]. Further multivariate Logistic regression analysis and Cox regression analysis did not indicate that hypertension was an independent risk factor for short-term and long-term death in TBAD patients [odds ratio ( OR) and 95% confidence interval (95% CI) were 13.477 (0.541-330.215), 1.012 (0.990-1.035), both P > 0.05]. Age and HR were independent risk factors for the short-term mortality of TBAD patients [ OR and 95% CI were 15.287 (1.051-226.415), 0.026 (0.002-0.840), both P < 0.05]. Age, PLT and D-dimer were independent risk factors for the long-term mortality of TBAD patients [ OR and 95% CI were 1.808 (1.205-2.711), 0.555 (0.333-0.924), 1.482 (1.035-2.122), respectively, all P < 0.05]. Conclusions:The TBAD patients with hypertension have older age, high rates of diabetes or coronary heart disease. However, hypertension is not an independent risk factor for short-term and long-term mortality in TBAD patients.

Effectiveness of in vitro fenestration versus bypass surgery for type B aortic dissection involving the left subclavian artery / 中国胸心血管外科临床杂志

@#Objective    To analyze the effectiveness of in vitro fenestration versus bypass surgery techniques in the treatment of type B aortic dissection involving the left subclavian artery by thoracic endovascular aortic repair (TEVAR). Methods    Among the 53 patients with type B aortic dissection involving the left subclavian artery admitted to our center from January 2017 to October 2020, 23 underwent in vitro fenestration + TEVAR (a fenestration group with 18 males and 5 females aged 53.6±5.3 years), and 30 patients underwent left common carotid artery-left subclavian artery bypass + TEVAR (a bypass group with 24 males and 6 females aged 51.8±3.8 years). The effectiveness and safety between the two groups were compared. Results    The surgical success rate was 100.0% in both groups. And there was no death within postoperative 30 days and during the follow-up. There was no endoleak immediately postoperatively and during 1-year follow-up in the two groups. The operation time and hospitalization expenses in the fenestration group was less or shorter than those in the bypass group (P<0.05). The reduction in blood pressure of the left upper limb in the fenestration group was greater than that in the bypass group (P<0.05). There was no symptom of left upper limb ischemia, dizziness or hoarseness in both groups. Conclusion    The two methods of reconstruction of the left subclavian artery are safe and effective. In vitro fenestration can reduce surgical trauma and costs, and bypass surgery can provide better forward blood flow for the left subclavian artery.

A Case of Acute Type B Aortic Dissection Subsequent to Asymptomatic Chronic Type A Aortic Dissection Which Was Difficult to Distinguish from Acute Type A Aortic Dissection / 日本心臓血管外科学会雑誌

Aortic dissection presents with acute chest or back pain. However, it can be asymptomatic in the acute phase with delayed symptomatic presentation or incidental diagnosis upon chest imaging. We report a case of acute type B aortic dissection subsequent to chronic type A aortic dissection which was difficult to distinguish from acute type A aortic dissection. A 45-year-old man was admitted to a hospital with sudden back pain. An enhanced chest CT revealed a suspected acute type A aortic dissection. The patient was transferred to our hospital and we performed an emergent total arch replacement. Intraoperative findings showed that there were two entries at the origin of the brachiocephalic artery and the left subclavian artery. The ascending aorta presented wall thickening but the descending aorta did not present wall thickening. Histopathologically, the adventitia was obviously thickened with dissection findings in the tunica media. Thus it was diagnosed as acute type B aortic dissection subsequent to chronic type A aortic dissection. Great caution should be taken in asymptomatic chronic aortic dissection.