[Analysis of clinical and genetic characteristics of the severe liver disease phenotype in patients with hepatolenticular degeneration].

Objective: To investigate the clinical and genetic characteristics and predictive role of the severe liver disease phenotype in patients with hepatolenticular degeneration (HLD). Methods: Inpatients with HLD confirmed at Xinhua Hospital affiliated with Shanghai Jiao Tong University School of Medicine from January 1989 to December 2022 were selected as the research subjects. Clinical classification was performed according to the affected organs. Patients with liver disease phenotypes were classified into the liver disease group and further divided into the severe liver disease group and the ordinary liver disease group. The clinical characteristics and genetic variations were compared in each group of patients. The predictive indicators of patients with severe liver disease were analyzed by multiple regression. Statistical analysis was performed using the t-test, Mann-Whitney U test, or χ(2) test according to different data. Results: Of the 159 HLD cases, 142 were in the liver disease group (34 in the severe liver disease group and 108 in the ordinary liver disease group), and 17 were in the encephalopathy group. The median age of onset was statistically significantly different between the liver disease group and the encephalopathy group [12.6 (7.0, 13.3) years versus 16.9 (11.0, 21.5) years, P<0.01]. 156 ATP7B gene mutation sites were found in 83 cases with genetic testing results, of which 54 cases carried the p.Arg778Leu gene mutation (allele frequency 46.2%). Compared with patients with other types of gene mutations (n=65), patients with homozygous p.Arg778Leu mutations (n=18) had lower blood ceruloplasmin and albumin levels, a higher prognostic index, Child-Pugh score, an international normalized ratio, and prothrombin time (P<0.05). Hemolytic anemia, corneal K-F ring, homozygous p.Arg778Leu mutation, and multiple laboratory indexes in the severe liver disease group were statistically significantly different from those in the ordinary liver disease group (P<0.05). Multivariate logistic regression analysis showed that the predictive factors for severe liver disease were homozygous p.Arg778Leu mutation, total bilirubin, and bile acids (ORs=16.512, 1.022, 1.021, 95% CI: 1.204-226.425, 1.005-1.039, and 1.006-1.037, respectively, P<0.05). The drawn ROC curve demonstrated a cutoff value of 0.215 3, an AUC of 0.953 2, and sensitivity and specificity of 90.91% and 92.42%, respectively. Conclusion: Liver disease phenotypes are common in HLD patients and have an early onset. Total bilirubin, bile acids, and the homozygous p.Arg778Leu mutation of ATP7B is related to the severity of liver disease in HLD patients, which aids in predicting the occurrence and risk of severe liver disease.

Treatment of refractory or relapsed myelodysplastic neoplasms with luspatercept: a multicenter Chinese study.

Few effective therapies are available to treat patients with relapsed/refractory myelodysplastic neoplasms (MDS). Luspatercept was shown to display good efficacy in a phase 3 clinical trial for lower-risk MDS (LR-MDS) patients, yet real-world data are limited, especially in China. Therefore, data from patients diagnosed as having MDS with low blasts and SF3B1 mutation (MDS-SF3B1) and MDS with SF3B1 mutation and thrombocytosis were retrospectively analyzed. Of the 23 enrolled patients, 17 (73.9%) were males (median age 67 years: range 29 to 80 years). Previously, a total of 22 (95.7%) patients had received recombinant human erythropoietin (rhEPO), 9 (39.1%) roxadustat, 7 (30.4%) lenalidomide and 3 (13.0%) hypomethylating agents (HMA). The median treatment time was 22.9 weeks (9.0-32.4). At week 12, 60.9% (14/23) of the patients achieved a hematologic improvement-erythroid (HI-E) response. Red blood cell transfusion independence (RBC-TI) for ≥ 8 weeks was found in 57.1% (8/14) of transfusion-dependent patients. The median hemoglobin concentration was 84 g/L, and patients had significantly higher hemoglobin concentrations after 12 weeks of treatment (P < 0.001). It is noteworthy that responders had a greater reduction in serum ferritin (P = 0.021). Those with serum EPO < 500 IU/L at baseline tended to have a higher HI-E rate (P = 0.081), but only patients in non-transfusion and low transfusion burden (LTB) subgroups had statistical differences (P = 0.024). The most commonly occurring adverse events were blood bilirubin increase (17.4%), fatigue (13.0%) and dizziness (13.0%). Luspatercept was effective and tolerated well in refractory LR-MDS-SF3B1 patients. In particular, baseline non-transfusion and LTB patients exhibited a greater response rate to treatment.

Factors predicting failure of internal fixations of fractures of the lower limbs: a prospective cohort study.

BACKGROUND: We assessed predictive factors of patients with fractures of the lower extremities caused by trauma. We examined which factors are associated with an increased risk of failure. Furthermore, the predictive factors were set into context with other long-term outcomes, concrete pain and physical functioning. METHODS: We performed a prospective cohort study at a single level I trauma center. We enrolled patients with traumatic fractures of the lower extremities treated with internal fixation from April 2017 to July 2018. We evaluated the following predictive factors: age, gender, diabetes, smoking status, obesity, open fractures and peripheral arterial diseases. The primary outcome was time to failure (nonunion, implant failure or reposition). Secondary outcomes were pain and physical functioning measured 6 months after initial surgery. For the analysis of the primary outcome, we used a stratified (according fracture location) Cox proportional hazard regression model. RESULTS: We included 204 patients. Overall, we observed failure in 33 patients (16.2 %). Most of the failures occurred within the first 3 months. Obesity and open fractures were associated with an increased risk of failure and decreased physical functioning. None of the predictors showed an association with pain. Age, female gender and smoking of more than ≥ 10 package years increased failure risk numerically but statistical uncertainty was high. CONCLUSIONS: We found that obesity and open fractures were strongly associated with an increased risk of failure. These predictors seem promising candidates to be included in a risk prediction model and can be considered as a good start for clinical decision making across different types of fractures at the lower limbs. However, large heterogeneity regarding the other analyzed predictors suggests that "simple" models might not be adequate for a precise personalized risk estimation and that computer-based models incorporating a variety of detailed information (e.g. pattern of injury, x-ray and clinical data) and their interrelation may be required to significantly increase prediction precision. TRIAL REGISTRATION: NCT03091114 .

Clinical factors predicting ureteral stent failure in patients with external ureteral compression.

Double-J stent (DJ) placement is usually the treatment of choice for relieving external compression of the ureter. However, in some cases DJ function may become impaired and a percutaneous nephrostomy (PCN) may be required. Previous studies have reported different predictive factors for choosing PCN or DJ insertion as the initial treatment. In this study, we analyzed the risk factors for DJ failure in patients with external ureteral compression. Our results showed that the patients with moderate and severe hydronephrosis (p-value = 0.0171 and 0.0249, respectively), preexisting pyuria (p-value = 0.0128), or lower ureter obstruction (p-value = 0.0305) were more prone to DJ laterality. Age was also an important predictor. Urologists should pay more attention to these patients and consider PCN as the initial treatment.

Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia.

Despite the progress in perinatal care, perinatal asphyxia (PA) remains a significant problem in neonatology. The development of therapeutic hypothermia (TH) has improved the prognosis, but it still remains uncertain in hypoxic neonates. The evaluation of the severity of ischemia/hypoxia after birth is crucial to the choice of treatment, and with accurate long-term prognosis, appropriate further patient care can be planned. This article presents various methods for the preliminary assessment of brain damage and prognosis in newborns with PA treated with TH. The importance of assessing the neurological condition and the usefulness of laboratory and electrophysiological testing and imaging are discussed. New methods are also noted, which are at the stage of clinical trials. A combination of the prognostic tests presented in this article can provide greater prognostic accuracy for predicting long-term neurological outcomes in infants with hypoxic-ischemic encephalopathy (HIE) undergoing TH than either of these tests independently. Acknowledging the limitations of individual tools in certain clinical situations and the integration of the information available from multiple biomarkers may help improve the accuracy of prognostication.

Alveolar bone remodeling during maxillary incisor intrusion and retraction.

BACKGROUND: Maxillary incisor protrusion is a prevalent dental deformity and is often treated by upper incisor intrusion and retraction. The mechanical loading triggers the resorption and apposition of the bone. Alveolar bone remodeling is expected to follow orthodontic tooth movement in a one-to-one relationship. However, in many cases, the outcomes are different. Alveolar bone might still remain thick causing lip protrusion and other aesthetic problems after treatment. Additional corrective procedures such as alveoloplasty. On the other hand, if the labial bone becomes too thin, periodontal problems like gingival recession might occur. The unpredictability of the treatment result and the risk of requiring corrective procedures pose significant challenges to both the providers and patients. The aim of this study is to determine factors that can help to predict the alveolar bone reaction before maxillary incisor intrusion and retraction. METHODS: The cohort included 34 female patients (mean age 25.8 years) who were diagnosed with skeletal class II malocclusion with upper incisor protrusion. These patients underwent extraction and orthodontic treatment with upper incisor intrusion and retraction. Lateral cephalograms at pre-treatment and post-treatment were taken. Linear and angular measurements were analyzed to evaluate the alveolar bone changes based on initial conditions. RESULTS: The study found that the relative change, calculated as change in alveolar bone thickness after treatment divided by the initial alveolar thickness, was inversely correlated with the initial thickness. There was a significant increase of labial alveolar bone thickness at 9-mm apical from cementoenamel junction (B3) (P < 0.05) but no statistically significant change in the thickness at other levels. In addition, the change in angulation between the incisor and alveolar bone was inversely correlated with several initial angulations: between the initial palatal plane and upper incisor angle, between the initial palatal plane and upper incisor labial surface angle, and between the initial palatal plane and bone labial surface angle. On the other hand, the change in labial bone thickness was neither significantly correlated with the initial thickness nor significantly correlated to the amount of retraction. CONCLUSION: The unpredictability of alveolar bone remodeling after upper incisor intrusion and retraction poses significant challenges to treatment planning and patient experience. The study showed that the initial angulation between the incisor and alveolar bone is correlated with the change in angulation after treatment, the initial thickness of the alveolar bone was correlated with the relative change of the alveolar bone thickness (defined as change in thickness after treatment divided by its initial thickness), and the amount of intrusion was correlated with the alveolar bone thickness change at 9-mm apical from the cementoenamel junction after treatment. The results of the present study also revealed that the change in labial alveolar bone thickness was neither significantly correlated with the initial thickness nor significantly correlated to the amount of retraction.

[Prognostic importance of the psychopathological remission structure at the initial stage of schizophrenia]. / Prognosticheskoe znachenie psikhopatologicheskoi struktury remissii na nachal'nom étape shizofrenii.

AIM: To identify main clinical and psychopathological models of remission in the initial stage of schizophrenia which were correlated with subsequent clinical and social prognosis. MATERIAL AND METHODS: The sample consisted of 116 patients diagnosed with paroxysmal-progressive schizophrenia (ICD-10 items F20.01-F20.09) in remission after the first or second episode. Clinical-psychopathological, psychometric (SPI-A), statistical methods were used. The separation of remissions in the initial stage of schizophrenia was based on the principle of longitudinal observation with estimation of correlations between deficit disorders and positive symptoms. RESULTS AND CONCLUSION: Depending on the predominance of one of the factors of the deficit symptom complex, the following modules were identified: remissions with domination of deficit expression factor and remissions with deficit apathy factor, which were correlated with the clinical and social prognosis.

[Prognostic significance of early phase donor chimerism after allogeneic peripheral blood stem cell transplantation].

Objective: To evaluate the prognostic significance of early phase full donor chimerism (FDC) after myeloablative allogeneic peripheral blood stem cell transplantation (allo-PBSCT). Methods: The clinical data of 72 hematological patients received myeloablative allo-PBSCT from Feb. 2016 to Jul. 2017 were analyzed retrospectively. The median age was 36.5 years (range 4-59), 44 were males and 28 females. Of the donors, there were 35 HLA matched sibling donors, 27 haploidentical donors and 10 unrelated donors. Polymerase chain reaction amplification of short tandem repeat sequence (PCR-STR) was used to detect donor cell chimerism (DC) rate of recipient bone marrow at one, two and three months after transplantation. Results: The median follow-up was 462 d (range: 47-805 d), 55 cases were still alive, and 45 cases were disease-free survival (DFS) at the end of follow-up. The 2-year overall survival (OS) and DFS were (68.9±7.7)% and (59.5±6.3)%, respectively. A number of 16 cases underwent relapses, with 2-year cumulative incidence of (24.1±5.3)%. The median time of recurrence was 157(32-374) d. Forty cases (55.6%) developed acute graft-versus-host diseases (aGVHD), with median time of 35.5 (13-90) d. Chronic GVHD (cGVHD) occurred in 23 patients (31.9%), with median time of 169 (94-475) d. Univariate analysis found the following factors were not related to OS, DFS or relapse rate (RR), including age, sex, blood type and sex of donor-recipient, occurrence of aGVHD and cGVHD. The OS and DFS in cases reached FDC and no FDC at two months after transplantation were (85.2±6.9)% vs (66.1±7.7)% (P=0.051) and (76.7±7.7)% vs (48.9±8.1)% (P=0.021), respectively. The RR rate in FDC group was lower than that in no FDC group [(16.6±6.8)% vs (30.4±7.8)%, P=0.187, respectively]. Conclusion: The present study confirmed the important value for predicting the prognosis with whether or not the patients reached FDC at the early phase after allo-PBSCT. The OS and DFS in cases with FDC at two months after transplantation were significantly higher than those of no FDC patients.

Análisis estadístico implicativo para la identificación de factores pronósticos de la mortalidad por cáncer de próstata / Statistical analysis involving mortality prediction factors for the identification of prostate cancer

Se efectuó una investigación observacional y analítica, desde septiembre de 2013 hasta igual mes de 2014, con el fin de evaluar la utilidad de una nueva técnica de análisis estadístico implicativo para la identificación de los factores pronósticos de la mortalidad por cáncer de próstata en la provincia de Santiago de Cuba. Según la regresión logística, los factores que empeoraron el pronóstico en los pacientes con cáncer de próstata fueron la afectación ganglionar y el grado III de la diferenciación histológica, y según el análisis estadístico implicativo, lo hicieron la afectación ganglionar, las metástasis y las complicaciones. El análisis estadístico implicativo complementó a la regresión logística en la identificación de los factores pronósticos, con lo cual se logró una mejor comprensión de la causalidad y se elevó la calidad de este tipo de estudio

An observational and analytic investigation was carried out, from September, 2013 to the same month in 2014, with the purpose of evaluating the usefulness of a new technique of involving statistical analysis for the identification of mortality prediction factors for prostate cancer in Santiago de Cuba. According to the logistical regression, the factors that worsened the prediction in the patients with prostate cancer were the ganglionic disorder and the grade III of the histological differentiation, and according to the involving statistical analysis, the ganglionar disorder, the metastasis and complications. The involving statistical analysis supplemented the logistical regression in the identification of the prediction factors, with which a better understanding of the causation was achieved and there was an increase in the quality of this type of study

Prognostic significance of early phase donor chimerism after allogeneic peripheral blood stem cell transplantation / 中华血液学杂志

Objective: To evaluate the prognostic significance of early phase full donor chimerism (FDC) after myeloablative allogeneic peripheral blood stem cell transplantation (allo-PBSCT). Methods: The clinical data of 72 hematological patients received myeloablative allo-PBSCT from Feb. 2016 to Jul. 2017 were analyzed retrospectively. The median age was 36.5 years (range 4-59), 44 were males and 28 females. Of the donors, there were 35 HLA matched sibling donors, 27 haploidentical donors and 10 unrelated donors. Polymerase chain reaction amplification of short tandem repeat sequence (PCR-STR) was used to detect donor cell chimerism (DC) rate of recipient bone marrow at one, two and three months after transplantation. Results: The median follow-up was 462 d (range: 47-805 d), 55 cases were still alive, and 45 cases were disease-free survival (DFS) at the end of follow-up. The 2-year overall survival (OS) and DFS were (68.9±7.7)% and (59.5±6.3)%, respectively. A number of 16 cases underwent relapses, with 2-year cumulative incidence of (24.1±5.3)%. The median time of recurrence was 157(32-374) d. Forty cases (55.6%) developed acute graft-versus-host diseases (aGVHD), with median time of 35.5 (13-90) d. Chronic GVHD (cGVHD) occurred in 23 patients (31.9%), with median time of 169 (94-475) d. Univariate analysis found the following factors were not related to OS, DFS or relapse rate (RR), including age, sex, blood type and sex of donor-recipient, occurrence of aGVHD and cGVHD. The OS and DFS in cases reached FDC and no FDC at two months after transplantation were (85.2±6.9)% vs (66.1±7.7)% (P=0.051) and (76.7±7.7)% vs (48.9±8.1)% (P=0.021), respectively. The RR rate in FDC group was lower than that in no FDC group [(16.6±6.8)% vs (30.4±7.8)%, P=0.187, respectively]. Conclusion: The present study confirmed the important value for predicting the prognosis with whether or not the patients reached FDC at the early phase after allo-PBSCT. The OS and DFS in cases with FDC at two months after transplantation were significantly higher than those of no FDC patients.

Prognostic significance of early phase donor chimerism after allogeneic peripheral blood stem cell transplantation / 中华血液学杂志

Objective@#To evaluate the prognostic significance of early phase full donor chimerism (FDC) after myeloablative allogeneic peripheral blood stem cell transplantation (allo-PBSCT).@*Methods@#The clinical data of 72 hematological patients received myeloablative allo-PBSCT from Feb. 2016 to Jul. 2017 were analyzed retrospectively. The median age was 36.5 years (range 4-59), 44 were males and 28 females. Of the donors, there were 35 HLA matched sibling donors, 27 haploidentical donors and 10 unrelated donors. Polymerase chain reaction amplification of short tandem repeat sequence (PCR-STR) was used to detect donor cell chimerism (DC) rate of recipient bone marrow at one, two and three months after transplantation.@*Results@#The median follow-up was 462 d (range: 47-805 d), 55 cases were still alive, and 45 cases were disease-free survival (DFS) at the end of follow-up. The 2-year overall survival (OS) and DFS were (68.9±7.7)% and (59.5±6.3)%, respectively. A number of 16 cases underwent relapses, with 2-year cumulative incidence of (24.1±5.3)%. The median time of recurrence was 157(32-374) d. Forty cases (55.6%) developed acute graft-versus-host diseases (aGVHD), with median time of 35.5 (13-90) d. Chronic GVHD (cGVHD) occurred in 23 patients (31.9%), with median time of 169 (94-475) d. Univariate analysis found the following factors were not related to OS, DFS or relapse rate (RR), including age, sex, blood type and sex of donor-recipient, occurrence of aGVHD and cGVHD. The OS and DFS in cases reached FDC and no FDC at two months after transplantation were (85.2±6.9)% vs (66.1±7.7)% (P=0.051) and (76.7±7.7)% vs (48.9±8.1)% (P=0.021), respectively. The RR rate in FDC group was lower than that in no FDC group [(16.6±6.8)% vs (30.4±7.8)%, P=0.187, respectively].@*Conclusion@#The present study confirmed the important value for predicting the prognosis with whether or not the patients reached FDC at the early phase after allo-PBSCT. The OS and DFS in cases with FDC at two months after transplantation were significantly higher than those of no FDC patients.

Factores pronósticos de las complicaciones de las fístulas arteriovenosas autólogas para hemodiálisis / Prediction factors of the autologous arteriovenous fistula complications for hemodialysis

Se realizó un estudio retrospectivo, transversal y descriptivo, para determinar los factores pronósticos sobre la aparición de complicaciones en 300 pacientes con una fístula arteriovenosa creada, atendidos en el Servicio de Angiología y Cirugía Vascular del Hospital Provincial Docente "Saturnino Lora" de Santiago de Cuba durante el trienio 2012- 2015. Entre los resultados principales predominaron el sexo femenino (52,7%), el grupo etario de 51-60 años (55,6%), la hipertensión arterial y la diabetes mellitus como factores de riesgo más comunes, así como la complicación de la FAV a nivel de la muñeca, principalmente en las féminas (34,2 %). Se concluyó que las complicaciones de la fístula arteriovenosa dependen de la presencia o no de factores de riesgo, que pueden ser un marcador negativo que afecta la calidad de vida del paciente y por sí mismos determinan el tiempo de supervivencia.

A retrospective, cross-sectional and descriptive study was carried out, to determine the prediction factors about the emergence of complications in 300 patients with a created arteriovenous fistula, assisted in the Angiology and Vascular Surgery Service of "Saturnino Lora" Teaching Provincial Hospital in Santiago de Cuba during the triennium 2012 - 2015. Among the main results the female sex (52.7%), the 51-60 age group (55.6%), hypertension and diabetes mellitus prevailed as the most common risk factors, as well as the AVF complication at wrist level, mainly in females (34.2%). It was concluded that the arteriovenous fistula complications depend on the presence or not of risk factors that can be a negative marker that affects the patient's life quality and per se determine the survival time.

Análisis estadístico implicativo para la identificación de factores pronósticos de la mortalidad por cáncer de pulmón / Statistical analysis involving the identification of mortality prediction factors due to lung cancer

Se realizó un estudio observacional y analítico para evaluar la utilidad de una nueva técnica de análisis estadístico implicativo en la identificación de los factores pronósticos de una entidad clínica en la provincia de Santiago de Cuba, de septiembre de 2013 a igual mes de 2014, en cuyo caso fue seleccionado el cáncer de pulmón por ser la neoplasia maligna más frecuente en el territorio. Como factores pronósticos de tumores pulmonares, según la regresión logística fueron identificados la afectación ganglionar, la presencia de metástasis y la localización central del tumor, y según el análisis estadístico implicativo se detectaron la afectación ganglionar, la presencia de metástasis, el grado III de diferenciación histológica y el estadio avanzado. El análisis estadístico implicativo resultó ser una técnica apropiada que complementa a la regresión logística en la identificación de factores pronósticos, pues se logra una mejor comprensión de la causalidad y eleva la calidad de este tipo de investigación.

An observational and analytic study to evaluate the usefulness of a new technique of statistical analysis involving the prediction factors identification of a clinical entity in Santiago de Cuba, was carried out from September, 2013 to the same month in 2014, in this case lung cancer was selected for being the most frequent malignancy in the territory. As prediction factors of lung tumors, according to the logistical regression the nodular involvement, the metastasis and the central localization of the tumor were identified, and according to the statistical involving analysis, the nodular involvement, and metastasis, histologic differentiation stage III and advanced stage were detected. The statistical involving analysis turned out to be an appropriate technique that supplements logistical regression in the prediction factors identification, because a better understanding of the causation is achieved and the quality of this investigation increases.

Factores de riesgo relacionados con las infecciones posoperatorias / Risk factors related to the postoperative infections

Se realizó una investigación descriptiva y observacional, de serie de casos, basada en los 258 pacientes que presentaron complicaciones posoperatorias infecciosas, tras habérseles practicado intervenciones quirúrgicas, tanto de forma electiva como urgente, en el período comprendido desde enero de 2012 hasta diciembre de 2014. Entre los principales resultados se obtuvo un predominio de los pacientes mayores de 60 años (38,4 %) y operados con urgencia (82,1 %); razón por la cual se observó que las intervenciones clasificadas como contaminadas (43,4 %) y sucias (23,6 %) ocuparon un lugar importante en la génesis de esta complicación. También fue más frecuente la infección del sitio operatorio superficial (55,5 %) respecto al resto de las localizaciones. Se pudo concluir que factores como el nivel de contaminación de la intervención, el tiempo quirúrgico prolongado, el estado físico preoperatorio en las clases II y III de la American Society of Anesthesiology, el tipo de operación y la edad del paciente, fueron decisivos en la aparición de las infecciones posquirúrgicas.

A descriptive and observational serial cases investigation, based on the 258 patients that presented infectious postoperative complications, after undergoing surgical interventions, either in an elective way or as an emergency, was carried out from January, 2012 to December, 2014. Among the main results there was a prevalence of the patients older than 60 (38.4%) and those undergone surgery as an emergency (82.1%); reason why it was observed that the interventions classified as polluted (43.4%) and dirty (23.6%) occupied an important place in the genesis of this complication. It was also more frequent the infection of the superficial operative place (55.5%) regarding the rest of the localizations. It was concluded that factors as the intervention contamination level, the long-lasting surgical time, preoperative physical state in the classes II and III of the American Society of Anesthesiology, operation type and the patient's age, were decisive in the emergence of postsurgical infections.