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Spermatogenesis is a fundamental process that requires a tightly controlled epigenetic event in spermatogonial stem cells (SSCs). The mechanisms underlying the transition from SSCs to sperm are largely unknown. Most studies utilize gene knockout mice to explain the mechanisms. However, the production of genetically engineered mice is costly and time-consuming. In this study, we presented a convenient research strategy using an RNA interference (RNAi) and testicular transplantation approach. Histone H3 lysine 9 (H3K9) methylation was dynamically regulated during spermatogenesis. As Jumonji domain-containing protein 1A (JMJD1A) and Jumonji domain-containing protein 2C (JMJD2C) demethylases catalyze histone H3 lysine 9 dimethylation (H3K9me2), we firstly analyzed the expression profile of the two demethylases and then investigated their function. Using the convenient research strategy, we showed that normal spermatogenesis is disrupted due to the downregulated expression of both demethylases. These results suggest that this strategy might be a simple and alternative approach for analyzing spermatogenesis relative to the gene knockout mice strategy.
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Presently, the exposure of plasticizers to humans and animals occurs daily, which pose a potential threat to reproductive health. In the present study, a pregnant mouse model exposed to di(2-ethylhexyl) phthalate (DEHP, one of the most common plasticizers) and melatonin was established, and the single-cell transcriptome technology was applied to investigate the effects of melatonin in ovarian cells against DEHP. Results showed that DEHP markedly altered the gene expression pattern of ovarian cells, and severely weakened the histone methylation modification of oocytes. The administration of melatonin recovered the expression of LHX8 and SOHLH1 proteins that essential for primordial follicle formation, and increased the expression of CEBPB, as well as key genes of histone methylation modification (such as Smyd3 and Kdm5a). In addition, the ovarian damage caused by DEHP was also relieved after the overexpression of CEBPB, which suggested melatonin could improve primordial follicle formation progress via enhancing CEBPB expression in mice. Besides, the apoptosis of ovarian cells induced by DEHP also was diminished by melatonin. The study provides evidence of melatonin preventing the damage mediated by plasticizers on the reproductive system in females and CEBPB may serve as a downstream target factor of melatonin in the process.
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Dietilhexil Ftalato , Melatonina , Ácidos Ftálicos , Embarazo , Femenino , Humanos , Animales , Ratones , Melatonina/farmacología , Plastificantes/toxicidad , Dietilhexil Ftalato/toxicidad , Histonas , Oocitos , Proteína beta Potenciadora de Unión a CCAAT/farmacologíaRESUMEN
Zearalenone (ZEN) is a widespread and transgenerational toxicant that can cause serious reproductive health risks, which poses a potential threat to global agricultural production and human health; its estrogenic activity can lead to reproductive toxicity through the induction of granulosa cell apoptosis. Herein, comparative transcriptome analysis, single-cell transcriptome analysis, and weighted gene co-expression network analysis (WGCNA) combined with gene knockout in vivo and RNA interference in vitro were used to comprehensively describe the damage caused by ZEN exposure on ovarian granulosa cells. Comparative transcriptome analysis and WGCNA suggested that the tumor necrosis factor (TNF)-α-mediated mitogen-activated protein kinase 7 (MAP2K7)/ AKT serine/threonine kinase 2 (AKT2) axis was disordered after ZEN exposure in porcine granulosa cells (pGCs) and mouse granulosa cells (mGCs). In vivo gene knockout and in vitro RNA interference verified that TNF-α-mediated MAP2K7/AKT2 was the guiding signal in ZEN-induced apoptosis in pGCs and mGCs. Moreover, single-cell transcriptome analysis showed that ZEN exposure could induce changes in the TNF signaling pathway in offspring. Overall, we concluded that the TNF-α-mediated MAP2K7/AKT2 axis was the main signaling pathway of ZEN-induced apoptosis in pGCs and mGCs. This work provides new insights into the mechanism of ZEN toxicity and provides new potential therapeutic targets for the loss of livestock and human reproductive health caused by ZEN.
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Zearalenona , Animales , Femenino , Ratones , Apoptosis , MAP Quinasa Quinasa 7 , Proteína Quinasa 7 Activada por Mitógenos , Proteínas Proto-Oncogénicas c-akt/genética , Transducción de Señal , Porcinos , Transcriptoma , Factor de Necrosis Tumoral alfa/genética , Zearalenona/toxicidadRESUMEN
BACKGROUND: This study aimed to compare the predictive value of two diagnostic criteria for bronchopulmonary dysplasia (BPD) in preterm infants with gestational age (GA) < 32 weeks for death or severe respiratory morbidity at corrected age of 18-24 months. METHODS: In this retrospective cohort study, clinical data from July 2019 to September 2021 were classified by 2018 National Institute of Child Health and Human Development (NICHD) and 2019 Jensen definitions of BPD. Based on the follow-up results, the enrolled population was divided into adverse outcome group and normal outcome group. Logistic regression and receiver operating characteristic (ROC) curve analyses were conducted to explore the risk factors of adverse outcomes and evaluate the predictive value of both diagnostic criteria. RESULTS: Of 451 infants, 141 (31.3%) had adverse outcomes, which increased with increasing severity of BPD. Logistic regression analysis showed only BPD was an independent risk factor for adverse outcomes in preterm infants. ROC analysis revealed that both diagnostic criteria showed similar predictive values (2018 NICHD definition AUC = 0.771 vs. 2019 Jensen definition AUC = 0.770), with specificities of 93.5% and 96.8%, respectively; however, combining them separately with GA or birth weight did not improve their predictive values. CONCLUSIONS: The two novel definitions of BPD demonstrate similar predictive values in predicting death or severe respiratory morbidity at corrected age of 18-24 months, with higher specificity observed in both.
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Displasia Broncopulmonar , Recien Nacido Prematuro , Recién Nacido , Niño , Lactante , Humanos , Preescolar , Displasia Broncopulmonar/diagnóstico , Estudios Retrospectivos , Edad Gestacional , Peso al NacerRESUMEN
BACKGROUND: Erectile dysfunction is a common problem in males of couples experiencing pregnancy loss. Erectile dysfunction in males with couple infertile has been extensively investigated and found to be closely linked with semen quality impairment and psychological distress, but it is less clear if this relation exists in males of couples experiencing pregnancy loss. METHOD: A cross-sectional analysis of 437 men who attended our outpatient clinic between June 2021 and October 2021 for couple pregnancy loss. All subjects underwent a complete physical examination, palpation, inspection of the male genitalia, and semen analysis. Validated assessment tools for erectile dysfunction (the International Index of Sexual Function5 -IIEF-5) and anxiety (the seven-item Generalized Anxiety Disorder Scale- GAD-7) were used. RESULTS: Among 437 men of couples with pregnancy loss, we found several relevant sperm parameters confirmed a significant correlation between IIEF-5 scores and sperm parameters, including: sperm progressive motility (r = 0.1627, p = 0.001), sperm normal morphology (r = 0.1373, p = 0.004) and sperm DNA fragmentation (r =-0.1248, p = 0.009). Males with an IIEF-5 scores range between 5-11 presented the worst results in terms of sperm progressive motility (p = 0.002), normal morphology (p = 0.001), and SDF levels (p = 0.003). GAD-7 score, as well as anxiety level, was significantly higher in those males with an IIEF-5 score between 5 and 11 (p = 0.000). CONCLUSION: Although current evidence does not demonstrate the importance of spermatozoa in the etiology of pregnancy loss, significant correlations have been observed between impaired sperm quality and low IIEF-5 scores. Also, anxiety is more likely to occur in males with sexual dysfunction.
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Aborto Espontáneo , Disfunción Eréctil , Infertilidad Masculina , Embarazo , Femenino , Masculino , Humanos , Análisis de Semen , Estudios Transversales , Disfunción Eréctil/diagnóstico , Disfunción Eréctil/epidemiología , Semen , Espermatozoides , Aborto Espontáneo/epidemiologíaRESUMEN
SCOPE: Tea is a popular beverage worldwide and has many health functions. Protocatechuic acid (PCA) is an important bioactive component of tea and has benefit to health. In some cases, oocytes after ovulation may miss the optimal fertilization time and enter a postovulatory ageing process. Therefore, to investigate the role of PCA in delaying oocyte ageing is aimed. METHODS AND RESULTS: Metaphase II (MII) oocytes aged in vitro are randomly divided into three groups: control, aged, and aged + PCA. PCA treatment (30 µM) reduces the fragmentation rate and the incidence of abnormal spindle morphology and chromosome misalignment of oocytes aged 24 h in vitro. The mitochondrial dysfunction of aged oocytes, such as decreased mitochondrial membrane potential and excessive accumulation of reactive oxygen (ROS), is also alleviated by PCA. PCA also delays apoptosis of aged oocytes, and improves the sperm binding capacity. Otherwise, aged oocytes treated with PCA have a higher fertilization rate and blastocyst rate compared with untreated aged oocytes in vitro. CONCLUSION: PCA is an important bioactive ingredient of tea that improves aged oocyte quality, suggesting that PCA is available to improve the quality of aged oocytes in vitro.
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Envejecimiento , Semen , Femenino , Masculino , Animales , Ratones , Oocitos/metabolismo , Té/metabolismoRESUMEN
BACKGROUND: Infertile men with higher sexual dysfunction risk and increased psychological burden, were also associated with more inclined to timed intercourse. Decreased semen quality may have adverse effects on male sexual function. However, it is also likely that many of these sequences do not play a direct role, those negative consequences may depend mainly on the later failed attempting pregnancy. Research is limited in this area. METHODS: This cross-sectional study was based on a group of 509 men who were assessed for couple's infertility at the First Hospital of Jilin University between June 2021 and October 2021. All the men completed a comprehensive questionnaire, and then were divided in two groups. Group A included patients who either never received a routine infertility work-up or done so recently within the last 6 months. Group B included patients who previously received a sperm quality assessment at least 6 months or more prior. Patients were further categorized into three subgroups according to the severity of the decreases in their sperm parameters: severe, mild-moderate, and normozoospermic. RESULTS: The prevalence of erectile dysfunction was higher in Group B Mild-Moderate and Group B Severe in comparison to Group A (OR=1.86 [1.07-3.24], P = 0.027; OR=5.312 [2.69-10.49], P < 0.001, respectively). No significant differences were found between Group A and Group B-normozoospermic. Similar results were observed in the prevalence of premature ejaculation between the groups. Timed intercourse was seen in 11.8% (20/170) of men in Group A and 16.2% (19/117) in Group B-normozoospermic. It was more commonly practiced among infertile men in Group B-Mild-Moderate and Group B Severe, as 28.2% (44/156) and 25.7% (17/66) of these couples had attempted to conceive through timed intercourse (P < 0.001). CONCLUSIONS: Our findings indicate that the severity of sperm quality impairment was negatively associated with sexual dysfunction only in infertile men who with known impairment of sperm quality for a long period. Timed intercourse was more common among these couples. For those individuals had never test their sperm quality, although more than half of these patients showed a decrease in sperm quality, the incidence of sexual dysfunction is relatively low and were comparable to those men examined previously known as normozoospermic.
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Infertilidad Masculina , Disfunciones Sexuales Fisiológicas , Estudios Transversales , Hospitales , Humanos , Incidencia , Masculino , Semen , Análisis de Semen , Disfunciones Sexuales Fisiológicas/epidemiología , EspermatozoidesRESUMEN
BACKGROUND: Craniopharyngioma is a benign tumor that usually develops in children; however, it is located in the center and close to sensitive structures, such as the pituitary gland and hypothalamus. As the hypothalamus plays a crucial role in the homeostasis of anterior pituitary hormone synthesis, damage to the hypothalamus leads to multiple pituitary hormone deficiencies and non-alcoholic fatty liver disease, including hepatopulmonary syndrome (HPS). HPS has limited treatment and poor prognosis. CASE SUMMARY: A girl aged 13 years and 6 mo underwent surgery for craniopharyngioma 6 years prior. Right craniotomy was performed with total resection via the corpus callosum approach, and the tumor at the base was approximately 3.5 cm × 3.5 cm × 4.0 cm. At 1 year postoperatively, she exhibited abdominal distension and weakness, and the laboratory tests revealed fatty liver disease. Thereafter, she had not visited the outpatient clinic for 2 years. Two years ago, she developed decreased activity endurance, severe cyanosis, chest tightness, wheezing, and intermittent and recurrent low fever after mild physical labor. Hepatobiliary ultrasonography, liver biopsy, and contrast echocardiography of the right heart showed cirrhosis and multiple pituitary hormone deficiencies, indicating HPS. After 1 year of treatment with recombinant human growth hormone, the liver function and oxygenation improved; she did not undergo liver transplantation. CONCLUSION: Craniopharyngioma surgery can easily cause hypopituitarism, which can lead to nonalcoholic steatohepatitis and HPS in children. Early growth hormone therapy is important to improve the prognosis of these diseases.
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Mongolian horses have been bred and used for labor and transport for centuries. Nevertheless, traits of testicular development in Mongolian horses have rarely been studied; particularly, studies regarding the transcriptional regulation characteristics of testicular development are lacking. In this paper, transcription specificity during testicular development in Mongolian horses is highlighted via a multispecies comparative analysis and weighted gene co-expression network analysis (WGCNA). Interestingly, the results showed that most genes were up-regulated in the testes after sexual maturity, which is a phenomenon conserved across species. Moreover, we observed nine key genes involved in regulating Mongolian horse testicular development. Notably, unique transcription signatures of testicular development in Mongolian horses are emphasized, which provides a novel insight into the mechanistic study of their testicular development.
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Testículo , Masculino , Animales , Caballos/genética , FenotipoRESUMEN
OBJECTIVE: The aim of this proof-of-concept study is to develop a predictive model based on deep learning algorithms to predict working alliances after the first therapeutic session and to provide a basis for clinical decisions. METHODS: Using a sample of 325 patients and 32 psychotherapists from three university counseling centers, a deep learning algorithm known as fully connected neural networks (FCNNs) was adopted to construct data-driven predictive models. The performance differences between the model including only patient indicators and the model including both patient and therapist indicators were compared. The optimal model was further tested in a general hospital sample of 85 patients and 8 therapists. RESULTS: The model incorporating both patient indicators and therapist-level indicators (R²: 0.30 ± 0.02) performed better than the model incorporating only patient indicators (R²: 0.11 ± 0.02). The performance of this model decreased when being transferred to the independent general hospital sample, but still retained some predictive value (R² = 0.11). CONCLUSION: This study showed that the inclusion of therapist-level indicators can improve the performance of a predictive model in predicting working alliances. This model could assist clinical decisions on choosing psychotherapists for patients and may also initiate new possibilities for future research.
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Aprendizaje Profundo , Relaciones Profesional-Paciente , Humanos , Psicoterapia , Psicoterapeutas , Prueba de Estudio ConceptualRESUMEN
OBJECTIVE: To investigate the toxicity management and efficacy evaluation of BCMA-chimeric antigen receptor T cells(CART) in the treatment of relapsed and refractory multiple myeloma (MM). METHODS: The efficacy and adverse reactions of 21 patients with MM who received BCMA-CART treatment at the First Affiliated Hospital of Wenzhou Medical University from December 2017 to September 2020 were evaluated, and the efficacy assessment and survival analysis for high-risk patients and non-high-risk patients were evaluated. RESULTS: After infusion of BCMA-CART cells in 21 MM patients, the number of effective cases was 17, of which the complete remission (sCR/CR) was 10, and the partial remission (VGPR/PR) was 7. The median OS time for all patients was 19.4 months, and the median PFS time was 7.9 months. The number of patients with extramedullary disease(EMD), high-risk genetics, and ISS stage â ¢ were 5, 15 and 8, and the effective number was 3, 11 and 6, respectively. The treatment of 3 patients without high-risk factors was effective. The median OS and median PFS of patients with EMD were 14.2 and 2.5 months, respectively, which were shorter than those of patients without EMD (19.4 months and 8.9 months, respectively). The median OS and median PFS of patients with high-risk cytogenetic factors and ISS â ¢ were not significantly different from those of non-high-risk patients. Cytokine release syndrane (CRS) occurred in 20 patients, of which 14 cases were Grade 1 CRS, while 6 were Grade 2, no CRS of Grade 3 or above occurred. IL-6 receptor inhibitors were used in 9 patients. All CRS were controlled effectively, and no patients had neurological toxicity. CONCLUSION: BCMA-CART is a certain curative effect in the treatment of relapsed and refractory multiple myeloma, and the adverse reactions can be well controlled through close monitoring and timely treatment.
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Mieloma Múltiple , Receptores Quiméricos de Antígenos , Antígeno de Maduración de Linfocitos B , Humanos , Inmunoterapia Adoptiva/efectos adversos , Mieloma Múltiple/terapia , Inducción de RemisiónRESUMEN
Cyanobacteriochromes are the extended family of phytochrome photosensors characterized in cyanobacteria. Alr1966g2C56A is a cyanobacteriochrome mutant of Alr1966g2 in Nostoc sp. PCC 7120 from freshwater. In this paper, we truncated ten residues in the N-terminus and ten residues in the C-terminus of Alr1966g2C56A and obtained truncated Alr1966g2C46A, termed as Alr1966g2C46A-tr. Alr1966g2C46A-tr binded covalently not only phycocyanobilin but also biliverdin via Cys74 of the conserved CH motif, and showed a significant improvement in binding-PCB efficiency in E. coli, compared with that of untruncated Alr1966g2C56A. We also captured a persistent red fluorescence of Alr1966g2C46A-tr-PCB or Alr1966g2C46A-tr-BV expressed in live E. coli. Thus, Alr1966g2C46A-tr was suitable for the stable red fluorescent probe as a starting material.
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Biliverdina/química , Cianobacterias/química , Proteínas Luminiscentes/análisis , Ficobilinas/química , Ficocianina/química , Fitocromo/química , Proteína Fluorescente RojaRESUMEN
OBJECTIVE: Olfactory deficits have been reported in bipolar disorder, but this finding is controversial. This study investigated whether olfactory deficit can serve as a specific marker for bipolar disorder by comparing olfactory function in different mood episodes of bipolar disorder. We also compared olfactory function in bipolar disorder and other mental disorders - namely, major depressive disorder and schizophrenia. METHODS: The study consisted of two experiments. Experiment 1 enrolled 175 bipolar disorder patients (70 depressed subgroup, 70 manic subgroup and 35 euthymic subgroup) and 47 controls. Experiment 2 enrolled the participants from Experiment 1, along with 85 major depressive disorder and 90 schizophrenia patients. The Sniffin' Sticks test was used to evaluate odour identification ability and odour threshold (as a measure of odour sensitivity). The Hamilton Depression Rating Scale and Young Mania Rating Scale were used to assess depressive symptoms in all subjects and manic symptoms in bipolar disorder patients, respectively. We also used the Positive and Negative Syndrome Scale to assess clinical symptoms in schizophrenia patients. RESULTS: All three bipolar disorder patient subgroups (depressed, manic and euthymic subgroup) showed reduced odour identification ability compared to controls; however, only patients in the acute phase of a mood episode (depressed, and manic subgroup) showed impaired odour sensitivity. Clinical symptoms were negatively correlated with odour sensitivity but not odour identification ability. Bipolar disorder and major depressive disorder patients showed less odour identification and sensitivity impairment than schizophrenia patients. CONCLUSION: Odour sensitivity is a potential dopaminergic marker for distinguishing between bipolar disorder patients in acute phase vs remission, while odour identification is a trait but a nonspecific marker of bipolar disorder.
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Trastorno Bipolar , Trastorno Depresivo Mayor , Esquizofrenia , Biomarcadores , Trastorno Bipolar/diagnóstico , Trastorno Depresivo Mayor/diagnóstico , Humanos , Odorantes , Esquizofrenia/diagnósticoRESUMEN
BACKGROUND: The variability of metabolic biomarkers has been determined to provide incremental prognosis information, but the implications of electrolyte variability remained unclear. METHODS: We investigate the relationships between electrolyte fluctuation and outcomes in survivors of acute myocardial infarction (n = 4386). Ion variability was calculated as the coefficient of variation, standard deviation, variability independent of the mean (VIM) and range. Hazard ratios (HR) were estimated using the multivariable-adjusted Cox proportional regression method. RESULTS: During a median follow-up of 12 months, 161 (3.7%) patients died, and heart failure occurred in 550 (12.5%) participants after discharge, respectively. Compared with the bottom quartile, the highest quartile potassium VIM was associated with increased risks of all-cause mortality (HR = 2.35, 95% CI: 1.36-4.06) and heart failure (HR = 1.32, 95% CI: 1.01-1.72) independent of cardiac troponin I (cTnI), N terminal pro B type natriuretic peptide (NT-proBNP), infarction site, mean potassium and other traditional factors, while those associations across sodium VIM quartiles were insignificant. Similar trend remains across the strata of variability by other three indices. These associations were consistent after excluding patients with any extreme electrolyte value and diuretic use. CONCLUSIONS: Higher potassium variability but not sodium variability was associated with adverse outcomes post-infarction. Our findings highlight that potassium variability remains a robust risk factor for mortality regardless of clinical dysnatraemia and dyskalaemia.
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The microenvironment in the seminiferous tubules of buffalo changes with age, which affects the self-renewal and growth of spermatogonial stem cells (SSCs) and the process of spermatogenesis, but the mechanism remains to be elucidated. RNA-seq was performed to compare the transcript profiles of pre-pubertal buffalo (PUB) and adult buffalo (ADU) seminiferous tubules. In total, 17,299 genes from PUB and ADU seminiferous tubules identified through RNA-seq, among which 12,271 were expressed in PUB and ADU seminiferous tubules, 4,027 were expressed in only ADU seminiferous tubules, and 956 were expressed in only PUB seminiferous tubules. Of the 17,299 genes, we identified 13,714 genes that had significant differences in expression levels between PUB and ADU through GO enrichment analysis. Among these genes, 5,342 were significantly upregulated and possibly related to the formation or identity of the surface antigen on SSCs during self-renewal; 7,832 genes were significantly downregulated, indicating that genes in PUB seminiferous tubules do not participate in the biological processes of sperm differentiation or formation in this phase compared with those in ADU seminiferous tubules. Subsequently, through the combination with KEGG analysis, we detected enrichment in a number of genes related to the development of spermatogonial stem cells, providing a reference for study of the development mechanism of buffalo spermatogonial stem cells in the future. In conclusion, our data provide detailed information on the mRNA transcriptomes in PUB and ADU seminiferous tubules, revealing the crucial factors involved in maintaining the microenvironment and providing a reference for further in vitro cultivation of SSCs.
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Células Madre Germinales Adultas/fisiología , Búfalos/fisiología , Perfilación de la Expresión Génica/veterinaria , Maduración Sexual/fisiología , Animales , Regulación del Desarrollo de la Expresión Génica , Masculino , ARN Mensajero , Túbulos Seminíferos/citología , Túbulos Seminíferos/fisiologíaRESUMEN
Objective: Studies were conducted to develop and validate the Capacity for Psychotherapy Process Scale (CFPPS), a self-rating measure of capacity for the psychotherapy process from a trans-theoretical perspective. Method: In Study 1, a two-round Delphi methodology consulting 27 and 15 experts, respectively, was used to select items and identify content validity. In Study 2, 279 clients were recruited for exploratory factor analysis (EFA). In Study 3, confirmatory factor analysis and internal consistency analysis were conducted among 390 outpatients; the discriminant validity and predictive validity were studied in 270 outpatients and 82 psychotherapy outpatients, respectively. Results: The Delphi method resulted in 52 items. Through EFA, the CFPPS was reduced to 20 items, focusing on five factors: motivation, belief, self-revelation, persistence, and insight; the internal consistencies were good (0.92 for total scale and 0.82-0.91 for the factors). The CFPPS was not or was only weakly associated with symptoms. The Bonferroni-corrected partial correlation analyses revealed that the CFPPS was positively related to working alliance and session impact. Conclusions: The CFPPS is a preliminary step toward the self-report assessment of the capacity for psychotherapy process from a trans-theoretical perspective and may potentially be used to predict the working alliance and session impact.
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Procesos Psicoterapéuticos , Psicoterapia , Análisis Factorial , Humanos , Psicometría , Reproducibilidad de los Resultados , Autoinforme , Encuestas y CuestionariosRESUMEN
BACKGROUND: Congenital tufting enteropathy (CTE) is a rare cause of diarrhea in children. However, it can result in early-onset of chronic diarrhea and failure to thrive. Children with this disease have to depend on total parenteral nutrition (TPN), and eventually small intestine transplantation. The epithelial cell adhesion molecule (EPCAM) gene was identified to be associated with CTE. Here, we present a case of an infant with CTE due to a mutation not reported in the literature before. CASE SUMMARY: A 1-year and 7-mo infant boy exhibited intractable watery diarrhea and mushy stool within 1 wk after birth, for which he had required medical treatment and hospitalization several times. His sister presented similar symptoms and died at the age of two. On admission, his body weight was 5700 g (-4.8SDS) and measured 66 cm (-5.4SDS) in height. Meanwhile, he cannot speak or climb. He exhibited mild anemia, hypocalcemia, hypomagnesemia, and an infection in the upper respiratory tract. Microvilli sparse and vacuolar degeneration of epithelial cells were reported by small intestine biopsy. Whole-exome sequencing showed a novel homozygous splice mutation (c.657+1[IVS6] G>A) in the EPCAM gene. He was treated with TPN and recombinant human growth hormone. After 2 mo, his body weight was up to 8500 g and he has been waiting for small bowel transplantation. CONCLUSION: CTE is rare but fatal. Patients with CTE require rapid diagnosis and therapy to improve their survival.
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BACKGROUND: "Early-onset schizophrenia" (EOS) is defined as disease with onset before the age of 18 years. This subset of schizophrenia exhibits worse cognitive function and carries a worse prognosis than adult-onset schizophrenia (AOS). Olfactory impairment has been found in patients with schizophrenia-spectrum disorders. However, most research has focused on olfactory impairment in patients with AOS: olfactory function in EOS is not known. The aim of this study was to investigate the olfactory identification ability in EOS, and its relationship with negative symptoms. METHODS: We compared olfactory function between two independent samples: 40 patients with EOS and 40 age- and sex-matched healthy controls (HCs); as well as 40 patients with AOS and 40 age- and sex-matched HCs. The University of Pennsylvania Smell Identification Test was administered. RESULTS: The EOS group and AOS group exhibited worse olfactory identification ability than HCs; impairment correlated significantly with negative symptoms. Olfactory identification was worse in patients suffering EOS compared with those suffering AOS. CONCLUSION: Olfactory identification impairment may be a trait marker of schizophrenia.
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Introduction: Previous studies have found that schizotypy can predict suicide, and that meaningfulness has influential effects on suicidality in the general population. However, it is still not clear whether meaningfulness is associated with suicidality in individuals with schizotypy. The aim of this study was to assess the mediating effects of meaningfulness in the relationship between schizotypy and suicidality. Method: We recruited 2,615 university students (including undergraduates and postgraduates; mean age = 18.35, SD = 0.81; males, 39%) to participate in our study, and used the Meaningful Life Measure (Chinese, revised) to assess their experiences of meaningfulness, the Suicidal Behaviors Questionnaire (Chinese version) to evaluate participants' suicidal thoughts and attempts, and the Schizotypal Personality Questionnaire to examine their personal schizotypal traits. Results: Meaningfulness was found to be inversely related to the other two factors, and schizotypy was positively associated with suicidality. The correlation between schizotypy and suicidality was reduced when meaningfulness was included, which may suggest that meaningfulness can partly mediate this relationship, accounting for 55.47% of the association. Conclusions: Prior research has suggested that assessing meaningfulness could provide more detailed information about suicide risk in individuals with schizotypy. Our study found that improving perceptions of meaningfulness can be an effective intervention in reducing suicide risk among people with schizotypy.