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Saltatory pattern vs Zigzag pattern on the CTG, and perinatal outcomes

European Journal of Obstetrics & Gynecology and Reproductive Biology 2019年 234卷 e55-e55页

作者： Gracia-Perez-Bonfils, Anna cuadras, daniel Whelehan, Virginia Archer, Abigail Del Río, Maria Chandraharan, Edwin Hospital General de l’Hospitalet Hospitalet Barcelona Spain Hospital Quiron Barcelona Spain Sant Joan de Deu Research Foundation Statistical Service Esplugues de Llobregat Barcelona Spain St. George's University Hospitals NHS Foundation Trust London United Kingdom

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Homologous recombination repair status in metastatic prostate cancer by next-generation sequencing and functional immunofluorescence

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CELL REPORTS 2025年第2期6卷 101937-101937页

作者： Arce-Gallego, Sara Morgado, Pablo Cresta Delgado-Serrano, Luisa Simonetti, Sara Gonzalez, Macarena Romero-Lozano, Paula Marmolejo, David Morales-Barrera, Rafael Arnau, Gisela Mir Semidey, Maria Eugenia Aguilar, daniel Cordoba-Terreros, Sarai Mast, Richard de Albert, Matias Planas, Jacques cuadras, Merce Maldonado, Xavier Suarez, Cristina Casanova-Salas, Irene Figols, Mariona Cros, Sara Mas, Alba Nonell, Lara Dienstmann, Rodrigo Nuciforo, Paolo Vivancos, Ana Llop-Guevara, Alba Carles, Joan Serra, Violeta Mateo, Joaquin Vall dHebron Inst Oncol VHIO Cellex Ctr Natzaret 115-117 Barcelona 08035 Spain Vall dHebron Inst Oncol VHIO Oncol Data Sci ODysSey Grp Barcelona Spain Vall dHebron Inst Oncol VHIO Mol Oncol Barcelona Spain Vall DHebron Univ Hosp Vall DHebron Inst Oncol VHIO Barcelona Spain Vall dHebron Inst Oncol VHIO Barcelona Spain Vall dHebron Inst Oncol VHIO Canc Genom Grp Barcelona Spain Vall dHebron Univ Hosp Dept Pathol Barcelona Spain Vall dHebron Univ Hosp Dept Radiol Barcelona Spain Vall dHebron Univ Hosp Dept Urol Barcelona Spain Vall dHebron Univ Hosp Dept Radiat Oncol Barcelona Spain Althaia Xarxa Assistencial Univ Manresa Dept Med Oncol Manresa Spain Granollers Hosp Dept Med Oncol Granollers Spain Vall dHebron Inst Oncol VHIO Bioinformat Unit Barcelona Spain Univ Vic Cent Univ Catalonia Vic Spain Vall dHebron Inst Oncol VHIO Expt Therapeut Grp Barcelona Spain

Metastatic prostate cancer (mPC) is enriched for homologous recombination repair (HRR) gene alterations, which have prognostic and predictive value. Routine clinical implementation of next-generation sequencing (NGS) is still limited. We investigated the association between genomic and functional loss of HRR, using NGS and RAD51 immunofluorescence (RAD51-IF) in 219 primary or metastatic biopsies from 187 patients with stage IV prostate cancer. NGS showed frequent genomic alterations in TP53 (40%), AR (15%), PTEN (14%), FOXA1 (12%), MYC (10%), BRCA2 (9%), ATM (8%), and BRCA1 (2%). We pursued RAD51-IF in 206 samples;of those, 139/206 (67%) were evaluable. 21% of samples had RAD51-low score compatible with HRR deficiency (HRD). RAD51-IF showed high sensitivity (71%) and specificity (86%) for BRCA1/2 alterations. Patients with RAD51-low scores experienced longer progression-free survival (PFS) on poly(ADPribose) polymerase inhibitors (PARPi) or platinum chemotherapy. RAD51-IF is feasible in routine clinical samples from patients with mPC and is associated with clinically relevant HRR gene alterations.

关键词： prostate cancer genomics BRCA2 HRR PARPi precision medicine immunofluorescence

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Effectiveness of calretinin and role of age in the diagnosis of Hirschsprung disease

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PEDIATRIC SURGERY INTERNATIONAL 2016年第8期32卷 723-727页

作者： de Haro Jorge, Irene Palazon Bellver, Pedro Julia Masip, Victoria Saura Garcia, Laura Ribalta Farres, Teresa cuadras Palleja, daniel Tarrado Castellarnau, Xavier Univ Barcelona Hosp St Joan de Deu Dept Pediat Surg Passeig St Joan de Deu 2 Barcelona 08950 Spain Univ Barcelona Hosp St Joan de Deu Dept Pathol Passeig St Joan de Deu 2 Barcelona 08950 Spain Univ Barcelona Parc Sanitari St Joan de Deu Barcelona 08830 Spain

Gold standard in Hirschsprung disease (HD) diagnosis is rectal suction biopsy (RSB) with hematoxylin and eosin and acetylcholinesterase (ACE) stainings. Sensitivity is 83-93 % and specificity is between 95 and 99 %. The rate of non-conclusive results (NC) due to inadequate samples or variability in the interpretation is about 11-37.8 %. Interpretation is still difficult in neonates. Calretinin (C) is a calcium-binding protein, expressed in the nervous system. It has been introduced as a marker to improve the diagnosis accuracy in HD. We compare sensitivity, specificity between ACE and ACE + C and investigate whether the introduction of C could reduce the rate of inconclusive results. We also tried to define the most adequate age to obtain accurate results from RSB. Data from patients undergoing rectal suction biopsies from 2005 to 2014 was analyzed. Until 2010 we used ACE;since 2011 we used ACE + C. The ROC curve analysis of the NC results regarding the age, showed an optimal cut-off point at 1.5 months (m). It divides the sample into two groups which we compared. We analyzed 91 patients. Results of the RSB: 40 HD (44 %), 34 no Hirschsprung (37.4 %) and 17 NC (18.7 %). Sensitivity = 97.5 %, specificity = 97.1 %, not including the NC (1 false positive, 1 false negative). Results depending on the staining: [GRAPHICS] Calretinin decreases the rate of inconclusive results, but not significantly. The percentage of inconclusive results decreases in patients olders than 1.5 m. Further studies are necessary to determine if this technique is useful to improve RSB results in infants younger than 1.5 months.

关键词： Rectal suction biopsy Calretinin Hirschsprung disease

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Primary Cancer Sites and Clinical Features of Choroidal Metastasis in Mexican Patients

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CLINICAL OPHTHALMOLOGY 2021年 15卷 201-209页

作者： Salcedo-Villanueva, Guillermo Alejandro Medina-Andrade, Abraham Moreno-Paramo, daniel Golzarri, Maria Fernanda Moreno-Paramo, Edel Yael Ortiz-Ramirez, Grecia Martinez-Aguilar, Ursula De Dios-cuadras, Ulises Jimenez-Rodriguez, Martin Espinosa-Soto, Itzel Mira-Lorenzo, Ximena Guzman-Cerda, Juvenal Orozco-Moguel, Andres Becerra-Revollo, Catalina Porfirio Orozco-Gomez, Luis Fulda, Emiliano Hosp Dr Luis Sanchez Bulnes Retina Dept Assoc Evitar Ceguera Mexico Mexico City DF Mexico Hosp Gen Mexico Dr Eduardo Liceaga Ophthalmol Dept Mexico City DF Mexico Inst Oftalmol Fdn Conde Valenciana Retina Dept Mexico City DF Mexico Fdn Hosp Nuestra Senora Luz Retina Dept Mexico City DF Mexico Inst Mexicano Oftalmol Retina Dept Santiago De Queretaro Mexico Univ Nacl Autonoma Mexico Fac Med Mexico City DF Mexico Ctr Med Nacl 20 Noviembre Retina Dept Mexico City DF Mexico

Purpose: To describe the primary cancer sites and clinical features of choroidal metastasis in Mexican patients. Methods: This was a retrospective, observational, and multi-center study. Data were recollected from 6 ophthalmological hospitals in Mexico from patients with choroidal metastasis diagnosed from 2000 to 2018. Results: Seventy-eight patients were studied: 43 were female and 35 were male. Mean age at presentation was 57.6 years. Overall, primary cancer sites were: 1) breast: 27 cases (34.6%);2) lung: 19 cases (24.3%);3) unknown: 8 cases (10.2%);4) gastrointestinal: 7 cases (8.9%);5) renal: 5 cases (6.4%);6) testicular: 3 cases (3.8%);7) ovary: 3 Cases (3.8%);8) prostate: 2 cases (2.5%);9) thyroid: 2 cases (2.5%);10) carcinoid: 1 case (1.2%);and 11) multiple myeloma: 1 case (1.2%). Divided by gender, for women, the main three sites were: breast, unknown, and ovary. For men, the main three sites were: lung, gastrointestinal, and testicular. Oldest cases were breast cancer (87 and 85 years);youngest cases were testicular (23 and 25 years). Solitary lesions were observed in 56 cases (71.7%);multiple lesions were observed in 22 cases (28.2%). Forty-two cases had a white or yellowish color, while 6 cases presented an orange color. Conclusion: Primary cancer sites and clinical features of choroidal metastasis in Mexican patients show important differences from other populations previously studied, mainly the presence of a higher proportion of gastrointestinal and renal cancer, as well as higher incidence of ovarian and testicular cancer. These types of cancer, although not as common as breast or lung, need to be taken into account when studying Mexican patients living abroad.

关键词： choroidal neoplasms eye neoplasms neoplasm metastasis ovarian neoplasms testicular neoplasms

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Raloxifene as an Adjunctive Treatment for Postmenopausal Women With Schizophrenia: A 24-Week Double-Blind, Randomized, Parallel, Placebo-Controlled Trial

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SCHIZOPHRENIA BULLETIN 2016年第2期42卷 309-317页

作者： Usall, Judith Huerta-Ramos, Elena Labad, Javier Cobo, Jesus Nunez, Christian Creus, Marta Garcia Pares, Gemma cuadras, daniel Franco, Jose Miquel, Eva Cesar Reyes, Julio Roca, Mercedes Parc Sanitari St Joan de Deu Res & Dev Unit St Boi De Llobregat Spain Inst Salud Carlos III Ctr Invest Red Salud Mental CIBERSAM Madrid Spain Catalan Grp Womens Mental Hlth Res GTRDSM Barcelona Spain Corp Sanitaria Sabadell Spain Univ Parc Tauli Dept Psychiat Sabadell Spain Univ Rovira & Virgili Dept Psychiat IISPV Hosp Univ Inst Pere Mata C St Llorenc 21 E-43201 Reus Spain CAP EAE SALUT MENTAL Samoa Andorra

The potential therapeutic utility of estrogens in schizophrenia is increasingly being recognized. Raloxifene, a selective estrogen receptor modulator, appears to act similarly to estrogens on dopamine and serotonin brain systems. One previous trial by our team found that raloxifene was useful to improve negative, positive, and general psychopathological symptoms, without having the negative side effects of estrogens. In this study, we assess the utility of raloxifene in treating negative and other psychotic symptoms in postmenopausal women with schizophrenia exhibiting prominent negative symptoms. This was a 24-week, randomized, parallel, double-blind, placebo-controlled study. Patients were recruited from the inpatient and outpatient departments of Parc Sanitari Sant Joan de Deu, Hospital Universitari Institut Pere Mata, and Corporacio Sanitaria Parc Tauli. Seventy postmenopausal women with schizophrenia (DSM-IV) were randomized to either adjunctive raloxifene (38 women) or adjunctive placebo (32 women). Psychopathological symptoms were assessed at baseline and at weeks 4, 12, and 24 with the Positive and Negative Syndrome Scale (PANSS) and the Scale for the Assessment of Negative Symptoms (SANS). The addition of raloxifene (60 mg/d) to regular antipsychotic treatment significantly reduced negative (P = .027), general (P = .003), and total symptomatology (P = .005) measured with the PANSS during the 24-week trial, as compared to women receiving placebo. Also Alogia SANSS subscale improved more in the raloxifene (P = .048) than the placebo group. In conclusion, raloxifene improved negative and general psychopathological symptoms, compared with antipsychotic medication alone, in postmenopausal women with schizophrenia. These data replicate our previous results with a larger sample and a longer follow-up.

关键词： SERM negative symptoms estrogen

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

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JOURNAL OF INHERITED METABOLIC DISEASE 2017年第5期40卷 709-713页

作者： de Diego, Victor Martinez-Monseny, Antonio F. Muchart, Jordi cuadras, daniel Montero, Raquel Artuch, Rafael Perez-Cerda, Celia Perez, Belen Perez-Duenas, Belen Poretti, Andrea Serrano, Mercedes Hosp St Joan de Deu Neuropediat Dept Barcelona Spain Hosp St Joan de Deu Radiol Dept Barcelona Spain Hosp St Joan de Deu Clin Biochem Dept Barcelona Spain Inst Salud Carlos III Ctr Biomed Res Rare Dis CIBER ER U703 Barcelona Spain Hosp St Joan de Deu Genet Med & Rare Dis Pediat Inst Barcelona Spain Fundacio St Joan Deu Stat Dept Barcelona Spain Univ Autonoma Madrid Inst Salud Carlos 3 Ctr Biomed Res Rare Dis CIBER ER Madrid U746 Ctr Diagnost Enfermedades Mol CEDEMIdiPAZ Madrid Spain Johns Hopkins Univ Div Pediat Radiol Sect Pediat Neuroradiol Russell H Morgan Dept Radiol & Radiol SciSch Med Baltimore MD USA Hosp St Joan de Deu Neurol Dept Passeig St Joan de Deu 2 Barcelona 08950 Spain Hosp St Joan de Deu Genet Med Passeig St Joan de Deu 2 Barcelona 08950 Spain Inst Salud Carlos III Ctr Biomed Res Rare Dis CIBER ER U703 Passeig St Joan de Deu 2 Barcelona 08950 Spain

Objective We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. Methods Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex-and age matched controls, and to determine the rate of progression of cerebellar atrophy at different ages. Results Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (p < 0.001 and p < 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (p = 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (r = -0.578, p = 0.012 and r = -0.323, p = 0.48 respectively), particularly in patients under 11 years (p = 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (r = 0.669, p = 0.001). Conclusions Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG.

关键词： Cerebellar Atrophy Cerebellar Volume Focal Epilepsy Spinocerebellar Ataxia Volumetric Analysis

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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

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ORPHANET JOURNAL OF RARE DISEASES 2017年第1期12卷 155-155页

作者： Lourdes Serrano, Natalia De Diego, Victor cuadras, daniel Martinez Monseny, Antonio F. Velazquez-Fragua, Ramon Lopez, Laura Felipe, Ana Gutierrez-Solana, Luis G. Macaya, Alfons Perez-Duenas, Belen Serrano, Mercedes Hosp St Joan de Deu Neuropediat Dept Barcelona Spain Hosp St Joan de Deu Radiol Dept Barcelona Spain Hosp St Joan de Deu Clin Biochem Dept Barcelona Spain Inst Salud Carlos 3 U 703 Ctr Biomed Res Rare Dis CIBER ER Barcelona Spain Hosp Garrahan Pediat Dept Buenos Aires DF Argentina Fundacio St Joan de Deu Stat Dept Barcelona Spain Hosp St Joan de Deu Pediat Inst Genet Med & Rare Dis Barcelona Spain Hosp Univ La Paz Pediat Neurol Dept Madrid Spain Univ Nino Jesus Madrid Hosp Infantil Dept Pediat Unit Child Neurol Madrid Spain Univ Autonoma Barcelona Hosp Univ Vall Hebron Seccio Neurol Pediatr Inst Recerca Vall HebronGrp Recerca Neurol Pedia Barcelona Spain Hosp St Joan de Deu Neurol Dept Passeig St Joan de Deu 2 Barcelona 08950 Spain

Background: We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2-CDG patients aged from 5 to 18 years through ICARS at two different time points set apart by at least 20 months. We reviewed available MRIs and performed volumetric analysis when it was possible. Results: From the eligible 24, four patients were excluded due to severe mental disability (n = 2) and supratentorial lesions (n = 2). Two different ICARS evaluations separated by more than 20 months were available for 14 patients showing an improvement in the cerebellar syndrome: ICARS1: 35.71 versus ICARS2: 30.07 (p < 0.001). When we considered time, we saw an improvement of 2.64 points in the ICARS per year with an SD of 1.97 points (p < 0.001). The ICARS subscales results improved with time, reaching statistical significance in "Posture and gait" (p < 0.001), "Kinetic functions" (p = 0.04) and "Speech abnormalities" (p = 0.045). We found a negative correlation between the ICARS results and total cerebellar volume (r = -0.9, p = 0.037) in a group of five patients with available volumetric study, meaning that the higher the ICARS score, the more severe was the cerebellar atrophy. Conclusions: Our study shows a stabilization or mild improvement in the cerebellar functions of paediatric PMM2-CDG patients despite cerebellar volume loss. ICARS is a valid scale to quantify the evolution of cerebellar syndrome in PMM2-CDG patients. The availability of ICARS and other reliable and sensitive follow-up tools may prove essential for the evaluation of potential therapies.

关键词： Cerebellum Congenital disorders of glycosylation Developmental disorders Gait disorders/ataxia ICARS MRI

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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

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Journal of inherited metabolic disease 2017年第5期40卷 753-754页

作者： Víctor de Diego Antonio F Martínez-Monseny Jordi Muchart daniel cuadras Raquel Montero Rafael Artuch Celia Pérez-Cerdá Belén Pérez Belén Pérez-Dueñas Andrea Poretti Mercedes Serrano Neuropediatric Radiology and Clinical Biochemistry Departments Hospital Sant Joan de Déu Barcelona Spain. U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III Barcelona Spain. Genetic Medicine and Rare Diseases' Pediatric Institute Hospital Sant Joan de Déu Barcelona Spain. Statistics Department Fundació Sant Joan de Déu Barcelona Spain. Centro de Diagnóstico de Enfermedades Moleculares (CEDEM) Universidad Autónoma de Madrid (UAM) U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid Instituto de Salud Carlos III IdiPAZ Madrid Spain. Section of Pediatric Neuroradiology Division of Pediatric Radiology Russell H Morgan Department of Radiology and Radiological Science The Johns Hopkins University School of Medicine Baltimore MA USA. Neuropediatric Radiology and Clinical Biochemistry Departments Hospital Sant Joan de Déu Barcelona Spain. mserrano@***. U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III Barcelona Spain. mserrano@***. Genetic Medicine and Rare Diseases' Pediatric Institute Hospital Sant Joan de Déu Barcelona Spain. mserrano@***. Neurology Department & Genetic Medicine Hospital Sant Joan de Déu and U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III Passeig Sant Joan de Déu 2 08950 Esplugues Barcelona Spain. mserrano@***.

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A Unified Approach for the Multivariate Analysis of Contingency Tables

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Open Journal of Statistics 2015年第3期5卷 223-232页

作者： Carles M. cuadras daniel cuadras Department of Statistics University of Barcelona Barcelona Spain Statistical Service Sant Joan de Deu Research Foundation Barcelona Spain

We present a unified approach to describing and linking several methods for representing categorical data in a contingency table. These methods include: correspondence analysis, Hellinger distance analysis, the log-ratio alternative, which is appropriate for compositional data, and the non-symmetrical correspondence analysis. We also present two solutions working with cummulative frequencies.

关键词： Correspondence Analysis Hellinger Distance Log-Ratio Analysis Generalized Pearson Contingency Coefficient Correspondence Analysis with Cumulative Frequencies

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Serum albumin and health in older people: Review and meta analysis

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MATURITAS 2015年第1期81卷 17-27页

作者： Cabrerizo, Sonia cuadras, daniel Gomnez-Busto, Fernando Artaza-Artabe, Inaki Martin Ciancas, Fernando Malafarina, Vincenzo Grp Viamed Clin Manzanos Nutr Serv Lardero 26140 Spain Fdn St Joan de Deu Serv Assessorament Metodol & Estadist RecercaUnit St Boi De Llobregat Barcelona Spain Residencia San Prudencia Dept Geriatr Vitoria 01002 Spain Grp Igurco Orue Ctr Socio Sanitario Dept Geriatr Amorebieta 48340 Spain Grp Viamed Clin Manzanos Dept Geriatr Lardero 26140 Spain

Albumin is the most abundant plasmatic protein. It is only produced by the liver and the full extent of its metabolic functions is not known in detail. One of the main roles assigned to albumin is as an indicator of malnutrition. There are many factors, in addition to nutrition, that influence levels of albumin in plasma. The main aim of this review is to assess the clinical significance of albumin in elderly people in the community, in hospital and in care homes. Following the review, it can be stated that age is not a cause of hypoalbuminemia. Albumin is a good marker of nutritional status in clinically stable people. Significant loss of muscle mass has been observed in elderly people with low albumin levels. Hypoalbuminemia is a mortality prognostic factor in elderly people, whether they live in the community or they are in hospital or institutionalized. Low levels of albumin are associated to worse recovery following acute pathologies. Inflammatory state and, particularly, high concentrations of IL-6 and TNF-alpha, are two of the main influencing factors of hypoalbuminemia. In elderly patients with a hip fracture, albumin levels below 38 g/L are associated to a higher risk of post-surgery complications, especially infections. Further research is needed on the impact of nutritional intervention upon albumin levels and on the outcomes in elderly people in the community, in hospital and in care. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

关键词： Hypoalbuminemia Undemutrition Ageing Protein energy malnutrition Nutritional screening Body composition

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