Determinants of clinical outcome and length of stay in acute care forensic psychiatry units.

Criminological and sociodemographic variables, such as previous criminal convictions, increased risk of violence, early onset of mental disorder, antisocial personality, psychosis and low social support, have all been related to longer length of stay (LoS) and poorer outcome in long stay forensic services. The factors impacting on LoS and clinical response in acute care specialized units are poorly documented. To address this issue, we examined the psychiatric records of all cases admitted between January 1st and December 31th 2020 in the sole acute ward for detained persons located in the central prison of the Geneva County, Switzerland. Information on judicial status included pre-trial versus sentence execution, previous incarcerations, and age of the first incarceration. Sociodemographic data included age, gender, marital status, and education attainment. Previous inpatient stays prior to incarceration were recorded. All of the ICD-10 clinical diagnoses were made by two independent, board-certified psychiatrists blind to the scope of the study. The standardized assessment was based on the HoNOS (Health of Nation Outcome Scales) at admission and discharge, HONOS-secure at admission, HCR-20 (Historical Clinical Risk 20) version 2, PCL-R (Psychopathy Checklist Revised), and SAPROF (Structured Assessment of Protective Factors). Stepwise forward multiple linear regression models predicting the LoS and delta HONOS respectively were built with the above mentioned parameters. The selected variables were then used in univariate and multivariable regression models. Higher HCR-scores (mainly on clinical items), and longer LoS were related to higher delta HONOS scores. In contrast, cases in pre-trial detention showed a worst clinical outcome. In multivariable models, all three variables remained independent predictors of the clinical outcome and explained 30.7% of its variance. Only education and diagnosis of borderline personality were related to the LoS and explained 12.6% of its variance in multivariable models. Our results suggest that the use of acute wards specialized in forensic psychiatry are mainly useful for patients with prior inpatient care experience, and higher violence risk during sentence execution. In contrast, they seem to be less performant for persons in pre-trial detention that could benefit from less restrictive clinical settings.

Patients Air Medical Transport During the COVID-19 Pandemic: A Retrospective Cohort Study.

INTRODUCTION: Air medical transport during the coronavirus disease 2019 pandemic was essential for transferring critically ill patients. This study aimed to comparatively analyze air-transported patients with and without coronavirus disease 2019 according to their clinical condition and complications that occurred during the flight. METHODS: This was a retrospective cohort study that analyzed the digital records of adult patients transported by fixed-wing aircraft from the interior of the state of Amazonas to the state capital Manaus, Brazil, from June 2019 to May 2021. Pearson's chi-squared, Fisher exact, and Wilcoxon-Mann-Whitney tests were applied (significance level of P < .05). RESULTS: The sample consisted of 741 patients (60.59% men, median age 54 years). The incidence of complications during the flight was 7.28%, with emphasis on dyspnea, psychomotor agitation, and pain. There was a significant difference between patients with (n = 466) and without coronavirus disease 2019 (n = 275) regarding the variables age (P < .001), comorbidities (P < .001), body mass index (P < .001), impact (P < .001) and priority (P = .002) of the transfer, physiological severity (P < .001), use of vasoactive drugs when boarding the aircraft (P = .033), and occurrence of respiratory complications during air medical transport (P = .003). DISCUSSION: Patients with coronavirus disease 2019 were older, had more comorbidities and were severely ill, and had higher body mass index, frequency of vasoactive drug use, and respiratory complications. Although there are minimal differences among these patients, the role that interhospital transfer plays in reducing burden on local, less well-equipped hospitals is a primary role of medical transport, particularly during pandemics.

Evolution of children diagnosed with attention deficit/hyperactivity disorder. Follow-up study in a Spanish simple.

BACKGROUND: Attention deficit/hyperactivity disorder (ADHD) is a chronic condition with long-term associated risks. OBJECTIVE: To analyze the clinical status, occupation, and daily life difficulties of two cohorts of children diagnosed with ADHD (2004 and 2009) after five and 10 years. MATERIAL AND METHOD: Descriptive, longitudinal study using the WOMI database corresponding to Oviedo, Asturias, Spain. Children with ADHD detected by their primary care pediatrician were included. A voluntary follow-up telephone interview was requested. Outcome variables were current clinical and occupational status, ADHD symptoms according to SNAP-IV, and Strengths and Difficulties Questionnaire (SDQ). RESULTS: The interviewed sample consisted of 95 subjects, out of whom 71 answered the SNAP-IV and SDQ questionnaires; 60.70% of the sample did not receive treatment at the time of follow-up, 4.7% had no occupation, 25.40% still had ADHD global symptoms above the clinical cutoff point, and 66.2% had difficulties with moderate interference. CONCLUSIONS: ADHD symptoms decline as people grow up. Mental health comorbidities and academic dropout were not confirmed in the sample.

ANTECEDENTES: El trastorno de déficit de atención e hiperactividad (TDAH) constituye una condición crónica con riesgos asociados a largo plazo. OBJETIVO: Analizar el estado clínico, la ocupación y las dificultades de la vida diaria de dos cohortes de niños con diagnóstico de TDAH (2004 y 2009) después cinco y 10 años. MATERIAL Y MÉTODO: Estudio descriptivo y longitudinal de la base de datos WOMI correspondiente a Oviedo, Asturias, España. Se incluyeron niños detectados con TDAH por su pediatra de atención primaria. Se solicitó una entrevista telefónica voluntaria de seguimiento. Las variables de resultado fueron estado clínico y ocupacional al momento de la entrevista, síntomas de TDAH según SNAP-IV y Cuestionario de Fortalezas y Dificultades (SDQ). RESULTADOS: La muestra entrevistada estuvo formada por 95 sujetos, de los cuales 71 respondieron a los cuestionarios SNAP-IV y SDQ; 60.7 % de la muestra no recibía tratamiento en el momento del seguimiento, 4.7 % no tenía ninguna ocupación, 25.4 % mantenía síntomas globales de TDAH en nivel superior al punto de corte clínico y 66.2 % presentaba dificultades con interferencia moderada. CONCLUSIONES: Los síntomas del TDAH disminuyen conforme las personas crecen. Las comorbilidades de salud mental y el abandono académico no se confirmaron en la muestra.

The clinical, economic, and humanistic burden of Dravet syndrome - A systematic literature review.

Dravet syndrome (DS) is a developmental and epileptic encephalopathy with evolving disease course as individuals age. In recent years, the treatment landscape of DS has changed considerably, and a comprehensive systematic review of the contemporary literature is lacking. Here we synthesized published evidence on the occurrence of clinical impacts by age, the economic and humanistic (health-related quality-of-life [HRQoL]) burden, and health state utility. We provide an evidence-based, contemporary visualization of the clinical manifestations, highlighting that DS is not limited to seizures; non-seizure manifestations appear early in life and increase over time, contributing significantly to the economic and humanistic burden of disease. The primary drivers of HRQoL in DS include seizure severity, cognition, and motor and behavioral problems; in turn, these directly affect caregivers through the extent of assistance required and consequent impact on activities of daily living. Unsurprisingly, costs are driven by seizure-related events, hospitalizations, and in-home medical care visits. This systematic review highlights a paucity of longitudinal data; most studies meeting inclusion criteria were cross-sectional or had short follow-up. Nonetheless, available data illustrate the substantial impact on individuals, their families, and healthcare systems and establish the need for novel therapies to address the complex spectrum of DS manifestations.

Clinical-therapeutic follow-up of patients with American cutaneous leishmaniasis caused by different Leishmania spp. in Brazil.

American cutaneous leishmaniasis (ACL) may present different clinical manifestations, immune and therapeutic responses, depending on the Leishmania species, as well as inoculum size and factors inherent to the affected individual. Thus, the aim of this study was to carry out clinical-therapeutic follow-up of Brazilian patients with ACL caused by different Leishmania species. Between 2015 and 2018, patients with ACL from Amazonas and Pernambuco states (Brazil) were submitted to blood collection before and after treatment. The qPCR technique was used to quantify the parasite load. To identify the Leishmania species, one of the following techniques was employed: a conventional PCR performed from biopsy or blood DNA, followed by sequencing; or Multilocus Enzyme Electrophoresis from Leishmania isolated from biopsy/aspirated lesion. A total of 10.8% (23/213) of the patients included in positive cases were followed-up. All 23 patients were clinically and epidemiologically compatible with ACL and were also positive in parasitological tests (86.96%), molecular tests (73.91%) or both (60.87%). Seventeen samples collected before treatment and 11 collected after treatment were positive in the qPCR assay, with a mean parasite load (MPL) of 38.33 fg/µL and 11.81 fg/µL, respectively. Eight samples were positive in both collections. Thirteen patients (56.52%) were clinically cured (wound healing). Ten patients (43.47%) were not clinically cured at the time of return with the attending physician. Identification of Leishmania species was carried out in samples from nine patients, and six were identified as L. (Viannia) braziliensis, 2 as L (Viannia) guyanensis and 1 as L (Leishmania) amazonensis. One patient infected with L. guyanensis and other with L. braziliensis were not clinically cured and increased the mean parasite load after treatment. The data obtained from the followed-up patients and the relationship between clinical evolution and the infecting species demonstrate the need to understand its etiology to define the effective therapeutic protocol.

Development and Validation of a New Scoring Tool to Evaluate the Clinical Evolution of Adult Patients with Nonsegmental Vitiligo.

BACKGROUND: Vitiligo has an unpredictable course and a variable response to treatment. Furthermore, the improvement of some vitiligo lesions cannot be considered a guarantee of a similar response to the other lesions. Instruments for patient-reported outcome measures (PROM) can be an alternative to measure complex constructions such as clinical evolution. OBJECTIVE: The aim of this study was to validate a PROM that allows to measure the clinical evolution of patients with nonsegmental vitiligo in a simple but standardized way that serves to gather information for a better understanding of the disease. METHODS: The instrument was created through expert consensus and patient participation. For the validation study, a prospective cohort design was performed. The body surface area affected was measured with the Vitiligo Extension Score (VES), the extension, the stage, and the spread by the evaluation of the Vitiligo European Task Force assessment (VETFa). Reliability was determined with test-retest, construct validity through hypothesis testing, discriminative capacity with extreme groups, and response capacity by comparing initial and final measurements. RESULTS: Eighteen semi-structured interviews and 7 cognitive interviews were conducted, and 4 dermatologists were consulted. The instrument Clinical Evolution-Vitiligo (CV-6) was answered by 119 patients with a minimum of primary schooling. A wide range was observed in the affected body surface; incident and prevalent cases were included. The average time to answer the CV-6 was 3.08 ± 0.58 min. In the test-retest (n = 53), an intraclass correlation coefficient was obtained: 0.896 (95% CI 0.82-0.94; p < 0.001). In extreme groups, the mean score was 2 (2-3) and 5 (4-6); p < 0.001. The initial CV-6 score was different from the final one and the change was verified with VES and VETFa (p < 0.05, n = 92). CONCLUSIONS: The CV-6 instrument allows patient collaboration, it is simple and brief, and it makes it easier for the doctor to focus attention on injuries that present changes at the time of medical consultation.

Basal or stimulated thyroglobulin in evaluating response to treatment in papillary thyroid carcinoma? A retrospective cohort study.

OBJECTIVE: It is not clear whether response to initial treatment in papillary thyroid carcinoma (PTC) patients is best evaluated by measuring thyroglobulin (Tg) in the presence of levothyroxine (BTg) or when stimulated by elevated TSH (STg). The aim of this study was to evaluate whether response to therapy 1 year after initial treatment changes with the use of STg in relation to BTg in PTC patients treated with total thyroidectomy (TT) and radioiodine (131I), and, if observed, to assess which response is better associated with clinical course. SUBJECTS AND METHODS: This is a retrospective study of 148 PTC patients submitted to TT and 131I. We analyzed the response to therapy (excellent, biochemical incomplete, or indeterminate) at 1 year after initial treatment, using BTg or STg, and compared which method was better associated with "excellent response at final evaluation." RESULTS: Twenty-eight patients (20.4%) presented change in response to therapy, with 17 of these (60.7%) presenting a worse response. Response using STg was 1.6 times better associated with proposed outcome [odds ratio (OR) = 4.61; confidence interval 95% (IC95%): 2.13-9.98] than with BTg (OR = 2.84; IC95%: 1.33-6.06). CONCLUSION: Response to therapy at 1 year using STg was altered in approximately 20% of cases and therefore proved to be a better predictor of excellent response in the last evaluation.

Clinical-laboratory characteristics predictive of COVID-19 severity: a prospective hospital cohort, in Pernambuco, Northeast Brazil.

OBJECTIVE: To describe the clinical-laboratory profile and analyze the factors associated with the severity of COVID-19. METHODS: A prospective cohort study involving patients with COVID-19 admitted to a tertiary hospital in Recife, Brazil. All cases were confirmed by RT-PCR and classified according to severity criteria. A descriptive statistical analysis of the population's characteristics was conducted. Risk factors associated with the outcome of the case according to severity were analyzed by calculating the odds ratio (OR) using the general equation estimation (GEE) model. RESULTS: Among the 75 cases included, 64% were female, and 62.7% were aged 65 years or older. The median length of stay was 9 days (6 - 14). Hypertension (65.3%) and Diabetes Mellitus (36%) were the most frequent comorbidities. Severe forms of COVID-19 constituted 41.3% of the sample. The factors associated with severity were a history of asthma (OR=4.58, 95%CI:1.13 - 18.7), report of anorexia (OR=1, 12, 95%CI:1.01-1.24), and laboratory changes that included elevated platelets (OR=1.00, 95% CI:1.00-1.01), elevated D'Dimer (OR=1, 26, 95% CI:1.04-1.52), elevated aspartate aminotransferase (OR=1.00, 95% CI:1.00-1.01), and gamma-glutamyl transferase (OR=1.22, IC95 %:0.98-1.51), hypernatremia (OR=1.31, 95%CI:1.12-1.52), and hyperkalemia (OR=1.21, 95% CI:1.04-1.41). CONCLUSION: Multisystemic involvement with a tendency for thrombophilia, electrolyte disturbances, and hepatic aggression, reflected by laboratory changes, were factors associated with the severity of COVID-19.

[Analysis of cardiac surgeries and operative mortality at the National Cardiovascular Institute during 2022]. / Análisis de las cirugías cardíacas y mortalidad operatoria en el Instituto Nacional Cardiovascular durante el 2022.

Objective: To describe cardiac surgeries, their approaches, and determine operative mortality according to the type of surgery and the main complications recorded within 30 days postoperatively, performed at the National Cardiovascular Institute of Peru. Materials and methods: A descriptive study was conducted on all patients over 18 years of age who underwent cardiovascular surgery at the National Cardiovascular Institute "Carlos Alberto Peschiera Carrillo". Results: During the year 2022, a total of 503 cardiac surgeries were performed. Of the patients undergoing surgery, 63.6% (320) were males. Isolated valvular surgery, primarily aortic or mitral valve replacement, was the most frequent surgical procedure, with 136 surgeries (27.0%). This was followed by myocardial revascularization surgery with 110 procedures (21.9%). Throughout the year, there were 23 deaths, resulting in an overall mortality rate of 4.5%. The mortality rate for elective surgeries was 2.8%, while for emergency surgeries, it was 14.3%. The most common complication was paroxysmal atrial fibrillation (14.0%), followed by surgical site infection with 52 cases (10.3%). Conclusions: Valvular surgery, whether isolated or combined with other procedures, was the most frequently performed. The obtained mortality rate is considered acceptable for a reference center.

Sources of social support and clinical and functional evolution of people with schizophrenia.

PURPOSE: The impact of social support on comprehensive measures of results (clinical and functional) of the course of schizophrenia was studied, understood and evaluated as a multidimensional construct differentiating sources of support (family vs. nonfamily). METHODS: One hundred fifty-two patients diagnosed with schizophrenia were assessed with the Mannheim Interview on Social Support (MISS) and the Social Functioning Scale (SFS). The hypotheses were explored in a prospective longitudinal design, using a causal correlational analysis for their evaluation by applying structural equation models. RESULTS: The only explanatory factor of social functioning was Nonfamily social support, while the only explanatory factor of clinical result measurements was Family social support, observing a clearly differentiated impact of the different sources of support on the schizophrenia result measurements. It was also found that while Family social support explained 6.8% of the variance in the clinical result measurements, Nonfamily social support explained 13.7% of the variance in social functioning. CONCLUSION: The results confirmed the differential importance of social support variables (family vs. nonfamily) in the clinical and functional result measurements of people with schizophrenia.

Trajectories of children and adolescents attending a psychiatric emergency unit during the COVID-19 confinements: 2020-2022 longitudinal study.

INTRODUCTION: The prevalence of psychiatric disorders has not shifted widely through the COVID pandemic, except for some specific groups such as young people or women. Our objective is to examine prospectively the evolution of children and adolescents who consulted in a psychiatric emergency service during the COVID-19 confinements. METHOD: We collected prospective clinical information about 296 young people under 18 who visited a tertiary hospital for psychiatric reasons during the confinement periods in Spain. Clinical diagnoses, suicide attempts, hospital admissions, and pharmacological prescriptions were extracted from electronic health records through 2020, 2021, and 2022. Features of those who maintained psychiatric care and those who did not were compared. RESULTS: Three out of four children and adolescents who visited the psychiatric emergency department during the confinements continued psychiatric care at the end of 2022. Those who did not showed better premorbid adjustment at baseline. During follow-up, diagnoses of neurodevelopmental disorders and eating disorders, as well as the dosage of psychotropic drug prescriptions, increased. The diagnoses of major depressive disorder and eating disorder at baseline were associated with attempting suicide during follow-up. Patients with internalizing symptoms were admitted earlier than those with externalizing symptoms but no differences were found in terms of suicide attempts. CONCLUSIONS: The continuity of psychiatric care after an initial emergency visit during the confinements implied greater clinical severity, as reflected by changes in clinical diagnoses and pharmacological regimens. Emergent symptoms of depression or eating disorders after social distancing or isolation could predict subsequent suicidal behavior in young populations.

JUXTACORTICAL OSTEOSARCOMA: CLINICAL EVOLUTION AND DEDIFFERENTIATION RELATED FACTORS.

Objective: Evaluate risk factors related to clinical evolution and dedifferentiation of parosteal (juxtacortical) osteosarcoma to high-grade osteosarcoma. Methods: Retrospective cohort study performed over a period of 25 years, using data from medical records of patients diagnosed with parosteal osteosarcoma. The data were submitted to statistical analysis by Fisher's exact test and Student's t-test. Results: Of the 326 patients treated for osteosarcoma, we identified 17 patients diagnosed with parosteal osteosarcoma. Of these, 4 (23.5%) were not actually diagnosed with parosteal osteosarcoma and 4 did not have the minimum data required for analysis, being excluded from the study. Of the 9 patients studied, we observed that 3 (33.3%) evolved with tumor dedifferentiation to high-grade osteosarcoma. Moreover, 2 (66.7%) had local recurrence and 2 (66.7%) metastases. Conclusion: Age, sex, and the tumor size were not directly related to the dedifferentiation from parosteal osteosarcoma to high-grade osteosarcoma. The most aggressive clinical evolution - presence of local recurrences and metastasis - in parosteal osteosarcoma occurred in tumors with dedifferentiation, however, we cannot associate each other as cause and effect, but as related factors. Level of Evidence IV, Case Series.

Objetivo: Avaliar fatores de risco relacionados à evolução clínica e à desdiferenciação do osteossarcoma justacortical (parosteal, paraosteal) em osteossarcoma de alto grau. Métodos: Estudo de coorte retrospectiva realizado num período de 25 anos. Foram utilizados dados de prontuários de pacientes com diagnóstico de osteossarcoma parosteal que, em seguida, foram submetidos à análise estatística pelo Teste Exato de Fisher e pelo Teste t de Student. Resultados: Foram tratados 326 pacientes com diagnóstico de osteossarcoma, dos quais 17 (5,21%) receberam diagnóstico de osteossarcoma parosteal, 4 (1,22%) foram diagnosticados com osteossarcoma convencional e 4 (1,22%) não tinham dados mínimos necessários para análise, sendo excluídos do estudo. Dos 9 (2,76%) pacientes estudados, 3 (0,92%) evoluíram com desdiferenciação do tumor para osteossarcoma de alto grau. Dois (0,84%) pacientes apresentaram recidiva local e 2 (0,84%%) apresentaram metástases. Conclusão: Os fatores idade, sexo e volume do tumor não estão diretamente relacionados com a desdiferenciação do osteossarcoma parosteal para osteossarcoma de alto grau. Apesar de a evolução clínica mais agressiva - presença de recidivas locais e metástase - no osteossarcoma parosteal ter ocorrido nos tumores com desdiferenciação, não é possível estabelecer uma relação de causa e efeito, apenas considerá-las como fatores relacionados. Nível de Evidência IV, Série de Casos.

Effect of Music Therapy as a Non-Pharmacological Measure Applied to Alzheimer's Disease Patients: A Systematic Review.

The objective of this research was to learn about the effects of music as a non-pharmacological therapeutic intervention applied to Alzheimer's disease. To this aim, we evaluated its results regarding symptomatology and caregiver burden. Methods: This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria. We searched Pubmed/Medline (NLM), Web of Science, Scopus, Cochrane and Google Scholar, including articles from 1 January 2011-20 July 2021, using the keywords "Alzheimer´s disease", "Music therapy", "Caregivers overload", "Amnesia retrograde" and "Clinical evolution". To select the articles our criteria included complete text availability, quantitative research of an experimental nature and studies which, at least, figured in SJR or in JCR. Results: We found a relationship between the application of music therapy in patients with Alzheimer's disease and an improvement regarding symptomatology, as it smoothed down the progress of the disease. Using music therapy in Alzheimer's patients also led to a decrease in caregivers' burden and an increase in their well-being. Conclusions: Our results showed the benefits of music therapy, as it improved both patients' symptomatology and caregivers' burden.

Validation of the Post-Covid-19 Functional Status Scale into Mexican-Spanish.

AIM: To translate and validate the Post-COVID-19 Functional Status Scale into Mexican-Spanish. MATERIALS AND METHODS: A cross-sectional study was performed for transcultural validation of the Post-COVID-19 Functional Status Scale in people over 18 years of age, using the international guidelines for validation published by Beaton and Guillemin. Diagnostic and clinimetric validity tests were applied to the scale. Statistical analysis was performed with the statistical program R. RESULTS: The scale was applied to 249 patients, obtaining a Cronbach's alpha of 0.84 for the structured interview, and 0.67 for the self-reported questionnaire. When comparing both tests, and considering the structured interview as the reference test, the self-reported questionnaire had a sensitivity of 86.2%, a specificity of 96.3%, and a negative predictive value of 95.8%. CONCLUSION: A practical and valid scale was obtained, in concordance with that published in the original version, which can be used in daily clinical practice and rehabilitation. The scale can be used to rapidly and adequately identify post-COVID-19 patients with alterations in functionality who could benefit from rehabilitation therapy.

Clinical Evolution and Quality of Life in Clinically Based COPD Chronic Bronchitic and Emphysematous Phenotypes: Results from the 1-Year Follow-Up of the STORICO Italian Observational Study.

Introduction: Understanding clinical evolution of chronic obstructive pulmonary disease (COPD) is crucial for improving disease management. Materials and Methods: STORICO (NCT03105999), an Italian, multicenter, non-interventional, observational study conducted in 40 pulmonology centers, aimed to describe the 1-year clinical evolution and health status of clinicallbased phenotypes. Baseline and follow-up data of COPD subjects with a chronic bronchitis (CB) or emphysema (EM) phenotype were collected. The frequency of COPD symptoms during the 24 hours (gathered via the night-time, morning and day-time symptoms of COPD questionnaire) and the anxiety and depression levels (via the HADS Scale) were recorded at each visit. Results: A total of 261 CB and 159 EM patients were analyzed. CB patients with ≥1 night-time symptom seemed to be more frequent (51.7%, 41.8% and 41.4% at baseline, 6-month and 12-month follow-up, respectively) than EM (37.7%, 32.1% and 30.2% at study visits) even if no statistical differences were observed at time points between phenotypes (chi-square test p-values presence/absence of night-time symptoms in CB vs EM at study visits >0.0007). In the first 6 months, the frequency of patients with ≥1 night-time symptom decreased of 9.9% in CB and of 5.6% in EM. A clinically relevant decline of DLCO % predicted over 1 year in EM was observed, the mean (SD) being 61.5 (20.8) % at baseline and 59.1 (17.4) % at 12-month follow-up. EM had higher levels of anxiety and depression than CB (median (25th-75th percentile) HADS total score in CB: 7.0 (4.0-13.0) and 7.0 (3.0-12.0), in EM: 9.0 (3.0-14.0) and 9.5 (3.0-14.0) both at baseline and at 6-month follow-up, respectively), considering 1.17 as minimally clinical important difference (MCID) for the total score. Conclusion: EM patients, evaluated in a real-world setting, seem to suffer from a worse clinical condition and health status compared to CB patients, appearing to have "more treatable" traits.

Clinical characteristics, disease evolution and survival in patients with chronic myeloid leukemia, BCR-ABL1 (+) and T315I mutation.

INTRODUCTION: The T315I mutation in patients with chronic myeloid leukemia (CML) has been associated with therapeutic resistance and an unfavourable prognosis. AIM: To study the frequency of T315I mutation in patients with CML, BCR-ABL (+), their clinical characteristics, disease evolution, and median survival. PATIENTS AND METHODS: We studied 75 patients with CML and BCR-ABL1 (+). T315I mutation was detected by digital droplet PCR and BCR-ABL1 was analyzed by RT-PCR. A comparative analysis was performed by sex, age, disease phase, risk group, treatment, molecular response (MR), and median survival in T315I (+) and T315I (-) patients. RESULTS: T315I mutation was detected in 11 patients (14.7%). No significant difference was found in the phase, risk group, and first-line therapy. A significantly higher proportion of T315I (+) did not achieve MR >3.5 log: 8 (72.7%) vs. 22 (34.4%) (p=0.023). The lowest mean BCR-ABL1 levels were significantly higher in the CML T315I (+) group compared to the CML T315I (-) group: 12.1±6.0 vs. 3.77±1.28 (p=0.009). The median survival of T315I (+) patients was significantly shorter: 73 months vs. 175 months (p<0.0001, CI 95%). CONCLUSIONS: Our data confirm the world experience on the frequency of T315I mutation, including the unfavourable evolution, resistance to TKI treatment and short survival. ddPCR is a highly sensitive method for early detection of genetic mutations which gives the chance for effective treatment.

Nutcracker Syndrome: A Single-Center Experience.

Nutcracker syndrome, whose prevalence and natural history are still poorly known, is a clinical syndrome caused by left renal vein compression between the superior mesenteric artery and the aorta. Long-term results and treatment outcomes are not well known. Our group aimed to characterize 7 patients diagnosed with nutcracker syndrome in childhood and to describe their clinical manifestations, diagnostic approaches, and mostly their clinical evolution, rate of complications, and treatment outcomes.

Clinical features of spinal muscular atrophy (SMA) type 2.

Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia. The consequences of motor neuron degeneration are functional and orthopaedic, respiratory, nutritional, socio-professional, and psychological. The implementation of standardized care (i.e., standard of care recommendations) has improved the quality of life and survival outcome of patients. The emergence of innovative therapies, some of which are now available, should further improve the clinical evolution of this disease. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Variant classifications, databases and genotype-phenotype correlations.

Because CFTR gene studies now represent one of the most frequent genetic analyses routinely performed worldwide, the number of rare CFTR variants identified in various clinical situations, regularly increases. To provide appropriate diagnosis and prognosis to CF patients as well as appropriate genetic counseling to families, the clinical impact and the phenotypic spectrum of variants identified by diagnostic techniques need to be characterized. Three complementary locus specific databases, called CFTR1, CFTR2 and CFTR-France were developed to address these issues. Besides, the growing knowledge of the CF pathophysiology and the technical evolution in molecular biology allowed to identify candidate modifier genes, regulatory loci, epigenetic profiles and trans-regulators that could help to refine genotype-phenotype correlations at the individual level. These different factors may contribute to the large phenotypic variability between patients with CF, even when they carry identical CFTR variants, regarding lung function, meconium ileus susceptibility or the risk for developing CFTR-related diabetes and liver disease. Finally, the availability of new therapies that target the CFTR protein for numbers of CF patients led to the identification of 'good' and 'poor' responders, thus raising questions of pharmacogenetics factors that may influence treatment efficiency as a novel feature of the complexity of CF patients' management. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Results of the modification of an acute pancreatitis management protocol in Intensive Care medicine. / Resultados de la modificación de un protocolo de manejo para la pancreatitis aguda en Medicina Intensiva.

OBJECTIVE: To determine whether the implementation of a protocol for the management of patients with acute pancreatitis (AP) in an Intensive Care Unit (ICU) improves the clinical outcomes. DESIGN: A retrospective, before-after observational case series study was carried out. STUDY PERIOD: 1 January 2001 to 31 December 2016, divided in 2 periods (pre-protocol 2001-2007, post-protocol 2008-2016). SCOPE: An ICU with 48 beds and a recruitment population of 700,000 inhabitants. PARTICIPANTS: AP patients admitted to the ICU, with no exclusion criteria. INTERVENTIONS: The recommendations proposed in the 7th Consensus Conference of the SEMICYUC on AP (5 September 2007) were applied in the second period. MAIN VARIABLES OF INTEREST: Patient age, sex, APACHE II, SOFA, study period, pre-ICU hospital stay, nutrition, surgery, antibiotic prophylaxis, hospital mortality, ICU length of stay, hospital length of stay, determinant-based classification. RESULTS: The study comprised 286 patients (94 in the pre-protocol period, 192 in the post-protocol period), with a global in-hospital mortality rate of 23.1% (n=66). Application of the protocol decreased the pre-ICU hospital stay and the use of antibiotic prophylaxis, and increased the use of enteral nutrition. Hospital mortality decreased in the second period (35.1 vs. 17.18%; P=.001), with no significant changes in ICU and hospital stays. In the multivariate logistic regression analysis, the variable period of treatment remained as a variable of statistical significance in terms of hospital mortality (OR 0.34 for the period 2008-2016, 95% CI 0.15-0.74). CONCLUSIONS: The implementation of a protocol could result in decreased mortality among AP patients admitted to the ICU.