Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.

INTRODUCTION: Spastic paraplegia (SPG) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations. Despite of the new molecular technologies, many patients remain yet undiagnosed. OBJECTIVE: The purpose of this study was to describe the clinical presentation and molecular characteristics of a cohort of 27 patients from 18 different families with SPG in the south of Spain. METHODS: We used a targeted next-generation sequencing (NGS) approach to study a proband from each family. RESULTS: Variants in SPG11 gene were the most common cause of SPG in our area. We made a genetic diagnosis in 52% of cases, identified 3 novel variants and reclassified one uncertain variant in SPG11 gene as pathogenic variant. We identified a patient with two truncanting mutations in SPG11 gene and late onset disease and report another missense mutation outside of motor domain of KIF1A gene in a family with pure SPG. CONCLUSION: Our study contributes to enhance the scientific knowledge of SPG. It is important to note the large group of cases (48%) that were not genetically diagnosed in our cohort. Therefore NGS approach is an efficient diagnostic tool, but it still large the number of non-diagnosed subjects, suggesting further genetic heterogeneity.

Effectiveness of a multimodal training programme to improve general practitioners' burnout, job satisfaction and psychological well-being.

BACKGROUND: The changes in the models of care for mental disorders towards a community focus and deinstitutionalisation might have risen General practitioners' (GPs) workload, increasing their mental health concerns and the need for solutions. Pragmatic research into improving GPs' work-related health and psychological well-being is limited by focusing mainly on stressors and through not providing systematic attention to the development of positive mental health via interventions that develop psychological resources and capacities. The aim of this study was twofold: a) to determine the effectiveness of an intensive multimodal training programme for GPs designed to improve their management of mental-health patients; and b) to ascertain if the program could be also useful to improve the GPs management of their own burnout, job satisfaction and psychological well-being. METHOD: Eighteen GPs constituted a control group that underwent the routine clinical Mental health support programme for primary care. An experimental group (N = 20) additionally received a Multimodal training programme (MTP) with an Integrated Brief Systemic Therapy (IBST) approach. Through questionnaires and a clinical interview, level of burnout, professional satisfaction, psychopathological state and various indicators of the quality of administrative and healthcare management were analysed at baseline and 10 months after the programme. RESULTS: In relation to government of mental-health patients indicators, on the one hand MTP group showed statistically significant improvements in certain administrative health parameters, but on the other it did not improve opinions and attitudes towards mental illness. Regarding GPs management of their own burnout, job satisfaction and psychological well-being assessments, the MTP presented better scores on global psychopathological state and better evolution of satisfaction at work; psychopharmacology use dropped in both groups; in contrast, the MTP did not improve burnout levels. CONCLUSIONS: Findings of this preliminary study are promising for the MTP (with an IBST approach) practice in primary care. More research evidence is required from larger samples and randomized controlled trials to support both the hypothetical adoption of MTP (with an IBST approach) as a part of a continuing professional-training programme for GPs' management of mental-health patients and its positive effects on work-related health factors.

Preliminary analysis of a shortened picture version of the Free and Cued Selective Reminding Test.

INTRODUCTION: A picture version of the Free and Cued Selective Reminding Test (FCSRT) would assist in the assessment of memory function in patients with low levels of schooling. A shortened version would improve the test's applicability. OBJECTIVES: To analyse the diagnostic usefulness of a shortened picture version of the FCSRT for distinguishing patients with amnestic mild cognitive impairment (aMCI) from controls, without excluding participants with a low level of schooling. METHODS: Phase I study of a diagnostic evaluation (convenience sampling; pre-test prevalence 50%). A blinded researcher independently administered the FCSRT to 30 patients with aMCI and 30 controls matched for age, sex, level of schooling and literacy, using images and omitting the usual 30-minutes delayed recall item. Three variables were recorded: free recall, total recall, and cue efficiency. Diagnostic accuracy was calculated using receiver operating characteristic curves and the area under the curve. The Youden index was used to identify optimal cut-off points. RESULTS: Of all participants, 41.7% had not completed primary education. There were no differences between groups as regards sociodemographic variables. Area under the curve was excellent for free recall (0.99), total recall (0.95), and cue efficiency (0.93). The optimal cut-off points were 21/22, 43/44, and < 0.77, respectively. CONCLUSIONS: This preliminary analysis shows that a shortened picture version of the FCSRT may be useful and applicable for the diagnosis of aMCI without excluding individuals with a low level of schooling.

Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort.

The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in patients with Parkinson's disease (PD) and in control subjects (CS) as well as the relationship between ICDs/CBs and motor, nonmotor features and dopaminergic treatment in PD patients. Data came from COPPADIS-2015, an observational, descriptive, nationwide (Spain) study. We used the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) for ICD/CB screening. The association between demographic data and ICDs/CBs was analyzed in both groups. In PD, this relationship was evaluated using clinical features and treatment-related data. As result, 613 PD patients (mean age 62.47 ± 9.09 years, 59.87% men) and 179 CS (mean age 60.84 ± 8.33 years, 47.48% men) were included. ICDs and CBs were more frequent in PD (ICDs 12.7% vs. 1.6%, p < 0.001; CBs 7.18% vs. 1.67%, p = 0.01). PD patients had more frequent previous ICDs history, premorbid impulsive personality and antidepressant treatment (p < 0.05) compared with CS. In PD, patients with ICDs/CBs presented younger age at disease onset, more frequent history of previous ICDs and premorbid personality (p < 0.05), as well as higher comorbidity with nonmotor symptoms, including depression and poor quality of life. Treatment with dopamine agonists increased the risk of ICDs/CBs, being dose dependent (p < 0.05). As conclusions, ICDs and CBs were more frequent in patients with PD than in CS. More nonmotor symptoms were present in patients with PD who had ICDs/CBs compared with those without. Dopamine agonists have a prominent effect on ICDs/CBs, which could be influenced by dose.

Preliminary analysis of a shortened picture version of the Free and Cued Selective Reminding Test. / Evaluación preliminar de una versión pictórica y abreviada del Free and Cued Selective Reminding Test.

INTRODUCTION: A picture version of the Free and Cued Selective Reminding Test (FCSRT) would assist in the assessment of memory function in patients with low levels of schooling. A shortened version would improve the test's applicability. OBJECTIVES: To analyse the diagnostic usefulness of a shortened picture version of the FCSRT for distinguishing patients with amnestic mild cognitive impairment (aMCI) from controls, without excluding participants with a low level of schooling. METHODS: Phase I study of a diagnostic evaluation (convenience sampling; pre-test prevalence 50%). A blinded researcher independently administered the FCSRT to 30 patients with aMCI and 30 controls matched for age, sex, level of schooling and literacy, using images and omitting the usual 30-minute delayed recall item. Three variables were recorded: free recall, total recall, and cue efficiency. Diagnostic accuracy was calculated using receiver operating characteristic curves and the area under the curve. The Youden index was used to identify optimal cut-off points. RESULTS: Of all participants, 41.7% had not completed primary education. There were no differences between groups as regards sociodemographic variables. Area under the curve was excellent for free recall (0.99), total recall (0.95), and cue efficiecy (0.93). The optimal cut-off points were 21/22, 43/44, and < 0.77, respectively. CONCLUSIONS: This preliminary analysis shows that a shortened picture version of the FCSRT may be useful and applicable for the diagnosis of aMCI without excluding individuals with a low level of schooling.

Psychometric evaluation of the Spanish version of CONNECT: a measure of continuity of care in mental health services.

This article provides the results of the psychometric testing of the Spanish version of CONNECT(-S), a measure of continuity of care in mental health services. CONNECT-S is a multidimensional measure designed for use with seriously mentally ill respondents. Consisting of 12 scales and one single-item indicator, it addresses qualities of interaction in current relationships between mental health service providers and consumers in five conceptual domains: (1) practitioner knowledge of their clients, (2) creating flexibility, (3) practitioner availability, (4) practitioner co-ordination, and (5) smoothing transitions. One-hundred-and-fifty participants took part in the study. Participants were recruited from mental health outpatient clinics in both the Puerto Rican (n = 109) and the San Antonio (n = 41) samples. Internal consistency for scales in a combined site estimate ranged from 0.68 to 0.96. Test-retest reliability ranged from fair to substantial in all but one scale. Concurrent validity hypotheses based on a priori predictions were mostly supported. The Spanish translation and adaptation of CONNECT-S provided sound psychometric results across both sites. CONNECT-S addresses the gap in measurement of continuity of care for the two largest US Latino subgroups, Mexican Americans and Puerto Ricans; and provides an encouraging starting point for a measure that is both relevant and culturally sensitive.

Association of t(9;11)-MLL AF9 and trisomy 8 in an AML-M5 preceded by pancytopenia.

The implication of MLL gene rearrangements in the prognosis of acute myeloblastic leukemia is an issue of considerable current interest. We report a case of a young man who initially presented with a pancytopenia and went on to develop a highly-aggressive acute myeloblastic leukemia. At this time, the karyotypic study revealed trisomy 8, a t(9;11) was demonstrated by fluorescence in situ hybridization (FISH) and the MLL/AF4 rearrangement by reverse transcriptase-polymerase chain reaction (RT-PCR).

Cross-ethnic symptom differences in schizophrenia: the influence of culture and minority status.

The two objectives of this tri-ethnic study were (1) to test competing hypotheses from the minority status and ethnic culture perspectives in examining cross-ethnic symptom differences in schizophrenia and (2) to test cultural mediators of the symptom differences. Analyses were done on samples of minority (African-American and Latino) and nonminority (white) groups. Hypothesized cross-ethnic symptom differences were tested, and indicators of sociocentricity were examined as cultural mediators of symptom differences. The sample consisted of 184 individuals (51.6% white, 32.6% African-American, 15.8% Latino, 75% male) diagnosed with schizophrenia in an outpatient, urban setting. Symptom variables were obtained from the Brief Psychiatric Rating Scale and the Quality of Life Scale. Two sociocentric indicators (empathy and social competence) were used to differentiate minority from nonminority groups. Multiple regression was used to test the mediational influence of the sociocentric indicators on the symptom differences. After controlling for social class, significant differences were found in eight symptom variables. These showed the nonminority group to be consistently more symptomatic than the ethnic minority groups, findings which supported the ethnic culture hypothesis. Sociocentric indicators were found to be significant mediators of the cross-ethnic symptom differences. This study supported the ethnic culture hypothesis, which predicted lower symptoms for the ethnic minority groups, and showed that sociocentric variables strongly mediated the more benign symptom profile for the ethnic minority groups. The study indicates that culture should be more fully integrated into current biopsychosocial models of schizophrenia.

Theory and computer simulation for the equation of state of additive hard-disk fluid mixtures.

A procedure previously developed by the authors to obtain the equation of state for a mixture of additive hard spheres on the basis of a pure fluid equation of state is applied here to a binary mixture of additive hard disks in two dimensions. The equation of state depends on two parameters which are determined from the second and third virial coefficients for the mixture, which are known exactly. Results are compared with Monte Carlo calculations which are also reported. The agreement between theory and simulation is very good. For the fourth and fifth virial coefficients of the mixture, the equation of state gives results which are also in close agreement with exact numerical values reported in the literature.

The cultural relevance of community support programs.

The research and practice literature was examined to determine whether community support programs are responsive to ethnocultural issues and to derive strategies for developing culturally relevant programming. Great variation exists across cultures in family practices, conceptions of mental illness, stigma attributed to mental illness, and expectations of the provider system. Ethnic minority cultures are typically centered on the family, whereas Western European cultures are characterized as more individualistic and as valuing independence. Research shows that some rehabilitation approaches based on Western models may produce adverse effects when used with patients from ethnic minority groups. Interventions that incorporate family networks and use group modalities are considered culturally congruent. Clients from sociocentric cultures may have strong support networks and display prosocial behaviors that can be tapped in the rehabilitation process. Community support programs should incorporate cultural factors into psychosocial assessments, train staff to conduct ethnographic interviews, and use focus groups to gain an understanding of the cultures of clients they serve.

[Estimate of HIV-1 infection prevalence in pregnant women and effectiveness of zidovudine administered during pregnancy in the prevention of vertical transmission]. / Estimación de la prevalencia de infección por VIH-1 en la embarazada y efectividad de la zidovudina administrada durante la gestación en la prevención de la transmisión vertical.

BACKGROUND: Despite the proven efficacy of zidovudine (ZDV) for reducing perinatal transmission of HIV-1, questions remain about its implementation and effectiveness in routine practice. The aims of this study were to assess the impact of ZDV administered during pregnancy in preventing perinatal HIV-1 transmission, and to determine the proportion of early identification of maternal HIV-1 infection over time. PATIENTS AND METHODS: We prospectively followed from birth a cohort of children born between 1/1/1987 and 31/10/1997 to HIV-1-infected mothers. Infant infection status was assessed by follow-up beyond 18 months or HIV-PCR up to 3 months of age. RESULTS: 229 mothers and 248 infants were identified in the cohort. ZDV was administered during pregnancy as monotherapy to 34 mothers for a mean of 4.7 (3.1) months prior to delivery. There were no differences in baseline characteristics between the treated and untreated groups. Mean (SD) CD4 cell count was 465 (261) cells x 10(6)/l. Factors associated with transmission were a more prolonged time of rupture of obstetric membranes (median 6 vs 1.04 hours; p = 0.023) and ZDV treatment. Among the ZDV-treated mothers only one child was infected (2.9%), whereas 37 children born to 212 untreated women became infected. (OR: 0.14; 95% CI: 0.07-0.92). The estimated prevalence of HIV-1 in pregnant women in our area is about 0.39% (95% CI: 0.34-0.45). From 1987 to 1991, 9.7% of infected women were nor identified at the perinatal period, as compared to 2.5% in the last 5 years of the study period (p = 0.034). CONCLUSIONS: In this study, the estimated prevalence of HIV-1 infection is high. ZDV during pregnancy is significantly associated with a decrease in perinatal transmission in our setting. The awareness of an effective treatment might have contributed to the increased identification of HIV-infected mothers prior to delivery observed over time in our cohort of children born to HIV-infected mothers.

[Radionuclide study of gastric emptying in patients who have undergone Roux-en-Y gastrojejunostomy for postoperative alkaline gastritis]. / Estudio del vaciamiento gástrico con radionucleidos en pacientes sometidos a gastroyeyunostomía en Y de Roux por gastritis alcalina postoperatoria.

Roux-en-Y reconstruction is a widely used surgical procedure to reduce the postoperative gastritis secondary to biliary reflux (POGBR). Some studies have shown that after applying this technique, certain symptoms, called Roux stasis syndrome, ocurred. They seem to be caused by a delayed gastric emptying. The aim of the survey is to evaluate that emptying. Three groups have been studied: Group 1: 15 patients with POGBR after Billroth II and Roux-en-Y diversion. Group 2: 15 patients after Billroth II without POGBR. Group 3: 15 healthy volunteers. The gastric emptying after a 99mTc-DTPA-meal was performed in every patient. The stadistical study from the T1/2 emptying showed no significative differences between group 1 before and after Roux-en-Y procedure, nor between these and group 2 and 3. The gastric emptying study does not demonstrate that Roux-en-Y delays it, so it is not the reason of Roux syndrome.

[Minor cutaneous ambulatory surgery and cryotherapy. Comparative study between a dermatologist and family physicians]. / Cirugía menor ambulatoria dermatológica y crioterapia. Estudio comparativo entre un dermatólogo y médicos de familia.

INTRODUCTION: Lack of diagnostic skill in cutaneous surgery may lead to erroneous and potentially detrimental therapies. This study compares the diagnosis and treatment in cutaneous surgery, including cryotherapy, between a dermatologist and family physicians. METHODS: It is an observational, prospective study on a random sample of patients that consulted the dermatologist for candidate lesions. Each lesion was independently evaluated by a dermatologist and a family physician, both of whom assigned the clinical diagnosis and therapeutic advice. Concordance for diagnosis, recommended treatment and indication for cryotherapy was calculated by Cohen's kappa coefficient. RESULTS: Six hundred forty-six lesions were evaluated. Global kappa indexes were 0.69 (95 % CI, 0.65-0.73) for diagnostic concordance, 0.62 (95 % CI, 0.56-0.67) for recommended treatment and 0.73 (95 % CI, 0.67-0.78) for indication of cryotherapy. Diagnostic concordance was significantly better for melanocytic nevus, achrocordon and for lesions with multiple and monomorphous presentation, and worse for isolated pigmented lesions. For recommended treatment concordance was better for multiple and monomorphous lesions and worse for skin cancer and seborrheic keratosis. For indication of cryotherapy concordance was worse for skin cancer, melanocytic nevus, acrochordon and seborrheic keratosis. Family physicians made an erroneous indication for cryotherapy in 5.88 % of cases, including 3 non melanoma skin cancers. CONCLUSIONS: Concordance between dermatologists and family physicians for minor cutaneous surgery is generally good. Family physicians should be more careful in evaluating solitary pigmented lesions and patients at risk for skin cancer.

Ultrasound-assisted extraction of volatile compounds from wine samples: optimisation of the method.

This study describes a liquid-liquid extraction technique for extracting volatile compounds from wine using dichloromethane and ultrasounds. This technique permits the simultaneous extraction of different samples with high reproducibility. After the preliminary tests, several parameters (sample volume, solvent volume and extraction time) were optimised using a factorial design to obtain the most relevant variables. The analytical characteristics were obtained such as calibration graphs, detection limits ranging from 0.0238 mg L(-1) for 1-pentanol to 0.261 mg L(-1) for octanoic acid, quantification limits and relative standard deviation from 2.1 to 6.2%. Extraction yields were calculated giving a range 9.16-1.2%. The optimised conditions were applied to the extraction of samples of young wines from the Denominación de Origen Calificada Rioja category using gas chromatography and a flame ionisation detector.

Culture and schizophrenia: a cross-ethnic growth curve analysis.

This study examined the longitudinal trajectory of a sociocentric construct among African-Americans, Latinos, and nonminorities. Participants were 163 individuals diagnosed with schizophrenia who were admitted to community-based psychosocial programs. Previous research had established empathy and social competence as sociocentric cultural mediators of a benign symptom profile for ethnic minorities. Data on sociocentric indicators were collected every 6 months for over 3 years. Growth curve methodology was used to examine the empathy and social competence outcomes over time and across ethnic groups. The results revealed a dynamic course for both sociocentric mediators. However, the dynamic growth curve for empathy was related to ethnicity; for social competence it was not. Empathy levels for African-Americans decreased and then attenuated, whereas empathy levels for Latinos decreased over the entire study. Nonminorities showed very little change overall. The nature of sociocentric phenomena is dynamic and complex. These qualities can apparently be cultivated or diminished over time.