Aspectos evolutivos del trabajo en equipo en el hospital de dia de la comarca del bages (1997-2019) / No disponible

La atención sanitaria en la salud mental de Cataluña define la existencia de los recursos de hospitalización parcial en su cartera de servicios, y específicamente en la comarca del Bages. La evolución de las políticas sanitarias en materia de salud mental, con la incorporación de recursos en la comunidad, así como la introducción de estrategias asistenciales centradas en el paciente ha determinado cambios en la forma de intervenir de la Unidad de Hospitalización Parcial en la comarca del Bages en sus treinta dos años de funcionamiento. En este sentido se redefinen los modelos de intervención, pasando inicialmente de un sistema unidireccional, estrictamente clínico y centrado en el recurso, a un esquema polidireccional, que se define como multidisciplinar, con implicación directa del paciente y enmarcado en un modelo integral más allá del dispositivo

The partial hospitalización was defined into the services who attend the people with mental health. The aim of this study was to identify how the changes about community policies and the new strategies specifically focused of the patient lead to changes in the mode to threat the patients admitted in the partial hospitalización of the Bages' región. The result was define in a polidyrectional system with three basic principles: multidisciplinary team, direct involvement of the patient and integral plan

Evaluation and measurement of heliostat misalignment in solar power plant using vector model.

Heliostat alignment evaluation is among the main issues in solar tower concentration plant operation and maintenance. This paper describes a novel method used to evaluate heliostat misalignment and its experimental verification. This method provides a different way of visualizing beam centroid pointing errors by generating the complete deviation curve for each axis. This, for example, would be useful for verifying a heliostat's correct alignment by using a measurement performed out of the receiver target, using these traces to calculate its reflection's expected location, given a known misalignment. This measurement could be performed during operation simply by including a reflective element in the heliostat and two detector arrays on the tower's surface. This model has been tested for various types of misalignments of a heliostat at different hours, dates, and heliostat locations. The simulation results have been validated by using an experimental setup at a scale of 1:100.

Rapid Response Teams: a great opportunity / Equipos de Respuesta Rápida: Una gran oportunidad

No disponible

Benefit in long-term response and mortality of treatment with intravenous immunoglobulin prior to plasmapheresis in peripheral polyneuropathies.

OBJECTIVES: The benefits of plasmapheresis (PA) for neurologic autoimmune diseases have been widely demonstrated. Little is known about the long-term neurologic prognosis and course after PA and immunosuppressive (IS) and/or intravenous immunoglobulin (IVIG) treatment. We aimed to analyse features associated with short-term response and long-term outcome and prognosis (neurologic status and mortality) of peripheral polyneuropathy (PP) and central nervous system acute inflammatory disease (CNSAID) treated with PA. PATIENTS AND METHODS: A descriptive, retrospective single-centre study from January 2005 to December 2012. RESULTS: There were 26 episodes, which included 16 CNSAID and 10 PP cases. First line therapy included PA (n=4), IS drugs (n=15), and IVIG (n=7). Responses were achieved in 80% and 50% of PP and CNSAID cases, respectively. For PP, first line treatment with IVIG and no IS treatment prior to or during PA were variables associated with short-term response (P=0.067), good or stable neurologic status at the end of follow-up (P=0.008), and lower mortality rate (P=0.008). For CNSAID, initial EDSS score≥7 (P=0.019) was related to long-term good or stable neurologic status. During the study period, 177 sessions were conducted; 3.4% had technical complications and 8.5% clinical complications. However, these incidents were all minor and no PA session had to be discontinued. CONCLUSION: The response rates achieved in our patients were similar to those of other research. PA has a safe profile but double-blind, controlled studies are needed to evaluate the synergy of sequential treatment with IGIV followed by PA and the possible benefit for long-term outcome.

Efecto sobre la mortalidad de la ampliación a los festivos y fines de semana del proyecto «UCI sin paredes». Estudio before-after / Effect upon mortality of the extension to holidays and weekends of the «ICU without walls» project. A before-after study

OBJETIVO: Estudiar si la ampliación, a festivos y fines de semana, del protocolo de detección proactiva precoz de gravedad en el hospital y actuación de intensivistas en planta convencional y urgencias (actividad «UCI sin paredes») se asocia a una reducción en la mortalidad de los pacientes ingresados en UCI en esos días. DISEÑO: Estudio cuasi experimental before-after. ÁMBITO: Hospital de nivel 2 con 210 camas en funcionamiento y UCI polivalente con 8 camas. PACIENTES O PARTICIPANTES: En el grupo control, donde no se realiza la actividad «UCI sin paredes» los fines de semana ni festivos, se incluyeron los pacientes ingresados en la UCI esos días del 1 de enero de 2010 al 30 de abril de 2013. En el grupo intervención se amplió la actividad «UCI sin paredes» a los fines de semana y festivos y se incluyeron los pacientes ingresados esos días del 1 de mayo de 2013 al 31 de octubre de 2014. Se excluyeron los pacientes procedentes de quirófano tras una cirugía programada. Variables de interés: Se analizaron las variables demográficas (edad, sexo), la procedencia (urgencias, planta de hospitalización, quirófano), el tipo de paciente (médico, quirúrgico), el motivo de ingreso, las comorbilidades y el SAPS 3 como puntuación de gravedad al ingreso, estancia en UCI y hospitalaria, además de la mortalidad en la UCI y en el hospital. RESULTADOS: Se incluyeron en el grupo control 389 pacientes, y 161 en el grupo intervención. No se encontraron diferencias entre ambos grupos, salvo en la comorbilidad cardiovascular (un 49% en el grupo control frente a un 33% en el grupo intervención; p < 0,001), en la gravedad al ingreso medida mediante el SAPS 3 (mediana de 52 [percentiles 25-75: 42-63] en el grupo control frente a 48 [percentiles 25-75: 40-56] en el grupo intervención; p= 0,008) y en la mortalidad en UCI, que fue de un 11% en el grupo control (IC 95% 8 a 14) frente al 3% (IC 95% 1 a 7) en el grupo intervención (p = 0,003). En el análisis multivariable, los 2 únicos factores asociados con la mortalidad en UCI fueron: SAPS 3 (OR 1,08; IC 95% 1,06-1,11) y el pertenecer al grupo intervención (OR 0,33; IC 95% 0,12-0,89). CONCLUSIONES: La ampliación de la actividad «UCI sin paredes» a los fines de semana y festivos conlleva un descenso en la mortalidad en la UCI

OBJECTIVE: To determine whether extension to holidays and weekends of the protocol for the early proactive detection of severity in hospital («ICU without walls» project) results in decreased mortality among patients admitted to the ICU during those days. DESIGN: A quasi-experimental before-after study was carried out. SETTING: A level 2 hospital with 210 beds and a polyvalent ICU with 8 beds. PATIENTS OR PARTICIPANTS: The control group involved no «ICU without walls» activity on holidays or weekends and included those patients admitted to the ICU on those days between 1 January 2010 and 30 April 2013. The intervention group in turn extended the «ICU without walls» activity to holidays and weekends, and included those patients admitted on those days between 1 May 2013 and 31 October 2014. Patients arriving from the operating room after scheduled surgery were excluded. Variables of interest: An analysis was made of the demographic variables (age, gender), origin (emergency room, hospital ward, operating room), type of patient (medical, surgical), reason for admission, comorbidities and SAPS 3 score as a measure of severity upon admission, stay in the ICU and in hospital, and mortality in the ICU and in hospital. RESULTS: A total of 389 and 161 patients were included in the control group and intervention group, respectively. There were no differences between the 2 groups except as regards cardiovascular comorbidity (49% in the control group versus 33% in the intervention group; P < .001), severity upon admission (median SAPS 3 score 52 [percentiles 25-75: 42-63) in the control group versus 48 [percentiles 25-75: 40-56] in the intervention group; P = .008) and mortality in the ICU (11% in the control group [95% CI 8-14] versus 3% [95% CI 1-7] in the intervention group; P = .003). In the multivariate analysis, the only 2 factors associated to mortality in the ICU were the SAPS 3 score (OR 1.08; 95% CI 1.06-1.11) and inclusion in the intervention group (OR 0.33; 95% CI 0.12-0.89). CONCLUSIONS: Extension of the «ICU without walls» activity to holidays and weekends results in a decrease in mortality in the ICU

Efecto del momento de ingreso sobre el pronóstico de los pacientes en la Unidad de Cuidados Intensivos: on-hours vs. off-hours / Effect of the timing of admission upon patient prognosis in the Intensive Care Unit: On-hours versus off-hours

OBJETIVO: Evaluar la repercusión del momento de ingreso en UCI sobre el pronóstico de los pacientes. DISEÑO: Estudio de cohorte prospectivo, observacional y no intervencionista. Se consideró on-hours el turno de mañana y tarde de los días laborables y off-hours el resto de los turnos. ÁMBITO: Hospital de nivel 2 con 210 camas en funcionamiento y UCI polivalente con 8 camas. PACIENTES O PARTICIPANTES: Todos los pacientes que ingresaron en la UCI durante 3 años, de enero de 2010 a diciembre de 2012, excluyendo aquellos pacientes procedentes de quirófano tras una cirugía programada. Los pacientes se estratificaron en 2 grupos en función de que el momento de ingreso fuera on-hours u off-hours. Intervenciones: Estudio no intervencionista. VARIABLES DE INTERÉS: Se analizaron las variables demográficas (edad, sexo), la procedencia (urgencias, planta de hospitalización, quirófano), el tipo de paciente (médico, quirúrgico), las comorbilidades y el SAPS 3 como puntuación de gravedad al ingreso, estancia en UCI y hospitalaria, además de mortalidad en la UCI y en el hospital. RESULTADOS: Se incluyeron 504 pacientes en el grupo on-hours y 602 en el grupo off-hours. En el análisis multivariable los factores asociados de forma independiente con la mortalidad hospitalaria fueron SAPS 3 (OR 1,10; IC 95% 1,08-1,12) y grupo off-hours (OR 2,00; IC 95% 1,20-3,33). En un análisis de subgrupos del grupo off-hours el ingreso de los pacientes en fin de semana o festivo frente a las noches de los días de diario se asoció de forma independiente con la mortalidad hospitalaria (OR 2,30; IC 95% 1,23-4,30). CONCLUSIONES: Ingresar en el grupo off-hours se asocia de forma independiente con la mortalidad. El ingreso en festivo se asocia de forma independiente con la mortalidad, independientemente del turno en que se produzca el ingreso los días de diario

OBJECTIVE: To assess the repercussion of the timing of admission to the ICU upon patient prognosis. DESIGN: A prospective, observational, non-interventional cohort study was carried out. Scope: A second level hospital with 210 operational beds and a general ICU with 8 operational beds. PATIENTS OR PARTICIPANTS: The study comprised all patients admitted to the ICU during 3 years (January 2010 to December 2012), excluding those subjects admitted from the operating room after scheduled surgery. The patients were divided into 2 groups according to the timing of admission (on-hours or off-hours). INTERVENTIONS: Non-interventional study. VARIABLES OF INTEREST: An analysis was made of demographic variables (age, sex), origin (emergency room, hospital ward, operating room), comorbidities and SAPS 3 as severity score upon admission, length of stay in the ICU and hospital ward, and ICU and hospital mortality. RESULTS: A total of 504 patients were included in the on-hours group, versus 602 in the off-hours group. Multivariate analysis showed the factors independently associated to hospital mortality to be SAPS 3 (OR 1.10; 95% CI 1.08-1.12), and off-hours admission (OR 2.00; 95% CI 1.20-3.33). In a subgroup analysis of the off-hours group, the admission of patients on weekends or non-working days compared to daily night shifts was found to be independently associated to hospital mortality (OR 2.30; 95% CI 1.23-4.30). CONCLUSIONS: Admission to the ICU in off-hours is independently associated to patient mortality, which is also higher in patients admitted on weekends and non-working days compared to the daily night shifts

Effect upon mortality of the extension to holidays and weekends of the "ICU without walls" project. A before-after study. / Efecto sobre la mortalidad de la ampliación a los festivos y fines de semana del proyecto «UCI sin paredes¼. Estudio before-after.

OBJECTIVE: To determine whether extension to holidays and weekends of the protocol for the early proactive detection of severity in hospital ("ICU without walls" project) results in decreased mortality among patients admitted to the ICU during those days. DESIGN: A quasi-experimental before-after study was carried out. SETTING: A level 2 hospital with 210 beds and a polyvalent ICU with 8 beds. PATIENTS OR PARTICIPANTS: The control group involved no "ICU without walls" activity on holidays or weekends and included those patients admitted to the ICU on those days between 1 January 2010 and 30 April 2013. The intervention group in turn extended the "ICU without walls" activity to holidays and weekends, and included those patients admitted on those days between 1 May 2013 and 31 October 2014. Patients arriving from the operating room after scheduled surgery were excluded. VARIABLES OF INTEREST: An analysis was made of the demographic variables (age, gender), origin (emergency room, hospital ward, operating room), type of patient (medical, surgical), reason for admission, comorbidities and SAPS 3 score as a measure of severity upon admission, stay in the ICU and in hospital, and mortality in the ICU and in hospital. RESULTS: A total of 389 and 161 patients were included in the control group and intervention group, respectively. There were no differences between the 2 groups except as regards cardiovascular comorbidity (49% in the control group versus 33% in the intervention group; P<.001), severity upon admission (median SAPS 3 score 52 [percentiles 25-75: 42-63) in the control group versus 48 [percentiles 25-75: 40-56] in the intervention group; P=.008) and mortality in the ICU (11% in the control group [95% CI 8-14] versus 3% [95% CI 1-7] in the intervention group; P=.003). In the multivariate analysis, the only 2 factors associated to mortality in the ICU were the SAPS 3 score (OR 1.08; 95% CI 1.06-1.11) and inclusion in the intervention group (OR 0.33; 95% CI 0.12-0.89). CONCLUSIONS: Extension of the "ICU without walls" activity to holidays and weekends results in a decrease in mortality in the ICU.

Effect of the timing of admission upon patient prognosis in the Intensive Care Unit: On-hours versus off-hours.

OBJECTIVE: To assess the repercussion of the timing of admission to the ICU upon patient prognosis. DESIGN: A prospective, observational, non-interventional cohort study was carried out. SCOPE: A second level hospital with 210 operational beds and a general ICU with 8 operational beds. PATIENTS OR PARTICIPANTS: The study comprised all patients admitted to the ICU during 3 years (January 2010 to December 2012), excluding those subjects admitted from the operating room after scheduled surgery. The patients were divided into 2 groups according to the timing of admission (on-hours or off-hours). INTERVENTIONS: Non-interventional study. VARIABLES OF INTEREST: An analysis was made of demographic variables (age, sex), origin (emergency room, hospital ward, operating room), comorbidities and SAPS 3 as severity score upon admission, length of stay in the ICU and hospital ward, and ICU and hospital mortality. RESULTS: A total of 504 patients were included in the on-hours group, versus 602 in the off-hours group. Multivariate analysis showed the factors independently associated to hospital mortality to be SAPS 3 (OR 1.10; 95% CI 1.08-1.12), and off-hours admission (OR 2.00; 95% CI 1.20-3.33). In a subgroup analysis of the off-hours group, the admission of patients on weekends or non-working days compared to daily night shifts was found to be independently associated to hospital mortality (OR 2.30; 95% CI 1.23-4.30). CONCLUSIONS: Admission to the ICU in off-hours is independently associated to patient mortality, which is also higher in patients admitted on weekends and non-working days compared to the daily night shifts.

Nasal vaccination of young rainbow trout (Oncorhynchus mykiss) against infectious hematopoietic necrosis and enteric red mouth disease.

Determining the earliest age at which farmed fish can be successfully vaccinated is a very important question for fish farmers. Nasal vaccines are novel mucosal vaccines that prevent aquatic infectious diseases of finfish. The present study investigates the ontogeny of the olfactory organ of rainbow trout by histology and aims to establish the earliest age for vaccination against infectious hematopoietic necrosis (IHN) and enteric red mouth (ERM) disease using the nasal route. Rainbow trout (Oncorhynchus mykiss) were vaccinated intranasally (I.N) at three different ages: 1050° days (DD) (group A); 450 DD (group B); and 360 DD (group C), or 70, 30 and 24 days post-hatch (dph), respectively. The mean weights of groups A, B and C were 4.69 g, 2.9 g and 2.37 g, respectively. Fish received either a live attenuated IHN virus vaccine, ERM formalin killed bacterin or saline (mock vaccinated). Fish were challenged to the corresponding live pathogen 28 days post-vaccination. IHN vaccine delivery at 360 DD resulted in 40% mortality likely due to residual virulence of the vaccine. No mortality was observed in the ERM nasal delivery groups. Following challenge, very high protection rates against IHN virus were recorded in all three age groups with survivals of 95%, 100% and 97.5% in groups A, B and C, respectively. Survival against ERM was 82.5%, 87.5% and 77.5% in groups A, B and C, respectively. Survival rates did not differ among ages for either vaccine. Our results indicate the feasibility and effectiveness of nasal vaccination as early as 360 DD and vaccination-related mortalities when a live attenuated viral vaccine was used in the youngest fish.

The role of dopamine D2, but not D3 or D4, receptor subtypes, in quinpirole-induced inhibition of the cardioaccelerator sympathetic outflow in pithed rats.

BACKGROUND AND PURPOSE: Quinpirole (a dopamine D2-like receptor agonist) inhibits the cardioaccelerator sympathetic outflow in pithed rats by sympathoinhibitory D2-like receptors. The present study was designed to identify pharmacologically the specific D2-like receptor subtypes (i.e. D2 , D3 and D4) involved in this sympathoinhibition by quinpirole. EXPERIMENTAL APPROACH: One hundred fourteen male Wistar rats were pithed, artificially ventilated with room air and prepared for either preganglionic spinal (C7-T1) stimulation of the cardioaccelerator sympathetic outflow (n = 102) or i.v. bolus injections of exogenous noradrenaline (n = 12). This approach resulted in frequency-dependent and dose-dependent tachycardic responses, respectively, as previously reported by our group. KEY RESULTS: I.v. continuous infusions of quinpirole (0.1-10 µg kg(-1) min(-1)), but not of saline (0.02 mL min(-1)), dose-dependently inhibited the sympathetically induced tachycardic responses. Moreover, the cardiac sympathoinhibition induced by 3 µg kg(-1) min(-1) quinpirole (which failed to affect the tachycardic responses to i.v. noradrenaline) was: (i) unchanged after i.v. injections of the antagonists SB-277011-A (D3 ; 100-300 µg kg(-1)) or L-745,870 (D4 ; 30-100 µg kg(-1)); and (ii) markedly blocked and abolished by, respectively, 100 and 300 µg kg(-1) of the D2 preferring receptor subtype antagonist L-741,626. These doses of antagonists, which did not affect per se the sympathetically induced tachycardic responses, were high enough to completely block their respective receptors. CONCLUSIONS AND IMPLICATIONS: The cardiac sympathoinhibition induced by 3 µg kg(-1) min(-1) quinpirole involves the dopamine D2 receptor subtype, with no evidence for the involvement of the D3 or D4 subtypes. This provides new evidence for understanding the modulation of the cardioaccelerator sympathetic outflow.

The ontogeny of New Zealand groper (Polyprion oxygeneios) lymphoid organs and IgM.

This study investigates the ontogeny of New Zealand groper (Polyprion oxygeneios) immune system, a new species for aquaculture in the Southern Pacific Ocean. In the eggs, both lysozyme and IgM were detected. Egg IgM was found at 1.07-1.56 µg/g wet weight and consisted of monomers compared to the polymerized IgM found in adult serum. In larvae, the head-kidney (HK) was first observed at 6 dph, followed by the spleen at 16 dph, and thymus at 20 dph, and within these organs IgM(+) cells were first detected in the HK (12 dph), then the spleen (32 dph) and finally in the thymus and the gastrointestinal tract (45 dph). Low levels of Igµ heavy chain transcripts were detected at 2 and 3 dph and they increased at 9 dph. Igµ expression further increased from day 45 onwards. In juveniles (115 dph), the HK and blood showed similar percentages of IgM(+) cells as the adult groper. These results highlight the important maturation steps that occur during the development of the immune system in the marine teleost P. oxygeneios.

Early development of New Zealand hapuku Polyprion oxygeneios eggs and larvae.

This study describes for the first time the normal development of New Zealand hapuku Polyprion oxygeneios embryos and larvae reared from fertilization to 11 days post-hatch (dph) at a constant temperature. Fertilized eggs were obtained from natural spawnings from communally reared captive wild broodstock. Eggs averaged 2 mm in diameter and had single or multiple oil globules. Embryos developed following the main fish embryological stages and required an average of 1859·50 degree hours post-fertilization (dhpf) to hatch. The newly hatched larvae (4·86 mm mean total length, L(T) ) were undifferentiated, with unpigmented eyes, a single and simple alimentary tube and a finfold that covered the entire body. Larvae relied on the energy from the yolk-sac reserves until 11 dph (7·33 mm mean L(T) ), when yolk-sac reabsorption was almost completed. Some of the major developmental stages from hatching to yolk-sac reabsorption were eye pigmentation (5 dph), upper jaw formation (7 dph), lower jaw formation (8 dph) and mouth opening (8-9 dph). By 9 dph, the digestive system consisted of pancreas, liver, primordial stomach, anterior and posterior gut; therefore, P. oxygeneios larvae would be capable of feeding on live prey. The developmental, morphological and histological data described constitutes essential baseline information on P. oxygeneios biology and normal development.

Characterization of acid phosphatases from marine scuticociliate parasites and their activation by host's factors.

Scuticociliates are histophagous marine parasites that cause mortality in fish. Acid phosphatases (AcPs) are considered virulence factors and they are used by different parasites to dephosphorylate host molecules. The aim of this work was to characterize the AcPs from 3 scuticociliate species, Uronema marinum, Miamiensis avidus and Parauronema virginianum, which parasitize marine finfish species. We identified AcP activity (pH 5.2) with differential cellular distribution in the 3 parasite species. Native gel electrophoresis of ciliate lysates revealed the presence of 1 high molecular weight AcP activity band in M. avidus (tartrate-sensitive), several low molecular weight AcPs in U. marinum and 1 low molecular weight band only in P. virginianum (tartrate-resistant). Scuticociliate AcP was inhibited by specific inhibitors of tyrosine protein phosphatases. AcP decreased upon starvation but rapid reactivation occurred following exposure to skin mucus. Groper (Polyprion oxygeneios) peripheral blood leucocytes (PBLs) and, to a lesser extent, red blood cells, also increased AcP activity. Protein tyrosine phosphatase PTP1b was primarily detected in the plasma membrane of M. avidus and ingestion of groper PBLs upregulated its expression. M. avidus recovered from experimentally infected groper had greater levels of PTP1b expression than the injected suspension. The present results highlight the importance of PTPs in histophagous parasites and their interaction with fish host's factors.

Serum autoimmune gastritis markers, pepsinogen I and parietal cell antibodies, in patients with type 1 diabetes mellitus: a 5-year prospective study.

BACKGROUND AND AIM: To determine the temporal evolution of serum markers of autoimmune gastritis, mainly pepsinogen I (PI) and parietal cell antibodies (PCA), in patients with Type 1 diabetes mellitus (DM1). MATERIALS AND METHODS: A 5-yr prospective follow-up study of 168 DM1 patients (87 men, aged 31 ± 9.3 yr) attending the endocrinology outpatient clinic of a university hospital evaluated in 2001 and 2006. Serum PI, gastrin, hemoglobin, cobalamin concentrations, PCA and antibodies to intrinsic factor were measured. RESULTS: In 2001, 11 patients had low PI concentrations and positive PCA (group I), 11 had only low PI concentrations (group II), and 33 had only positive PCA (group III). After 5 yr, PI remained low and PCA positive in all patients from group I. In group II, PI remained low in 4 and normalized in 7. In group III, 4 patients presented low PI concentrations after 5 yr, which remained normal in the other 29 subjects. PCA became negative in 17 patients from group III. In 2001, 3 of the 11 patients of group I had low cobalamin concentrations. In 2006, 2 additional patients from this group presented low cobalamin concentrations. CONCLUSIONS: These results show the importance of determining PI together with PCA, since the presence of abnormal results in both tests, that is low PI and positive PCA, is the association that best identifies patients with a higher risk to decrease cobalamin concentrations during follow-up.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.