Disgenesia gonadal completa 46 XY: forma atípica con talla baja / Complete gonadal dysgenesis 46 XY: atypical form with short stature

La disgenesia gonadal completa 46 XY (46, XY CGD) es un trastorno del desarrollo sexual. Se caracteriza por el cariotipo 46 XY, genitales externos femeninos normales, presencia de estructuras müllerianas y gónadas sin desarrollar. Es un síndrome infrecuente, cuyos pacientes tienen un fenotipo femenino normal y una talla normal o alta, por lo que se diagnostican por retraso puberal o amenorrea primaria. La mayoría de los pacientes con 46, XY CGD muestran un gen SRY normal. Asociado a la presencia de un cromosoma Y, existe un riesgo marcado de tumores gonadales, especialmente después de la pubertad. El gonadoblastoma es el tumor más frecuente y tiene un alto riesgo de malignización hacia disgerminoma. Presentamos el caso de una niña que consulta a los 8 años de edad por talla baja. A la exploración la paciente presenta un fenotipo femenino normal, genitales externos femeninos, con estadio de Tanner I, peso de 21,6 kg (DE -1,43) y talla de 115,4 cm (DE -3,1). El laboratorio reveló test de estimulación con gonadotropina coriónica humana sin respuesta de testosterona y hormona antimülleriana <1 pmol/L. El cariotipo en sangre periférica es informado como 46 XY, con presencia del gen SRY. La resonancia magnética abdominal mostró la presencia de vagina, útero hipoplásico y ausencia de gónadas. Se realiza gonadectomía bilateral laparoscópica. El análisis anatomopatológico confirmó la presencia de gonadoblastoma puro bilateral de ovarios. Los hallazgos permiten confirmar el diagnóstico de 46, XY CGD. La novedad del caso radica en su baja frecuencia de aparición, la edad del diagnóstico y la presentación con una talla baja

Complete gonadal dysgenesis 46 XY (46, XY CGD) is a disorder of sexual development. It is characterized by 46 XY karyotype, normal female external genitalia, presence of Müllerian structures, and undeveloped gonads. It is a rare syndrome, in which patients have normal female phenotype, with normal or increased height, diagnosed by delayed pubertal or primary amenorrhea. The majority of patients with 46, XY CGD show a normal SRY gene. In gonadal dysgenesis associated with the presence of a Y chromosome there is a marked risk of gonadal tumors, especially after puberty. Gonadoblastoma is the most frequent tumor. It has a high risk of malignancy towards dysgerminoma. We present the case of a girl who consulted at age 8 years for short stature. On physical exam, the patient presented normal female phenotype, female external genitalia, with Tanner stage 1. Weight: 21,6 kg (sds -1,43); height: 115,4 cm (sds -3,1). Laboratory tests revealed stimulation test with HCG, did not show testosterone response, antimüllerian hormone <1 pmol/L. Karyotype in peripheral blood showed 46 XY. Genetic analysis of the SRY gene was extended and no deletions were detected. Abdominal MRI showed a normal vagina, hypoplastic uterus and confirmed the absence of gonads. Exploratory laparoscopy was performed. The anatomopathological analysis confirmed the presence of pure bilateral ovarian gonadoblastoma. Thus, the diagnosis of 46, XY CGD was confirmed. The novelty of this case lies in the rarity of the pathology as well as the clinical picture. Diagnosis before puberty as well as short stature are rare in the context of 46, XY CGD

Performance of the Finnish Diabetes Risk Score and a Simplified Finnish Diabetes Risk Score in a Community-Based, Cross-Sectional Programme for Screening of Undiagnosed Type 2 Diabetes Mellitus and Dysglycaemia in Madrid, Spain: The SPREDIA-2 Study.

AIM: To evaluate the performance of the Finnish Diabetes Risk Score (FINDRISC) and a simplified FINDRISC score (MADRISC) in screening for undiagnosed type 2 diabetes mellitus (UT2DM) and dysglycaemia. METHODS: A population-based, cross-sectional, descriptive study was carried out with participants with UT2DM, ranged between 45-74 years and lived in two districts in the north of metropolitan Madrid (Spain). The FINDRISC and MADRISC scores were evaluated using the area under the receiver operating characteristic curve method (ROC-AUC). Four different gold standards were used for UT2DM and any dysglycaemia, as follows: fasting plasma glucose (FPG), oral glucose tolerance test (OGTT), HbA1c, and OGTT or HbA1c. Dysglycaemia and UT2DM were defined according to American Diabetes Association criteria. RESULTS: The study population comprised 1,426 participants (832 females and 594 males) with a mean age of 62 years (SD = 6.1). When HbA1c or OGTT criteria were used, the prevalence of UT2DM was 7.4% (10.4% in men and 5.2% in women; p<0.01) and the FINDRISC ROC-AUC for UT2DM was 0.72 (95% CI, 0.69-0.74). The optimal cut-off point was ≥13 (sensitivity = 63.8%, specificity = 65.1%). The ROC-AUC of MADRISC was 0.76 (95% CI, 0.72-0.81) with ≥13 as the optimal cut-off point (sensitivity = 84.8%, specificity = 54.6%). FINDRISC score ≥12 for detecting any dysglycaemia offered the best cut-off point when HbA1c alone or OGTT and HbA1c were the criteria used. CONCLUSIONS: FINDRISC proved to be a useful instrument in screening for dysglycaemia and UT2DM. In the screening of UT2DM, the simplified MADRISC performed as well as FINDRISC.

Benchmark calculations for dissipative dynamics of a system coupled to an anharmonic bath with the multiconfiguration time-dependent Hartree method.

In this paper, we present benchmark results for dissipative dynamics of a harmonic oscillator coupled to an anharmonic bath of Morse oscillators. The microscopic Hamiltonian has been chosen so that the anharmonicity can be adjusted as a free parameter, and its effect can be isolated. This leads to a temperature dependent spectral density of the bath, which is studied for ohmic and lorentzian cases. Also, we compare numerically exact multiconfiguration time-dependent Hartree results with approximate solutions using continuous configuration time-dependent self-consistent field and local coherent state approximation.

Effect of the excitation energy on the (HI)2 nonadiabatic photodissociation dynamics.

The effect of the excitation energy on the nonadiabatic photodissociation dynamics of (HI)2 is explored in this work. A wave packet model is applied that simulates the photodissociation process starting from the I*-HI complex left behind after dissociation of the first HI moiety within (HI)2. The probability and product fragment state distributions of the different photodissociation pathways are analyzed in a wide range of excitation energies of the I*-HI absorption spectrum. It is found that the probability of electronically nonadiabatic transitions increases substantially (by a factor larger than two) in the range of excitation energies analyzed. This increase is due to an enhancement of the intensity of the spin-rotation coupling responsible for the nonadiabatic transitions with increasing excitation energy. A remarkably high fraction of bound, highly excited I2 photoproducts, slowly decreasing as the excitation energy increases, is also found over the range of energies studied. The I2 product state distributions show manifestations of rotational interference effects and also of rotational cooling in the case of the I2 state distributions produced upon nonadiabatic transitions. Such effects become more pronounced with increasing energy. Experimental implications of these findings are discussed.

Modeling the (HI)2 photodissociation dynamics through a nonadiabatic wave packet study of the I*-HI complex.

The nonadiabatic photodissociation dynamics of (HI)2 is simulated by applying a wave packet approach which starts from the I*-HI complex (where I* denotes the I(2P1/2) excited electronic state) produced after the photodissociation of the first HI moiety within (HI)2. In the model, two excited electronic potential surfaces corresponding to I*-HI(A 1Pi1) and I-HI(A 1Pi1), which interact through spin-rotation coupling, are considered. The simulations show that upon photodissociation of HI within I*-HI, the dissociating H fragment undergoes intracluster collisions with the I* atom. Some of these collisional events induce an electronically nonadiabatic transition which causes the deactivation of I* to the I ground electronic state. The probability of such nonadiabatic process is found to be 0.37%. Most of the photodissociation process takes place in the upper excited electronic surface [that of the I*-HI(A 1Pi1) complex], where H dissociation is found to be mainly direct or involving weak H/I* intracluster collisions. These weak collisions with high collisional angular momentum, and therefore high collisional impact parameters associated, are responsible for most of the probability of nonadiabatic transitions found. The type of H/I* collisions leading to nonadiabatic transitions appears to be closely related to the nature of the spin-rotation coupling between the two excited electronic states involved.

[Analysis of the investigation activity of the internist from the Public Bid of Employment in Galicia]. / Análisis de la actividad investigadora de los internistas gallegos a partir de los resultados de la oferta pública de empleo.

OBJECTIVES: The aim of the present study was to assess the investigative activity of the internists. Data were collected from the Public Bid of Employment (PBE) performed in Galicia in 2005, and compared with the rest of medical subspecialities. METHODS: The results from the PBE related to internal medicine and medical subspecialities are available in the web page of the Galician Service of Health. The following data were studied: speciality, sex, method of attainment of the specialist degree, thesis, and scores obtained in Galician language exam, professional experience, professional report, postgraduate teaching and published scientific papers. RESULTS: Data from 355 specialists were analyzed: 118 (33.2%) were internists, and 237 (66.8%) were medical subspecialists. There were no differences between internal medicine and the rest of subspecialities in terms of sex, method of attainment of the specialist degree, thesis, and scores obtained in Galician language exam, professional experience and postgraduate teaching. Internists presented fewer scientific papers than subspecialists, even when they were classified according to different levels of professional experience. Degrees obtained by the MIR system were associated with more publications (p < 0.001). The attainment of the job was associated to scores obtained in the professional report, professional experience, and published scientific papers (p < 0.001). The obtaining of the job was associated to the accomplishment of the doctoral thesis in the university teaching hospitals (A Coruña, Santiago y Vigo, p < 0.005). CONCLUSIONS: The investigative activity of the internists in Galicia is inferior to the rest of the medical subspecialists. It seems necessary to stimulate the internists to developing scientific investigation and to improve those skills of the internal medicine residents.

Nonadiabatic photodissociation dynamics in (HI)2 induced by intracluster collisions.

The sequential photodissociation dynamics of (HI)2 is studied by means of a nonadiabatic wave packet treatment starting from the I*-HI complex. The model reproduces the main experimental findings for photolysis with 266 nm radiation. The results confirm that some of the H atoms dissociated from the I*-HI complex deactivate the I* atom through a HI* intracluster collision which induces an I*-->I electronically nonadiabatic transition. As a consequence, these H fragments become very fast by acquiring nearly all the I* excitation energy, equivalent to the I*I spin-orbit splitting. A most interesting result is the high production of bound I2 fragments in highly excited rovibrational states in the photolysis, indicating that the H dissociation is mainly direct.

Enfermedad de neurona motora secundaria a saturnismo / Motor neuron disease secondary to lead poisoning

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Photodissociation dynamics of the Kr-HBr cluster: the effect of the rare gas atom substitution.

The ultraviolet photolysis dynamics of Kr-HBr(v=0) is investigated by means of wave packet calculations, focusing on the fragmentation pathway Kr-HBr+ variant Planck's over 2pi omega-->H+Kr-Br. Photolysis is simulated by starting from two different cluster initial states, namely the ground van der Waals (vdW) and an excited vdW bending state, associated with the Kr-H-Br and Kr-Br-H isomers, respectively. The results show that, for the two initial states of the cluster, the Kr-Br product yield is lower than that of Ar-Br radicals found in previous studies on Ar-HBr photolysis. Despite this decrease, the Kr-Br yield is found to be still rather high, in particular for the initial excited vdW state of Kr-HBr(v=0). In addition, the Kr-Br product state distributions exhibit a remarkably higher excitation (mainly rotational) than the corresponding Ar-Br distributions. The lower yield and higher excitation of Kr-Br as compared to Ar-Br, are attributed to a larger share of the energy available for the radical going to internal excitation in the case of the Kr-Br product. The different partition of the energy available for Kr-Br also causes significant deviations in the photolysis behavior of Kr-HBr when compared to that of Ar-HBr, in the case of the initial excited vdW state of both clusters. A common feature of the photodissociation of Kr-HBr and Ar-HBr is the manifestation of quantum interference effects in the Kr-Br and Ar-Br rotational state distributions, in the form of pronounced structures of supernumerary rotational rainbows.