Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD)

Las anomalías de la diferenciación sexual (ADS) engloban un amplio espectro de discordancias entre los criterios cromosómico, gonadal y fenotípico (genital) que definen la diferenciación sexual; actualmente, se aboga por la denominación de «desarrollo sexual diferente» (DSD). Su origen es congénito; se clasifican en función de los cromosomas sexuales presentes en el cariotipo; las causas genéticas conocidas son muy diversas y heterogéneas, aunque algunos casos pueden ser secundarios a factores maternos o medioambientales. Su diagnóstico y tratamiento requieren siempre una atención médica y psicosocial multidisciplinar. El diagnóstico etiológico precisa la interacción entre las exploraciones clínicas, bioquímicas (hormonales), genéticas, de imagen y, eventualmente, quirúrgicas. El tratamiento debe abordar la asignación de género, la posible necesidad de tratamiento hormonal substitutivo (suprarrenal si hay insuficiencia suprarrenal y con esteroides sexuales si hay insuficiencia gonadal a partir de la edad puberal), la necesidad de intervenciones quirúrgicas sobre las estructuras genitales (actualmente se tiende a diferirlas) y/o sobre las gónadas (en función de los riesgos de malignización), la necesidad de apoyo psicosocial y, finalmente, una adecuada programación de la transición a la atención médica en las especialidades de adultos. Las asociaciones de personas afectadas tienen un papel fundamental en el apoyo a familias y la interacción con los medios profesionales y sociales. La utilización de Registros y la colaboración entre profesionales en Grupos de Trabajo de sociedades médicas nacionales e internacionales es fundamental para avanzar en mejorar los medios diagnósticos y terapéuticos que precisan los DSD.Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD

Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD)

Las anomalías de la diferenciación sexual (ADS) engloban un amplio espectro de discordancias entre los criterios cromosómico, gonadal y fenotípico (genital) que definen la diferenciación sexual; actualmente, se aboga por la denominación de «desarrollo sexual diferente» (DSD). Su origen es congénito; se clasifican en función de los cromosomas sexuales presentes en el cariotipo; las causas genéticas conocidas son muy diversas y heterogéneas, aunque algunos casos pueden ser secundarios a factores maternos o medioambientales. Su diagnóstico y tratamiento requieren siempre una atención médica y psicosocial multidisciplinar. El diagnóstico etiológico precisa la interacción entre las exploraciones clínicas, bioquímicas (hormonales), genéticas, de imagen y, eventualmente, quirúrgicas. El tratamiento debe abordar la asignación de género, la posible necesidad de tratamiento hormonal substitutivo (suprarrenal si hay insuficiencia suprarrenal y con esteroides sexuales si hay insuficiencia gonadal a partir de la edad puberal), la necesidad de intervenciones quirúrgicas sobre las estructuras genitales (actualmente se tiende a diferirlas) y/o sobre las gónadas (en función de los riesgos de malignización), la necesidad de apoyo psicosocial y, finalmente, una adecuada programación de la transición a la atención médica en las especialidades de adultos. Las asociaciones de personas afectadas tienen un papel fundamental en el apoyo a familias y la interacción con los medios profesionales y sociales. La utilización de Registros y la colaboración entre profesionales en Grupos de Trabajo de sociedades médicas nacionales e internacionales es fundamental para avanzar en mejorar los medios diagnósticos y terapéuticos que precisan los DSD.Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD

Development of the CMS detector for the CERN LHC Run 3

International audienceSince the initial data taking of the CERN LHC, the CMS experiment has undergone substantial upgrades and improvements. This paper discusses the CMS detector as it is configured for the third data-taking period of the CERN LHC, Run 3, which started in 2022. The entire silicon pixel tracking detector was replaced. A new powering system for the superconducting solenoid was installed. The electronics of the hadron calorimeter was upgraded. All the muon electronic systems were upgraded, and new muon detector stations were added, including a gas electron multiplier detector. The precision proton spectrometer was upgraded. The dedicated luminosity detectors and the beam loss monitor were refurbished. Substantial improvements to the trigger, data acquisition, software, and computing systems were also implemented, including a new hybrid CPU/GPU farm for the high-level trigger

Development of the CMS detector for the CERN LHC Run 3

Since the initial data taking of the CERN LHC, the CMS experiment has undergone substantial upgrades and improvements. This paper discusses the CMS detector as it is configured for the third data-taking period of the CERN LHC, Run 3, which started in 2022. The entire silicon pixel tracking detector was replaced. A new powering system for the superconducting solenoid was installed. The electronics of the hadron calorimeter was upgraded. All the muon electronic systems were upgraded, and new muon detector stations were added, including a gas electron multiplier detector. The precision proton spectrometer was upgraded. The dedicated luminosity detectors and the beam loss monitor were refurbished. Substantial improvements to the trigger, data acquisition, software, and computing systems were also implemented, including a new hybrid CPU/GPU farm for the high-level trigger.Since the initial data taking of the CERN LHC, the CMS experiment has undergone substantial upgrades and improvements. This paper discusses the CMS detector as it is configured for the third data-taking period of the CERN LHC, Run 3, which started in 2022. The entire silicon pixel tracking detector was replaced. A new powering system for the superconducting solenoid was installed. The electronics of the hadron calorimeter was upgraded. All the muon electronic systems were upgraded, and new muon detector stations were added, including a gas electron multiplier detector. The precision proton spectrometer was upgraded. The dedicated luminosity detectors and the beam loss monitor were refurbished. Substantial improvements to the trigger, data acquisition, software, and computing systems were also implemented, including a new hybrid CPU/GPU farm for the high-level trigger

Bottom quark energy loss and hadronization with B+^+ and Bs0^0_\mathrm{s} nuclear modification factors using pp and \PbPb collisions at sNN\sqrt{s_\mathrm{NN}} = 5.02 TeV

International audienceThe production cross sections of B$^0_\mathrm{s}$ and B$^+$ mesons are reported in proton-proton (pp) collisions recorded by the CMS experiment at the CERN LHC with a center-of-mass energy of 5.02 TeV. The data sample corresponds to an integrated luminosity of 302 pb$^{-1}$. The cross sections are based on measurements of the B$^0_\mathrm{s}$$\to$ J/$\psi(\mu^+\mu^-)\phi$(1020)(K$^+$K$^-$) and B$^+$$\to$ J/$\psi(\mu^+\mu^-)$K$^+$ decay channels. Results are presented in the transverse momentum ($p_\mathrm{T}$) range 7-50 GeV/$c$ and the rapidity interval $\lvert y \rvert$$\lt$ 2.4 for the B mesons. The measured $p_\mathrm{T}$-differential cross sections of B$^+$ and B$^0_\mathrm{s}$ in pp collisions are well described by fixed-order plus next-to-leading logarithm perturbative quantum chromodynamics calculations. Using previous PbPb collision measurements at the same nucleon-nucleon center-of-mass energy, the nuclear modification factors, $R_\mathrm{AA}$, of the B mesons are determined. For $p_\mathrm{T}$$\lt$ 10 GeV/$c$, both mesons are found to be suppressed in PbPb collisions (with $R_\mathrm{AA}$ values significantly below unity), with less suppression observed for the B$^0_\mathrm{s}$ mesons. In this $p_\mathrm{T}$ range, the $R_\mathrm{AA}$ values for the B$^+$ mesons are consistent with those for inclusive charged hadrons and D$^0$ mesons. Below 10 GeV/$c$, both B$^+$ and B$^0_\mathrm{s}$s are found to be less suppressed than either inclusive charged hadrons or D$^0$ mesons, with the B$^0_\mathrm{s}$$R_\mathrm{AA}$ value consistent with unity. The $R_\mathrm{AA}$ values found for the B$^+$ and B$^0_\mathrm{s}$ are compared to theoretical calculations, providing constraints on the mechanism of bottom quark energy loss and hadronization in the quark-gluon plasma, the hot and dense matter created in ultrarelativistic heavy ion collisions

Development of the CMS detector for the CERN LHC Run 3

International audienceSince the initial data taking of the CERN LHC, the CMS experiment has undergone substantial upgrades and improvements. This paper discusses the CMS detector as it is configured for the third data-taking period of the CERN LHC, Run 3, which started in 2022. The entire silicon pixel tracking detector was replaced. A new powering system for the superconducting solenoid was installed. The electronics of the hadron calorimeter was upgraded. All the muon electronic systems were upgraded, and new muon detector stations were added, including a gas electron multiplier detector. The precision proton spectrometer was upgraded. The dedicated luminosity detectors and the beam loss monitor were refurbished. Substantial improvements to the trigger, data acquisition, software, and computing systems were also implemented, including a new hybrid CPU/GPU farm for the high-level trigger

Bottom quark energy loss and hadronization with B+^+ and Bs0^0_\mathrm{s} nuclear modification factors using pp and \PbPb collisions at sNN\sqrt{s_\mathrm{NN}} = 5.02 TeV

International audienceThe production cross sections of B$^0_\mathrm{s}$ and B$^+$ mesons are reported in proton-proton (pp) collisions recorded by the CMS experiment at the CERN LHC with a center-of-mass energy of 5.02 TeV. The data sample corresponds to an integrated luminosity of 302 pb$^{-1}$. The cross sections are based on measurements of the B$^0_\mathrm{s}$$\to$ J/$\psi(\mu^+\mu^-)\phi$(1020)(K$^+$K$^-$) and B$^+$$\to$ J/$\psi(\mu^+\mu^-)$K$^+$ decay channels. Results are presented in the transverse momentum ($p_\mathrm{T}$) range 7-50 GeV/$c$ and the rapidity interval $\lvert y \rvert$$\lt$ 2.4 for the B mesons. The measured $p_\mathrm{T}$-differential cross sections of B$^+$ and B$^0_\mathrm{s}$ in pp collisions are well described by fixed-order plus next-to-leading logarithm perturbative quantum chromodynamics calculations. Using previous PbPb collision measurements at the same nucleon-nucleon center-of-mass energy, the nuclear modification factors, $R_\mathrm{AA}$, of the B mesons are determined. For $p_\mathrm{T}$$\lt$ 10 GeV/$c$, both mesons are found to be suppressed in PbPb collisions (with $R_\mathrm{AA}$ values significantly below unity), with less suppression observed for the B$^0_\mathrm{s}$ mesons. In this $p_\mathrm{T}$ range, the $R_\mathrm{AA}$ values for the B$^+$ mesons are consistent with those for inclusive charged hadrons and D$^0$ mesons. Below 10 GeV/$c$, both B$^+$ and B$^0_\mathrm{s}$s are found to be less suppressed than either inclusive charged hadrons or D$^0$ mesons, with the B$^0_\mathrm{s}$$R_\mathrm{AA}$ value consistent with unity. The $R_\mathrm{AA}$ values found for the B$^+$ and B$^0_\mathrm{s}$ are compared to theoretical calculations, providing constraints on the mechanism of bottom quark energy loss and hadronization in the quark-gluon plasma, the hot and dense matter created in ultrarelativistic heavy ion collisions

Searches for Higgs boson production through decays of heavy resonances

The discovery of the Higgs boson has led to new possible signatures for heavy resonance searches at the LHC. Since then, search channels including at least one Higgs boson plus another particle have formed an important part of the program of new physics searches. In this report, the status of these searches by the CMS Collaboration is reviewed. Searches are discussed for resonances decaying to two Higgs bosons, a Higgs and a vector boson, or a Higgs boson and another new resonance, with proton-proton collision data collected at $\sqrt{s}=$ 13 TeV in the years 2016-2018. A combination of the results of these searches is presented together with constraints on different beyond-the-standard model scenarios, including scenarios with extended Higgs sectors, heavy vector bosons and extra dimensions. Studies are shown for the first time by CMS on the validity of the narrow-width approximation in searches for the resonant production of a pair of Higgs bosons. The potential for a discovery at the High Luminosity LHC is also discussed.The discovery of the Higgs boson has led to new possible signatures for heavy resonance searches at the LHC. Since then, search channels including at least one Higgs boson plus another particle have formed an important part of the program of new physics searches. In this report, the status of these searches by the CMS Collaboration is reviewed. Searches are discussed for resonances decaying to two Higgs bosons, a Higgs and a vector boson, or a Higgs boson and another new resonance, with proton-proton collision data collected at $\sqrt{s}$ = 13 TeV in the years 2016-2018. A combination of the results of these searches is presented together with constraints on different beyond-the-standard model scenarios, including scenarios with extended Higgs sectors, heavy vector bosons and extra dimensions. Studies are shown for the first time by CMS on the validity of the narrow-width approximation in searches for the resonant production of a pair of Higgs bosons. The potential for a discovery at the High Luminosity LHC is also discussed

Searches for Higgs boson production through decays of heavy resonances

International audienceThe discovery of the Higgs boson has led to new possible signatures for heavy resonance searches at the LHC. Since then, search channels including at least one Higgs boson plus another particle have formed an important part of the program of new physics searches. In this report, the status of these searches by the CMS Collaboration is reviewed. Searches are discussed for resonances decaying to two Higgs bosons, a Higgs and a vector boson, or a Higgs boson and another new resonance, with proton-proton collision data collected at $\sqrt{s}$ = 13 TeV in the years 2016-2018. A combination of the results of these searches is presented together with constraints on different beyond-the-standard model scenarios, including scenarios with extended Higgs sectors, heavy vector bosons and extra dimensions. Studies are shown for the first time by CMS on the validity of the narrow-width approximation in searches for the resonant production of a pair of Higgs bosons. The potential for a discovery at the High Luminosity LHC is also discussed

Searches for Higgs boson production through decays of heavy resonances

International audienceThe discovery of the Higgs boson has led to new possible signatures for heavy resonance searches at the LHC. Since then, search channels including at least one Higgs boson plus another particle have formed an important part of the program of new physics searches. In this report, the status of these searches by the CMS Collaboration is reviewed. Searches are discussed for resonances decaying to two Higgs bosons, a Higgs and a vector boson, or a Higgs boson and another new resonance, with proton-proton collision data collected at $\sqrt{s}$ = 13 TeV in the years 2016-2018. A combination of the results of these searches is presented together with constraints on different beyond-the-standard model scenarios, including scenarios with extended Higgs sectors, heavy vector bosons and extra dimensions. Studies are shown for the first time by CMS on the validity of the narrow-width approximation in searches for the resonant production of a pair of Higgs bosons. The potential for a discovery at the High Luminosity LHC is also discussed