Autoimmunologiczny zespół insulinowy – opis przypadku

Not required for Clinical Vignette.Autoimmunologiczny zespół insulinowy to rzadka choroba, która najpowszechniej występuje w populacji azjatyckiej, natomiast poza nią jest spotykana incydentalnie. U jej podłoża leży obecność przeciwciał skierowanych przeciwko endogennej insulinie, tworząc kompleksy i ograniczając jej biologiczne działanie, co w konsekwencji powoduje nadmierne wydzielanie tego hormonu. Co więcej, rozpad kompleksów insulina-przeciwciała prowadzi do uwolnienia bioaktywnej insuliny – co w konsekwencji, klinicznie objawia się hipoglikemią. W artykule opisano przypadek 45-letniej kobiety polskiego pochodzenia, z objawami hipoglikemii od 3 miesięcy, ambulatoryjnie stwierdzanymi stężeniami insuliny przekraczającymi wartość 1000 μIU/ml oraz, pierwotnie, podejrzeniem insulinoma. Badanie tomografii komputerowej jamy brzusznej nie wykazało odchyleń. W toku diagnostyki wykonano 72-godzinny test głodowy i w zakresie stosunku stężeń insuliny do C-peptydu odnotowano cechy typowe dla autoimmunologicznego zespołu insulinowego. Diagnozę potwierdzono w teście precypitacji z 12,5% glikolem polietylenowym. Ze względu na rzadkie występowanie i podobieństwo obrazu klinicznego do innych hipoglikemii hiperinsulinemicznych autoimmunologiczny zespół insulinowy stwarza poważne trudności diagnostyczne. Niemniej, właściwe rozpoznanie jest niezmiernie ważne, gdyż w przeciwnym razie pacjent może być poddany niepotrzebnym, inwazyjnym zabiegom, jak w przypadkach guza insulinowego czy nesidioblastozy

Postępowanie u osób dorosłych z zespołem Pradera-Williego — co endokrynolog wiedzieć powinien. Stanowisko Polskiego Towarzystwa Endokrynologicznego i Polskiego Towarzystwa Endokrynologii i Diabetologii Dziecięcej

Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by a set of phenotypic traits, which include infantile hypotonia, short stature, and morbid obesity. Over the last 12 years, visible progress has been made in medical care management of PWS patients in Poland. Increasing awareness of the disorder in neonatal and paediatric care has led to early identification of the condition in neonates, followed by the institution of an appropriate dietary regime, introduction of physiotherapy, and early-onset recombinant human growth hormone (rhGH) treatment. Growth hormone (GH) therapy in Poland is conducted within the nationwide framework of the Therapeutic Programme: “Treatment of Prader-Willi Syndrome”. The therapeutic interventions initiated in the paediatric centres need to be continued in multidisciplinary adult care settings. The main aim of PWS clinical management in adulthood is prevention of obesity and its comor­bidities, treatment of hormonal disorders, mental health stabilisation, nutritional guidance, as well as on-going physiotherapy. Integrated multidisciplinary therapeutic intervention is necessary if patients with such a complex genetic condition as PWS are to not only achieve an average life expectancy but also to enjoy higher quality of life.Zespół Pradera-Williego (PWS) jest chorobą uwarunkowaną genetycznie, której cechami charakterystycznymi są występująca w wieku niemowlęcym hipotonia i specyficzny obraz fenotypowy, a następnie narastająca otyłość i niskorosłość. W ostatnich 20 latach w Polsce zauważalny jest istotny postęp w opiece nad pacjentami z PWS. Dzięki zwiększeniu świadomości lekarzy w ośrodkach noworodkowych i pediatrycznych zaburzenie to może zostać rozpoznane już w okresie noworodkowym, co pozwala włączyć odpowiednie postępowanie dietetyczne i rehabilitację, a także wcześnie rozpocząć farmakoterapię rekombinowanym ludzkim hormonem wzrostu. Terapia hormonem wzrostu prowadzona jest w Polsce w ramach programu „Leczenie zespołu Prader-Willi”. Leczenie rozpoczęte w ośrodkach pediatrycznych należy kontynuować w wielospecjalistycznych ośrodkach dla dorosłych. Głównym celem leczenia dorosłych pacjen­tów z PWS jest zapobieganie otyłości i jej powikłaniom, a także wyrównanie zaburzeń hormonalnych, stabilizacja stanu psychicznego, odpowiednie postępowanie dietetyczne i stałe leczenie rehabilitacyjne. Tylko dzięki terapii zintegrowanej jest szansa, aby pacjenci z tą poważną, uwarunkowaną genetycznie chorobą mogli nie tylko żyć tak długo jak inni, ale aby jakość ich życia była lepsza

Neutral pion and η meson production at mid-rapidity in Pb–Pb collisions at √sNN = 2.76 TeV

Neutral pion and η meson production in the transverse momentum range 1 < pT < 20 GeV/c have been measured at mid-rapidity by the ALICE experiment at the Large Hadron Collider (LHC) in central and semi-central Pb-Pb collisions at sNN−−−−√ = 2.76 TeV. These results were obtained using the photon conversion method as well as the PHOS and EMCal detectors. The results extend the upper pT reach of the previous ALICE π0 measurements from 12 GeV/c to 20 GeV/c and present the first measurement of η meson production in heavy-ion collisions at the LHC. The η/π0 ratio is similar for the two centralities and reaches at high pT a plateau value of 0.457 ± 0.013stat ± 0.018syst. A suppression of similar magnitude for π0 and η meson production is observed in Pb-Pb collisions with respect to their production in pp collisions scaled by the number of binary nucleon-nucleon collisions. We discuss the results in terms of NLO pQCD predictions and hydrodynamic models. The measurements show a stronger suppression with respect to what was observed at lower center-of-mass energies in the pT range 6 < pT < 10 GeV/c. At pT < 3 GeV/c, hadronization models describe the π0 results while for the η some tension is observed

Λ+c production in pp collisions at √s = 7 TeV and in p–Pb collisions at √sNN = 5.02 TeV

The pT-differential production cross section of prompt Λ+c charmed baryons was measured with the ALICE detector at the Large Hadron Collider (LHC) in pp collisions at s√=7 TeV and in p-Pb collisions at sNN−−−√=5.02 TeV at midrapidity. The Λ+c and Λ¯¯¯¯−c were reconstructed in the hadronic decay modes Λ+c→pK−π+, Λ+c→pK0S and in the semileptonic channel Λ+c→e+νeΛ (and charge conjugates). The measured values of the Λ+c/D0 ratio, which is sensitive to the c-quark hadronisation mechanism, and in particular to the production of baryons, are presented and are larger than those measured previously in different colliding systems, centre-of-mass energies, rapidity and pT intervals, where the Λ+c production process may differ. The results are compared with the expectations obtained from perturbative Quantum Chromodynamics calculations and Monte Carlo event generators. Neither perturbative QCD calculations nor Monte Carlo models reproduce the data, indicating that the fragmentation of heavy-flavour baryons is not well understood. The first measurement at the LHC of the Λ+c nuclear modification factor, RpPb, is also presented. The RpPb is found to be consistent with unity and with that of D mesons within the uncertainties, and consistent with a theoretical calculation that includes cold nuclear matter effects and a calculation that includes charm quark interactions with a deconfined medium

φ meson production at forward rapidity in Pb–Pb collisions at √sNN = 2.76 TeV

ϕ meson measurements provide insight into strangeness production, which is one of the key observables for the hot medium formed in high-energy heavy-ion collisions. ALICE measured ϕ production through its decay in muon pairs in Pb-Pb collisions at sNN−−−√ = 2.76 TeV in the intermediate transverse momentum range 2<pT<5 GeV/c and in the rapidity interval 2.5<y<4. The ϕ yield was measured as a function of the transverse momentum and collision centrality. The nuclear modification factor was obtained as a function of the average number of participating nucleons. Results were compared with the ones obtained via the kaon decay channel in the same pT range at midrapidity. The values of the nuclear modification factor in the two rapidity regions are in agreement within uncertainties

Suppression of Λ(1520) resonance production in central Pb–Pb collisions at √sNN = 2.76 TeV

The production yield of the Λ(1520) baryon resonance is measured at mid-rapidity in Pb-Pb collisions at sNN−−−√ = 2.76 TeV with the ALICE detector at the LHC. The measurement is performed in the Λ(1520)→pK− (and charge conjugate) hadronic decay channel as a function of the transverse momentum (pT) and collision centrality. The pT-integrated production rate of Λ(1520) relative to Λ in central collisions is suppressed by about a factor of 2 with respect to peripheral collisions. This is the first observation of the suppression of a baryonic resonance at the LHC and the first 3σ evidence of Λ(1520) suppression within a single collision system. The measured Λ(1520)/Λ ratio in central collisions is smaller than the value predicted by the statistical hadronisation model calculations. The shape of the measured pT distribution and the centrality dependence of the suppression are reproduced by the EPOS3 Monte Carlo event generator. The measurement adds further support to the formation of a dense hadronic phase in the final stages of the evolution of the fireball created in heavy-ion collisions, lasting long enough to cause a significant reduction in the observable yield of short-lived resonances

Suppression of Λ(1520) resonance production in central Pb–Pb collisions at √sNN = 2.76 TeV

The production yield of the Λ(1520) baryon resonance is measured at mid-rapidity in Pb-Pb collisions at sNN−−−√ = 2.76 TeV with the ALICE detector at the LHC. The measurement is performed in the Λ(1520)→pK− (and charge conjugate) hadronic decay channel as a function of the transverse momentum (pT) and collision centrality. The pT-integrated production rate of Λ(1520) relative to Λ in central collisions is suppressed by about a factor of 2 with respect to peripheral collisions. This is the first observation of the suppression of a baryonic resonance at LHC and the first evidence of Λ(1520) suppression in heavy-ion collisions. The measured Λ(1520)/Λ ratio in central collisions is smaller than the value predicted by the statistical hadronisation model calculations. The shape of the measured pT distribution and the centrality dependence of the suppression are reproduced by the EPOS3 Monte Carlo event generator. The measurement adds further support to the formation of a dense hadronic phase in the final stages of the evolution of the fireball created in heavy-ion collisions, lasting long enough to cause a significant reduction in the observable yield of short-lived resonances

Measurement of the production cross section of prompt Ξ0c baryons in p–Pb collisions at √sNN = 5.02 TeV

The transverse momentum (pT) differential production cross section of the promptly-produced charm-strange baryon Ξ0c (and its charge conjugate Ξ0c¯¯¯¯¯¯) is measured at midrapidity via its hadronic decay into π+Ξ− in p−Pb collisions at a centre-of-mass energy per nucleon−nucleon collision sNN−−−√ = 5.02 TeV with the ALICE detector at the LHC. The Ξ0c nuclear modification factor (RpPb), calculated from the cross sections in pp and p−Pb collisions, is presented and compared with the RpPb of Λ+c baryons. The ratios between the pT-differential production cross section of Ξ0c baryons and those of D0 mesons and Λ+c baryons are also reported and compared with results at forward and backward rapidity from the LHCb Collaboration. The measurements of the production cross section of prompt Ξ0c baryons are compared with a model based on perturbative QCD calculations of charm-quark production cross sections, which includes only cold nuclear matter effects in p−Pb collisions, and underestimates the measurement by a factor of about 50. This discrepancy is reduced when the data is compared with a model in which hadronisation is implemented via quark coalescence. The pT-integrated cross section of prompt Ξ0c-baryon production at midrapidity extrapolated down to pT = 0 is also reported. These measurements offer insights and constraints for theoretical calculations of the hadronisation process. Additionally, they provide inputs for the calculation of the charm production cross section in p−Pb collisions at midrapidity

Measurement of Ω0c baryon production and branching-fraction ratio BR(Ω0c → Ω−e+νe)/BR(Ω0c → Ω−π+) in pp collisions at √s = 13 TeV

The inclusive production of the charm-strange baryon Ω0c is measured for the first time via its semileptonic decay into Ω−e+νe at midrapidity (|y| < 0.8) in proton–proton (pp) collisions at the centre-of-mass energy √s = 13 TeV with the ALICE detector at the LHC. The transverse momentum (pT) differential cross section multiplied by the branching ratio is presented in the interval 2 < pT < 12 GeV/c. The branching-fraction ratio BR(Ω0c → Ω−e+νe)/BR(Ω0c → Ω−π+) is measured to be 1.12 ± 0.22 (stat.) ± 0.27 (syst.). Comparisons with other experimental measurements, as well as with theoretical calculations, are presented