NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting, dehydration, and elevated transaminases. They had frequent infections, hypogammaglobulinemia, reduced natural killer cells, and the Pelger-Huët anomaly of their granulocytes. Their facial features were similar with a pointed chin and proptosis; loose skin and reduced subcutaneous fat gave them a progeroid appearance. Skeletal features included short stature, slender bones, epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses, and small C1-C2 vertebrae causing cervical instability and myelopathy. Retinal dystrophy and optic atrophy were present in one patient. NBAS is a component of the synthaxin-18 complex and is involved in nonsense-mediated mRNA decay control. Putative loss-of-function mutations in NBAS are already known to cause disease in humans. A specific founder mutation has been associated with short stature, optic nerve atrophy and Pelger-Huët anomaly of granulocytes (SOPH) in the Siberian Yakut population. A more recent report associates NBAS mutations with recurrent acute liver failure in infancy in a group of patients of European descent. Our observations indicate that the phenotypic spectrum of NBAS deficiency is wider than previously known and includes skeletal, hepatic, metabolic, and immunologic aspects. Early recognition of the skeletal phenotype is important for preventive management of cervical instability. © 2015 Wiley Periodicals, Inc.

Référentiel de pratiques professionnelles: soins et surveillance des accès veineux centraux de l'adulte pour la nutrition parentérale [Formative assessment in clinical nutrition: Care management of parenteral nutrition central venous access]

Les voies veineuses centrales (VVC) sont essentielles pour l'administration de la nutrition parentérale. Le risque de complications est dépendant de la qualité des soins apportés à la VVC qui influence de ce fait la qualité de vie des patients et le coût des soins. Beaucoup de complications des VVC, infectieuses ou non, peuvent être prévenues par l'existence de protocoles de soins appropriés et standardisés. L'information sur les soins des VVC et les éventuelles complications est essentielle pour le dépistage et le traitement précoce de ces complications ; elle doit faire l'objet de protocoles partagés entre les patients et les soignants. Cet article décrit une évaluation des pratiques professionnelles sous la forme d'un audit clinique destiné à améliorer la qualité de soins des patients en nutrition parentérale porteurs de VVC. Central venous access devices (CVAD) are essential for the administration of parenteral nutrition. The quality of the care of CVAD influences the risk of complications and so the quality of life of the patients and the costs of care. Numerous infectious or non-infectious complications of CVAD can be prevented by appropriate, standardized protocols of care. Information about the care of CVAD and complications is essential for the early recognition and treatment of complications and should be shared between patients and caregivers. This article describes an audit for CAVD care that can be used to improve quality of care in a professional practice evaluation program.

Use of the nutritional risk score by surgeons and nutritionists.

BACKGROUND: The Nutritional Risk Score (NRS) is a validated tool to identify patients who should benefit of nutritional interventions. Nutritional screening however has not yet been widely adopted by surgeons. Furthermore, the question about reliability of nutritional assessment performed by surgeons is still unanswered. METHODS: Data was obtained from a recent randomised trial including 146 patients with an NRS ≥3 as assessed by the surgeons. Additional detailed nutritional assessment was performed for all patients by nutritional specialists and entered prospectively in a dedicated database. In this retrospective, surgeons' scoring of NRS and its components was compared to the assessment by nutritionists (considered as gold standard). RESULTS: Prospective NRS scores by surgeons and nutritionists were available for 141 patients (97%). Surgeons calculated a NRS of 7, 6, 5, 4 and 3 in 2, 8, 38, 21 and 72 patients respectively. Nutritionists calculated a NRS of 6, 5, 4, 3 and 2 in 8, 26, 47, 57, 3 patients, respectively. Surgeons' assessment was entirely correct in 56 patients (40%), while at least the final score was consistent in 63 patients (45%). Surgeons overrated the NRS in 21% of patients and underestimated the score in 29%. Evaluation of the nutritional status showed most of the discrepancies (54%). CONCLUSION: Surgeon's assessment of nutritional status is modest at best. Close collaboration with nutritional specialists should be recommended in order to avoid misdiagnosis and under-treatment of patients at nutritional risk.

Prognostic value of baseline total metabolic tumor volume (TMTV0) measured on FDG-PET/CT in patients with peripheral T-cell lymphoma (PTCL).

BACKGROUND: Most peripheral T-cell lymphoma (PTCL) patients have a poor outcome and the identification of prognostic factors at diagnosis is needed. PATIENTS AND METHODS: The prognostic impact of total metabolic tumor volume (TMTV0), measured on baseline [(18)F]2-fluoro-2-deoxy-d-glucose positron emission tomography/computed tomography, was evaluated in a retrospective study including 108 PTCL patients (27 PTCL not otherwise specified, 43 angioimmunoblastic T-cell lymphomas and 38 anaplastic large-cell lymphomas). All received anthracycline-based chemotherapy. TMTV0 was computed with the 41% maximum standardized uptake value threshold method and an optimal cut-off point for binary outcomes was determined and compared with others prognostic factors. RESULTS: With a median follow-up of 23 months, 2-year progression-free survival (PFS) was 49% and 2-year overall survival (OS) was 67%. High TMTV0 was significantly associated with a worse prognosis. At 2 years, PFS was 26% in patients with a high TMTV0 (>230 cm(3), n = 53) versus 71% for those with a low TMTV0, [P < 0.0001, hazard ratio (HR) = 4], whereas OS was 50% versus 80%, respectively, (P = 0.0005, HR = 3.1). In multivariate analysis, TMTV0 was the only significant independent parameter for both PFS and OS. TMTV0, combined with PIT, discriminated even better than TMTV0 alone, patients with an adverse outcome (TMTV0 >230 cm(3) and PIT >1, n = 33,) from those with good prognosis (TMTV0 ≤230 cm(3) and PIT ≤1, n = 40): 19% versus 73% 2-year PFS (P < 0.0001) and 43% versus 81% 2-year OS, respectively (P = 0.0002). Thirty-one patients (other TMTV0-PIT combinations) had an intermediate outcome, 50% 2-year PFS and 68% 2-year OS. CONCLUSION: TMTV0 appears as an independent predictor of PTCL outcome. Combined with PIT, it could identify different risk categories at diagnosis and warrants further validation as a prognostic marker.

Parentesco, redes familiares y sociabilidad en el mundo hispanoamericano en los siglos XVII y XIX

Hasta hace algunos años, el interés por la historia de la familia, aunque no era escaso, estaba orientado a enfoques de tipo macrohistórico, ya que el énfasis estaba puesto en las estructuras de la sociedad. La dominación de los planteamientos cuantitativistas impuestos por los Annales, así como la fuerte influencia del marxismo, coadyuvaron en la consideración de la familia, no como objeto de investigación en sí misma, sino como expresión o ilustración de un funcionamiento económico social global. Los numerosos y excelentes trabajos sobre la élite colonial americana ejemplifican esta clase de acercamiento, fundamentado a partir de una reflexión acerca de los grupos sociales definidos en base a criterios socio-económicos. De la misma marreta, si la familia servia de base a los estudios de demografía histórica,lo que se pretendía a través de ella era la deconstrucción de modelos de comportamiento demográfico para un espacio definido. Fuera de estos planteos con sesgos estructuralistas y funcionalistas, la historia de la familia fue el refugio de la historiografia más tradicional y a veces rancia, fundada muchas veces en la aplicación de la reconstrucción genealógica como único método de estudio de los sectotes sociales más poderosos a nivel económico o político.

Parentesco, redes familiares y sociabilidad en el mundo hispanoamericano en los siglos XVIII y XIX

Hasta hace algunos años, el interés por la historia de la familia, aunque no era escaso, estaba orientado a enfoques de tipo macrohistórico, ya que el énfasis estaba puesto en las estructuras de la sociedad. La dominación de los planteamientos cuantitativistas impuestos por los Annales, así como la fuerte influencia del marxismo, coadyuvaron en la consideración de la familia, fio como objeto de investigación en sí misma, sino como expresión o ilustración de un funcionamiento económico social global.

O experimento de Clement-Desormes no século XXI

The Clement-Desormes experiment is reviewed. By reason of a finite difference between the pressure within the system and its surroundings, Bertrand and McDonald have criticized the usual consideration of the adiabatic expansion as reversible. Garland, Nibler and Shoemaker oppose, defining regions through virtual boundaries where the surroundings do not operate. For Holden, the use of virtual boundaries is expendable. Experiments cannot support a hypothesis testing due to experiment's intrinsic uncertainty. The role of polytropy in uncertainty is discussed. Both thermodynamic definitions and kinetic model depict the real processes as irreversible phenomena and the reversible ones as a limiting hypothetical case.