Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.

Lamb-Shaffer Syndrome (LSS; OMIM #616803; ORPHA #313892; ORPHA #313884) is an infrequent genetic disorder that affects multiple aspects of human development especially those related to the development of the nervous system. LSS is caused by variants in the SOX5 gene. At the molecular level, SOX5 gene encodes for a transcription factor containing a High Mobility Group (HMG) DNA-Binding domain with relevant functions in brain development in different vertebrate species.

F-fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT) predictive score for complete resection in primary cytoreductive surgery.

Objective: To assess the value of preoperative F-fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT) scan, combined with clinical variables, in predicting complete cytoreduction in selected patients with advanced ovarian cancer.

Methods: We carried out a multicenter, observational, retrospective study evaluating patients who underwent primary cytoreductive surgery for advanced ovarian cancer in two Spanish centers between January 2017 and January 2022. Inclusion criteria were histological confirmation of invasive epithelial ovarian carcinoma; preoperative International Federation of Gynecology and Obstetrics (FIGO) stage III or IV; upfront cytoreductive surgery; and F-FDG PET/CT performed 1 month prior to surgery.

Role of correlated noise in textural features extraction.

Predictive models of tumor response based on heterogeneity metrics in medical images, such as textural features, are highly suggestive. However, the demonstrated sensitivity of these features to noise does affect the model being developed. An in-depth analysis of the noise influence on the extraction of texture features was performed based on the assumption that an improvement in information quality can also enhance the predictive model.

The F phantom clinical trials qualification for F-FDG-PET scanning adopted by GELTAMO (Grupo Español de Linfomas/Trasplante Autólogo de Médula Ósea).

Introduction And Objectives: Since different PET/CT (Positron Emission Tomography/Computed Tomography) scanners give different qualitative readings, a program for clinical trial qualification (CTQ) is mandatory to guarantee a reliable and reproducible use of PET/CT in prospective multi-centre clinical trials. Within this work we will show the results carried out in performing CTQ in Spain.

Materials And Methods: We set up, under the auspices of Grupo Español de Linfomas/Trasplante Autólogo de Médula Osea (GELTAMO), a CTQ program consisting of the acquisition and analysis of 18F uniformity and image quality phantoms for the reduction of inter-scanner variability (ISV).

Spanish Lymphoma Group (GELTAMO) guidelines for the diagnosis, staging, treatment, and follow-up of diffuse large B-cell lymphoma.

Diffuse large B-cell lymphoma (DLBCL) accounts for approximately 30% of non-Hodgkin lymphoma (NHL) cases in adult series. DLBCL is characterized by marked clinical and biological heterogeneity, encompassing up to 16 distinct clinicopathological entities. While current treatments are effective in 60% to 70% of patients, those who are resistant to treatment continue to die from this disease.

Thyroid Metastasis as First Manifestation of a Colon Adenocarcinoma With KRAS Mutation: Usefulness of 18F-FDG PET/CT.

The synchronous diagnosis of a thyroid metastasis and of the primary colon adenocarcinoma that produces it is very rare, with only 5 cases reported to date, all of them treated with thyroid surgery showing a mean survival of 7 months. An ¹⁸F-FDG PET/CT in an asymptomatic 74-year-old woman with a thyroid cytology suggestive of malignancy but uncertain about the origin of the tumor revealed an stage IV colon adenocarcinoma with KRAS mutation and multiple metastasis (thyroid, lung, and liver). A prompt therapeutic planning with chemotherapy allowed 21 months of survival.

Body composition analysis and adipocytokine concentrations in haemodialysis patients: abdominal fat gain as an additional cardiovascular risk factor.

Introduction: Abdominal fat and its increment over time in particular has become a cardiovascular risk factor in uraemic patients.

Objectives: To analyse changes in abdominal fat in haemodialysis patients over one year and study their possible correlation with the variation in adipocytokine serum levels. As a secondary objective, we tried to validate the data obtained by bioelectrical impedance analysis (BIA) with data obtained by dual X-ray absorptiometry (DXA).

Report of the 6th International Workshop on PET in lymphoma.

Two hundred and ten nuclear medicine physicians, radiologists, and hematologists from 26 countries attended the 6th International Workshop on Positron Emission Tomography (PET) in Lymphoma and Myeloma held in Menton, France, in September 2016. The meeting was under the auspices of the European Lymphoma Institute (ELI), the European Association of Nuclear Medicine (EANM) the Lymphoma Study Association (LYSA), the Italian Foundation on Lymphoma (FIL) and the Carnot Institute for Lymphoma (CALYM). Forty scientific posters were presented.

Denoising of PET images by context modelling using local neighbourhood correlation.

Positron emission tomography (PET) images are characterised by low signal-to-noise ratio and blurred edges when compared with other image modalities. It is therefore advisable to use noise reduction methods for qualitative and quantitative analyses. Given the importance of the maximum and mean uptake values, it is necessary to avoid signal loss, which could modify the clinical significance.

Intensification treatment based on early FDG-PET in patients with high-risk diffuse large B-cell lymphoma: a phase II GELTAMO trial.

We conducted a multicentre, phase II study of interim positron emission tomography (PET) as a guide to risk-adapted therapy in high-risk patients with newly diagnosed diffuse large B-cell lymphoma (DLBCL). Patients achieving negative fluorodeoxyglucose (FDG)-PET after three courses of R-MegaCHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone) received three additional courses, whereas PET-positive patients received two courses of R-IFE (rituximab, ifosfamide, etoposide) followed by BEAM (BCNU, etoposide, cytarabine, melphalan) and autologous stem-cell transplantation. The primary endpoint was progression-free survival (PFS).

¹⁸F-FDG PET/CT in the diagnosis of occult bacterial infections in children.

Unlabelled: The role of (18)F-fluorodeoxyglucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) in the diagnosis and follow-up of infectious diseases has expanded recently. The aim of this report is to communicate our experience regarding its role in the diagnosis and management of occult bacterial infections in children. We present three pediatric patients with occult bacterial infections and negative conventional studies in whom (18)F-FDG PET/CT had a significant effect on clinical management.

Acute arterial thrombosis in the absence of inflammation: the stress-related anti-inflammatory hormone ACTH participates in platelet-mediated thrombosis.

Objective: Despite the reciprocal relationship that exists between inflammation and thrombosis, we asked whether thrombosis can develop without inflammation, and whether stress-related hormones (ACTH and cortisol) influence platelet-mediated thrombosis.

Methods: We investigated the role of ACTH and cortisol in platelet aggregation, as well as on the circulating levels of IL-6 in pigs subjected to different treatments. In control animals, deep vessel wall injury (DVWI) was induced in the right common carotid artery, while in the animals under study DVWI was induced 60 min after ACTH administration (subgroup 1) or not at all (subgroup 2).

Clinical role of Sm-153 EDTMP in the treatment of painful bone metastatic disease.

Purpose: Sm-153 EDTMP is an effective treatment of painful bone metastases from different neoplasms. However, there are few studies describing clinical experience with this therapeutic modality. The aim of this clinical study was to evaluate the efficacy of Sm-153 EDTMP in a group of patients with skeletal metastases and poor pain control with conventional therapies.

Atherogenesis takes place in cholesterol-fed rabbits when circulating concentrations of endogenous cortisol are increased and inflammation suppressed.

Atherosclerosis is an inflammatory disease, but the response of the endogenous anti-inflammatory system during this process has not been evaluated previously. Cortisol is the end product of this anti-inflammatory system, but is also able to activate cellular processes that induce atherogenesis; however, it is unknown whether atherogenesis occurs when circulating concentrations of endogenous cortisol are increased or when they are decreased. We have evaluated the counter-regulatory responses of cortisol and interleukin-1beta (IL-1beta) during the short- and long-term responses to vascular injury in rabbits fed a 2% cholesterol diet.