Permanent neonatal diabetes due to a novel insulin signal peptide mutation

We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51‐month‐old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo mutation. The non‐conservative change substitutes the highly conserved L¹³ residue within the hydrophobic core region of the preproinsulin signal peptide. Given the frequent tendency of heterozygous INS mutations to exhibit dominant negative disease pathogenesis, it is likely that the mutant preproinsulin perturbed the non‐mutant counterpart progression and processing within the β‐cells, and this resulted to a permanent form of congenital diabetes.     

GERICO-03 phase II trial of accelerated and partial breast irradiation in elderly women: Feasibility,reproducibility, and impact on functional status

PurposeTo analyze the feasibility, reproducibility, and impact on functional status of postoperative accelerated and partial breast irradiation (APBI) using interstitial high-dose rate-brachytherapy in women older than 70 years.Methods and MaterialsFrom July 2004 to April 2008, 46 patients were screened for enrollment in a nationwide prospective Phase II trial. A total of 40 patients were eligible according to the inclusion criteria (aged >70 years, T1–2 <30 mm, and pN0). The total delivered dose was 34 Gy of 10 fractions for 5 days. Feasibility and reproducibility were evaluated using a Quality Index (QI) defined as (V₁₀₀% ? clinical target volume)/V₁₀₀%. Skin toxicity was reported using Common Terminology Criteria for Adverse Events version 3.0. ABPI impact on functional dependence was evaluated using the Activity of Daily Living and Instrumental Activity of Daily Living scales. Reproducibility and feasibility were assessed with the optimal two-stage design of Simon.ResultsMedian age was 74 years (70–87 years). All patients were treated according to the protocol. Median Quality Index calculated for the 40 eligible patients was 13.3% (1–70%). It was considered acceptable, partially acceptable, and nonacceptable in 10, 28, and 2 patients, respectively. Within 12 months after APBI, overall rates of toxicity were 59%, 28%, and 2% for Grade 1, 2, and 3 events, respectively. Twelve months after APBI, 35 patients (87%) achieved excellent/good cosmetic result. Compared with baseline values, Activity of Daily Living and Instrumental Activity of Daily Living scores remained unchanged 6 and 12 months after APBI.ConclusionsAPBI by means of high-dose rate-brachytherapy is a feasible/reproducible technique without significant impact on functional dependence in the treatment of elderly women with early breast cancer.     

Facilitators and Barriers to Implementing Healthy School Canteen Intervention among Malaysian Adolescents: A Qualitative Study

This study evaluated implementing a school-based intervention to promote healthier dietary habits in the school environment among Malaysian adolescents using qualitative methods. This qualitative study was conducted in four secondary schools in Perak and Selangor (two urban and two rural schools) that received the intervention (either training or training and food subsidy). A total of eight focus groups (68 students aged 15 years old) and 16 in-depth interviews were conducted with canteen operators, school convenience shop operators, school teachers and school principals in each school. Thematic analysis was used to analyse the qualitative data to identify suitable themes. We found several initiatives and changes by the schools’ stakeholders to change to a healthy school canteen programme. The stakeholders also noticed the students’ food preferences that influence healthy food intake in canteens and convenience shops. The food vendors and school administrators also found that subsidising healthy meals might encourage healthy eating. Among barriers to implementing healthy school initiatives were the student’s perception of healthy food and their eating habits, which also affect the food vendors’ profit if they want to implement a healthy canteen. The school-based intervention has the potential to promotes healthier eating among school adolescents. Continuous training and monitoring of canteen operators and convenience shops are needed, including building partnerships and educating the students on healthy eating to cultivate healthy eating habits.     

Outcome Evaluation on Impact of the Nutrition Intervention among Adolescents: A Feasibility,Randomised Control Study from Myheart Beat (Malaysian Health and Adolescents Longitudinal Research Team—Behavioural Epidemiology and Trial)

A healthy eating environment in the school setting is crucial to nurture the healthy eating pattern for youth. Thus, it helps to combat the obesity issue. However, the impact of healthy school environment on healthy eating habits among Asian adolescents is scarce and less clear. This clustered randomised-control study has two objectives. The first objective was to evaluate the changes in adolescents’ dietary intake after the interventions for all arms (control; healthy cooking training only; subsidization with healthy cooking training). The second objective was to compare the effect of subsidization with healthy cooking training and healthy cooking training only with the control arm on adolescents’ dietary intakes. This study consisted of 340 secondary school students aged 14 years in rural and urban Malaysia. A total of two arms of intervention and one arm of control were included. Intervention one focused on healthy cooking preparation for the canteen and convenience shop operators. Intervention two included subsidization for fruits and vegetables with a healthy cooking preparation training for the canteen and suggestions on providing healthy options to the convenience shop operators. The outcome measured was changes to dietary intake. It was measured using a three-day dietary history pre- and post-intervention. A paired-t test was used to evaluate the outcome of intervention programmes on dietary changes for all arms (control, intervention one and two). An ANCOVA test was used to investigate the effect of providing subsidization and healthy cooking preparation training to the canteen and convenience shop operators on adolescents’ dietary intakes as compared to the control arm. Overall, the reduction in energy and carbohydrates for all arms were observed. Interestingly, fat intake was significantly increased after the four-week intervention programme under healthy cooking intervention but not in the food subsidization group. When comparing between control, healthy cooking training only and subsidization with the healthy cooking training arm, there was no significant changes between arms. A robust intervention to include subsidization of healthy foods for intervention programmes at schools in a larger scale study is needed to confirm this finding.     

Secondary Metabolite Profiling Via LC-HRMS Q-TOF of Foleyola Billotii,an Endemic Brassicaceae Plant of North-Western Sahara

Pharmaceutical Chemistry Journal - LC-HRMS Q-TOF method was used to identify and quantify metabolites of Foleyola billotii Maire plant. A series of 15 compounds were tentatively identified: three...     

Prescribing patterns of psychotropic medications in psychiatric disorders: a descriptive study from Palestine

International Journal of Clinical Pharmacy - Background The practice patterns of psychiatrists have changed over the last two decades. Objectives This study describes the pattern of prescribing...     

Metabolic functional imaging for tumor radiosensitivity monitoring

Assessing tumor radiosensitivity before and during radiation therapy can be a crucial element in decision-making with regard to treatment. However, no known non-invasive test is available at present, which allows for a reliable evaluation of the radiosensitivity of a tissue subjected to radiotherapy. Among tests being evaluated, positron emission tomography (PET) is considered to be a promising method. The purpose of this review is to identify the tests and research paths that have recently been explored for the evaluation of tumor response to treatment after isotopic labeling revealed by nuclear imaging. The majority of the explored methodologies are based on the indirect evaluation of the radiosensitivity by cell proliferation or apoptosis, tissue oxygenation or hypoxia, intrinsic radiosensitivity of clonogenic cells, tumor metabolism and angiogenesis. The development of such methods would permit the adoption of a therapeutic regimen with respect to a given radiosensitivity of a tissue. Therefore, a given therapeutic strategy could be readjusted (by associating, for instance, a radiosensitizer of hypoxic cells) or even modified if it proved to be inadequate or when it presents an unfavorable cost-effectiveness ratio. We present here a critical review of the radiotracers revealed by nuclear imaging that are developed for radiosensitivity monitoring.     

Reduced-intensity conditioning regimen using low-dose total body irradiation before allogeneic transplant for hematologic malignancies: Experience from the European Group for Blood and Marrow Transplantation

PURPOSE: The high rate of toxicity is the limitation of myeloblastive regimens before allogeneic transplantation. A reduced intensity regimen can allow engraftment of stem cells and subsequent transfer of immune cells for the induction of a graft-vs.-tumor reaction. METHODS AND MATERIALS: The data from 130 patients (80 males and 50 females) treated between 1998 and 2003 for various hematologic malignancies were analyzed. The median patient age was 50 years (range, 3-72 years). Allogeneic transplantation using peripheral blood or bone marrow, or both, was performed in 104 (82%), 22 (17%), and 4 (3%) patients, respectively, from HLA identical sibling donors (n = 93, 72%), matched unrelated donors (n = 23, 18%), mismatched related donors (4%), or mismatched unrelated donors (6%). Total body irradiation (TBI) at a dose of 2 Gy delivered in one fraction was given to 101 patients (78%), and a total dose of 4-6 Gy was given in 29 (22%) patients. The median dose rate was 14.3 cGy/min (range, 6-16.4). RESULTS: After a median follow-up period of 20 months (range, 1-62 months), engraftment was obtained in 122 patients (94%). Acute graft-vs.-host disease of Grade 2 or worse was observed in 37% of patients. Multivariate analysis showed three favorable independent factors for event-free survival: HLA identical sibling donor (p < 0.0001; relative risk [RR], 0.15), complete remission (p < 0.0001; RR, 3.08), and female donor to male patient (p = 0.006; RR 2.43). For relapse, the two favorable prognostic factors were complete remission (p < 0.0001, RR 0.11) and HLA identical sibling donor (p = 0.0007; RR 3.59). CONCLUSIONS: In this multicenter study, we confirmed high rates of engraftment and chimerism after the reduced intensity regimen. Our results are comparable to those previously reported. Radiation parameters seem to have no impact on outcome. However, the lack of a statistically significant difference in terms of dose rate may have been due, in part, to the small population size in the subgroup analysis.     

Anti-allergic drugs and the Annexin-A1 system

This paper, which was presented at the 17th JMRC ‘John Robert Vane Memorial’ Symposium, describes some recent work from the authors’ laboratory that provides a tentative explanation for the anti-inflammatory effects produced by the cromoglycate-like antiallergic drugs. Some of the implications of this finding are discussed.