Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome

Background

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplantation (HSCT).

Procedure

In this retrospective study, we evaluated HSCT that was performed using a reduced toxicity myeloablative conditioning regimen in patients with MNGIE at our center.

Results

A total of six allogeneic transplant procedures were performed in four patients. Three patients had fully matched donors, and one patient had a haploidentical donor. Treosulfan-based myeloablative conditioning regimen was applied in five of six transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without graft versus host disease (GVHD). One patient died of acute stage IV gastrointestinal system GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant.

Conclusions

Treosulfan-based regimen is well tolerated, although engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature.     

Comparison of Clinical Characteristics and Pregnancy and Neonatal Outcomes Between Turkish Citizens and Syrian Refugees with High-Risk Pregnancies

Refugee women experience more negative pregnancy and neonatal outcomes, such as low birth weight and preterm birth. The aim of the present study was to compare the clinical characteristics and pregnancy and neonatal outcomes between Turkish citizens and Syrian refugees with high-risk pregnancies. This prospective cohort study was conducted between March and December 2020 in Sanliurfa, Turkey. The maternal characteristics and pregnancy and neonatal outcomes were compared between the two groups. In this study, a total of 302 high-risk pregnant women (233 Turkish citizens and 69 Syrian refugees) were included. Parity and pregnancy spacing shorter than 2 years were significantly higher in Syrian refugees. Age, previous abortion or miscarriage and rates of cesarean section (C/S) were significantly higher in Turkish citizens. The live birth (Turkish: 94.8% vs Syrian: 92.8%), preterm birth (Turkish: 10% vs Syrian: 9.4%), low birth weight (Turkish: 7.7% vs Syrian: 3.1%) rates and birth weight (g) (Turkish: 3097.5?±?501.3 g; Syrian: 2980.2?±?395.0 g) were not significantly different between Turkish citizens and Syrian refugees with high-risk pregnancy. Similar pregnancy and neonatal outcomes could be attributed to the Syrians receiving adequate and free maternity care, similar to the Turkish citizens.

     

Evaluation of primary teeth affected by dental trauma in patients visiting a university clinic,Part 1: Epidemiology

Clinical Oral Investigations - The retrospective study reported herein was the first of three that investigated dental trauma in primary teeth. This article discusses the study that aimed to reveal...     

A Gravidade da Doença Afeta os Parâmetros de Repolarização Ventricular em Pacientes com COVID-19

Background:There is no study evaluating the T_peak-T_end (Tpe) interval, Tpe/QT ratio, and Tpe/QTc ratio to assess cardiac arrhythmias in patients with COVID-19.Objective:We aimed to examine whether there is a change in QT, QTc, Tpe interval, Tpe/QT ratio, and Tpe/QTc ratio in patients with COVID-19.Methods:The study included 90 patients with COVID-19 infection and 30 age-and-sex-matched healthy controls. QT, QTc, Tpe interval, Tpe/QT ratio, and Tpe/QTc ratio were measured. The participants included in the study were divided into the following 4 groups: healthy controls (group I), patients with COVID-19 without pneumonia (group II), patients with COVID-19 and mild pneumonia (group III), and patients with COVID-19 and severe pneumonia (group IV). Statistical significance was set at p < 0.05.Results:It was found that baseline heart rate, presence of hypertension and diabetes, white blood cell count, blood urea nitrogen, creatinine, potassium, aspartate aminotransferase, alanine aminotransferase, NT-proBNP, high sensitive C reactive protein, D-dimer, hs-cTnI, Tpe, Tpe/QT, and Tpe/QTc increased from group I to group IV, and they were significantly higher in all patients in group IV (p < 0.05). Systolic-diastolic blood pressure, hemoglobin, and calcium levels were found to be lowest in group IV and significantly lower than in other groups (< 0.05). QT and QTc intervals were similar between groups. It was determined that increased heart rate, calcium, D-dimer, NT-proBNP and hs-CRP levels were significantly related to Tpe, Tpe/QT, and Tpe/QTc.Conclusions:In patients with COVID-19 and severe pneumonia, Tpe, Tpe/QT ratio, and Tpe/QTc ratio, which are among ventricular repolarization parameters, were found to be increased, without prolonged QT and QTc intervals. In this study, we cannot definitively conclude that the ECG changes observed are directly related to COVID-19 infection or inflammation, but rather associated with severe COVID-19 scenarios, which might involve other causes of inflammation and comorbidities. (Arq Bras Cardiol. 2020; 115(5):907-913)     

A framework for reviewing livestock disease reporting systems in high‐risk areas: assessing performance and perceptions towards foot and mouth disease reporting in the Thrace region of Greece,Bulgaria and Turkey

Disease reporting is an essential frontline component of surveillance systems, particularly for detecting incursions of new and emerging diseases. It has the advantages of being comprehensive and continuous, with the potential to reduce the time of disease detection and the extent of consequent spread. A number of exotic diseases, including sheep and goat pox, lumpy skin disease, peste des petits ruminants and foot and mouth disease have historically entered into south‐eastern Europe through the Thrace region, which extends across neighbouring areas of Greece, Bulgaria and Turkey. In this high‐risk area, multiple factors can reduce the sensitivity of disease reporting across the diverse production systems and animal health services need robust and effective disease reporting systems. While describing a training exercise designed to provide animal health services of the three countries with the knowledge and skills for conducting comprehensive in‐country assessments, we provide an initial evaluation of the sensitivity of foot and mouth disease reporting and identify gaps and constraints in the Thrace region. An expert elicitation approach was used to consult official veterinarians from central and local animal health authorities of the three countries, and scenario trees modelling was applied to analyse the collected data. The reported sensitivity of disease reporting often varied between the central and local veterinary authorities within the three countries. Awareness of clinical disease, of reporting procedures and of biosecurity measures affected the early stages of disease reporting, particularly in the production systems identified at lower reporting sensitivity such as small ruminant's herds, mixed bovine herds and backyard herds. Despite its limitations this training exercise provided an effective framework (a) to develop capacities of the veterinary services in the region and (b) to supply initial evidence for guiding further interventions targeting those sectors and stakeholders at lower reporting sensitivity to reduce risks of disease introduction.