De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration

Ultrasound cervical length in predicting preterm birth

BackgroundPreterm birth is a leading cause of perinatal morbidity and mortality and represents a major public health problem. It is associated with a 15–20 per cent mortality rate and remains responsible for 75 per cent of perinatal deaths in foetuses without anomalies.AimsThe aim of this study was to evaluate the importance of cervical length measured in the first trimester (11–14 Weeks of amenorrhea “WA”) and the second trimester (20–24 Weeks of amenorrhea” WA”) in an asymptomatic population of singleton pregnancies to assess the risk of spontaneous preterm birth compared to the digital assessment.Methods We conducted a prospective, longitudinal study involving 117 asymptomatic women with singleton pregnancies between January and December 2015.Results In our study, the clinical examination had a low positive predictive value and a low sensibility for screening women at risk of preterm delivery. Cervical length less than 35mm between 12–14WA and 30mm between 22–24WA predicts the occurrence of preterm birth with a high sensitivity (Se), and specificity (Sp).ConclusionWe conclude that ultrasound screening of preterm delivery is now highly recommended

Impact of nutrients and Mediterranean diet on the occurrence of gestational diabetes

Background: The Mediterranean diet (MedDiet) is a dietary pattern effective in terms of prevention of many diseases such as gestational diabetes mellitus (GDM). Recently, many studies have paid attention to nutritional factors during pregnancy as a modifiable contributor to GDM risk. Objective: to investigate associations of nutrients intakes and MedDiet pattern of eating with risk of GDM. Subjects/Methods: This study conducted on N = 120; Pregnant women with GDM (n = 60) and without controls (n = 60). The dietary habits were assessed by a dietary history method and a validated food frequency questionnaire. We calculated a MedDiet score which measures the degree of adherence to a Med Diet. Result: A low Med Diet score was found in pregnant women with and without gestational diabetes in 46.7% and 38.8% of cases, respectively, with no significant difference. Our data showed that the higher the adherence score to the MedDiet, the lower the fasting blood glucose level and the plasma glucose 2 h post load. These findings concerned the two groups studied (P < 10−3). We also noted that controls had a significantly higher intake of legumes, vegetables and fish. Monounsaturated fatty acids and saturated fatty acids consumption was significantly higher in the control group (2.3 ± 0.8 vs 1.7 ± 0.7, P < 10−3). GDM subjects consumed significantly more dairy products and cereals (P < 10−3). After adjustment for confounders, no nutrient was associated with the risk of developing gestational diabetes except vitamin D intake (OR 0.29 [0.15−0.54], P < 10−3) which had a protective effect. Conclusion: Our study underlines the importance of adequate vitamin D intake during pregnancy and suggests that the MedDiet may reduce the incidence of gestational diabetes

Impact of nutrients and Mediterranean diet on the occurrence of gestational diabetes

Background: The Mediterranean diet (MedDiet) is a dietary pattern effective in terms of prevention of many diseases such as gestational diabetes mellitus (GDM). Recently, many studies have paid attention to nutritional factors during pregnancy as a modifiable contributor to GDM risk. Objective: to investigate associations of nutrients intakes and MedDiet pattern of eating with risk of GDM. Subjects/Methods: This study conducted on N = 120; Pregnant women with GDM (n = 60) and without controls (n = 60). The dietary habits were assessed by a dietary history method and a validated food frequency questionnaire. We calculated a MedDiet score which mea- sures the degree of adherence to a Med Diet. Result: A low Med Diet score was found in pregnant women with and without gestational diabetes in 46.7% and 38.8% of cases, respectively, with no significant difference. Our data showed that the higher the adherence score to the MedDiet, the lower the fasting blood glucose level and the plasma glucose 2 h post load. These findings concerned the two groups studied (P &lt; 10−3). We also noted that controls had a significantly higher intake of legumes, vegetables and fish. Monounsaturated fatty acids and saturated fatty acids consumption was significantly higher in the control group (2.3 ± 0.8 vs 1.7 ± 0.7, P &lt; 10−3). GDM subjects consumed significantly more dairy products and cereals (P &lt; 10−3). After adjustment for confounders, no nutrient was associated with the risk of developing gestational diabetes except vitamin D intake (OR 0.29 [0.15−0.54], P &lt; 10−3) which had a protective effect. Conclusion: Our study underlines the importance of adequate vitamin D intake during pregnancy and suggests that the MedDiet may reduce the incidence of gestational diabetes

The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to autism has been demonstrated in families and twin studies. About 5–10% of autism cases are associated with chromosomal abnormalities or monogenic disorders. The identification of genes involved in the origin of autism is expected to increase our understanding of the pathogenesis. We report on the clinical, cytogenetic, and molecular findings in a boy with autism carrying a de novo translocation t(7;16)(p22.1;p11.2). The chromosome 16 breakpoint disrupts the paralogous SLC6A8 gene also called SLC6A10 or CT2. Predicted translation of exons and RT-PCR analysis reveal specific expression of the creatine transporter paralogous in testis and brain. Several studies reported on the role of X-linked creatine transporter mutations in individuals with mental retardation, with or without autism. The existence of disruption in SLC6A8 paralogous gene associated with idiopathic autism suggests that this gene may be involved in the autistic phenotype in our patient

Design and Rationale of the National Tunisian Registry of Heart Failure (NATURE-HF): Protocol for a Multicenter Registry Study

BackgroundThe frequency of heart failure (HF) in Tunisia is on the rise and has now become a public health concern. This is mainly due to an aging Tunisian population (Tunisia has one of the oldest populations in Africa as well as the highest life expectancy in the continent) and an increase in coronary artery disease and hypertension. However, no extensive data are available on demographic characteristics, prognosis, and quality of care of patients with HF in Tunisia (nor in North Africa). ObjectiveThe aim of this study was to analyze, follow, and evaluate patients with HF in a large nation-wide multicenter trial. MethodsA total of 1700 patients with HF diagnosed by the investigator will be included in the National Tunisian Registry of Heart Failure study (NATURE-HF). Patients must visit the cardiology clinic 1, 3, and 12 months after study inclusion. This follow-up is provided by the investigator. All data are collected via the DACIMA Clinical Suite web interface. ResultsAt the end of the study, we will note the occurrence of cardiovascular death (sudden death, coronary artery disease, refractory HF, stroke), death from any cause (cardiovascular and noncardiovascular), and the occurrence of a rehospitalization episode for an HF relapse during the follow-up period. Based on these data, we will evaluate the demographic characteristics of the study patients, the characteristics of pathological antecedents, and symptomatic and clinical features of HF. In addition, we will report the paraclinical examination findings such as the laboratory standard parameters and brain natriuretic peptides, electrocardiogram or 24-hour Holter monitoring, echocardiography, and coronarography. We will also provide a description of the therapeutic environment and therapeutic changes that occur during the 1-year follow-up of patients, adverse events following medical treatment and intervention during the 3- and 12-month follow-up, the evaluation of left ventricular ejection fraction during the 3- and 12-month follow-up, the overall rate of rehospitalization over the 1-year follow-up for an HF relapse, and the rate of rehospitalization during the first 3 months after inclusion into the study. ConclusionsThe NATURE-HF study will fill a significant gap in the dynamic landscape of HF care and research. It will provide unique and necessary data on the management and outcomes of patients with HF. This study will yield the largest contemporary longitudinal cohort of patients with HF in Tunisia. Trial RegistrationClinicalTrials.gov NCT03262675; https://clinicaltrials.gov/ct2/show/NCT03262675 International Registered Report Identifier (IRRID)DERR1-10.2196/1226