The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.

BACKGROUND: Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis. Unlike dietary intake and renal reabsorption, the importance of de novo biosynthesis pathway in carnitine homeostasis remains unclear, due to lack of animal models and description of a single patient defective in this pathway. CASE PRESENTATION: We identified by array comparative genomic hybridization a 42 months-old girl homozygote for a 221 Kb interstitial deletions at 11p14.2, that overlaps the genes encoding Fibin and butyrobetaine-gamma 2-oxoglutarate dioxygenase 1 (BBOX1), an enzyme essential for the biosynthesis of carnitine de novo. She presented microcephaly, speech delay, growth retardation and minor facial anomalies. The levels of almost all evaluated metabolites were normal. Her serum level of free carnitine was at the lower limit of the reference range, while her acylcarnitine to free carnitine ratio was normal. CONCLUSIONS: We present an individual with a completely defective carnitine de novo biosynthesis. This condition results in mildly decreased free carnitine level, but not in clinical manifestations characteristic of carnitine deficiency disorders, suggesting that dietary carnitine intake and renal reabsorption are sufficient to carnitine homeostasis. Our results also demonstrate that haploinsufficiency of BBOX1 and/or Fibin is not associated with Primrose syndrome as previously suggested

Third national surveillance of risk factors of non-communicable diseases (SuRFNCD-2007) in Iran: methods and results on prevalence of diabetes, hypertension, obesity, central obesity, and dyslipidemia

<p>Abstract</p> <p>Background</p> <p>The burden of non-communicable diseases is rising globally. This trend seems to be faster in developing countries of the Middle East. In this study, we presented the latest prevalence rates of a number of important non-communicable diseases and their risk factors in the Iranian population.</p> <p>Methods</p> <p>The results of this study are extracted from the third national Surveillance of Risk Factors of Non-Communicable Diseases (SuRFNCD-2007), conducted in 2007. A total of 5,287 Iranian citizens, aged 15–64 years, were included in this survey. Interviewer-administered questionnaires were applied to collect the data of participants including the demographics, diet, physical activity, smoking, history of hypertension, and history of diabetes. Anthropometric characteristics were measured and serum biochemistry profiles were determined on venous blood samples. Diabetes (fasting plasma glucose ≥ 126 mg/dl), hypertension (systolic blood pressure ≥ 140 mmHg, diastolic blood pressure ≥ 90 mmHg, or use of anti-hypertensive drugs), dyslipidemia (hypertriglyceridemia: triglycerides ≥ 150 mg/dl, hypercholesterolemia: total cholesterol ≥ 200 mg/dl), obesity (body mass index ≥ 30 kg/m²), and central obesity (waist circumference ≥ 80 cm in females and ≥ 94 cm in males) were identified and the national prevalence rates were estimated.</p> <p>Results</p> <p>The prevalence of diabetes, hypertension, obesity, and central obesity was 8.7% (95%CI = 7.4–10.2%), 26.6% (95%CI = 24.4–28.9%), 22.3% (95%CI = 20.2–24.5%), and 53.6% (95%CI = 50.4–56.8%), respectively. The prevalence of hypertriglyceridemia and hypercholesterolemia was 36.4% (95%CI = 34.1–38.9%) and 42.9% (95%CI = 40.4–45.4%), respectively. All of the mentioned prevalence rates were higher among females (except hypertriglyceridemia) and urban residents.</p> <p>Conclusion</p> <p>We documented a strikingly high prevalence of a number of chronic non-communicable diseases and their risk factors among Iranian adults. Urgent preventive interventions should be implemented to combat the growing public health problems in Iran.</p

Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c

Fasting plasma glucose (FPG) and hemoglobin A1c (HbA1c) are both used to diagnose diabetes, but these measurements can identify different people as having diabetes. We used data from 117 population-based studies and quantified, in different world regions, the prevalence of diagnosed diabetes, and whether those who were previously undiagnosed and detected as having diabetes in survey screening, had elevated FPG, HbA1c or both. We developed prediction equations for estimating the probability that a person without previously diagnosed diabetes, and at a specific level of FPG, had elevated HbA1c, and vice versa. The age-standardized proportion of diabetes that was previously undiagnosed and detected in survey screening ranged from 30% in the high-income western region to 66% in south Asia. Among those with screen-detected diabetes with either test, the age-standardized proportion who had elevated levels of both FPG and HbA1c was 29–39% across regions; the remainder had discordant elevation of FPG or HbA1c. In most low- and middle-income regions, isolated elevated HbA1c was more common than isolated elevated FPG. In these regions, the use of FPG alone may delay diabetes diagnosis and underestimate diabetes prevalence. Our prediction equations help allocate finite resources for measuring HbA1c to reduce the global shortfall in diabetes diagnosis and surveillance

Global variations in diabetes mellitus based on fasting glucose and haemogloblin A1c

Fasting plasma glucose (FPG) and haemoglobin A1c (HbA1c) are both used to diagnose diabetes, but may identify different people as having diabetes. We used data from 117 population-based studies and quantified, in different world regions, the prevalence of diagnosed diabetes, and whether those who were previously undiagnosed and detected as having diabetes in survey screening had elevated FPG, HbA1c, or both. We developed prediction equations for estimating the probability that a person without previously diagnosed diabetes, and at a specific level of FPG, had elevated HbA1c, and vice versa. The age-standardised proportion of diabetes that was previously undiagnosed, and detected in survey screening, ranged from 30% in the high-income western region to 66% in south Asia. Among those with screen-detected diabetes with either test, the agestandardised proportion who had elevated levels of both FPG and HbA1c was 29-39% across regions; the remainder had discordant elevation of FPG or HbA1c. In most low- and middle-income regions, isolated elevated HbA1c more common than isolated elevated FPG. In these regions, the use of FPG alone may delay diabetes diagnosis and underestimate diabetes prevalence. Our prediction equations help allocate finite resources for measuring HbA1c to reduce the global gap in diabetes diagnosis and surveillance.peer-reviewe

Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults

Background Underweight and obesity are associated with adverse health outcomes throughout the life course. We estimated the individual and combined prevalence of underweight or thinness and obesity, and their changes, from 1990 to 2022 for adults and school-aged children and adolescents in 200 countries and territories. Methods We used data from 3663 population-based studies with 222 million participants that measured height and weight in representative samples of the general population. We used a Bayesian hierarchical model to estimate trends in the prevalence of different BMI categories, separately for adults (age ≥20 years) and school-aged children and adolescents (age 5–19 years), from 1990 to 2022 for 200 countries and territories. For adults, we report the individual and combined prevalence of underweight (BMI 2 SD above the median). Findings From 1990 to 2022, the combined prevalence of underweight and obesity in adults decreased in 11 countries (6%) for women and 17 (9%) for men with a posterior probability of at least 0·80 that the observed changes were true decreases. The combined prevalence increased in 162 countries (81%) for women and 140 countries (70%) for men with a posterior probability of at least 0·80. In 2022, the combined prevalence of underweight and obesity was highest in island nations in the Caribbean and Polynesia and Micronesia, and countries in the Middle East and north Africa. Obesity prevalence was higher than underweight with posterior probability of at least 0·80 in 177 countries (89%) for women and 145 (73%) for men in 2022, whereas the converse was true in 16 countries (8%) for women, and 39 (20%) for men. From 1990 to 2022, the combined prevalence of thinness and obesity decreased among girls in five countries (3%) and among boys in 15 countries (8%) with a posterior probability of at least 0·80, and increased among girls in 140 countries (70%) and boys in 137 countries (69%) with a posterior probability of at least 0·80. The countries with highest combined prevalence of thinness and obesity in school-aged children and adolescents in 2022 were in Polynesia and Micronesia and the Caribbean for both sexes, and Chile and Qatar for boys. Combined prevalence was also high in some countries in south Asia, such as India and Pakistan, where thinness remained prevalent despite having declined. In 2022, obesity in school-aged children and adolescents was more prevalent than thinness with a posterior probability of at least 0·80 among girls in 133 countries (67%) and boys in 125 countries (63%), whereas the converse was true in 35 countries (18%) and 42 countries (21%), respectively. In almost all countries for both adults and school-aged children and adolescents, the increases in double burden were driven by increases in obesity, and decreases in double burden by declining https://researchonline.ljmu.ac.uk/images/research_banner_face_lab_290.jpgunderweight or thinness. Interpretation The combined burden of underweight and obesity has increased in most countries, driven by an increase in obesity, while underweight and thinness remain prevalent in south Asia and parts of Africa. A healthy nutrition transition that enhances access to nutritious foods is needed to address the remaining burden of underweight while curbing and reversing the increase in obesity

2014 Proceedings of the 31st ISARC

The use of logistics milestones, as predecessors for construction works, is gaining popularity to improve the control over the material procurement stage and minimize the risks of delay in the project completion resulting from late material deliveries. Transportation is an important phase in the procurement process which can account for up to 20% of the total project expenditure in some industrial construction projects. However, despite its importance, transportation is usually overlooked when planning the material procurement stage and evaluating the potential risks of delay. This study evaluates the current practices in managing transportation stage of the construction material procurement process and the perception of the industry practitioners about the importance of considering material transportation in project planning using the results of a limited systematic survey. In addition, the importance of transportation in the procurement of construction materials is studied by considering the actual data on shipment of construction materials/components in two industrial projects. Results indicate that material handling procedures adopted in industry are highly disorganized and transportation variables are ineffectively articulated. The results highlight the need for methods to plan, monitor and control the transportation stage as an independent activity in the material’s life cycle. Besides the travelling distance, weight, dimension, mode of transportation, and terms of delivery were identified as the main factors affecting the transportation of the construction materials

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.

The 2q3 duplication and 4q3 deletion syndromes are two conditions with variable phenotypes including Pierre-Robin sequence (PRS), limb anomalies, congenital heart defects (CHD), developmental delays and intellectual disabilities. We describe a patient born to a mother with a balanced t(2; 4) translocation who combines both a 2q34-qter duplication and a 4q34.2-qter deletion through inheritance of the derivative chromosome 4 (der(4)). He showed developmental delay, growth retardation, hearing problems, minor facial and non-facial anomalies, such as bilateral fifth finger shortness and clinodactyly, but no PRS or CHD. The comparison of his features with those of 46 and 65 published cases of 2q3 duplication and 4q3 deletion, respectively, allows us to further restrict the size of the proposed critical intervals for PRS and CHD on chromosome 4

A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children&rsquo;s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric Pathology Research center, Research Institute for Children Health, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 3Physical Medicine and Rehabilitation Department, Imam Khomeini Hospital Complex (IKHC), Tehran University of Medical Sciences (TUMS), Tehran, Iran; 4Maternal, Fetal and Neonatal Research Center, Imam khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran; 5Physical Medicine and Rehabilitation Department, Children&rsquo;s Medical Center, Tehran University of Medical Sciences (TUMS), Tehran, IranAbstract: Spinal muscular atrophy (SMA) is a disorder characterized by decreased motor function due to the muscle atrophy in the background of degenerated anterior horn cells and motor cells of lower cranial nerves nuclei. The most frequent form is inherited as an autosomal recessive trait resulting from mutations in the survival motor neuron gene (SMN-1). On the other hand, a rare variant of this condition, named progressive myoclonic epilepsy subtype (SMA-PME) occurs in the result of a mutation in N-acylsphingosine amidohydrolase-1 gene (ASAH-1). The latter gene is responsible for lysosomal acid-ceramidase production. SMA-PME has been characterized by a progressive muscle weakness from ages 3&ndash;7&nbsp;years, accompanied by epilepsy, an intractable seizure, and sometimes sensorineural hearing loss. In this report, we have presented a 15-year old female patient with SMA-PME that was attended to neurology clinic for a new onset tremor, seizure and proximal weakness in all limbs. We identified a homozygous mutation in exon II on her ASAH-1 gene [c.173C&gt;T (p. Thr58Met)]. Also, a modest reduction was found in ceramidase-activity. As was expected patient`s seizures did not respond to conventional therapies.Keywords: muscular atrophy, case report, myoclonic epilepsies, seizure

Evaluating the pre-, peri- and post-natal conditions of neonates affected by multiple congenital anomalies: a brief report

Background: Neonatal deaths stand for almost two-thirds of all deaths occurring in infants under one year of age. Congenital anomalies are responsible for 24.5% of these cases forming a highly important issue for health policy-makers.Methods: We studied the pre-, peri- and post-natal conditions of 77 patients with multiple congenital anomalies (MCA) through genetic counseling at Several university Hospitals, in Tehran, Iran. The collected data were subsequently analyzed using SPSS software. Results: The patients did not have a good prognosis, demonstrating the need for the diagnosis of such diseases early in pregnancy to be of utmost importance. We screened for trisomy and nuchal translucency, which the first showed a low risk and the second showed normal results in most cases.Conclusion: Establishment of standards for prenatal diagnosis of congenital anomalies and monitoring their implementation seem to be necessary for the reduction of deaths due to congenital anomalies and infant mortality rate (IMR)