Development of A Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone (rhGH) Therapy Use in Children with Growth Hormone Deficiency (GHD) - A GloBE-Reg Initiative.

Introduction Although there are some recommendations in the literature on the assessments that should be performed in children on recombinant human growth hormone (rhGH) therapy, the level of consensus on these measurements is not clear. The objective of the current study was to identify the minimum dataset (MDS) that could be measured in a routine clinical setting across the world, aiming to minimise burden on clinicians and improve quality of data collection. Methods This study was undertaken by the GH Scientific Study Group (SSG) in GloBE-Reg, a new project that has developed a common registry platform that can support long-term safety and effectiveness studies of drugs. Twelve clinical experts from 7 international endocrine organisations identified by the GloBE-Reg Steering Committee, 2 patient representatives and representatives from 2 pharmaceutical companies with previous GH registry expertise collaborated to develop this recommendation. A comprehensive list of data fields routinely collected by each of the clinical and industry experts for children with GHD was compiled. Each member was asked to determine the: (1) Importance of the data field and (2) Ease of data collection. Data fields that achieved 70% consensus in terms of importance qualified for the MDS, provided <50% deemed the item difficult to collect. Results A total of 246 items were compiled and 27 removed due to redundancies, with 219 items subjected to the grading system. Of the 219 items, 111 achieved at least 70% consensus as important data to collect when monitoring children with GH deficiency (GHD) on rhGH treatment. Sixty-nine of the 219 items were deemed easy to collect. Combining the criteria of importance and ease of data collection, 63 met the criteria for the MDS. Several anomalies to the MDS rule were identified and highlighted for discussion, including whether the patients were involved in current or previous clinical trials, need for HbA1c monitoring, other past medical history, and adherence, enabling formulation of the final MDS recommendation of 43 items; 20 to be completed once, 14 every 6 months and 9 every 12 months. Conclusion In summary, this exercise performed through the GloBE-Reg initiative provides a recommendation of the minimum dataset requirement, collected through real-world data, for the monitoring of safety and effectiveness of rhGH in children with GHD, both for the current daily preparations and the newer long-acting growth hormone.

Bioguided isolation of potential antitumor agents from the aerial parts of cultivated cardoon (Cynara cardunculus var. altilis).

Hepatocellular carcinoma (HCC) is one of the leading causes of mortality worldwide; therefore, searching for an effective treatment for this illness is of great importance. In the present work, in vitro cytotoxic activity of the ethanol extract of the aerial parts of Cynara cardunculus L. against human liver carcinoma cells (Hep G2) was tested. Additionally, the antitumor activity of the extract was confirmed using chemically induced rat liver carcinogenesis with diethylnitrosamine (DEN). Moreover, bioguided fractionation and column chromatographic separation of the active compounds were carried out. The extract of C. cardunculus showed a promising cytotoxic activity according to the protocols of the National Cancer Institute. Bioguided chromatographic separation of the ethanol extract of C. cardunculus led to the isolation of seven secondary metabolites including two sesquiterpene lactones as the principal active components of the methylene chloride soluble fraction, grosheimin (IC50 = 7.49 µg/mL) and cynaropicrin (IC50 = 13.9 µg/mL). The compounds were characterized by different spectroscopic techniques such as EI-MS, IR and NMR. Additionally, in silico analysis of the two active compounds revealed their ability to bind with caspase-3 via hydrogen bonds interactions to initiate apoptosis of cancer cells. The results shed the light on the significance of C. cardunculus as a potential source of antitumor agents.

Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village .

Congenital adrenal hyperplasia (CAH), if untreated, carries high morbidity and mortality. A higher incidence of CAH is expected in countries where consanguinity is common, such as in the countries of the WHO Eastern Mediterranean Region (EMRO). CAH is managed through lifelong treatment with fludrocortisone and hydrocortisone. In this analysis, performed in the 22 EMRO countries and territories plus Algeria, we review which countries offer a neonatal screening programme for CAH and describe the barriers and opportunities to access oral fludrocortisone and oral and injectable hydrocortisone. Neonatal CAH screening was only available nationally in Qatar, Kuwait and partially in Lebanon and Saudi Arabia. We reviewed the national lists of essential medicines (NEMLs) and found that 13/23 (57%) countries included fludrocortisone and 18/23 (78%) included oral hydrocortisone. Fludrocortisone was not included by any of the low-income countries and oral hydrocortisone was only included by one low-income country. We then contacted paediatric endocrinologists in each country to assess perceived availability of these medicines. Overall, there was a relatively good consistency between inclusion of fludrocortisone and hydrocortisone in the NEML and their actual availability in a country. We propose several mechanisms to improve access, including prequalification by the WHO, a common registration process for groups of countries, pooled procurement, working with local pharmaceutical companies, special access status for medicines not yet registered in a country and compounding. We suggest that access to medicines requires a collaboration between health professionals, families of patients, health authorities, pharmaceutical companies and the WHO.

Monitoring Haematocrit in Paediatric Patients Receiving Testosterone Therapy in Arab Countries.

Objectives Testosterone is the main agent used to induce puberty in boys in Arab countries. It is recommended to monitor haematocrit before and during androgen replacement. However, data from single centre studies indicated that this recommendation is rarely practiced by paediatricians compared to adult physicians. The aim of this study is to evaluate the monitoring of haematocrit of patients on Testosterone therapy by paediatric endocrinologists practicing in Arab countries. Methods A cross-sectional study using an online survey that was sent to all members of the Arab Society for Paediatric Endocrinology and Diabetes (ASPED), who they practice in all Arab countries. The study was carried out between July and October 2019. Ethical approval was granted by ASPED council in May 2019 (MRE2019-02Q).  Results One hundred four physicians responded to the survey from 17 countries. 81/104 (77.8%) answered the question about Testosterone monitoring (42 paediatric endocrinologists, 11 general paediatrician consultants with interest in endocrine, 16 specialists, four fellows and eight residents). Of the 81 responders 18 clinicians (22.2%) thought of monitoring the haematocrit; 15 (18.5%) thought no laboratory monitoring is needed at all. Conclusion The survey indicated that most paediatric endocrinologists in Arab countries do not monitor haematocrit in patients on testosterone replacement and majority are not aware that secondary erythrocytosis can result from androgen therapy. Raising the awareness on monitoring haematocrit during androgen replacement therapy is needed especially when reaching the adult dose.

The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes.

The aims of the 2021 European Training Requirements (ETR) in Paediatric Endocrinology and Diabetes (PED) are to (1) provide standards to harmonize training programmes in PED between different European countries, (2) establish clearly defined standards of knowledge and skills required to practice PED at the tertiary care level, (3) foster the development of a network of competent tertiary care centres for PED in Europe and globally, and (4) improve the quality of care for children and adolescents requiring PED services. This ETR in PED specifies the requirements for training institutions, trainers, and trainees. It also provides the detailed syllabus/core content that trainees are expected to achieve in order to become competent independent clinicians in PED. References to consensus guidelines produced and/or endorsed by ESPE are included. The target users are trainees in PED, trainers, and all involved with quality assurance and accreditation. The process to develop and approve this 2021 ETR has been rigorous and involved trainees and consultants in paediatric and adult Endocrinology, ESPE (Syllabus Task Force, Education and Training Committee, Council), European Academy of Paediatrics (Tertiary Care Council, Assembly), European Board of Paediatrics, and Union of European Medical Specialists. Implementing the ETR will complement professional regulatory requirements for postgraduate training in PED in different countries and allow harmonizing standards across Europe. ETR is publicly available at www.eurospe.org/education/education-training-syllabus and at https://www.uems.eu/__data/assets/pdf_file/0007/133990/UEMS-2021.17-European-Training-Requirement-in-Paediatric-Endocrinology.pdf.

Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries.

Objectives There are some variations in the practice of puberty induction between different regions; however, data from Arab countries are lacking. We aimed to survey the practice of pediatric endocrinologists in Arab countries on the timing and regimen for puberty induction in girls and boys with hypogonadism. Methods An online questionnaire was emailed to physicians registered in the Arab Society for Paediatric Endocrinology and Diabetes. Results In total, 106 replies from 17 countries were received. In non Turner syndrome (TS) girls, puberty was induced by 49.4% of participants at 12-13 years and by 32.5% at  ≥14 years. Ethinyl estradiol and conjugated estrogen were the most popular preparations used (29.7 and 16.6%, respectively). Of the participants, 60% introduce progesterone either at 2-3 years after starting estrogen or following a significant breakthrough bleeding on estrogen. In girls with TS, 84.2% of participants prescribed estrogen to those aged 11 years and older (51.5% at 11-12 years) and 5.3% prescribed it to those at the prepubertal age. In boys, 57.3% of participants induce at ≥14 years, 80.6% use intramuscular testosterone and 46.5% start with 50 mg/kg/month. Human chorionic gonadotropin is more used in non-Gulf Arab countries (18.2 vs. 2.9%; p 0.036) with a trend of using oral testosterone undecanoate in Gulf states (12.2 vs. 2.0%; p 0.051). Conclusions We describe the approach to puberty induction in boys and girls among pediatric endocrinologists in Arab countries. The observed variation in practice would be useful in developing regional consensus guidelines on puberty induction in children with hypogonadism.

Serum visfatin level as a noninvasive marker for nonalcoholic fatty liver disease in children and adolescents with obesity: relation to transient elastography with controlled attenuation parameter.

BACKGROUND: Obesity is associated with an increased risk of nonalcoholic fatty liver disease (NAFLD). Visfatin is an adipokine produced by visceral fat tissue and liver cells. Transient elastography with controlled attenuation parameter (CAP) noninvasively assesses liver fibrosis and steatosis. AIM: To measure visfatin level in 80 children and adolescents with obesity as a potential biomarker for NAFLD and assess its relation to transient elastography. METHODS: Abdominal ultrasound, liver stiffness and CAP measurements were performed for all patients. Fasting lipid profile, fasting blood glucose, insulin level, liver and kidney functions, coagulation profile and serum visfatin levels were assessed. RESULTS: Among patients with obesity, 31 (38.8%) had NAFLD and 16 (20%) patients had elevated alanine aminotransferase (ALT), while 9 (11.2%) had both NAFLD and elevated ALT. Transient elastography showed that 12.5% had fibrosis stage F1, 2.5% had F2 and another 2.5% had F3 while none had F4. Using CAP, 23.8, 13.8 and 17.5% had S1, S2 and S3, respectively. Serum visfatin levels were significantly elevated in all patients compared with nonobese controls. Higher visfatin levels were found among patients with dyslipidemia, NAFLD, elevated ALT and steatosis defined by CAP. Serum visfatin was related to the degree of fibrosis and steatosis. Visfatin cutoff value 18 ng/mL could significantly detect the presence of NAFLD with 83.9% sensitivity and 81.4% specificity. Serum visfatin was positively correlated to BMI, waist circumference, waist/hip ratio, ALT, total cholesterol, liver stiffness and CAP. CONCLUSIONS: Visfatin could be a promising serum biomarker for monitoring liver disease among pediatric patients with obesity.

Primary School Performance of Girls with Turner Syndrome: A Transcultural Assessment.

OBJECTIVES: We analyzed primary school performance of girls with Turner syndrome (TS) in two distinct countries to ascertain if the cognitive phenotype of TS causes selective learning difficulties. METHODS: The cohort comprised of 44 Czech and 50 Egyptian girls with TS who attended public schools. School reports from grades 1 to 9 were obtained retrospectively from Czech participants with TS. Only recent school reports were obtained from Egyptian participants. Two controls per participant were requested - biological sisters and/or female classmates. The results were converted into a 5-point scale (1-excellent; 5-unsatisfactory). RESULTS: Analysis of longitudinal Czech data displayed a strong time component in both subjects and controls. Showing better points in lower grades with its gradual worsening as the education complexity increased. In contrast, there was a strong statistically significant difference between groups in Mathematics (p=0.0041, p=0.0205 after Bonferroni correction) and this difference increased over time. The points for Mathematics did not differ in grades 1+2 (0.05 difference in mean grade between the two groups), however, they differed by 0.28 in grades 6+7 and by 0.32 in grades 8+9. While slightly different in character (cross-sectional vs. longitudinal), the Egyptian cohort data confirmed our findings, showing no difference in general school performance but having similar trends in Mathematics (grades 1+2: 0.11, grades 6+7: 0.54, grades 8+9: 0.68; p=0.0058, p=0.029 after Bonferroni correction). CONCLUSION: Excluding results in Mathematics, which showed pronounced worsening in relation to age in comparison with unaffected controls, girls with TS performed similarly to their controls.

Screening of Egyptian obese children and adolescents for insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme gene.

BACKGROUND: /aims: The role of angiotensin-converting enzyme (ACE) gene polymorphism in the development of obesity and hypertension in children has not been widely studied. We aimed to screen Egyptian obese children and adolescents for insertion/deletion (I/D) polymorphism in the ACE gene. METHODS: One hundred forty-two children and adolescents were included (70 with simple obesity and 72 controls). Blood pressure was measured, and anthropometric parameters were assessed in all included children and adolescents. Fasting lipid profile, fasting glucose, and insulin were measured. DNA extraction and ACE I/D polymorphism genotyping were also performed. RESULTS: Obese children had a higher frequency of DD genotype (30% in obese versus 11.1% in controls, P = .01) and D alleles (61.8% in obese versus 48.6% in controls, P = .01). Obese children with hypertension and prehypertension had higher frequency of DD genotype than II genotype and higher D alleles than I alleles. DD genotype and D allele were independently associated with hypertension (OR: 9.86 and 11.57, respectively, P < .001), while dyslipidemia and insulin resistance were not associated with the ACE I/D gene polymorphism. CONCLUSION: DD genotype and D-allele of the ACE gene polymorphism were associated with obesity and with hypertension and pre-hypertension in Egyptian children.

Anti-Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy.

Most girls with Turner syndrome (TS) suffer from incomplete sexual development, premature ovarian failure, and infertility due to abnormal ovarian folliculogenesis. Serum anti-Müllerian hormone (AMH) levels reflect the ovarian reserve in females, even in childhood. Thus, we aimed to assess serum AMH levels in girls with TS and its relation to karyotype, spontaneous puberty, and growth hormone (GH) therapy. Fifty TS were compared to 50 age- and sex-matched controls. All subjects were subjected to history, anthropometric assessment, Tanner pubertal staging and measurement of serum follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and AMH. Karyotype results were obtained from patients' records. Serum AMH was measurable in 12 TS patients (24%). The lowest frequency of measurable AMH was in patients with a karyotype of 45,X. The measurable AMH was associated with spontaneous breast development (p = .003) and spontaneous menarche (p = .001). AMH correlated negatively with FSH (r = -.846, p = .000) and LH (r = -.83, p = .034). GH therapy increased the odds of having measurable AMH in TS girls (p = .002). In conclusion, AMH was associated with karyotype, spontaneous pubertal development, LH, and FSH in TS girls and may serve as a useful marker of ovarian function and ongoing follicular development in prepuberty.

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.

Disorders of sex development (DSD) are conditions with an abnormal development of chromosomal, gonadal, or anatomical sex. Sex chromosome DSD involve conditions associated with either numerical or structural abnormalities of the sex chromosomes. This study included patients comprising a wide spectrum of presenting features suggestive of DSD and aimed at studying the frequency of sex chromosome abnormalities among 108 Egyptian DSD patients who presented to the Clinical Genetics and Endocrinology Clinics, National Research Centre (NRC) over the 2-year period of 2013 and 2014. The age of the studied patients ranged from 2 months to 39 years. The patients exhibited various presentations, including ambiguous genitalia, undescended testis, hypogonadism, short stature with Turner manifestations, primary or secondary amenorrhea, primary infertility, edema of the dorsum of the hands and feet, and dysmorphic features. The patients were subjected to detailed clinical examination, pubertal staging, and cytogenetic analysis. Our study reported a wide karyotypic diversity and a high frequency of sex chromosome DSD, reaching 44.44% (48/108). In conclusion, we showed a high incidence of sex chromosome DSD among Egyptian DSD patients with wide karyotype/phenotype diversity. The most frequent sex chromosome DSD detected among patients of the present study was Turner syndrome and variants (52.08%; 25/48) followed by Klinefelter syndrome and variants (43.75%; 21/48). Further long term studies are necessary for accurate detection of frequencies of different types of sex chromosomal anomalies and associated phenotypes.

Vitamin D status in prepubertal children with isolated idiopathic growth hormone deficiency: effect of growth hormone therapy.

Few studies, and with controversial results, analyzed vitamin D status in children before and after growth hormone (GH) treatment. Thus, we aimed to assess vitamin D status in prepubertal children with idiopathic growth hormone deficiency (GHD), and to evaluate the effect of GHD and GH treatment on vitamin D levels. Fifty prepubertal children with isolated GHD were compared with 50 controls. All were subjected to history, anthropometric assessment and measurement of 25 hydroxyvitamin D (25(OH)D), serum calcium, phosphorous, alkaline phosphatase and parathyroid hormone (PTH) at diagnosis and 1 year after GH therapy. Serum 25(OH)D levels <30 ng/mL and 20 ng/mL were defined as vitamin D insufficiency and deficiency, respectively. 25(OH)D was lower in cases than controls. Forty per cent of children with GHD were 25(OH)D insufficient and 44% deficient, while 16% were sufficient at baseline. There was a positive correlation between 25(OH)D and peak GH levels. Peak GH was a significant predictor of 25(OH)D levels. After 1 year of GH therapy, 25(OH)D increased (18.42±5.41 vs 34.5±10.1 ng/mL; P<0.001). Overall, 22% of cases remained insufficient and 24% deficient, with an increase in prevalence of children with normal levels (54%; P<0.001). 25(OH) correlated negatively with PTH (r=-0.71, P=0.01). In conclusion, hypovitaminosis D is prevalent in children with GHD and significantly improved 1 year after GH therapy. 25(OH)D should be assessed in children with GHD at diagnosis and during follow-up.

Nutritional rickets: vitamin D, calcium, and the genetic make-up.

BACKGROUND: The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role. METHODS: Prospective study: 109 rachitic children completed a 6-mo study period or until rachitic manifestations disappeared. Thirty children were selected as controls. Clinical and biochemical data were evaluated at baseline in patients and controls and biochemistry re-evaluated at radiological healing. Therapy was stratified in three different protocols. Fifty-four single-nucleotide polymorphisms (SNPs) of five vitD system genes (VDR, CP2R1, CYP27B1, CYP24A1, and GC) were genotyped and their association with clinical and biochemcial data was analyzed. RESULTS: Therapy response was similar in terms of radiological healing although it was not so in terms of biochemical normalization. Only VDR gene (promoter, start-codon, and intronic genotypes) was rickets-associated in terms of serum 25-OH-D, calcium, radiological severity and time needed to heal. Eight patients with sufficient calcium intake and 25-OH-D levels carried a VDR genotype lacking minor allele homozygous genotypes at SNPs spread along the gene. CONCLUSION: Although patients presented epidemiologic factors strongly contributing to rickets, genetic modulation affecting predisposition, severity, and clinical course is exerted, at least in part, by VDR gene polymorphic variation.

Dietary fructose intake in obese children and adolescents: relation to procollagen type III N-terminal peptide (P3NP) and non-alcoholic fatty liver disease.

BACKGROUND: Excessive use of fructose has been incriminated as a risk factor for hepatic steatosis. Procollagen type III N-terminal peptide (P3NP) is a marker for steatohepatitis. Thus, we aimed to assess fructose intake in obese children and its relation to nonalcoholic fatty liver disease (NAFLD) and P3NP. METHODS: Fifty-five obese children were compared to 30 controls. All were subjected to dietary fructose and anthropometric assessment, fasting blood sugar (FBS), fasting insulin (FI) and homeostasis model assessment of insulin resistance (HOMA-IR), lipid profile, uric acid, alanine aminotransferase (ALT), P3NP and abdominal ultrasound. RESULTS: Patients had higher fructose intake which was associated with increased NAFLD grade. There was an increase in P3NP with increased NAFLD grade. P3NP correlated positively with fructose intake (processed sources and total) and caloric intake. CONCLUSIONS: High fructose intake is associated with NAFLD and P3NP may serve as a marker of NAFLD in obese children with a proposed cutoff value of 8.5 ng/mL.

Serum Pentraxin 3 Fragment as a Noninvasive Marker of Nonalcoholic Fatty Liver Disease in Obese Children and Adolescents.

BACKGROUND/AIMS: It was suggested that serum pentraxin 3 (PTX3) levels could differentiate obese children with nonalcoholic steatohepatitis (NASH) from those with simple steatosis. Thus, we aimed to evaluate the clinical utility of serum PTX3 fragment levels in the diagnosis of NASH and the assessment of its severity in obese children with suspected nonalcoholic fatty liver disease (NAFLD). METHODS: Fifty obese children were compared to 25 matched controls. All were subjected to history taking, anthropometric measurements, and abdominal ultrasonography, as well as laboratory assessments of liver functions, fasting lipid profile, fasting blood glucose, fasting insulin, homeostasis model assessment (HOMA) index, fasting glucose/insulin ratio, and serum PTX3. RESULTS: PTX3 was higher in obese cases than controls (p = 0.0001). Eighty percent of the cases had NAFLD with progressive increases in PTX3 levels as the severity of fatty liver increased (p = 0.0001). Moreover, PTX3 was higher in cases with elevated liver enzymes (3.205 ± 0.77 U/l) than those with normal liver enzymes (2.77 + 0.69 U/l, p < 0.0001). A cutoff value of 3.03 U/l differentiated fatty liver from NASH with a sensitivity of 89% and a specificity of 86%. CONCLUSION: Noninvasive monitoring of serum PTX3 fragment levels in obese patients with suspected NAFLD may be used as a reliable tool for differentiating NASH from simple fatty liver.

Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?

Renal anomalies are present in up to 30% of patients with Turner syndrome (TS). Renal ultrasound (U/S) detects anatomical renal anomalies only while renal scintigraphy detects anomalies, detects early renal malfunction, and estimates glomerular filtration rate (GFR). Thus, we aimed to assess frequency of renal abnormalities detected by scintigraphy in comparison to renal U/S in TS patients. Ninety TS patients were subjected to auxological assessment, measurement of serum creatinine; and renal U/S and scintigraphy. Renal U/S detected renal anomalies in 22.22% of patients versus 17.78 % detected by scintigraphy (P = 0.035). Scintigraphy detected renal functional abnormalities in 44.44% of patients in the form of subnormal total GFR, abnormal renogram curve pattern, improper tracer handling and perfusion; and difference in split renal function >10% between both kidneys. Patients with a 45,X karyotype had more renal functional abnormalities (56%) than those with mosaic karyotype (33.33%), P = 0.04. In conclusion, renal scintigraphy is not superior to U/S in detection of renal anomalies but is a reliable method for early detection of renal malfunction in TS patients especially those with 45,X to ensure early management to offer a better quality of life.

Serum Chemerin in Obese Children and Adolescents Before and After L-Carnitine Therapy: Relation to Nonalcoholic Fatty Liver Disease and Other Features of Metabolic Syndrome.

BACKGROUND AND AIMS: Chemerin plays an important role in metabolic syndrome (MetS) including nonalcoholic fatty liver disease (NAFLD). L-carnitine (LC) may reduce plasma glucose, lipid profile, and improve liver function. The aim of the study was to assess serum chemerin in obese children with suspected NAFLD, the effect of LC on NAFLD grade, chemerin and metabolic profile. METHODS: Fifty obese children were compared to 50 controls. All were subjected to anthropometric assessment, liver function, fasting lipid profile, glucose/insulin (G/I) ratio, homeostasis model assessment (HOMA) index, serum chemerin and abdominal ultrasonography before and after LC. RESULTS: Serum chemerin was higher in cases than controls. Eighty percent of cases had NAFLD with increase in chemerin as severity of NAFLD increased. There was a decrease in frequency of NAFLD and its severity after LC therapy. CONCLUSIONS: Noninvasive monitoring of serum chemerin in obese patients with suspected NAFLD could be used to diagnose NAFLD. LC supplementation is effective in treatment of NAFLD and reducing chemerin.

Anthropometric and nutritional parameters in Egyptian children and adolescents with osteogenesis imperfecta.

BACKGROUND/AIMS: Patients with osteogenesis imperfecta (OI) present with various degrees of short stature and nutritional disorders. Thus, we aimed to evaluate anthropometric and nutritional parameters in OI children and their variability among various types. METHODS: Eighty-four patients with OI (types I, II, and IV) were subjected to the following anthropometric measurements: standing height (Ht), sitting height (SH), arm span, weight (Wt), and head circumference (HC), with calculation of Ht, SH, Wt, body mass index (BMI), and HC standard deviation scores (SDSs), and relative arm span. Triceps skinfold thickness (TSFT), subscapular skinfold thickness (SSFT), and mid upper arm circumference (MUAC) were measured, as well as dietary intake of macronutrients and calcium; also, energy requirements were calculated. RESULTS: Ht SDS was reduced in OI-III and OI-IV compared to OI-I; SH SDS was reduced in OI-III compared to OI-I. HC SDS was more increased in OI-III than in OI-I and OI-IV. BMI SDS correlated with TSFT, SSFT, and MUAC. OI-III patients had the highest percentage of energy intake. The frequency of low macronutrient and calcium intake was highest in OI-III, while the frequency of low fat intake was highest in OI-I. CONCLUSIONS: Anthropometric and nutritional parameters differ among OI types. Assessment of anthropometric measurements and nutritional status in OI patients is important.

Hyperandrogenemia in male autistic children and adolescents: relation to disease severity.

BACKGROUND: It has been suggested that autistic patients have elevated blood androgens, and although signs of precocious puberty have been reported in autistic patients, such a relation has not yet been clarified. OBJECTIVES: To assess serum androgen levels in a group of Egyptian male autistic children and adolescents and their relation to disease severity. In addition, the risk for association of androgens with autism was estimated. METHODS: In comparison to 20 controls, 30 male autistic children were studied. All subjects were subjected to clinical evaluation, intelligence quotient (IQ) assessment and measurement of serum free testosterone (FT), dehydroepiandosterone (DHEA) and Δ4-androstenedione (Δ4-A). RESULTS: Androgens were higher in autistic patients than in controls and increased with increased autistic severity. Of the patients, 11 (36.66%) had high FT, 9 (30%) had high DHEA, 12 (40%) had high Δ4-A and 8 (26.66%) showed elevation of all androgen levels. FT (OR: 38.45, 95% CI: 2.14-688.93, p=0.013) and Δ4-A (OR: 13.6, 95%CI: 2.25-22.89, p=0.04) had a significant risk for association with autism. CONCLUSIONS: Hyperandrogenemia is prevalent in autistic patients and increases with autistic severity. Thus, androgen levels should be assessed in autistic patients with signs of early puberty. Further studies are warranted regarding trials of anti-androgen therapy in such patients.