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Background: The relationship between precocious or early puberty and its treatment has received significant research attention, yielding diverse outcomes. This short review aims to comprehensively analyze and summarize research articles to elucidate the potential link between precocious or early pubertal onset (CPP) and crucial health factors., Methods: We conducted a systematic review of studies published from -January 2000 to March 2023, sourced from databases of Medline, PubMed, Google Scholar and Web of Science. We assessed the relationship between CPP and final adult height (FHt), bone health, reproductive function, body mass index, metabolic and cardiovascular abnormalities, and increased cancer risk., Results: Upon reviewing and analyzing selected studies, the following key findings emerged: (a) treating CPP in girls before age 6-7 and in boys before age 9 improves FHt; (b) bone mineral density (BMD) decreases during GnRHa treatment but normalizes afterward, with no lasting effects on peak bone mass during puberty; (c) GnRH treatment does not negatively affect menstrual cycles; however, untreated CPP increases the risk of premature or early-onset menopause; (d) the incidence of PCOS/hyperandrogenemia may be slightly elevated in women with a history of CPP, but overall reproductive function remains largely unaffected; (e) earlier thelarche and menarche may enhance susceptibility to breast carcinogenesis; (f) CPP contributes to an increased risk of obesity and type 2 diabetes in both genders; (g) early menarche may slightly increase the risk of coronary heart disease and ischemic strokes and (h) early pubertal timing increases the risk of depression and anxiety disorders., Conclusion: Monitoring and early diagnosis of these conditions are of paramount importance for successful management.

Background: Data about placental weight (PW) in relation to birth weight (BW) and gestational age (GA) are lacking in Arabic countries., Aims of the Study: (a) to find out the national PW standards for babies born between 37th and 42nd weeks of gestation in male and female babies born in Qatar; (b) to study the relation, if any, between PW and maternal age, gestational age (GA), birth weight (BW), and gender of the newborn., Materials and Methods: A National population-based retrospective chart review study was conducted between 1-2016 to 12-2019 (n = 80 722). Data of gestational age (GA) at delivery (in weeks), newborn birth weight (BW), PW, and gender at birth, were collected from singleton babies born between 37 th and 42nd weeks of gestation., Results: The PW ranged from 440 to 860 grams (g) with a mean of 682 ± 96 g. at term for boys and 673 ± 94 g. for girls. The mean BW was 3 036 ± 448 g and BW/PW ratio was 0.203 ± 0.026. The PW continued to increase through 41 weeks' gestation, in boys and girls with a significant decrease at the 42nd week of gestation. PW was significantly correlated with BW (r = 0.596, P: < 0.001) and GA (r = 0.15, P: <0.001) and accounted for 43.4% of the explained variability in birth weight., Conclusions: PW was a significant predictor of BW with a consistent increase in PW until the 41st week of gestation in boys and girls and a positive correlation with BW and GA.

Background: Patients with β-thalassemia major (BTM) had variable prevalence of undernutrition and abnormal body composition.  Methods: We performed an electronic search in PubMed, Scopus, Research gate, and Web of Sciences to evaluate the prevalence of nutritional disorders in patients with BTM worldwide in relation to their body composition and possible etiological factors. In addition, we reviewed the published nutritional intervention studies.  Results: 22 studies on the prevalence of undernutrition (12 countries) and 23 nutritional intervention studies were analyzed.  Undernutrition occurred in a considerable number of patients but varied greatly among different countries (from 5.2% to 70%). The lower middle income (LMI) countries (India, Pakistan, Iran, Egypt) had higher prevalence, while (high -middle and high income (Turkey, Greece, North America, USA, Canada) had lower prevalence.  Even in patients with normal BMI, abnormalities of body composition are common with decreased muscle mass, lean-body mass, and bone mineral density. 65% to 75% of them had lower energy intake with low levels of circulating nutrients, minerals (zinc, selenium, and copper), and vitamins (D, E) versus controls. Increased macro and micronutrient requirements decreased absorption and /or increased loss or excretion are etiologic factors. Undernutrition was associated with short stature and lower quality of life (QOL). High prevalence of endocrinopathies, poor transfusion regimen (tissue hypoxia), improper chelation, and lack of maternal education, represented important risk factors in the production of poor growth in weight and stature., Conclusions: Timely detection of undernutrition in patients with BTM and proper nutritional intervention could prevent growth delay and comorbidities.

Background: Lipodystrophy (LH) is one of the most common complications of subcutaneous insulin injection. Many factors are incriminated in the evolution of LH in children with diabetes type 1 (T1DM). LH may affect insulin absorption in the skin areas involved, resulting in a negative impact on blood glucose levels and glycemic variability., Patients and Methods: We calculated and evaluated the prevalence of LH in relation to possible clinical factors associated with the development of LH in a cohort of children (n =115) with T1DM using insulin pens or syringes and we studied possible predisposing factors including their age, duration of T1DM, injection technique, insulin dose/kg, degree of pain perception, and HbA1c level., Results: In our cross-sectional study, 84% of patients were using pens for insulin injection and 52.2 % of them were rotating the site of injection on daily basis. 27 % did not experience pain during an injection while 6 % had the worst hurt. 49.5 % had clinically detectable LH. Those with LH had higher HbA1c levels and more unexplained hypoglycemic events compared to those without LH (P: 0.058). The hypertrophied site was related to the preferred site of injection which was the arms in 71.9 % of the cases. Children who had LH were older with a longer duration of T1DM, rotating sites of injection less frequently, and were more frequently reusing needles compared to children without LH (P: < 0.05)., Conclusion: Improper insulin injection technique, older age, and longer duration of T1DM were associated with LH. Proper education of patients and their parents must include correct injection techniques, rotating injection sites, and minimal reuse of needles.

Aims of the Study: We evaluated the growth patterns in a cohort of infants (n = 120) born large-for-gestational-age (LGA) [birth weight (Bwt) > 4 kg] from birth to age 3 years of age in comparison with normal age and sex-matched children (WHO)., Results: LGA infants had high weight for age Z score (WAZ) at birth that decreased significantly during the first 6 months of life (by a mean of - 0.67 SD) that was followed by significant gain during the following 6 months of life (around + 0.4 SD). These children grew on a higher centile of WAZ with no significant change during the second and third years of life.  The prevalence of obesity (WAZ > 2) increased markedly from 24% at the end of their first year to 34% and 36% at the end of their second and third years of life, respectively.  The mean length for age Z score (LAZ) decreased significantly during the first 6 months (by a mean of -0.9 SD) but was maintained at high centile (> 1 SD) during the second and 3rd years.  The weight for length SDS (WLZ) increased significantly during the first 18 months of life and decreases gradually during the second half of the 2nd year and the 3rd year.   Their head circumference SDS decreased significantly in the first 6 months and then sustained around the 70th centiles (+1 SD) in the following 18 months., Conclusion: Our study showed that in LGA babies obesity increased progressively after the first year of life to reach 36% at the end of the third year. Therefore, it is important to apply the early nutritional intervention to decrease the occurrence of obesity and reduce later cardiometabolic risks.

Background: Steroids are the main drugs used for the treatment of nephrotic syndrome (NS) in children., Aim of the Study: We investigated the steroid effect on linear growth and weight gain as well as the prevalence of different metabolic components and dysglycemia in children with NS with multiple relapses for 5 years in relation to the cumulative dose of steroids. Study population and sample size: Data of 30 children with NS were analyzed retrospectively. They received prednisolone treatment as advised by international guidelines. The cumulative dose of prednisolone (CDP) over the 5 years was calculated for each child. Their growth and different metabolic criteria, including impaired fasting glucose (IFG), high LDL and cholesterol, lower HDL, and high blood pressure studied over this period and compared with the data for 66 age-matched obese non-nephrotic children., Results: The mean CDP was 100 ± 63 mg /kg/yr given over an average duration of 5 years.  The height-SDS was not affected after 3 years but decreased by -0.4 SD after 5 years. The body mass index-SDS increased from 0.65 to 0.97 and 1.1 after 3 and 5 years, respectively. Obesity and overweight increased from 25% pre-treatment to 59.2% after 5 years of treatment. After 5 years of treatment, IFG was detected in 35 %, hypertension in 40%, high LDL in 77%, and high cholesterol in 80%., Conclusion: In children with frequently relapsing NS, long-term steroid therapy was associated with a higher rate of obesity, short stature as well as the occurrence of different metabolic syndrome (MetS.

Background: In Qatar, the prevalence of metabolic syndrome (MetS) in children and adults is increasing in parallel with the markedly increasing trends in obesity rates., Objective: The aim of our study was to assess the prevalence of different components of MetS, measure plasma atherogenic indexes (AIP), and to evaluate linear growth in young obese nondiabetic children (< 5 years) in comparison to older obese children (6-12 years).  Methods:  We analysed the anthropometric and biochemical profile of 135 random sample obese children who attended to the Paediatric Clinic of Hamad Medical Centre (HGH) in Doha (Qatar) from January 2018 to December 2019., Results: A large proportion of children presented with obesity, around the age of 5 years, were obese at the end of their first year of life (63.8%) and more were obese at the 2 years of age (82.6%). Significantly rapid gain in weight and linear growth occurred during the first 6 months of postnatal life. Moreover, some metabolic risk factors and high AIP occurred more frequently in older obese children compared to young obese children., Conclusions: This study documented the early occurrence of different components of the MetS in young obese children and the progressive increase of their prevalence in older prepubertal children. Most of obese children who presented at or below 5 years of age had significant obesity and rapid linear growth during the first two years (infancy). These two findings pointed out to the necessity to impose early detection and preventive measures on a national scale.

The conventional treatment of β-thalassemia (β-TM) patients is based on the correction of anemia through regular blood transfusions and iron chelation therapy. However, allogeneic hematopoietic stem cell transplantation (HSCT) remains the only currently available technique that has curative potential. Variable frequency and severity of long-term growth and endocrine changes after conventional treatment as well as after HSCT have been reported by different centers. The goal of this mini-review is to summarize and update knowledge about long-term growth and endocrine changes after HSCT in patients with β-TM in comparison to those occurring in β-TM patients on conventional treatment. Regular surveillance, early diagnosis, treatment, and follow-up in a multi-disciplinary specialized setting are suggested to optimize the patient's quality of life (www.actabiomedica.it).

Letter to Editor.

Nutrition is one of the most important factors affecting pubertal development. Increasing demands for energy proteins and micronutrients are necessary to cope with the rapid linear pubertal growth and development, change in body composition, and increased physical activity. Adequate nutrition is a key permissive factor for the normal timing and tempo of pubertal development. Severe primary or secondary malnutrition also can adversely delay the onset and progression of puberty. The higher incidence of anorexia nervosa and bulimia in adolescents imposes a nutritional risk on pubertal development. Here we provide an overview of nutritional requirements (macronutrients and micronutrients) necessary to cope with these changes. In addition, we discuss possible nutritional interventions trials and their effects on several aspects of growth and development in undernourished and stunted adolescents, in low- and middle-income countries (LMIC), who require nutritional rehabilitation. This mini-review sums up some important findings in this important complex that links between nutrition, nutritional interventions, and pubertal development.

Introduction: Early puberty (EP) in girls is defined as the onset of thelarche that begins after 6 years and before 8 years and/or acceleration in the tempo of pubertal development. The stage of puberty and the ovarian volume at presentation and the effect of treatment with GnRH analogue (GnRHa) on final adult height are still debated., Patients and Methods: We analyzed the data of 22 girls, who presented early and fast puberty (FEP). The clinical stage of puberty, hormonal levels and the ovarian volume (OV) (measured by ovarian ultra-sonography) at presentation were studied. We recorded the effects of 3 years treatment with GnRHa on their growth in relation to their mid parental height, pubertal progression, and bone maturation., Results and Conclusion: GnRHa therapy decreased the fast progress of puberty, skeletal maturation, and GV/year. It was successful in increasing the predicted final adult height comparable to or surpassing their mid-parenteral height. A larger OV at presentation was associated with reduced Ht-SDS after 3 years of GnRHa treatment. Clearly, a definitive evaluation of the efficacy of GnRHa as treatment for EFP in girls will require expanded and concerted studies.

Background: The term double diabetes or "Hybrid Diabetes (HD)" describes diabetes with combined features of type 1 and type 2 diabetes (T2DM)., Patients and Methods: We report the clinical and biochemical characteristics of 7 children with HD and the course of their disease including the response to treatment. The data were compared to 59 children with a diagnosis of T2DM. Variables examined included age, height, weight, body mass index (BMI), triglycerides (Tg), high-density lipoprotein (HDL), and blood pressure. The Weiss criteria were used to diagnose metabolic syndrome (MetS). The atherogenic index of plasma (AIP) was calculated from the standard lipid profile. Four autoantibodies against pancreatic β-cell were measured in all patients., Results: Significant clinical and biochemical differences were detected among children with HD versus T2DM. The mean BMI of children with T2DM was significantly higher than for the HD group. At presentation, the mean C peptide level was significantly lower in HD versus T2DM group and 28% presented with diabetic ketoacidosis (DKA). The percentage of those with full criteria of MetS was significantly higher in T2DM versus HD group as well as the percentage of children with high atherogenic index. After a mean duration of 2.3 months from diagnosis, 4/7 of HD patients stopped insulin therapy and 3 patients had a marked reduction in the insulin requirement. During the follow-up (after 15 ±5 months), 5/7 HD patients required an increase in their insulin dose, one was controlled on a markedly low dose of basal insulin and the last patient did not require any insulin therapy for 40 months., Conclusion: Appropriate assessment of HD is necessary for early and correct diagnosis. Increasing awareness of HD among the general population and primary care practitioners is necessary for successfully and properly treating this complex disease.

Juvenile ovarian granulosa cell tumors (JGCTs) are described infrequently in pediatrics, and their finding in infants is exceptional. We highlight the presenting symptoms, radiologic images, operative management, and histopathologic findings of a 9-month-old female with isosexual pseudopuberty. An updated revision of literature in infants below the age of 12 months is also reported.

In Qatar, the prevalence of metabolic syndrome (MetS) in children and adolescents is increasing in parallel with the increasing trends in obesity rates. In Qatar, the prevalence of obesity is relatively high., Aim: To assess the prevalence of the different components of MetS and plasma atherogenic indexes (AIP) in obese children and adolescents and to compare their anthropometric data with their parents (genetic background)., Methodology: We analysed the anthropometric and biochemical profile of 91 randomly selected obese children and young adolescents (age: 10.5 ± 2.7 years) who attended to the Paediatric Clinic of Hamad Medical Center (HGH) in Doha (Qatar) form January 2017 to December 2019.  Data recorded included: age, gender, weight and height, body mass index (BMI), systolic and diastolic blood pressures. Biochemical data including lipid profile, glycated hemoglobin (A1C), and alanine transferase level (ALT) were recorded and compared with normal lab data for the same age group., Results: Obese children had a high prevalence of dyslipidaemia, dysglycemia and non-alcoholic fatty liver disease (NAFLD). Using the modified adult MetS criteria, MetS was present in 30.2% of this obese cohort. AIP was high in 76.7% of the patients. Standing height standard deviation score (Ht-SDS) of obese children was significantly higher compared to Ht-SDS of their parents as well as to mid-parental height SDS (MPHt-SDS) (-0.37± 0.79). The BMI and BMI-SDS did not differ between obese children and their parents., Conclusion: The occurrence of MetS in 30% of our obese non-diabetic children and young adolescents pointed out to the necessity to impose early detection and preventive measures on a national scale.

Sickle cell disease (SCD) is traditionally associated with growth failure and delayed puberty. Wasting and stunting are still prevalent in children and adolescents with SCD, especially in developing countries. In addition, sperm abnormalities are frequent in males with SCD, with high rates of low sperm density, low sperm counts, poor motility, and increased abnormal morphology.  Severe anemia, vaso-occlusive attacks with ischemic injury to different organs including the pituitary gland and testis, and nutritional factors are incriminated in the pathogenesis of defective growth, puberty, and spermatogenesis. There is great phenotypic variability among patients with SCD. The variability in the clinical severity of SCA can partly be explained by genetic modifiers, including HbF level and co-inheritance of α-thalassemia. In the past, severe disease led to early mortality. Advancements in treatment have allowed patients with SCD to have a longer and better quality of life. For most patients, the mainstays of treatment are preventive and supportive. For those with severe SCD, three major therapeutic options are currently available: erythrocyte transfusion or exchange, hydroxyurea, and hematopoietic stem cell transplantation. In this mini-review, the authors tried to recognize, delineate, and update knowledge on abnormalities due to SCD from those created by the use of different treatment modalities.

Objectives: This controlled trial investigated the effects of energy-dense pediatric oral nutritional supplements ONS versus standard ONS in pediatric patients requiring oral nutritional support for low body mass index (BMI) or weight gain per day (WGD) below the average for age and sex.  Patients and Methods: 34 children and adolescents (mean age 10.2 years) with faltering growth requiring ONS were randomized to cONS (n =22) or sONS (n = 12) for a year. We recorded their weight (WT), height (HT) and calculated height growth velocity (GV), Ht-SDS, BMI, WGD, every 3 months for a year.  Results: The WGD, height growth velocity (GV: cm/year), and Ht-SDS increased significantly, in both groups, during the year of ONS. The use of the cONS resulted in significantly greater mean total WGD and BMI-SDS after 6 months and 1 year, compared to the sONS group. The increase in IGF1-SDS was significantly higher in the cONS groups versus the sONS group. Moreover, the WGD was correlated significantly with the height GV during the year of ONS intake., Conclusions: ONS improved the growth of underweight old children and adolescents who had no systemic illness. There was a significantly higher WGD and BMI-SDS in the group on cONS compared to those on sONS. In both groups, long-term use of ONS significantly improved Ht-SDS.

Objectives: Some idiopathic short stature (ISS) patients may have varying degrees of insulin-like growth factor 1 (IGFI) deficiency. Others with growth hormone deficiency (GHD) (peak GH < 7 ng/dL after provocation) have normal IGFI levels. Do children with ISS or those with GHD with variable pretreatment IGFI standard deviation score (IGFISDS) have different IGFI and growth responses to recombinant human growth hormone (rhGH) therapy?, Methods: We studied the effect of GH therapy (0.035-0.06 mg/kg/day) on linear growth and weight gain per day (WGPD) in children with ISS (n=13) and those with GHD (n=10) who have low pretreatment IGFISDS (IGF SDS < -1.5) and compared them with age-matched prepubertal children with ISS (n=10) and GHD (n=17) who had normal pretreatment IGFISDS. An untreated group of children with ISS (n=12) served as a control group., Results: At presentation, the height standard deviation score (HtSDS) of children with ISS who had low pretreatment IGFISDS was significantly lower compared to the normal IGFI group. The age, body mass index (BMI), BMISDS, peak GH response to clonidine provocation and bone age did not differ between the two study groups. After 1 year of treatment with rhGH (0.035-0.06 mg/kg/day) IGFISDS increased significantly in both groups (p<0.05). Both had significantly increased HtSDS (catch-up growth). The increase in the HtSDS and WGPD were significantly greater in the lower pretreatment IGFISDS group. The IGFSDS, BMISDS, HtSDS and difference between HtSDS and mid-parental HtSDS were significantly greater in the rhGH treated groups vs. the not treated group. In the GHD groups (normal and low IGFISDS), after 1 year of GH therapy (0.03-0.05 mg/kg/day), the HtSDS increased significantly in both, (p<0.01). The WGPD and increment in BMI were significantly greater in children who had low pretreatment IGFISDS. There was a significant increase in the IGFSDS in the two treated groups (p<0.05), however, the WGPD was greater in the pretreatment low IGFISDS., Conclusions: IGFI deficiency represents a low anabolic state. Correction of IGFI level (through rhGH and/or improved nutrition) in short children (ISS and GHD) was associated with increased linear growth and WGPD denoting significant effect on bone growth and muscle protein accretion., (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)

Introduction: Hyperinsulinemic Hypoglycaemia (HH) is the most common cause of recurrent and persistent hypoglycemia in the neonatal period. Cortisol and GH play an important role as a counterregulatory hormone during hypoglycemia. Both antagonize the peripheral effects of insulin and directly influences glucose metabolism Patients and Methods: We studied cortisol and GH secretion in newborn infants with HH during spontaneous hypoglycemia. In addition, their basal ACTH level and cortisol response to a standard dose ACTH was performed., Results: Nine newborns with HH were studied during the first 2 weeks of life. During HH, their mean glucose concentration was 1.42 ± 0.7 mmol/L, mean beta hydroxybutyrate level was 0.08 ± 0.04 mmol/L, and mean serum insulin level was 17.78 ± 9.7 µU/mL. Their cortisol and GH levels at the time of spontaneous hypoglycemia were 94.7 ± 83.1 nmol/L and 82.4 ± 29 m IU/L respectively. They had relatively low level of ACTH (range: 14 :72 pg/ml, mean: 39.4 ± 20 pg/mL) during hypoglycemia. All infants had GH concentration > 20 mIU/L at the time of hypoglycemia. All infants underwent ACTH test. Their basal serum cortisol levels did not differ compared to cortisol levels during hypoglycemia, and all had a normal peak cortisol response (> 500 nmol/L) in response to i.v. ACTH stimulation test., Conclusion: Infants with HH have low cortisol response to spontaneous hypoglycemia with normal response to exogenous standard-dose ACTH. Checking hypothalamic-pituitary axis (HPA) axis later in infancy using low dose ACTH may be useful to diagnose persistent HPA abnormalities in these infants. All HH infants had appropriate elevation of GH during hypoglycemia.

Anorexia nervosa (AN) is a kind of malnutrition resulting from chronic self-induced starvation. The reported associated endocrine changes (adaptive and non-adaptive) include hypothalamic amenorrhea, a nutritionally acquired growth hormone resistance with low insulin like growth factor-1 (IGF-1) secretion, relative hypercortisolemia, decreased leptin and insulin concentrations, and increased ghrelin, PYY and adiponectin secretion. The combined effect of malnutrition and endocrinopathy may have deleterious effects on multi-organs including bone, gonads, thyroid gland, and brain (neurocognition, anxiety, depression, and other psychopathologies). The mammalian target of rapamycin (mTOR) is a kinase that in humans is encoded by the mTOR gene. Recent studies suggest an important role of mTOR complex in integration of nutrient and hormone signals to adjust energy homeostasis. In this review, we tried to elucidate the role/s of mTOR as critical mediator of the cellular response in anorexia nervosa.

Linear growth failure (stunting) in childhood is the most prevalent form of undernutrition globally. The debate continues as to whether children who become stunted before age 24 months can catch up in growth and cognitive functions later in their lives. The potentially irreparable physical and neurocognitive damage that accompanies stunted growth is a major obstacle to human development. This review aims at evaluation and summarizing the published research covering the different aspects of stunting from childhood to adulthood.

Metformin is a widely used drug that results in clear benefits in relation to glucose metabolism and diabetes-related complications. The global increase in the prevalence of obesity among children and adolescents is accompanied by the appearance and increasing prevalence of insulin resistance, prediabetes, and type 2 diabetes mellitus (T2DM). In addition, children, and adolescents with premature pubarche and polycystic ovary have considerable degree of insulin resistance. The insulin sensitizing actions of metformin encouraged many investigators and physician to use it as the key drug in these conditions for both prevention and treatment. However, long term-controlled studies are still required to assess the degree and duration of effectiveness and safety of using metformin. This review tries to update physicians about the main and the new therapeutic perspectives of this drug.

Type 1 diabetes mellitus (T1DM) is rare in infants and toddlers and is usually associated with a relatively high mortality when complicated with diabetic ketoacidosis (DKA). In infants, the classical symptoms of DKA are atypical and therefore many infants with DKA are mistreated for infections. We report a case of DKA precipitated by COVID-19 in an 8-month-old infant with newly diagnosed diabetes mellitus. This case is reported in view of its rarity and originality. The relation between T1DM and COVID19 infection is discussed.

Background: Individuals with Down syndrome (DS) are at an increased risk of developing thyroid disease, primarily autoimmune, with a lifetime prevalence ranging from 13% to 63%. Unfortunately, there are few studies systematically examining the frequency of thyroid disease in very young children., Aim of the Study: The aim of the present study was to investigate the prevalence of different thyroid dysfunctions (TD) in a cohort of infants and children with DS and the growth parameters in subjects with normal versus abnormal thyroid function, followed for 3 years., Patients and Methods: All children (n = 102; 48 males and 54 females, aged 2.3±3 years) with the diagnosis of DS who were seen at the General Pediatric Clinic of Hamad General Hospital in Doha (Qatar) from 2014 to 2018 were enrolled in our study. We recorded thyroid function and linear growth parameters [BMI, length/height SDS (Ht-SDS) and weight gain/day] and divided them into 3 groups according to their thyroid function. Group 1: (n = 36 subjects) with normal free T4 (FT4) and TSH; Group 2 (n = 44 subjects) with high TSH >5 and <12 mIU/L, and normal FT4, and Group 3 (n = 22 subjects) with TSH >12 mIU/L and/or FT4 <9 pmol/L. We also compared linear growth parameters in subjects with DS and thyroid dysfunction versus those with normal thyroid function at diagnosis and after treatment with L- thyroxine, for an average of 3 years., Results: In infants with DS (<1 year of age; n = 47, mean age: 5±3.5 months) we documented a higher prevalence of hypothyroidism (HT) (7/47 = 14.9%), both primary (5/47; 10.6%) and secondary (2/47; 4.3%). Subclinical hypothyroidism and positive thyroid antibodies were found in (13/47; 27.7%) and (9/47;19%, respectively). Before treatment with L-thyroxine, DS infants of Group 3 had significantly lower BMI-SDS but were not significantly shorter compared to other two Groups (p= 0.03 and p =0.14, respectively). After an average of 3 years of treatment the BMI- SDS and Ht-SDS did not differ among the treated and not treated infant groups. In the older group (>1 year; n=55; mean age: 5.5±3.3 years) primary HT was detected in 7/55 (12.7%). Subclinical HT was diagnosed in 20/55 (36.4%) and positive thyroid antibodies were found in 26/55 (47.3%). Before treatment with L-thyroxine, using the CDC growth charts for DS, we found that the groups with high TSH (Groups 2 and 3) were significantly shorter and heavier compared to the group with normal TSH (Group 1). After treatment with L-thyroxine, the Ht-SDS and Wt-SDS did not differ between the two groups. The linear growth of those diagnosed early during the first year of life was compared to growth parameters of children who were diagnosed with thyroid dysfunction later in life., Conclusion: Our data provided more evidence to support the findings that L- thyroxine treatment can improve growth of infants and young DS children with high TSH (>5 mIU/L), especially in those with TSH >12 mIU/L.

Arthrogryposis multiplex congenital, the occurrence of multiple joint contractures at birth, can in some cases be accompanied by insufficient myelination of peripheral nerves, muscular hypotonia, reduced tendon reflexes, and respiratory insufficiency. Recently mutations in the CASPR/CNTN1 complex have been associated with similar severe phenotypes and CNTNAP1 gene mutations, causing loss of the CASPR protein, were shown to cause severe, prenatal onset arthrogryposis multiplex congenita in four unrelated families. Here we report a consanguineous Arab family from Qatar with three children having an early lethal form of arthrogryposis multiplex congenita and a novel frameshift mutation in CNTNAP1. We further expand the existing CNTNAP1-associated phenotype to include profound cerebral and cerebellar atrophy., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

Objectives: Reduction of cognitive function is a possible side effect after the use of cardiopulmonary bypass (CPB) during cardiac surgery. Since it has been proven that piracetam is cerebroprotective in patients undergoing coronary bypass surgery, we investigated the effects of piracetam on the cognitive performance of patients undergoing open heart surgery., Methods: Patients scheduled for elective open heart surgery were randomized to the piracetam or placebo group in a double-blind study. Patients received 12 g of piracetam or placebo at the beginning of the operation. Six neuropsychological subtests from the Syndrom Kurz Test and the Alzheimer's Disease Assessment Scale were performed preoperatively and on day 3, postoperatively. To assess the overall cognitive function and the degree of cognitive decline across all tests after the surgery, we combined the six test-scores by principal component analysis., Results: A total of 88 patients with a mean age of 67 years were enrolled into the study. The mean duration of CPB was 110 minutes. Preoperative clinical parameters and overall cognitive functions were not significantly different between the groups. The postoperative combined score of the neuropsychological tests showed deterioration of cognitive function in both groups (piracetam: preoperative 0.19 ± 0.97 vs. postoperative -0.97 ± 1.38, p <0.0005 and placebo: preoperative -0.14 ± 0.98 vs. postoperative -1.35 ± 1.23, p <0.0005). Patients taking piracetam did not perform better than those taking placebo, and both groups had the same decline of overall cognitive function (p = 0.955)., Conclusion: Piracetam had no cerebroprotective effect in patients undergoing open heart surgery. Unlike the patients who underwent coronary surgery, piracetam did not reduce the early postoperative decline of neuropsychological abilities in heart valve patients.

Background: Reduction of cognitive function is a possible side effect after cardiac surgery using cardiopulmonary bypass. We investigated the cerebroprotective effect of piracetam on cognitive performance in patients undergoing coronary artery bypass surgery under cardiopulmonary bypass., Material/methods: Patients scheduled for elective, primary and isolated coronary bypass surgery were randomised either to piracetam or placebo group. The study was performed in a double blind fashion. Patients received either 12 g piracetam or placebo at the beginning of the operation. Six neuropsychological subtests from the Syndrom Kurz Test and the Alzheimer's Disease Assessment Scale were performed preoperatively and on the third postoperative day. To assess the overall cognitive function and the degree of cognitive decline across all tests after surgery we combined the six test-scores by principal component analysis., Results: A total number of 120 patients were enrolled into the study. Preoperative overall cognitive function were not significantly different between the groups. The postoperative combined score of the neuropsychological tests showed a deterioration of cognitive function in both groups (placebo-pre: -0.06+/-0.99 vs placebo-post: -1.38+/-1.11; p<0.0005 and piracetam-pre: 0.06+/-1.02 vs piracetam-post: -0.65+/-0.93; p<0.0005). However, the piracetam patients performed significantly better compared to the placebo patients after the operation and had a less decline of overall cognitive function (p<0.0005)., Conclusions: Piracetam has a cerebroprotective effect in patients undergoing coronary artery bypass surgery with the use of cardiopulmonary bypass. It reduces an early postoperative substantial decline of neuropsychological abilities.