Preclinical and clinical data suggest the possibility of neurotoxicity following exposure of young children to general anesthetics with subsequent behavioral disturbances. The aim of the study was to ...determine the overall effect of repeated general anesthesia on behavior and emotions of young children aged 1½-5 years old, compared to healthy children.
Thirty-five children underwent repeated anesthesia and surgery were matched with the same number of healthy children who attended vaccination clinic, as a control group. Both groups were administered the child behavior checklist (CBCL) 1½-5 years and Diagnostic and Statistical Manual of Mental Disorders (DSM) oriented scale. Behavior data were collected through a semi-structured questionnaire.
The CBCL score revealed that children with repeated anesthesia were at risk to become anxious or depressed (relative risk RR; 95% confidence interval CI = 11 1.5-80.7), to have sleep (RR; 95% CI = 4.5 1.1-19.4), and attention problems (RR; 95% CI = 8 1.1-60.6). There was no difference in the risk between the two groups regarding emotionally reactive, somatic complaints, withdrawn problems, aggressive behavior, internalizing or externalizing problems. On DSM scale, children with repeated anesthesia were at risk to develop anxiety problems (RR; 95% CI = 3.7 1.1-12.0), and attention deficit/hyperactivity problems (RR; 95% CI = 3 1.1-8.4). There was no difference in the risk between the two groups regarding affective, pervasive developmental and oppositional defiant problems.
Young children who undergone repeated surgical procedures under general anesthesia were at risk for subsequent behavioral and emotional disturbances. Proper perioperative pain management, social support, and avoidance of unpleasant surgical experiences could minimize these untoward consequences.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Background
Congenital adrenal hyperplasia (CAH) due to autosomal recessive 21-hydroxylase deficiency (21-OHD) is caused by defects in the CYP21 (CYP21A2) gene. Several mutations have been identified ...in the CYP21 (CYP21A2) gene of patients with 21-OHD. We aimed at determining the frequency of these mutations among a group of Egyptian patients and studying the genotype–phenotype correlation.
Methods
Forty-seven patients with CAH due to 21-OHD from 42 different families diagnosed by clinical and hormonal evaluation and classified accordingly into salt wasting (SW) and simple virilizing (SV) phenotypes were enrolled. Their ages ranged between 1.78 and 18.99 years. Molecular analysis of the CYP21 (CYP21A2) gene was performed for the detection of eleven common mutations: P30L, I2 splice (I2 G), Del 8 bp E3 (G110del8nt), I172N, cluster E6 (I236N, V237E, M239K), V281L, L307 frameshift (F306 + T), Q318X, R356W, P453S, R483P by polymerase chain reaction (PCR) and reverse hybridization.
Results
Disease-causing mutations were identified in 47 patients, 55.31% of them were compound heterozygous. The most frequent mutations were I2 splice (25.43%), followed by cluster E6 (16.66%) and P30L (15.78%). Two point mutations (P453S, R483P) were not identified in any patient. In the SW patients, genotypes were more compatible with their phenotypes.
Conclusion
Molecular characterization should be considered along with clinical and biochemical diagnosis of CAH since it could confirm the diagnosis, outline the treatment strategy and morbidity, and ensure proper genetic counseling.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Abstract
Background
Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient- or clinician-reported sick day episodes (SDE) is ...less clear.
Methods
Data on children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, of which 7 were Low or Middle Income Countries (LMIC) and 11 were High Income (HIC), were collected from the International CAH Registry and analyzed to examine the clinical factors associated with SDE and AC.
Results
A total of 518 children—with a median of 11 children (range 1, 53) per center—had 5388 visits evaluated over a total of 2300 patient-years. The median number of AC and SDE per patient-year per center was 0 (0, 3) and 0.4 (0.0, 13.3), respectively. Of the 1544 SDE, an AC was reported in 62 (4%), with no fatalities. Infectious illness was the most frequent precipitating event, reported in 1105 (72%) and 29 (47%) of SDE and AC, respectively. On comparing cases from LMIC and HIC, the median SDE per patient-year was 0.75 (0, 13.3) vs 0.11 (0, 12.0) (P < 0.001), respectively, and the median AC per patient-year was 0 (0, 2.2) vs 0 (0, 3.0) (P = 0.43), respectively.
Conclusions
The real-world data that are collected within the I-CAH Registry show wide variability in the reported occurrence of adrenal insufficiency–related adverse events. As these data become increasingly used as a clinical benchmark in CAH care, there is a need for further research to improve and standardize the definition of SDE.
It is a common knowledge that GH exhibits a large number of metabolic effects, involving lipid and glucose homeostasis. The aim of the study was to investigate the effect of one year GH therapy on ...metabolic parameters and adipokines in GH deficient (GHD) children. Sixteen prepubertal children (11 M and 5 F) with complete GHD (age range: 3.4-14.7 years) and 20 (13 M and 7 F) age and sex-matched healthy children (age range: 4.6-12.3 years) were studied. Blood was collected from patients before starting GH therapy (0.025 mg/kg/day) and one year later, and from healthy children to measure adiponectin, leptin, osteoprotegerin, resistin, interleukin (IL)-6, tumor necrosis factor (TNF)-α levels, and other glucose and lipid metabolism parameters. Adiponectin and resistin levels were significantly higher (49980 ng/ml vs. 14790 ng/ml and 11.0 pg/ml vs. 6.3, respectively) in GHD children before GH therapy than in controls. Serum IGF-I levels (p=0.0001) and height SDS (p<0.0001) significantly increased after 12 months' of GH therapy. There was a loss of body fat reflected by a significant decline in tricep (p=0.0003) and subscapular skinfold thickness SDS (p=0.0023). After 12 months, there was a significant rise in insulin (p=0.0052) and leptin levels (p=0.0048) and a significant decrease in resistin (p=0.0312) and TNF-α (p=0.0137). We observed that lipid and glucose metabolisms are only slightly affected in GHD children. Growth hormone replacement therapy affects some factors, such as leptin, resistin and fat mass, suggesting that also in children, GH treatment has a role in the regulation of factors secreted by adipose tissue.
Noonan‐like/multiple giant cell lesion syndrome is a rare condition with phenotypic overlap with Noonan syndrome (NS) and cherubism. PTPN11 gene mutations were described in several individuals with ...this phenotype, and it is recently considered as a variant phenotype of NS. Gain‐of‐function mutations in the SOS1 gene were recently described as the second major cause of NS. Here, we report for the first time the involvement of SOS1 gene in a family with the Noonan‐like/multiple giant cell lesion phenotype.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Sickle cell disease (SCD) in children with a history of repeated hospitalization is distressing for children as well as their parents leading to anxiety and has negative effects on the psychological ...state of children and their families.
The aim of the study was to determine the overall effect of SCD on the behavior of young children age 1½ to 5 years old who had repeated history of hospitalization, compared to a control group of healthy children attended a vaccination clinic.
Thirty-five children of age 1½ to 5 years who have SCD and repeated history of hospitalization were recruited from pediatric clinic as the study group and matched with same number of healthy children who attended vaccination clinic, as a control group. Both groups were administered the child behavior checklist (CBCL) 1½ to 5 years and diagnostic and statistical (DSM)-oriented scale. Behavior data were collected through a semi-structured questionnaire.
CHILDREN WHO HAVE SCD HAD STATISTICALLY SIGNIFICANT BEHAVIORAL CHANGES ON CBCL COMPARED TO THE CONTROL GROUP: Anxiety/depression (65.2 vs. 55.1; P < 0.001), somatic complaint (66.7 vs. 54.4; P < 0.001) withdrawn (63.4 vs. 53.2; P < 0.001), aggressive behavior (60.4 vs. 56; P=0.04), and internalizing symptoms (64.7 vs. 51.5; P < 0.001), respectively. The DSM scale showed that children with SCD scored significantly higher in pervasive developmental disorder compared to the control group (60.9 vs. 53.9; P < 0.001) respectively.
Children with SCD who had history of repeated hospitalization are at an increased risk of developing behavioral problems. Psychological counseling, social support, and proper pain management could minimize these behavioral consequences.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
COVID-19 and Diabetes Mellitus: A Complex Interplay Koneru, Gopala; Sayed, Hager H; Abd-elhamed, Nayera A ...
Journal of pure & applied microbiology : an international research journal of microbiology,
6/2021, Volume:
15, Issue:
2
Journal Article
Peer reviewed
Open access
COVID-19 pandemic, which caused by the newly emerged severe acute respiratory syndrome coronavirus-2 (SARS- CoV-2), puts the entire world in an unprecedented crisis, leaving behind huge human losses ...and serious socio-economical damages. The clinical spectrum of COVID-19 varies from asymptomatic to multi-organ manifestations. Diabetes mellitus (DM) is a chronic inflammatory condition, which associated with metabolic and vascular abnormalities, increases the risk for SARS-CoV-2 infection, severity and mortality. Due to global prevalence, DM effect on COVID-19 outcomes as well as the potential mechanisms by which DM modulates the host-viral interactions and host-immune responses are discussed in this review. This review also highlights the effects of anti-diabetic drugs on treatment of SARS-CoV-2 infection and vice versa.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Our study aimed to assess uterine development in Turner syndrome patients and its relation to dose and type of estrogen therapy; and karyotype. Pelvic ultrasound was used to assess uterine size and ...shape, and ovarian volume in 40 Turner syndrome patients. Information on hormone replacement therapy was collected from patients’ notes. Among the 40 patients studied, 57.5% started estrogen therapy and 30% were taking progestins. Sixty-five per cent had immature uterus, 17.5% had fully mature uterus and 17.5% had transitional uterus. Uterine volume was associated with age (p<0.001), height (p=0.002), weight (p=0.001), years of estrogen use (p<0.001), estrogen dose (p=0.016), current estrogen use (p=0.001) and Tanner breast stage (p<0.001). Uterine volume was not affected by the type of estrogen used (p=0.40) and karyotype (p=0.40). Patients with Turner syndrome treated with estrogen (of adequate dose and duration) may attain a normal, mature uterine size and configuration, even at a late start of hormone replacement therapy and regardless of karyotype.
α-Klotho is a transmembrane protein that can be cleaved and act as a circulating hormone (s-klotho). s-Klotho serum levels seem to reflect growth hormone (GH) secretory status. We investigated the ...role of s-klotho as a reliable marker of GH secretion in short children and the factors influencing its secretion.
We enrolled 40 short Egyptian children (20 GH deficiency GHD and 20 idiopathic short stature ISS). They underwent a pegvisomant-primed insulin tolerance test (ITT) and were accordingly reclassified as 16 GHD and 24 ISS. The samples obtained before and 3 days after pegvisomant administration, prior to the ITT, were used for assaying insulin-like growth factor (IGF)-I and s-klotho.
IGF-I and s-klotho serum levels were not significantly different (p=0.059 and p=0.212, respectively) between GHD and ISS. After pegvisomant, a significant reduction in IGF-I and s-klotho levels was found in both groups. s-Klotho significantly correlated only with IGF-I levels in both groups.
s-Klotho mainly reflects the IGF-I status and cannot be considered a reliable biomarker for GH secretion in children.
Abstract Importance Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We ...hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development. Objective This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. Design and participants This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. Results TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. Conclusions and relevance A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life.
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