Alternating hypothyroidism and hyperthyroidism is a rare phenomenon, especially among pediatric patients. It is usually related to simultaneous, unbalanced presence of stimulating and blocking ...thyroid stimulating hormone receptor antibodies (TRAbs). Herein we describe thyroid stimulating hormone (TSH) and thyroid hormone fluctuations in an adolescent boy with negative TRAbs. A 12-year-old healthy boy exhibited alternating thyroid function, with several switches between hypothyroidism and hyperthyroidism during almost six years of follow-up. He had persistently elevated thyroid peroxidase antibodies, while TRAbs were repetitively negative. Due to a mild clinical presentation, most of the time he did not require any medication. This case contributes to the spectrum of alternating hypothyroidism and hyperthyroidism in the pediatric age and raises the question of mechanisms involved in fluctuating thyroid function. Therapeutic decisions should be individualized and guided by clinical manifestations and thyroid function tests, irrespective of the underlying pathophysiology.
To examine the characteristics of ambulatory blood pressure (ABP) including blood pressure variability (BPV) and its association with albuminuria in type 1 diabetic (T1D) children and to identify ...potential predictors of high-normal albuminuria and microalbuminuria.
ABP monitoring was performed in 201 T1D children and adolescents (mean age, 14.7±3.8 years) with T1D duration over 1 year. The level of albuminuria was assessed as the albumin/creatinine ratio (ACR) and patients were further classified as low-normal, high-normal or microalbuminuria.
Fifteen T1D children (7.5%) were hypertensive using office blood pressure (BP) and 10 (5%) according to ABP. T1D subjects had elevated 24-hour systolic BP (SBP) and diastolic BP (DBP) (+0.2 and + 0.3 standard deviation score SDS) and nighttime SBP and DBP (+0.6 and +0.8 SDS) compared to reference values. Patients with microalbuminuria had significantly higher 24-hour, daytime and nighttime DBP compared to normoalbuminuric subjects. There was a high percentage of nondippers (74.1%). Nighttime diastolic BPV was significantly higher in subjects with high-normal compared to low-normal albuminuria (p=0.01). A weak correlation was found between ACR and daytime DBP SDS (r=0.29, p<0.001 and nighttime DBP SDS (r=0.21, p=0.003). Age and nighttime diastolic BPV were predictors of high-normal albuminuria while nighttime DBP was a strong predictor for microalbuminuria.
T1D children have impaired BP regulation although most of them do not fulfill the criteria for sustained hypertension. There is an association between diastolic ABP and diastolic BPV with rising levels of albuminuria pointing to a clear connection between BP and incipient diabetic nephropathy.
Sensors for continuous glucose monitoring (CGM) in intercellular fluid are used as a contemporary method to achieve better control in type 1 diabetes mellitus (DM), which is best shown through lower ...glycated hemoglobin (HbA1c) levels.The aim of this study was to assess how many of our patients used CGM (parents were solely financing all the cost of the device) and what was the effect of CGM on the control of DM. Data were retrospectively collected from medical records of patients actively treated at the Division of Endocrinology, Diabetology, Pulmonology and Allergology, Department of Pediatrics, Sestre milosrdnice University Hospital Center. The t-test was used for independent samples to compare the mean levels of HbA1c before and after the inclusion of CGM. CGM was used by 81 (32.1%) of our patients with type 1 DM, of which 43 met the inclusion criteria. The mean HbA1c level 6 months before the introduction of CGM was 8.2%±1.9 and after 12 months of CGM use it was 7.4%±1.2, which was a statistically significant improvement (p=0.026). Furthermore, our results demonstrated that the greatest improvement in HbA1c level was recorded in the groups of young adults (18-25 years) and youngest children (<12 years). We confirmed the efficacy of CGM in achieving better control of type 1 DM by significantly improving HbA1c levels in a population of highly motivated patients.
Characteristics of the glucose response during oral glucose tolerance test (OGTT) may reflect differences in insulin secretion and action. The aim was to examine whether timing of the glucose peak, ...shape of the glucose curve and their combination could be indicators of beta-cell dysfunction in obese/severely obese adolescents with normal glucose tolerance (NGT).
Data from 246 obese/severely obese adolescents who completed OGTT were reviewed. Out of 184 adolescents with NGT, 174 could be further classified into groups based on timing of the glucose peak (early/30 minutes vs late/≥60 minutes) and shape of the glucose curve (monophasic vs biphasic). Groups were compared with respect to insulin sensitivity (whole body insulin sensitivity index - WBISI), early-phase insulin secretion (insulinogenic index - IGI) and beta-cell function relative to insulin sensitivity (oral disposition index - oDI).
Late glucose peak (p=0.004) and monophasic glucose curve (p=0.001) were both associated with lower oDI after adjustment for age, sex, puberty stage and body mass index z-score. Among obese/severely obese adolescents with NGT, those with coexistent late glucose peak and monophasic glucose curve had lower oDI than those with early glucose peak and biphasic glucose curve (p=0.002). Moreover, a combination of late glucose peak and monophasic glucose curve was the most powerful predictor of the lowest oDI quartile odds ratio (OR): 11.68, 95% confidence interval: 3.048-44.755, p<0.001.
Late timing of the glucose peak, monophasic shape of the glucose curve and, in particular, a combination of those characteristics during OGTT may indicate early beta-cell dysfunction in obese/severely obese adolescents with NGT.
Adrenal hemorrhage is a rare clinical entity in the neonatal period, with an incidence of 1.7-2.1/1000 births. It is more often diagnosed on the right side, whilst bilateral hemorrhage occurs in ...10%-15% of cases. Clinical presentation shows a wide range of symptoms, from the signs of adrenal insufficiency to asymptomatic course of illness with incidental finding of changes on testing. Neonatal jaundice due to hemolysis of hemorrhagic content often is an accompanying sign. We present a male neonate born at term, with early neonatal jaundice of unknown cause and without evi-dence of perinatal infection. Ultrasound of the urinary tract revealed hypoechoic formations in the upper poles of both kidneys, confirmed by magnetic resonance imaging of the abdomen. Clinical and laboratory test results showed no signs of adrenal insufficiency. There was no confirmation of em-bryonic tumor or neuroblastoma. Ultrasound of the urinary tract as an available and noninvasive test has its place in the treatment of early neonatal jaundice of unknown cause. Additional invasive treat-ment and unnecessary laparotomy can be avoided with ultrasound monitoring of the formation re-gression.
- Prader-Willi syndrome (PWS) is the most common cause of morbid obesity in childhood. It is the consequence of the lack of expression of genes on the paternally inherited 15q11.2-q13 region. ...Hyperphagia, obesity, short stature, psychomotor retardation and deterioration of behavior predominate in clinical presentation. Recombinant human growth hormone (rhGH) therapy, along with restriction of caloric intake, has become the mainstay in the management of PWS patients. Anthropometric parameters (height, body mass index (BMI)), therapy effect on carbohydrate and lipid metabolism, and occurrence of side effects were monitored in four children with PWS treated with rhGH for ≥2 years at doses of up to 1 mg/m
/day. During the follow-up, the height standard deviation score (SDS) increased in comparison with baseline values, and after ≥2 years of treatment with rhGH it was within the reference range for the general children population. BMI SDS decreased after the first year of treatment, but thereafter increased again; still, the level of BMI SDS was much better in comparison with most children with PWS of the same age and gender. RhGH therapy had no negative effect on glucose and lipid metabolism, nor caused any other adverse effect. Therapy including a customized diet for PWS, along with rhGH therapy, provided a satisfactory growth rate and prevented development of morbid obesity without side effects. This treatment approach would ensure transition of a greater number of PWS patients into adult care, where the multidisciplinary approach in care should be continued.
Common complex diseases are influenced by both genetic and environmental factors. Many genetic factors overlap between various autoimmune diseases. The aim of the present study is to determine ...whether four genetic variants known to be risk variants for several autoimmune diseases could be associated with an increased susceptibility to type 1 diabetes mellitus.
We genotyped four genetic variants (rs2358817, rs1049550, rs6679356, rs9865818) within VTCN1, ANXA11, IL12RB2 and LPP genes respectively, in 265 T1DM family trios in Croatian population. We did not detect association of these polymorphisms with T1DM. However, quantitative transmission disequilibrium test (QTDT, orthogonal model) revealed a significant association between the age of onset of T1DM and IL12RB2 rs6679356 variant. An earlier onset of T1DM was associated with the rs6679356 minor dominant allele C (p = 0.005). The association remained significant even after the Bonferroni correction for multiple testing and permutation.
Variants originally associated with juvenile idiopathic arthritis (VTCN1 gene), sarcoidosis (ANXA11 gene), primary biliary cirrhosis (IL12RB2 gene) and celiac disease (LPP gene) were not associated with type 1 diabetes in our dataset. Nevertheless, association of IL12RB2 rs6679356 polymorphism with the age of T1DM onset suggests that this gene plays a role in defining the time of disease onset.
Abstract
Objectives
The objectives of this study were to analyze ambulatory blood pressure (ABP) data in office normotensive obese children, to determine the prevalence and characteristics of masked ...hypertension (MH) and to investigate the impact of parental hypertension (PH) on ABP.
Methods
Seventy-nine obese and 35 normal weight children were enrolled. Each weight group was further divided in accordance with the presence of PH. ABP was recorded in an outpatient setting.
Results
Obese children had higher systolic ABP (p<0.05) and heart rate (p<0.001) compared with normal weight children. In obese children with PH, only nighttime systolic ABP (p=0.01) was higher compared with obese without PH, whereas normal weight children with PH had higher 24 h and daytime systolic and diastolic BP (all p<0.05) and nighttime DBP (p<0.001) compared with those without PH. PH but not obesity was associated with nondipping phenomenon. Prevalence of MH in the whole group was 23.6% being significantly higher in obese than in nonobese subjects (31.6 vs. 5.7%; p=0.0026) as well as in obese subjects with PH compared with obese subjects without PH (48.7 vs. 15%; χ
2
=10.37; p=0.001). MH was diagnosed more frequently in obese with high-normal office BP compared with obese with normal office BP, although it did not reach statistical significance (50 vs. 26.2%; χ
2
=3.631; p=0.056). In the normal weight group, neither PH nor office BP category had an impact on the prevalence of MH.
Conclusions
Office normotensive obese children had higher ABP values. MH was associated with obesity, PH and high-normal BP.
Approximately 90% of "XX males" are positive for
. However, there are isolated cases of sex reversal associated to other genes in male-determining pathway.
We describe a 1.3-old patient with 46,XX ...karyotype, male phenotypic gender and cryptorchidism. Microarray analysis revealed a
273 kb duplication in the Xq27.1 region that contains
. FISH with probe specific to
confirmed a unique genomic location of this duplication, dislocated proximal to the centromere of the X chromosome.
This rare genetic condition was described in few other isolated cases that have associated
genetic rearrangements and DSD. Microarray and genome-wide-sequencing presents important part in routine diagnostics, and in delineation of other sex-determination-pathway genes in sex reversal disorders.
Medical emergencies that are life threatening can occur in dental practice. Complications may arise because of an underlying disease or a reaction to medication. Reactions to medications may be ...allergic and toxic. The most common reactions are toxic reactions to local anesthetics, whereas allergies occur mainly as a consequence of the application of antibiotics, usually penicillin. In response to stress, vasovagal syncope typically occurs. Other causes may be related to an underlying disease-specific pathology (such as acute asthma attack, diabetic ketoacidosis, hypoglycemia, or seizures) or accidents (aspiration of a foreign body causing obstruction of the respiratory system). For all the above conditions, guidelines have been established that need to be known. If complications occur or necessary measures are not taken, it can lead to cardiac and respiratory arrest. Therefore, cardiopulmonary resuscitation is needed. All procedures and dosages should be adapted to the age of the child.
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